Attacks Of Paralysis Research Articles

Quantitative Muscle MRI to Monitor Disease Progression in Hypokalemic Period Paralysis.

Primary hypokalemic periodic paralysis (HypoPP) is a muscle channelopathy that can cause periodic paralysis and permanent weakness. Currently, little is known about how progressive this myopathy is. Natural history data for HypoPP can potentially answer the question of progressiveness and form the basis for outcome measures to be used in follow-up and emerging treatment trials. We aimed to describe the natural history of HypoPP and assess whether quantitative fat imaging is a valuable biomarker to monitor disease progression. In this prospective follow-up study, we examined disease progression using Dixon MRI to monitor changes in fat replacement of the muscle and stationary dynamometry to monitor changes in muscle strength. We included 37 persons (mean age 43 years, range 18-79 years) with HypoPP-causing variants in CACNA1S. Three participants were asymptomatic carriers, 22 had periodic paralysis, 3 had permanent weakness, and 9 had periodic paralysis in combination with permanent weakness. The median follow-up time was 20 months (range 12-25). We found that fat fraction increased in 10 of 21 examined muscles. An increase in the composite fat fraction of at least 1 muscle group was found in all symptomatic phenotypes. By contrast, we found no significant change in muscle strength. The results from this follow-up study support the use of quantitative muscle MRI to monitor subclinical disease progression in HypoPP in patients with and without attacks of paralysis.

Analysis of Physiological Signals to Detect the Symptoms of Paralysis Disorder using Neural Network Approach: a Cohort Study

As per World Medical Associations, Paralysis attack is one of the leading causes of disorder in the human subjects after other chronic disorders such as Cancer and Heart Attack. Due to the attack of Paralysis, the body parts of human body become un responsive due to which the person may be physically disabled from hands or legs-based locomotion. There is scarcity in the methodologies who can early indicate the symptoms and alert the medical practitioners or human subject under surveillance. In this study, the health-related signals were studied and as per consultation of medical experts, total eight key parameters were identified and then based on that the output decision that weather person has symptoms of paralysis or not. The observatory data base has been prepared from more than 40,000 human subjects for the duration January 2018 to December 2023. As per categorical analysis based on training, validation and testing of three-layer Recurrent Neural Network, it has been observed that the ECG, Blood pressure, Heart Rate and PPG signals are key indicators to judge the susceptance of Paralysis disorder in the human subjects. Based on the evaluation parameters of machine learning models, the conjunction of response in association with selected input parameters gives 94% accuracy than other models. Our study helps research community to develop such methodologies by which the early indication of such disorders can be helpful to human health.

Familial Hypokalemic Periodic Paralysis Attack Following SARS‑Cov‑2 Infection: A Case Report

Familial hypokalemic periodic paralysis is a rare disorder that manifests manifests with the sudden onset of flaccid paralysis that is triggered by low levels of blood potassium, which can be caused by various factors such as, rest after intense exercise, or high-carbohydrate foods. This report presents cases of hypokalemic periodic paralysis attack triggered by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. A 29-year-old male patient was admitted with quadriparesis, fever, shortness of breath, and sever hypokalemia. The patient had a history of three episodes of Familial hypokalemic periodic paralysis (HPP). Diagnostic tests, such as chest computed tomography scan and polymerase chain reaction test, confirmed SARS-CoV-2 infection. The patient was treated with potassium chloride infusion, spironolactone, and remdesivir, and was eventually discharged from the hospital.in conclusion, SARS-CoV-2 infection can potentially exacerbate HPP and should be considered a risk factor for its occurrence.

Quality of life in hypokalemic periodic paralysis - a survey

Primary hypokalemic periodic paralysis (HypoPP) is a skeletal muscle channelopathy most commonly caused by pathogenic variants in the calcium channel gene, CACNA1S. HypoPP can present with attacks of paralysis and/or permanent muscle weakness. Previous studies have shown that patients with HypoPP can have impaired quality of life (QoL). In this cross-sectional study, we aimed to describe the QoL in patients with HypoPP caused by pathogenic variants in CACNA1S using The Individualized Neuromuscular Quality of Life (INQoL) questionnaire, a validated tool to measure the QoL of patients with neuromuscular diseases (higher score, worse QoL). We showed that muscle weakness and fatigue were the symptoms with the greatest impact on participants' lives and that “activities”, in the life domain of the INQoL, was most affected by HypoPP. Furthermore, we showed that the total INQoL score increased with age. Low QoL was primarily driven by progressive permanent muscle weakness and not attacks of paralysis, although half of the participants reported that attacks of paralysis challenged their daily life. The results suggest that special attention should be given to muscle weakness and fatigue in patients with HypoPP.

A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia.

The nondystrophic myotonias are rare muscle hyperexcitability disorders caused by gain-of-function mutations in the SCN4A gene or loss-of-function mutations in the CLCN1 gene. Clinically, they are characterized by myotonia, defined as delayed muscle relaxation after voluntary contraction, which leads to symptoms of muscle stiffness, pain, fatigue, and weakness. Diagnosis is based on history and examination findings, the presence of electrical myotonia on electromyography, and genetic confirmation. Next-generation sequencing including the CLCN1 and SCN4A genes was performed in patients with clinical neuromuscular disorders. Electromyography, Short Exercise Test, in vivo and in vitro electrophysiology, site-directed mutagenesis and heterologous expression were collected. A heterozygous point mutation (c.1775C > T, p.Thr592Ile) of muscle voltage-gated sodium channel α subunit gene (SCN4A) has been identified in five female patients over three generations, in a family with non-dystrophic myotonia. The muscle stiffness and myotonia involve mainly the face and hands, but also affect walking and running, appearing early after birth and presenting a clear cold sensitivity. Very hot temperatures, menstruation and pregnancy also exacerbate the symptoms; muscle pain and a warm-up phenomenon are variable features. Neither paralytic attacks nor post-exercise weakness has been reported. Muscle hypertrophy with cramp-like pain and increased stiffness developed during pregnancy. The symptoms were controlled with both mexiletine and acetazolamide. The Short Exercise Test after muscle cooling revealed two different patterns, with moderate absolute changes of compound muscle action potential amplitude. The p.Thr592Ile mutation in the SCN4A gene identified in this Sardinian family was responsible of clinical phenotype of myotonia.

Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients

BackgroundPrimary periodic paralysis (PPP) is an inherited disorders of ion channel dysfunction characterized by recurrent episodes of flaccid muscle weakness, which can classified as hypokalemic (HypoPP), normokalemic (NormoPP), or hyperkalemic (HyperPP) according to the potassium level during the paralytic attacks. However, PPP is charactered by remarkable clinical and genetic heterogeneity, and the diagnosis of suspected patients is based on the characteristic clinical presentation then confirmed by genetic testing. At present, there are only limited cohort studies on PPP in the Chinese population.ResultsWe included 37 patients with a clinical diagnosis of PPP. Eleven (29.7%) patients were tested using a specific gene panel and 26 (70.3%) by the whole-exome sequencing (WES). Twenty-two cases had a genetic variant identified, representing a diagnostic rate of 59.5% (22/37). All the identified mutations were either in the SCN4A or the CACNA1S gene. The overall detection rate was comparable between the panel (54.5%: 6/11) and WES (61.5%: 16/26). The remaining patients unresolved through panel sequencing were further analyzed by WES, without the detection of any mutation. The novel atypical splicing variant c.2020-5G > A affects the normal splicing of the SCN4A mRNA, which was confirmed by minigene splicing assay. Among 21 patients with HypoPP, 15 patients were classified as HypoPP-2 with SCN4A variants, and 6 HypoPP-1 patients had CACNA1S variants.ConclusionsOur results suggest that SCN4A alleles are the main cause in our cohort, with the remainder caused by CACNA1S alleles, which are the predominant cause in Europe and the United States. Additionally, this study identified 3 novel SCN4A and 2 novel CACNA1S variants, broadening the mutation spectrum of genes associated with PPP.

Thyrotoxic Periodic Paralysis after Surgery: A Case Report and Literature Review

Thyrotoxic periodic paralysis (TPP) is a rare but potentially life-threatening muscle disease in a thyrotoxic patient. Due to the lack of knowledge, the diagnosis is easily missed. Diagnosis of TPP is made by documentation of hypokalemia and hyperthyroidism in acute generalized muscle weakness. Hypokalemia is caused by an intracellular shift of potassium because of an increased Na-K-ATPase pump activity and the inhibition of the inward rectifying potassium (Kir) channels. The initial treatment aims to treat potentially life-threatening cardiac arrhythmias caused by severe hypokalemia. This can be done with potassium substitution and nonselective beta-blockers, being aware of the potential of rebound hyperkaliemia. Definitive treatment consists of avoiding triggers and correcting the hyperthyroid state with antithyroid drugs, radioactive iodine, or thyroidectomy. Once patients are, permanently euthyroid complete remission of the paralytic attacks usually occurs. We present a case of a 37-year-old male with diffuse muscle weakness after surgery. A new diagnosis of thyrotoxic periodic paralysis was made in the emergency department. This review summarizes the epidemiology, clinical manifestations, pathogenesis, diagnostics, and treatment of TPP.

Hypokalemic periodic paralysis: a 3-year follow-up study

Background and objectivesPrimary hypokalemic periodic paralysis (HypoPP) is an inherited channelopathy most commonly caused by mutations in CACNA1S. HypoPP can present with different phenotypes: periodic paralysis (PP), permanent muscle weakness (PW), and mixed weakness (MW) with both periodic and permanent weakness. Little is known about the natural history of HypoPP.MethodsIn this 3-year follow-up study, we used the MRC scale for manual muscle strength testing and whole-body muscle MRI (Mercuri score) to assess disease progression in individuals with HypoPP-causing mutations in CACNA1S.ResultsWe included 25 men (mean age 43 years, range 18–76 years) and 12 women (mean age 42 years, range 18–76 years). Two participants were asymptomatic, 21 had PP, 12 MW, and two PW. The median number of months between baseline and follow-up was 42 (range 26–52). Muscle strength declined in 11 patients during follow-up. Four of the patients with a decline in muscle strength had no attacks of paralysis during follow-up, and two of these patients had never had attacks of paralysis. Fat replacement of muscles increased in 27 patients during follow-up. Eight of the patients with increased fat replacement had no attacks of paralysis during follow-up, and two of these patients had never had attacks of paralysis.DiscussionThe study demonstrates that HypoPP can be a progressive myopathy in both patients with and without attacks of paralysis.

E-Assistant for Paralyzed Patients using Internet of Things

There are lots of hospitals and clinics that serve paralytic patients who have their entire or part of their body disabled by the Paralysis attack. In most of the cases, these people are not able to convey their needs as they are neither able to talk properly nor do they convey through sign language due to loss in the motor control by their brain. Many innovations are developed to improve the quality of life. So, the aim of our system is to develop a system or a device which is easy to use and should also be affordable to all kind of people. It should also consist of a person’s basic health care monitoring system. This paper presents the development of an E-Assistant device for paralytic patients, aimed at improving their quality of life by providing an affordable and easy-to-use system that can monitor basic health care and assist in communicating their needs. The device uses simple motions, such as finger movements or angle-based controls, to enable patients to display messages. This device can be designed in such a way to be mounted on the back of their hands and their fingers, or other voluntary organ. The device has the potential to significantly improve the lives of paralytic patients by addressing their communication and healthcare needs. In this way the E-assistant for Paralyzed Patients automates the care taking ability of the patient which makes sure a healthy and periodic attention to the patient and thus results in a good health of the patient.

An interesting case of thyrotoxic periodic paralysis

Hyperthyroidism rarely cause paralysis by redistributive hypokalemia, with periodic attacks of paralysis termed as thyrotoxic periodic paralysis (TPP). It is more commonly seen in the Asian or Hispanic populations, genetic variation in Kir2.6, a muscle specific thyroid hormone responsive potassium channel cause predisposition of TPP. It typically presents in the early morning with limb weakness. Hyperthyroidism signs and symptoms are need not to be present in all patients. TPP attacks can be triggered by factors such a high-carbohydrate diet, sternous activity, mental stress, and steroids. TPP should be suspected in young patients presenting with acute muscle weakness and severe hypokalemia. Arrhythmias can be noted but most of these will resolve with normalization of potassium.

Gene panel analysis of 119 index patients with suspected periodic paralysis in Japan.

Genetic factors are recognized as the major reason for patients with periodic paralysis. The goal of this study was to determine the genetic causes of periodic paralysis in Japan. We obtained a Japanese nationwide case series of 119 index patients (108 men and 11 women) clinically suspected of periodic paralysis, and a gene panel analysis, targeting CACNA1S, SCN4A, and KCNJ2 genes, was conducted. From 34 cases, 25 pathogenic/likely pathogenic/unknown significance variants were detected in CACNA1S (nine cases), SCN4A (19 cases), or KCNJ2 (six cases), generating a molecular diagnostic rate of 28.6%. In total, seven variants have yet been found linked to periodic paralysis previously. The diagnostic yield of patients with hypokalemic and hyperkalemic periodic paralyzes was 26.2 (17/65) and 32.7% (17/52), respectively. A considerably higher yield was procured from patients with than without positive family history (18/25 vs. 16/94), onset age ≤20 years (24/57 vs. 9/59), or recurrent paralytic attacks (31/94 vs. 3/25). The low molecular diagnostic rate and specific genetic proportion of the present study highlight the etiological complexity of patients with periodic paralysis in Japan.

Hyperkalemic periodic paralysis associated with a novel missense variant located in the inner pore of Nav1.4

BackgroundHyperkalemic periodic paralysis (HyperPP) is an autosomal dominantly inherited disease characterized by episodic paralytic attacks with hyperkalemia, and is caused by mutations of the SCN4A gene encoding the skeletal muscle type voltage-gated sodium channel Nav1.4. The pathological mechanism of HyperPP was suggested to be associated with gain-of-function changes for Nav1.4 gating, some of which are defects of slow inactivation. Case presentation & MethodsWe identified a HyperPP family consisting of the proband and his mother, who showed a novel heterozygous SCN4A variant, p.V792G, in an inner pore lesion of segment 6 in Domain II of Nav1.4. Clinical and neurophysiological evaluations were conducted for the proband and his mother. We explored the pathogenesis of the variant by whole-cell patch clamp technique using HEK293T cells expressing the mutant Nav1.4 channel. ResultsFunctional analysis of Nav1.4 with the V792G mutation revealed a hyperpolarized shift of voltage-dependent activation and fast inactivation. Moreover, steady-state slow inactivation in V792G was impaired with larger residual currents in comparison with wild-type Nav1.4. ConclusionV792G in SCN4A is a pathogenic variant associated with the HyperPP phenotype and the inner pore lesion of Nav1.4 plays a crucial role in slow inactivation.

Designing of automated paralysis patient healthcare system

We come across hospitals and non-profit organizations that care for people with paralysis who have had all or partof their body incapacitated by the paralysis attack. Due to a lack of motor control by their brain, these individualsare typically unable to communicate their requirements because they are neither able to speak clearly nor use signlanguage. In such a circumstance, we suggest a system that enables a disabled person to display a message overthe liquid crystal display (LCD) screen by merely moving any part of his or her body that is capable of motion. Thissolution also addresses the circumstance where the patient is alone and no one is available to care for him or her,sending an Internet of things (IoT) message instead of a short messaging service (SMS).The system operates by interpreting the user part’s tilt direction. By grasping the device in the fingers of the movinghand, the device’s operation is demonstrated. To communicate a message, the user only needs to tilt the gadgetat a specific angle. The message is conveyed differently depending on the way the gadget is tilted. Here, thestatistics of motion are measured using an accelerometer. This information is then transmitted to a microcontroller.The microcontroller analyzes the data and displays the specific message in accordance with the input received. Theassociated message is now shown on the LCD screen by the microcontroller. As soon as it receives a motion signalfrom the accelerometer, it also emits a siren and a message. If no one was available to respond to the message onthe LCD, then the patient might opt to tilt the device for an additional period of time, which would cause an SMSto be sent via IoT to the patient’s registered caretaker with the message the patient wishes to communicate.

A Robust Countermeasures for Poisoning Attacks on Deep Neural Networks of Computer Interaction Systems

In recent years, human–computer interactions have begun to apply deep neural networks (DNNs), known as deep learning, to make them work more friendly. Nowadays, adversarial example attacks, poisoning attacks, and backdoor attacks are the typical attack examples for DNNs. In this paper, we focus on poisoning attacks and analyze three poisoning attacks on DNNs. We develop a countermeasure for poisoning attacks, which is Data Washing, an algorithm based on a denoising autoencoder. It can effectively alleviate the damages inflicted upon datasets caused by poisoning attacks. Furthermore, we also propose the Integrated Detection Algorithm (IDA) to detect various types of attacks. In our experiments, for Paralysis Attacks, Data Washing represents a significant improvement (0.5384) over accuracy increment, and can help IDA detect those attacks, while for Target Attacks, Data Washing makes it so that the false positive rate is reduced to just 1% and IDA can have a high accuracy detection rate of greater than 99%.

A dangerous food binge: a case report of hypokalemic periodic paralysis and review of current literature

BackgroundHypokalemic periodic paralysis is a rare neuromuscular genetic disorder due to defect of ion channels and subsequent function impairment. It belongs to a periodic paralyses group including hyperkalemic periodic paralysis (HEKPP), hypokalemic periodic paralysis (HOKPP) and Andersen-Tawil syndrome (ATS). Clinical presentations are mostly characterized by episodes of flaccid generalized weakness with transient hypo- or hyperkalemia.Case presentationA teenage boy presented to Emergency Department (ED) for acute weakness and no story of neurological disease, during the anamnestic interview he revealed that he had a carbohydrates-rich meal the previous evening. Through a focused diagnostic work-up the most frequent and dangerous causes of paralysis were excluded, but low serum potassium concentration and positive family history for periodic paralyses raised the diagnostic suspicion of HOKPP. After the acute management in ED, he was admitted to Pediatric Department where a potassium integration was started and the patient was counselled about avoiding daily life triggers. He was discharged in few days. Unfortunately, he presented again because of a new paralytic attack due to a sugar-rich food binge the previous evening. Again, he was admitted and treated by potassium integration. This time he was strongly made aware of the risks he may face in case of poor adherence to therapy or behavioral rules.Currently, after 15 months, the boy is fine and no new flare-ups are reported.ConclusionHOKPP is a rare disease but symptoms can have a remarkable impact on patients’ quality of life and can interfere with employment and educational opportunities. The treatment aims to minimize the paralysis attacks by restoring normal potassium level in order to reduce muscle excitability but it seems clear that a strong education of the patient about identification and avoidance triggering factors is essential to guarantee a benign clinical course. In our work we discuss the typical clinical presentation of these patients focusing on the key points of the diagnosis and on the challenges of therapeutic management especially in adolescence. A brief discussion of the most recent knowledge regarding this clinical condition follows.

Real time Paralysis Patient Health MonitoringSystem using Wireless Communication

A survey of the Global Burden of Diseases (GBD) estimated that, approximately 5.8 million peoplelose their lives due to stroke. Stroke is the major cause of paralysis, which affects almost 33.7% of the population with paralysis. But there is no optimal tracking system to monitor the patient’s healthand daily needs. In this high-speed world, it is not possible to constantly take care of their near oneswho need their help. To overcome such difficulties paralyzed patient monitoring equipment is introduced. During the survey we come across many hospitals and NGOs serving paralytic patientswith their whole or partial body disabled by the Paralysis attack. Those people in most cases are notable to convey their needs as they can’t be able to speak properly nor can they convey through signlanguage due to loss in motion control in their brain. In this way the Automated Paralysis Patient Care System truly automates the care taking ability of the patient which ensures a timely attention to the patient and thus for a good health of the patient.

The long exercise test as a functional marker of periodic paralysis.

The aim of this study was to evaluate the sensitivity of the long exercise test (LET) in the diagnosis of periodic paralysis (PP) and assess correlations with clinical phenotypes and genotypes. From an unselected cohort of 335 patients who had an LET we analyzed 67 patients with genetic confirmation of PP and/or a positive LET. 32/45 patients with genetically confirmed PP had a significant decrement after exercise (sensitivity of 71%). Performing the short exercise test before the LET in the same hand confounded results in four patients. Sensitivity was highest in patients with frequent (daily or weekly) attacks (8/8, 100%), intermediate with up to monthly attacks (15/21, 71%) and lowest in those with rare attacks (9/16, 56%) (p=.035, Mann-Whitney U-test). Patients with a positive LET without confirmed PP mutation comprised those with typical PP phenotype and a group with atypical features. In our cohort, the LET is strongly correlated with the frequency of paralytic attacks suggesting a role as a functional marker. A negative test in the context of frequent attacks makes a diagnosis of PP unlikely but it does not rule out the condition in less severely affected patients.

Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes.

Familial periodic paralyses (PPs) are inherited disorders of skeletal muscle characterized by recurrent episodes of flaccid muscle weakness. PPs are classified as hypokalemic (HypoPP), normokalemic (NormoPP), or hyperkalemic (HyperPP) according to the potassium level during the paralytic attacks. HypoPP is an autosomal dominant disease caused by mutations in the CACNA1S gene, encoding for Cav1.1 channel (HypoPP-1), or SCN4A gene, encoding for Nav1.4 channel (HypoPP-2). In the present study, we included 60 patients with a clinical diagnosis of HypoPP. Fifty-one (85%) patients were tested using the direct sequencing (Sanger method) of all reported HypoPP mutations in CACNA1S and SCN4A genes; the remaining 9 (15%) patients were analyzed through a next-generation sequencing (NGS) panel, including the whole CACNA1S and SCN4A genes, plus other genes rarely associated to PPs. Fifty patients resulted mutated: 38 (76%) cases showed p.R528H and p.R1239G/H CACNA1S mutations and 12 (24%) displayed p.R669H, p.R672C/H, p.R1132G/Q, and p.R1135H SCN4A mutations. Forty-one mutated cases were identified among the 51 patients managed with Sanger sequencing, while all the 9 cases directly analyzed with the NGS panel showed mutations in the hotspot regions of SCN4A and CACNA1S. Ten out of the 51 patients unresolved through the Sanger sequencing were further analyzed with the NGS panel, without the detection of any mutation. Hence, our data suggest that in HypoPP patients, the extension of genetic analysis from the hotspot regions using the Sanger method to the NGS sequencing of the entire CACNA1S and SCN4A genes does not lead to the identification of new pathological mutations.

IoT based Paralyzed Patient Health and Body Movement Monitoring System

Healthcare systems are a very important part of the economy of any country and for the public health. The IoT-based monitoring system for patients with paralysis, which helps to promote the health condition of a patient with paralysis, in addition to the day-to-day life. India has suffered a stroke, the incidence is much higher than that of the more developed countries, it is home to around 2.1 million Indians suffered from the boom of the (lame) per year. If a patient is suffering from a paralysis attack in all or any part of the body can be turned off in order to move in, which means that their movement is restricted and they can barely communicate with anyone at all, because they can't talk like a normal person. Raccoons will find it difficult to understand what they are saying, and help them deal with their day-to-day needs, such as food, water, etc.). At present, work is in progress on the review of the motion parameters on the legs, arms, and head of the paralytics. This paper investigates the development of an integrated and portable prototype is a model of a system for the monitoring of the various movements of the body, spinal cord injuries, with the help of sensors. The tests were carried out by placing the sensors on the head, arm, and leg of the paralyzed patient the data received from these sensors are sent to the raspberry pi 3 model. In the Android app, you'll receive a verbal warning, and if the patient is in need of help via Bluetooth, which, in turn, is connected to the raspberry pi.

Marked Reduction in Paralytic Attacks in Patient With Andersen-Tawil Syndrome Switched From Acetazolamide to Dichlorphenamide: A Case Report (4309)

Marked Reduction in Paralytic Attacks in Patient With Andersen-Tawil Syndrome Switched From Acetazolamide to Dichlorphenamide: A Case Report (4309)