Here we demonstrate biallelic mutations in sorbitol dehydrogenase (SORD) as the most frequent recessive form of hereditary neuropathies. We identified 45 cases from 38 families across multiple ethnicities, carrying a particular nonsense mutation in SORD, c.753delG; p.Ala253GlnfsTer27, either in homozygous or compound heterozygous state with a second variant. With an allele frequency of 0.004 in healthy controls, the p.Ala253GlnfsTer27 variant represents one of the most common pathogenic alleles in humans. SORD is an enzyme that converts sorbitol into fructose, in the two-step polyol pathway that has been implicated in diabetic neuropathy. In patient-derived fibroblasts, we find a complete loss of SORD protein as well as increased intracellular sorbitol. Also, serum fasting sorbitol level was over 100 times higher in patients homozygous for the p.Ala253GlnfsTer27 mutation compared to healthy individuals. In Drosophila, we show that loss of SORD orthologues causes synaptic degeneration and progressive motor impairment. Reducing the polyol influx by treatment with aldose reductase inhibitors normalized intracellular sorbitol levels in patient fibroblasts and in Drosophila, and also dramatically ameliorated motor and eye phenotypes. Together, these findings establish a potentially treatable cause in a significant fraction of patients with inherited neuropathies and may contribute to a better understanding of the pathophysiology of diabetic neuropathy.

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A total of 437 patients with epilepsy were identified, 30.7% of whom (n=134/437) were uncontrolled, with a prevalence of 2.1/1000. A total of 52.2% of uncontrolled patients (n=70/134) were inappropriately treated, while 47.8% (n=64/134) were compliant with appropriate treatments. Video monitoring EEG of compliant uncontrolled patients demonstrated that 78.1% patients (n=50/64) had definite epilepsy, while 21.9% (n=14/64) had psychogenic non-epileptic seizures (PNES). A logistic regression analysis revealed that status epilepticus, focal seizures, and mixed seizure types were risk factors for intractability.

Mucormycosis is a life-threatening opportunistic angioinvasive fungal infection. We aimed to describe the frequency, presentations, predictors, and in-hospital outcome of mucormycosis patients in the scope of CoronaVirusDisease-19 (COVID-19) during the third viral pandemic wave. This cross-sectional retrospective study included all patients who fulfilled the criteria of mucormycosis with concurrent confirmed covid19 infection admitted to Assuit University Hospital between March 2021 and July 2021. Overall, 433 patients with definite covid-19 infection, of which 33 (7.63%) participants were infected with mucormycosis. Mucormycosis was predominantly seen in males (21 vs. 12; p = 0.01). Diabetes mellitus (35% vs. 63.6%; p < 0.001), hypertension (2% vs.45.5%; p 0.04), and Smoking (26.5% vs. 54.5%; p < 0.001) were all significantly higher in mucormycosis patients. Inflammatory markers, especially E.S.R., were significantly higher in those with mucormycosis (p < 0.001). The dose of steroid intake was significantly higher among patients with mucormycosis (160 mg vs. 40 mg; p < 0.001). Except for only three patients alive by residual infection, 30 patients died. The majority (62%) of patients without mucormycosis were alive. Male sex; Steroid misuse; D.M.; Sustained inflammation; Severe infection were significant risk factors for mucormycosis by univariate analysis; however, D.M.; smoking and raised E.S.R. were predictors for attaining mucormycosis by multivariate analysis.

Background Mild mitral stenosis (MS) is a progressive disease but unfortunately, its clinical course is still unclearly studied. We aimed to study the left atrial (LA) deformation in such patients and how it is related to exercise intolerance. Methods Seventy‐five patients with mitral valve area of 1.81 ± 0.13 cm2 and 40 healthy control subjects were enrolled. All participants had sinus rhythm, and they underwent conventional echocardiography and LA strain analysis with speckle‐tracking study. The following parameters were obtained: left atrial reservoir strain (LAS‐s), LA conduit strain (LAS‐e), and LA contraction strain (LAS‐a). All participants underwent symptoms limited stress ECG using modified Bruce protocol. Results Comparing with control subjects, patients with mild MS had significant lower LAS‐s value (P < .01) and LAS‐e (<0.03). Patients with exercise intolerance (METs < 8) had lower LAS‐s (P < .001), LAS‐e (P < .01), and LAS‐a (P < .05) values compared to those with METs ≥ 8. We found that METs was significantly related to LAS‐s (P < .001), brain natriuretic peptide (P < .001), and Δ TAPSE (P < .03). Multivariate analysis showed that LAS‐s was an independent predictor of reduced exercise capacity. With ROC analysis, LAS‐s ≤ 26.5% was the optimal value for prediction of exercise intolerance in patients with mild MS. Conclusion A significant percentage of patients with mild mitral stenosis had exercise intolerance. We found that LAS‐s was significantly associated with exercise capacity in patients with mild MS. Hence, we thought that LA deformation could be of great value in the follow‐up of patients with mild MS.

Background: Movement disorders are common neurological problems, but epidemiological studies are lacking in our locality. Type of movement disorder depends on the site of the lesion and the type of pathologic changes. Objective: To estimate the prevalence rate of dystonia, chorea, and athetosis, in Al Quseir City (Red Sea Governorate), Egypt.Methods: This study is a part of a door to door survey of major neurological disorders that was conducted in Al Quseir City, Red Sea Governorate, Egypt, on a sample size of 33,285 subjects. They were screened through 3 neurologists and 15 social workers. Then, each of the three staff members of neurology subjected positive cases to meticulous clinical evaluation separately. Results: Thirteen cases with dystonia, 7 cases with chorea and 5 cases with athetosis were found with prevalence rates of 39/100,000, 21/100,000, and 15/100,000 respectively. Conclusion: Prevalence rates of dystonia, chorea, and athetosis in Al Quseir City are higher than those of the worldwide. This may be attributed to some specific environmental factors of this locality.

Wireless Sensor Networks (WSNs) became essential in developing many applications, including smart cities and Internet of Things (IoT) applications. WSN has been used in many critical applications such as healthcare, military, and transportation. Such applications depend mainly on the performance of the deployed sensor nodes. Therefore, the deployment process has to be perfectly arranged. However, the deployment process for a WSN is challenging due to many of the constraints to be taken into consideration. For instance, mobile nodes are already utilized in many applications, and their localization needs to be considered during the deployment process. Besides, heterogeneous nodes are employed in many recent applications due to their efficiency and cost-effectiveness. Moreover, the development areas might have different properties due to their importance. Those parameters increase the deployment complexity and make it hard to reach the best deployment scheme. This work, therefore, seeks to discover the best deployment plan for a WSN, considering these limitations throughout the deployment process. First, the deployment problem is defined as an optimization problem and mathematically formulated using Integer Linear Programming (ILP) to understand the problem better. The main objective function is to maximize the coverage of a given field with a network lifetime constraint. Nodes’ mobility and heterogeneity are added to the deployment constraints. The importance of the monitored field subareas is also introduced in this paper, where some subareas could have more importance than others. The paper utilizes Swarm Intelligence as a heuristic algorithm for the large-scale deployment problem. Simulation experiments show that the proposed algorithm produces efficient deployment schemes with a high coverage rate and minimum energy consumption compared to some recent algorithms. The proposed algorithm shows more than a 30% improvement in coverage and network lifetime.

This paper presents a new trend in biometric security systems, which is cancelable multi-biometrics. In general, traditional biometric systems depend on a single biometric for identification. These traditional systems are subject to different types of attacks. In addition, a biometric signature may be lost in hacking scenarios; for example, in the case of intrusion, biometric signatures can be stolen forever. To reduce the risk of losing biometric signatures, the trend of cancelable biometrics has evolved by using either deformed or encrypted versions of biometrics for verification. In this paper, several biometric traits for the same person are treated to obtain a single cancelable template. First, optical scanning holography (OSH) is applied during the acquisition of each biometric. The resulting outputs are then compressed simultaneously to generate a unified template based on the energy compaction property of the discrete cosine transform (DCT). Hence, the OSH is used in the proposed approach as a tool to generate deformed versions of human biometrics in order to get the unified biometric template through DCT compression. With this approach, we guarantee the possibility of using multiple biometrics of the same user to increase security, as well as privacy of the new biometric template through utilization of the OSH. Simulation results prove the robustness of the proposed cancelable multi-biometric approach in noisy environments.