Search

Objective: Previous studies assessing factors associated with drug-resistant epilepsy (DRE) were constrained by their amalgamation of all epilepsy syndromes in their analyses and the absence of uniform criteria for defining DRE. Our objective was to identify predictors of DRE among the four primary childhood epilepsy syndrome groups within a cohort of children with new onset seizures, using the International League Against Epilepsy (ILAE) definition of DRE and the recent classification of epilepsies., Methods: This is a prospective study of 676 children with new onset seizures initiated on antiseizure medication. Patients were monitored for the occurrence of DRE according to the ILAE criteria and were categorized into one of four epilepsy groups: self-limited focal epilepsies (SeLFEs), genetic generalized epilepsies (GGEs), developmental epileptic encephalopathies (DEEs), and focal epilepsies. Cox regression analysis was performed to identify predictors of DRE within each epilepsy group., Results: Overall, 29.3% of children were classified as having DRE, with the highest incidence observed among children diagnosed with DEEs (77.7%), followed by focal epilepsies (31.5%). Across the entire cohort, predictors of DRE included the presence of an epileptogenic lesion, a higher pretreatment number of seizures, experiencing multiple seizure types, presence and severity of intellectual and developmental delay, myoclonus, and younger age at epilepsy onset. Within the GGEs, only a younger age at seizure onset and experiencing multiple seizure types predicted DRE. Among focal epilepsies, predictors of DRE included the presence of an epileptogenic lesion, experiencing multiple seizure types, and having a greater number of pretreatment seizures. Within the DEEs, predictors of DRE were the occurrence of tonic seizures. Predictors of DRE within SeLFEs could not be identified., Significance: This study indicates that different epilepsy syndromes are associated with distinct predictors of drug resistance. Anticipation of drug resistance within various groups is feasible using accessible clinical variables throughout the disease course., (© 2024 International League Against Epilepsy.)

Objective: This prospective study aimed to delineate the demographics, natural progression, and treatment response of patients newly diagnosed with epilepsy with generalized tonic-clonic seizures alone (EGTCA). Furthermore, our objective includes assessing the seizure recurrence rate post antiseizure medication (ASM) discontinuation within this cohort, alongside exploring predictive factors for seizure relapse., Methods: The study cohort, derived from an ongoing, prospective, multicenter investigation on children and adults with new-onset unprovoked seizures, included consecutive patients enrolled between March 2010 and March 2020, and meeting mandatory ILAE criteria for EGTCA diagnosis. Participants underwent a 3-h sleep-deprived video-EEG recording along with an epilepsy protocol brain magnetic resonance imaging (MRI) with repeat EEG at each follow-up. Cumulative time-dependent probabilities of seizure recurrence were calculated using Kaplan-Meier survival analysis. Logistic regression identified variables associated with seizure recurrence following ASM taper., Results: Eighty-nine patients with a median age of 16 years were included, constituting 31% of those diagnosed with an idiopathic generalized epilepsy. Regarding the circadian distribution of seizures, 59.6% of patients exclusively experienced diurnal seizures, 12.4% exclusively nocturnal, and 28.1% experienced both diurnal and nocturnal seizures. Generalized spike-wave discharges (GSWD) were present in the initial EEG of 88% of patients. A GTC recurred in 14% of patients treated with ASM compared with 73% of untreated patients (p < 0.00001). ASM discontinuation was attempted in 50 patients after a median treatment duration of 3 years, with 44% experiencing a recurrence. Patient-initiated taper and a mixed circadian seizure pattern independently predicted a higher likelihood of recurrence post-ASM discontinuation., Significance: Our findings underscore the importance of prompt treatment upon the diagnosis of EGTCA. Notably, lifelong treatment may not be imperative; patients seizure-free for at least 2 years, with the absence of GSWD on EEG, often maintained seizure freedom after ASM withdrawal, especially with physician-initiated tapering., Plain Language Summary: Seizures in individuals diagnosed with "epilepsy with generalized tonic-clonic seizures alone" (EGTCA) typically start during adolescence and often respond well to antiseizure medications. An electroencephalogram, which measure brain waves, will show abnormal discharges in most patients with EGTCA. Lifelong treatment with antiseizure medication is not necessary for everyone with EGTCA; approximately, 40% can successfully stop treatment without facing seizure recurrence. Patients who stop medication on their own have a higher risk of seizures returning compared with those who undergo cessation under a doctor's supervision., (© 2024 The Author(s). Epilepsia Open published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.)

Background: The World Health Organization advocates for the achievement of 100% voluntary non-remunerated blood donation (VNRD) globally by the year 2020. However, until today, little was known in Lebanon regarding its actual rate or influencing factors, particularly donor motivations and behaviors. Therefore, the aim of this study was to assess the knowledge, attitudes, and practices of blood donors in Lebanon. The ultimate goals were to retain first-time donors, encourage them to become regular ones, and facilitate the transition from replacement donation to VNRD., Materials and Methods: A multi-centric cross-sectional study was carried across the five governorates in Lebanon. A self-administered and structured questionnaire was used in this survey. Results were presented in terms of odds ratios, with statistical significance defined at a P value of 0.05 and a 95% confidence interval. Additionally, a benchmarking analysis of the situation of blood donation in Lebanon was also conducted, identifying several areas for improvement., Results: A total of 620 blood donors participated in this study, with 21.3% being first-time donors and 78.7% repeat donors. While the latter were primarily motivated by self-esteem, solidarity or returning a favor (89%, 77.9% and 78.1%), the main obstacle for becoming regular donors was a lack of initiative (34.6%). Female donors (9.9% of the total) exhibited better knowledge (OR = 2.20, p = 0.011) and were more inclined to donate voluntarily (OR = 1.52, p = 0.048). Conversely, male donors were more likely to be repeat donors, often through replacement donation (OR = 2.95, p = 0.001)., Conclusion: There is a significant disparity between the low rate of voluntary donation in Lebanon (22.2%) and the relatively high proportion of donors with adequate knowledge of the donation process (60.5%). Therefore, urgent action by public authorities, based on the evidence based strategies outlined in this article, is crucial to enhancing the voluntary donation rate in Lebanon., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Société française de transfusion sanguine (SFTS). Published by Elsevier Masson SAS. All rights reserved.)

Purpose: To investigate best corrected visual acuity (BCVA), subretinal fluid (SRF) absorption time or ellipsoid zone (EZ) restoration time and various variables in patients with persistent SRF after successful primary repair of rhegmatogenous retinal detachment (RRD)., Methods: This retrospective multicenter study allowed independent analysis of the healing pattern by two observers based on composite of serial cross-sectional macular optical coherence tomography (OCT) scans. Univariate and multivariate analyses were implemented., Results: One hundred and three cases had persistent SRF after pars plana vitrectomy, scleral buckling, or pneumatic retinopexy. By univariate analysis, SRF resolution time correlated positively with the number of retinal breaks ( p  < 0.001) and with increased myopia ( p  = 0.011). Using multivariate analysis, final BCVA (log MAR) correlated positively with age, duration of RRD, initial BCVA (OR = 3.28; [95%CI = 1.44-7.47]; p  = 0.015), and SRF resolution time (OR = 0.46 [95%CI 0.21-1.05]; p  = 0.049). EZ restoration time was longer with increasing number of retinal tears (OR = 0.67; [95%CI 0.29-1.52]; p  = 0.030), worse final BCVA, and presence of macula-off RRD (OR = 0.26; [95%CI 0.08-0.88]; p  = 0.056). SRF resolution time correlated marginally with prone position., Conclusions: Residual posterior SRF is more common in eyes with multiple breaks or in myopic eyes. Final BCVA is better in younger subjects and in eyes with shorter duration of RRD. Persistent SRF is a self-limited disorder with a mean resolution of 11.2 months with good visual prognosis improving from a mean baseline logMAR of 1.08 to 0.25 at one year., Competing Interests: Declaration of conflicting interestsThe authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Objective: Several studies have previously assessed the value of changes in the fetal adrenal gland to predict preterm labor. The aim of this study is to evaluate the correlation between fetal adrenal gland measurements after 36 weeks and obstetrical outcomes., Methods: Abdominal two-dimensional (2D) ultrasound is used to measure in the transversal plane the length of fetal zone (D1), the width (D2), and the length (D3) of fetal adrenal gland, and, subsequently, the fetal zone enlargement (FZE), in 98 primigravida women after 36 weeks. Labor and delivery outcomes were assessed and compared with these measurements., Results: FZE changes had no association with spontaneous onset of labor. No association was found between all adrenal gland measurements and delivery onset. There was a significant relationship between D1, D2, and D3 and the delivery method. Patients delivered by cesarean section had smaller fetal adrenal gland dimensions, defining D1= 0.16 cm, D2 = 0.7 cm, and D3 = 2.37 cm as cutoff levels based on receiver operator characteristics curves., Conclusion: The 2D measurement of the fetal adrenal gland after 36 weeks seems to predict the delivery method in low-risk primigravida women., Key Points: · We evaluate fetal adrenal gland measurements after 36 weeks versus the obstetrical outcome.. · No association was found between all adrenal gland measurements and delivery onset.. · Patients delivered by cesarean section had smaller fetal adrenal gland dimensions.., Competing Interests: None declared., (Thieme. All rights reserved.)

Background: Thromboembolism is reported to be up to 27% in COVID-19 patients due to SARS-CoV-2 infection. Dysregulated systemic inflammation and various patient traits play a vital role in thrombosis progression., Purpose: To assess odds and associated factors for thrombosis development among Lebanese COVID-19 patients., Methods: This was a case-control retrospective study conducted in January-May 2021. Patients infected with COVID-19 and developed thrombosis were classified as cases and patients who were thrombosis-free identified as control. A questionnaire assessed socio-demographics, clinical parameters, and WHO COVID-19 disease severity., Results: Among 267 patients, 26 (9.7%) developed thrombosis and the majority of thrombosis 34.6% was myocardial infarction, and the least (3.8%) was for catheter-related thrombosis. Results showed that the risk of thrombosis development is higher in patients with previous thromboembolic event (OR = 9.160) and previous intake of anti-hypertensive medications at home (OR = 3.116). However, females (OR = 0.330; CI: 0.118-0.925), intake of anticoagulants during hospital admission (OR = 0.126; CI: 0.053-0.300) and non-severe COVID-19 were at lower thrombosis risk (OR = 0.273). Patients who developed thromboembolic events had longer hospital stay (OR = 0.077)., Conclusion: Patients with COVID-19 and thromboembolism were at higher risk of mortality as compared to patients with COVID-19 but without thromboembolism. The use of anticoagulants significantly reduced the risk for thromboembolism., Competing Interests: No potential conflict of interest was reported by the author(s)., (© 2024 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group.)

Best Vitelliform Macular Dystrophy (BVMD) is a dominantly inherited retinal disease caused by dominant variants in the BEST1 gene. The original classification of BVMD is based on biomicroscopy and color fundus photography (CFP); however, advancements in retinal imaging provided unique structural, vascular, and functional data and novel insights on disease pathogenesis. Quantitative fundus autofluorescence studies informed us that lipofuscin accumulation, the hallmark of BVMD, is unlikely to be a primary effect of the genetic defect. It could be due to a lack of apposition between photoreceptors and retinal pigment epithelium in the macula with subsequent accumulation of shed outer segments over time. Optical Coherence Tomography (OCT) and adaptive optics imaging revealed that vitelliform lesions are characterized by progressive changes in the cone mosaic corresponding to a thinning of the outer nuclear layer and then disruption of the ellipsoid zone, which are associated with a decreased sensitivity and visual acuity. Therefore, an OCT staging system based on lesion composition, thus reflecting disease evolution, has been recently developed. Lastly, the emerging role of OCT Angiography proved a greater prevalence of macular neovascularization, the majority of which are non-exudative and develop in late disease stages. In conclusion, effective diagnosis, staging, and clinical management of BVMD will likely require a deep understanding of the multimodal imaging features of this disease., Competing Interests: Declaration of conflicting interestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Purpose: To report a case of Pigmented Paravenous Chorioretinal Atrophy (PPCRA) associated with a novel RPGRIP1 dominant variant., Methods: Case report. The patient underwent multimodal retinal imaging, including spectral-domain optical coherence tomography (OCT), OCT Angiography (OCTA), blue-light autofluorescence (BAF), and ultra-widefield pseudocolor retinography and autofluorescence. Genetic testing was performed using next-generation sequencing., Results: A 67-year-old male presented with a clinical suspicion of retinitis pigmentosa. His best-corrected visual acuity was 20/32 in the right eye and 20/200 in the left eye. On fundus examination, paravenous pigment clumping and chorioretinal atrophy were seen bilaterally, matching confluent hypoautofluorescent areas departing from the optic disc. This clinical presentation suggested a case of PPCRA. Genetic testing found a heterozygous deletion of nucleotide 631 (c.631del) in the RPGRIP1 gene, a frameshift variant that generates a premature stop codon (p.Ser211Valfs*64) and therefore results in a truncated or absent protein product. The variant was regarded as likely pathogenic (class IV)., Conclusion: In this report, we describe a case of PPCRA in association with a novel, likely pathogenic c.631del, p.Ser211Valfs*64 variant in RPGRIP1 , a gene that has been associated with Leber congenital amaurosis and cone-rod dystrophy. Our case expands the spectrum of genes associated with PPCRA and prompts further studies to ascertain the molecular etiopathogenesis of this disease.

Purpose: This study aims to identify predictive factors of a two-year remission (2YR) in a cohort of children and adolescents with new-onset seizures based on baseline clinical characteristics, initial EEG and brain MRI findings., Methods: A prospective cohort of 688 patients with new onset seizures, initiated on treatment with antiseizure medication was evaluated. 2YR was defined as achieving at least two years of seizure freedom during the follow-up period. Multivariable analysis was performed and recursive partition analysis was utilized to develop a decision tree., Results: The median age at seizure onset was 6.7 years, and the median follow-up was 7.4 years. 548 (79.7%) patients achieved a 2YR during the follow up period. Multivariable analysis found that presence and degree of intellectual and developmental delay (IDD), epileptogenic lesion on brain MRI and a higher number of pretreatment seizures were significantly associated with a lower probability of achieving a 2YR. Recursive partition analysis showed that the absence of IDD was the most important predictor of remission. An epileptogenic lesion was a significant predictor of non-remission only in patients without evidence of IDD, and a high number of pretreatment seizures was a predictive factor in children without IDD and in the absence of an epileptogenic lesion., Conclusion: Our results indicate that it is possible to identify patients at risk of not achieving a 2YR based on variables obtained at the initial evaluation. This could allow for a timely selection of patients who require close follow-up, consideration for neurosurgical intervention, or investigational treatments trials., Competing Interests: Declaration of Competing Interest None of the authors has any conflict of interest to disclose., (Copyright © 2023 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.)

Background: Schubert-Bornschein (SB) is the most common type of people with congenital stationary night blindness (CSNB). The aim of the study is to describe the optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA) findings in patients with SB CSNB., Methods: Prospective, observational case series including three patients with genetically confirmed CSNB along with matched controls, who underwent complete ophthalmic examination and multimodal imaging., Results: On SD-OCT, a significant focal outer plexiform layer (OPL) thickening and a corresponding focal outer nuclear layer (ONL) thinning were identified in the macular area (p < 0.001). OCTA analysis overall showed decreased density of macular deep capillary plexus (mDCP) and macular choriocapillaris (mCC) (p = 0.008 and p = 0.033, respectively). DCP vessel density in the area corresponding to OPL thickening was significantly increased compared to the remaining retina (p < 0.001)., Conclusion: SB CSNB is characterized by retinal vascular impairment, as detected on OCTA.

Objective: The decision to initiate treatment in patients with a first unprovoked seizure remains controversial. Studies have reported a recurrence rate ranging from 21%-50%, but most have included patients with different etiologies, electroencephalography (EEG) findings, and seizure types. This study aimed to determine the risk of recurrence in patients with a first unprovoked generalized tonic-clonic (GTC) seizure with evidence of generalized spike-wave discharges (GSWDs) on EEG and compare the efficacy of antiseizure medications (ASMs) in preventing recurrence., Methods: This prospective study included consecutive patients who presented with a single GTC seizure, evidence of GSWDs on EEG, and a follow-up period of at least 1 year. All patients underwent extensive evaluation, including a 3-hour sleep-deprived video-EEG recording and an epilepsy protocol brain magnetic resonance imaging (MRI). Treatment with ASMs was recommended for all patients. The decision regarding the specific ASM to be used was left to the treating physician's discretion., Results: A total of 57 patients with a median age of 19 years were included. A total of 41 patients agreed to be started on an ASM while 16 declined. Seizure recurred in 6 of 41 patients (14.6%) in the treated group compared to 11 of 16 (68.8%) in the untreated group (p = .00006). Valproate was significantly more efficacious than levetiracetam or lamotrigine (p = .04). Of the 15 patients who discontinued ASM treatment after remaining seizure-free for an average of 30 months, 6 (40%) experienced a seizure recurrence., Significance: Patients with a first unprovoked GTC seizure and evidence of GSWDs on EEG have a high risk of recurrence if left untreated. Valproate is the most efficacious ASM for preventing recurrence in this population. A sizeable proportion of patients can be successfully tapered off medication after a period of seizure freedom. This study provides valuable information for guiding treatment decisions in this patient population., (© 2023 International League Against Epilepsy.)

Background: Invasive fungal infections have presented a challenge in treatment. In the past, it was known that the frontrunner in such infections is Candida albican s with little emphasis placed on non-albicans Candida species (NAC). Studies worldwide have shown a rise in fungal infections attributed to non-albicans Candida species. The aim of this study is to describe the epidemiology of NAC infections along with an overview of resistance in Lebanese hospitals., Methods: This is a two-year observational multi-central descriptive study. Between September 2016 and May of 2018, a total of 1000 isolates were collected from 10 different hospitals distributed all over the country. For the culture, Sabouraud Dextrose Agar was used. Antifungal Susceptibility was evaluated by determining the Minimum Inhibitory Concentration (MIC) in broth (microdilution) of the different antifungal treatments., Results: Out of the 1000 collected isolates, Candida glabrata , being the most isolated species (40.8%), followed by Candida tropicalis : 231(23.1%), Candida parapsilosis : 103(10.3%), a nd other NAC species at lower percentage. Most of these isolates (88.67%) were susceptible to posaconazole, 98.22% were susceptible to micafungin, and 10% were susceptible to caspofungin., Conclusion: The change of etiology of fungal infections involving a significant increase in NAC cases is alarming due to the different antifungal susceptibility patterns and the lack of local guidelines to guide the treatment. In this context, proper identification of such organisms is of utmost importance. The data presented here can help in establishing guidelines for the treatment of candida infections to decrease morbidity and mortality. Future surveillance data are needed., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Husni, Bou Zerdan, Samaha, Helou, Mahfouz, Saniour, Hourani, Kolanjian, Afif, Azar, El Jisr, Mokhbat, Abboud, Feghali, Abboud, Matta, Karayakouboglo, Matar, Moghnieh and Daoud.)

Background: External quality assessments (EQAs) for the molecular detection of human respiratory syncytial virus (RSV) are necessary to ensure the standardisation of reliable results. The Phase II, 2019-2020 World Health Organization (WHO) RSV EQA included 28 laboratories in 26 countries. The EQA panel evaluated performance in the molecular detection and subtyping of RSV-A and RSV-B. This manuscript describes the preparation, distribution, and analysis of the 2019-2020 WHO RSV EQA., Methods: Panel isolates underwent whole genome sequencing and in silico primer matching. The final panel included nine contemporary, one historical virus and two negative controls. The EQA panel was manufactured and distributed by the UK National External Quality Assessment Service (UK NEQAS). National laboratories used WHO reference assays developed by the United States Centers for Disease Control and Prevention, an RSV subtyping assay developed by the Victorian Infectious Diseases Reference Laboratory (Australia), or other in-house or commercial assays already in use at their laboratories., Results: An in silico analysis of isolates showed a good match to assay primer/probes. The panel was distributed to 28 laboratories. Isolates were correctly identified in 98% of samples for detection and 99.6% for subtyping., Conclusions: The WHO RSV EQA 2019-2020 showed that laboratories performed at high standards. Updating the composition of RSV molecular EQAs with contemporary strains to ensure representation of circulating strains, and ensuring primer matching with EQA panel viruses, is advantageous in assessing diagnostic competencies of laboratories. Ongoing EQAs are recommended because of continued evolution of mismatches between current circulating strains and existing primer sets., Competing Interests: No conflict of interest is declared by authors., (© 2023 The Authors. Influenza and Other Respiratory Viruses published by John Wiley & Sons Ltd.)

Objectives: To analyse the entity of retinal vasculitis, including frosted branch angiitis (FBA), or retina vascular occlusion in patients with familial Mediterranean fever (FMF)., Methods: Retrospective collaborative case series using invitation by email to uveitis specialists around the Mediterranean basin. This series was combined with a literature review. Exclusion criteria included infectious diseases, Behçet's disease or other autoimmune diseases., Results: A total of 16 patients (21 eyes) had FMF and retinal vasculitis (FBA 11 patients, mild retinal vasculitis 5 patients). The mean age at onset of vasculitis was 29.5 ± 13.4 (range 9-62) with a female to male ratio of 9 to 7. In 19 eyes treated with various forms of corticosteroid and/or immunosuppression, the mean initial spectacle-corrected visual acuity improved from 6/194 to 6/10.5 at the last mean follow-up of 29.0 ± 34.9 months (p < 0.001). The most common FEVR mutations were M680I and M694V. In addition, retinal vascular occlusions included one case of central retinal artery occlusion and one case of branch retinal artery occlusion., Conclusion: FBA and milder forms of retinal vasculitis are associated with FMF. Therapy involves an increase in colchicine dosage in early cases, a long period of oral corticosteroid, intravitreal dexamethasone implant or periocular corticosteroid in select cases, and combination therapy with systemic immunosuppression in severe cases. FMF needs to be included in the differential diagnosis of retinal vasculitis., (© 2021. The Author(s), under exclusive licence to The Royal College of Ophthalmologists.)

Background: COVID-19 pandemic has led to a catastrophic shortage of ICU beds. This has resulted in the need to identify patients that can be discharged early before full clinical recovery. We designed this study to determine if in changes routine tests like CBCD and CRP can be a useful complement to clinical status when deciding to discharge patients from ICU., Methods: This retrospective study was conducted in Rafic Hariri University Hospital. Levels of biomarkers measured at admission (T1) and within 3 days of outcome (T2) were collected and ratios (T2/T1) were calculated. The Odds Ratios of association between the changes in these biomarkers and outcome were estimated. Multivariate analysis and AUC for the performance of these biomarkers were also conducted., Results: We found on multivariate analysis that reduction in counts of lymphocyte and platelets and elevation in counts of neutrophils and level of CRP (T2/T1 ratio > 1) are strongly associated with mortality with respective ORs estimated at 6.74, 3.26, 5.65 and 4.34 [p-values < 0.001]. AUCs were found to lie in a range of 0.68 to 0.81 indicating fair to good performance. Other factors found to impact survival were AKI, AF and ACS [p-values < 0.01]. In contrast to other studies, risk factors didn't show an association with survival when adjusted for effects of complications and changes in biomarker levels., Conclusions: Our results confirm that inexpensive tests like lymphocyte count and CRP can be reliably used to follow COVID-19 patients in ICU and to support the decision to discharge patients., Competing Interests: The authors have declared that no competing interests exist.

The COVID-19 pandemic continues to expand globally, with case numbers rising in many areas of the world, including the Eastern Mediterranean Region. Lebanon experienced its largest wave of COVID-19 infections from January to April 2021. Limited genomic surveillance was undertaken, with just 26 SARS-CoV-2 genomes available for this period, nine of which were from travellers from Lebanon detected by other countries. Additional genome sequencing is thus needed to allow surveillance of variants in circulation. In total, 905 SARS-CoV-2 genomes were sequenced using the ARTIC protocol. The genomes were derived from SARS-CoV-2-positive samples, selected retrospectively from the sentinel COVID-19 surveillance network, to capture diversity of location, sampling time, sex, nationality and age. Although 16 PANGO lineages were circulating in Lebanon in January 2021, by February there were just four, with the Alpha variant accounting for 97 % of samples. In the following 2 months, all samples contained the Alpha variant. However, this had changed dramatically by June and July 2021, when all samples belonged to the Delta variant. This study documents a ten-fold increase in the number of SARS-CoV-2 genomes available from Lebanon. The Alpha variant, first detected in the UK, rapidly swept through Lebanon, causing the country's largest wave to date, which peaked in January 2021. The Alpha variant was introduced to Lebanon multiple times despite travel restrictions, but the source of these introductions remains uncertain. The Delta variant was detected in Gambia in travellers from Lebanon in mid-May, suggesting community transmission in Lebanon several weeks before this variant was detected in the country. Prospective sequencing in June/July 2021 showed that the Delta variant had completely replaced the Alpha variant in under 6 weeks.

Talazoparib is an oral PARP inhibitor approved for locally advanced/metastatic breast cancer. There is no consensus, however, as to whether it is better used as a first-line treatment or after other therapies in patients with gBRCA mutations. In fact, talazoparib showed its superiority compared with chemotherapy in the survival and quality of life of patients with BRCA mutations, with an acceptable toxicity profile. While its role in this indication is not debated, its cost as well as the availability of other effective new agents, particularly immune checkpoint inhibitors, may encourage the movement of this drug to later treatment lines. Until more robust data are available, the best treatment sequence for BRCA -mutated breast cancer must be personalized on a case-by-case basis.

Background: Clinical features of confirmed COVID-19 cases cover a wide spectrum., Aims: To study the clinical, radiological and virological features of the first 150 patients with COVID-19 in Lebanon., Methods: Our university hospital was designated as the primary COVID-19 care centre in Lebanon. Between 21 February 2020, the date of the first confirmed case of COVID-19 in Lebanon, and 3 April 2020, our team treated 150 patients diagnosed with COVID-19. In this prospective descriptive study, we present our experience in treating these patients, specifically the diagnostic criteria, outcome, and demographic, clinical, radiological and biological characteristics., Results: Ninety-five (63.33%) of the patients were male and 55 (36.67%) were female. Most patients (58%) were aged > 50 years, and 8 (5.33%) were healthcare workers. Diagnosis was based on reverse transcription polymerase chain reaction, and patients were classified as mild, moderate or critical. Fifteen (10%) patients had a critical presentation and fever was the most prominent symptom at presentation. One hundred and thirty-eight (92%) patients underwent radiological evaluation. The most common laboratory findings were lymphocytopenia (34.38%), followed by neutropenia (28.13%), but leukocytosis was not prevalent (1.56%). Old age and comorbidity were significant indicators in patient risk stratification. Chest computed tomography was an invaluable method of diagnosis and management. Our radiological findings were consistent with the published literature., Conclusion: Our study underlines the variable presentation of COVID-19, the difference in severity, and the diverse methods of diagnosis. This suggests the need for a tailored approach, taking into consideration the wide spectrum of presentation., (Copyright © World Health Organization (WHO) 2022. Open Access. Some rights reserved. This work is available under the CC BY-NC-SA 3.0 IGO license (https://creativecommons.org/licenses/by-nc-sa/3.0/igo).)

The interleukin-7 receptor (IL-7R) is expressed on lymphoid cells and plays an important role in the development, homeostasis, survival, and proliferation of T cells. Bi-allelic mutations in the IL-7Rα chain abolish T cell development and function resulting in severe combined immunodeficiency disease. In this manuscript, we investigate a 1 year-old patient born to consanguineous parents, who suffered from autoimmune hemolytic anemia since birth associated with recurrent severe infections. Flow cytometric analysis of the patient's peripheral blood demonstrated elevated numbers of B and NK cells, decreased numbers of T cells, defective thymic output, a predominance of memory T cells, and absent T cell proliferation. Next Generation Sequencing identified a novel homozygous pathogenic mutation in IL7RA (c.379G>A) that resulted in aberrant IL7RA RNA splicing and absent IL-7Rα expression. The patient was successfully transplanted using her HLA-matched relative as donor. One year after transplant, the patient is clinically stable with normal reconstitution of donor T cells that express IL-7Rα, a significant increase in the percentages of recent thymic emigrant and peripheral T cells, normalization of naïve and memory T cells, and restoration of her T cell's proliferative response. Therefore, using genetic and functional approaches, we identified a novel deleterious mutation in IL-7Rα that results in T - B + NK + phenotype, and report successful hematopoietic stem cell transplantation of the patient. This represents the first bedside-to-bench-and-back case entirely performed on a patient with severe combined immunodeficiency at the American University of Beirut Medical Center., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Mansour, Bsat, Fadel, El-Orfali, Noun, Tarek, Kabbara, Abboud and Massaad.)

Background: Clinical and molecular data on the occurrence and frequency of inherited neuromuscular disorders (NMD) in the Lebanese population is scarce., Objective: This study aims to provide a retrospective overview of hereditary NMDs based on our clinical consultations in Lebanon., Methods: Clinical and molecular data of patients referred to a multi-disciplinary consultation for neuromuscular disorders over a 20-year period (1999-2019) was reviewed., Results: A total of 506 patients were diagnosed with 62 different disorders encompassing 10 classes of NMDs. 103 variants in 49 genes were identified. In this cohort, 81.4% of patients were diagnosed with motor neuron diseases and muscular dystrophies, with almost half of these described with spinal muscular atrophy (SMA) (40.3% of patients). We estimate a high SMA incidence of 1 in 7,500 births in Lebanon. Duchenne and Becker muscular dystrophy were the second most frequently diagnosed NMDs (17% of patients). These disorders were associated with the highest number of variants (39) identified in this study. A highly heterogeneous presentation of Limb Girdle Muscular Dystrophy and Charcot-Marie-Tooth disease was notably identified. The least common disorders (5.5% of patients) involved congenital, metabolic, and mitochondrial myopathies, congenital myasthenic syndromes, and myotonic dystrophies. A review of the literature for selected NMDs in Lebanon is provided., Conclusions: Our study indicates a high prevalence and underreporting of heterogeneous forms of NMDs in Lebanon- a major challenge with many novel NMD treatments in the pipeline. This report calls for a regional NMD patient registry.

Objectives: To determine the patient-related factors that contribute to intraoperative corticocapsular adhesions (CCA) during phacoemulsification cataract extraction (PCE)., Methods: Prospective, single surgeon, multi-year study of consecutive patients undergoing PCE was performed. At the conclusion of each procedure, the surgeon recorded the CCA and perceived surgeon stress score. Patient variables included gender, age, diabetes mellitus, intake of oral alpha blockers, floppy iris, laterality, pseudo-exfoliation, and intraocular lens power., Results: During the 10-year study, 1097 eyes underwent surgery and CCA was diagnosed intraoperatively in 41 eyes. On multi-variable analysis, the following patient characteristics were associated with intraoperative CCA: diabetes mellitus (p = 0.002), age >80 years (p = 0.002), presence of posterior capsular cataract (p = 0.046), severe nuclear sclerosis (p = 0.004), and absence of pseudo-exfoliation (p = 0.043)., Conclusion: Diabetes mellitus, advanced age and posterior subcapsular cataract are associated with CCA necessitating generous repetitive hydrodissection., (© 2021. The Author(s), under exclusive licence to The Royal College of Ophthalmologists.)

Objective: The aims of this study were to evaluate the frequency of paroxysmal spells of indeterminate nature (PSIN) in a large cohort of children and adults with suspected new-onset seizures, to evaluate the reasons for including patients in this category, and to calculate the rate of erroneous diagnoses if the epileptologists were compelled to label those events as epileptic seizures or nonepileptic paroxysmal spells., Methods: Patients identified for this study participated in a prospective study evaluating patients with suspected new-onset unprovoked seizures. The workup included a detailed history and a thorough description of the spells, a 3-hour video EEG recording, and an epilepsy protocol brain MRI. Based exclusively on a detailed description of the ictal events, two epileptologists were asked to independently classify each patient into those with a definite diagnosis of unprovoked seizures or a definite diagnosis of a nonepileptic paroxysmal spells (group 1) and those with PSIN (group 2)., Results: A total of 1880 consecutive patients were enrolled with 255 (13.6%) included in the PSIN group. Patients with PSIN were significantly younger than those with a definite diagnosis, and PSIN were significantly more frequent in children with developmental delay. The most common reason for including patients in the PSIN group was the inability to categorically discriminate between a seizure and a nonepileptic mimicker. When the raters were compelled to classify the spells in the PSIN group, the frequencies of erroneous diagnoses ranged between 32% and 38%. The final diagnoses on those patients were made based on the results of the EEG, MRI, and follow-up visits., Significance: Our data indicate that a diagnostic category of PSIN should be recognized and ought to be used in clinical practice. Acknowledging this uncertainty will result in lower frequencies of erroneous diagnoses, possible stigma, and potential exposure to unnecessary antiseizure medications., (© 2021 The Authors. Epilepsia Open published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.)

Background and Purpose: There is a paucity of data regarding the incidence of structural brain lesions in children with new-onset unprovoked seizures. Our aim was to determine the frequencies and types of epileptogenic lesions detected on a dedicated epilepsy protocol MR imaging according to age group, the presence of developmental delay, and the number and types of seizures., Materials and Methods: Consecutive children between 6 months and 18 years of age with new-onset unprovoked seizures were included. The frequencies and types of epileptogenic lesions were determined and then stratified according to sex, age groups, the presence of developmental delay, and the number and types of seizures at presentation. Multivariate analysis was used to identify variables significantly associated with the presence of epileptogenic lesions., Results: One thousand children were included. An epileptogenic lesion was identified in 26%, with malformations of cortical development being the most common lesion (32%), followed by hypoxic-ischemic injury (20%) and vascular etiologies (16%). Univariate analysis showed a significant increase in the frequency of epileptogenic lesions with decreasing age, the presence of developmental delay, and the number and types of seizures at presentation. The presence of developmental delay and seizure type at presentation remained significant in a multivariate analysis., Conclusions: We documented a relatively high rate of epileptogenic lesions in children with new-onset seizures, with the presence of developmental delay and specific seizure types being associated with a higher likelihood of detecting an epileptogenic lesion on neuroimaging. This study fulfills the requirements of the study design recommended by the Practice Committee of the American Academy of Neurology, and we hope that our results will assist the relevant societies and committees in formulating neuroimaging guidelines for children with new-onset seizures., (© 2021 by American Journal of Neuroradiology.)

Human C2orf69 is an evolutionarily conserved gene whose function is unknown. Here, we report eight unrelated families from which 20 children presented with a fatal syndrome consisting of severe autoinflammation and progredient leukoencephalopathy with recurrent seizures; 12 of these subjects, whose DNA was available, segregated homozygous loss-of-function C2orf69 variants. C2ORF69 bears homology to esterase enzymes, and orthologs can be found in most eukaryotic genomes, including that of unicellular phytoplankton. We found that endogenous C2ORF69 (1) is loosely bound to mitochondria, (2) affects mitochondrial membrane potential and oxidative respiration in cultured neurons, and (3) controls the levels of the glycogen branching enzyme 1 (GBE1) consistent with a glycogen-storage-associated mitochondriopathy. We show that CRISPR-Cas9-mediated inactivation of zebrafish C2orf69 results in lethality by 8 months of age due to spontaneous epileptic seizures, which is preceded by persistent brain inflammation. Collectively, our results delineate an autoinflammatory Mendelian disorder of C2orf69 deficiency that disrupts the development/homeostasis of the immune and central nervous systems., (Copyright © 2021 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)

Background: To evaluate the relationship between superficial, deep foveal avascular zone (FAZ) and foveal cyst areas in eyes with cystoid macular oedema (CMO) associated with gyrate atrophy of the choroid and retina (GA)., Methods: This is a retrospective collaborative multicenter study of optical coherence tomography-angiography (OCTA) images in GA. Superficial and deep FAZ and foveal cyst were measured using Image J by two independent experts. Values were corrected for myopia magnification. These values were compared with age-matched controls from normative data., Results: Twenty-three eyes from 12 patients with GA and CMO were included in the study. The mean ± standard deviation age was 22 ± 19.7 years, mean Snellen spectacle-corrected visual acuity of 20/70 with mean myopia of 5.7 ± 4.1 dioptres. Qualitatively, no focal occlusion of superficial and deep capillary plexus was noted. Mean superficial FAZ area (0.484 ± 0.317 mm 2 ), deep FAZ area (0.626 ± 0.452 mm 2 ), and foveal cyst area (0.630 ± 0.503 mm 2 ) were significantly larger than superficial and deep FAZ areas in controls of same age range (p < 0.001). Macular cyst area correlated with superficial FAZ area (R = 0.59; p = 0.0057) and more strongly with deep FAZ area (R = 0.69; p < 0.001)., Conclusions: The superficial and deep FAZ area in GA-associated CMO were noted to be significantly larger than in controls. It seems that RPE dysfunction leads to foveal cyst enlargement displacing the capillary plexus with resultant enlarged superficial and deep FAZ area.

Inhibition of platelet activation may reduce vaso-occlusion rates in patients with sickle cell disease (SCD). In the HESTIA4 (NCT03492931) study, 21 children with SCD received a single oral dose of the antiplatelet agent ticagrelor (0.1 mg/kg <6 months; 0.2 mg/kg ≥6 to <24 months). All patients had measurable ticagrelor plasma concentrations. Ticagrelor and active metabolite (AR-C124910XX) exposure were comparable across all groups (<6 months, ≥6 to <12 months and ≥12 to <24 months). Ticagrelor was well tolerated. Palatability was generally acceptable. These data will be used to enable dose selection for further investigations of ticagrelor efficacy and safety in children with SCD., (© 2021 Wiley Periodicals LLC.)

The purpose of the study is to evaluate the risk factors associated with exfoliation in a case-cohort setting and literature review. This single-center, prospective, case-cohort study was carried out from January 2010 to April 2020 on patients operated for cataract surgery by a single surgeon in Lebanon. Forty-nine consecutive patients with exfoliation syndrome (XFS) and 62 consecutive control patients were identified and further investigated for selected systemic (diabetes mellitus, systemic hypertension, asthma, or atopy) and ocular variables (baseline vision, severity of nuclear sclerosis, glaucoma, eye rubbing, history of dry eye, or allergic eye disease). The mean baseline Snellen visual acuity was 20/283 in XFS versus 20/145 in control cases ( P = 0.012). XFS also demonstrated significantly denser nuclear sclerosis than controls ( P = 0.00958). By univariate analysis, allergic conjunctivitis (15 [30.6%] vs. 2 [3.2%]; P < 0.001), dry eye (20 [40.8%] vs. 13 [21.0%]; P = 0.0133), and habitual rubbing of the eyes (33 [67.3%] vs. 19 [30.6%]; P < 0.001) were associated with the presence of XFS. Habitual ocular rubbing was closely associated with allergic conjunctivitis (odds ratio [OR] = 13.0; 95% confidence interval [CI]: 2.8-58.8; P = 0.032). After multivariable analysis, the following variables showed significant results: glaucoma (OR = 34.5; 95% CI: 4.4-250; P = 0.010), duration of surgery (OR = 5.6; 95% CI 2.43-12.9; P < 0.001), and habitual ocular rubbing (OR = 4.42; 95% CI: 1.97-9.90; P = 0.029). This study shows a novel potential correlation between eye rubbing and XFS in a Lebanese cohort. Chronic eye rubbing induces or may exacerbate preexistent zonular damage in subjects with XFS, hence the need to better manage concurrent ocular surface disorder in these patients., Competing Interests: There are no conflicts of interest., (Copyright: © 2021 Middle East African Journal of Ophthalmology.)

Background: Conflicting results are reported on the effect of Ramadan fasting on the cardiovascular health of patients with hypertension, a highly prevalent cardiovascular disease risk factor. This research aimed to evaluate the impact of fasting on cardiac health and heart rate variability (as a measure of cardiac stress) of hypertensive patients., Methods: Patients with controlled hypertension were followed in a prospective cohort during and after Ramadan. Lipid panel and blood glucose were measured at the end of each phase. Blood pressure and heart rate variability were monitored in the morning, afternoon, and evening of each follow-up day., Results: The study included 58 subjects (mean age: 54 ± 11.5 years, 52% male). Fasting did not affect body composition, lipid panel parameters, and blood pressure of hypertensive subjects; males only presented lower body weight and hip circumference during Ramadan. Blood glucose was significantly higher during Ramadan. Fasting significantly increased HRV during the afternoon period., Conclusions: Ramadan intermittent fasting reduces cardiac stress among hypertensive patients controlled by and adherent to hypertensive medication, without affecting their hypertensive state., Competing Interests: The authors declare that they have no conflicts of interest., (Copyright © 2021 Sabah Hammoud et al.)

Purpose: Focal choroidal excavation (CE) is an unusual concavity in the choroid without posterior staphyloma or scleral ectasia and with pathogenesis is still unknown. In this article we present a case of de novo progressive focal choroidal excavation associated with exudative age-related macular degeneration (AMD)., Methods: This study was designed as a descriptive case report based on clinical and imaging data collected during patient's observation and follow-ups., Results: A 67-year-old man with systemic hypertension and hypercholesterolemia, with a previous diagnosis of bilateral AMD complicated by already treated macular neovascularization, underwent our attention to perform follow-up visits. Over the 5-year follow-up, the left eye remained stable, requiring no further treatments and disclosing a BCVA of 0.0 LogMAR. On the contrary, the right eye showed several exudation recurrences, requiring further anti-VEGF injections. Structural OCT detected the progressive development of a focal CE, which gradually enlarged converting into a large CE. Structural OCT examinations reported even growing defects of the Bruch's membrane. Despite the evident progression of the CE, BCVA disclosed stable values over the 5-years follow-up (1.0 LogMAR), with a worsening of metamorphopsia., Conclusion: Large CE may be a complication of neovascular AMD. Bruch's membrane abnormalities, including thickness and reflectivity changes, detectable on structural OCT, can be considered early biomarkers of potentially developing CE.

Purpose: To determine the patient-related factors that contribute to surgeon stress during phacoemulsification cataract extraction (PCE) performed under unassisted topical anesthesia., Methods: This is a prospective study of perceived surgeon stress during phacoemulsification by a single surgeon of consecutive patients undergoing PCE. At the conclusion of each procedure, the surgeon recorded the perceived stress according to the following three indices: surgeon score, qualitative score (yes or no), and total score (sum of itemized causes of stress). Patient variables included in the analysis included gender, age, diabetes mellitus, morbid obesity, intake of oral alpha blockers, floppy iris, laterality, pseudo-exfoliation, intraocular lens power, and initial visual acuity., Results: During the 10-year study, 1097 eyes underwent surgery. The following patient variables were seen frequently: floppy iris syndrome (92), pseudo-exfoliation (72), and morbid obesity (36). Surgeon identified stress was reported after 250 procedures. On multivariable analysis, the following patient characteristics were associated with surgeon stress: age >80 years; morbid obesity; floppy iris syndrome; severe nuclear sclerosis; and poor baseline distance corrected visual acuity., Conclusion: Several ocular and systemic patient-related characteristics contribute to surgeon stress during PCE., Competing Interests: Michael W. Stewart, MD: Consultant – Alkahest, Bayer; Institutional Research Support – Allergan, Regeneron. The authors report no other conflicts of interest in this work., (© 2020 Mansour et al.)

Purpose: To analyze potential risk factors associated with eyelash impaction into meibomian gland orifice., Methods: Retrospective review of one tertiary clinic over a period of 10 years., Results: In this study, 18 patients were included, with a mean age of 61.6 years at diagnosis. Ten patients were symptomatic in the form of ocular irritation or foreign body sensation. The location of the impaction included 15 nasal half and 3 temporal half of the lid, 6 upper lid and 12 lower lid, 8 right side and 10 left side. Risk factors included dry eyes (10), allergic conjunctivitis (4), severe rubbing of the eye (6), sleeping on the eye (2), and recent phacoemulsification (1)., Conclusion: Ocular rubbing from either ocular allergy or dryness is associated with impaction of the lash into the orifice of the meibomian gland duct., Competing Interests: The authors report no conflicts of interest in this work., (© 2020 Mansour and El Jawhari.)

Competing Interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Introduction: To describe the characteristics and care of participants with type 1 diabetes during Ramadan in the Middle East and North Africa., Methods: The DAR-MENA (Diabetes and Ramadan-Middle East and North Africa) study was a prospective, observational study of adults with type 1 and type 2 diabetes who were Muslim and did/did not intend to fast during Ramadan 2016. Baseline data were collected 6 weeks prior to Ramadan, with a follow-up visit 1-2 months after Ramadan. This is the analysis of the population with type 1 diabetes. Measurements included proportion who fasted, reasons for fasting and not fasting, changes in diabetes treatment, hypoglycemic events, and proportion with access to diabetes education., Results: Of 136 participants with type 1 diabetes, 76.9% (100/130) fasted for at least 1 day, 72.3% (94/130) fasted for at least 15 days, and 48.5% (63/130) fasted for 30 days. The majority (63.0%, 63/100) reported personal decision as a reason to fast. Fear of diabetic complications (58.6%, 17/29) and previous complications related to fasting (48.3%, 14/29) were the most common reasons for not fasting. Adjustment of diabetic medication regimen occurred for 84.6% (115/136) of participants, and 72.8% (99/136) changed their treatment dose. The incidence and number of adverse events for confirmed and severe hypoglycemia were similar before and during Ramadan. Almost half of participants had access to diabetes education (45.6%, 62/136)., Conclusion: The DAR-MENA study showed that despite the risks associated with fasting for people with type 1 diabetes, almost half fasted for the full 30 days of Ramadan with no significant change in hypoglycemia events. Since the current International Diabetes Federation and Diabetes and Ramadan guidelines do not endorse fasting for people with type 1 diabetes, it is important that those who insist on fasting work closely with their healthcare practitioner to avoid any complications.

Purpose: Hyperventilation (HV) in children can lead to HV-induced high-amplitude rhythmic slowing (HIHARS) on the EEG (electroencephalogram) which is sometimes associated with altered awareness (AA) and concomitant semiological features. Our aims were to determine the frequency of HIHARS in children, to assess if the associated semiological features were temporally related to HV, and to evaluate if specific semiological features can differentiate HIHARS with AA from absence seizures., Methods: Consecutive children with suspected new onset seizure(s) underwent HV and awareness testing during video-EEG acquisition. Hyperventilation-induced high-amplitude rhythmic slowing was defined as 2.5- to 5-Hz generalized rhythmic slowing with amplitude ≥100 μv lasting for ≥3 s. The associated semiological features were compared between the group of children with HIHARS and AA, an age- and gender-matched control group without HIHARS, and in children who experienced absence seizures during HV., Results: One hundred sixteen children with a mean age of 9.8 years were included. Hyperventilation-induced high-amplitude rhythmic slowing occurred in 39 children (33.6%) with AA documented in 30 (76.9%). The probability of developing AA during HIHARS was significantly and positively correlated with the HIHARS duration. The frequencies of HIHARS were not significantly different between children diagnosed with seizure(s) and those with nonepileptic spells. Hyperventilation cessation and staring did not occur in any child of the control group. Fidgeting and yawning were significantly more common in the group with HIHARS with AA while staring and blinking were significantly more frequent in the group of children with absence seizures., Conclusions: We ascertained that HIHARS with AA is a relatively common occurrence in children and most likely represents an age-related nonepileptic phenomenon. When associated with fidgeting or yawning, it can help differentiate this phenomenon from absence seizures. However, recording the concomitant presence of generalized spike wave discharges on the EEG remains essential to confirm the diagnosis of absence seizures., Competing Interests: Declaration of competing interest None., (Copyright © 2019 Elsevier Inc. All rights reserved.)

Objectives: To outline and analyse the national organisation, infrastructure and management of transfusion systems in countries sharing common historical, cultural and economic features and to decipher management trends, in order to potentially benchmark., Background: Little is known regarding transfusion systems in Eastern/southern Mediterranean at a time international organisations are calling for the establishment of a safe and sustainable blood system., Materials and Methods: Data emanating from eight Arabic-speaking Eastern/Southern Mediterranean countries who responded to five surveys were collected and tabulated., Results: While similarities in terms of supervision by national authorities, authorization of blood centres, quality control and management information system are evident, some significant divergence between these countries do exists. Only Lebanon does not possess a national blood establishment or organisation for blood supply. Blood components are fully government-subsidised in Algeria and Mauritania. Algeria, Morocco and Tunisia have a blood supply that relies mainly on Voluntary non-remunerated donors. Plateletpheresis is performed in all countries except Mauritania while plasmapheresis exists only in Algeria and Egypt. Morocco is the sole country outsourcing its plasma for Plasma derived products., Conclusion: Despite the various challenges facing these countries, lot of progresses have been made so far in the field of transfusion medicine. Yet, nationally coordinated blood programs overviewed by national regulatory authorities and actively supported by local governments are still needed to ensure the optimum level of blood safety., (© 2020 British Blood Transfusion Society.)

Background: To evaluate the safety and efficacy of intravitreal ziv-aflibercept (IVZ) in the management of vitreous hemorrhage (VH) in eyes with previously lasered proliferative diabetic retinopathy (PDR)., Methods: In a prospective multicenter study, previously lasered eyes who had dense VH from PDR underwent intravitreal injection of ziv-aflibercept (IVZ) (1.25 mg aflibercept). Demographic characteristics of the patients, baseline and final logMar visual acuity, number of injections, VH clearance time, and need for vitrectomy were recorded., Results: Twenty-seven eyes of 21 patients were included in the study. Mean age of study patients was 61.3 ± 14.1 years with mean duration of diabetes mellitus of 22.6 ± 7.8 years. Mean logMAR BCVA at baseline was 1.41 ± 1.26 (Snellen equivalent 20/514) and at the last visit 0.55 ± 0.61 (Snellen equivalent 20/70) with a mean gain of 0.86 EDTRS line (paired student t test = 5.1; p ≤ 0.001). Mean number of IVZ 2.4 ± 1.6 (range 1-6). The mean follow-up time was 11.7 ± 11.1 months (range 1-34). Mean time for visual recovery and/or VH clearance was 5.7 ± 3.3 weeks. Eyes, which required multiple injections, the interval period between injections for recurrent VH was 6.4 ± 5.2 months. No subject required vitrectomy. No ocular or systemic adverse effects were noted., Conclusions: IVZ injections had good short-term safety and efficacy for the therapy of new or recurrent VH in previously lasered eyes with PDR reducing somewhat the need for vitrectomy. Trial registration : NCT02486484., Competing Interests: Competing interests“The authors declare that they have no competing interests., (© The Author(s) 2020.)

BACKGROUND Gallbladder torsion is a rare entity of acute abdomen that can be fatal if not diagnosed and treated promptly. It presents in a multitude of ways but the most common is a presentation similar to acute cholecystitis. Diagnosis can be made clinically by abdominal ultrasound with Doppler flow, and treatment is detorsion with cholecystectomy. CASE REPORT A 57-year-old female presented to the emergency department with severe abdominal pain, bilious vomiting, and loose stools. An initial diagnosis of gastroenteritis was made, however, the patient did not respond to symptomatic treatment and continued having pain, nausea and vomiting. Abdominal ultrasound revealed signs of acute cholecystitis and the patient underwent an open cholecystectomy where the gallbladder was found to be black, gangrenous, and voluminous due to torsion. Detorsion and cholecystectomy were performed without any complications. CONCLUSIONS Gallbladder torsion is a rare entity of acute abdomen that can be fatal if not diagnosed and treated promptly. Gallbladder torsion should be a part of the differential diagnosis of any patient presenting with an acute abdomen and unusual symptoms of acute cholecystitis.

Aim: To describe an extensive scleral excision technique to treat uveal effusion in nanophthalmic eyes., Methods: This prospective, interventional series of eight eyes of five consecutive patients with nanophthalmos underwent scleral window surgeries. Ninety per cent of the scleral thickness, extending from immediately behind the extraocular muscle insertions to the vortex veins for 3 and 1/4 quadrants, was removed. The main outcome measure was resolution of the uveal effusions., Results: Eight eyes of five patients (one female and four male) with a mean age of 46 years were studied. The mean (range) axial length was 16.1 mm (14.6-17.6 mm), and the mean refractive error was +13.6 dioptres (+10.75 to +16.00 dioptres). Following scleral excision surgery, all uveal effusions resolved within an average (±SD) of 13.9 (±8.7) days. The uveal effusion recurred in only one eye that had a vasoproliferative retinal tumour. The mean best corrected visual acuity improved from 0.69 logarithm of the minimum angle of resolution (logMAR) (Snellen equivalent: 20/97) at baseline to 0.51 logMAR (Snellen equivalent: 20/64; Wilcoxon paired t-test: p=0.016) after a mean follow-up of 35.6 months., Conclusion: The circumferential scleral window technique produces rapid resolution of uveal effusion in nanophthalmic eyes. No adverse effects were noted after surgery and the clinical effect was durable through 1 year., Trial Registration Number: NCT03748732., Competing Interests: Competing interests: MWS: consultant: Alkahest and Bayer; institutional research support: Allergan and Regeneron., (© Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.)

BACKGROUND Breast cancer is still the most common malignancy in women. Though management of local disease has been thoroughly studied, management of metastatic breast cancer (MBC) is still under much debate. Modern diagnostic tools allow the detection of early metastatic disease, which may be more responsive to treatment than late metastatic disease. Source control of MBC by "toilet mastectomy" is being studied in many case reports and studies. CASE REPORT We present the case of a 43-year-old woman presenting with MBC and complaining of a recurrent breast fungating disease, aiming to highlight the importance of palliative surgical treatment in systemic breast malignancy and to report our experience with the effectiveness of the 'Integra" mesh. CONCLUSIONS Chest wall reconstruction using bilayered wound matrix mesh following "toilet mastectomy" offers excellent reconstructive results and local control of disease, and is a low-morbidity procedure.

Purpose: Off-label use of vemurafenib (VMF) to treat BRAF V600E mutation-positive, refractory, childhood Langerhans cell histiocytosis (LCH) was evaluated., Patients and Methods: Fifty-four patients from 12 countries took VMF 20 mg/kg/d. They were classified according to risk organ involvement: liver, spleen, and/or blood cytopenia. The main evaluation criteria were adverse events (Common Terminology Criteria for Adverse Events [version 4.3]) and therapeutic responses according to Disease Activity Score., Results: LCH extent was distributed as follows: 44 with positive and 10 with negative risk organ involvement. Median age at diagnosis was 0.9 years (range, 0.1 to 6.5 years). Median age at VMF initiation was 1.8 years (range, 0.18 to 14 years), with a median follow-up of 22 months (range, 4.3 to 57 months), whereas median treatment duration was 13.9 months (for 855 patient-months). At 8 weeks, 38 complete responses and 16 partial responses had been achieved, with the median Disease Activity Score decreasing from 7 at diagnosis to 0 ( P < .001). Skin rash, the most frequent adverse event, affected 74% of patients. No secondary skin cancer was observed. Therapeutic plasma VMF concentrations (range, 10 to 20 mg/L) seemed to be safe and effective. VMF discontinuation for 30 patients led to 24 LCH reactivations. The blood BRAF V600E allele load, assessed as circulating cell-free DNA, decreased after starting VMF but remained positive (median, 3.6% at diagnosis, and 1.6% during VMF treatment; P < .001) and was associated with a higher risk of reactivation at VMF discontinuation. None of the various empirical therapies (hematopoietic stem-cell transplantation, cladribine and cytarabine, anti-MEK agent, vinblastine, etc) used for maintenance could eradicate the BRAF V600E clone., Conclusion: VMF seemed safe and effective in children with refractory BRAF V600E -positive LCH. Additional studies are needed to find effective maintenance therapy approaches.

Voluntary non-remunerated donations remain the cornerstone for a safe and sustainable blood supply. According to the World Health Organization and other international scientific committees, all nations must switch their system of blood collection to voluntary non-remunerated donation. Several other types of blood donations still exist nowadays that will be discussed. Lebanon, similarly to other developing countries, is struggling to achieve 100% voluntary non-remunerated donations for the many existing social, demographic, cultural and economic problems. Replacement donations remain the predominant type, which creates huge burden on both hospital blood banks and patient families. Despite the limited resources, some improvements have been made recently in this field and Lebanon seems to be on the road of achieving 100% voluntary non-remunerated blood donation as requested by the World Health Organization. The Lebanese experience is worth sharing so that neighbouring countries facing similar problems could benefit from it., (Copyright © 2019 Elsevier Masson SAS. All rights reserved.)

Background: An association between Apolipoprotein E (Apo E) alleles and genotypes and diabetic nephropathy (DN) was suggested, but with inconsistent results. We tested the relationship between serum lipids, Apo E alleles and genotypes with type 2 diabetes (T2DM), and DN pathogenesis., Methods: Study subjects comprised 1389 normoglycemic controls, and 1422 T2DM patients, of whom 825 were normoalbuminuric (DWN), and 597 presented with nephropathy (DN)., Results: Significantly lower Apo ε2, and higher Apo ε4 allele frequencies was seen among T2DM patients than controls. Significantly higher frequency of ε3/ε4, and lower frequencies of ε3/ε3, ε2/ε3, and ε4/ε4 carriers was seen among T2DM cases. Apo ε2-carrying individuals were more frequently found in controls than in patients, while significantly higher frequency of ε4-carrying genotypes was seen in T2DM cases. Significantly higher ε2, and lower ε3 allele frequencies were noted for DN group compared to DWN group. Significantly higher frequency of ε2-containing ε2/ε3 and ε2/ε4, and lower frequencies of ε3/ε3 carriers was seen among DN cases. Apo ε3/ε3 was associated with higher total cholesterol, LDL-cholesterol, and triglyceride levels in DN patients, and significantly higher triglyceride levels were seen in ε2/ε3-carrying DN patients. Logistic regression analysis confirmed the association of Apo ε3-containing ε3/ε3, ε2/ε3, and ε3/ε4, and Apo ε2-containing ε2/ε4 with DN, after controlling for key covariates., Conclusion: The results of this case-control study provide evidence that the ε2 and ε3 alleles of APOE modify lipid profile, and constitute independent risk factors of DN in type 2 diabetes. The molecular mechanisms underlying this risk is discussed., (Copyright © 2019 Elsevier B.V. All rights reserved.)