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Background Hepatocyte nuclear factor 1β (HNF1B), located on chromosome 17q12, causes renal cysts and diabetes syndrome (RCAD). Moreover, various phenotypes related to congenital anomalies of the kidney and urinary tract (CAKUT) or Bartter-like electrolyte abnormalities can be caused by HNF1B variants. In addition, 17q12 deletion syndrome presents with multi-system disorders, as well as RCAD. As HNF1B mutations are associated with different phenotypes and genotype-phenotype relationships remain unclear, here, we extensively studied these mutations in Japan. Methods We performed genetic screening of RCAD, CAKUT, and Bartter-like syndrome cases. Heterozygous variants or whole-gene deletions in HNF1B were detected in 33 cases (19 and 14, respectively). All deletion cases were diagnosed as 17q12 deletion syndrome, confirmed by multiplex ligation probe amplification and/or array comparative genomic hybridization. A retrospective review of clinical data was also conducted. Results Most cases had morphological abnormalities in the renal-urinary tract system. Diabetes developed in 12 cases (38.7%). Hyperuricemia and hypomagnesemia were associated with six (19.3%) and 13 cases (41.9%), respectively. Pancreatic malformations were detected in seven cases (22.6%). Ten patients (32.3%) had liver abnormalities. Estimated glomerular filtration rates were significantly lower in 6 the patients with heterozygous variants compared to those in patients harboring the deletion (median: 37.6 vs 58.8 ml/min/1.73 m ; p = 0.0091). Conclusion We present the clinical characteristics of HNF1B-related disorders. To predict renal prognosis and complications, accurate genetic diagnosis is important. Genetic testing for HNF1B mutations should be considered for patients with renal malformations, especially when associated with other organ involvement.

Our data highlight the characteristics of breath sounds in infants with risk factors for asthma. The breath sound analysis may be useful for assessing the airways of infants for asthma development.

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Children with CVA showed a high rate of inaudible wheezing that disappeared after β agonist inhalation. Changes in the spectrum curve indices also indicated the bronchial reversibility. These results may suggest the characteristics of CVA in children.

<b><i>Introduction:</i></b> Little is known about the association between bacterial infections and exacerbations of bronchial asthma. <b><i>Objective:</i></b> To elucidate the effect of bacterial infections on bronchial asthma, we examined pharyngeal bacterial colonization, duration of wheezing, and serum levels of cytokines and chemokines during acute exacerbations of asthma in children. <b><i>Methods:</i></b> Potential bacterial pathogens were investigated in pharyngeal samples and viruses obtained from nasal secretions of 111 children who were outpatients and/or in patients with acute exacerbations of asthma (mean/median age: 2.8/2.6, respectively). We also measured serum levels of 27 different cytokines/chemokines. <b><i>Results:</i></b> Pharyngeal bacterial cultures were positive in 110 of 111 children. The 3 major bacterial pathogens were <i>Streptococcus pneumoniae</i> (29.7%),<i> Moraxella catarrhalis</i> (11.7%), and<i> Haemophilus influenzae</i> (10.8%). <i>M. catarrhalis</i> was detected more frequently in patients with pneumonia. Furthermore, patients with <i>S. pneumoniae</i> colonization had significantly shorter wheezing episodes than those without it. In contrast, the duration of wheezing did not differ significantly among cases with other bacteria such as <i>M. catarrhalis</i> and <i>H. influenzae</i>. Furthermore, the length of wheezing episode in patients with <i>S. pneumoniae</i> colonization showed significant inverse correlation with peripheral white blood cell count, neutrophil count, and C-reactive protein, while there was no significant correlation between duration of wheezing and these 3 parameters among patients with <i>M. catarrhalis</i> or <i>H. influenza</i>. Among the 27 cytokines/chemokines, only serum tumor necrosis factor (TNF)-α was significantly lower in patients with <i>S. pneumoniae</i> colonization than in those without it. <b><i>Conclusions:</i></b> These results suggested that pharyngeal <i>S. pneumoniae</i> colonization plays a suppressive role on the pathophysiology during acute exacerbations of asthma.

Background and objective: An effort-independent breath sound analysis is expected to be a safe and simple method for clinical assessment of changes in airway function. The effects of bronchoconstriction and bronchodilation on novel breath sound parameters in asthmatic children were investigated. Methods: The study population included 49 children with atopic asthma (male = 33; mean age: 10.2 years). We evaluated breath sound parameters of the highest frequency of the power spectrum (HFp), frequency limiting 50% and 99% of the power spectrum (F 50 and F 99 ) and roll-off from 600 Hz to the HFp (Slope). We also assessed new parameters obtained using the ratios of sound spectrum parameters (spectrum curve indices), such as the ratio of the third and fourth power area to the total power area (P 3 /P T and P 4 /P T ), the ratio of the third and fourth areas to the total area under the curve (A 3 /A T and B 4 /A T ) and the ratio of power and frequency at 75% of HFp and 50% of HFp (RPF 75 and RPF 50 ). This was measured before and after methacholine inhalation challenge and after β 2 agonist inhalation. Results: The parameters, F 50 and F 99 , showed no changes after methacholine inhalation. Conversely, the A 3 /A T (12.5-10.0%, P < 0.001), B 4 /A T (7.6-5.5%, P < 0.001), RPF 75 (6.7-4.0 dBm/Hz, P < 0.001) and RPF 50 (5.8-4.3 dBm/Hz, P < 0.001) were significantly decreased. These values returned to the original level after β 2 agonist inhalation. Conclusion: Spectrum curve indices indicate bronchoconstriction and bronchodilation. These parameters may play a role in the assessment of airway narrowing in asthmatic children.