HVM BIOFLUX Human & Veterinary Medicine International Journal of the Bioflux Society Diagnostic particularities in Wilson's disease as related to age, sex and clinical presentation

Abstract. Objective: Wilson's disease (WD) is a genetic, autosomal recessive disorder, which affects the liver, brain and cornea. The condition is rare and it has various presentations, hence its diagnosis is difficult. We aimed to study different clinical presentations, their relation with age and sex and the influence of several factors on the diagnostic score (Leipzig score). Material and Methods: We analyzed retrospectively the medical documents of 24 WD patients examined in 2 nd Pediatric Clinic and 5 th Medical Clinic of Cluj-Napoca, and we collected data concerning the diagnosis. The patients were classified phenotypically (Leipzig classification) and we calculated the Leipzig score. We studied the relation between diagnostic score, clinical phenotype, age at diagnosis and sex. Results: Our group consisted of 7 adults and 17 pediatric patients, F/M = 1/1.4. They were distributed, according to the phenotype, as follows: acute hepatic (H1) -3 (pediatric, all deceased); chronic hepatic (H2) -12 (2 adults, 10 pediatric); neurological and hepatic (N1) -6 (3 adults, 3 pediatric), neurological (N2) -3 (2 adults, 1 pediatric). The hepatic involvement was inversely correlated with age (p=0.02), which in turn was directly correlated with neurological manifestations (p=0.05). There were no significant differences concerning either distribution on phenotypes in relation with sex and age or between Leipzig score and age, sex, onset modality, presence and severity of hepatic involvement. Conclusion: The presence of hepatic manifestations at the moment of diagnosis of WD decreases with age, while neurological one increases. The distribution on phenotypes was not influenced by age or sex. There is no relation between diagnostic score and studied demographical and clinical factors. Key Words: Wilson's disease, Wilson's disease clinical phenotypes, Leipzig score. Rezumat. Obiectiv: Boala Wilson (BW) este o afecţiune genetică, autosomal recesivă, care afectează ficatul, creierul şi corneea. Fiind foarte rară şi variabilă ca prezentare clinică, diagnosticul ei este dificil. Ne-am propus să studiem diferitele modalităţi de prezentare clinică, relaţia lor cu vârsta şi sexul pacienţilor şi influenţa mai multor factori asupra scorului diagnostic (scorul Leipzig). Material si metodă: Am analizat retrospectiv documentele medicale ale 24 pacienţi cu BW consultaţi în Clinicile Pediatrie II şi, respectiv, Medicală V, din Cluj-Napoca, culegând o serie de date privind diagnosticul. Pacienţii au fost clasificaţi fenotipic (clasificarea Leipzig) şi am calculat scorul Leipzig. Am studiat relaţia între scorul diagnostic, fenotipurile clinice, vârsta la diagnostic şi sexul pacienţilor. Rezultate: Lotul a cuprins 7 pacienţi adulţi şi 17 pediatrici, F/M = 10/14. Distribuţia pacienţilor pe fenotipuri a fost următoarea: hepatică acută (H1) -3 (pediatrici, decedaţi toţi); hepatică cronică (H2) -12 (2 adulţi, 10 pediatrici); neurologică şi hepatică (N1) -6 (3 adulţi, 3 pediatrici), neurologică (N2) -3 (2 adulţi, 1 pediatric). Prezenţa afectării hepatice s-a corelat invers cu vârsta (p=0,02), pe când manifestările neurologice au fost în relaţie directă cu vârsta (p=0,05). Nu au existat diferenţe semnificative privind distribuţia pe fenotipuri în raport cu vârsta sau sexul pacienţilor, nici între scorul Leipzig şi vârstă, sex, modalitatea de debut, prezenţa şi severitatea afectării hepatice. Concluzii: Prezenţa manifestărilor hepatice la momentul diagnosticului BW descreşte cu vârsta, pe când cea a manifestărilor neurologice creşte. Distribuţia pe fenotipuri nu este influenţată de vârstă sau sex. Nu exista o relaţie între scorul diagnostic şi factorii demografici şi clinici studiaţi. Cuvinte cheie: Boala Wilson, fenotipurile clinice de boala Wilson, scorul Leipzig

High potential for CH₄ emission mitigation from oil infrastructure in one of EU's major production regions

Ambitious methane (CH4) emission mitigation represents one of the most effective opportunities to slow the rate of global warming over the next decades. The oil and gas (O&amp;G) sector is a significant source of methane emissions, with technically feasible and cost-effective emission mitigation options. Romania, a key O&amp;G producer within the EU, with the second highest reported annual CH4 emissions from the energy sector in the year 2020 (Greenhouse Gas Inventory Data - Comparison by Category, 2022), can play an important role towards the EU's emission reduction targets. In this study, we quantify CH4 emissions from onshore oil production sites in Romania at source and facility level using a combination of ground- and drone-based measurement techniques. Measured emissions were characterized by heavily skewed distributions, with 10 % of the sites accounting for more than 70 % of total emissions. Integrating the results from all site-level quantifications with different approaches, we derive a central estimate of 5.4 kg h−1 per site of CH4 (3.6 %–8.4 %, 95 % confidence interval) for oil production sites. This estimate represents the third highest when compared to measurement-based estimates of similar facilities from other production regions. Based on our results, we estimate a total of 120 kt CH4 yr−1 (range: 79–180 kt yr−1) from oil production sites in our studied areas in Romania. This is approximately 2.5 times higher than the reported emissions from the entire Romanian oil production sector for 2020. Based on the source-level characterization, up to three-quarters of the detected emissions from oil production sites are related to operational venting. Our results suggest that O&amp;G production infrastructure in Romania holds a massive mitigation potential, specifically by implementing measures to capture the gas and minimize operational venting and leaks.</p