Cutaneous Mycobacterium haemophilum infection in a kidney transplant recipient after acupuncture treatment

P>Mycobacterium haemophilum is a slow-growing nontuberculous mycobacterium that can cause disease in both immunocompetent and immunocompromised patients. The most common clinical presentations of infection are the appearance of suppurative and ulcerated skin nodules. For the diagnosis, samples collected from suspected cases must be processed under the appropriate conditions, because M. haemophilum requires lower incubation temperatures and iron supplementation in order to grow in culture. In this case report, we describe the occurrence of skin lesions in a kidney transplant recipient, caused by M. haemophilum, associated with acupuncture treatment. The diagnosis was established by direct smear and culture of material aspirated from cutaneous lesions. Species identification was achieved by characterization of the growth requirements and by partial sequencing of the hsp65 gene. The patient was successfully treated with clarithromycin and ciprofloxacin for 12 months. Considering that the number of patients receiving acupuncture treatment is widely increasing, the implications of this potential complication should be recognized, particularly in immunosuppressed patients

Analyses of 1,236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations

Background: primary ciliary dyskinesia (PCD) represents a group of rare hereditary disorders characterized by deficient ciliary airway clearance that can be associated with laterality defects. We aimed to describe the underlying gene defects, geographical differences in genotypes and their relationship to diagnostic findings and clinical phenotypes.Methods: genetic variants and clinical findings (age, sex, body mass index, laterality defects, FEV1) were collected from 19 countries using the ERN LUNG International PCD Registry. Genetic data were evaluated according to ACMG guidelines. We assessed regional distribution of implicated genes and genetic variants as well as genotype correlations with laterality defects and FEV1.Results: 1236 individuals carried 908 distinct pathogenic DNA variants in 46 PCD genes. We found considerable variation in the distribution of PCD genotypes across countries due to the presence of distinct founder variants. The prevalence of PCD genotypes associated with pathognomonic ultrastructural defects (mean 72%; 47–100%) and laterality defects (mean 42%; 28–69%) varied widely among the countries. The prevalence of laterality defects was significantly lower in PCD individuals without pathognomonic ciliary ultrastructure defects (18%). The PCD cohort had a reduced median FEV1 z-score (−1.66). In the group of individuals with CCNO (−3.26), CCDC39 (−2.49), and CCDC40 (−2.96) variants, FEV1 z-scores were significantly lower, while the group of DNAH11 (−0.83) and ODAD1 (−0.85) variant individuals had significantly milder FEV1 z-score reductions compared to the whole PCD cohort.Conclusion: this unprecedented multinational dataset of DNA variants and information on their distribution across countries facilitates interpretation of genetic epidemiology of PCD and provides prediction of diagnostic and phenotypic features such as the course of lung function

Some epigraphic and archaeological documents from Western Anatolia during the late Ottoman period

The focus of this article is on the post-medieval archaeological heritage of Izmir, especially during the 19th century. The material selected consists of Armenian inscriptions from Izmir and its close environs, since there is a paucity of archaeological scholarship for the Armenian community of the Ottoman Empire. The paper is based on the survey of sixteen Armenian inscriptions across nine locations in and around Izmir, with discussion of the Armenian material culture of the Late Ottoman Period, as well as transcription and translation of these inscriptions, although a history of Armenia in general is outside the scope of the article. As Armenian grave markers can be taken as active interventions in social relations, this paper offers a potential for reconstructing the social complexities of late Ottoman Izmir