No abstract

BackgroundUltrasonography (US) is being recognized as a traditional way of the diagnosis of various thyroid disorders, and this will help in detecting the thyroid tumors in early stage. Thyroid nodules are common and usually benign; steps to diagnose malignancy should include a careful clinical evaluation, laboratory tests, a thyroid US exam and a fine-needle aspiration (FNA) biopsy.MethodsA total of 173 registered cases were used for analysis in this study. Diagnosis was made following US-guided FNA cytology (FNAC) and histopathological diagnosis; clinicopathological and demographic data of all such patients were obtained and analyzed for the present study. For statistical analysis, Statistical Package of Social Sciences v.22 (SPSS) was used.ResultsIn the current study, 87.3% of patients were female, and 12.7% were male. The mean age of the patients was 43.35 years, 86.4% were Saudi nationals and there was no significant difference between age groups. Overall, the distribution of lesions in all age groups was 41.6% in the right lobe, 9.3% lesions were adenomatous, 71.1% were colloid, and 10.4% were lymphocytic. The final diagnosis of thyroid lesions was confirmed after histopathological examinations. Out of 173 cases, 12.6% (20 cases) of male patients and 87.4% (139 cases) of female patients had benign lesions, respectively. Only one male case was malignant, and seven cases were malignant in female group. Eighty percent of males and 77.7% females have colloid nodules, and 15% of males and 9.3% of females have adenomatous nodules. Four cases were non-diagnostic, one case was atypia in females, and one case was suspicious of malignancy in a male.ConclusionsMost thyroid lesions in this study population were benign, while papillary carcinoma was the most common malignancy encountered. There was a marked female predominance in all types of thyroid diseases. The most common age group affected is 30 - 39 years. In Saudi Arabia, growing prevalence of thyroid cancer may be due to the increased screening using sensitive imaging in clinical practice, and ultrasonography is the most accurate and cost-effective method for detecting thyroid lesions.

Ependymomas are glial tumors derived from differentiated Background: ependymal cells. In contrast to other types of brain tumors, histological grading is not a good prognostic marker for these tumors. In order to determine genomic changes in an anaplastic ependymoma, we analyzed its mutation patterns by next generation sequencing (NGS).Tumor DNA was sequenced using an Ion PI v3 chip on Ion PubMed Abstract | Publisher Full Text | Free Full Text 3. Wesseling P, Capper D: WHO 2016 Classification of gliomas. Neuropathol Appl Neurobiol. 2018; 44(2): 139-150. PubMed Abstract | Publisher Full Text 4. Ostrom QT, Gittleman H, Fulop J, et al.: CBTRUS Statistical Report: Primary Brain and Central Nervous System Tumors Diagnosed in the United States in 2008-2012. Neuro Oncol. 2015; 17 Suppl 4: iv1-iv62. PubMed Abstract | Publisher Full Text | Free Full Text 5. Zamora C, Huisman TA, Izbudak I: Supratentorial Tumors in Pediatric Patients. Neuroimaging Clin N Am. 2017; 27(1): 39-67. PubMed Abstract | Publisher Full Text 6. Kilday JP, Rahman R, Dyer S, et al.: Pediatric ependymoma: biological perspectives. Mol Cancer Res. 2009; 7(6): 765-786. PubMed Abstract | Publisher Full Text 7. Hamilton RL, Pollack IF: The molecular biology of ependymomas. Brain Pathol. 1997; 7(2): 807-822. PubMed Abstract | Publisher Full Text 8. Horn B, Heideman R, Geyer R, et al.: A multi-institutional retrospective study of intracranial ependymoma in children: identification of risk factors. J Pediatr Hematol Oncol. 1999; 21(3): 203-211. PubMed Abstract | Publisher Full Text 9. Spoto GP, Press GA, Hesselink JR, et al.: Intracranial ependymoma and subependymoma: MR manifestations. AJR Am J Roentgenol. 1990; 154(4): 837-845. PubMed Abstract | Publisher Full Text 10. Andrade FG, de Aguiar PH, Matushita H, et al.: Intracranial and spinal ependymoma: series at Faculdade de Medicina, Universidade de São Paulo. Arq Neuropsiquiatr. 2009; 67(3A): 626-632. PubMed Abstract | Publisher Full Text 11. Vera-Bolanos E, Aldape K, Yuan Y, et al.: Clinical course and progression-free survival of adult intracranial and spinal ependymoma patients. Neuro Oncol. 2015; 17(3): 440-447. PubMed Abstract | Publisher Full Text | Free Full Text 12. Milano MT, Johnson MD, Sul J, et al.: Primary spinal cord glioma: a Surveillance, Epidemiology, and End Results database study. J Neurooncol. 2010; 98(1): 83-92. PubMed Abstract | Publisher Full Text 13. Louis DN, Perry A, Reifenberger G, et al.: The 2016 World Health Organization Classification of Tumors of the Central Nervous System: a summary. Acta Neuropathol. 2016; 131(6): 803-820. PubMed Abstract | Publisher Full Text 14. Leeper H, Felicella MM, Walbert T: Recent Advances in the Classification and Treatment of Ependymomas. Curr Treat Options Oncol. 2017; 18(9): 55. PubMed Abstract | Publisher Full Text 15. Hirose Y, Aldape K, Bollen A, et al.: Chromosomal abnormalities subdivide ependymal tumors into clinically relevant groups. Am J Pathol. 2001; 158(3): 1137-1143. PubMed Abstract | Publisher Full Text | Free Full Text 16. Ross GW, ...

Choroid plexus papilloma (CPP) is a rare benign tumor of the central nervous system that is usually confined to the cerebral ventricles. According to the World Health Organization, CPP corresponds to a grade I atypical CPP (a-CPP); however, it can become more aggressive and reach grade II, which can rarely undergo malignant transformation into a choroid plexus carcinoma (grade III). To the best of our knowledge, identification of these tumors mutations by next generation DNA sequencing (NGS) has not been yet reported. In the present study, NGS analysis of an a-CPP case was performed. Data were analyzed using Advaita Bioinformatics i-VariantGuide and Ion Reporter 5.6 programs. The results from NGS identified 12 novel missense mutations in the following genes: NOTCH1, ATM, STK36, MAGI1, DST, RECQL4, NUMA1, THBS1, MYH11, MALT1, SMARCA4 and CDH20. The PolyPhen score of six variants viz., DST, RECQL4, NUMA1, THBS1, MYHI1 and SMARCA4 were high, which suggested these variants represents pathogenic variants. Two novel insertions that caused frameshift were also found. Furthermore, two novel nonsense mutations and 14 novel intronic variants were identified in this tumor. The novel missense mutation detected in ATM gene was situated in c.5808A>T; p. (Leu1936Phe) in exon 39, and a known ATM mutation was in c.5948A>G; p. (Asn1983Ser). These novel mutations had not been reported in previous database. Subsequently, the quality statistics of these variants, including allele coverage, allele ratio, P-value, Phred quality score, sequencing coverage, PolyPhen score and alleles frequency was performed. For all variants, P-value was highly significant and the Phred quality score was high. In addition, the results from sequencing coverage demonstrated that 97.02% reads were on target and that 97.88% amplicons had at least 500 reads. These findings may serve at determining new strategies to distinguish the types of choroid plexus tumor, and at developing novel targeted therapies. Development of NGS technologies in the Kingdom of Saudi Arabia may be used in molecular pathology laboratories.

BACKGROUNDThreat to blood transfusion–transmitted dengue virus (DENV) and its antibodies has recently emerged worldwide. Dengue fever is an endemic disease in Saudi Arabia, particularly in its Western region. The aim of this study was to estimate the seroprevalence of asymptomatic DENV infection and its antibodies among eligible Saudi blood donors.METHODSSerum samples from 910 healthy/eligible adult male Saudi blood donors, who reside in Holy Makkah City of Saudi Arabia, were collected between March 2015 and August 2016 and screened for the detection of DENV nonstructural protein 1 (NS1) antigen and anti-DENV IgM and IgG antibodies using commercial enzyme-linked immunosorbent assay kits (Panbio, Brisbane, QLD, Australia).RESULTSAmong the tested donors, 48 (5.3%) were seropositive for DENV-NS1 antigen, whereas 50 (5.5%) and 354 (38.9%) were seropositive for anti-DENV IgM and IgG antibodies, respectively. Seropositivity for DENV-NS1 antigen and/or anti-DENV IgM antibody among the tested donors reflects their ongoing asymptomatic viremic infectious stage with DENV during their donation time, whereas high prevalence of anti-DENV IgG seropositivity reflects the high endemicity of dengue disease in this region of Saudi Arabia.CONCLUSIONSThese results show high prevalence of asymptomatic DENV infection and its antibodies among Saudi blood donors, raising the importance of establishing blood screening for dengue disease at different blood donation services and units in Saudi Arabia to improve the guarantee of blood transfusions and to control DENV dissemination.