Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality.

Background: Congenital disorders of the mitochondrial respiratory chain are a heterogeneous group of inborn errors of metabolism. Among them, NADH:ubiquinone oxidoreductase (complex I, CI) deficiency is the most common. Biallelic pathogenic variants in NDUFAF2, encoding the nuclear assembly CI factor NDUFAF2, were initially reported to cause progressive encephalopathy beginning in infancy.

Neovascular Glaucoma as a Presenting Sign of Catastrophic Antiphospholipid Syndrome with a "Catastrophic" Heart Valve Finding.

We aimed to describe a case of neovascular glaucoma (NVG) as a first presenting sign of catastrophic antiphospholipid syndrome (CAPS) with heart valve aseptic vegetations known as Libman-Sacks endocarditis. A 39-year-old man was referred for left eye decreased visual acuity and pain, upon examination left eye high intraocular pressure; rubeosis iridis of both eyes (BE); and prominent retinal ischemia. Clinical and fluorescein angiography findings established the diagnosis of left eye NVG with vaso-occlusive disease in BE.

Traumatic Optic Neuropathy and Monocular Blindness following Transnasal Penetrating Optic Canal Injury by a Wooden Foreign Body.

Purpose: To report a case of right eye blindness due to a penetrating injury in the contralateral nostril.

Methods: This is a case report of a 67-year-old patient who presented to the emergency room complaining of transient blurred vision in his right eye after falling on a small branch with no apparent injury besides minor lacerations. The following day, the patient experienced blindness in the right eye.

Postzygotic HRAS mutation causing both keratinocytic epidermal nevus and thymoma and associated with bone dysplasia and hypophosphatemia due to elevated FGF23.

Introduction: Epidermal nevus syndrome is a rare group of disorders characterized by the combination of congenital epidermal nevi and extracutaneous features, including skeletal, neurological, ocular, and other systemic findings. We report a case of keratinocytic epidermal nevus syndrome that includes a thymoma, bone dysplasia, and hypophosphatemia with elevated fibroblast growth factor 23 (FGF23) levels associated with postzygotic HRAS mutation.

Case Report: A 14-year-old boy was admitted due to recent limping.

The role of chest and abdominal computed tomography in assessing the severity of acute corrosive ingestion.

Context: Corrosive substance ingestion is a toxicological emergency with relatively high mortality requiring rational surgical decisions.

Objective: Evaluate the role of chest and abdominal computed tomography (CT) in assessing the severity of acute corrosive ingestion.

Methods: A retrospective study of adults admitted due to corrosive ingestion, who underwent gastrointestinal endoscopy and CT within 48 h of admission.

Chest pain unit in an internal medicine department: comparison of a year with the facility to a year without.

Background: Chest pain is one of the most common reasons for emergency department visits and hospital admissions. Chest pain units (CPU) are being incorporated in tertiary hospitals for rapid and effective management of patients with chest pain. In Israel prior to 2010, only one chest pain unit existed in a tertiary hospital.

Forty- versus 20-minute trials of the maintenance of wakefulness test regimen for licensing of drivers.

Study Objectives: Objective assessment of the ability to maintain wakefulness, although very important, is still equivocal. A recent study from our lab has shown that the Maintenance of Wakefulness Test (MWT), when performed with the 20-minute protocol (MWT20), is unreliable in assessing patients who are highly motivated to maintain wakefulness. In this study, we sought to examine whether the 40-minute protocol (MWT40) is a better tool in assessing such individuals.

The 20-min trial of the maintenance of wakefulness test is profoundly affected by motivation.

Assessment of the ability to maintain wakefulness, although very important both for research and for clinical purposes, is still equivocal. The current gold standard is considered the Maintenance of Wakefulness Test (MWT), although there are two different potential protocols to perform it and the normal reference range has been determined on selected populations. The effect of potential "penalty" on failing the test (i.