Spinal and bulbar muscular atrophy (SBMA) or Kennedy disease OMIM: 313200 is a rare X-linked neuromuscular disease. Patients commonly present with muscle cramps, tremors, leg weakness, dysarthria and ...dysphagia.
We deeply phenotyped and evaluated the possible extent of affected systems in all patients with SBMA in Latvia (
= 5). In addition, neurophysiological studies and blood analyses were used to perform a molecular diagnosis and evaluate biochemical values. We analyzed neurofilament light (NfL) as a possible biomarker.
Neurological examination revealed typical SBMA clinical manifestations; all patients had small or large nerve fiber neuropathy. Three of five patients had increased neurofilament light levels.
The study confirms the systemic involvement in patients suffering from SBMA. Increased NfL concentration was associated with either peripheral neuropathy or decreased body mass index. The complex phenotype of the disease should be kept in mind, as it could help to diagnose patients with SBMA.
X-linked Charcot-Marie-Tooth (CMT) disease type I (CMTX1) is the second most frequent type of CMT disease caused by pathogenic variants in the GJB1 gene. We described 2 extended cases (families) with ...CMTX1 with identified pathogenic variants – p.Val139Met and p.Arg215Trp. In both the families, neurological symptoms started earlier in male than in female patients. In some family members, molecular diagnostics was performed prior to neurological investigation due to family cascade screening. There was variable neurological phenotype representing CMT. Conclusions: There is a large clinical heterogeneity in CMTX, even amongst the family members.
Schools and municipalities play an important role in local health promotion. The Institute of Public Health at Rıga Stradiņš University in collaboration with the National Centre of Disease Prevention ...and Control carried out an online survey for studying the experiences and needs of health-promoting schools and municipalities in Latvia in implementing health promotion interventions. The aim of this study was to explore the context for developing new intervention model for a health behaviour change model within the Interreg BaltCityPrevention project “Innovative Lifestyle-Related Disease Prevention Model in the Baltic Sea Region.” Totally 112 municipalities and 100 schools within the National Health Promoting Networks were targeted. Only schools and municipalities that had previous experiences in health promotion intervention development were included in the analysis. This study showed that school-aged children were the most prevalent target group for the both schools and municipality interventions. The interventions in physical activity and nutrition used to be the most common areas for health behaviour changes. Health promotion schools and municipalities reported several significant differences in experienced difficulties and expected future needs in implementing health promotion interventions, which should be considered for increasing the capacity for better health promotion for both schools and municipalities in Latvia.
Background and purpose
Charcot‐Marie‐Tooth (CMT) disease is a chronic, slowly progressing disorder. The lack of specific disease progression biomarkers limits the execution of clinical trials. ...However, neurofilament light chain (NfL) has been suggested as a potential biomarker for peripheral nervous system disorders.
Methods
Ninety‐six CMT disease patients and 60 healthy controls were enrolled in the study. Disease severity assessment included clinical evaluation with CMT Neuropathy Score version 2 (CMTNSv2). Blood plasma NfL concentrations were measured using the single‐molecule array NfL assay.
Results
The NfL concentration was significantly higher in the CMT disease patient group than in the controls (p < 0.001). Of the CMT disease patients, those with type CMTX1 had a higher NfL level than those in the two other analysed subgroups (CMT1A and other CMT disease types) (p = 0.0498). The NfL concentration had a significant but weak correlation with the CMTNSv2 (rs = 0.25, p = 0.012). In one CMT disease patient with an extremely elevated NfL level, overlap with chronic inflammatory demyelinating polyneuropathy was suspected. Receiver operating characteristic analysis showed that an NfL concentration of 8.9 pg/ml could be used to discriminate CMT disease patients from controls, with an area under the curve of 0.881.
Conclusions
Our study confirmed that the plasma NfL concentration is significantly higher in CMT disease patients than in controls. Plasma NfL concentration was found to significantly, albeit weakly, reflect the clinical severity of CMT disease. In the future, NfL may be used, either individually or collaboratively, as a biomarker in the clinical context of suspected CMT disease; however, several issues need to be addressed first.
Neurofilament light chain (NfL) level in different study groups and correlation with age and disease severity.
Inherited peripheral neuropathies (IPN) are a clinically and genetically heterogeneous group of disorders. The most common IPN is Charcot-Marie-Tooth (CMT) disease. Here we describe IPN clinical ...variability and diagnostic characteristics in the Latvian population. A total of 101 patients were enrolled in the study. Genetic testing consisted of PMP22 copy number analysis and whole-exome sequencing (WES). Clinical assessment comprised CMT Neuropathy Score version 2 (CMTNSv2), CMT Examination Score, pain, anxiety and memory/cognitive ability testing. The diagnostic yields for PMP22 copy number detection and WES were 45.8% and 77.8%, respectively. Disease severity assessment indicated high clinical heterogeneity, with CMTNSv2 scores ranging between 0 and 33. More than one-third of patients reported pain, and it was found to be significantly more common in patients with at least a mild anxiety level. From the initial development of symptoms, on average, it took more than 13 years for a diagnosis of IPN to be confirmed. This study updates the IPN genetic and clinical profile of the Latvian population and demonstrates the presence of a high level of heterogeneity. The time to diagnosis for IPN patients needs to be improved by employing multiplex ligation-dependent probe amplification initially followed by WES.
This study aims to identify motivators and barriers regarding Coronavirus disease 2019 (COVID-19) vaccination among Latvian healthcare workers (HCWs). Data were collected from March to May 2021 using ...an online survey. Overall, 1,444 participants took part in the study. From this pool of respondents, 528 indicated motivating factors in favor of the COVID-19 vaccination (86.5% were women; aged between 20 and 75 years), while 198 mentioned barriers against the COVID-19 vaccination (92.9% were women; aged between 19 and 68 years). The thematic analysis was conducted on two open-ended questions. The main motivators reported for COVID-19 vaccination were belief in the effectiveness of the vaccine, benefits of easing COVID-19 restrictions, responsibility, and restriction or pressure in case of non-vaccination. The main barriers reported regarding the COVID-19 vaccination were concerns about the effectiveness and safety of vaccines, perceived health risks of vaccination, risk perception toward COVID-19, misinformation about COVID-19 vaccines, belief that vaccination is being imposed, and belief in the conspiracy theories surrounding COVID-19. The results of this study help identify the existing motivating and hindering factors for COVID-19 vaccination among HCWs in Latvia. These results can be used to promote vaccination in HCW, develop information campaigns, and alleviate concerns of HCW.
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