IntroductionHereditary sensory neuropathy (HSN) describes as a heterogeneous group of peripheral neuropathies. HSN type 1 (HSN1) is one subtype characterized by distal sensory impairment that occurs in the form of numbness, tingling, or pain. To date, only two variants in the atlastin GTPase 3 (ATL3) gene have been identified that result in hereditary sensory neuropathy type 1F (HSN1F) with autosomal dominantinheritance. MethodsWe sudied and examined who present with sensory disturbances and muscle weakness in their lower limb. Patients underwent Whole Exome Sequencing and Sanger sequencing was performed in families for validation of detected variant. ResultsHere, we identified two Iranian families carrying the novel heterozygous stop variant NM_015459.5: c.16C>T, p.Arg6Ter in ATL3 that led to disturbed pain and touch sensitivity. This variant in the ATL3 gene was detected in both families (NM_015459.5: c.16C>T, p.Arg6Ter) by whole‐exome sequencing and confirmed by Sanger sequencing. ConclusionIn this study, the subjects manifested weakness of distal limb muscles and numbness of the lower extremities. In addition, some unusual features, including hearing problems and inability to sit and walk presented in one of the patients. Eventually, we provide a case‐based review of the clinical features associated with HSN1F. Hitherto, only 11 patients with HSN1F have been reported. We compared our findings to previously reported cases, suggesting that the clinical features are generally variable in the HSN1F patients.
Context: Coronavirus disease 2019 (COVID-19) is a viral infectious disease caused by Severe Acute Respiratory Syndrome Coronavirus-2 (SARS CoV 2) that spread around the world rapidly and has become a pandemic and a major global concern. SARS CoV 2 is an enveloped virus with a positive-strand RNA genome that encodes structural and nonstructural viral proteins. Among the structural proteins, spike surface glycoprotein or S protein is necessary for the infection of host cells. Mutations in the S protein can cause dangerous variants of coronaviruses with higher transmission rates that are not easily detectable by routine diagnostic tests and are treatment resistant, leading to a more severe illness and a higher mortality rate. This review aimed to present a comprehensive evaluation of the latest studies on S protein mutations, coronavirus variants, and their relationship with the type, rate, and severity of the cardiovascular disease. Evidence Acquisition: Researchers search GISAID, PubMed/Medline, Google Scholar, Web of Science, Wiley Online Library, and Research Gate for the internationally valid investigation that includes original, reviews, letters or commentaries, or any other published data. Results: Since the outbreak of the COVID-19 pandemic disease, more than 30 mutations in the S protein. The mutations in the S protein increase the affinity and strength of its binding to the host cell receptor. Although the main host of the virus is the respiratory system, Cardiovascular damage, especially myocardial injury, has a significant share in patients with covid-19, which is of great importance due to the increase in the mortality rate. Conclusion: The mutations in the S protein increase the affinity and strength of its binding to the ACE2 receptor. Therefore, the signaling pathways associated with cardiovascular damage and inflammation are activated quickly, causing cardiovascular manifestation, severe forms of the disease, and death as a result of infection with concerning variants of SARS CoV 2.
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