Quality-of-Life Assessment in Children with Mild to Moderate Bronchial Asthma.

Background and Objectives: Assess the quality of life of children aged 2-10 with mild to moderate bronchial asthma. To evaluate the general health condition of children with mild and moderate severity bronchial asthma. To determine health changes in children with mild- and moderate-severity bronchial asthma as they grow older. To evaluate the impact of mild- and moderate-severity bronchial asthma on children's daily and social activities, physical health, emotional state, and general well-being. Materials and Methods: A comparative cross-sectional study was conducted in March-June 2020. Parents or guardians of 2-10-year-old children without bronchial asthma and children with mild to moderate bronchial asthma were interviewed after receiving their written informed consent. The questionnaire was based on the standardized quality-of-life quiz SF-36. A total of 248 questionnaires were collected-106 from the parents or guardians of children with bronchial asthma and 142 from parents/guardians of children without bronchial asthma. For further analysis, 106 children without bronchial asthma and with no chronic conditions were selected. Quantitative variables were compared using the Mann-Whitney U test and qualitative data using the chi-square (χ2) criteria. Quantitative data were described by giving means, medians, and standard deviations (SD); qualitative features by giving relative frequencies. Statistical data were analyzed using SPSS and Excel 2020. Results: Children with mild and moderate asthma exhibit poorer health compared to their healthy counterparts. Only 20.7% of respondents with asthma reported excellent or very good health, contrasting with 64.1% of healthy children (p < 0.001). As children with asthma age, their general condition improves, with 46.2% showing improvement in the past year, while 42.5% of healthy children had a stable condition (p < 0.05). In various activities, children with asthma face more constraints than healthy children (p < 0.05), including energetic activities (sick-59.5%; healthy-10.3%), moderate activities (sick-24.5%; healthy-4.7%), climbing stairs (sick-22.7%; healthy-3.8%), and walking over 100 m (sick-9.4%; healthy-0%). Children with asthma are more likely to experience exhaustion, anxiety, tiredness, lack of energy, and restraint in public activities (p < 0.05). Conclusions: Parents/caregivers of children with mild to moderate bronchial asthma rate their health worse than those of healthy children do. As children with mild to moderate bronchial asthma grow, the disease impact on their overall well-being decreases. Children with mild to moderate bronchial asthma, compared to healthy children, experience more limitations in vigorous or moderate activities; face more difficulties climbing stairs or walking more than 100 m; frequently feel exhaustion, anxiety, fatigue, or lack of energy; and encounter restrictions in social activities.

A Lithuanian Case of Tyrosinemia Type 1 with a Literature Review: A Rare Cause of Acute Liver Failure in Childhood.

Hereditary type 1 tyrosinemia (HT1) is a rare inherited autosomal recessive disorder of tyrosine metabolism, characterized by progressive liver damage, dysfunction of kidney tubules, and neurological crises. In the course of this disease, due to the deficiency of the enzyme fumarylacetoacetate hydrolase (FAH), toxic intermediate metabolites of tyrosine breakdown, such as fumarylacetoacetate (FAA), succinylacetoacetate (SAA), and succinylacetone (SA), accumulate in liver and kidney cells, causing cellular damage. Because of this, an increased SA concentration in the blood or urine is pathognomonic of HT1. In the year 2000, HT1 was diagnosed in Lithuania for the first time, and this was the first time when a specific treatment for HT1 was administered in the country. Over two decades, four cases of this disease have been diagnosed in Lithuania. In the first of these patients, the disease was diagnosed in infancy, manifesting as liver damage with liver failure. Treatment with nitisinone was initiated, which continues to be administered, maintaining normal liver function. Liver transplantation was performed on two subsequent patients due to complications of HT1. It is crucial to diagnose HT1 as early as possible in order to reduce or completely eliminate complications related to the disease, including progressive liver failure and kidney dysfunction, among others. This can only be achieved by conducting a universal newborn screening for tyrosinemia and by starting treatment with nitisinone (NTBC) before the age of 1 month in all cases of HT1. However, in those countries where this screening is not being carried out, physicians must be aware of and consider this highly rare disorder. They should be vigilant, paying attention to even minimal changes in a few specific laboratory test results-such as unexplained anemia alongside neutropenia and thrombocytopenia-and should conduct more detailed examinations to determine the causes of these changes. In this article, we present the latest clinical case of HT1 in Lithuania, diagnosed at the Children's Diseases' Clinic of the Lithuanian University of Health Sciences (LUHS) Hospital Kaunas Clinics. The case manifested as life-threatening acute liver failure in early childhood. This article explores and discusses the peculiarities of diagnosing this condition in the absence of universal newborn screening for tyrosinemia in the country, as well as the course, treatment, and ongoing monitoring of patients with this disorder.