Primary Ciliary Dyskinesia Caused by Homozygous DNAAF1 Mutations Resulting from a Consanguineous Marriage: A Case Report from Japan.

We present the case of a 58-year-old female patient with primary ciliary dyskinesia (PCD). She was born to parents with a consanguineous marriage. Chest computed tomography conducted at age 41 years indicated no situs inversus, and findings of bronchiectasis were limited to the middle and lingular lobes. Despite long-term macrolide therapy, bronchiectasis exacerbations frequently occurred. PCD was suspected because of the low nasal nitric oxide level (20.7 nL/min). Electron microscopy revealed outer and inner dynein arm defects, and a genetic analysis identified a homozygous single-nucleotide deletion in the DNAAF1 gene. Based on these results, the patient was diagnosed with PCD due to a biallelic DNAAF1 mutation.

A case of disseminated M. bovis bacillus Calmette-Guérin (BCG) disease after one month of BCG bladder infusion therapy and analysis of 77 cases of suspected BCG infection in Japan, 2017-2022.

Bacillus Calmette-Guerin (BCG) intravesical injections are used as adjuvant therapy for superficial bladder cancer. We report a case of a 78-year-old man who developed disseminated M. bovis BCG disease mimicking miliary tuberculosis early after BCG intravesical infusion. He started coughing after receiving three rounds of BCG for superficial bladder tumors, following transurethral resection of the tumors, approximately one month after initiation. Computerized tomography (CT) images showed diffuse nodular shadows in the bilateral lung fields with a random pattern. Consequently, disseminated BCG disease was diagnosed. Treatment with isoniazid, rifampicin, and ethambutol was initiated. Nine months after initiating treatment, CT showed the disappearance of the miliary shadows. We also discussed 77 cases of suspected BCG infection and the requests for Mycobacterium bovis BCG identification at our institution from 2017 to October 2022. Of these, 76 cases were M. bovis BCG, and 1 case was M. tuberculosis. Since M. tuberculosis can be identified in some patients with suspected BCG infection, it is crucial to distinguish between the two based on pathogenicity.

Minimum Inhibitory Concentrations before and after Antibacterial Treatment in Patients with Mycobacterium abscessus Pulmonary Disease.

The clinical importance of Mycobacterium abscessus (MABS) pulmonary disease has been increasing. However, there is still a lack of information about MIC distribution patterns and changes in clinical practice settings. The MIC results of rapidly growing mycobacteria isolated from 92 patients with nontuberculous mycobacterial pulmonary disease diagnosed from May 2019 to March 2021 were retrospectively analyzed. Most of the patients (86 patients; 93.5%) were infected with MABS; 46 with Mycobacterium abscessus subsp. abscessus (Mab), and 40 with Mycobacterium abscessus subsp. massiliense (Mma). Significant differences in susceptibility to clarithromycin (15.2% versus 80.0%, P < 0.001) and azithromycin (8.7% versus 62.5%, P < 0.001) were observed between Mab and Mma. Most isolates were susceptible to amikacin (80; 93.0%), and over half were susceptible to linezolid (48; 55.8%). Only one-quarter of isolates (22, 25.6%) were susceptible to imipenem, while more than half (56; 65.1%) had intermediate susceptibility. Fifty-one isolates (59.3%) had MIC values of less than 1 µg/mL for sitafloxacin, which were significantly higher than isolates for moxifloxacin (5; 5.8%), especially in Mab. Sixty-five (75.6%) isolates had MICs of less than 0.5 µg/mL to clofazimine. Two patients showed obvious MIC result changes: from susceptible to resistant to clarithromycin and from resistant to susceptible to amikacin and imipenem. In conclusion, MABS isolates were relatively susceptible to amikacin and linezolid, and clarithromycin and azithromycin were especially effective against Mma. In addition, sitafloxacin and clofazimine had low MICs and might be effective treatment agents. IMPORTANCE The MICs of isolates from 86 patients with Mycobacterium abscessus (MABS); 46 with Mycobacterium abscessus subsp. abscessus (Mab), and 40 with Mycobacterium abscessus subsp. massiliense (Mma) were retrospectively analyzed. The main findings are as follows: (i) Mma were significantly more susceptible to clarithromycin and azithromycin than Mab, and both subspecies tended to be more susceptible to clarithromycin than azithromycin. (ii) Most isolates were susceptible to amikacin (93.0%), and over half to linezolid (55.8%). (iii) Fifty-one isolates (59.3%) had MIC values of less than 1 µg/mL for sitafloxacin, and 65 (75.6%) had less than 0.5 µg/mL for clofazimine, which seems worth clinical investigating. (iv) Among nine cases analyzed chronological changes, only two patients showed obvious MIC result changes even after the long-term multidrug treatment. The present study revealed MICs of MABS clinical isolates before and after treatment in clinical settings, which could help develop future MABS treatments strategies.

Clinical factors on cavitary and nodular bronchiectatic types in pulmonary Mycobacterium avium complex disease.

BACKGROUND AND OBJECTIVE: Pulmonary Mycobacterium avium complex (MAC) disease is the most common pulmonary non-tuberculous mycobacteriosis (NTM). The clinical and radiological findings were similar to those of pulmonary tuberculosis, both of which are characterized by upper lobe cavities. On the other hand, the presence of middle and lower field lesions with centrilobular nodules and bronchiectasis has been noted. We analyzed the clinical feature of these two radiologically different types and identified their prognostic factors. METHODS: The clinical, laboratory and radiological findings of 273 cases of MAC disease, newly diagnosed during the recent 7 years periods, were investigated. They were radiologically classified into cavitary (Cav) and nodular bronchiectasis (NB) types at the time of diagnosis. The findings of 44 fatal cases were compared with those of the newly diagnosed cases. RESULTS: A prominent increase in the number of cases was recently found only in females. Low body mass index (BMI) and moderately reduced serum albumin were found at the time of first hospital visit in both newly diagnosed and fatal cases. In the latter, peripheral blood lymphocyte count was slightly decreased, and tuberculin skin test was negative in 57.7% of the cases. Radiologically, Cav type was prevalent in males and NB type in females in the newly diagnosed cases, while in the fatal cases Cav type was frequently found in both males and females. The two radiological patterns did not change during the entire disease course. CONCLUSION: Cav type in females was one of the pathogenetic factors. Deterioration of cell-mediated immunity may underlie MAC disease.