مرض الالتهاب المعدة والامعاء المتعدد العوامل في الاطفال الرضع == Infantile Gastroenteritis Multifactorial Disease
دراسة الدهون الاسفنجية النشطة بايولوجيا والانزيمات الاستقلابية في كل من تضخم البروستات الحميد وسرطان البروستات الخبيث == Bioactive Sphingolipids and metabolizing enzymes in patients with benign prostate hyperplasia and malignant prostate cancer
دراسة كيميائية حياتية لارتباط المستضد بضاده الحيوي في مرضى داء CA19 - الكاربوهيدراتي 9 السكري من النوع الثاني باستخدام مقايسة الممتز المناعي المرتبط بالانزيم مع بعض التحويرات == Biochemical Studies of the Binding of CA 19 - 9 to its Antibody in Patients with type 2 Diabetes Mellitus using Enzyme - Linked Immunosorbent Assay with some Modifications
صلاحية فحوصات الفسلجة العصبية بتنبؤ شدة متلاكمة غوليان باري وباستحقاق التنفس الاصطناعي == Validity of neurophysiological study in prediction of severity of Guillain - Barre syndrome and the indication for mechanical ventilation
تقييم التشخيص الكهروفسلجي الناتج عن خلل الوظيفة اللا ارادية في مرضى داء السكري == ELECTRODIAGNOSTIC EVALUATION OF AUTONOMIC DYSFUNCTION IN DIABETES MELL
تاثير الخدمات الصحية على وفيات الولدان في بغداد 2012 - 2016 == The Impact of Health Services on Neonatal Deaths in Baghdad, 2012 - 2016
متلازمة القولون المتهيج بين طلاب المدارس الثانوية : نسبة الانتشار والاسباب 2017 - 2018 == Irritable Bowel Syndrome Among High School Students : Prevalence and Determinants 2017 - 2018
مستوى فيتامين د والكالسيوم في مصل الدم لدى النساء الحوامل اللواتي يعانين من القئ المفرط الحملي في مستشفى بغداد التعليمي == Serum Vitamin D and Calcium levels in Pregnant Women with Hyperemesis Gravidarum at Baghdad Teaching Hospital
الدور الحتمل لكشف المستضد كالتومانان في مجال التشخيص المختبري من الرشاشيات الهوائية في مرضى نقص المانعة == The possible role of galactomannan antigen detection in laboratory diagnosis of invasive Aspergillosis in immunocompromised patients
التحليل الجزيئي للجين CYP21A2 في المرضى العراقيين المصابين بتضخم الغدة الكظرية الولادي == Molecular Analysis of CYP21A2 Gene in Iraqi Patients with Congenital Adrenal Hyperplasia
Author name:
رقية غياث ياسين العبيدي
Supervisor name:
بسام موسى صادق الموسوي
Abstract:
Background : Congenital adrenal hyperplasia (CAH) is a group of autosomal - recessive disorders that result from a genetic defect in the pathway of steroidogenesis. The most common type is 21 - hydroxylase enzyme deficiency (21 - OHD), which accounts for 90 - 95% of cases and is categorized into two clinical forms : severe classic early onset (salt wasting and simple virilizing) and milder non - classic late onset forms. The molecular analysis of mutations affecting CYP21A2 gene coding for 21 - OH enzyme was not tried earlier in Iraqi patients.Aim of Study : To analyze the commonly expected mutations affecting CYP21A2 gene causing 21 - hydroxylase and thus congenital adrenal hyperplasia in Iraqi children and to determine the frequency of each type and their clinical impact.Patients, Materials & Methods : Fifty - four children with a clinical diagnosis of CAH were recruited from the Pediatric Endocrine Consultation Clinic / Children Welfare Hospital - Baghdad and the Genetic Consultation Clinic - Teaching Laboratories / Medical City - Baghdad during the period between September 14th, 2014 and March 14th, 2015. The clinical diagnosis of 21 - hydroxylase deficiency was made when the patients presented with ambiguous genitalia in females with or without dehydration, or vomiting and dehydration with normal male phenotype early in life, or pseudo - precocious puberty later in life.Peripheral blood samples were collected from all patients. Two samples were taken from those with ambiguous genitalia; one for chromosomal analysis and sex determination and the other for DNA analysis. For the other cases, a single sample was taken for DNA analysis.The other tests, namely electrolytes and hormonal assessment were sent for to be performed by another laboratory (governmental or private).Two cases with ambiguous genitalia showing male karyotypes were excluded from this study as they do not fit in the criteria of 21OHD.Molecular analysis of CYP21A2 gene was performed by PCR amplification using biotinylated primers and hybridization of amplification products to a test strip containing allele - specific oligonucleotide probes immobilized as an array of parallel lines. The bound biotinylated sequences are detected using streptavidin - alkaline phosphatase and color substrates according to the manufacturers’ instructions.Results : CYP21A2 gene was analyzed by CAH StripAssay® for detection of 11 common point mutations, and 50% of deletions and conversions in all 52 cases. Mutations (point mutations and deletions/conversions) were detected in 36 (69.2%) cases while 16 (30.8%) cases had undetected mutations. The most frequent mutations were : large deletions / conversions in 11 (21.15%), Q318X in 7 (13.46%), I2 Splice in 6 (11.54%), I172N in 5 (9.6%), Del 8bp in 1 (1.9%), V281L in 2 (3.85%), P453S in 1 (1.9%), R483P in 1 (1.9%) and multiple mutations in 2 cases (3.85%). Among those with large deletions/conversions, deletion/conversion (P30L, I2Splice, Del8bp) found in 3 (5.8%) cases, Deletion/conversion (P30L, I2 Splice, Del8bp, I172N) in 2 (3.85%) cases, Deletion/conversion (Cluster E6, V281L, L307 frameshift, Q318X, R356W) in 4 (7.7%) cases, complete gene deletion in 2 (3.85%) cases.Four mutations (namely P30L, R356W, Cluster E6, L307 frameshift) were not detected in any of our cases.Most cases demonstrated good correlations between genotypes and phenotypes. In the salt wasting group, the correlation was found in all cases with homozygous genotype, while among the simple virilizing group, the concordance of genotype/phenotype was found in all cases of group B (5 cases with homozygous I172N) and the single case in group A (homozygous I2 Splice), while it was absent in group null (one case withhomozygous deletion/conversion) and in group C (one case with homozygous V281L).Conclusions : 1. The majority of 21 - hydroxylase deficiency cases were females presented early in life with ambiguous genitalia with/without salt losing crisis, while a smaller number of patients were males with normal genitalia and salt wasting with/without precocious puberty; the patients have a high rate of parental consanguinity.2. There is a diversity of mutations affecting CYP21A2 gene in Iraqi 21 - hydroxylase deficiency patients, with a good percentage of undetected mutations.3. The diagnosis of 21 - OHD in CAH patients will be made more accurate when based on results of molecular testing.4. The data of molecular studies are useful in genetic counseling, in prenatal diagnosis and offering accurate treatment plan during pregnancy and in detection of carriers in families having previously affected child, diminishing the complications for these families
علاقه بعض الحالات المرضيه بالاختلافات التشريحيه للقنوات الصفراويه في العراقيين باستخدام الرنين المغناطيسي الراسم للقنوات الصفراء والبنكرياس == Association of Some Pathological Conditions with the Anatomical Variations of the Biliary System in Iraqi People Using Magnetic Resonance Cholangiopancreatography(MRCP)
تقييم الهبسدي الفيريتين بروتين سي التفاعلي لدى مرضى فقر الدم للمرحلة النهائية للفشل الكلوي == Assessment of Hepcidin, Ferritin and CRP in Anemic End Stage Renal Disease Patients on Hemodialysis
Author name:
ضلال صيول حسن
Supervisor name:
هيثم احمد الربيعي | رائد احمد الربيعي
Abstract:
Chronic kidney disease (CKD) is defined as kidney damage or glomerular filtration rate (GFR) <60 mL/min/1.73 m2 for 3 months or more.End stage renal disease corresponds to stage 5 chronic kidney disease with glomerular filtration rate <15 ml/min/1.73m2, all these patients require hemodialysis.Anemia of chronic disorders is a common normochromic or mildly hypochromic anemia that occurs in patients with chronic kidney disease.It is characterized by a reduced serum iron and iron binding capaci ty and normal or raised serum ferritin with adequate iron stores. The main cause of anemia is deficient erythropoietin synthesis. Blood loss is also a major contributory factor. Hepcidin plays a key role as mediator of anemia of inflammation.Aim of the study1 - To assess the types of anemia in end stage renal failure.2 - To compare the inflammatory parameters including hepcidin, ferritin, C - reactive protein and erythrocyte sedimentation rate between the two vascular accesses of hemodialysis (double lumen and arteriovenous fistula).Materials and methods This case control study was conducted at Al - Hayat center for hemodialysis in Al - Karama hospital, Baghdad, Iraq over 3 months from 1 November 2013 to 31 January 2014. The study populations consist of 60 [III]patients (44 males and 16 females). All patients were adult with documented end stage chronic kidney disease stage 5 on repeated hemodialysis with different durations of illness (1 month - 10 years).Hemodialysis patients were also divided into two groups depending on the vascular access of hemodialysis (double lumen and arteriovenous fistula).The following data were analyzed for all patients : Age, gender, history of hypertension and diabetes mellitus, causes of renal failure, vascular access, duration and frequency of hemodialysis. Complete blood counts, blood film and reticulocyte percentage by auto analyzer machine. Blood urea, serum albumin, serum creatinine, and transferrin saturation percentage, serum hepcidin, ferritin, C - reactive protein by clinical chemistry analyzer. erythrocyte sedimentation rate Twenty normal healthy individuals (age and sex matched) had been included as a control group in this study. All were subjected to the same investigations of the patients.ResultsThe vascular access of hemodialysis was ʺarteriovenous fistulaʺ in (61.7%) of the patients and "double lumen" in (38.3%) of them. The mean duration of hemodialysis was (18.6 ± 2.5) months (range : 1 month - 10 years), high proportion (28.3%) of the patients were on hemodialysis for a duration of 11 - 15 months.There was a significant decrease of absolute lymphocyte count, red blood cell count, hematocrit, hemoglobin and platelets count in patients than controls, but there were insignificant differences for total white blood cell count, absolute neutrophil count and mean corpuscular volume.Also there was a significant increase of red cell distribution width levels in patients than controls (14.8 ± 1.9 vs. 13.3 ± 1.6 respectively), p<0.05.According to the levels of hemoglobin, anemia was reported in 95% of the 60 end stage renal disease. Anemia of chronic disorders was the most frequent type of anemia (45%) among the patients, iron deficiency anemia was found in only (11.7%) while combined anemia was found in (25%), and others who had not any type of previous types of anemia (13.3%). No significant difference was observed between anemic and non - anemic patients according to the vascular accesses of hemodialysis.The mean serum level of hepcidin for patients was (186.1± 28.4 ng/ml) and for controls was (4.7 ±0.9 ng/ml) with a significant difference between both groups. The mean serum ferritin level of the patients (280.8 ± 53.1 ng/ml) was significantly higher than controls, (83.6 ± 14.5). The mean serum C - reactive protein level was higher in patients than control, (8.6 ± 1.1 vs. 3.0 ± 0.2 mg/l) respectively, furthermore, the mean erythrocyte sedimentation rate level was higher in patients (42.3 ± 4.7 mm/1st hr.) than that of controls (6.2 ± 0.8).There was no significant association between levels of hepcidin, hemoglobin, ferritin, C - reactive protein and erythrocyte sedimentation rate of the patients with the duration of hemodialysis. There was no significant difference in the mean levels of hepcidin, ferritin, C - reactive protein and erythrocyte sedimentation rate of the patients according to the vascular accesses of hemodialysis, while there was a significant difference regarding the hemoglobin level. The mean C - reactive protein of patients with serum ferritin level ≥ 800 ng/ml was (16.5 ± 4.2 mg/L) and for those with serum ferritin level < 800 ng/ml it was (7.6 ± 1.1 mg/L), however, the difference
فعاليه جهاز مفراس القلب الملون في تشخيص امراض الشرايين التاجيه في بغداد / العراق 2013 == ACCURACY OF CORONARYCOMPUTED TOMOGRAPHY ANGIOGRAPHY IN THE DIAGNOSIS OF CORONARY ARTERY DISEASE, BAGHDAD - IRAQ, 2013
تحديد وحساب الخلايا البلعميه المعلمة بمادة (CD68) في مشيمية النساء الحوامل طبيعيا والمصابات بارتفاع الضغط الحملي == CD68 - labelled macrophages localization and counting in placentas of normal and pre - eclamptic women
تقييم التاثيرات الفيزيولوجية لحوض ماء ال (CO2) على القدم السكري == Evaluation of physiological Effect of (CO2) Water bath on diabetic Foot
تتبع مسار الارومات العصبية من منطقة ما تحت البطين باتجاه البصلة الشمية في ادمغة الفئران البالغة == TRACING THE PATHWAY OF THE NEUROBLASTS FROM THE SUBVENTRICULAR ZONE TO THE OLFACTORY BULB IN THE ADULT MICE BRAINS
البريكابالين مقابل اميتريبتيلين في علاج فيبروميالجيا في المرضى العراقيين : دراسه مقارنه مزدوجه التعميه == Pregabalin Versus Amitriptyline in the Treatment of Fibromyalgia in Iraqi Patients (A Double Blind Comparative Study
دراسة تاثير استخدام بعض الادوية والنباتات الطبية في منع او تقليل شدة التكلس الكلوي التجريبي في الارانب == A STUDY OF THE EFFECT OF SOME DRUGS AND MEDICINAL PLANTS IN PREVENTION OR ATTENUATION OF INDUCED NEPHROCALCINOSIS IN RABBITS
تاثير علاج CD 20 inhibitors مقارنة بعلاج TNF ? inhibitors IL - على 17 في مرضى التهاب المفاصل الروماتويدى الفعال == Effects of CD20 Inhibitor Therapy in Comparison to TNF ? Inhibitor Therapy on Serum IL - 17 in Patients with Active Rheumatoid Arthritis
دراسة كيميانسيجية مناعية لمعرفة التغيير العددي والسلوكي للخلايا الجذعية في المعدة لبعض الحالات المرضية == Immunohistochemical study to identify the changes in number and behavior of gastric stem cells in some pathological conditions
البحث عن طفرة JAK2 وتحديد مستوى الارثروبويتين لمتبرعي الدم الذين لديهم حجم عالي لخلايا الدم الحمراء المضغوطة == Detection of JAK2 V617F Mutation and Estimation of Serum Erythropoietin among Blood Donors with High Hematocrit
تقيين مدى فعالية قياس درجة الكالسيوم في تشخيص مرضى الشريان التاجي == The evaluation of calcium score validity in the diagnosis of patients with coronary artery disease
الكشف عن المعاملات السرطانية (مستضد السرطان 15 - 3 ومعامل السرطان 21 - 1) لدى النساء العراقيات المصابات بسرطان الثدي == Detection of Cytokeratin 19 fragment (TM 21 - 1) and CA 15 - 3 tumor markers in Iraqi women with breast cancer
الكشف عن العلامات السطحية باستخدام تقنية التدفق الخلوي عند المرضى العراقيين المصابين بالداء الزلاقي == DETECTION OF SURFACE MARKERS BY FLOW CYTOMETRY IN IRAQI PATIENTS WITH COELIAC DISEASE
تقييم مصل الابلين في المرضى الذين يعانون من المتلازمة التاجية الحادة == Evaluation of Serum Apelin in Patients with Acute Coronary Syndrome