Tobu Ryoiku Center

<bold>Background and Aim:</bold> The role of airway mucus plugging in asthma pathophysiology is well-established. However, its relationship with infectious episodes and type 2 inflammation remains unclear in refractory asthma with bronchiectasis. As part of the BEXAS study (Nomura N, et al. <italic>Respir Res</italic> 2022; 23: 365), this study aimed to clarify the association between mucus plugging, infectious episodes, and type 2 inflammation, with a specific focus on plug location. <bold>Methods:</bold> Patients with refractory asthma complicated by bronchiectasis, but not with allergic bronchopulmonary aspergillosis, were included, if they had high-resolution CT images suitable for mucus score evaluation. Mucus plugging was scored separately for bilateral upper and lower lobes, as well as for the total lung. Cluster analysis was performed using mucus scores in the upper and lower lobes and the number of lobes affected by bronchiolitis. <bold>Results:</bold> Forty-two patients were included, and three distinct clusters were identified. CL 1 (n = 14) was characterized by lower-lobe-dominant mucus plugs, the highest number of bronchiolitis-affected lobes, frequent detection of Pseudomonas, systemic corticosteroid-requiring exacerbations, and bronchopneumonia. This cluster also exhibited the lowest FeNO and %FEV1. CL 2 (n = 6) showed high mucus scores in both lower and upper lobes, along with the highest FeNO levels. CL 3 (n = 22) had the lowest mucus scores overall. The degree of bronchiectasis was comparable among the three clusters. <bold>Conclusions:</bold> Lower-lobe-dominant mucus plugs may reflect the severest phenotype, characterized by frequent bronchiolitis involvement and infectious episodes. The location of mucus plugs may be clinically important.

Background: About 70% of Japanese children with severe motor and intellectual disabilities (SMID) live at home, and the number is increasing. Family members have an enormous burden of daily physical care for these children. A top priority is to understand quality of life (QoL), family function, and family empowerment to effectively support these families. We aimed to assess current living situations of families with a SMID child, and to reveal the relationships between QoL, family function, and family empowerment. Methods: Sixty-five family members from 34 families with a SMID child participated in this study. We assessed 5 parameters using the Japanese versions of the following instruments: World Health Organization Quality of Life 26 (WHOQOL26), Kinder Lebensqualitats Fragebogen (KINDL), Family Assessment Device (FAD), Family Adaptability and Cohesion Evaluation Scale KG-4 (FACESKG-4), and Family Empowerment Scale (FES). Correlation and multiple regression analyses were conducted; QoL score was the objective variable. Results: Participants included 54 parents (34 mothers, 20 fathers) and 11 siblings. The mean age of SMID children was 10.4 ± 5.03 years. Twenty-two children needed multiple types of medical care. The mean age of parents and siblings was 41.5 ± 6.16 years and 15.5 ± 2.35 years, respectively. The mean QoL score (3.28 ± 0.5) was similar to the Japanese average. The mean KINDL score (77.2 ± 12.1) was higher than those of previous studies. The mean FAD score was 1.97 ± 0.32. For FACEKG-4, the score of adaptability was correlated with WHOQOL score (r = 0.459, p < 0.05). The mean score of FES was 113.6 ± 14. As the result of multiple regression analysis, lower family FAD scores ([sb] = ?0.61, p < 0.01) indicated higher family function and greater age of participants (sb = 0.495, p < 0.01) was correlated with higher WHOQOL scores (F = 15.208, p < 0.01). Conclusions: Our results indicated that the individual QoL depended on the age of participants (equals the years of experience caring for a SMID child) and the recognition of family function as a whole. Thus, to improve family members’ QoL, we should focus on individuals and also approach the family as a whole.

.The Growject® database on human GH treatment in Turner syndrome was analyzed in theTurner Syndrome Research Collaboration, and the relationships of the frequencies ofspontaneous breast development and spontaneous menarche with karyotype and GH treatmentwere investigated. One hundred and three cases started GH treatment with 0.5 IU/kg/ week(0.5 IU group), and their dose was increased to 0.35 mg/kg/wk midway through the treatmentcourse. Another 109 cases started GH at a dose of 0.35 mg/kg/wk (0.35 mg group).Spontaneous breast development was observed in 77 (36.3%) of the 212 patients, andspontaneous menarche occurred in 31 patients (14.6%). The frequency of spontaneous breastdevelopment was significantly lower in patients with the 45,X karyotype and significantlyhigher in patients with a structural abnormality of the second X chromosome. The frequencyof spontaneous menarche was significantly higher in patients with mosaicism characterizedby X monosomy and a cellular line with no structural abnormality of the X chromosome. Nosignificant differences in frequencies of spontaneous breast development and spontaneousmenarche were observed between the two dose groups, indicating that GH treatment does notincrease the frequency of spontaneous puberty.

We report a Japanese woman with de novo 6p monosomy and 10q trisomy [46,XX,der(6)t(6;10)(p25.1;q25.2)] whose clinical manifestations resemble those of xeroderma pigmentosum (XP) and Cockayne syndrome (CS), known as premature aging syndromes. She had a history of easy sunburning and presented a number of freckles and hypopigmented spots on her face as those of XP. Magnetic resonance imaging and computed tomography scanning demonstrated intracranial abnormalities like those seen in CS. DNA repair studies using the patient's fibroblasts demonstrated hypersensitive responses to ultraviolet (UV). XP, CS, and UV-sensitive syndromes with photosensitivity disturbances have been known as DNA repair abnormalities. However, an association of 6p monosomy with these diseases has not been reported so far. Molecular analysis of the patient we described may contribute to the identification of novel DNA-repair-related gene(s) and/or to the senile mechanism.

We describe a woman with 15q11.2-q14 duplication who had clinical manifestations of proximal 15q trisomy and hyperpigmentation. Within this region, the P gene, located at chromosome segment 15q11.2-q12, is associated with oculocutaneous albinism type II (OCA2) and with hypopigmentation in the Prader-Willi and Angelman chromosome 15q deletion syndromes. We therefore hypothesized that in this woman skin hyperpigmentation might result from a duplication of the P gene. We carried out chromosomal and interphase fluorescence in situ hybridization (I-FISH) analyses, and determined that the P gene is duplicated in this woman. Our findings demonstrate that trisomy of the P gene can be associated with skin hyperpigmentation.