The prevalence of anxiety and depression in bronchiectasis patients and their association with disease severity: a cross-sectional study.

Bronchiectasis is a chronic lung disease characterized by recurrent respiratory symptoms. Several studies demonstrated that psychological comorbidities are common in patients with bronchiectasis. The aim of this study is to investigate the prevalence of anxiety and depression in bronchiectasis patients and assess their association with disease severity. In this cross-sectional study, we included patients diagnosed with bronchiectasis. The study was conducted using an interviewer-administered questionnaire via phone calls and data collected from the electronic medical records at JUH. The questionnaire included patients' demographics and disease characteristics. Anxiety and depression were assessed using GAD7 and PHQ9 respectively. Bronchiectasis disease severity was assessed using BSI and FACED score. The total number of included patients was 133. Moreover, 53.4% of the participants were females while the rest were males (46.6%). PHQ9 demonstrated that 65.4% of the patients had depression. Regarding anxiety, GAD7 scale showed that 54.1% of the patients had anxiety. Pearson correlation showed that bronchiectasis severity index was significantly associated only with PHQ9 depression scores (r = 0.212, P value = 0.014). The prevalence of depression and anxiety is high among patients with bronchiectasis. We believe that patients affected with bronchiectasis should be screened for depression to improve their quality of life.

SLC26A4 Phenotypic Variability Influences Intra- and Inter-Familial Diagnosis and Management.

SLC26A4 is one of the most common genes causing autosomal recessive non-syndromic sensorineural hearing loss (SNHL). It has been reported to cause Pendred Syndrome (PDS) and DFNB4 which is deafness with enlarged vestibular aqueduct (EVA). However, mutated SLC26A4 is not conclusive for having either DFNB4 or PDS. Three unrelated Jordanian families consisting of eight affected individuals with congenital bilateral hearing loss (HL) participated in this study. Whole-exome and Sanger sequencing were performed to investigate the underlying molecular etiology of HL. Further clinical investigations, including laboratory blood workup for the thyroid gland, CT scan for the temporal bone, and thyroid ultrasound were performed. Three disease-causing variants were identified in SLC26A4 in the three families, two of which were novel. Two families had a novel pathogenic homozygous splice-site accepter variant (c.165-1G>C), while the third family had compound heterozygous pathogenic variants (c.1446G>A; p.Trp482* and c.304G>A; p.Gly102Arg). Our approach helped in redirecting the diagnosis of several affected members of three different families from non-syndromic HL to syndromic HL. Two of the affected individuals had typical PDS, one had DFNB4, while the rest had atypical PDS. Our work emphasized the intra- and inter-familial variability of SLC26A4-related phenotypes. In addition, we highlighted the variable phenotypic impact of SLC26A4 on tailoring a personalized healthcare management.