Efficacy of apraclonidine eye drops in treating ptosis secondary to myasthenia gravis: A pilot clinical trial.

INTRODUCTION/AIMS: Most patients with myasthenia gravis (MG) develop ocular manifestations during their illness and up to 22% may have isolated ocular myasthenia gravis (OMG). Apraclonidine elevates the eyelid by activating alpha-2 receptors on Muller's muscle, an accessory eyelid elevator muscle. In this study we evaluate the effect of apraclonidine in alleviating ptosis secondary to MG. METHODS: This clinical trial (NCT05045248) was done at the American University of Beirut Medical Center. Patients with ptosis secondary to MG were administered two drops of apraclonidine 0.5% solution to the most affected eye. We measured palpebral fissure height (PF), marginal reflex distance-1 (MRD1), marginal reflex distance-2 (MRD2), and levator function (LF) before drug administration and at 1, 5, 30, and 60 minutes after administration. RESULTS: Ten participants were enrolled in the study. Improvement in all eyelid measurements was noted in all participants as early as 1 minute after apraclonidine administration. From baseline to 60 minutes after administration, average PF increased from 8.8 ± 1.9 mm to 14.2 ± 2.6 mm, MRD-1 from 1.7 ± 1.4 mm to 5.4 ± 2.9 mm, MRD-2 from 7.1 ± 1.3 mm to 8.8 ± 1.7 mm, and LF from 13.4 ± 2.9 mm to 17.5 ± 2.4 mm. All increases were statistically significant. DISCUSSION: Apraclonidine may alleviate ptosis secondary to MG and may be an effective alternative treatment for this group of patients.

Correlation of Pattern Reversal and Flash Visual Evoked Potential Latencies With Optical Coherence Tomography Measures in Patients With Optic Neuropathy and Patients With Multiple Sclerosis Without Optic Neuropathy.

PURPOSE: The object of the study is to relate the pattern reversal visual evoked potential (PRVEP) and flash VEP (f-VEP) latencies with retinal neurons and their fibers. METHODS: We studied 104 eyes. Forty-two eyes from patients with optic neuritis (ON), 28 eyes from patients with multiple sclerosis without involvement of the optic nerves (MS-non-ON), and 34 eyes of normal controls. RESULTS: Pattern reversal visual evoked potential latency is more delayed in patients with ON than in patients with multiple sclerosis nonON. Flash visual evoked potential (f-VEP) latency was delayed in both categories. Peripapillary retinal nerve fiber layer (pRNFL) and ganglion cell/inner plexiform layer (GCIPL) thickness was lower in patients with ON and multiple sclerosis non-ON. In patients with ON, f-VEP latencies correlated negatively with pRNFL thickness but not GCIPL thickness. In patients with ON, PRVEP latencies did not correlate with pRNFL thickness but correlate negatively with GCIPL thickness. CONCLUSIONS: Patients with ON have delayed VEPs and thinner optical coherence tomography values. Flash visual evoked potentials correlate with pRNFL, indicating axonal pathology. PRVEP correlate with GCIPL, indicating ganglion cell pathology. Abnormal PRVEP with preserved normal f-VEP indicate isolated myelin damage. Abnormalities in both PRVEP and f-VEP indicate myelin and axonal damage in the optic nerve. Combining the results of PRVEP, f-VEP, pRNFL, and GCIPL, one can define the location, type, and extent of the lesion in the macula and optic nerve.

Rituximab Treatment for Chronic Idiopathic Axonal Polyneuropathy.

ABSTRACT: Chronic idiopathic axonal polyneuropathy is a disorder of unknown etiology resulting in progressive weakness and sensory disturbances predominantly in the hands and feet. Nerve conduction studies and electromyography confirm axonal damage in the nerves of the upper and lower extremities. The pathology is symmetrical with a distal predilection. Patients usually do not respond to the classical treatment with steroids, intravenous immunoglobulin, plasmapheresis, or immunosuppressant drugs. We describe 2 cases of chronic idiopathic axonal polyneuropathy who received intravenous rituximab as a last resort because of the severity of their symptoms. Both patients showed dramatic improvement in their weakness, muscle atrophy, numbness, and paresthesias only few weeks after the induction dose. Their daily functional activities improved to self-independence.

Spinal cord infarction in a young adult: What is the culprit?

Context: Non-traumatic spinal cord infarction in the young adult is usually associated with a single or multiple genetic mutations. There are certain gene mutations that are more commonly associated with spinal cord infarctions. Homozygous or heterozygous mutations, and single mutations or polymorphism, do not seem to determine the probability of spinal cord infarction.Findings: We add another case of spinal cord infarction in a young adult to the few reported in the literature, and discuss the value of genetic studies and genetic counseling.Conclusion: Non-traumatic spinal cord infarction is usually caused by a genetic mutation. Early recognition of this entity and definition of the mutation will limit unnecessary and invasive procedures and allows early rehabilitation, preventive measures for complications and genetic counseling.

Auricular Myoclonus: A Case Report and Literature Review.

Auricular myoclonus is an extremely rare disorder that manifests as involuntary semi-rhythmic movements of the auricle. We report the case of a 15-year-old female who presented to our outpatient clinics with bilateral spontaneous, uncontrolled movements of the auricles (auricular myoclonus) that are only briefly suppressible by some facial movements and completely disappear during sleep. Needle electromyography revealed baseline tonic motor unit activity with bursts of higher motor units amplitude in the posterior and superior auricularis muscles. Her symptoms improved with pregabalin intake, however, with incomplete resolution. This paper will review previously reported cases, as well as the different treatment modalities that have been used.

Iatrogenic sciatic nerve injury during liposuction and fat tissue grafting: a preventable surgical complication with devastating patient outcomes.

BACKGROUND: Liposuction and autologous fat transplantation represent widely used techniques in plastic surgery to correct or enhance contour irregularities in the face and body. While these techniques are assumed to be safe, liposuction and fat grafting impose a hidden risk for serious preventable surgical complications and adverse patient outcomes. We hereby report two cases of iatrogenic sciatic nerve injury and provide recommendations on how to prevent this serious surgical complication. CASE PRESENTATION: We present two cases of sciatic nerve injury - one related to liposuction and the other related to gluteal lipo-augmentation. The first case is a 20-year-old female who presented to our institution with right leg weakness one week after undergoing scar revision and fat grafting in the left peri-oral region to correct peri-oral cicatricial banding and tissue atrophy. Fat was harvested from the medial thigh using a 3-mm cannula with low-pressure manual suction, utilizing minimal tumescent solution. Nerve conduction velocity and electromyography testing suggested a right-sided sciatic nerve lesion as a result of direct trauma. The patient was observed for a period of 4 months during which time she underwent physical therapy. At four months post-operatively, she had recovered completely. The second case is that of a 39-year-old female who presented to our institution with left-sided weakness of foot eversion and dorsiflexion five days after she had undergone liposuction of the thighs, flanks, and abdomen in addition to gluteal lipo-augmentation at an outside facility. The patient had undergone super wet liposuction in the areas of the abdomen, flanks and thighs. 200 mL of collected fat was then transplanted into each buttock at multiple levels. Post-operative computed tomography and electroneurography revealed acute left sided sciatic injury consistent with direct trauma to or compression of the sciatic nerve. The patient underwent an extensive regimen of physical therapy. Three months post-operatively, the patient had regained some motor function, but was lost to follow-up thereafter. CONCLUSION: The sciatic nerve is relatively superficial and vulnerable to injury in the upper thigh and lower buttock regions. Therefore, extreme care should be taken when working in these areas to avoid direct or indirect injury to the sciatic nerve by compression or traction.

Divergent Features of Mitochondrial Deficiencies in LGMD2A Associated With Novel Calpain-3 Mutations.

Limb girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive disorder characterized by progressive muscle weakness and wasting. LGMD2A is caused by mutations in the calpain-3 gene (CAPN3) that encodes a Ca2+-dependent cysteine protease predominantly expressed in the skeletal muscle. Underlying pathological mechanisms have not yet been fully elucidated. Mitochondrial abnormalities have been variably reported in human subjects with LGMD2A and were more systematically evaluated in CAPN3-knocked out mouse models. We have combined histochemical, immunohistochemical, molecular, biochemical, and ultrastructural analyses in our study in order to better outline mitochondrial features in 2 LGMD2A patients with novel CAPN3-associated mutations. Both patients underwent detailed clinical evaluations, followed by muscle biopsies from the quadriceps muscles. The diagnosis of LGMD2A in both patients was first suspected on the basis of a typical clinical localization of the muscle weakness, and confirmed by molecular investigations. Two novel homozygous mutations, c.2242C>G (p.Arg748Gly) and c.291C>A (p.Phe97Leu) were identified: c.2242C>G (p.Arg748Gly) mutation was associated with a significant mitochondrial mass depletion and myofibrillar disruption in the first patient, while c.291C>A (p.Phe97Leu) mutation was accompanied by reactive mitochondrial proliferation with ragged-red fibers in the second patient. Our results delineate CAPN3 mutation-specific patterns of mitochondrial dysfunction and their ultrastructural characteristics in LGMD2A.

Central Nervous System Bleeding After a Lumbar Puncture: Still an Ongoing Complication.

BACKGROUND A lumbar puncture is a procedure performed to uncover the state of the central nervous system by analysis of the cerebrospinal fluid. It is done also to infuse medications in the subdural space. A lumbar puncture should not cause central nervous system bleeding, but this complication is still occurring in certain cases. CASE REPORT We present 2 cases where a lumbar puncture was performed in the emergency department. The first patient had severe inflammatory lower back pain and received epidural steroids through a lumbar puncture and the second case presented with the clinical picture of meningitis and a lumbar puncture was performed for diagnostic purposes. In both cases, major complications arose secondary to bleeding in the cerebrospinal fluid. The first case developed a bleeding tendency because the patient had acute renal failure and was on low molecular weight heparin. The second case had low platelet count because of myelodysplasia. Both cases bled into the subarachnoid space and subdural space resulting in compression of the cauda equine and paralysis. The bleeding eventually flowed into the posterior fossa resulting in vasospasm of the posterior circulation and infarction of the posterior cerebral arteries. CONCLUSIONS We concluded that both patients sustained complications from the lumbar puncture because of a bleeding tendency secondary to systemic illnesses and multiple drugs and their side effects. We recommend that patients' medical condition be well evaluated, and proper blood studies be performed prior to lumbar punctures to avoid major morbidities.

Posterior Tibial Nerve Lymphoma Presenting as Tarsal Tunnel Syndrome: A Case Report.

We report a case of isolated posterior tibial B-cell lymphoma of the posterior tibial nerve presenting as tarsal tunnel syndrome. This diagnosis was considered because of the clinical presentation and electrophysiologic abnormalities. It was further confirmed by the magnetic resonance imaging findings of the ankle and tissue pathologic findings. Whole body positron emission tomography confirmed this to be a localized lymphoma involving the peripheral nerve. The patient underwent chemotherapy with complete tumor resolution. She had had no relapse after 8 months of follow-up. Isolated peripheral nerve lymphomas are very rare, and involvement of the posterior tibial nerve has not been previously reported. Furthermore, the present case report highlights the importance of the clinical examination in the diagnosis of tarsal tunnel syndrome before performing surgical decompression.

Pattern reversal visual evoked potentials in adults: variability with age.

PURPOSE: Pattern reversal visual evoked potential (PRVEP) is an electrophysiological test for evaluating the visual pathway. This study measured the changes in the latencies and amplitudes of the PRVEP with age and gender in normal subjects. METHODS: Healthy participants (n=81; 162 total eyes), between the ages of 20 and 92 years were recruited for the study. Stimulation was performed monocularly with a high-contrast (>50%) black-white checkerboard pattern with a check size of 30° at a reversal rate of 2 Hz, a band-pass of 1-100 Hz, a sweep of 250 msec and an average of 150 stimulations in a dark room. Mean and standard deviations for three latencies (N75, P100 and N145) and the amplitude (N75-P100) for each decade were measured. RESULTS: There was a linear trend by age for all three latencies, indicating that the higher age groups had longer latencies. The latencies decreased in the 5th decade before increasing in the higher age groups. The amplitude of N75-P100 decreased with age. The P100 latencies were longer in males than females in all age groups and the difference increased with increasing age.

Safety and efficacy of reduced fingolimod dosage treatment.

BACKGROUND: Oral fingolimod is a sphingosine-1-phosphate-receptor modulator that prevents the egress of lymphocytes from lymph nodes. Fingolimod reduces relapse rate and delays disability progression in patients with relapsing forms of multiple sclerosis (MS). Elevation of liver function tests (LFTs) and reduction in peripheral-blood lymphocyte counts were among the most common adverse events reported in phase II, phase III, and extension studies. OBJECTIVE: To describe eight patients in whom fingolimod dose was reduced to every other day (n=6) or every third day (n=2) due to increased LFTs more than 3 times the upper limit of normal (ULN) (n=2) or decreased lymphocyte count by ≤0.2×10(9)/L (n=6). RESULTS: Fingolimod dose reduction resulted in reversal of laboratory abnormalities. Clinically, none of the 8 patients developed clinical relapses, but five patients had new lesions on magnetic resonance imaging (MRI), one of whom with disability progression, and one patient converted to secondary progressive MS (SPMS). CONCLUSION: Reducing the frequency of fingolimod administration can reverse laboratory abnormalities but may have a negative impact on drug efficacy.

Gene mutations and stroke in the young adult.

BACKGROUND: The purpose of this study is to evaluate the existence of the genetic mutation in the different types of cerebral and spinal strokes in previously healthy young adults. METHODS: We performed a retrospective study of the medical records of 35 young adults who presented to our institution with the diagnosis of acute cerebrovascular insult. We defined the localization of their stroke, specified their risk factors, defined their genetic mutation, and correlated these variables to assess their significance in the predisposition of stroke in the young. RESULTS: We found that the MTHFR and Factor V gene mutations are the most likely mutations to be associated with cerebral strokes in young adults. Spinal strokes are also associated with beta fibrinogen, factor XIII, and prothrombin II mutations. We did not find that a homozygous gene mutation is more thrombogenic than its heterozygous component. CONCLUSIONS: We concluded that the major etiologies for stroke in young adults were multiple gene mutations rather than systemic illnesses. We found out that mutation of the MTHFR gene in isolation or in combination with other gene mutations is the most important risk factor for stroke in the young.

Validation of the 10/66 Dementia Research Group diagnostic assessment for dementia in Arabic: a study in Lebanon.

OBJECTIVES: In the North Africa and Middle East region, the illiteracy rates among older people are high, posing a great challenge to cognitive assessment. Validated diagnostic instruments for dementia in Arabic are lacking, hampering the development of dementia research in the region. The study aimed at validating the Arabic version of the 10/66 Dementia Research Group (DRG) diagnostic assessment for dementia to determine whether it is suitable for case ascertainment in epidemiological research. METHODS: A total of 244 participants older than 65 years were included, 100 with normal cognition and 144 with mild to moderate dementia. Dementia was diagnosed by clinicians according to Diagnostic and Statistical Manual of Mental Disorders (Fourth Edition) criteria. Depression was diagnosed using the Geriatric Mental State. Trained interviewers blind to the cognitive status of the participants administered the 10/66 DRG diagnostic assessment to the participants and interviewed the caregivers. The discriminatory ability of the 10/66 DRG assessment and its subcomponents were evaluated against the clinical diagnoses. RESULTS: Half of the participants had no formal education and 49% of them were depressed. The 10/66 DRG diagnostic assessment showed excellent sensitivity (92.0%), specificity (95.1%), positive predictive value (PPV, 92.9%), and low false-positive rates among controls with no formal education (8.1%) and depression (5.6%). Each subcomponent of the 10/66 DRG diagnostic assessment independently predicted dementia diagnosis. The predictive ability of the 10/66 DRG assessment was superior to that of its subcomponents. CONCLUSION: The 10/66 DRG diagnostic assessment for dementia is well suited for case ascertainment in epidemiological studies among Arabic-speaking older population with high prevalence of illiteracy.