2 articles
Disability-adjusted life years (DALY) is a multidimensional measure used to quantify specific tasks of the disease. Chronic liver disease attributed to hepatitis Delta virus (HDV) is one of the major causes that contribute to morbidity and mortality in our country. The DALY estimate in HDV-induced liver disease has the potential to highlight both fatal and nonfatal outcomes of the disease and thus, help in policy making and allocation of health resources.
This was an analytical prognostic study conducted in the 2021–2024 period, with the enrollment of 104 patients with HDV-induced liver disease. YLL was predictively rated using Child-Pugh's estimate of the remaining years of life. The chronic liver disease questionnaire was used to evaluate patients' disabilities along with the disability weights of the Global Burden of Disease study, calculating YLD. The impact of DALY was interpreted according to the patient's safety indicators.
Results. 104 patients with HDV, originating in different areas of the country, were evaluated, with an average age of 56 ±4.5 years. Substantial YLD losses caused by HDV were mainly reported in working class. The greatest losses of YLD and DALY were caused by cirrhosis of the liver, followed by hepatocellular carcinoma. A great rate of mortality attributed to HDV was seen in the 45-59 and 60-74 age group. A total of 739.1 YLL in male gender and 719.5 in females were recorded for cirrhosis. Overall, men attest a DALY value of 1358.44 total/29.53 per person, and women registered – 1477.3total /25.47 per person.
Chronic liver disease attributed to HDV is a medical challenge in Republic of Moldova. Loading the national medical system with serious and overwhelmed patients, make the DALY calculation approach a priority setting.
Wilson’s disease (WD) is a rare genetic disease with autosomal recessive transmission, thus screening of all family members of newly diagnosed patients is recommended. Therefore, we aimed to analyze the proband’s family members to detect asymptomatic cases and early treatment initiation.
There were retrospectively evaluated 12 families, between 2008 - 2023. The Leipzig Scoring System was used to assess the diagnosis. Genetic testing was performed in all cases by the Sanger sequencing method, examining exons with a high and moderate frequency of mutations.
All patients were of Caucasian origin, and originally from Moldova. No patient reported consanguineous relationships. In 9 families, first-degree relatives were tested - parents and siblings, in the other 3 cases only their descendants were evaluated. In 6/12 cases: both parents were healthy carriers; in the other 3 families, one parent was a healthy carrier, but the other parent had not been tested. Among siblings, 4 healthy carriers and 2 healthy siblings were identified. 7 new family members with WD were identified in 5/12 families. 6 patients were asymptomatic, and 1 was symptomatic. The most frequent mutations detected were p.H1069Q and p.G1341D, both as compound heterozygous and homozygous recessive. A rare mutation has been detected.
Genetic counseling is important for the family of the patient with Wilson’s disease, as the evaluation of first-degree relatives is recommended by all international guidelines. First-degree relatives include the proband’s siblings, as well as the proband’s offspring and parents. It is also important to assess distant relatives, especially in more isolated areas. Although it is an autosomal recessive disorder, systemic family screening is recommended, as cases of paradoxical transmission are recorded. The c.2292C>T variant, identified in one patient, represents a rare mutation that, when occurring in combination with another pathogenic mutation or a homozygous state, can cause WD.
Family screening greatly influences identifying asymptomatic members with Wilson’s disease. Genetic testing is very important in differentiating healthy carriers from asymptomatic members, especially when deciding treatment tactics.