Croatian medical journal
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Croatian medical journal · Oct 2024
Case ReportsA novel alpha-1 antitrypsin gene variant in a patient with Kartagener's syndrome: a case report.
Alpha-1 antitrypsin deficiency (AATD) is a rare autosomal co-dominant disease caused by mutations in the SERPINA1 gene. The alleles most frequently associated with AATD are protease inhibitors S and Z. ⋯ She was identified with a hitherto unreported AATD mutation: a heterozygous variant rs1460874866 in a previously undefined exon 4 (NM_001127701.1) of the SERPINA1 gene. Although Kartagener's syndrome is a genetic cause of bronchiectasis, patients with this syndrome are recommended to undergo AATD testing.
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Croatian medical journal · Aug 2024
Is there a relationship between attitudes of general practitioners/family doctors and attitudes of their patients regarding industry-sponsored clinical investigations? A cross-sectional survey in a convenience sample of doctors and patients across nine European countries.
To assess the relationship between the attitudes of general practitioners/family medicine doctors (GP/FD) and of their patients toward industry-sponsored clinical research. ⋯ In the present convenience sample, lay-person attitudes about and willingness to participate in industry-sponsored clinical studies were associated with the attitudes of their GPs/FDs.
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Croatian medical journal · Aug 2024
Strong and weak points in the quality of life of school-age children with newly diagnosed uncomplicated epilepsy over the first six months: golden hours for prevention.
To determine changes in the quality of life associated with epilepsy in school-age children with newly diagnosed uncomplicated epilepsy over the first six months after diagnosis to find points relevant for the early prevention of deterioration in quality of life. ⋯ Bearing in mind that stigma and intrapersonal struggles are the major factors affecting the quality of life in children with epilepsy, psychological and social support is highly recommended in the first six months following an epilepsy diagnosis. Since intrapersonal relationships improved over six months, compensating for other deteriorations in the quality of life, children with epilepsy should be encouraged to socialize with their peers and to join organizations and actions that encourage social contact.