Table of contents O1 Regulation of genes by telomere length over long distances Jerry W. Shay O2 The microtubule destabilizer KIF2A regulates the postnatal establishment of neuronal circuits in addition to prenatal cell survival, cell migration, and axon elongation, and its loss leading to malformation of cortical development and severe epilepsy Noriko Homma, Ruyun Zhou, Muhammad Imran Naseer, Adeel G. Chaudhary, Mohammed Al-Qahtani, Nobutaka Hirokawa O3 Integration of metagenomics and metabolomics in gut microbiome research Maryam Goudarzi, Albert J. Fornace Jr. O4 A unique integrated system to discern pathogenesis of central nervous system tumors Saleh Baeesa, Deema Hussain, Mohammed Bangash, Fahad Alghamdi, Hans-Juergen Schulten, Angel Carracedo, Ishaq Khan, Hanadi Qashqari, Nawal Madkhali, Mohamad Saka, Kulvinder S. Saini, Awatif Jamal, Jaudah Al-Maghrabi, Adel Abuzenadah, Adeel Chaudhary, Mohammed Al Qahtani, Ghazi Damanhouri O5 RPL27A is a target of miR-595 and deficiency contributes to ribosomal dysgenesis Heba Alkhatabi O6 Next generation DNA sequencing panels for haemostatic and platelet disorders and for Fanconi anaemia in routine diagnostic service Anne Goodeve, Laura Crookes, Nikolas Niksic, Nicholas Beauchamp O7 Targeted sequencing panels and their utilization in personalized medicine Adel M. Abuzenadah O8 International biobanking in the era of precision medicine Jim Vaught O9 Biobank and biodata for clinical and forensic applications Bruce Budowle, Mourad Assidi, Abdelbaset Buhmeida O10 Tissue microarray technique: a powerful adjunct tool for molecular profiling of solid tumors Jaudah Al-Maghrabi O11 The CEGMR biobanking unit: achievements, challenges and future plans Abdelbaset Buhmeida, Mourad Assidi, Leena Merdad O12 Phylomedicine of tumors Sudhir Kumar, Sayaka Miura, Karen Gomez O13 Clinical implementation of pharmacogenomics for colorectal cancer treatment Angel Carracedo, Mahmood Rasool O14 From association to causality: translation of GWAS findings for genomic medicine Ahmed Rebai O15 E-GRASP: an interactive database and web application for efficient analysis of disease-associated genetic information Sajjad Karim, Hend F Nour Eldin, Heba Abusamra, Elham M Alhathli, Nada Salem, Mohammed H Al-Qahtani, Sudhir Kumar O16 The supercomputer facility “AZIZ” at KAU: utility and future prospects Hossam Faheem O17 New research into the causes of male infertility Ashok Agarwa O18 The Klinefelter syndrome: recent progress in pathophysiology and management Eberhard Nieschlag, Joachim Wistuba, Oliver S. Damm, Mohd A. Beg, Taha A. Abdel-Meguid, Hisham A. Mosli, Osama S. Bajouh, Adel M. Abuzenadah, Mohammed H. Al-Q...

Background: Diabetic ketoacidosis (DKA) is a potentially life threatening acute complication of Type I diabetes mellitus (T1DM). This study aimed to determine the frequency and clinical characteristics of pediatric DKA at diagnosis of new-onset T1DM in Khartoum during 2000- 2017 period. Methods: The study was retrospective and involved review of medical files of children (<15 years) with T1DM in the city hos- pitals and diabetes centers. Results: The overall frequency of DKA among T1DM children at onset of disease diagnosis was 17.6% (173/982). The epi- sodes of DKA increased from 26% in first 6- year period (2000-2005) to 46.3% in the last 6-year period (2011-2012; p<0.001). No significant difference in the frequency of DKA was observed according to gender (p=0.9) and age (p=0.24). Compared to other age groups, the severity of DKA (pH<7.1) was higher in pre-school children (p<0.01). Approximately, 5% of patients were complicated with cerebral edema with a mortality rate of 1.7%. Conclusion: The DKA frequency at diagnosis of childhood T1DM in Khartoum was lower than previous reports. In addition, the severity of DKA was high among pre-school age children with a relatively high mortality rate when compared to the global rate. Keywords: Ketoacidosis; mortality; onset; DKA; T1DM; Sudan; Khartoum.

Hepatocellular carcinoma (HCC) is a common complication in patients with chronic viral hepatitis and liver cirrhosis. Detection of HCC at an early stage is critical for a favorable clinical outcome. This is a case-control, hospital-based study, aimed to determine the usefulness of Lens Culinaris Agglutinin-Reactive Fraction of Alpha Fetoprotein (AFP-L3) as an early diagnostic marker for HCC in Sudanese Patients with chronic liver diseases. Blood samples were collected from 25 patients with HCC, 32 patients with chronic liver diseases (cirrhosis and chronic HBV/HCV), and 30 healthy individuals as control. AFP-L3 and Total Alpha Fetoprotein (T.AFP) were measured by immunometric assay. AFP-L3 and T.AFP were elevated in all patients (chronic liver disease and HCC patients). Both markers were found to be elevated with the increase of tumor size, and with presence of focal liver lesion (being elevating with the increase of number of lesions).Both markers showed to be elevated until a year after onset of the disease, then, decreased by time. AFP-L3 and T.AFP were positively correlated with the increase of patient's age, but no significant difference was found between males and females in all types of patients. AFP-L3 is more specific for HCC, this encourage us to use AFP-L3 as adjunct marker for HCC diagnosis.

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Background. Hemophilia (HB) is an X-linked, recessive bleeding disorder characterized by the deficiency or absence of the coagulation factor IX. Usually, females are carriers of the trait, while males are affected. FIX deficiency leads to uncontrollable bleeding events, and the severity is dependent on the levels of the clotting factor. The objective of this research was to measure the prevalence of bleeding tendency in Sudanese carriers of HB. Materials and Methods. In this cross-sectional study, 88 Sudanese carriers of HB participated. The activated partial thromboplastin time test (APTT) and FIX test were performed for each carrier. The frequencies of DNA polymorphism and FIX-linked restriction fragments BamHI, HhaI, and MnII were also assessed. The study was conducted in Khartoum, Sudan, during the period from 2015 to 2017. Results. The study showed that 55 (62.5%) HB carriers were from the Laban village in the White Nile State, and all of them were members of the Shinkheb tribe. The mean age of the study population was 26.3 years. Among the carriers, 57 (64.7%) had abnormal coagulation profiles. The mean value of the APTT level among carriers was significantly increased ( P value: 0.000), while the mean concentration of the FIX levels among the carriers was significantly decreased ( P value: 0.000). The study also showed a negative correlation between PTT and F assay with P value of 0.000 and R value of 0.578. Conclusion. The APTT is high in most carriers and the FIX assay level is low in most carriers. Most carriers had no symptoms and were not bleeding. The Shinkheb tribe is the most ethnic tribe carrying HB (62.5%). HhaII is more informative for carrier detection than others, but it is of significant value if both (MnII and HhaII) were performed in parallel. In Sudanese, BamHI was informative but MnII and HhaII were best in the mutation detection and for prenatal diagnosis.