Study of eating behavior of workers with different occupational psycho-emotional factors

Психоемоционалните рискове на работното място повлияват хранителните навици на работещите. Здравните ефекти на нездравословния начин на труд, свързани с наднормено тегло, затлъстяване и сърдечно-съдови усложнения са опосредствани от нарушения в навиците за здравословен начин на хранене. Проведено е срезово проучване на хранителния режим и условията на труд с акцент върху психо-емоционалното напрежение сред лица в трудоспособна възраст от Североизточна България. Анкетирани са 502 работещи на възраст от 19 до 80 години. Средната възраст на участниците е 39±0,5 години. Разделени са в три групи според нивата на самооценката за психо-емоционално напрежение на работното място. Режим на хранене с две и по-малко хранения показват 68 или 63% от лицата, работещи при умствен труд с непостоянна програма, спрямо 111 или 47,4% от работещите при постоянна и ясна програма. (Хи квадрат 7,142 при р<0,01 и корелационен коефициент r -0.145 при р<0,01). Нездравословно хранещите се лица, които поемат риск на работното място, са 28 или 70%, спрямо 151 или 50% от тези, освободени от такъв риск на работа. (Хи квадрат 5,664 при р <0,05 и корелационен коефициент r -0.129 при р <0,05).Двукратно е храненето на 19 или 27,1% от работещите при хипострес, 62 или 31,2% от лицата в еустрес и 66 или 34,7% от тези с хиперстрес на работното място. Подобни са тенденциите и при хранещите се основно на вечеря.В заключение стресът на работното място оказва влияние върху режима на хранене.Групата на изследваните лица, работещите в условия на психо-емоционално напрежение не се хранят според препоръките за здравословно хранене. За промоция на здравето на работното място, службите по трудова медицина следва да мониторират хранителните навици и адекватно да съветват и обучават работещите при интензивно психо-емоционално напрежение за здравословно хранително поведение.Psycho-emotional risks at work affect the eating behavior among workers. The health effects of unhealthy work related to overweight, obesity and cardiovascular complications are mediated by disturbances in healthy eating habits. A cross-sectional diet and work study was conducted focusing on the psycho-emotional tension among working-age people from northeastern Bulgaria. Five hundred and two people aged 19 to 80 were interviewed. The average age of participants was 39 ± 0.5 years. They were divided into three groups according to the levels of self-assessment for psycho-emotional stress at the workplace. A regimen consisting of two meals or less was observed in 68 or 63% of the people involved in mental work with a non-permanent schedule, compared to 111 or 47.4% of those working with a permanent and clear schedule (Chi square 7,142 at p <0.01 and correlation coefficient r -0.145 at p <0.01). Workers with unhealthy behavior who take a risk in the workplace were 28 or 70%, compared to 151 or 50% of those who had no such risk at work. (Chi square 5,664 at p <0.05 and correlation coefficient r -0.129 at p <0.05).Twice daily is the feeding of 19 or 27.1% of those with hypostress, 62 or 31.2% of those in eustres and 66 or 34.7% of those with hyperstress in the workplace. Similar are the tendencies for those who eat mainly at dinner

Adherence to disease-modifying therapies among patients with multiple sclerosis in Bulgaria – A real world study

Introduction: The purpose was to assess the level of medication adherence (MA) and related factors among individuals with multiple sclerosis (MS) in Bulgaria. Materials and methods: A prospective one-year study was conducted among 54 patients with MS diagnosed, treated, and monitored in Clinic of Neurology, University Hospital “Alexandrovska”, Sofia in 2022/2023. Clinical data, patients reported outcomes, patients’ characteristics such as age, gender and reduced work capacity, and other data were collected to define the predictors of non-adherence to medicines. MA level was assessed through a free Morisky–Green 4-item questionnaire. Results: Мost of the observed patients were rated with high and moderate adherence to MS therapy (n = 44; 81.48%). The remaining 18.52% of the patients with poor adherence to therapy were women. There was no statistical basis for asserting differences in adherence levels among the various factors considered. Conclusion: The current study demonstrates the importance of MA assessment and provides insights into MA among patients with MS in Bulgaria. Still, there are low-adherent patients, and the responsible factors should be further investigated

Caffeine consumption among workers exposed to noise and vibration

Introduction: There are controversies regarding the benefits and the risk of caffeine consumption. The ability of caffeine beverages to increase systolic blood pressure levels for several hours after consumption has been proven. Their health effects are associated with the richness of phytonutrients such as caffeine, chlorogenic and caffeine acids, and hydroxyhydogycinone.Aim: The aim of this article is to investigate the consumption of coffee among workers in noise and vibration.Materials and Methods: A cross-sectional study of coffee consumption and working conditions was conducted with emphasis on exposure to noise and vibrations among people of working age from Northeastern Bulgaria.Results: A total of 502 respondents were interviewed between the age of 19 and 80. The average age of participants was 39 ± 0.5 years. A structured proprietary questionnaire was also developed, including questions about: coffee intake and working conditions. The results found regular coffee consumption in 82.5% of workers at high noise levels and in 82.1% of workers exposed to local vibrations. Non-consuming caffeinated beverages are only 9.4% of the people working in noisy environments and 12.8% of vibro-exposed ones.Conclusion: Careful attention should be given to the safety of coffee use as a boosting drink in the workplace when there is exposure to noise and vibration with regard to the possibility of combined unilateral adverse effects on bone density and peripheral nerve damage. The comprehensive approach to assessing the health effects of coffee consumption necessarily involves taking risk factors into account in terms of working conditions and lifestyle

Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children

Investigation of 31 of Roma patients with congenital lactic acidosis (CLA) from Bulgaria identified homozygosity for the R446* mutation in the PDHX gene as the most common cause of the disorder in this ethnic group. It accounted for around 60% of patients in the study and over 25% of all CLA cases referred to the National Genetic Laboratory in Bulgaria. The detection of a homozygous patient from Hungary and carriers among population controls from Romania and Slovakia suggests a wide spread of the mutation in the European Roma population. The clinical phenotype of the twenty R446* homozygotes was relatively homogeneous, with lactic acidosis crisis in the first days or months of life as the most common initial presentation (15/20 patients) and delayed psychomotor development and/or seizures in infancy as the leading manifestations in a smaller group (5/20 patients). The subsequent clinical picture was dominated by impaired physical growth and a very consistent pattern of static cerebral palsy-like encephalopathy with spasticity and severe to profound mental retardation seen in over 80% of cases. Most patients had a positive family history. We propose testing for the R446* mutation in PDHX as a rapid first screening in Roma infants with metabolic acidosis. It will facilitate and accelerate diagnosis in a large proportion of cases, allow early rehabilitation to alleviate the chronic clinical course, and prevent further affected births in high-risk families

Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)

Hereditary spastic paraplegias are heterogeneous neurodegenerative disorders characterized by progressive spasticity of the lower limbs due to degeneration of the corticospinal motor neurons. In a Bulgarian family with three siblings affected by complicated hereditary spastic paraplegia, we performed whole exome sequencing and homozygosity mapping and identified a homozygous p.Thr512Ile (c.1535C>T) mutation in ATP13A2. Molecular defects in this gene have been causally associated with Kufor-Rakeb syndrome (#606693), an autosomal recessive form of juvenile-onset parkinsonism, and neuronal ceroid lipofuscinosis (#606693), a neurodegenerative disorder characterized by the intracellular accumulation of autofluorescent lipopigments. Further analysis of 795 index cases with hereditary spastic paraplegia and related disorders revealed two additional families carrying truncating biallelic mutations in ATP13A2. ATP13A2 is a lysosomal P5-type transport ATPase, the activity of which critically depends on catalytic autophosphorylation. Our biochemical and immunocytochemical experiments in COS-1 and HeLa cells and patient-derived fibroblasts demonstrated that the hereditary spastic paraplegia-associated mutations, similarly to the ones causing Kufor-Rakeb syndrome and neuronal ceroid lipofuscinosis, cause loss of ATP13A2 function due to transcript or protein instability and abnormal intracellular localization of the mutant proteins, ultimately impairing the lysosomal and mitochondrial function. Moreover, we provide the first biochemical evidence that disease-causing mutations can affect the catalytic autophosphorylation activity of ATP13A2. Our study adds complicated hereditary spastic paraplegia (SPG78) to the clinical continuum of ATP13A2-associated neurological disorders, which are commonly hallmarked by lysosomal and mitochondrial dysfunction. The disease presentation in our patients with hereditary spastic paraplegia was dominated by an adult-onset lower-limb predominant spastic paraparesis. Cognitive impairment was present in most of the cases and ranged from very mild deficits to advanced dementia with frontotemporal characteristics. Nerve conduction studies revealed involvement of the peripheral motor and sensory nerves. Only one of five patients with hereditary spastic paraplegia showed clinical indication of extrapyramidal involvement in the form of subtle bradykinesia and slight resting tremor. Neuroimaging cranial investigations revealed pronounced vermian and hemispheric cerebellar atrophy. Notably, reduced striatal dopamine was apparent in the brain of one of the patients, who had no clinical signs or symptoms of extrapyramidal involvement

Case Report: Transthyretin Glu54Leu—a rare mutation with predominant cardiac phenotype

We report two unrelated Bulgarian families with hereditary transthyretin (ATTR) amyloidosis due to a rare p.Glu74Leu (Glu54Leu) pathogenic variant found in seven individuals—three of them symptomatic. Only one family with the same variant and with a Swedish origin has been clinically described so far. Our patients are characterized by predominant cardiac involvement, very much similar to the Swedish patients. Although the initial complaint was bilateral carpal tunnel syndrome, advanced amyloid cardiomyopathy was found in two symptomatic carriers at diagnosis with heart failure manifestations. The neurological involvement was considered as mild, with mainly sensory signs and symptoms being present. We followed a non-biopsy algorithm to confirm the diagnosis. Tafamidis 61 mg has been initiated as the only approved disease modifying treatment for ATTR cardiomyopathy. Clinical stability in the absence of adverse events has been observed at follow up

The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.

Analyzing the type and frequency of patient-specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial planning, and improved clinical care. Locus-specific databases allow for the collection, organization, storage, and analysis of genetic variants of disease. Here, we describe the development and analysis of the TREAT-NMD DMD Global database (http://umd.be/TREAT_DMD/). We analyzed genetic data for 7,149 DMD mutations held within the database. A total of 5,682 large mutations were observed (80% of total mutations), of which 4,894 (86%) were deletions (1 exon or larger) and 784 (14%) were duplications (1 exon or larger). There were 1,445 small mutations (smaller than 1 exon, 20% of all mutations), of which 358 (25%) were small deletions and 132 (9%) small insertions and 199 (14%) affected the splice sites. Point mutations totalled 756 (52% of small mutations) with 726 (50%) nonsense mutations and 30 (2%) missense mutations. Finally, 22 (0.3%) mid-intronic mutations were observed. In addition, mutations were identified within the database that would potentially benefit from novel genetic therapies for DMD including stop codon read-through therapies (10% of total mutations) and exon skipping therapy (80% of deletions and 55% of total mutations)

Натриеви каналопатии

Човешката субединица – NaV1.4, влизаща в структурата на натриевия канал, е кодирана от SCN4A гена, разположен в хромозома 17q23. В зависимост от типа на възникналите мутации в SCN4A гена, може да се наблюдава патологично повишена или намалена мускулна възбудимост. Свръхвъзбудимостта се представя клинично като мускулна скованост, наречена миотония, която е резултат от силна мускулна контракция. Миотоничната скованост обикновено е най-изразена при първите движения след покой и намалява с последващата мускулна активност (феномен на загряване). В някои случаи миотоничната скованост може парадоксално да се влоши с повтарящи се мускулни усилия. В този случай е налице парамиотония. Намалената възбудимост на скелетните мускули, произтичаща от NaV1.4 дефекти, клинично се представя с преходни пристъпи на слабост или хронично състояние на постоянна мускулна слабост. Най-честата проява е периодична парализа с повтарящи се епизоди на умерена до тежка мускулна слабост

Миопатия на Bethlem

Миопатия на Bethlem представлява бавно прогресиращо, фенотимно хетерогенно заболяване, дължащo се на мутации в трите известни колаген VI гени – COL6A1, COL6A2 и COL6A3. Заболяването се характеризира с наличие на неонатална хипотония, артрогрипоза, вродена дисплазия на тазобедрена става и тортиколис. Отличителен белег е наличието на флексионни контрактури на лактите, китките, глезени и интерфалангеалните стави на последните четири пръста. Често могат да бъдат срещнати кожни патологии като хипертрофични белези или фоликуларна хиперкератоза

Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies

Hereditary spinal muscular atrophy is a motor neuron disorder characterized by muscle weakness and atrophy due to degeneration of the anterior horn cells of the spinal cord. Initially, the disease was considered purely as an autosomal recessive condition caused by loss-of-function SMN1 mutations on 5q13. Recent developments in next generation sequencing technologies, however, have unveiled a growing number of clinical conditions designated as non-5q forms of spinal muscular atrophy. At present, 16 different genes and one unresolved locus are associated with proximal non-5q forms, having high phenotypic variability and diverse inheritance patterns. This review provides an overview of the current knowledge regarding the phenotypes, causative genes, and disease mechanisms associated with proximal SMN1-negative spinal muscular atrophies. We describe the molecular and cellular functions enriched among causative genes, and discuss the challenges in the post-genomics era of spinal muscular atrophy research