Diagnosis and Treatment of a Patient With Severe Combined Immunodeficiency Due to a Novel Homozygous Mutation in the IL-7Rα Chain.

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.

Clinical and epidemiological characteristics of the first 150 patients with COVID-19 in Lebanon: a prospective descriptive study.

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.

Association between Fetal Adrenal Gland Ultrasound Measurements in the 9th Month and Mode of Delivery.

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.

Severe Symptomatic Hypochloremia Associated with Rare Signet Ring Cell Carcinoma of the Ampulla of Vater: A Case Report.

Hypochloremia is an electrolyte disturbance characterized by low serum concentration of chloride ions, often occurring in acute illnesses and characterized by nonspecific signs and symptoms. It rarely results from decreased intake and is predominantly due to either renal or extra-renal losses. We report a case of severely worsening symptomatic hypochloremia resulting from an extra-renal loss of chloride ion in a 58-year-old female patient presenting for prolonged protracted vomiting.

Choroidal neovascularization complicating sclerochoroidal calcifications.

Purpose: Sclerochoroidal calcifications (SCC) are rare conditions characterized by unifocal or multifocal well-defined scleral deposits of calcium. The present study describes two cases of SCC complicated by the onset of choroidal neovascularization (CNV).

Method: Five patients affected by SCC were enrolled in the study and two cases were complicated by CNV.

Comparison of four automated SARS-CoV-2 serological immunoassays in Lebanon.

Automated immunoassays have been introduced to complement real time PCR (RT-PCR) in the battle against SARS-CoV-2. This study compares four serological automated immunoassays by different manufacturers (Abbott, Euroimmun, Roche and Snibe) that are available in Lebanon with regards to specificities, sensitivities, inter-agreement and positive/negative distinction abilities. One hundred and fifty-seven samples (73 with a positive RT-PCR and 84 controls) were analyzed.

Familial Mediterranean fever associated frosted branch angiitis, retinal vasculitis and vascular occlusion.

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.

Prolidase Deficiency Causing Recalcitrant Leg Ulcerations in Siblings.

Prolidase deficiency (PD) is a rare autosomal recessive genodermatosis with variable clinical manifestations. It results from a mutation in the peptidase-D gene that leads to abnormal activity of the prolidase enzyme, an important player in collagen catabolism. The authors report the case of two siblings presenting with dysmorphic features, disturbed blood panel, and recalcitrant leg ulcerations of several years' duration.

A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.

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.

The importance of acknowledging diagnostic uncertainty in patients with new-onset paroxysmal spells.

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.

A Case-Cohort Study of Exfoliation Risk Factors and Literature Review.

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).

When Should a Brain MRI Be Performed in Children with New-Onset Seizures? Results of a Large Prospective Trial.

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.

Impact of Ramadan Intermittent Fasting on the Heart Rate Variability and Cardiovascular Parameters of Patients with Controlled Hypertension.

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.

Depression and anxiety in patients from Lebanon with new onset functional seizures.

Objectives: To prospectively compare the frequencies of depression and anxiety in patients with new onset functional seizures versus two age and gender-matched control groups consisting of patients with new onset epileptic seizures and normal individuals.

Methods: Consecutive patients, 16 years and older, enrolled in a prospective study for suspected new onset epileptic seizures and diagnosed with documented functional seizures were included. We compared the depression and state and trait anxiety scores using the Beck Depression Inventory (BDI) and the State Trait Anxiety Inventory (STAI) between patients with functional seizures and the other two control groups.

Associations in corticocapsular adhesions.

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.

Pharmacokinetics and safety of ticagrelor in infants and toddlers with sickle cell disease aged <24 months.

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.

A single educational intervention on heart failure self-care: Extended follow-up from a multisite randomized controlled trial.

Background: Heart failure outcomes remain poor, and little is known about the causes and predictors of these outcomes in Lebanon.

Aim: The purpose of this article is to report the causes and predictors of the 6- and 12-month readmission and mortality of previously recruited patients to the Family focused Approach to iMprove Heart Failure care In LebanonQualitY intervention (FAMILY) study.

Methods: A multi-site block randomized controlled trial in three tertiary medical centers in Beirut.

Progressive development of large choroidal excavation in neovascular age-related macular degeneration.

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.

Repurposed Antiviral Drugs for Covid-19 - Interim WHO Solidarity Trial Results.

Background: World Health Organization expert groups recommended mortality trials of four repurposed antiviral drugs - remdesivir, hydroxychloroquine, lopinavir, and interferon beta-1a - in patients hospitalized with coronavirus disease 2019 (Covid-19).

Methods: We randomly assigned inpatients with Covid-19 equally between one of the trial drug regimens that was locally available and open control (up to five options, four active and the local standard of care). The intention-to-treat primary analyses examined in-hospital mortality in the four pairwise comparisons of each trial drug and its control (drug available but patient assigned to the same care without that drug).

Salvage therapy for vagal nerve stimulator infection; Literature review and report of a delayed recurrence.

Background: Vagal Nerve Stimulation (VNS) is one of the most common neuro-modulation based approaches for the treatment of medically intractable epilepsy. Despite advances in technology and surgical techniques, hardware infection remains a recognized and feared complication in VNS placement. Management of such infections is scarce in the literature with the majority of data available in case reports.

Perceived Surgeon Stress During No-Sedation Topical Phacoemulsification.

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).

Analysis of optical coherence angiography in cystoid macular oedema associated with gyrate atrophy.

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.