Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) – A Polish family with novel SACS mutations

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare hereditary ataxia, characterized by the triad of early-onset cerebellar ataxia, peripheral sensorimotor neuropathy and lower limb spasticity. Although ARSACS is increasingly reported worldwide, we present the first Polish family with a comprehensive clinical and neuropsychological assessment, harboring two novel mutations in the SACS gene. Our results demonstrate the variability in cognitive and behavioral profiles in ARSACS, which is in line with other heredodegenerative ataxias. One should be aware of ARSACS in cases of autosomally recessive inherited ataxias without common mutations

Rapid serological tests for SARS-CoV-2 IgG/IgM – not worth attention?

ObjectivesCoronavirus disease 2019 (COVID-19) caused by severe acute respiratory syndrome virus 2 (SARS-CoV-2) had spread worldwide since December 2019 and became a pandemic in March 2020. The diagnosis of an active infection is based on the real-time reverse transcriptase-polymerase chain reaction (RT-PCR) from the nasopharyngeal swab specimen. The aim of the current analysis was to assess the usefulness of the rapid serological tests for diagnosing SARS-CoV-2 infections.Material and MethodsThe rapid serological tests detecting IgG/IgM antibodies for SARS-CoV-2 were voluntarily performed in asymptomatic employees of 2 companies. The examination was conducted at the date and time selected online by the study participants. The testing team consisted of 2 nurses collecting the samples and 1 doctor who interpreted the results. Each positive rapid test result was verified by an RT-PCR examination from a nasopharyngeal swab. The testing kits named Vazyme: 2019-nCoV IgG/IgM Detection Kit (Colloidal Gold-Based) were provided by the employer along with the manual and certificates.ResultsThe overall interest in testing among employees was below the employer’s expectations and reached 30% and 20% in each of the 2 companies, respectively. A total of 516 participants were included in the analysis. Ten positive results of the rapid tests were documented, including 7 for IgM and 3 for IgG antibodies. No positive result was confirmed by the detection of the genetic material of the SARS-CoV-2 by the RT-PCR examination.ConclusionsHerein, the authors demonstrated the uselessness of rapid serological tests performed in asymptomatic volunteers for diagnosing SARS-CoV-2 infections

Differential Expression of AP-2 Transcription Factors Family in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma—A Bioinformatics Study

Members of the activator protein 2 (AP-2) transcription factor (TF) family are known to play a role in both physiological processes and cancer development. The family comprises five DNA-binding proteins encoded by the TFAP2A to TFAP2E genes. Numerous scientific reports describe differential expression of these TF and their genes in various types of cancer, identifying among them a potential oncogene or suppressor like TFAP2A or TFAP2C. Other reports suggest their influence on disease development and progression, as well as response to treatment. Not all members of this AP-2 family have been comprehensively studied thus far. The aim of the present article is to gather and discuss knowledge available in bioinformatics databases regarding all five members of this family and to differentiate them in relation to the two most common lung cancer subtypes: adenocarcinoma (LUAD) and squamous cell carcinoma (LUSC). In addition, to assess the difference in levels depending on a number of clinicopathological factors, the impact on patient survival and interactions with tumor-infiltrating immune cells. This article may help to identify the target for further original research that may contribute to the discovery of new diagnostic biomarkers and define the molecular differences between LUAD and LUSC, which may affect the therapy effectiveness improvement and longer survival

Pangenotypic and Genotype-Specific Antivirals in the Treatment of HCV Genotype 4 Infected Patients with HCV Monoinfection and HIV/HCV Coinfection

The introduction of the direct-acting antivirals (DAA) has substantially improved the effectiveness of the therapy in patients with chronic hepatitis C. We aimed to compare the efficacy of pangenotypic and genotype-specific DAA in the cohort of genotype (GT) four patients with HCV monoinfection and HIV coinfection. A total of 662 GT4-infected patients treated in 2015–2020—of whom 168 (25.3%) were coinfected with HIV, selected from the retrospective EpiTer-2 database—were enrolled in the analysis. Among HIV-coinfected patients, 54% (90) were treated with genotype-specific regimens and 46% (78) with pangenotypic options, while among HCV-monoinfected patients, the rates were 72% and 28%, respectively. Significantly higher rate of males (67.9% vs. 57.7%, p = 0.01), a lower rate of liver cirrhosis (10.2% vs. 18.1%, p = 0.02), and higher of treatment-naïve patients (87.5% vs. 76.7%, p = 0.003) were documented in the HIV coinfected population. The overall sustained virologic response after exclusion of non-virologic failures was achieved in 98% with no significant difference between HIV-positive and HIV-negative patients, 96.2% vs. 98.5%, respectively. While the genotype-specific regimens resulted in a similar cure rate regardless of the HIV status, the pangenotypic options were more efficacious in patients with HCV monoinfection (99.3% vs. 94.4%, p = 0.05). Hereby, we demonstrated the high effectiveness and good safety profile of the DAA therapy in the population of HCV GT4 infected patients with HIV coinfection supporting the current recommendations to treat HCV/HIV coinfected patients with the same options as those with HCV monoinfection