Skew deviation and ocular tilt reaction as presenting feature of CACNA1A mutation.

We report the case of a 9-year-old girl with aggravation of childhood left head tilt without diplopia. She had right hypertropia and right incyclotorsion, which was compatible with skew deviation and ocular tilt reaction (OTR). She had ataxia, epilepsy, and cerebellar atrophy. Her OTR and neurologic dysfunctions were secondary to a channelopathy caused by CACNA1A mutation.

Effect of phenytoin on retinal ganglion cells in acute isolated optic neuritis.

OBJECTIVE: Phenytoin has been shown to reduce the peripapillary retinal nerve fiber layer (pRNFL) loss in optic neuritis (ON). We evaluated the effects of phenytoin on retinal ganglion layers and visual outcomes of newly diagnosed acute ON. METHODS: A randomized, placebo-controlled trial was conducted in a tertiary referral eye hospital and patients with the first episode of typical demyelinating ON, without any history of multiple sclerosis were randomly assigned to phenytoin or placebo. The thickness of ganglion cell-inner plexiform layer (GCIPL) measured by optical coherence tomography (OCT) was considered as the primary outcome. RESULTS: One patient in the phenytoin group developed severe cutaneous rashes that progressed to Stevens-Johnson syndrome (SJS)/toxic epidermal necrosis (TEN), and further allocation of patients to the phenytoin group was stopped, and finally fifteen participants were included in the phenytoin group. Fifty-one patients were enrolled to the placebo group, from which four were excluded. Both visual acuity and field were not significantly different between the control and phenytoin groups after 1 and 6 months. Mean 3- and 6-mm macular GCIPL thicknesses decreased after 6 months to 73.6 ± 14.1 and 57.9 ± 7.5 µm, respectively, in the phenytoin group and to 71.6 ± 15.7 and 55.6 ± 6.6 µm, respectively, in the placebo group with no significant differences between the two groups (P = 0.77 and P = 0.26, respectively, linear multilevel model). CONCLUSION: Phenytoin is not probably safe and effective as neuroprotection after acute ON. Further investigation with other sodium channel inhibitors could be considered.

Improved Function of Orbicularis Oculi by Dynamic Transfer of Contralateral Orbicularis Oculi Muscle in Patients with Facial Palsy.

PURPOSE: The purpose of this study is to introduce the results of a new surgical technique in patients with complete facial nerve palsy using the dynamic muscle transfer of orbicularis oculi muscle (OOM) flap from the contralateral side. METHODS: This case series presents a new surgical technique in three patients with complete facial palsy and lagophthalmos who were unresponsive to other modalities. In this technique, a rectangular flap of OOM was dissected from the upper lid of fellow eye and transferred to the affected eye through a subcutaneous tunnel over the nasal bridge. The flap was divided into two halves for upper and lower lids. Each half was incised longitudinally to increase the length of the flap and cover the lateral part of the affected eyelids. RESULTS: Improvement in exposure keratitis, lagophthalmos, and other related symptoms was observed as soon as the 1st week after the surgery. Partial blinking recovered and the operation was uneventful. CONCLUSION: Muscle flap transfer technique using contralateral OOM for complete facial palsy can be considered as a helpful alternative in patients who are still symptomatic despite conventional treatment modalities.

Photoreceptor outer nuclear layer thickness changes in optic neuritis follow up.

BACKGROUND: Ganglion cell inner plexiform (GCIP) layer thinning following acute optic neuritis (ON) is well-known. However, the onset of changes in the outer retinal layers needs further study. In this study, we determine longitudinal changes in retinal layer thickness in ON. METHODS: Thirty ON patients underwent optical coherence tomography (OCT) and visual function testing at baseline, one month, and 6 months. RESULTS: Mean GCIPL thickness decreased at one month relative to baseline from 63.6 ± 7.5 µm to 57.3 ± 6.8 µm in 3 mm ring (P < 0.001). There were no significant changes in GCIPL thickness between one and 6 months (P = 0.42). Outer nuclear layer (ONL) thickness in the 6 mm macular area increased from 58.9 ± 5.8 µm to 63.2 ± 6.8 µm at one month (P < 0.001) and then decreased at six month (58.8 ± 5.8 µm) relative to one month, reaching the baseline thickness. While GCIPL thinning at 1 month correlated with baseline visual acuity, change in the central ONL thickness from baseline to month 1 predicted visual outcome at month 6 (r = 0.6, P = 0.001). CONCLUSIONS: Following ON, transient changes occur in the photoreceptor nuclei layer and then revert to baseline. This finding could predict 6 month visual acuity after ON.

Optic canal size in idiopathic intracranial hypertension and asymmetric papilledema.

OBJECTIVE: Asymmetric papilledema (AP) is a rare condition in idiopathic intracranial hypertension (IIH). As the pathophysiology of papilledema developement in IIH remains unclear, the study of AP could clarify some etiologic aspects. We aimed to evaluate bony optic canal size in IIH patients with AP. PATIENTS AND METHODS: All IIH patients based on modified Dandy criteria in our referral tertiary eye hospital underwent neuro-opthalmologic exams and grading of papilledema according to modified Frisén scale. Very asymmetric papilledema (VAP) defined as a ≥2 grade difference between the two eyes. Clinical features, cerebrospinal fluid opening pressure (CSF OP), best corrected visual acuity, Humphery visual field, and brain magnetic resonance imaging (MRI) and MR venography was performed for all patients. Spiral orbital computed tomography (CT) scan which is the choice method for details of bony structures with axial, coronal and sagittal planes was done in patients with VAP. RESULT: 59 patients with IIH were diagnosed that 18.6% of them (n = 11) had VAP. There was no IIH patient with strictly unilateral Papilledema. Presenting symptoms and CSF OP was not significantly different between patients with symmetric and asymmetric papilledema. In patients with VAP, bony optic canal size was not statistically significant different in axial, coronal and sagittal plane when comparing the eye with higher grade edema to the fellow eye. CONCLUSION: Our study showed that bony optic canal size evaluated by orbital CT scan was not different in VAP in IIH patients. Finding the exact pathophysiology of AP need further studies.

Plasma levels of CTRP-3, CTRP-9 and apelin in women with multiple sclerosis.

BACKGROUND: Recently, adipocytokines have been shown to play a pivotal role in autoimmune and inflammatory-related disease. The purpose of this study was to compare the levels of CTRP3, CTRP9, adiponectin and apelin- in Multiple Sclerosis (MS) patients with healthy subjects and their relationship with clinical parameters and the levels of pro-inflammatory mediators. METHODS: Plasma levels of CTRP3, CTRP9, apelin, TNF-α, hs-CRP, and adiponectin were evaluated in 24 healthy women and 26 women with relapsing-remitting MS using immunoassay methods. RESULTS: The plasma apelin level of the MS patients was significantly lower than that of healthy controls. The concentration of TNF-α and adiponectin were significantly higher in MS patients compared to the healthy controls. Plasma CTRP3, CTRP9 and hs-CRP levels were not significantly different between the two groups. There was no correlation between these adipokines and inflammatory mediators. A statistically significant negative correlation was observed between plasma concentrations of apelin with expanded disability status scale (EDSS) scores and number of relapse. CONCLUSIONS: Our findings suggest that adipokines, particularly apelin and adiponectin, may contribute to the pathogenesis of MS and can be considered as a biomarker or as a therapeutic target for the treatment of this disease.

Optical Coherence Tomography Angiography of a Pale Optic Disc in Demyelinating Optic Neuritis and Ischemic Optic Neuropathy.

BACKGROUND: In the setting of a pale optic disc, distinguishing a previous episode of optic neuritis (ON) from that of nonarteritic anterior ischemic optic neuropathy (NAION) may be difficult on clinical examination. Differences in peripapillary vascular network structures, if present, might be of diagnostic utility. METHODS: Thirty-five eyes with demyelinating ON, 33 eyes with NAION, and 81 eyes of normal subjects were imaged with optical coherence tomography angiography (OCT-A) to assess peripapillary vascular density (VD). In addition, OCT was used to measure peripapillary retinal nerve fiber layer (RNFL) thickness. Areas under the receiver operating characteristic curves were used to differentiate ON vs NAION. RESULTS: NAION eyes had significantly thinner RNFL thickness than ON eyes. Age-adjusted analysis showed that the peripapillary VD values were significantly reduced in NAION (48.3 ± 7.4%) and ON eyes (54.7 ± 6.1%) compared with healthy controls (62.1 ± 4.6%); pairwise comparisons showed statistically significant differences among all 3 groups. After adjustment for severity of optic nerve injury according to mean RNFL thickness, all VD parameters were not significantly different between ON and NAION eyes. The area under the receiver operating characteristic curves for differentiating NAION from ON eyes was similar for VD (0.75) and RNFL thickness (0.74). CONCLUSIONS: Peripapillary VD measurement performs as well as RNFL thickness for distinguishing previous episodes ON and NAION. VD decline might be secondary to RNFL damage and, therefore, VD data have a limited role differentiating these 2 disorders.

Role of intellectual capital on creation of innovation capabilities in HIS and computer units.

INTRODUCTION: Simultaneously along with information technology progress, knowledge has considered as a fundamental base for economic growth for the time being. In today's knowledge-based economy, production and exploitation of knowledge play the main roles in the process of wealth creation. The current revolution in information technology has given new light to the importance of knowledge such that it has now become the base of economy in today's world. In today's knowledge-based economy, production and exploitation of knowledge play the main roles in the process of wealth creation. Considering key contributions of knowledge management in competitiveness of organizations and their entry into global arenas, this study sought to evaluate the impact of different aspects of intellectual property on innovations in computer and health information system (HIS) units at selected medical center in the city of Isfahan during 2015. OBJECTIVES: The present study seeks to evaluate the impact of different aspects of intellectual property on innovations in computer and HIS units at selected medical centers in the city of Isfahan during 2015 (2015). SETTINGS AND DESIGN: Population of this research includes staff working in computer and HIS units of 10 medical centers. Data were collected using a questionnaire made by the researcher. A written questionnaire (also referred to as self-administered questionnaire) is a data collection tool in which written questions are presented that are to be answered by study individuals, where for the case of the present study include staff members working at computer and HIS units of 10 medical centers. MATERIALS AND METHODS: In the first stage, medical factors were determined by experts of Isfahan University of Medical Sciences as intellectual property. Factors were then distributed randomly among 100 employees during a survey, after considering their validity and reliability. STATISTICAL ANALYSIS: Descriptive and inferential statistics were used for data analysis. RESULTS: Data analysis showed that innovation is one of the most important indicators of intellectual capital in computer and HIS units of medical centers and has a higher than average importance. CONCLUSIONS: The results of this study, in addition to providing guidelines in the management of intellectual capital in Isfahan province hospitals, can be used as a model for improving innovation in hospitals and understanding various factors affecting organizational innovation.

"Eight and a half" and "nine syndrome" rare presentation of pontine lesions; case reports and review of literature.

Background: Eight-and-a-half syndrome (EHS) is one-and-a-half syndrome [(conjugated horizontal gaze palsy and internuclear ophthalmoplegia (INO)] plus ipsilateral fascicular seventh cranial nerve palsy. Involvement of lower pontine tegmentum including the abducens nucleus, the ipsilateral medial longitudinal fasciculus (MLF), and the adjacent facial colliculus contribute to the clinical findings of EHS. Recently, nine syndrome with addition of hemiparesis or hemianesthesia to EHS (due to involvement of adjacent corticospinal tract or medial lemniscus) is suggested. Methods: Consecutive patients with presentation of EHS or nine syndrome were reviewed from referral neuro-ophthalmology and strabismus clinics. Results: Three cases of EHS were identified with different etiologies of intracerebral hemorrhage (ICH), demyelination, and neuromyelitis optica spectrum disorder. Moreover, one case of "nine syndrome" due to ICH was described. Brain magnetic resonance imaging (MRI) in all of them revealed lesion in lower tegmentum of pons. Conclusion: Apart from different etiologies, recognition of EHS or nine syndrome allows precise localization of the lesion to lower pontine tegmentum ipsilaterally.

Association of ocular findings and outcome in cerebral venous thrombosis.

BACKGROUND: Cerebral venous thrombosis (CVT) is a potentially life-threatening underdiagnosed disease. Headache is a common but nonspecific finding in CVT. Other features such as ocular finding can assist to correct diagnosis, but their frequency in CVT has not been previously evaluated. The aim of this study is to evaluate the ocular symptoms and signs in CVT and their association with outcome. METHODS: The demographic, clinical, laboratory, radiological, and outcome data were collected and analyzed from patients referred to a tertiary hospital during 6 years. Based on delay from symptom onset to hospital admission, mode of onset was categorized as acute (<2 days), subacute (2-14 days), or chronic (>14 days). RESULTS: Fifty-three patients were identified with a mean age of 33.7 years (17-60 years). Ocular symptoms and signs were the most frequent clinical presentations (77.4%) following headache (83%). Papilledema and diplopia were the main findings in chronic CVTs (P = 0.003 and 0.002, respectively). Proptosis was significantly associated with thrombosis in cavernous sinus (P = 0.00). Otherwise, there was no relationship between any specific ocular findings and the type or number of thrombosed sinus or hemorrhagic infarction. Mortality rate and recurrence in our patients were 3.8% and 5.7%. Absence of proptosis and vision loss was associated with favorable outcome (P = 0.001 and 0.003, respectively). CONCLUSION: Ocular features were among the most common presentation of CVT in every three phases of CVT and could be the sole finding of CVT. Patients who do not have vision loss and proptosis might have a better outcome in CVT.

Duodenal Metastases From Renal Cell Carcinoma Presented With Melena: Review and Case Report.

Renal cell carcinoma (RCC) metastasis to duodenum is very rare and only a few case reports are available in the literature. We here reported a patient with solitary duodenal metastasis presented with melena six years after right nephrectomy. The patient underwent upper gastrointestinal endoscopy showing ulcerative mass at the second portion of duodenum and biopsy of this mass was consistent with metastatic RCC. Metastasis work up did not find any other site of malignancy, thus Whipple's operation (Pancreaticoduodenectomy) was performed. In conclusion metastasis from RCC should be considered in mind in patients with history of nephrectomy presenting with gastrointestinal symptoms and a complete evaluation, especially endoscopic examination followed by biopsy, is suggested.

Clinical features, risk factors, and outcome of cerebral venous thrombosis in Tehran, Iran.

INTRODUCTION: Despite increasing the use of magnetic resonance imaging (MRI), cerebral venous sinus thrombosis (CVST) has remained an under-diagnosed condition. In this study, characteristics and frequency of various risk factors of CVST patients in a tertiary referral hospital were closely assessed. METHODS: Patients with an unequivocal diagnosis of CVST confirmed by MRI and magnetic resonance venography during 6 years of the study were included. All data from the onset of symptoms regarding clinical signs and symptoms, hospital admission, seasonal distribution, medical and drug history, thrombophilic profile, D-dimer, neuroimaging, cerebrospinal fluid findings, mortality, and outcome were collected and closely analyzed. RESULT: A total of 53 patients with female to male ratio of 3.07 and mean age of 33.7 years were included in the study. Headache and papilledema were the most frequent clinical features (44 and 36 patients, respectively). An underlying disease (diagnosed previously or after admission) was the most common identified risk factor for CVST in both females and males (21 patients). A total of 15 women used the oral contraceptive pill (OCP) where 12 of them had simultaneously other predisposing factors. Overall, 19 patients (36%) had more than one contributing factor. D-dimer had a sensitivity of 71.4% in CVST patients. The mortality of patients in this study was 3.7% (n = 2). Focal neurologic deficit and multicranial nerve palsy were associated with poor outcome which defined as death, recurrence, and massive intracranial hemorrhage due to anticoagulation (P = 0.050 and 0.004, respectively). CONCLUSION: Unlike most of the CVST studies in which OCP was the main factor; in this study, an underlying disease was the most identified cause. Considering the high probability of multiple risk factors in CVST that was shown by this study, appropriate work up should be noted to uncover them.

Approach to a patient with blepharoptosis.

Blepharoptosis or drooping of upper eye lid is a common, but non-specific sign of neurological diseases which sometimes could herald a life-threatening disorder. First, the diagnosis of ptosis should be established by considering four clinical measurements: palpebral fissure height, marginal reflex distance, upper eyelid crease, and levator function test. The diagnostic categories of ptosis are scheduled as pseudo-ptosis, congenital, and acquired ptosis. Acquired causes include mechanical, myogenic, neuromuscular, neurogenic, and cerebral. Each category with diseases presenting with ptosis was described in detail. Considering some features, such as involvement of other cranial nerves, extraocular muscle, pupil size and reactivity, and unilateral or bilateral presentation of ptosis, could help to narrow the differential diagnosis.

Comparison of electrophysiological findings in axonal and demyelinating Guillain-Barre syndrome.

BACKGROUND: Incidence and predominant subtype of Guillain-Barre syndrome (GBS) differs geographically. Electrophysiology has an important role in early diagnosis and prediction of prognosis. This study is conducted to determine the frequent subtype of GBS in a large group of patients in Iran and compare nerve conduction studies in axonal and demyelinating forms of GBS. METHODS: We retrospectively evaluated the medical records and electrodiagnostic study (EDS) of 121 GBS patients who were managed in our hospital during 11 years. After regarding the exclusion criteria, patients classified as three groups: acute inflammatory demyelinating polyneuropathy (AIDP), acute motor axonal neuropathy (AMAN), and acute motor sensory axonal neuropathy (AMSAN). The most frequent subtype and then electrophysiological characteristic based on the time of EDS and their cerebrospinal fluid (CSF) profile were assessed. RESULTS: Among 70 patients finally included in the study, 67% were men. About 63%, 23%, and 14% had AIDP, AMAN, and AMSAN, respectively. AIDP patients represented a wider range of ages compared with other groups. Higher levels of CSF protein, abnormal late responses and sural sparing were more frequent in AIDP subtype. Five AMSAN patients also revealed sural sparing. Conduction block (CB) was observed in one AMAN patient. Prolonged F-wave latency was observed only in AIDP cases. CB and inexcitable sensory nerves were more frequent after 2 weeks, but reduced F-wave persistency was more prominent in the early phase. CONCLUSION: AIDP was the most frequent subtype. Although the electrophysiology and CSF are important diagnostic tools, classification should not be made based on a distinct finding.

Clinical and electrophysiological features of Guillain-Barré syndrome in Iran.

We evaluated the clinical and electrophysiological characteristics of 121 consecutive patients admitted with Guillain-Barré syndrome (GBS) to a tertiary referral hospital in Tehran, Iran, from 1997 to 2007. The mean age of patients was 38.9 (standard deviation 19.7) years. The predominant subtype of GBS was the demyelinating form. Miller Fisher syndrome was present in 3.3% of patients. There was no significant seasonal clustering among the three subtypes, but axonal variants tend to occur in summer. In contrast with other subtypes, the majority of patients with acute motor-sensory axonal neuropathy (AMSAN) were female (72.3%). AMSAN patients also had significantly longer hospitalization time (p=0.002) and intensive care unit (ICU) admission (p=0.017), while none of the acute motor axonal neuropathy patients needed ICU admission. Involvement of cranial nerves and symmetry of signs were significantly detected in the demyelinating variant (p=0.021 and p=0.040, respectively). The overall mortality was 3.3%.

Idiopathic (primary) generalized epilepsy. Traditional versus new antiepileptic drugs.

Idiopathic generalized epilepsies (IGE) are genetic based seizures with normal neurologic exam, intelligence, and imaging studies. Based on the age of onset and prominent seizure type, different syndromes were identified. The purpose of this study is to summarize the characteristics, prognosis, and choices of antiepileptic drugs (AED) in common syndromes of IGE. In addition, we review the updated role of new AEDs in specific syndromes of IGE. The first choice AED is usually valproate. Most drug trials on the effects of new AEDs compared them with placebo and not valproate. However, some of the broad spectrum new AEDs may be considered as the first choice in specific conditions. In true refractory patients, combination therapy and vagal nerve stimulation could be the next option. In the proper management of IGE, neurologists should consider the predominant seizure type, patient gender, co-morbidities, and antiepileptic drugs that may aggravate a specific seizure type.