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Background Inherited retinal dystrophies (IRDs) are characterized by extreme genetic and clinical heterogeneity. There are many genes that are known to cause IRD which makes the identification of the underlying genetic causes quite challenging. And in view of the emergence of therapeutic options, it is essential to combine molecular and clinical data to correctly diagnose IRD patients. In this study, we aimed to identify the disease‐causing variants (DCVs) in four consanguineous Jordanian families with IRDs and describe genotype–phenotype correlations. Methods Exome sequencing (ES) was employed on the proband patients of each family, followed by segregation analysis of candidate variants in affected and unaffected family members by Sanger sequencing. Simulation analysis was done on one novel CLRN1 variant to characterize its effect on mRNA processing. Clinical evaluation included history, slit‐lamp biomicroscopy, and indirect ophthalmoscopy. Results We identified two novel variants in CLRN1 [(c.433+1G>A) and (c.323T>C, p.Leu108Pro)], and two recurrent variants in ABCA4 [(c.1648G>A, p.Gly550Arg) and (c.5460+1G>A)]. Two families with the same DCV were found to have different phenotypes and another family was shown to have sector RP. Moreover, simulation analysis for the CLRN1 splice donor variant (c.433+1G>A) showed that the variant might affect mRNA processing resulting in the formation of an abnormal receptor. Also, a family that was previously diagnosed with nonsyndromic RP was found to have Usher syndrome based on their genetic assessment and audiometry. Conclusion Our findings extend the spectrum of CLRN1‐ and ABCA4‐associated IRDs and describe new phenotypes for these genes. We also highlighted the importance of combining molecular and clinical data to correctly diagnose IRDs and the utility of simulation analysis to predict the effect of splice donor variants on protein formation and function., We identified novel and recurrent CLRN1 and ABCA4 disease‐causing variants in four Jordanian families with inherited retinal dystrophies. One of the ABCA4 variants was found in two unrelated families but surprisingly caused two different phenotypes.

Background: Postoperative dynamic pain is often associated with increased morbidity and hospital stays. Thoracic epidural analgesia is the gold standard for postoperative pain control in patients with upper abdominal surgeries, providing significant improvements in dynamic pain scores and early mobilisation. The primary objective of this study is to evaluate postoperative static and dynamic pain control with three concentrations of thoracic epidural bupivacaine mixed with a fixed dose of fentanyl infusion in major abdominal surgeries. Method: The patients meeting the inclusion criteria were randomly allocated to three different groups. Thoracic epidural bupivacaine infusions, with concentrations of 0.0625%, 0.1% and 0.125%, mixed with fentanyl 1 μg/mL, were given through a Baxter elastomeric pump at the rate of 5 mL/hour, and labelled as Group A, Group B and Group C, respectively. The patients were followed up to the third postoperative day for the assessment of static pain score, dynamic pain score, respiratory depression, blood pressure, sedation, motor weakness, postoperative nausea and vomiting. Results: Group B and Group C, with bupivacaine concentrations of 0.1% and 0.125%, respectively, had significantly better static and dynamic pain control in comparison to Group A, with a bupivacaine concentration of 0.0625%. Hypotension was significantly higher in Group C than in other groups. The incidence of other side effects, including motor block, pruritus, postoperative nausea and vomiting, were found to be highest in Group C compared to the other groups, though the difference was not significant. Conclusion: We recommend a thoracic epidural infusion with a bupivacaine concentration of 0.1% with 1 µg/mL fentanyl for postoperative pain management in patients undergoing major abdominal surgery.

In polytrauma cases with thoracic injury and long-term chest tube drain, there is a risk of pulmonary arteriovenous fistula formation, which mostly remains undiagnosed. The pulmonary arteriovenous fistulas lead to the right to left shunt and could be a potential source of systemic septic embolism. Here, we describe a recovering polytrauma patient, who spontaneously developed septic embolic encephalitis and endogenous endophthalmitis, with no evident source of septic systemic embolism. We suspect the pulmonary arteriovenous fistulas due to thoracic injury or chest tube drain could be the possible source of septic systemic embolism, which needs to be evaluated in such cases after excluding common causes.

e15604Background: Hepatocellular carcinoma (HCC) is the fourth commonest solid cancer in males in Saudi Arabia. Sorafenib is the only FDA approved drug for advanced unresectable HCC. In this study,...

Background: The appearance of adverse effects result in discontinuation of statins by patients which lead to recurrent hyperlipidemia, this may encourage efforts to look for new and safe hypolipidemic agent, many plants used in folk medicine thought to have hypolipidemic effect, Anethum graveolens (Dill) is an annual herb cultivated in Iraq used both as medicinal agent and as food spice. The present study was designed to determine the effect of Anethum graveolens leave powder on lipid profile in the serum of hyperlipidemic patients, compared with that of standard antihyperlipidemic agent lovastatin. Patients and Methods: A prospective randomized clinical trial was carried out on 30 hyperlipidemic patients who attend to outpatient clinic in Alkindy College of Medicine, Baghdad, Iraq, over the period from January 2012-June 2012, patients were allocated into: Group A, composed of 15 patients treated with lovastatin tablets 20mg once daily for four weeks period.Group B, composed of 15 patients treated with 500 mg Anethum graveolens crude powder capsules, to be taken twice daily for four weeks period; besides 15 healthy subjects serve as control. Blood samples were collected after overnight fasting to check the changes in lipid profile. Results: administration of Anethum graveolens leave powder results in highly significant reduction of lipid profile in hyperlipidemic patients, besides reduction of atherosclerotic index, its effect is comparable to that of standard agent lovastatin. Conclusion: results obtained in this study suggesting that Anethum graveolens is an efficient hypolipidemic agent and promising cardioprotectant agent, this study clearly showed the strong scientific clinical basis for hypolipidemic traditional use of Anethum graveolens.