Superior rectus/levator complex in acquired anophthalmic socket repaired with spheric implant-a computed tomography scan and topographic study.

Aim: To determine whether the levator palpebrae superioris (LPS)/superior rectus (SR) muscle complex, can influence the position of the upper lid and fornix in acquired anophthalmic sockets.

Methods: This comparative non-randomized and non-interventional study included retrospective data of 21 patients with unilateral acquired anophthalmic sockets repaired with spheric implants. High-resolution computed tomography (CT) measurements of the LPM/SR muscle complex and clinical topographic position of the upper lid, superior and inferior fornix depth in primary gaze position were evaluated.

Reliability-based analysis of horizontal curve design by evaluating the impact of vehicle automation on roadway departure crashes and safety performance.

Roadway departure (RwD) crashes are significant safety concerns, especially at horizontal curves. The design of these curves plays a crucial role in mitigating RwD crashes. Thus, a thorough understanding of the interaction between driver behavior, vehicle automation, and geometric design is vital.

Rare case in Somalia: Fahr's syndrome.

Introduction And Importance: Fahr's syndrome is primarily familial, autosomal dominant, and genetically diverse. Basal ganglia calcification that is bilaterally symmetrical is a hallmark of this illness. Although the specific origins of this illness are unknown, it may be brought on by problems with calcium metabolism, infections, toxins, hereditary factors, hypoparathyroidism, and pseudohypoparathyroidism.

Penile amputation after neonatal circumcision: a case report.

Unlabelled: In children, one of the most common surgical procedures worldwide is circumcision, which has strong religious implications and is frequently performed for nontherapeutic reasons. Circumcision is typically associated with old customs. Complete penile amputation is extremely uncommon, and the prognosis is little understood.

A presentation of iatrogenic hypospadias after traditional circumcision: A case report.

Introduction And Importance: Traditional circumcisions may cause complications such as hemorrhage, infection, amputations of the penis, meatal stenosis, and urethro-cutaneous fistula. In addition to all these complications, iatrogenic hypospadias, as in our case, is a rare condition. In general, complications are mild and preventable, especially in children, but when the procedure is carried out by unskilled providers, in unsterile conditions, or with inadequate equipment and supplies, severe complications are more likely to occur.

The association of cosmetic-related lacrimal sac black deposits with primary-acquired nasolacrimal duct obstruction and dry eye disease.

Purpose: To determine the incidence of cosmetic-related lacrimal sac black deposits (LSBDs) in primary-acquired nasolacrimal duct obstruction (PANDO) biopsies and the role of LSBD in the pathogenesis of PANDO, in addition to their association with dry eye disease (DED).

Methods: A clinicopathological study included all patients who underwent surgical management of PANDO. We excluded patients in whom lacrimal sac biopsy was not taken during the surgery.

Necrotizing canaliculitis: A case report and review of the literature.

Canaliculitis is defined as infection of the canalicular part of the lacrimal system. Despite usual presenting clinical characteristics such as pouting of the lacrimal punctum, discharge, and redness at the medial canthus area, it is usually misdiagnosed and overlooked. The presence of punctal ulceration and tissue necrosis is an uncommon presentation in these patients.

Pharmacology and toxicology of eteplirsen and SRP-5051 for DMD exon 51 skipping: an update.

Duchenne muscular dystrophy (DMD) afflicts 1 in 5000 newborn males, leading to progressive muscle weakening and the loss of ambulation between the ages of 8 and 12. Typically, DMD patients pass away from heart failure or respiratory failure. Currently, there is no cure, though exon-skipping therapy including eteplirsen (brand name Exondys 51), a synthetic antisense oligonucleotide designed to skip exon 51 of the dystrophin gene, is considered especially promising.

The clinico-pathologic profile of primary and recurrent orbital/periorbital plexiform neurofibromas (OPPN).

To evaluate and compare the clinical and histopathological profile of primary and recurrent orbital-periorbital plexiform neurofibromas (OPPN) in patients with neurofibromatosis type 1. We retrospectively evaluated 43 primary or recurrent neurofibroma (NF) specimens from 26 patients (2002 to 2018) at the King Khaled Eye Specialist Hospital, Saudi Arabia. Demographics, clinical presentation, and surgical intervention data were collected.

eSkip-Finder: a machine learning-based web application and database to identify the optimal sequences of antisense oligonucleotides for exon skipping.

Exon skipping using antisense oligonucleotides (ASOs) has recently proven to be a powerful tool for mRNA splicing modulation. Several exon-skipping ASOs have been approved to treat genetic diseases worldwide. However, a significant challenge is the difficulty in selecting an optimal sequence for exon skipping.

Restoring Protein Expression in Neuromuscular Conditions: A Review Assessing the Current State of Exon Skipping/Inclusion and Gene Therapies for Duchenne Muscular Dystrophy and Spinal Muscular Atrophy.

The debilitating neuromuscular disorders Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA), which harm 1 in 5000 newborn males and 1 in 11,000 newborns, respectively, are marked by progressive muscle wasting among other complications. While DMD causes generalized muscle weakness due to the absence of the dystrophin protein, SMA patients generally face motor neuron degeneration because of the lack of the survival motor neuron (SMN) protein. Many of the most promising therapies for both conditions restore the absent proteins dystrophin and SMN.

Personal Protective Equipment and Donning and Doffing Techniques in the Cardiac Catheterization Laboratory During the COVID-19 Pandemic: Insights From an Internet Search for Protocols.

Due to the ongoing coronavirus disease 2019 (COVID-19) pandemic, a need for precise donning and doffing protocols for personal protective equipment (PPE) among healthcare infrastructures is paramount. Procedures involving the cardiac catheterization laboratory (CCL) are routinely non-aerosolizing but have the potential for rapid patient deterioration, creating the need for aerosolizing generating procedures. Multiple societal and governmental guidelines on the use of PPE during medical procedures are available on Internet websites; however, there is limited literature available in peer-reviewed formats in this context.

Adult presentation of retinoblastoma in Saudi patient.

To describe an unusual case of retinoblastoma in adult Saudi. A 21-year-old Saudi male developed acute unilateral visual loss due to a large intraocular lesion in his left eye. Within five days of presentation, the tumor enlarged rapidly causing angle closure glaucoma and orbital cellulitis like picture.

Management outcomes of canalicular laceration in children.

Purpose: To report the epidemiological data, clinical profile, management, and outcomes of canalicular lacerations in the pediatric age group in a tertiary eye care hospital in Saudi Arabia.

Methods: This retrospective study evaluated pediatric patients who underwent canalicular laceration repair in the last 15 years at King Khalid Eye Specialist Hospital (KKESH), Saudi Arabia. Demographics, causes of injury, type of trauma, surgical approach, and outcomes were analyzed.

Genome-Wide Analysis Unveils DNA Helicase RECQ1 as a Regulator of Estrogen Response Pathway in Breast Cancer Cells.

Susceptibility to breast cancer is significantly increased in individuals with germ line mutations in (also known as or ), a gene encoding a DNA helicase essential for genome maintenance. We previously reported that expression predicts clinical outcomes for sporadic breast cancer patients stratified by estrogen receptor (ER) status. Here, we utilized an unbiased integrative genomics approach to delineate a cross talk between RECQ1 and ERα, a known master regulatory transcription factor in breast cancer.

The systemic implication of novel non-statin therapies in cardiovascular diabetology: PCSK9 as a case model.

PCSK9, like other novel non-statin drugs were primarily developed to help patients achieve low-density lipoprotein cholesterol targets, especially in patients with dyslipidemia not achieving lipid goals with statins due to poor tolerance or inadequate response. PCSK9 inhibitors, in addition to modulating lipid metabolism, improve mortality outcomes in cardiovascular disease. These benefits are markedly pronounced in patients with type 2 diabetes mellitus.

Meta-analysis of intravascular volume expansion strategies to prevent contrast-associated acute kidney injury following invasive angiography.

Objective: To perform a detailed analysis of published data regarding intravascular volume expansion to prevent contrast-associated acute kidney injury (CA-AKI) and to determine if an ideal dose of IV fluids can be recommended.

Background: Administration of contrast media during invasive angiography is associated with CA-AKI. Intravascular volume expansion is the most effective intervention to prevent CA-AKI, yet evidenced based protocols are lacking.

Neural tone and cardio-renal outcomes in patients with type 2 diabetes mellitus: a review of the literature with a focus on SGLT2 inhibitors.

Recent clinical trials involving the systemic effects of sodium-glucose cotransporter 2 inhibitors (SGLT2i) have revealed beneficial outcomes pertaining to the microvascular sequelae of type 2 diabetes mellitus (T2DM) such as nephropathy, as well as macrovascular effects such as major adverse cardiovascular effects (MACE). Such findings have spurred the elevation of these agents to level A-tiers of recommendation within clinical guidelines addressing the management of complicated T2DM. While the mechanisms of SGLTi (-flozin drugs) are still being elucidated, a paucity of data exists within the literature appraising the role of neuromodulation and associated mechanisms in the aforementioned outcome studies.

The HYLAN M Study: Efficacy of 0.15% High Molecular Weight Hyaluronan Fluid in the Treatment of Severe Dry Eye Disease in a Multicenter Randomized Trial.

The aim of the HYLAN M study was to investigate if symptoms and/or signs of patients suffering from severe dry eye disease (DED) can be improved by substituting individually optimized artificial tear therapy by high molecular weight hyaluronan (HMWHA) eye drops. In this international, multicenter study, patients with symptoms of at least ocular surface disease index (OSDI) 33 and corneal fluorescein staining (CFS) of at least Oxford grade 3 were included. A total of 84 per-protocol patients were randomized in two study arms.

Werner Syndrome Protein Expression in Breast Cancer.

Introduction: Werner protein (WRN) plays an important role in DNA repair, replication, transcription, and consequently genomic stability via its DNA-helicase and exonuclease activity. Loss of function of WRN is associated with Werner syndrome (WS), which is characterized by premature aging and cancer predisposition. Malignancies that are commonly linked to WS are thyroid carcinoma, melanoma, breast cancer, meningioma, and soft tissue and bone sarcomas.

Advances in Genetic Characterization and Genotype-Phenotype Correlation of Duchenne and Becker Muscular Dystrophy in the Personalized Medicine Era.

Currently, Duchenne muscular dystrophy (DMD) and the related condition Becker muscular dystrophy (BMD) can be usually diagnosed using physical examination and genetic testing. While BMD features partially functional dystrophin protein due to in-frame mutations, DMD largely features no dystrophin production because of out-of-frame mutations. However, BMD can feature a range of phenotypes from mild to borderline DMD, indicating a complex genotype-phenotype relationship.