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Introduction: The Self-Evaluation of Communication Experiences after Laryngectomy (SECEL) is a 35-item patient-reported questionnaire developed to address the communication needs of patients with laryngectomies. The aim was to translate, cross-culturally adapt, and validate the Croatian version. Methods: The SECEL was translated from English by two independent translators and back-translated by a native speaker, after which it was approved by an expert committee. The Croatian version of the Self-Evaluation of Communication Experiences after Laryngectomy questionnaire (SECEL:HR) was filled in by 50 laryngectomised patients who had completed their oncological treatment a year prior to inclusion in the study. Patients also filled in the Voice Handicap Index (VHI) and the Short Form Health Survey (SF-36) on the same day. All patients completed the SECEL:HR twice, the second time being 2 weeks after the initial test. Maximum phonation time and diadochokinesis of articulation organs were used for objective assessment. Results: Among the Croatian patients, the questionnaire was well-accepted and demonstrated good test-retest reliability and internal consistency for two out of three subscales. The correlations between VHI, SF-36, and SECEL:HR were moderate to strong. There were no significant differences between patients who are using oesophageal speech, tracheoesophageal speech, or the electrolarynx based on the SECEL:HR. Conclusion: Preliminary findings of the research indicate that the Croatian version of the SECEL has sufficient psychometric qualities, high reliability, and good internal consistency, with a Cronbach's alpha of 0.89 for the total score. The Croatian version of SECEL can be recommended as a reliable and clinically valid measure for the assessment of substitution voices in Croatian-speaking patients. [ABSTRACT FROM AUTHOR]

Objective: Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) is a rare disease, characterized by swellings. We aimed to characterize on a clinical and molecular basis C1-INH-HAE patients in the Republic of Macedonia. Results: All 15 patients from six unrelated families were diagnosed with C1-INH-HAE type I, with a mean age of symptom onset of 11 years and an average delay of diagnosis of seven years. Patients reported on average 31 angioedema attacks/year, with a median clinical severity score (CSS) of 7. We identified three known mutations and two new mutations (c.813_818delCAACAA and c.1488T > G) that were reported for the first time. To address the genotype-phenotype association, a pooled analysis including 78 C1-INH-HAE south-eastern European patients was performed, with additional analysis of F12-46C/T and KLKB1-428G/A polymorphisms. We demonstrated that patients with nonsense and frameshift mutations, large deletions/insertions, splicing defects and mutations at Arg444 exhibited an increased CSS compared with missense mutations, excluding mutations at Arg444. In addition, the CC F12-46C/T polymorphism was suggestive of earlier disease onset. Discussion: Genetic analysis helped identify the molecular basis of C1-INH-HAE given that causative mutations in SERPING1 were detected in all patients, including an infant before the appearance of clinical symptoms. We identified two novel mutations and further corroborated the genotype-phenotype relationship, wherein mutations with a clear effect on C1-INH function predispose patients to a more severe disease phenotype and CC F12-46C/T predisposes patients to earlier disease onset. KEY MESSAGES: • In the present nationwide study, we aimed to characterize on a clinical and molecular basis patients with hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) in the Republic of Macedonia.   • Causative mutations in SERPING1 were detected in all 15 C1-INH-HAE patients from six Macedonian families, including an infant, before the appearance of clinical symptoms.   • We identified three known mutations and two novel mutations (c.813_818delCAACAA and c.1488T > G). These findings further corroborated the genotype-phenotype relationship, wherein mutations with a clear effect on C1-INH function predispose patients to a more severe disease phenotype and the CC F12-46C/T polymorphism predisposes patients to earlier disease onset. [ABSTRACT FROM AUTHOR]

Objective. Angioedema (AE) is a potentially life-threatening event. We investigated the etiology of AE, with the emphasis on bradykinininduced angioedema treatment in emergency medicine. Methods. The retrospective study included 237 patients with AE, who were examined and treated in two hospitals (group A and B) in Croatia from 2009 to 2016. The location and duration of AE, data about chronic diseases and treatment, potential causative agents (food, drugs, insect bites and chemicals), physical examination data and the subsequent treatment were analyzed. Results. There was no statistical difference regarding age or comorbidities but there was a statistically significant difference in etiology between the groups (Chi-square, P=0.03). Renin-angiotensin-aldosterone system (RAAS) blocker induced AE was the main cause of emergency attendance in group A (37.5%) and among the leading causes in group B (18.8%). Bradykinin-induced AE (hereditary angioedema (HAE) and RAAS-AE) were the leading causes in a total of 75 (31.5%) patients. RAAS-AE was treated with glucocorticoids and antihistamines. HAE attacks in both groups (2/7 patients, 1.5/6%) were treated with specific therapy. Other causes of AE in groups A/B were insect bites (15/23 patients, 13.5/20%), use of antibiotics/analgetics (11/17 patients, 9/15%), gastroesophageal reflux disease (10/11 patients, 8/9%), neoplasms (5/6 patients, 4/5%) and idiopatic (32/31 patients, 26.5/26%). 21% of patients were hospitalized. Conclusion. Bradykinin-mediated AE was the main cause of emergency attendance associated with AE. Advances in the treatment of HAE, with case reports of patients with RAAS-AE treated with C1 esterase inhibitor concentrate or bradykinin receptor antagonist, may prove to be a new, reliable and efficacious therapy option. [ABSTRACT FROM AUTHOR]

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The functional promoter F12-46C/T variant predicts the asymptomatic phenotype of C1-INH-HAE When addressing the possible association of the I F12 i -46C/T (rs1801020) variant with the appearance of clinical symptoms in 88 C1-INH-HAE patients and including only adult asymptomatic carriers of the I SERPING1 i gene mutation (since the majority of patients, over 90%, are symptomatic by the age of 23 years[[2], [10]]), we found striking differences in frequencies of the I F12 i -46C/T variant between symptomatic and asymptomatic C1-INH-HAE patients (Table, Figure). Our results indicate that the T allele in I F12 i -46C/T might be protective, as the C allele and CC genotype were highly over-represented among symptomatic C1-INH-HAE patients. [Extracted from the article]

Objective:Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) is a rare autosomal dominant disease caused by mutations in theSERPING1gene. It can affect many regions in the body, but potentially life-threatening laryngeal oedemas are of concern. Methods:Twenty-three subjects from two families were recruited for clinical data evaluation and molecular analysis at General Hospital Šibenik, Croatia. Results:Decreased levels of C1 inhibitor were detected in 12 adult patients and three young asymptomatic persons. The same novel deletion of two nucleotides on exon 3 (c.74_75delAT) was identified in all of them. A history of laryngeal oedema was present in 10 patients (83%), and all patients reported laryngeal attacks at least once a year. The delay in diagnosis decreased noticeably from the first to the last generation. Conclusions:We identified a novel causative mutation inSERPING1in several affected members of two apparently unrelated families with a high frequency of laryngeal oedema. Molecular analysis of large C1-INH-HAE families will provide new insights on the genotype–phenotype relationship.Key messagesHereditary angioedema due to C1 inhibitor deficiency is a rare autosomal dominant disease caused by mutations in the SERPING1 gene, and laryngeal oedema is of concern because it can cause death by asphyxiation.A novel causative mutation in SERPING1, a deletion of two nucleotides on exon 3 (c.74_75delAT), was identified in several affected members of two apparently unrelated families with a high frequency of laryngeal oedema.Molecular analysis of large C1-INH-HAE families will provide new insights on the genotype–phenotype relationship because it appears that the mutation type may affect disease severity. [ABSTRACT FROM PUBLISHER]