- Outcomes in resident-performed cataract surgeries with iris challenges: Results from the Perioperative Care for Intraocular Lens study. [Journal Article]
- JCJ Cataract Refract Surg 2018 Oct 31
- CONCLUSIONS: Although requiring longer operative times and more surgical manipulation, residents who performed cataract surgeries with iris challenges achieved outcomes comparable to those performed by attending surgeons, and residents should be given the opportunity to operate on these eyes.
- Stormorken Syndrome Caused by a p.R304W STIM1 Mutation: The First Italian Patient and a Review of the Literature. [Journal Article]
- FNFront Neurol 2018; 9:859
- Stormorken syndrome is a rare autosomal dominant disease that is characterized by a complex phenotype that includes tubular aggregate myopathy (TAM), bleeding diathesis, hyposplenism, mild hypocalcem...
Stormorken syndrome is a rare autosomal dominant disease that is characterized by a complex phenotype that includes tubular aggregate myopathy (TAM), bleeding diathesis, hyposplenism, mild hypocalcemia and additional features, such as miosis and a mild intellectual disability (dyslexia). Stormorken syndrome is caused by autosomal dominant mutations in the STIM1 gene, which encodes an endoplasmic reticulum Ca2+ sensor. Here, we describe the clinical and molecular aspects of a 21-year-old Italian female with Stormorken syndrome. The STIM1 gene sequence identified a c.910C > T transition in a STIM1 allele (p.R304W). The p.R304W mutation is a common mutation that is responsible for Stormorken syndrome and is hypothesized to cause a gain of function action associated with a rise in Ca2+ levels. A review of published STIM1 mutations (n = 50) and reported Stormorken patients (n = 11) indicated a genotype-phenotype correlation with mutations in a coiled coil cytoplasmic domain associated with complete Stormorken syndrome, and other pathological variants outside this region were more often linked to an incomplete phenotype. Our study describes the first Italian patient with Stormorken syndrome, contributes to the genotype/phenotype correlation and highlights the possibility of directly investigating the p.R304W mutation in the presence of a typical phenotype. Highlights - Stormorken syndrome is a rare autosomal dominant disease.- Stormoken syndrome is caused by autosomal dominant mutations in the STIM1 gene.- We present the features of a 21-year-old Italian female with Stormorken syndrome.- Our review of published STIM1 mutations suggests a genotype-phenotype correlation.- The p.R304W mutation should be investigated in the presence of a typical phenotype.
- Effect of iris show on perceived upper eyelid height. [Journal Article]
- CJCan J Ophthalmol 2018; 53(5):462-465
- CONCLUSIONS: Decreased iris show corresponds to perceived lowering of the upper eyelid in light-coloured irides (e.g., blue and green), but may be less impactful in brown and/or dark brown irides where the iris tissue is less distinguishable from the pupil. Topical instillation of apraclonidine may represent a nonsurgical option for treatment of mild blepharoptosis in patients with light irides as it both elevates the upper eyelid margin and induces miosis, resulting in an increase in iris show and corresponding enhanced perception of upper eyelid elevation.
- Hemicrania Continua: a Clinical Perspective on Diagnosis and Management. [Review]
- CNCurr Neurol Neurosci Rep 2018 Oct 17; 18(12):95
- Hemicrania Continua (HC) is a daily and persistent form of headache that is characterized by side-locked pain which is continuous, varies in severity and can be associated with conjunctival injection...
Hemicrania Continua (HC) is a daily and persistent form of headache that is characterized by side-locked pain which is continuous, varies in severity and can be associated with conjunctival injection, lacrimation, nasal congestion, rhinorrhea, eyelid edema, forehead or facial sweating and miosis and/or ptosis.
- StatPearls [BOOK]
- BOOKStatPearls Publishing: Treasure Island (FL)
- Adie syndrome is also called the Holmes-Adie Syndrome (HAS). It is named after William John Adie, the British neurologist of Australian descent, and Sir Gordon Morgan Holmes, an Irish neurologist. Th...
Adie syndrome is also called the Holmes-Adie Syndrome (HAS). It is named after William John Adie, the British neurologist of Australian descent, and Sir Gordon Morgan Holmes, an Irish neurologist. They reported it in 1931. Earlier in 1881, Hughlings Jackson had described mydriasis with pupillary paralysis. In 1914, Oloff had shown that tonic pupils could be caused by factors other than syphilis. Adie syndrome is a rare neurological disorder of unknown etiology comprising unilateral or bilateral tonically dilated pupils with near light dissociation and tendon areflexia. The symptoms result from autonomic disturbances, affecting vasomotor and sudomotor functions. It has a female preponderance with absent or reduced deep tendon reflexes. The patient tends to have progressive miosis, to bilaterality (4% each year) and progressive loss of deep tendon reflexes.
- A Unique Case of Horner's Syndrome Following Subintimal Haematoma Within an Atherosclerotic Plaque. [Journal Article]
- NNeuroophthalmology 2018; 42(5):299-301
- Background and Importance We describe a patient with Horner's syndrome caused by an extensive intraparietal hematoma in the wall of the internal carotid artery confused with an arterial dissection. D...
Background and Importance We describe a patient with Horner's syndrome caused by an extensive intraparietal hematoma in the wall of the internal carotid artery confused with an arterial dissection. Detection of such pathology instead of dissection or arteritis is important as the management is different. As far as the authors know, it is the first case in which a haematoma within an atherosclerotic plaque is clinically related Horner's syndrome. Clinical Presentation A 81-year-old man presented with acute right hemiplegia and loss of vision of the left eye due to a central retinal artery occlusion. The patient underwent a computerised angiotomography which demonstrated left internal carotid artery occlusion with recanalisation after carotid bifurcation. Clinically, the patient developed a syndrome of Claude-Bernard Horner which replaced the diagnosis on the suspicion that it was a carotid artery dissection. The patient had miosis and ptosis of left eye. In the magnetic resonance angiography, an intramural of a possible hematoma was observed. It was decided to perform surgical treatment of the carotid lesion. Conclusion As this clinical case shows, there are symptomatic courtships that must be studied in detail so as not to confuse the carotid dissection with critical stenosis of the internal carotid artery.
- Gain-of-function mutations in STIM1 and ORAI1 causing tubular aggregate myopathy and Stormorken syndrome. [Review]
- CCCell Calcium 2018 Sep 03; 76:1-9
- Calcium (Ca2+) is a key regulator for a large number of cellular functions in all kinds of cells, and small disturbances of Ca2+ homeostasis can severely compromise normal physiology in various tissu...
Calcium (Ca2+) is a key regulator for a large number of cellular functions in all kinds of cells, and small disturbances of Ca2+ homeostasis can severely compromise normal physiology in various tissues and organs. A major mechanism controlling Ca2+ homeostasis is store-operated Ca2+ entry (SOCE), which relies on the concerted action of the reticular Ca2+ sensor STIM1 and the plasma membrane Ca2+ channel ORAI1. Gain-of-function mutations in the respective genes induce excessive Ca2+ entry, and cause tubular aggregate myopathy (TAM) and Stormorken syndrome. Both disorders are part of a clinical continuum and involve muscle weakness and additional variably pronounced features including miosis, thrombocytopenia, hyposplenism, ichthyosis, dyslexia, and short stature. Mutations in the reticular Ca2+ buffer calsequestrin (CASQ1) have moreover been associated with the mild end of the TAM/Stormorken syndrome spectrum. Here we review the clinical and histological characteristics of both disorders, provide an overview on the genetic causes, and thereby focus on the pathomechanisms leading to muscle dysfunction and the multi-systemic phenotype of tubular aggregate myopathy and Stormorken syndrome.
- The Effect of Ambient Light Conditions on Quantitative Pupillometry. [Journal Article]
- NCNeurocrit Care 2018 Sep 14
- CONCLUSIONS: Ambient light levels impact pupil parameters in both healthy and critically ill subjects. Changes in NPi under different light conditions are small and more consistent in healthy subjects, but significantly differ in the critically ill. Practitioners should standardize lighting conditions to maximize measurement reliability.
- Ophthalmic complications following ocular penetration during routine dentistry in 13 cats. [Journal Article]
- NZN Z Vet J 2018 Sep 09; :1-6
- CONCLUSIONS: This case series demonstrates that globe penetration during dental procedures carries a poor prognosis for the eye. Clinicians should be aware of the risks of ocular trauma during dental procedures in cats and great care should be taken to avoid ocular penetration, particularly during tooth extractions. Transoral maxillary nerve blocks should be avoided or used with extreme caution in cats.
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- Acute and long-term consequences of exposure to organophosphate nerve agents in humans. [Journal Article]
- EEpilepsia 2018; 59 Suppl 2:92-99
- Nerve agents are organophosphate (OP) compounds and among the most powerful poisons known to man. A terrorist attack on civilian or military populations causing mass casualties is a real threat. The ...
Nerve agents are organophosphate (OP) compounds and among the most powerful poisons known to man. A terrorist attack on civilian or military populations causing mass casualties is a real threat. The OP nerve agents include soman, sarin, cyclosarin, tabun, and VX. The major mechanism of acute toxicity is the irreversible inhibition of acetylcholinesterase. Acetylcholinesterase inhibition results in the accumulation of excessive acetylcholine levels in synapses, leading to progression of toxic signs including hypersecretions, tremors, status epilepticus, respiratory distress, and death. Miosis and rhinorrhea are the most common clinical findings in those individuals acutely exposed to OP nerve agents. Prolonged seizures are responsible for the neuropathology. The brain region that shows the most severe damage is the amygdala, followed by the piriform cortex, hippocampus, cortex, thalamus, and caudate/putamen. Current medical countermeasures are only modestly effective in attenuating the seizures and neuropathology. Anticonvulsants such as benzodiazepines decrease seizure activity and improve outcome, but their efficacy depends upon the administration time after exposure to the nerve agent. Administration of benzodiazepines may increase the risk for seizure recurrence. Recent studies document long-term neurologic and behavior deficits, and technological advances demonstrate structural brain changes on magnetic resonance imaging.