Fasciculation Research Articles

Prion Diseases

Prions refer to abnormal misfolded proteins which propagate rare, rapidly progressive, and inevitably fatal neurodegenerative infectious diseases affecting both humans and non-human mammals. The most common human prion disease is Creudtzfeldt-Jakob disease (CJD), aetiologically categorized as either (1) sporadic (sCJD), (2) acquired via infection (aCJD), (3) hereditary (hCJD), or (4) variant (vCJD). vCJD, in particular, is commonly known due to its contraction via consumption of beef infected with Bovine Spongiform Encephalopathy, also known as Mad Cow Disease: a similarly fatal prion disease affecting cows. Regardless of the causative mechanism, all CJDs are characterized by the rapid decline in cognitive function, myoclonus (involuntary twitching and/or jerking of muscles), akinetic mutism, and ultimately, death in all cases. As suggested by the aforementioned symptoms, CJD is considered a rapidly progressive dementia (RPD), alongside Alzheimer’s, Huntington’s, and Parkinson’s disease.

Voiding dysfunction: Postsuccessful anastomotic urethroplasty for pelvic fracture urethral injury

Introduction: Anastomotic urethroplasty (AU) is the standard of care for pelvic fracture urethral injuries (PFUIs). Few patients despite having successful AU have postoperative voiding dysfunction due to an unrecognized neurogenic bladder. This article outlines clinical signs which may predict these injuries. Materials and Methods: We retrospectively evaluated our database of more than 1000 cases. Patients who underwent successful AU with postoperative voiding dysfunction were included. The success of urethroplasty was determined by a retrograde urethrogram (RGU) and endoscopic evaluation. Voiding dysfunction was defined as patients with poor urine flow (Qmax <10 ml/s) postsurgery. Urodynamics (UDS) was performed postoperatively on all patients. Results: Six men were included with an average age of 27 years (all required step 3 AU). A RGU and endoscopy revealed a patent anastomosis. UDS showed neurogenic detrusor underactivity. There were variable occurrences of other lower motor neuron findings – muscle atrophy, fasciculations, sensory loss, areflexia, and fecal incontinence. The common factor was that all patients had a foot drop on preoperative assessment. Conclusions: Coexistent neurogenic bladder with PFUI is rare. The presence of foot drop and other lower motor neuron signs is a predictor for voiding dysfunction. We recommend these patients should have UDS before surgical repair and must be counseled accordingly.

Biventricular false tendons

Biventricular false tendons

Assessment of different classification systems for predicting the risk of superior laryngeal nerve injury during thyroid surgery: a prospective cohort study.

A multitude of anatomical variations have been noted in the external branch of the superior laryngeal nerve (EBSLN). In this study, intraoperative neuromonitoring (IONM) was used to assess the potential value of the different classical EBSLN classifications for predicting the risk of EBSLN injury. In total, 136 patients with thyroid nodules were included in this prospective cohort study, covering 242 nerves at risk (NAR). The EBSLN was identified by observing the cricothyroid muscle twitch and/or typical electromyography (EMG) biphasic waveform. The EBSLNs were classified by Cernea classification, Kierner classification, and Friedman classification, respectively. The EMG parameters and outcomes of vocal acoustic assessment were recorded. The distribution of Cernea, Kiernea, and Friedman subtypes were, respectively, Cernea 1 (40.9%), Cernea 2A (45.5%), Cernea 2B (10.7%), Kierner 1 (40.9%), Kierner 2 (45.5%), Kierner 3 (10.7%), Kierner 4 (2.9%) and Friedman 1 (15.7%), Friedman 2 (33.9%), Friedman 3 (50.4%). The amplitudes of EBSLN decreased significantly after superior thyroid pole operation, respectively, in Cernea 2A (193.7 vs. 226.6μV, P=0.019), Cernea 2B (185.8 vs. 221.3μV, P=0.039), Kierner 2 (193.7vs. 226.6μV, P=0.019), Kierner 3 (185.8 vs. 221.3μV, P=0.039), Kierner 4 (126.8vs. 226.0μV, P=0.015) and Friedman type 2 (184.8 vs. 221.6μV, P=0.030). There were significant differences in Fmax and Frange for Cernea 2A (P=0.001, P=0.001), 2B (P=0.001, P=0.038), Kierner 2 (P=0.001), Kierner 3 (P=0.001, P=0.038), and Friedman 2 (P=0.004, P=0.014). In the predictive efficacy of EBSLN injury, the Friedman classification showed higher accuracy (69.8% vs. 44.3% vs. 45.0%), sensitivity (19.5% vs. 11.0% vs. 14.0%), and specificity (95.6% vs. 89.9% vs. 89.9%) than the Cernea and Kierner classifications. However, the false negative rate of Friedman classification was significantly higher than other subtypes (19.5% vs. 11.0% vs. 14.0%). Cernea 2A and 2B; Kierner 2, 3, and 4; and Friedman 2 were defined as the high-risk subtypes of EBSLN. The risk prediction ability of the Friedman classification was found to be superior compared to other classifications.

THRIFTY-A High-throughput Single Muscle Fiber Typing Method Based on Immunofluorescence Detection.

Skeletal muscle consists of a mixture of fiber types with different functional and metabolic characteristics. The relative composition of these muscle fiber types has implications for muscle performance, whole-body metabolism, and health. However, analyses of muscle samples in a fiber type-dependent manner are very time consuming. Therefore, these are often neglected in favor of more time-efficient analyses on mixed muscle samples. Methods such as western blot and myosin heavy chain separation by SDS-PAGE have previously been utilized to fiber type-isolated muscle fibers. More recently, the introduction of the dot blot method significantly increased the speed of fiber typing. However, despite recent advancements, none of the current methodologies are feasible for large-scale investigations because of their time requirements. Here, we present the protocol for a new method, which we have named THRIFTY (high-THRoughput Immunofluorescence Fiber TYping), that enables rapid fiber type identification using antibodies towards the different myosin heavy chain (MyHC) isoforms of fast and slow twitch muscle fibers. First, a short segment (<1 mm) is cut off from isolated muscle fibers and mounted on a customized gridded microscope slide holding up to 200 fiber segments. Second, the fiber segments attached to the microscope slide are stained with MyHC-specific antibodies and then visualized using a fluorescence microscope. Lastly, the remaining pieces of the fibers can either be collected individually or pooled together with fibers of the same type for subsequent analyses. The THRIFTY protocol is approximately three times as fast as the dot blot method, which enables not only time-sensitive assays to be performed but also increases the feasibility to conduct large-scale investigations into fiber type specific physiology. Graphical Overview Graphical overview of the THRIFTY workflow. Cut off a small segment (0.5 mm) of an individually dissected muscle fiber and mount it onto the customized microscope slide containing a printed grid system. Using a Hamilton syringe, fixate the fiber segment by applying a small droplet of distilled water on the segment and let it fully dry (1A). The remaining large segment of the fiber should be placed in the corresponding square on a black A4 paper (1B). Once the microscope slide has been fully mounted with fiber segments, submerge the slide in a polypropylene slide mailer (illustrated as a Coplin jar in the figure) containing acetone to permeabilize the fiber segments. Thereafter, incubate the slide with primary antibodies targeting MyHC-I and MyHC-II. Following washes in PBS solution, incubate the slides with fluorescently labeled secondary antibodies, wash again, and mount with a cover glass and antifade reagent (2). Identification of fiber type can be performed using a digital fluorescence microscope (3), whereafter the remaining pieces of the fiber segments (large) are pooled together according to their fiber type or individually collected for experiments on single fibers (4). Image modified from Horwath et al. (2022).

The challenges of cassava fermentation for Garri production: A case report of a woman with muscle twitching possibly due to cyanide poisoning from poor cassava fermentation

Cassava is native plant found in the tropical region of Africa and America. The tubers harvested from this plant is a four-runner to a variety of local delicacies. Usually, the tuber is harvested after a period of maturation and is then processed in the local manner before those foods are produced. There are numerous end-product that come out of the tuber, each food article following a particular route of processing. These local techniques had been passed down from generation to generation and all local farmers know them by heart. There are some modern innovations being introduced into this previously all local process. “Garri” is one of these food end-product that is generated from cassava tuber, others being fufu, tapioca, cassava floor and starch. If properly processed, it is a good food and there is usually no ontoward effect on the consumers, but if not done as routine, cyanide which is found naturally in cassava tuber may accumulate in the tissues of the consumer and possibly cause cyanide poisoning over a period of time. This short report is that of a local farmer with muscle twitching which we suspected may have been caused by cyanide poisoning from prolonged consumption of ill-prepared/processed cassava.

Lessons learned from long-term side effects after zoledronic acid infusion following denosumab treatment: a case report and review of the literature

BackgroundZoledronic acid is an intravenous, highly potent aminobisphosphonate for use in patients with primary or secondary osteoporosis. Zoledronic acid-induced prolonged side-effects are well known and quite common. However, severe side-effects can be a threat to life. We report a case of severe side-effects induced by zoledronic acid infusion, and its positive effect on long-term back pain.Case presentationIn 2012, a 62-year-old white native Finnish woman was operated on for an estrogen and progesterone receptor-positive breast cancer. After radiotherapy, an aromatase inhibitor (letrozole) was started. Nine months after the operation, the patient suffered a low-energy compression fracture of Th XII. She received denosumab to prevent fragility fractures and to improve bone mineral density. Letrozole was discontinued after 5.5 years, and the last denosumab injection was given after 7 years. Six months later, at the age of 71 years, the patient received a single intravenous zoledronic acid infusion. Suddenly, at 10 hours from the infusion, she complained of severe trismus, muscle twitching, spasms, and tingling, matching hypocalcemia and several other symptoms. Her serum 25-hydroxyvitamin D concentration was high (163 nmol/L), the concentration of serum calcium and calcium-ion was normal (2.32 mmol/L and 1.23 mmol/L, respectively). However, the neutrophil to lymphocyte ratio (NLR) was low (1.6). A complete recovery took 2 months. Zoledronic acid infusion also had a positive effect: for many years, the patient had suffered low back pain and strain, which came to an end after this single infusion.ConclusionIt is important that the potential patients receive sufficient information about the possibility of side-effects following the administration of intravenous zoledronic acid. To ensure that a zoledronic acid infusion is given as safely as possible, the safety information should include that the patient should not be left without monitoring for a minimum 24 hours after the infusion. Being alone and experiencing serious side-effects may lead to acute cardiac problems. Furthermore, the chronic low back pain and strain that our patient suffered for many years has clearly reduced for 16 months after infusion, so far. We conclude that this is a positive effect of zoledronic acid.

Atypical motor neuron disease variant: facial-onset sensory and motor neuronopathy syndrome (FOSMN)

BackgroundFacial-onset sensory and motor neuronopathy (FOSMN) is a rare disease whose cardinal features are initial asymmetrical facial sensory deficits slowly evolving and followed by bulbar symptoms and spreading of sensory and motor deficits from face to scalp, neck, and extremities.Case presentationWe described a 70-year-old man who presented with 6-month history of facial numbness on the left side, and gradual worsening of symptoms. Over several months, facial muscle weakness, dysarthria, and fasciculation had progressed. NCS, needle EMG and blink reflex responses suggested the diagnosis of FOSMN. The ganglioside panel (anti-GM1 and Gd1b) was positive. Considering the FOSMN autoimmune pathology hypothesis, IVIG treatment was given.ConclusionIn this case, we aimed to highlight the key clinical aspects of FOSMN and how to differentiate it from motor neuron disease and bring FOSMN to the attention of neurologists as a recently recognized and distinctive disorder.

Post COVID-19 Vaccination Associated Acquired Neuromyotonia

Objective Acquired neuromyotonia or Isaacs' syndrome is an immune mediated inflammatory disorder characterized by involuntary continuous muscle fiber activity manifesting as twitching and stiffness along with autonomic dysfunctions like hyperhidrosis and/or tachycardia. Here we report a young male who developed acquired neuromyotonia following COVID-19 vaccination. Background A 20-year-old male presented in our clinic with gradually progressive pain and numbness in bilateral lower limbs, tremors in both hands, shivering while walking, excessive sweating and difficulty in micturition for last 15 days. He also noticed twitching of muscles in calf and thigh muscles along with these symptoms. According to patient, these symptoms started after he took his first dose of COVID-19 vaccination (Covishield- Oxford-AstraZeneca viral vector vaccine) 10 days back. There was no history of fever or backache. He had no chronic illness and was not on any medications. Examination revealed hyperhidrosis, mild proximal muscle weakness in both lower limbs with twitching in muscles suggestive of myokymia. There were quivering and rippling movements of intrinsic muscles of both hands resembling polyminimyoclonus. In view of the above findings, possibility of acquired neuromyotonia possibly following COVID-19 vaccination was kept and further evaluation was done. Design/Methods Routine blood investigations, thyroid function test, anti-thyroid peroxidase antibodies and anti-nuclear antibodies were normal. Cerebrospinal fluid analysis was normal. Anti-VGKC antibodies were detected in serum with strongly positive anti-CASPR and weakly positive anti-LGI1 antibodies confirming diagnosis of acquired neuromyotonia. Results Pulse dose of intravenous methylprednisolone for 5 days was given which resulted in visible improvement in pain, twitching, hyperhidrosis and urinary symptoms. He was continued on oral steroids and complete resolution of his symptoms was noted over a period of 2 months. Conclusions COVID-19 vector vaccine associated acquired neuromyotonia is a rare condition, but its early recognition and treatment is the key for a favorable prognosis.

West-Nil-Virus-Infektion bei 12 Pferden in Mitteldeutschland

The presenting complaints, clinical signs, diagnostic evaluation, therapy, and outcome of 12 horses with clinically apparent West-Nile-Virus (WNV) infection are described. Case series RESULTS: The adult horses (age 6-18 years, 7 mares, 5 geldings) from Saxony and Saxony-Anhalt were presented with various clinical histories between September 2018 and September 2020. All horses were presented in August or September and no horse was vaccinated against WNV. Fever as the most common general clinical sign was present in 8/12 horses. The most common neurological signs were muscle fasciculations (11/12 horses), ataxia (8/12 horses), hyperesthesia and head tilt (6/12 horses each). Diagnosis of WNV infection was confirmed by demonstrating IgM antibody and neutralizing antibody production in all horses; 2 euthanized horses also tested positive by PCR. Therapy was symptomatic and primarily included non-steroidal anti-inflammatories or dexamethasone as well as fluid therapy. Duration of hospitalization was 7.5 days on average. According to their owners, seven horses recovered completely, while information was missing for 2 horses. In eastern-central Germany, WNV-encephalomyelitis must be considered a differential diagnosis for unvaccinated horses with acute neurologic disease occurring in summer and late summer. The reported clinical signs and the outcome of therapy are mostly congruent with reports from North America and other European countries.

Intranasal butorphanol and midazolam administered prior to intramuscular alfaxalone provides safe and effective sedation in Quaker parrots (Myiopsitta monachus).

To evaluate 2 doses of alfaxalone on cardiopulmonary parameters, temperature, sedation, endotracheal intubation, the incidence of muscle tremors, and radiographic positioning in Quaker parrots previously administered intranasal midazolam and butorphanol. 10 healthy adult Quaker parrots (male = 5; female = 5). A randomized, masked, crossover study was conducted where birds received midazolam (2 mg/kg) and butorphanol (2 mg/kg) intranasally 15 minutes prior to a low- or high-dose of intramuscular alfaxalone: 2 mg/kg (LDA) or 5 mg/kg (HDA), respectively. Heart (HR) and respiratory rate (RR), cloacal temperature, sedation quality, and ability to position for radiographs were recorded over time. The incidence of muscle tremors and the ability to intubate were recorded. Data were compared to baseline values and between treatments where appropriate. Significance was set at P < .05. There were no significant differences in HR, RR, cloacal temperature, and sedation scores between treatments at any time point. Duration of time from midazolam-butorphanol administration to complete recovery from treatment administration was significantly shorter for LDA when compared to HDA (90 [60 to 195] vs 127.5 [90 to 10] minutes, respectively). Compared to baseline, sedation scores were significantly higher from T = 15 to 60 for LDA and from T = 15 to 75 for HDA. The incidence of muscle tremors was greater in HDA (9/10) than in LDA (7/10). All birds were successfully intubated and positioned for radiographs. The combination of intranasal midazolam-butorphanol and intramuscular alfaxalone at the doses examined was a safe and effective method for sedating Quaker parrots. LDA produced adequate sedation with a shorter time to recovery and with fewer muscle fasciculations when compared to HDA.

Thick filament activation is different in fast- and slow-twitch skeletal muscle.

The contractile properties of fast-twitch and slow-twitch skeletal muscles are primarily determined by the myosin isoform content and modulated by a variety of sarcomere proteins. X-ray diffraction studies of regulatory mechanisms in muscle contraction have focused predominately on fast- or mixed-fibre muscle with slow muscle being much less studied. Here, we used time-resolved X-ray diffraction to investigate the dynamic behaviour of the myofilament proteins in relatively pure slow-twitch-fibre rat soleus (SOL) and pure fast-twitch-fibre rat extensor digitorum longus (EDL) muscle during twitch and tetanic contractions at optimal length. During twitch contractions the diffraction signatures indicating a transition in the myosin heads from ordered OFF states, where heads are held close to the thick filament backbone, to disordered ON states, where heads are free to bind to thin filaments, were found in EDL and not in SOL muscle. During tetanic contraction, changes in the disposition of myosin heads as active tension develops is a quasi-stepwise process in EDL muscle whereas in SOL muscle this relationship appears to be linear. The observed reduced extensibility of the thick filaments in SOL muscle as compared to EDL muscles indicates a molecular basis for this behaviour. These data indicate that for the EDL, thick filament activation is a cooperative strain-induced mechano-sensing mechanism, whereas for the SOL, thick filament activation has a more graded response. These different approaches to thick filament regulation in fast- and slow-twitch muscles may be adaptations for short-duration, strong contractions versus sustained, finely controlled contractions, respectively. KEY POINTS: Fast-twitch muscle and slow-twitch muscle are optimized for strong, short-duration contractions and for tonic postural activity, respectively. Structural events (OFF to ON transitions) in the myosin-containing thick filaments in fast muscle help determine the timing and strength of contractions, but these have not been studied in slow-twitch muscle. The X-ray diffraction signatures of structural OFF to ON transitions are different in fast extensor digitorum longus (EDL) and slow soleus (SOL) muscle, being completely absent during twitches in soleus muscle and blunted during tetanic contractions SOL as compared to EDL Quasi-stepwise thick filament structural OFF to ON transitions in fast twitch muscle may be an adaptation for rapid, ballistic movements, whereas more graded OFF to ON structural transitions in slow-twitch muscle may be an adaptation for slower, finer motions.

Etiological factors of facial nerve stimulation in cochlear implant users

Cochlear implantation is a high-tech method of rehabilitation of persons with complete deafness. However, cochlear implantation in patients may be accompanied by a number of difficulties due to the peculiarities of the structure of the cochlea, the relative position of anatomical structures relative to it and the nature of the acquired pathology of the inner ear. The reaction of the facial nerve during stimulation of one of the electrodes of the cochlear implant system is a common complication that can lead to a deterioration in the patient’s quality of life due to significant discomfort and restrictions on the use of the cochlear implant system. The debut of twitching of facial muscles in patients after cochlear implantation can occur both at the stage of connecting the speech processor and at the stages of further rehabilitation, which according to world literature can reach an interval of 10 years from the moment of surgery. Anatomical features of the cochlea, its interposition with the facial nerve, changes in the bone labyrinth, further progression of remodeling or ossification of the cochlea play a significant role in the development of symptoms of facial nerve stimulation in patients with sensorineural hearing loss of the IV degree, including at the stage of subsequent settings of the speech processor. The frequency of occurrence of this complication in various literature sources varies from 1 to 14.9 %. The purpose of this work is to review the world literature on the etiology of facial nerve stimulation in users of cochlear implants, highlighting the main theories of the origin of non-auditory sensations in this category of patients, since the data conducted in various studies are variable, and with a certain etiology reaches 38 %.

Epidemiology and Clinical Manifestation of West Nile Virus Infections of Equines in Hungary, 2007-2020.

West Nile virus (WNV) is an emerging pathogen in Hungary, causing severe outbreaks in equines and humans since 2007. The aim of our study was to provide a comprehensive report on the clinical signs of West Nile neuroinvasive disease (WNND) in horses in Hungary. Clinical details of 124 confirmed equine WNND cases were collected between 2007 and 2019. Data about the seasonal and geographical presentation, demographic data, clinical signs, treatment protocols, and disease progression were evaluated. Starting from an initial case originating from the area of possible virus introduction by migratory birds, the whole country became endemic with WNV over the subsequent 12 years. The transmission season did not expand significantly during the data collection period, but vaccination protocols should be always reviewed according to the recent observations. There was not any considerable relationship between the occurrence of WNND and age, breed, or gender. Ataxia was by far the most common neurologic sign related to the disease, but weakness, behavioral changes, and muscle fasciculation appeared frequently. Apart from recumbency combined with inappetence, no other clinical sign or treatment regime correlated with survival. The survival rate showed a moderate increase throughout the years, possibly due to the increased awareness of practitioners.

Fasciculation electromechanical latency is prolonged in amyotrophic lateral sclerosis

ObjectiveIn amyotrophic lateral sclerosis (ALS), motor neurons become hyperexcitable and spontaneously discharge electrical impulses causing fasciculations. These can be detected by two noninvasive methods: high-density surface electromyography (HDSEMG) and muscle ultrasonography (MUS). We combined these methods simultaneously to explore the electromechanical properties of fasciculations, seeking a novel biomarker of disease. MethodsTwelve ALS patients and thirteen healthy participants each provided up to 24 minutes of recordings from the right biceps brachii (BB) and gastrocnemius medialis (GM). Two automated algorithms (Surface Potential Quantification Engine and a Gaussian mixture model) were applied to HDSEMG and MUS data to identify correlated electromechanical fasciculation events. ResultsWe identified 4,197 correlated electromechanical fasciculation events. HDSEMG reliably detected electromechanical events up to 30 mm below the skin surface with an inverse correlation between amplitude and depth in ALS muscles. Compared to Healthy-GM muscles (mean = 79.8 ms), electromechanical latency was prolonged in ALS-GM (mean = 108.8 ms; p = 0.0458) and ALS-BB (mean = 112.0 ms; p = 0.0128) muscles. Electromechanical latency did not correlate with disease duration, symptom burden, sum muscle power score or fasciculation frequency. ConclusionsProlonged fasciculation electromechanical latency indicates impairment of the excitation–contraction coupling mechanism, warranting further exploration as a potential novel biomarker of disease in ALS. SignificanceThis study points to an electromechanical defect within the muscles of ALS patients.

Slow twitch paraspinal muscle dysregulation in adolescent idiopathic scoliosis exhibiting HIF-2α misexpression.

Adolescent idiopathic scoliosis (AIS) refers to a three-dimensional spinal deformity which has a typical onset during adolescence. In most cases, the cause of the deformity cannot be clearly identified. Unbalanced paraspinal muscle activity in AIS patients was reported and hypoxia was implicated to regulate myogenesis. This study aims to investigate the association between myogenesis/muscle toning and HIF-αs activity in the pathogenesis of AIS. HIF-αs expression was examined by enzyme-linked immunosorbent assay and western blot in paraspinal myoblasts isolated from 18 subjects who underwent deformity correction surgery. QPCR was conducted to measure the gene expression levels of perinatal muscle fiber markers MYH3, MYH8; slow twitch muscle fiber markers MHY7; fast twitch muscle fiber markers MYH4; and myogenic regulatory factors MYF5 and MYOG. Slow and fast twitch muscle fiber composition in concave/convex paraspinal musculature of AIS subjects was evaluated by immunostaining of myosin heavy chain type I (MyHC I) and myosin heavy chain type II (MyHC II). Reduced HIF-2α induction under hypoxia was found in paraspinal myoblast culture of 33% AIS subjects. We detected a suppression of perinatal and slow twitch muscle fiber associated genes, but not fast twitch muscle fiber-associated genes and myogenic regulatory factors in HIF-2α misexpressed AIS myoblasts. Distinct reduction of slow twitch muscle fiber was evidenced in convex paraspinal musculature, suggesting an asymmetric expression of slow twitch muscle fiber in HIF-2α misexpressed AIS patients. This study indicates an association of abnormal HIF-2α expression in paraspinal myoblasts and a disproportionate slow twitch muscle fiber content in the convexity of the curvature in a subset of AIS subjects, suggesting HIF-2α dysregulation as a possible risk factor for AIS. The role of HIF-2α in paraspinal muscle function during spinal growth and its relevance in AIS prognosis warrants further investigation.

Motor Neuron Involvement in RFC1 CANVAS/Spectrum Disorders

Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is characterized by the triad of cerebellar ataxia, bilateral vestibular impairment, and sensory neuropathy. The responsible anatomical region for the sensory disturbance in CANVAS is reportedly the dorsal root ganglion, which suggests neuronopathy rather than neuropathy as the pathomechanism of this peripheral nervous system disorder. Early on, motor neuron involvement was considered rare in CANVAS. The etiology of CANVAS includes the homozygous pentanucleotide repeat expansion within the RFC1 gene, resulting in diverse phenotypes and motor deficits such as brisk reflex, extensor plantar responses, or spasticity of the upper motor neurons and muscle wasting, weakness, cramp, or fasciculation of the lower motor neurons. CANVAS patients with AAGGG repeat expansions may show motor neuron involvement, with considerable variation in the reported frequencies. In contrast, although some patients with ACAGG repeat expansions also show motor neuron involvement, its frequency remains elusive.

ODP347 Rare case of intrasellar hemangiomas associated with growth hormone and gonadotropin deficiency

Abstract Background Cavernous sinus hemangiomas are rare extra-cerebral vascular lesions and account for 2-3% of all benign lesions in the cavernous sinus. They have a tendency to extend into the intrasellar and suprasellar area but in very rare cases hemangiomas can arise from the sellar region and can be misdiagnosed as pituitary adenoma. Pituitary hormone deficiencies associated with intrasellar hemangiomas has only been reported in 3 cases in the literature. We present a unique case of intrasellar hemangiomas associated with growth hormone and gonadotropin deficiency. Case presentation 71 year old female with history of primary hypothyroidism and breast cancer, presented with syncopal episode, preceded by facial muscle twitching and followed by urinary incontinence and was hospitalized for seizure evaluation. MRI of brain with and without contrast showed 3.7×2.5×2.6 cm sellar and right parasellar mass occupying the sella turcica, abutting and displacing the internal carotid arteries and causing superior displacement of the optic chiasm. Pituitary axis evaluation: TSH, Free T4, cortisol, ACTH and Prolactin levels within normal range. FSH and LH were low for a post-menopausal woman (1.11 mIU/mL, &amp;lt;0.20 mIU/mL respectively), with undetectable IGF-1 &amp;lt;10ng/mL) and growth hormone &amp;lt;0.1ng/mL. Due to proximity of mass to the carotid artery, patient underwent subtotal mass resection by Endonasal Endoscopic Approach with uneventful post-operative course. Surgical pathology was consistent with Hemangioma. Patient was referred to radiation-neuro-oncology for CyberKnife stereotactic radiation therapy. Discussion Cavernous hemangiomas are benign and vascular lesions found in the CNS, within the intra and extra cerebral parenchyma, with incidence rate of 0.5% in the general population. Extra-cerebral hemangiomas are mostly located in the middle cranial fossa with tendency to extend into the cavernous sinus and sellar region. They are less common, have heterogenous clinical presentations, and are more difficult to remove compared to intra-cerebral hemangiomas. Moreover, extra-cerebral hemangiomas have a strong female predominance, attributed to estrogen influence. We reviewed 23 case reports and 8 case series of cavernous sinus/sellar hemangiomas. This included a total of 161 patients, 116(72%) of whom were females. In very rare cases, extra-cerebral hemangiomas arise from intrasellar region and are misdiagnosed as pituitary adenoma. Few cases of intrasellar hemangiomas reported with and without parasellar involvement, presented with headache, vision changes, facial numbness/pain, extraocular muscle palsy and rarely seizures like our patient. Pituitary hormone deficiency was reported in only 3 patients with intrasellar hemangiomas, two with central hypothyroidism and one with central hypothyroidism/hypercortisolism but none associated with growth hormone deficiency and Hypogonadotropic hypogonadism. While radiosurgery alone has shown to reduce tumor size, the most common current approach is surgical resection followed by stereotactic radiosurgery. Presentation: No date and time listed

تأثيرات الكادميوم في السمّية الحادة لمبيدات حشرية مثبطة لنشاط إنزيم الكولين إستيريز في الفئران

الملخص تهدف هذه الدراسة إلى إجراء فحص السمّية الحادة في ذكور الفئران لكل من الكادميوم ونماذج من المبيدات الحشرية الفسفورية العضوية والكارباميتية المثبطة لإنزيم الكولين إستيريز، وتداخلها مع الكادميوم في مستويات الجُرع المميتة الوسطية خلال 24 ساعة (الجم-50 LD50)، وتحليل الآيزوبولوغرام (Isobologram Analysis)، ومؤشر التداخل السمّي (Toxicity Index). بلغت الجم-50 للكادميوم في الفئران 8.6 ملغم/كغم (mg/kg) من وزن الجسم بالحقن في الخلب، وأظهرت الفئران المعاملة بالكادميوم علامات التمطّي مع صعوبة الحركة والمشي. وبلغت الجم-50 لكل من المبيدات الحشرية الفسفورية العضوية دايكلورفوس وديازينون وكوموفوس وكلوربايريفوس عن طريق التجريع الفموي "التزقيم" (Gavage) 81.6 و157.6 و192.4 و437.1 ملغم/كغم من وزن الجسم، على التوالي، في حين بلغت الجم-50 لمبيدَي الكارباميت كارباريل وميثوميل عن طريق الفم 940.2 و177.5 ملغم/كغم من وزن الجسم، على التوالي. وأظهرت الفئران المتسممة بهذه المبيدات علامات الإلعاب والتدمع وانتصاب الشعر والذيل والتمدد على أرضية القفص والتحزم العضلي (Muscle Fasciculation) والرجفة والاختلاج العصبي وصعوبة التنفس، ومن ثم الموت خلال 24 ساعة من التجريع. وعند حقن الكادميوم في الخلب قبل المبيدات الحشرية بنصف ساعة، انخفضت قيم الجم-50 (زيادة السمّية) لكل من الكادميوم (51.4 - 74%) والمبيدات الحشرية (48.3 - 86.8%) مقارنة بقيمها بعد إعطائها لوحدها في الفئران. وقد بيّن تحليل الآيزوبولوغرام للتداخل السمّي بين الكادميوم والمبيدات الحشرية أن نوع التداخل كان تآزريًا (Synergistic)، ودلّ مؤشر التداخل بين الكادميوم والمبيدات الحشرية جميعها على أن التداخل كان تآزريًا أيضًا لكون قيمه أقل من واحد. وتشير هذه النتائج إلى احتمالية حصول تداخل سمّي بين الكادميوم مع المبيدات الحشرية الفسفورية العضوية والكارباميتية، إذْ سبّب إعطاء هذه المركبات في الفئران بجرع سامة وحادة تداخلًا سمّيًا حادًا من النوع التآزري الذي تم الكشف عنه وفق تجارب الجرع المميتة الوسطية وتحليل الآيزوبولوغرام ومؤشر التداخل السمّي.

Mosquito-borne diseases, their impacts and mosquito vector control methods - A review

Vector borne diseases are increasing nowadays and can spread to new locations easily. Diseases like zika virus fever, West Nile fever, malaria, yellow fever, Japanese encephalitis, dengue, etc. are examples of mosquito-borne diseases. These diseases are majorly caused by three species of mosquitoes Anopheles, Aedes, and Culex. Most mosquito vector control methods depend upon outdoor spraying, impregnated nets, or indoor residual spraying of chemical insecticides and it was observed that many mosquito species evolved resistance to major pesticide classes. The disadvantages of using chemical pesticides are the development of resistance in mosquitoes and also the harm it causes to other non-target organisms, in addition to the higher cost, more labor, and other drawbacks. Using DEET is also not as preferable as it can induce muscle twitching, seizures, slurred speech, nausea, and rashes. DEET will not give long-term protection against all malaria-causing mosquito species, such as Anopheles. Whereas biocontrol agents used for mosquito control show no environmental pollution or resistance. Bacillus thuringiensis israelensis and Bacillus sphaericus biopesticides tend to remain longer in the environment, particularly in dirty water, and hence may be a viable choice for long-term mosquito control. They have the least adverse effect on living things like humans, domestic animals, and wildlife.