History and Genetics of Retinoblastoma

The history of retinoblastoma (RB) goes back to 1597 when Pieter Pawius of Amsterdam described a tumor that resembled retinoblastoma. “Fungus haematodes” was the first term used to describe retinoblastoma. Later, the American Ophthalmological Society approved the term retinoblastoma in 1926. The retinoblastoma protein is encoded by the RB1 gene located at 13q14. The functioning model of the tumor suppressor genes was first proposed by Alfred Knudson in the 1970s who precisely explained the hereditary mechanism of retinoblastoma. If both alleles of this gene are mutated, the protein is inactivated and this results in the development of retinoblastoma. One mutation can be either germline or somatic and the second one is always somatic. Differentiation between sporadic and germline retinoblastoma variants requires the identification of the RB1 germline status of the patient. This identification is important for assessing the risk of additional tumors in the same eye, the other eye, and the risk of secondary tumors. Thus, genetic testing is an important component of the management of all children diagnosed with retinoblastoma. In this chapter, we will go over the history, genetics, and counseling for patients with retinoblastoma

Characteristics and recurrence of pterygium in Saudi Arabia: a single center study with a long follow‐up

Abstract Background This study described the clinical features of patients with pterygium and analyzed the recurrence rate of conjunctival autografting alone, conjunctival autografting combined with intraoperative mitomycin C, and amniotic membrane grafting. Methods A retrospective cohort study of primary pterygium was conducted between January 2017 and February 2020. Factors associated with pterygium severity and recurrence were analyzed by univariate analysis and logistic regression models. Results The study included 292 patients with an average age of 53.3 ± 14.1 years, while the number of operated cases was 94. Pterygia involving the cornea were observed in 55 % of the cases. The overall rate of recurrence for the three procedures was 17 %. The average time of recurrence was 14.2 ± 11.9 months, with 37 % of the recurrences occurring after the first year. The only factor associated with a significant risk of recurrence was dry eye disease in both univariate (p = 0.021) and multivariate analysis (p = 0.026). The recurrence rates following conjunctival autografting with and without mitomycin C were 15.6 and 15.8 %, respectively. The recurrence rate following the amniotic membrane graft was  twofold (OR= 2.02)  (27 %) that following the conjunctival autograft (15.8 %). Conclusions The only factor associated with the recurrence of pterygium was dry eye disease. More than one-third of recurrences developed after the first year, which stresses the importance of a long follow-up. The recurrence rate in our study following conjunctival graft was slightly higher compared to the literature mainly due to differences in study areas, populations, and follow-up periods

Outcomes and Predictors of Failure of Ultrasound Cyclo Plasty for Primary Open-Angle Glaucoma

Aims: To evaluate the outcomes of ultrasound cyclo plasty (UCP) for primary open-angle glaucoma (POAG) and identify the predictors of failure. Methods: This retrospective cohort study included patients with POAG who underwent UCP at King Abdul Aziz University Hospital, Riyadh, Saudi Arabia, between 2016 and 2021. The main outcome measures were the intraocular pressure (IOP), the number of antiglaucoma medications, and the presence of vision-threatening complications. The surgical outcome of each eye was based on the main outcome measures. Cox proportional hazard regression analysis was performed to identify the possible predictors of UCP failure. Results: Sixty-six eyes of fifty-five patients were included herein. The mean follow-up period was 28.95 (±16.9) months. The mean IOP decreased significantly from 23.02 (±6.1) to 18.22 (±7.0) and 16.44 (±5.3) mm Hg on the 12th and 24th months, respectively; the mean number of antiglaucoma medications decreased significantly from 3.23 (±0.9) to 2.15 (±1.5) and 2.09 (±1.6), respectively. The cumulative probabilities of overall success were 71.2 ± 5.6% and 40.9 ± 6.1% on the 12th and 24th months, respectively. High baseline IOP and the number of antiglaucoma medications were associated with a higher risk of failure (hazard ratio = 1.10 and 3.01, p = 0.04 and p < 0.01, respectively). The most common complications were cataract development or progression (30.8%) and prolonged or rebound anterior chamber reaction (10.6%). Conclusions: UCP reasonably controls the IOP and reduces the antiglaucoma medication burden in eyes with POAG. Nevertheless, the success rate is modest, with a high baseline IOP and number of medications

2. Central line associated blood stream infection in a pediatric cardiac intensive care unit: Incidence, risk factors, and outcome

Clinical research. Presentation Type: Oral presentation. Introduction: Central Line Associated Blood Stream Infection (CLABSI) is a serious infection associated with 28,000 deaths and expenses from $296 million to$2.3 billion yearly. There is scarcity of data on CLABSI in pediatric cardiac intensive care units (PCICU). The aim of the study is to describe the risk factors, causative organisms and outcome of CLABSI in a PCICU. Methodology: The study was retrospective cohort in which all charts of patients admitted to the PCICU from January 2012 to September 2012 were reviewed. Patients who had central line were followed to see if they develop CLABSI from the central line insertion date until discharge. Results: Two hundred and sixty-one patients were included in the study. There were 2275 central line days and 19 CLABSI episodes (8.35 CLABSIs per 1000 central line days). Most common causative pathogens isolated were gram negative bacteria (N = 10, 50%) with Klebsiella pneumoniae and coagulase negative Staphylococcus were the leading causative organisms (N = 4, 20% each). Patients who developed the infection had a longer stay at the PCICU with a mean of 27.1 days compared to 8.20 days for non CLABSI Patients (P 7 days were independent risk factors. Conclusion: CLABSI increased the length of PCICU stay and mortality, yet it has recognizable associated risk factors. Infection control measures should be carefully implemented with special attention given to patients with CLABSI risk factors