PHD theses : Medical Laboratory Science

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    Genotyping of Vascular Endothelial Growth Factor (VEGFA) and Interleukin 1 Alpha, Beta and Receptor Antagonist (IL1 A, IL1B and IL1RN) Genes and View Haematological Profile of Preeclamptic Sudanese Women
    (ALNEELAIN UNIVERSITY, 2022-09) Hameed Mohamed Hamid
    Abstract Background: Among the genetic factors, there is an association between preeclampsia and polymorphisms in some genes of different population samples, as vascular endothelial growth factor (VEGFA) and the inflammatory mediators, as IL-1A, IL-1b and IL-1RN. The study aimed to determine genotyping of vascular endothelial growth factor (VEGFA) interleukin 1 Alpha (IL1A) genes, interleukin 1 beta (IL1B) genes and receptor antagonist and hematological profile among preeclamptic Sudanese women. Method: The study was case - control study conducted in Khartoum at Saad Abualila hospital in the period from 2015 to 2019. One hundred and twenty pregnant women were involved; sixty had preeclampsia and sixty were healthy controls. The participants were genotyped for vascular endothelial growth factor A (VEGFA) rs3025039, interleukin 1 Alpha (IL1A) rs1800587 interleukin 1 beta (IL1β) rs16944, and IL1β rs1143634, (IL1RN) receptor antagonist(rs2234663) by performing polymerase chain reaction–restriction fragment length polymorphism analysis and haematological profile. Results: Genotypes distribution of VEGFA+936C/T, interleukin 1 ALPHA (IL1A)-889C/C, IL-1β–511T/C,IL-1β+3954C/T, IL1RN and haematological profile. VEGFA+936C/T polymorphism was significantly associated with preeclampsia. The proportion of heterozygotes (CT) was significantly higher in patients 45.0% compared to 26.7% of the controls. Likewise, the proportion of the T allele was significantly higher in women with preeclampsia compared to the healthy controls’ women (29.2% vs. 26.7%).IL-1A–889 C/C polymorphism was significantly higher in patients 55.0% compared to 45% of the controls. The proportion of the C allele in women with preeclampsia (65%) compared to the healthy controls (55%) women. IL-1β–511T/C polymorphism (the heterozygotes only) was significantly associated with preeclampsia, The proportion of heterozygotes (CT) higher in patients 45% compared to 23.3% of the controls. The proportion of the C allele in women with preeclampsia (25.8%) compared to the healthy controls (20.0%) women. IL-1β+3954 polymorphism was significantly associated with preeclampsia. The proportion of heterozygotes (CT) higher in patients 51.7% compared to 18.3% of the controls. Moreover, the proportion of the T allele was significantly higher in women with preeclampsia compared to the controls’ women (34.2% vs. 15.8%). ILRN (intron 2) (VNTR) (rs2234663) polymorphism was no significantly associated with preeclampsia. (In patients 10% compared to 11.6 % of the controls). The study of haematological profile, for patient 41% had low platelets below 150, 28% had high haematocrit and 56% had low haemoglobin levels. Among the control 38% % had low platelets below 150, 32% had high haematocrit and 52% had low haemoglobin levels. There was no statistically significant difference according to CBC. Conclusions: In this study significant association were observed between preeclampsia and VEGFA+936C/T,IL-1A–889 C/C, IL-1β+3954C/T, IL-1β-511T/C, (IL1RN) receptor antagonist(rs2234663) gene polymorphism and haematological profile among Sudanese women. Further research is needed. Recommendations: further studies are required with larger sample size and other molecular diagnostic tools. المستلخص الخلفية: من بين العوامل الوراثية ، هناك ارتباط بين تسمم الحمل وتعدد الأشكال في بعض الجينات من عينات سكانية مختلفة ، مثل عامل النمو البطاني الوعائي (VEGFA) والوسطاء الالتهابيين ، مثل IL-1A و IL-1b و IL-1RN. هدفت الدراسة إلى تحديد التنميط الجيني لعامل النمو البطاني الوعائي (VEGFA) وجينات إنترلوكين 1 ألفا (IL1A) وجينات إنترلوكين 1 بيتا (IL1B) ومضادات مستقبلات الدم لدى النساء السودانيات المصابات بالتهاب. المنهج: الدراسة كانت دراسة حالة - شواهد أجريت في ولاية الخرطوم بمستشفى سعد أبوالعلا في الفترة من 2015 م إلى 2019 م وشاركت فيها مائة وعشرون سيدة حاملكان ستون منهم بحالة جيدة ، وستين مصابًا بتسمم الحمل. تم التنميط الجيني للمشاركين من أجل عامل النمو البطاني الوعائي A (VEGFA) rs3025039 ، interleukin 1 Alpha (IL1A) rs1800587 interleukin 1 beta (IL1β) rs16944 ، و IL1β rs1143634 ، (IL1RN) مضاد مستقبلات (IL1RN) من خلال إجراء تفاعل سلسلة البوليمرات (rs2234663). تحليل طول تعدد الأشكال ، وتم تأكيد النتائج من خلال تسلسل الحمض النووي والملف الدموي. النتائج: كان توزيع الأنماط الجينية لـ VEGFA + 936C / T ، و interleukin 1 ALFA (IL1A) -889C / T ، و IL-1β – 511T / C و IL-1β + 3954C / T ، و IL1RN ملف تعريف الدم متسقًا مع HWE (P> 0.05). ارتبط تعدد الأشكال VEGFA + 936C / T بشكل كبير مع تسمم الحمل. كانت نسبة الزيجوت متغايرة الزيجوت (CT) أعلى بشكل ملحوظ في المرضى 45.0٪ مقارنة بـ 26.7٪ من المجموعة الضابطة. وبالمثل ، كانت نسبة الأليل T أعلى بشكل ملحوظ في النساء المصابات بمقدمات الارتعاج مقارنة بالنساء الأصحاء (29.2٪ مقابل 26.7٪) .لقد ارتبط IL-1A-889 C / T تعدد الأشكال بشكل كبير مع مقدمات الارتعاج. نسبة الأليل C في النساء المصابات بمقدمات الارتعاج (55٪) بالمقارنة مع النساء الأصحاء (71.7٪). ارتبط تعدد الأشكال IL-1β-511T / C (متغاير الزيجوت فقط) بشكل كبير مع تسمم الحمل. نسبة الأليل C في النساء المصابات بمقدمات الارتعاج (25.8٪) مقارنة مع النساء الأصحاء (20.0٪). ارتبط IL-1β + 3954 تعدد الأشكال بشكل كبير مع تسمم الحمل. نسبة الزيجوت متغايرة الزيجوت (CT) أعلى في المرضى 51.7٪ مقارنة بـ 18.3٪ من الضوابط. علاوة على ذلك ، كانت نسبة الأليل T أعلى بشكل ملحوظ في النساء المصابات بمقدمات الارتعاج مقارنة بالنساء الضابطات (34.2٪ مقابل 15.8٪). ارتبط تعدد الأشكال ILRN (intron 2) (VNTR) (rs2234663) بشكل كبير مع تسمم الحمل.في دراسة عن الحالة الدموية كان لدي 40% من المرضي انخفاض في الصفائح الدموية دون 150 و28% لديهم ارتفاع في الهيماتوكريت و56% لديهم انخفاض في الهيموغلبين وفي الاصحاء كان لديهم 37% انخفاض في الصفائح الدموية اقل من 150 ولديهم ارتفاع في الهيماتوكرين وانخفاض في الهيموغلبين لم يكن هناك فرق احصائي في CBC الاستنتاجات: في هذه الدراسة لوحظ ارتباط كبير بين تسمم الحمل و VEGFA + 936C / T، IL-1β + 3954C / T,ILRN (intron 2) (VNTR) (rs2234663 وIL-1β-511T / C IL-1A–889 C/Tتعدد الأشكال بين النساء السودانيات. هناك حاجة إلى مزيد من البحث. التوصيات:هناك حاجة إلى مزيد من الدراسات مع حجم عينة أكبر وأدوات التشخيص الجزيئي الأخرى. 
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    GENOME WIDE SEARCH FOR VISCERALLEISHMANIASIS SUSCEPTIBILITY GENESIN SUDANESE POPULATION
    (ALNEELAIN UNIVERSITY, 2005-10) MANAL AHMED MOHAMED AHMED FADL
    ABSTRACT Sudan is one of the major foci of visceral leishinaniasis (VL) globally (the other two foci are Brazil and India). Familial clustering and ethnic differences suggest genetic factors may be involved in the infection. In this study a two stages genome-wide scan was employed using two independent sets of families from two villages: El-Rugab and Um—Salala. located 40 kilometers apart in the heart of the endemic area of eastem Sudan. These villages are inhabited by the Masalit ethnic group who migrated from westem Sudan in the 1980s. In the first stage (= scanl) we genotyped 400 highly polymorphic microsatellite markers (approximately 10 cM apart) in 220 individuals from 38 multicase pedigrees (= scanl families) comprising 48 nuclear families (1 18 affected sibs). Scan] was followed by grid tightening strategy in which 35 additional markers were added close to regions that gave suggestive evidence for linkage of VL susceptibility in scan 1. These markers were typed in scanl families. ln the second stage (scan2). 20 markers from positive regions of linkage and the 35 additional markers were all typed in family set 2 (=scan2 families: 21 nuclear families, 48 affected sibs). ln scan 1, the multipoint analysis performed provided evidence for linkage of VL susceptibility to 5 regions on chromosome lp22, ]q3l.3. 5q34-35.3, 6q27 and l3q 31.1 (0.0002
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    P.falciparum Immune Evasion Mechanisms: Possible Roles For Allelic Polymorphism and Antigenic Variation In Sudanese Isolates.
    (ALNEELAIN UNIVERSITY, 2011-07) Habab Merghani Yassin Babiker
    Abstract Genetic diversity within P. falciparum and the continuous variability of the parasite antigens, makes malaria an important global threat and it the reason behind failure to produce an effective vaccine against malaria. Objectives: This study aimed to determine and characterize Plasmodium falciparum genotypic variations and to detect probable genetic diversity of genotypically identical Pfalciparum isolates in Sudan and to determine whether there is any association between the presence of specific MSP-1 antibodies and the carriage of multiple P. falcinarum infections. Study design: It was cross-sectional, hospital-based and experimental study that was carried out in four localities, Kasab Rural hospital, Eddouiem, Gazira and Khartoum. One hundred and eighty six P. fulciparum infected patients were enrolled in the study. Methods: Nested polymerase chain reaction was carried out to genotyped study isolates using P. falciparum merozoite surface protein (PIMSP-1) gene specific primers. Genetic diversity of all isolates was characterized by random amplified polymorphic DNA (RAPD) analysis using thirteen arbitrary oligonucleotide primers. RAPD was also used to study the polymorphism of different isolates before and after in vitra cultures. ELISA test was performed to determine the prevalence of lgG antibodies against four rMSP-1 fragments (C-terminus, WELL, K1 DI & K1 Dll). Results: The |gG seroprevalence was 85.2, 23.8, 23.9 81 35.2 % to MSP-1,5, WELL, K1 DI & K1 Dll respectively. There was a gradual increase in overall antibody prevalence reaching a peak in adolescence and decrease thereafter. The difference was only age»specific for the C-terminal fragment. The three reported families of msp-Ialleles (K1, MADZO and R033) were observed among the studied isolates. The predominant allele was of Klvariant while R033 was less frequent. The majority of the patients had multiple parasite clones and multiplicity of infection (MOI) was found to be 1.82, this MOI was found to be higher in Kasab, Eddouiem and Khartoum and was significantly associated with age and having malaria symptoms, but not with parasitemia and fiequency of infections. Patients with multiple infections had higher prevalence of antibodies to all antigen fragments studied, compared to those with single infection, but this was only significant for MSP-119. RAPD primers recognized marked polymorphism and difierent profiles among isolates with a .laccard’s Similarity Coefficient ra.nged from 0.25 to 0.80. Different MSP-1 alleles showed different RAPD banding patterns, no certain genotype was found to be unique a certain banding pattem. Forty nine isolates were successfully in vitra cultured. RAPD analysis revealed that only 29 isolates showed different banding patterns before and after in vitro culture Conclusion: P. falciparum isolates fi'om different parts of Sudan were genetically diverse and most of the infections were mixed with a high level of multiplicity of infection (MOI). This MOI extend the duration of the infection and delay the acquisition of protective immunity, making it difiicult to produce effective vaccines against these parasites and this is in turn increase the burden of the disease and poverty. Further longitudinal large size studies, including protein analysis and mono-clonal antibodies to identify functional antibodies are needed to evaluate the impact of this polymorphism on the immune response and in tum help in developing effective vaccine against malaria
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    Molecullzr and'sero- epidemiology of‘To:¢op&1.s~rna gonzfii infection among pregnant women attenzfing antenataf care units in K/iartoum state.
    (ALNEELAIN UNIVERSITY, 2021) Ammar Ahmed Mohammed AbdelMola
    Abstract Background: T. gondii is a protozoon parasite that is widely distributed around the world and can infect all mammals and birds. While acquired toxoplasmosis is usually asymptomatic in healthy subjects, acute infection during pregnancy may lead to abortion, stillbirth, fetal neurological and ocular damages. it is necessary to detennine the seroprevalence of toxoplasmosis in pregnant women and the actual risk of Tgondii transmission during pregnancy in a certain area. Objectives :This study aimed to antenatal screening of pregnant women in Khartoum state a.nd educational program about risks for Toxoplasmosis. Positive findings indicated, early diagnosis of toxoplasmosis in pregnant women will be necessary to get effective treatment and prevent fetal complications Method: This was a cross-sectional descriptive study carried out between April and October 2016 involving 200 pregnant women attending antenatal care units at 3 selected health centers( Soba, Fedail and Turkey hospitals) in Khartoum state to measure the levels of both IgG and IgM by using ELISA technique and nested PCR to detect GRA6 gene for toxoplasma .Data of risk factors were obtained throw questionnaire . Result: Thus, the overall molecular and seropositivity for T. gondii among 200 participants were found 13% and 8% respectively .Multivariable logistic regression analysis showed that the education, age, habits of consumption of raw meat, contact with cats revealed nonsignificant (p > 0.05) effects on molecular and seropositivity for T. grmdii in pregnant women. Residence is the only variable that shows marked significance with a p value of 0.0003 which is less than p value = 0.05. PCR testing to detect 26 positive cases (13%) which shows great sensitivity and specificity compared with ELISA technique which showed 16 scropositive (8%) results with only IgG antibody detected and the IgM showed negative results in all the samples. Conclusion: Molecular and seropositivity of toxoplusmosis were low compared to other studies worldwide. PCR is more sensitive and specific for Toxoplsmosis Gondii. Residence is the only variable that shows marked significance with the PCR positive cases. m
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    Factor-V Leiden G1691A and Prothrombin G20210A Polymorphisms in Sudanese Women with Preeclampsia.
    (ALNEELAIN UNIVERSITY, 2022) Nadir Awad Ahmed Mohamed
    Abstract Background: Preeclampsia is a multisystem syndrome that includes the development of new-onset hypertension and new-onset proteinuria in the second half of pregnancy. Preeclampsia can lead to adverse maternal and perinatal outcomes.The aim of this study was to assess Factor-V Leiden and Prothrombin variation in Sudanese women with preeclampsia. Methods A case –controls study was conducted at Saad Abu alila Hospital in Khartoum, Sudan during the period of February through November 2017. The cases were women with preeclampsia and healthy pregnant women were selected as controls (180 women in each arm of the study). Genotyping for Factor-V Leiden 1691G/A and Prothrombin gene variation 20210G/A was done by polymerase chain reaction–restriction fragment length polymorphism (PCR–RFLP). Results There was no significant difference in the age, parity, body mass index (BMI) and the other characteristics between the cases and the controls. Genotypes distribution of Factor V Leiden 1691G/A and prothrombin gene 20210G/A in controls was in accordance with the Hardy–Weinberg equilibrium (P > 0.05). The factor V Leiden-variation was present in 9.6% of the cases compared with 0.6% of the controls, P < 0.001 (OR = 18.60, 95% CI = 2.38–136.1). Only 4 patients with severe preeclampsia had homozygous variation A/A and it was not detected in the controls. Prothrombin G20210A variations not detected neither in the cases nor in the controls group. Conclusions High prevalence of Factor V Leiden 1691G/A variation in preeclamptic patients compared to controls suggest an involvement of this variation in predisposing to preeclampsia in this setting. Recommendations Further studies on large Sudanese women population with preeclampsia are needed to classify all DNA thrombophilic mutations. اﻟﻤﺴﺘﺨﻠﺺ تسمم الحمل هي متلازمة متعددة الأنظمة تتضمن ظهور ارتفاع ضغط الدم وزيادة بروتين البول في النصف الثاني من الحمل مما يؤدي إلى نتائج عكسية للأمهات والفترة المحيطة بالولادة ، الهدف من هذه الدراسة هو تقييم تباين العامل الخامس لايدن و البروثرومبين في النساء السودانيات المصابات بتسمم الحمل اﻟﺪراﺳﺔ اﻟﺤﺎﻟﯿﺔ ھﻲ دراﺳﺔ ﻣﺘﻘﺪﻣﺔ أﺟﺮﯾﺖ ﻛﺸﺎھﺪ ﻟﻜﺸﻒ ﻋﻼﻗﺔ ھﺬه اﻟﻄﻔﺮات اﻟﺠﯿﻨﯿﺔ ﻟﻌﺎﻣﻞ اﻟﺘﺨﺜﺮ اﻟﺨﺎﻣﺲ V ﻟﯿﺪن , G1691A وﺟﯿﻦ اﻟﺒﺮوﺛﺮوﻣﺒﯿﻦ (G20210A) ﻣﻊ ﺣﺪوث تسمم الحمل, ﺷﻤﻠﺖ اﻟﺪراﺳﺔ ﻣﺎﺋﺔ وثمانون اﻣﺮأة ﺳﻮداﻧﯿﺔ ﻣﻦ اﻟﻼﺗﻲ ﻋﺎﻧﯿﻦ ﻣﻦ حالة تسمم الحمل ﻓﻲ ﻣﺴﺘﺸﻔﻲ سعد أبو العلا بالخرطوم (اﻟﺴﻮدان ) ﻓﻲ اﻟﻔﺘﺮة ﻣﻦ من فبراير حتى نوفمبر 2017 ,وﺗﻤﺖ ﻣﻘﺎرﻧﺔ اﻟﻨﺘﺎﺋﺞ ﻣﻊ ﻣﺎﺋﺔ وثمانون اﻣﺮأة ﺳﻮداﻧﯿﺔ سليمة وﻟﻢ ﯾﻜﻦ ﻟﮭﻦ أي ﺗﺎرﯾﺦ ﻟﺘﻌﺮﺿﮭﻦ ﻟﺤﺎﻻت تسمم الحمل أونتائج للحمل السلبي واﻟﻼﺗﻲ اﻋﺘﺒﺮن ﻛﺸﺎھﺪ ﻓﻲ ھﺬه اﻟﺪراﺳﺔ . ﺗﻢ اﺳﺘﺨﻼص اﻟﺤﻤﺾ اﻟﻨﻮوي ﻣﻦ ﻛﻞ ﻋﯿﻨﺔ و تم إجراء التنميط الجيني ﻟﻌﺎﻣﻞ اﻟﺘﺨﺜﺮ اﻟﺨﺎﻣﺲ V ﻟﯿﺪن G1691A و جين البروثرومبين (20210G / A) عن طريق تعدد الأشكال بطول جزء من سلسلة تفاعل البلمرة المتقيدة (PCR – RFLP) لم يكن هناك اختلاف كبير في العمر ، والتكافؤ ، ومؤشر كتلة الجسم (BMI) وغيرها من الخصائص بين الحالات والشواهد. كان توزيع الأنماط الوراثية ﻟﻌﺎﻣﻞ اﻟﺘﺨﺜﺮ اﻟﺨﺎﻣﺲ V ﻟﯿﺪن G1691A وجين البروثرومبين 20210G / A في الشواهد متوافقًا مع توازن هاردي واينبرغ (P> 0.05). كان التباين فى العامل الخامس ليدن موجودا في 9.6 ٪ من الحالات مقارنة مع 0.6 ٪ من الشواهد. P < 0.001 (OR = 18.60, 95% CI = 2.38–136.1) وكان فى المقابل فقط 4 مرضى يعانون من تسمم الحمل الوخيم أظهروا تباين متماثل A / A ولم يتم الكشف عنه في الشواهد. بينما لم يتم اكتشاف اختلافات للبروثرومبين G20210A في الحالات ولا في مجموعة الشواهد. وﻓﻲ ﺧﺘﺎم دراﺳﺘﻨﺎ وُﺟﺪ ان اﻟﻄﻔﺮات اﻟﺠﯿﻨﯿﺔ ﻟﻌﺎﻣﻞ اﻟﺘﺨﺜﺮ اﻟﺨﺎﻣﺲ V ﻟﯿﺪن G1691A ﺗﺸﻜﻞ ﺧﻄﺮا ﻣﺆﺛﺮا ﯾﻮدي ﻟﺤﺪوث ﺣﺎﻻت تسمم الحمل ﻟﺪى اﻟﻨﺴﺎء ﺧﻼل اﻟﻔﺘﺮات اﻻﻧﺠﺎﺑﯿﺔ . التوصيات: هناك حاجة إلى مزيد من الدراسات حول عدد كبير من النساء السودانيات المصابات بتسمم الحمل لتصنيف جميع طفرات الحمض النووي الخثارية.
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    A study on the occurrence of Toxoplasma gondii among the Immunocompromised Individuals in Khartoum state using serological and molecular techniques.
    (Al-Neelain University, 2022) Elghazali MohammedKheir Ahmed Mohammed
    Abstract Background Toxoplasmosis is life-threatening for persons with impaired cellular immunity, in particular those with HIV infections and CD4+T-cell counts less than 100/µL of blood and persons receiving immunosuppressive medications. Disease in these persons is more commonly due to reactivation of chronic infection than to newly acquired infection. Objectives This study aimed to provide advance approach to the detection of Toxoplasma gondii DNA and specific antibodies in HIV/AIDS patients and Renal Transplant recipient individuals. Patients selected were coming from different areas of the Sudan. Methods This was a descriptive cross sectional, hospital based study, blood sample were collected from 108 participants; out of them 58, renal transplant recipient individuals and 50 HIV/AIDS patients attending Sudanese kidney association hospital and HIV Center -Omdurman Hospital, during 2018-2020. Demographic data were collected by structured questionnaire. All samples were tested for anti-Toxoplasma IgG and IgM antibodies using ELISA, and (cnPCR, RT-PCR) for detection of Toxoplasma DNA was performed. Results A total of 108 participants, classified into three groups, 58 of them were renal transplant recipients and 50 HIV/AIDS infected patients enrolled in this study. Among them 61 were males and 47females. The sero-molecular prevalence of toxoplasma gondii among studied populations were (31.8%), 25.1% were IgG positive, 3.8% IgM, 3.8% cPCR positive DNA. All studied populations were negative for the toxoplasma DNA detection with Real-time PCR. No significant association was observed between seropositivity for anti-T gondii IgG and anti-T gondii IgM antibodies and gender (P value=0.684). The trivariate analysis showed a significant association between all studied groups and seropositivity to anti-T gondii IgG antibody (P value=0.027). Conclusions The study showed a relatively high seroprevalence of T.gondii antibodies in renal transplant recipients, HIV patients, and blood donor volunteers, on the other hand, the prevalence was much higher in the study conducted in pregnant woman in Sudan. الخلاصة خلفية: داء المقوسات يهدد حياة الأشخاص الذين يعانون من ضعف المناعة الخلوية، ولا سيما المصابين بعدوى فيروس نقص المناعة البشرية، ويحسب CD4+T-cell أقل من 100/μL من الدم والأشخاص الذين يتلقون أدوية مثبطة للمناعة. المرض في هؤلاء الأشخاص هو أكثر شيوعا بسبب إعادة تنشيط العدوى المزمنة من العدوى المكتسبة حديثا. الاهداف: هدفت هذه الدراسة إلى توفير نهج مسبق للكشف عن الحمض النووي توكسوبلازما غوندي والأجسام المضادة المحددة في مرضى فيروس نقص المناعة البشرية / الإيدز، والأفراد المتلقين زرع الكلى والمتطوعين المتبرعين بالدم. وكان المرضى المختارون قادمين من مناطق مختلفة من السودان. أساليب : وكانت هذه دراسة وصفية مقطعية، مقرها المستشفى، تم جمع عينة دم من 108 مشاركا؛ ومن بينهم 58 شخصا، من الأفراد المستفيدين من زرع الكلى، و50 مريضا بفيروس نقص المناعة البشرية/الإيدز، يذهبون إلى مستشفى جمعية الكلى السودانية، ومركز فيروس نقص المناعة البشرية - مستشفى أم درمان التعليمي، خلال الفترة 2018-2020. تم جمع البيانات الديموغرافية بواسطة استبيان منظم. تم اختبار جميع العينات للأجسام المضادة لتوكسوبلازما IgG وIgM باستخدام ELISA ، و (CNPCR ، RT-PCR) للكشف عن الحمض النووي توكسوبلازما تم إجراؤها. النتائج : وقد تم تصنيف 108 مشاركا في المجموع إلى ثلاث مجموعات، 58 منهم من متلقي زراعة الكلى و50 مريضا مصابا بفيروس نقص المناعة البشرية/الإيدز. وكان من بينهم 61 من الذكور و 47 من الاناث. وكان الانتشار المصلي الجزيئي للتوكسوبلازما غوندي بين السكان الذين تمت دراستهم (31.8٪)، 25.1٪ إيجابية IgG، 3.8٪ IgM، 3.8٪ الحمض النووي الإيجابي cPCR. وكانت جميع المجموعات السكانية التي تمت دراستها سلبية للكشف عن الحمض النووي توكسوبلازما مع PCR في الوقت الحقيقي. لم يلاحظ أي ارتباط كبير بين السلبية للأجسام المضادة ل T gondii IgG والأجسام المضادة المضادة ل T gondii IgM والجنس (قيمة P = 0.684). ) أظهر التحليل الثلاثي المتغيرات ارتباطا كبيرا بين جميع المجموعات المدروسة والحساسية المصلية للأجسام المضادة ل T gondii IgG قيمة P = 0.027)). الاستنتاجات : وأظهرت الدراسة وجود نسبة عالية نسبيا من الأجسام المضادة للتوكسوبلازما في المتلقين زرع الكلى، ومرضى فيروس نقص المناعة البشرية، من ناحية أخرى، كان انتشار أعلى من ذلك بكثير في الدراسة التي أجريت على امرأة حامل في السودان.
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    Homocysteine Metabolic Enzymes Genetic Polymorphisms in Sudanese Patients with Hyperhomocysteinemia with Cardiovascular Diseases and Chronic Renal Failure
    (Al-Neelain University, 2021-08) Taghreed Mohamed Osman Dirar
    Abstract Introduction and background: Chronic kidney failure (CRF) is considered as an independent risk factor for coronary artery disease (CAD), which is the leading cause of morbidity and mortality in patients with CRF. The relation between renal diseases and cardiovascular disease (CVD) has been documented in many studies. Earlier studies on the relationship between the CVS and CRF and MTHFR C677T, CBS 844 ins68 and MTR A2756G genes polymorphisms were performed, in many ethnic groups worldwide. Objectives: The aim of our research was to detect the presence of genetic mutations of methylenetetrahydrofolate reductase (MTHFR C677T), cystathionine b-synthase (CBS) 844 ins68, and methionine synthase (MS) A2756G in Sudanese healthy subjects, and their association with CVD and CRF in hyperhomocysteinemic patients. Material and Methods: This study was cross-sectional in design. Conducted during the time from June 2014 to June 2017. The total homocysteine levels were measured for a total number of 300 Sudanese patients suffering of CVD or CRF (150 for each), and only patients with homocysteine concentration over 15 mmol/L were enrolled. Participants were: (i) Cardiovascular disease Patients (CVD) (n=50), (ii) Chronic Renal Failure Patients (CRF) (n=50). In addition to that 50 apparently healthy Sudanese subjects, were enrolled to represent the control groups. The following investigations were carried out: (a) total plasma homocysteine, by using qualitative competitive immunoassay technique. (b) Serum levels of folic acid, vitamin B-12, blood creatinine, total blood urea and, blood uric acid, total blood protein, serum albumin, triglycerides and total cholesterol for all the participants. (c) Polymerase chain reaction (PCR) was done with the designed primers for MTHFR (C677T), MTR (A2756G) and CBS (844 ins68) variants. Results: the results of this study showed a significant difference in the mean total plasma homocysteine concentration levels between healthy Sudanese individuals, CRF and CVS patients (healthy: 10.97±3.29 µmol/l, CRF: 23.78±13.34 µmol/l, CVS: 27.30±15.14 µmol/l). The frequency of mutant MTHFR C677T, CBS 844 ins68 and MS A2756G polymorphisms among the healthy subjects, CVS and CRF Sudanese patients was very low, and the difference between the control and patients was not statistically significant. Conclusion: The results of the current study showed that the MTHFR C677T, CBS 844 ins68 and MS A2756G polymorphisms cannot be considered as risk factors for developing of CVS and CRF in the Sudanese population. ملخص الدراسة مقدمة وخلفية: مرض الكلى المزمن هو احد العوامل المستقلة المسببة لمرض الشريان التاجي، وهو السبب الرئيسي للإمراضية والوفيات لدى مرضى الكلى المزمن. تم توثيق العلاقة بين أمراض القلب والأوعية الدموية وأمراض الكلى في العديد من الدراسات . أجريت دراسات سابقة على العلاقة بين هذه الأمراض وتعدد الأشكال الوراثي للجينات التالية MTHFR C677T و CBS 844 s68 و MTR A2756G، في العديد من المجموعات العرقية في جميع أنحاء العالم. الأهداف: الهدف من هذه الدراسة هو الكشف عن وجود طفرات جينية في إنزيمات مُخْتَزِلَ الميثيلِين رباعي الهيدروفولات‎، الإنزيم المُصنِع لبيتا سيستاثيونين و الإنزيم المُصنِع للميثيونين في الأشخاص الأصحاء السودانيين والمرضى الذين يعانون من فرط الهوموسيستين في الدم. المواد والطرق: أجريت هذه الدراسة خلال الفترة من يونيو 2014 إلى يونيو 2017. تم قياس مستويات الهوموسيستين الكُلي لعدد إجمالي 300 مريض سوداني يعانون من أمراض القلب والأوعية الدموية أو الفشل الكلوي المزمن (150 لكل منهما)، وتم فقط إشراك المرضى الذين يزيد تركيز الهوموسيستين لديهم عن 15 مليمول/لتر في هذه الدراسة. كان المشاركون كالتالي: مجموعة مرضى القلب والأوعية الدموية (ن = 50) ومجموعة المرضى الذين يعانون من مرض الكلى المزمن (ن = 50). بالإضافة إلى ذلك تم إشراك50 شخصًا سودانيًا يتمتعون بصحة جيدة، لتمثيل المجموعة الضابطة. تم إجراء الفحوصات التالية: (أ) الهوموسيستين الكلي في البلازما ، باستخدام تقنية المقايسة المناعية النوعية. (ب) مستويات حمض الفوليك وفيتامين ب 12 واليوريا والكرياتينين وحمض البوليك في الدم والبروتين الكلي والألبومين والكوليسترول الكلي والدهون الثلاثية لجميع المشاركين. (ج) تم إجراء تفاعل البلمرة المتسلسل باستخدام البادئات المصممة لمغايرات التالي MTHFR (C677T), MTR (A2756G) و. CBS (844 ins68) النتائج: أظهرت نتائج هذه الدراسة اختلافًا ذو دلالة في متوسط ​​مستويات الهوموسيستين في البلازما بين الأفراد السودانيين الأصحاء من جهة ومرضى الفشل الكلوي المزمن ومرضى القلب والأوعية الدموية (10.97±3.29، 23.78 ± 13.34 و 27.30 ± 15.14ميكرومول/لتر على التوالي). كان تواتر الطفرات الجينية التي تم دراستها (MTHFR (C677T), MTR (A2756G) و (CBS (844 in s68) بين الأشخاص الأصحاء ومجموعتي المرضى منخفضًا جدًا، ولم يكن الفرق بين المجموعة الضابطة والمرضى ذا دلالة إحصائية. الخلاصة: أظهرت النتائج أن الطفرات متعددة الأشكال لكل منMTHFR (C677T) ، CBS (844 in s68) و MS (A2756G) لا يمكن اعتبارها عوامل خطر لتطور أمراض الكلى والقلب والأوعية الدموية في السودانيين.
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    Frequency and Prognostic Value of Tyrosine Kinase Inhibitor Resistant Mutation T315Iand F317L among Chronic Myeloid Leukemia Patients in Sudan
    (Al-Neelain University, 2022) Noah Awad Abdellah Salim
    Abstract Background Chronic myeloid Leukemia (CML) is a neoplasm characterized by clonal expansion of hematopoietic stem cells , resulting in increase of peripheral blood myeloid ,erytroid, and platelet cells, with bone marrow myeloid hyperplasia a myeloproliferative disease characterized by chromosomal translocation t(9:22) (q34:q11), also known as Philadelphia chromosome. The consequence of this translocation is a bcr-abl oncogenic fusion gene which produces bcr-abl protein with enhanced tyrosine kinase activity. Increased knowledge about CML and the discovery of the molecular pathway of tyrosine kinase has led to the creation of (smart drug) Imatinib myesylate (IM), which competitively binds at ATP binding site and specifically inactivates bcr-abl kinase. In Sudan CML is most common leukemia and represent about 35% of cancer. Objective This study aimed to detect the presence of T315Iand F317l in CML patients treated with Imatinib therapy. We also aimed to assess the strategies for diagnosis, prognosis and treatment in patients treated with Imatinib for T315I and F317l mutations. Materials and Methods A cross sectional study was conducted at Radio and Isotope Center at Khartoum and approved in period from June 2017 to April 2021 at Alneelain University, Facaulty of Medical Laboratory Science. The study population was Sudanese Chronic Myeloid leukemia patients with different age groups whom attended Radio and Isotope Center at Khartoum and approved to participated in this study A total of 100 patients were included in this study matched age and sex. Five (ml) venous blood samples were collected from each subject in EDTA blood container 2.5 ml of blood sample was analyzed by automated hematology analyzer for measurement of complete blood counts and the remaining 2.5ml was used for DNA extraction and screened by Allele Specific Oligonucleotide Polymerase Chain Reaction (ASO-PCR) technique to detect T315I and F317l mutations. Data were analyzed by statistical package for social science (SPSS) computer program version 20. Results This study shows that, 67(67%) were males and 33(33%) were females with ratio 2:1, and average age of (43.89±13.1) years old. Two % of Both mutations T315I and F317L was found in our population, first was a female 45 years old and in accelerating phase and bone marrow result show blast cells 16%, TWBCs count was (65.4x 109/L), Platelet count was (599x 109/L), and Hemoglobin concentration was 7.5 g/dl, second patient was a male 23 years old and he was in chronic phase and bone marrow result show blast cells less than 2.0%, TWBCs count was (33.2 x109/L),Platelet count was (78x 109/L),Hemoglobin concentration was 8.2 g/dl. The mean of patients have both mutations in TWBCs were (49.20 x109/L) and mean of patients not have both mutations in TWBCs were (11.76 x109/L), so that patients whom have both mutations T315I and F317L show increased in the mean of TWBCs (49.20 x109/L) more than the mean of TWBCs in patients whom have not mutations (11.76 x109/L) table (3.2).Also The mean of patients have both mutations in HCT were (7.50) while The mean of patients have not both mutations in HCT were(36.48) ), so that patients whom have both mutations T315I and F317L show decreased in the mean of HCT (7.50) more than the mean of HCT in patients whom have not mutations (36.48) table (3.2).While other parameters as RBCs ,Hb, ,MCH,MCHC,PLTs and MCV were normal in all patient. One patient was found as a single mutation for T315I in a male 45 years old and he was in chronic phase and bone marrow result show blast cells less than 6.0%, TWBCs count was (25.3x109/L), platelet count was (121x 109/L), Hemoglobin concentration was 11 g/dl table (3.3). TWBCs of this patient have a singleT315I mutation was high than the normal The study found significant different (P.value 0.037) between phases and age, also found insignificant difference of sex among phases, T315I mutation and F317L mutation. Also the study found insignificant difference (P.value 0.4) of age among T315I mutation, and age among F317L mutation (P.value 0.4). Conclusion Low frequency of T315I resistant mutation is detected in CML patient treated with Imatinib in Sudan. Low frequency of F317L resistant mutation is detected in CML patient treated with Imatinib in Sudan. TWBCs counts increased with T315I and F317L mutations. HCT decreased with T315I and F317L mutations. مستخلص البحث الخلفيه اللوكيميا النخاعية المزمنة (CML) هي ورم يتميز بالتوسع النسيلي للخلايا الجذعية المكونة للدم ، مما يؤدي إلى زيادة الخلايا النخاعية والصفائح الدموية الطرفية ، مع تضخم نخاع العظم النخاعي وهو مرض تكاثر نقي يتميز بالانتقال الكروموسومي (9:22) (q34: q11) ، المعروف أيضًا باسم كروموسوم فيلادلفيا. نتيجة هذا الانتقال هو جين اندماج مسرطنة bcr-abl ينتج بروتين bcr-abl مع نشاط التيروزين كيناز المعزز. أدت زيادة المعرفة حول CML واكتشاف المسار الجزيئي لتيروزين كيناز إلى إنشاء (عقار ذكي) imatinib myesylate (IM) ، والذي يرتبط بشكل تنافسي في موقع ارتباط ATP ويثبط نشاط bcr-abl kinase على وجه التحديد. يعتبر سرطان الدم النخاعي المزمن في السودان أكثر أنواع اللوكيميا شيوعًا ويمثل حوالي 35٪ من حالات السرطان. الهدف هدفت هذه الدراسه اللي الكشف عن وجود طفرات F317L,T315I فى المرضى بعلاج Imatinib تهدف ايضا الي تقييم ااستراتيجيات التشخيص والعلاج فى هذه الطفرات المقاومه للعلاج. الطريقه هذه دراسة مقطعية أجريت في جامعة النيلين بولاية الخرطوم خلال الفترة من يونيو 2017 إلى ابريل 2021 لمرضى سرطان الدم النخاعي المزمن (CML) الذين تم تشخيصهم إكلينيكيًا ومختبريًا بإيجابية فيلادلفيا والتي عولجت بـ Imatinib. شارك ما مجموعه 100 مريض في هذه الدراسة متطابقة العمر والجنس. تم جمع خمسة مل من عينات الدم الوريدي من كل موضوع في حاوية الدم EDTA ، وتم تحليل 2.5 مل من عينة الدم بواسطة محلل أمراض الدم الآلي لقياس تعداد الدم الكامل ، و 2.5 مل المتبقية المستخدمة لاستخراج الحمض النووي وفحصها باستخدام Allele Specific Oligonucleotide Polymerase Chain Reaction. تقنية (ASO-PCR) للكشف عن طفرات T315I و F317l. تم تحليل البيانات بواسطة الحزمة الإحصائية لبرنامج العلوم الاجتماعية (SPSS) الإصدار 20. النتيجه شملت هذه الدراسة 67 (67٪) من الذكور و 33 (33٪) من الإناث بنسبة 2: 1. تراوحت الأعمار من 10 إلى 70 سنة ، وبلغ متوسط ​​أعمار المرضي 43.89 سنة. تم العثور على كل من الطفرات T315I و F317L في مريضين ، الأول كان أنثى تبلغ من العمر 45 عامًا وفي المرحلة المتسارعة ونتائج نخاع العظم تظهر خلايا الانفجار 16٪ ، وكان عدد TWBCs (65.4x 109 / L) ، وكان عدد الصفائح الدموية (599x 109 /) L) ، وكان تركيز الهيموجلوبين 7.5 جم / ديسيلتر ، وكان المريض الثاني ذكر 23 عامًا وكان في المرحلة المزمنة وكانت نتيجة نخاع العظم تظهر خلايا انفجار أقل من 2.0٪ ، وكان عدد خلايا الدم البيضاء (33.2 × 109 / لتر) ، وعدد الصفائح الدموية كان (78 × 109 / لتر) ، وكان تركيز الهيموجلوبين 8.2 جم / ديسيلتر. كان متوسط ​​المرضى الذين لديهم طفرات في TWBCs (49.20 x109 / L) ومتوسط ​​المرضى الذين ليس لديهم طفرات في TWBCs كان (11.76 x109 / L) ، بحيث أظهر المرضى الذين لديهم طفرات T315I و F317L زيادة في متوسط TWBCs (49.20 x109 / L) أكثر من متوسط ​​TWBCs في المرضى الذين ليس لديهم طفرات (11.76 x109 / L) جدول (3.2) كما كان متوسط ​​المرضى الذين لديهم طفرات في HCT (7.50) بينما كان متوسط ​​المرضى لديهم لم تكن كلتا الطفرات في كليات التقنية العليا (36.48)) ، لذا فإن المرضى الذين لديهم طفرات T315I و F317L يظهرون انخفاضًا في متوسط ​​HCT (7.50) أكثر من متوسط ​​HCT في المرضى الذين ليس لديهم طفرات (36.48) جدول (3.2) بينما كانت المعلمات الأخرى مثل كرات الدم الحمراء ، والهيموغلوبين ، و MCH ، و MCHC ، و PLTs ، و MCV طبيعية في جميع المرضى. تم العثور على مريض واحد كطفرة مفردة لـ T315I في ذكر يبلغ من العمر 45 عامًا وكان في مرحلة مزمنة وأظهرت نتيجة نخاع العظم أن الخلايا المتفجرة أقل من 6.0٪ ، وكان عدد كرات الدم البيضاء TWBCs (25.3 × 109 / لتر) ، وكان عدد الصفائح الدموية (121 × 109) / لتر) ، تركيز الهيموجلوبين كان 11 جم / ديسيلتر جدول (3.3). TWBCs لهذا المريض لديها طفرة واحدة T315I كانت عالية من المعدل الطبيعي
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    Laboratory Diagnosis of Male Infertility among Sudanese Couples
    (Alneelain University, 2006) Abdalmula Mohammed Abdalla
    ln view of the increasing number of infertility among the couple male present in the Sudan .This study was conducted to essentially study the factors responsible for decreased male fertility, the impact of toxic and antioxidant elements on male reproductive function .and to introduce biochemical markers to be used in male infertility diagnosis . Group of 500 infertile male subjects were enrolled ;15O azoospermic 150 oligospermic patients, 100 patients with abnormal sperm motility and 100 patients with abnormal sperm morphology were studied, and compared with reference group of 100 fertile male. The fertility and thyroid hormones were measured by ELISA and trace elements in semen and serum/blood by AAS. Semen volume and liquefaction time in azoospermic and oligospermic patients was significantly reduced (p< .05 ). Significant correlation was noticed between both FSH & LH with seminal volume , and blood Pb with liquefactions time in azoospermic patients .Significant correlation was observed between seminal Zn and liquefaction time in both azoospermic and oligospermic subjects.(r < .05). Immunological infertility is higher in patient with abnormal sperm motility (9% lgC-3, 6% lgA) than other test groups. Testosterone in the test groups was significantly reduced , while FSH level was significantly increased (p<.O5). Prolactin level was increased in azoospermia, and significantly increased in the other infertile groups (p<.O5). LH was significantly increased in both azoospermic and oligospermic patients (p<.O5) Significant correlation was noticed between ,LH and semen Cd in azoospermia , prolactin was significantly correlated with Pb in both blood and semen, and with seminal Mn and Zn, LH with seminal Zn in oligospermic patients. Also correlation between, prolactin with blood Pb and FSH with blood Cd in abnormal sperm motility patients (r<.05), .The thyroid hormones showed conflicting levels in the infertile test groups, only T4 was slightly increased. In seminal plasma Cd level was significantly increased in both azoospermic and oligospermic patients (p < .05). Seminal Pb level was slightly elevated in infertile patients with azoospem1ia and oligospermia . Zn level was significantly reduced in the infertile groups (p<.O5). Se , Mg & Ca were significantly reduced in both azoospermic and oligospermic patients (p<.O5). Where as Mn, Ni, Co,Cr and Cu showed no significant variations .ln blood Pb level was increased in the test groups, and Cd level was significantly increased in azoospermia (p<.O5), and the other elements indicated conflicting level , _but within normal range when compared with control group. Pb level was significantly correlated in blood and semen of azoospermic and oligospermic subjects,Also Cd level was significantly correlated in both semen and blood of abnormal sperm motility patients (r<.O5). Seminal NAG was significantly reduced in the study groups , while citric acid was reduced in both azoospermic and oligospermic patients (p<.05).Semen fructose indicated conflicting level ,but within normal range .Significant correlation was noticed between NAG with both FSH and LH in azoospermia, and with prolactin and seminal Mg in oligospermia (r<.O5).2.7% of azoospermia had sertoli-syndrome , explained significant decreased in testosterone ,seminal NAG, citric acid Zn, and increased FSH. (P<.O5). 13% of the infertile have varcocele, recorded significant increased FSH,LH and decreased seminal NAG ,citric acid 8- Zn (p<. 0 5). 9.6% of the test groups had erecting and ejaculating problems. Characterized by significant increased in prolactin and Mn level.7.2% of the test groups are smokers, explained significant increase of both Cd and Pb in blood and semen, and reduced semen volume, NAG and Zn level (p<.05) Treatment of adult male rats with Cd, Pb caused hair loss and enlargement of the testes. Followed by significant increased of blood Cd , blood Pb, FSH and LH (p<.05), decreased testosterone and Zn (p< .O5).With blockage of spermatogenesis at seminiferous tubules level, maturation arrest ,and proliferation of the sertoli cell. Where as treatment with Zn, showed increased number of germs cells and developing spermatide .Mixing of Cd with Pb in one dose exacerbated the toxic action of this elements, caused decreased testosterone and Zn, increased FSH , LH and prolactin with deletion of the germ cell, and proliferation of the sertoli cells . While mixing of Zn with Cd and Pb , reduced the toxicity of this elements on fertility hormones, development of the germ cell, and proliferation of sertoli cells