This study aims at identifying common pathogenic somatic mutations at different stages of colorectal carcinogenesis in Egyptian patients. Our cohort included colonoscopic biopsies collected from 120 patients: 20 biopsies from patients with inflammatory bowel disease, 38 from colonic polyp patients, and 62 from patients with colorectal cancer. On top of this, the cohort included 20 biopsies from patients with non-specific mild to moderated colitis. Targeted DNA sequencing using a customized gene panel of 96 colorectal related genes running on the Ion Torrent NGS technology was used to process the samples. Our results revealed that 69% of all cases harbored at least one somatic mutation. Fifty-seven genes were found to carry 232 somatic non-synonymous variants. The most frequently pathogenic somatic mutations were localized in , , , and In total, 16 somatic mutations were detected in the CRC group and in either the IBD or CP group. In addition, our data showed that 51% of total somatic variants were CRC-specific variants. The average number of CRC-specific variants per sample is 2.4. The top genes carrying CRC-specific mutations are , , , , , and It seems obvious that and genes were the most affected genes with somatic mutations in all groups. Of interest, 85% and 28% of the and deleterious somatic mutations were located in Exon 14 and Exon 3, respectively. Besides, 37% and 28% of the total somatic mutations identified in and were CRC-specific variants, respectively. Moreover, we identified that, in 29 somatic mutations in 21 genes, their association with CRC patients was unprecedented. Ten detected variants were likely to be novel: six in and four variants in . The detected P53, Wnt/βcatenin, Angiogenesis, EGFR, TGF-β and Interleukin signaling pathways were the most altered pathways in 22%, 16%, 12%, 10%, 9% and 9% of the CRC patients, respectively. These results would contribute to a better understanding of the colorectal cancer and in introducing personalized therapies for Egyptian CRC patients.

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BACKGROUND: Blood pressure (BP) shows short-term variability within the 24 h, which can only be assessed with 24-h ambulatory blood pressure monitoring (ABPM). It is of utmost importance to control BP throughout the night to reduce incidence of hypertension complications. The purpose of this study is to evaluate the effect of timing and frequency of antihypertensive medications on the average nighttime and 24-h blood pressure control.

RESULTS: The study enrolled 199 hypertensive patients with controlled office blood pressure; 135 (67.8%) patients were on once daily antihypertensive medication (group 1) while 64 (32.2%) patients were on twice daily doses (group 2). The mean office SBP was 128.7 ± 7.8 mmHg in group 1 vs 129.6 ± 6.6 mmHg in group 2, (p = 0.421). ABPM readings for both groups were as follows: mean daytime SBP was 125.4 ± 11.6 mmHg vs 130.1 ± 12.9, p = 0.011; mean nighttime SBP was 117.0 ± 12.4 mmHg vs 123.1 ± 13.9 mmHg, p = 0.002, and mean 24-h SBP was 122.7 ± 10.6 mmHg vs 127.5 ± 12.0, p = 0.005. The prevalence of non-dipping was 68.9% in group 1 vs 70.3% in group 2 patients, p = 0.8 (the mean dipping ratio was 0.93 ± 0.08 in group 1 vs 0.95 ± 0.07 in group 2, p = 0.198). The prevalence of masked hypertension was higher in group 2 (28.1% vs 43.8%, p = 0.029).

CONCLUSION: Taking an extra antihypertensive pill at night did not show a decrease in the nighttime or the average 24H blood pressure in hypertensive patients with controlled office BP. On the contrary, patients who used twice daily antihypertensive medications seem to have higher nighttime and 24-h SBP, although the dipping ratio was comparable in both groups.

INTRODUCTION: There are diverse assessment tools for vitiligo, with no standardized approach that helps unify treatment outcome measures. Thus, comparing different treatment modalities and developing evidence-based recommendations for vitiligo management has been quite challenging.

OBJECTIVES: We compared the most commonly used tools assessing both vitiligo activity and extent, namely, Vitiligo Disease Activity Score (VIDA) and Vitiligo Area and Severity Index (VASI) score to their newly developed counterparts, namely, Vitiligo Extent Score Plus (VES plus) and Vitiligo Signs of Activity score (VSAS), to provide insights that would help set recommendations for a unified outcome assessment protocol for vitiligo patients.

METHODS: Thirty-six active non-segmental vitiligo cases were recruited, 30 of whom completed 48 sessions of narrow band ultraviolet B (NB-UVB). Patients were assessed for both extent and activity both before and after treatment with NB-UVB. Scores were correlated. Additionally, VES plus was assessed for its reliability in comparison to VASI score.

RESULTS: Both extent (VASI and VES plus) and activity scores (VIDA and VSAS) showed significant improvement following treatment. Additionally, VES plus and VASI were positively correlating both before and after treatment as well as their percent change. Furthermore, VES plus proved as reliable as VASI. Regarding activity scores, total, hypochromic and Koebner VSAS only correlated with VIDA following treatment. Confetti VSAS neither correlated with VIDA before nor after treatment.

CONCLUSIONS: VES plus and VASI scores have proven of comparable reliability. While examination-based VSAS score comes as an additive tool to the history-based VIDA score.