Characterizing the morbid genome of ciliopathies

Background Ciliopathies are clinically diverse disorders of the primary cilium. Remarkable progress has been made in understanding the molecular basis of these genetically heterogeneous conditions; however, our knowledge of their morbid genome, pleiotropy, and variable expressivity remains incomplete. Results We applied genomic approaches on a large patient cohort of 371 affected individuals from 265 families, with phenotypes that span the entire ciliopathy spectrum. Likely causal mutations in previously described ciliopathy genes were identified in 85% (225/265) of the families, adding 32 novel alleles. Consistent with a fully penetrant model for these genes, we found no significant difference in their “mutation load” beyond the causal variants between our ciliopathy cohort and a control non-ciliopathy cohort. Genomic analysis of our cohort further identified mutations in a novel morbid gene TXNDC15, encoding a thiol isomerase, based on independent loss of function mutations in individuals with a consistent ciliopathy phenotype (Meckel-Gruber syndrome) and a functional effect of its deficiency on ciliary signaling. Our study also highlighted seven novel candidate genes (TRAPPC3, EXOC3L2, FAM98C, C17orf61, LRRCC1, NEK4, and CELSR2) some of which have established links to ciliogenesis. Finally, we show that the morbid genome of ciliopathies encompasses many founder mutations, the combined carrier frequency of which accounts for a high disease burden in the study population. Conclusions Our study increases our understanding of the morbid genome of ciliopathies. We also provide the strongest evidence, to date, in support of the classical Mendelian inheritance of Bardet-Biedl syndrome and other ciliopathies

The Prevalence of Anxiety and Depression in Arab Dermatology Patients

Background Psychiatric disorders are common among patients with physical illnesses. Objectives To estimate the prevalence of anxiety and depression in Arab dermatology patients and to study its association with the patients’ characteristics. Materials and Methods A cross-sectional study was carried out on 875 patients attending the Dermatology Clinic at King Khalid University Hospital in Riyadh, Saudi Arabia. Each patient was asked to complete the Hospital Anxiety and Depression Scale and the demographic-clinical questionnaire. Results The frequency of anxiety and depression in Arab dermatology patients was 29% for anxiety and 14% for depression. These frequencies were not related to sociodemographic and clinical variables (p &gt; .05), except skin disease type (p &lt; .05). Patients suffering from hair loss had the highest anxiety and depression scores (OR 1.725 [95% CI 1.247-2.386] and OR 1.686 [95% CI 1.101-2.581], respectively). On the other hand, patients suffering from psoriasis had the highest depression scores (OR 2.909 [95% CI 1.611-5.254]). Conclusion Anxiety and depression are frequent among Arab dermatology patients. </jats:sec

Pigmenting pityriasis alba: Case report and review of the literature

AbstractPigmenting pityriasis alba is a rare variant of pityriasis alba. We present a 10-year-old Saudi girl with multiple hypopigmented scaly patches with central bluish hyperpigmentation over the face of one year duration. Histological examination revealed features of pigmenting pityriasis alba. The condition was not associated with dermatophyte infection or classic pityriasis alba. Twelve-week course of 1% hydrocortisone cream resulted in clearance of the lesions

Micropulse transscleral cyclophotocoagulation (MP-CPC): efficacy endpoints for the treatment of refractory paediatric glaucoma - a retrospective case-series

Abstract Background This study evaluates the efficacy and safety of micropulse transscleral cyclophotocoagulation (MP-CPC) in paediatric patients. Methods This retrospective case-series recruited 44 eyes for glaucoma patients who were younger than 17 years and were treated with MP-CPC and followed for at least one year. Pre- and post-intervention intraocular pressure (IOP) was compared out to at least one year postoperatively. Success rates at 6 months and 1 year postoperatively were assessed. P < 0.05 was considered statistically significant. Results There were 35 (79.5%) eyes with a history of glaucoma surgery. IOP decreased statistically significantly from a baseline of 32.7 (standard deviation:8.7 mmHg) to 23.2 (8.6) and 21.7 (7.9) mmHg at the 6 months and 1-year follow-up, respectively (P < 0.0001, all comparisons). Overall success was noted in 19 (47.5%) eyes at the 6 months follow-up, and 23 (53.5%) eyes at 1 year. Conclusions MP-CPC reduces IOP and the burden of medications in paediatric patients with glaucoma. Additionally, its safety profile favours the use of MP-CPC as an adjunctive modality for refractory glaucoma

Frequency of Leakage after Surgery Following Leak Test during Laparoscopic Sleeve Gastrectomy

Background: Leakage after laparoscopic sleeve gastrectomy is a serious hazard, recorded in 0-8% of patients. Leak test during surgery with methylene blue seeks to decrease postsurgical leakage. Aim: To evaluate the effect of MB leak test to recognize leakage following LSG. Methods: Our prospective, double-blinded, randomized investigation enrolled 400 participants, aged 27-39 years, of both sexes, with BMI of 38-46 kg/m2, scheduled for LSG in Jordan during the period Jan 2021-Jan 2022. Participants were randomly divided into Group A (n=200) without LTDS, and group B (n=200) with MB LTDS. Group B participants had pylorus laparoscopically closed with a bowel clamp, and the stomach was filled with 50 ml of MB, administered via the orogastric bougie. Postsurgical leakage for both groups was determined by the presence of MB at staple line during surgery, radiologically spotted with contrasting extravasation from the staple line after surgery, and the presence of saliva in the drain. Categorical parameters between groups were analyzed using Pearson’s Chi-square test, and discrepancies between groups in non-normally continuous parameters were analyzed using the Mann-Whitney U-test. Results: The groups had the same leakage frequency (1.5%, P&gt;0.05). Group A had leakage in 3 participants (1.5%) in the fundus; Group B had leakage in 3 participants (1.5%) in the fundus (n=1) and antrum (n=2). Conclusion: The use of LTDS did not decrease the frequency of postsurgical leakage, undermining universal applicability.</jats:p