Mucopolysaccharidoses (MPSs) are known as rare genetic diseases which are caused by mutation in the enzyme heparin sulfate, which normally leads to degradation and accumulation of glycosaminoglycans in the cells. There are 11 types of MPSs, whereby neuropathy may occur in seven of them (MPS I, II, IIIA, IIIB, IIIC, IIID and VII). Accumulation of degraded heparin sulfate in lysosomes causes cellular dysfunction and malfunction of several organs. However, the exact molecular mechanism how protein degradation and storage leads to cellular dysfunction is not understood, yet. Nonetheless, several genetic and biochemical methods for diagnosis of MPSs are available nowadays. Here we provide an overview on known molecular basis of MPS in general, including enzyme defects and symptoms of MPS; however, the main focus is on MPS type III together with potential and perspective therapy-options.

BACKGROUND: Posttraumatic stress disorder (PTSD) is heritable and a potential consequence of exposure to traumatic stress. Evidence suggests that a quantitative approach to PTSD phenotype measurement and incorporation of lifetime trauma exposure (LTE) information could enhance the discovery power of PTSD genome-wide association studies (GWASs). METHODS: A GWAS on PTSD symptoms was performed in 51 cohorts followed by a fixed-effects meta-analysis (N = 182,199 European ancestry participants). A GWAS of LTE burden was performed in the UK Biobank cohort (N = 132,988). Genetic correlations were evaluated with linkage disequilibrium score regression. Multivariate analysis was performed using Multi-Trait Analysis of GWAS. Functional mapping and annotation of leading loci was performed with FUMA. Replication was evaluated using the Million Veteran Program GWAS of PTSD total symptoms. RESULTS: GWASs of PTSD symptoms and LTE burden identified 5 and 6 independent genome-wide significant loci, respectively. There was a 72% genetic correlation between PTSD and LTE. PTSD and LTE showed largely similar patterns of genetic correlation with other traits, albeit with some distinctions. Adjusting PTSD for LTE reduced PTSD heritability by 31%. Multivariate analysis of PTSD and LTE increased the effective sample size of the PTSD GWAS by 20% and identified 4 additional loci. Four of these 9 PTSD loci were independently replicated in the Million Veteran Program. CONCLUSIONS: Through using a quantitative trait measure of PTSD, we identified novel risk loci not previously identified using prior case-control analyses. PTSD and LTE have a high genetic overlap that can be leveraged to increase discovery power through multivariate methods.

Face masks help to limit transmission of infectious diseases entering through the nose and mouth. Beyond reprocessing and decontamination, antimicrobial treatments could extend the lifetime of face masks whilst also further reducing the chance of disease transmission. Here, we review the efficacy of treatments pertaining antimicrobial properties to medical face masks, filtering facepiece respirators and non-medical face masks. Searching databases identified 2113 studies after de-duplication. A total of 17 relevant studies were included in the qualitative synthesis. Risk of bias was found to be moderate or low in all cases. Sixteen articles demonstrated success in avoiding proliferation (if not elimination) of viruses and/or bacteria. In terms of methodology, no two articles employed identical approaches to efficacy testing. Our findings highlight that antimicrobial treatment is a promising route to extending the life and improving the safety of face masks. In order to reach significant achievements, shared and precise methodology and reporting is needed.

Metabolizam visokomliječnih krava, obzirom na njihovu genetsku predispoziciju za visoku proizvodnju mlijeka s jedne i reproduktivnih zahtjeva s druge strane, često je opterećen te izložen promjenama koje za posljedicu mogu imati poremećaj funkcionalnog stanja pojedinih organa, a najčešće jetre i genitalnih organa. Fiziološke vrijednosti biokemijskih parametara krvi krava, koje nude različiti izvori, često znaju znatno varirati. U tom smislu, osobito su interesantni parametri metaboličkog profila u muznih krava, koji imaju višestruko značenje: od pokazatelja hranidbenog statusa i uvjeta držanja životinja do pokazatelja kliničkih bolesti. Cilj je ovog rada bio ustvrditi koncentraciju nekih biokemijskih parametara u krvnoj plazmi krava holštajn-frizijske pasmine tijekom perioda zasušenja. Ispitivanja koncentracije pojedinih sastojaka u krvnoj plazmi radi određivanja metaboličkog profila krava važna su, ne samo za postavljanje objektivne dijagnoze i određivanje težine poremećaja u životinja s izraženim simptomima, već i u prevenciji i rasvjetljavanju mehanizama nastanka novih, metaboličkih i drugih bolesti. Istraživanjem je obuhvaćeno ukupno 46 krava u zasušenju holštajn-frizijske pasmine iz dva farmska uzgoja. Istraženo je 20 krava s farme „A“ i 26 krava s farme „B“. U krvnoj plazmi su spektrofotometrijski određivane vrijednosti parametara koncentracija: glukoze, ukupnih proteina, albumina, kolesterola, triglicerida, bilirubina i ureje. Na temelju rezultata našeg istraživanja, zaključili smo da su krvni parametri koje smo pratili adekvatni za praćenje funkcionalnog stanja jetre i metabolizma u krava, a koji mogu biti od koristi i u procjeni očekivane dužine servis perioda.

The mesiodens is the most frequent type of supernumerary tooth which can appear in the maxillary midline area. The etiology of mesiodentes is not fully understood. This report shows a case of incomplete fusion of an unerupted mesiodens with a permanent maxillary central incisor, aligned in the dental arch. Intraoral and radiographic examinations indicated fusion of the crown and cervical part of the root of the supernumerary tooth with the permanent incisor. The clinical situation was further complicated by the presence of another supernumerary tooth located palatally. The treatment approach has included two phase surgical therapy to extract the supernumerary teeth. Early diagnosis and appropriate surgical treatment of mesiodentes are important to decrease the risk of clinical complications. Pre-operative 3D imaging is strongly advisable since it allows accurate data to be obtained, and reduces the extent of surgery and the possibility of procedural complications. In most cases, a multidisciplinary collaboration is necessary for precise diagnosis and predictable treatment outcome.

Research show that the vibrations of the strings and the radiated sound of the solid body electric guitar depend on the vibrational behavior of its structure in addition to the extended electronic chain. In this regard, most studies focused on the vibro-mechanical properties of the neck of the electric guitar and neglected the coupling of the vibrating strings with the neck and the solid body of the instrument. Therefore, the aim of the study was to understand how the material properties of the solid body could affect the stiffness and vibration damping of the whole instrument when comparing ash (Fraxinus excelsior L.) and walnut (Juglans regia L.) wood. In the electric guitar with identical components, higher modal frequencies were confirmed in the structure of the instrument when the solid body was made of the stiffer ash wood. The use of ash wood for the solid body of the instrument due to coupling effect resulted in a beneficial reduction in the vibration damping of the neck of the guitar. The positive effect of the low damping of the solid body of the electric guitar made of ash wood was also confirmed in the vibration of the open strings. In the specific case of free-free vibration mode, the decay time was longer for higher harmonics of the E2, A2 and D3 strings.

Abstract This paper seeks to empirically explore how an international financial integration influences a country’s GDP growth. The long run relationship is tested by PMG estimator for the sample of ten EU countries from Central, Eastern and Southeastern Europe (CEE-10 countries) between 1995 and 2017. Prior to the conducting of dynamic panel analysis based on PMG estimators, several panel unit root tests were conducted, as well as panel co integration tests. The findings offer mixed impact financial integration on growth. Among the measures of financial integration, growth of the CEE-10 countries is mostly driven in the long run by FDI inflows as well as remittances and financial openness. On the contrary, the study suggests a reversal relationship between growth and financial integration measured by Gross Foreign Assets and Liabilities in percentages of GDP. It might be explained with a fact that CEE-10 countries have not yet reached a certain level of financial development in order to benefit from financial integration. The study concludes that international financial integration does not per se enhance economic growth and country’s growth in the CEE-10 countries can be reached at a higher level of financial integration, further increase their financial openness and financial development.

With everyday advances in the field of pharmaceuticals, medicinal plants have high priority regarding the introduction of novel synthetic compounds by the usage of environmentally friendly extraction technologies. Herein, a supercritical CO2 extraction method was implemented in the analysis of four plants (chamomile, St. John’s wort, yarrow, and curry plant) after which the non-targeted analysis of the chemical composition, phenolic content, and antioxidant activity was evaluated. The extraction yield was the highest for the chamomile (5%), while moderate yields were obtained for the other three plants. The chemical composition analyzed by gas chromatography-high-resolution mass spectrometry (GC-HRMS) and liquid chromatography-high-resolution mass spectrometry (LC-HRMS) demonstrated extraction of diverse compounds including terpenes and terpenoids, fatty acids, flavonoids and coumarins, functionalized phytosterols, and polyphenols. Voltammetry of microfilm immobilized on a glassy carbon electrode using square-wave voltammetry (SWV) was applied in the analysis of extracts. It was found that antioxidant activity obtained by SWV correlates well to 1,1-diphenyl-2-picrylhidrazine (DPPH) radical assay (R2 = 0.818) and ferric reducing antioxidant power (FRAP) assay (R2 = 0.640), but not to the total phenolic content (R2 = 0.092). Effective results were obtained in terms of activity showing the potential usage of supercritical CO2 extraction to acquire bioactive compounds of interest.

BACKGROUND To determine the effect of lockdown measures on lung transplant patients during the COVID-19 pandemic. SUBJECTS AND METHODS We collected data from Croatian lung transplant patients before and after the lockdown and analyzed changes in weight, BMI, lung function and blood lipid status. RESULTS An average increase of 3.74 kg (+4.92%) body weight during the 4 month lockdown period was observed. Lung function values and blood lipid status remained stable. CONCLUSION Such weight gain could have detrimental effects on the morbidity and mortality of lung transplant patients. Further follow up is needed to determine the long term impacts of this observation.