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Mycobacterium riyadhense is a newly described slowly growing, non-tuberculous mycobacterium species. We describe 2 new cases of Mycobacterium riyadhense infections presenting with extra-pulmonary involvement, and reviewed all previously reported cases in the literature. We also describe the spectrum of the disease and explore treatment options based on the experience with the current and previously reported cases.

In addition to the obligatory pathogenic species of the Mycobacterium tuberculosis complex and Mycobacterium leprae, the genus Mycobacterium also includes conditionally pathogenic species that in rare cases can lead to the development of nontuberculous mycobacterial diseases. Because tuberculosis and mycobacteriosis have similar clinical signs, the accurate identification of the causative agent in a clinical microbiology laboratory is important for diagnostic verification and appropriate treatment. This report describes a low-density hydrogel-based microarray containing oligonucleotide probes based on the species-specific sequences of the gyrB gene fragment for mycobacterial species identification. The procedure included the amplification of a 352-nucleotide fragment of the gene and its hybridization on a microarray. The triple-species-specific probe design and the algorithm for hybridization profile recognition based on the calculation of Pearson correlation coefficients, followed by the construction of a profile database, allowed for the reliable and accurate identification of mycobacterial species, including mixed-DNA samples. The assay was used to evaluate 543 clinical isolates from two regions of Russia, demonstrating its ability to detect 35 mycobacterial species, with 99.8% sensitivity and 100% specificity when using gyrB, 16S, and internal transcribed spacer (ITS) fragment sequencing as the standard. The testing of clinical samples showed that the sensitivity of the assay was 89% to 95% for smear-positive samples and 36% for smear-negative samples. The large number of identified species, the high level of sensitivity, the ability to detect mycobacteria in clinical samples, and the up-to-date profile database make the assay suitable for use in routine laboratory practice., (Copyright © 2015, American Society for Microbiology. All Rights Reserved.)

We report the first case of an immunocompromised adult patient presenting with cervicofacial lymphadenitis due to Mycobacterium haemophilum, confirmed using hsp65 gene sequencing and line-probe assays. In resource-limited settings, especially in developing countries, appropriate culture methods and rapid molecular diagnostic tools such as hsp65 gene sequencing for identification of this organism may not be readily available. This may cause M. haemophilum infections to go unrecognised or lead to delays in diagnosis. Lack of heightened awareness about the potential for this mycobacterial species to cause infections may also contribute to possible underestimation of M. haemophilum cases in the developing world.

A 2-year-old dappled Percheron horse had a wasting condition that did not respond to antibiotic treatments and ultimately resulted in death. Thickening of the wall of the large colon and enlargement of the mesenteric lymph nodes were observed at postmortem examination, along with the presence of pinpoint whitish foci in the liver. Microscopic examination of affected tissues revealed diffuse chronic granulomatous enterocolitis, granulomatous mesenteric lymphadenitis, and multifocal granulomatous hepatitis. The DNA extracted from paraffin-embedded intestinal and lymph node samples was analyzed using both a polymerase chain reaction (PCR) assay and PCR-restriction endonuclease analysis and demonstrated the presence of Mycobacterium bovis., (© 2015 The Author(s).)

Rapidly growing mycobacteria (RGM) are recognized agents of surgical site infections. Recently, RGM skin and soft tissue infections have been increasingly reported. As symptoms, clinical signs and disease latency remain non-specific and microbiological detection requires targeted growth media, RGM diagnosis remains challenging for clinicians. Appropriate management is often delayed due to lack of awareness of these infections. RGM infections after plastic surgery have also been described in the setting of interventions performed in developing countries, a growing phenomenon commonly known as medical tourism. We describe a case of Mycobacterium chelonae/abscessus infection following liposuction and liposculpture procedures performed in the Dominican Republic and review the literature on this subject.

We present the first case of pediatric intracranial Mycobacterium abscessus infection in a 16-month-old female with neurofibromatosis type 1. We describe a successful treatment regimen including excisional biopsy combined with high-dose steroids and 16 weeks of triple antimicrobial therapy that resulted in clinical cure and an excellent neurologic outcome.

Mycobacteria infections are an important medical problem, and many are regarded as emerging and re-emerging diseases. Mycobacterium tuberculosis, the causative agent of tuberculosis, remains a leading cause of human morbidity and mortality worldwide, with approximately 8.6 million cases and 1.3 million deaths in 2012. In addition, the incidence of nontuberculous Mycobacterium infection has significantly increased, especially among developed countries. Although phenotypical appearances such as culture characteristics and/or susceptibility to anti-Mycobacterium drugs are variable between different mycobacterial species, early diagnosis is crucial in terms of patient treatment and clinical outcome. In this manuscript, we describe the development of diagnostic techniques, from the classical/conventional to the most recent advances, and provide an overview of the future direction of discrimination procedures.

The field of clinical microbiology has been revolutionised by genomic and proteomic methods, which have facilitated more rapid diagnosis and characterisation of infection in many cases. In contrast, mycobacteriological evolution has tended to retain the traditional methods of smear microscopy for detection of acid-fast bacilli to indicate mycobacteria, along with culture, and in synergy with more modern molecular methods. Thus, efforts have been focused on reducing the time to diagnosis of infection, while increasing the amount of diagnostic information available, including more definitive speciation, and more rapid susceptibility test results. Although smear microscopy remains a mainstay for the laboratory-based diagnosis of mycobacterial infection, molecular testing has vastly reduced the time needed for identification of Mycobacterium tuberculosis in particular, when compared with traditional culture-based techniques. Molecular methods may also yield antimicrobial susceptibility results through testing for the most common resistance-inducing mutations to some of the antimicrobial agents of choice. However, the diversity of resistance mutations already characterised suggests that these currently-available molecular detection systems should be accompanied by culture-based susceptibility testing. This review compares the efficacy of microscopic, phenotypic, proteomic and genotypic methods available for mycobacterial diagnosis. The diversity of methods currently in use reflects the complexity of this area of diagnostic microbiology.

Multidisciplinary management of thoracic infection, including experts in thoracic surgery, pulmonology, infectious disease, and radiology, is ideal for optimal outcomes. Initial assessment of parapneumonic effusion and empyema requires computed tomographic evaluation and consideration for fluid sampling or drainage. Goals for the treatment of parapneumonic effusion and empyema include drainage of the pleural space and complete lung reexpansion. Pulmonary abscess is often successfully treated with antibiotics and observation. Surgical intervention for the treatment of fungal or tuberculous lung disease should be undertaken by experienced surgeons following multidisciplinary assessment. Sternoclavicular joint infection often requires joint resection., (Copyright © 2014 Elsevier Inc. All rights reserved.)

Nontuberculous mycobacteria may cause central venous catheter-associated bacteremia. Between March 2011 and October 2013, 6 cases of Mycobacterium phocaicum bacteremia were found in the pediatric hematology-oncology department. All patients recovered. No positive blood culture was documented after removal of the central venous catheter. All 4 patients with pulsed field gel electrophoresis had the same pattern, different from the water sample, suggesting a common water source.

The identification of mycobacteria outside biocontainment facilities requires that the organisms first be rendered inactive. Exposure to 70% ethanol (EtOH) either before or after mechanical disruption was evaluated in order to establish a safe, effective, and rapid inactivation protocol that is compatible with identification of Mycobacterium and Nocardia species using matrix-assisted laser desorption ionization-time of flight mass spectrometry (MALDI-TOF MS). A combination of 5 min of bead beating in 70% EtOH followed by a 10-min room temperature incubation period was found to be rapidly bactericidal and provided high-quality spectra compared to spectra obtained directly from growth on solid media. The age of the culture, the stability of the refrigerated or frozen lysates, and freeze-thaw cycles did not adversely impact the quality of the spectra or the identification obtained., (Copyright © 2014, American Society for Microbiology. All Rights Reserved.)

A quantitative real-time PCR (qPCR) followed by high resolution melting (HRM) analysis was developed for the differentiation of Mycobacterium species. Rapid differentiation of Mycobacterium species is necessary for the effective diagnosis and management of tuberculosis. In this study, the 16S rRNA gene was tested as the target since this has been identified as a suitable target for the identification of mycobacteria species. During the temperature gradient and primer optimization process, the melting peak (Tm) analysis was determined at a concentration of 50 ng DNA template and 0.3, 0.4 and 0.5 µM primer. The qPCR assay for the detection of other mycobacterial species was done at the Tm and primer concentration of 62 °C and 0.4 µM, respectively. The HRM analysis generated cluster patterns that were specific and sensitive to distinguished small sequence differences of the Mycobacterium species. This study suggests that the 16S rRNA-based real-time PCR followed by HRM analysis produced unique cluster patterns for species of Mycobacterium and could differentiate the closely related mycobacteria species., (© 2014 The Authors.)

Mycobacteria cause a range of diseases in both immunocompetent and immunosuppressed individuals and may affect many different organs. The most noticeable recent change in patterns of cutaneous mycobacterial infection refers to the increase in non-tuberculous mycobacterial (NTM) infections. This review focuses on the clinical manifestations, diagnosis, and treatment of cutaneous NTM infections. The MEDLINE, PubMed, and Cochrane Library databases were searched using the keywords "non-tuberculous mycobacteria," "atypical mycobacteria," and "mycobacteria other than tubercle bacilli". Publications on cutaneous NTM infections written in English were included in this review. Literature published by the World Health Organization was examined for further material. References in review articles were screened for other studies not already identified. The clinical features, diagnosis, and treatment of NTM infections were reviewed. Cutaneous mycobacterial disease may take many guises and may appear benign in nature. Chronic cutaneous lesions at the sites of trauma or surgical procedures, especially those that fail to respond to standard antibiotic therapy, should prompt the consideration of mycobacterial disease. The lack of rapid techniques for the identification of pathogens makes diagnosis challenging. The lack of randomized controlled trials on the efficacy of antimicrobial agents means that empiric therapy may fail, necessitate prolonged combinations of antibiotics, and increase the probability of side effects and diminished compliance., (© 2014 The International Society of Dermatology.)

Background: Mycobacterial osteomyelitis involving only the epiphysis of a long bone is extremely rare, and its clinical and radiographic features remain unclear. The purpose of this study was to characterize mycobacterial epiphyseal osteomyelitis and to identify differences between its features and those reported for epiphyseal osteomyelitis caused by bacteria or unidentified pathogens., Methods: We retrospectively reviewed the cases of eight children (five males and three females) who presented at a median age of nineteen months (range, twelve to twenty-five months). Clinical findings were compiled. Radiographs and magnetic resonance imaging (MRI) were used to determine local spread of the abscess outside the epiphysis during the disease course. At the time of the latest follow-up evaluation, the presence of limited joint mobility or growth disturbance was determined. Physeal damage was evaluated with use of MRI., Results: Pathogens were identified through multiplex polymerase chain reaction. Mycobacterium bovis bacille Calmette-Guérin (BCG, Tokyo-172 strain) was identified in four patients; Mycobacterium tuberculosis, in three patients; and nontuberculous mycobacterium, in one patient. The lesion was located at the distal femoral epiphysis in six patients, at the proximal tibial epiphysis in one patient, and at the proximal humeral epiphysis in one patient. The abscess was confined to the epiphysis at the time of initial presentation but, over time, extended outside the epiphysis in seven cases. The lesion was initially located in the cartilaginous epiphysis in two patients, which could be diagnosed only on MRI. Seven patients worsened despite surgical drainage and medication, and five required additional surgery. At follow-up at a mean of 4.1 years (range, 1.3 to 7.8 years), focal physeal damage was evident in five patients, and clinical growth disturbance was evident in one patient., Conclusions: In contrast to the reported benign features of epiphyseal osteomyelitis caused by bacteria or unidentified pathogens, mycobacterial epiphyseal osteomyelitis seems to have an unfavorable clinical course that tends to lead to physeal damage. MRI is useful for early diagnosis of a cartilaginous lesion and evaluation of abscess spread and physeal damage., Level of Evidence: Prognostic Level IV. See Instructions for Authors for a complete description of levels of evidence., (Copyright © 2014 by The Journal of Bone and Joint Surgery, Incorporated.)

Objective: To study a cluster of Mycobacterium wolinskyi surgical site infections (SSIs)., Design: Observational and case-control study., Setting: Academic hospital., Patients: Subjects who developed SSIs with M. wolinskyi following cardiothoracic surgery., Methods: Electronic surveillance was performed for case finding as well as electronic medical record review of infected cases. Surgical procedures were observed. Medical chart review was conducted to identify risk factors. A case-control study was performed to identify risk factors for infection; Fisher exact or Kruskal-Wallis tests were used for comparisons of proportions and medians, respectively. Patient isolates were studied using pulsed-field gel electrophoresis (PFGE). Environmental microbiologic sampling was performed in operating rooms, including high-volume water sampling., Results: Six definite cases of M. wolinskyi SSI following cardiothoracic surgery were identified during the outbreak period (October 1, 2008-September 30, 2011). Having cardiac surgery in operating room A was significantly associated with infection (odds ratio, 40; P = .0027). Observational investigation revealed a cold-air blaster exclusive to operating room A as well a microbially contaminated, self-contained water source used in heart-lung machines. The isolates were indistinguishable or closely related by PFGE. No environmental samples were positive for M. wolinskyi., Conclusions: No single point source was established, but 2 potential sources, including a cold-air blaster and a microbially contaminated, self-contained water system used in heart-lung machines for cardiothoracic operations, were identified. Both of these potential sources were removed, and subsequent active surveillance did not reveal any further cases of M. wolinskyi SSI.

Abdominal lymphadenopathy in human immunodeficiency virus (HIV) infection remains a diagnostic challenge. We performed a prospective cohort study by recruiting 31 symptomatic HIV + patients with abdominal lymphadenopathy and assessing the diagnostic yield of endoscopic ultrasound fine-needle aspiration (EUS-FNA). Mean age was 38 years; 52% were female; and mean CD4 count and viral load were 124 cells/μL and 4 log, respectively. EUS confirmed additional mediastinal nodes in 26%. The porta hepatis was the most common abdominal site. Aspirates obtained by EUS-FNA were subjected to cytology, culture and polymerase chain reaction (PCR) analysis. Mycobacterial infections were confirmed in 67.7%, and 31% had reactive lymphadenopathy. Cytology and culture had low sensitivity, whereas PCR identified 90% of mycobacterial infections. By combining the appearance of aspirates obtained by EUS-FNA and cytologic specimens, we developed a diagnostic algorithm to indicate when analysis with PCR would be useful. PCR performed on material obtained by EUS-FNA was highly accurate in confirming mycobacterial disease and determining genotypic drug resistance., (Copyright © 2014 World Federation for Ultrasound in Medicine & Biology. Published by Elsevier Inc. All rights reserved.)

New methodologies were developed for the identification of Nocardia but the initial diagnosis still requires a fast and accurate method, mainly due to the similarity to Mycobacterium, both clinical and bacteriologically. Growth on Löwenstein-Jensen (LJ) medium, presence of acid-fast bacilli through Ziehl-Neelsen staining, and colony morphology can be confusing aspects between Nocardia and Mycobacterium. This study describes the occurrence of Nocardia spp. in a mycobacterial-reference laboratory, observing the main difficulties in differentiating Nocardia spp. from Mycobacterium spp., and correlating isolates with nocardiosis cases. Laboratory records for the period between 2008 and 2012 were analyzed, and the isolates identified as Nocardia sp. or as non-acid-fast filamentous bacilli were selected. Epidemiological and bacteriological data were analyzed as well. Thirty-three isolates identified as Nocardia sp. and 22 as non-acid-fast bacilli were selected for this study, and represented 0.12% of isolates during the study period. The presumptive identification was based on macroscopic and microscopic morphology, resistance to lysozyme and restriction profiles using the PRA-hsp65 method. Nocardia spp. can grow on media for mycobacteria isolation (LJ and BBL MGIT™) and microscopy and colony morphology are very similar to some mycobacteria species. Seventeen patients (54.8%) were reported and treated for tuberculosis, but presented signs and symptoms of nocardiosis. It was concluded that the occurrence of Nocardia sp. during the study period was 0.12%. Isolates with characteristics of filamentous bacilli, forming aerial hyphae, with colonies that may be pigmented, rough and without the BstEII digestion pattern in PRA-hsp65 method are suggestive of Nocardia spp. For a mycobacterial routine laboratory, a flow for the presumptive identification of Nocardia is essential, allowing the use of more accurate techniques for the correct identification, proper treatment and better quality of life for patients.

We report a case of chiasmitis caused by a rare nontuberculous mycobacterium in an immunocompromised patient. A 44-year-old man with a history of AIDS presented with recurrent vision loss and headache. Magnetic resonance imaging (MRI) demonstrated an enhancing mass involving the optic chiasm. Histopathologic and microbiological evaluation revealed infection with Mycobacterium haemophilum. While combination antimicrobial and steroid therapy contributed to improvement in his vision, the patient's symptoms recurred. Follow-up MRI showed extension of infection to the hypothalamus and leptomeninges, indicative of basilar meningitis. MRI is a valuable tool for early diagnosis of chiasmitis as well as for monitoring infection progression and treatment response., (Copyright © 2014. Published by Elsevier Inc.)

Mycobacterium celatum is a rare cause of human infection, causing disseminated disease in immunosuppressed individuals. Infections localized to the lungs and the lymph nodes have also been reported in immunocompetent individuals. The existing literature on the subject is limited as are experiences with treatment regimens and durations. In the case presented herein, two different treatment regimens were applied to an immunocompromised HIV-negative patient with primary skin involvement and extensive pulmonary involvement due to suspected relapse on isoniazid, ethambutol, and clarithromycin treatment. The treatment regimen was changed to azithromycin, ciprofloxacin, and pyrazinamide and the treatment duration was prolonged to a total of 24 months, with good effect., (Copyright © 2014 The Authors. Published by Elsevier Ltd.. All rights reserved.)

Introduction: Granulomatous cervicofacial lymphadenitis (GCL) is not uncommon in children. Nontuberculous mycobacteria (NTM) seem to be the predominant cause. We sought to study the clinical and microbiological profile of patients with GCL, and identify features that may impact outcome., Methods: Children aged < 16 years who presented to KK Women's and Children's Hospital, Singapore, between January 1998 and December 2006, and who had GCL were identified from laboratory records. Clinical and laboratory data was collected and analysed for risk factors for patients with positive lymph node cultures, and for patients with and without recurrence after treatment., Results: In all, 60 children were identified, with a median age of 56 (interquartile range [IQR] 34-101) months. Median duration of symptoms before presentation was 5 (IQR 4-8) weeks. The majority presented with single (73.3%) or unilateral (96.7%) lymphadenopathy, located in the submandibular, preauricular/parotid or infra-/post-auricular region (76.7%). Out of 51 patients, 26 (51.0%) had a tuberculin skin test reading of ≥ 10 mm. Out of 52 patients, 10 (19.2%) had positive mycobacterial cultures, which included seven isolates of NTM. Out of 34 cases, tuberculous polymerase chain reaction was positive in 11 (32.4%). With regard to recurrence after initial treatment, age < 5 years at presentation was found to be a predictor for recurrence (p = 0.008), while initial complete excision of affected nodes predicted no recurrence (p = 0.003)., Conclusion: In our study, younger age was noted to be associated with a higher chance of recurrence, while complete excision of the involved node at initial presentation predicted non-recurrence.

Mycobacteria of feline importance include (1) obligate pathogens (tuberculosis), (2) mycobacteria that are difficult to grow, so the environmental niche is unknown (feline leprosy syndrome), and (3) facultative pathogenic opportunistic saprophytes (non-tuberculous mycobacteriosis). Most cats present with cutaneous disease, although some have systemic involvement. Diagnosis is challenging because there are no pathognomonic histopathological changes and many mycobacteria fail to culture, so molecular diagnostics are required. Treatment can involve extended multidrug therapy and prognosis is variable. This article reviews the microbiology, clinical diagnosis, management and prognosis of feline mycobacterial infections., (Copyright © 2014 Elsevier Ltd. All rights reserved.)

A long-term research programme has been underway in Ireland to evaluate the usefulness of badger vaccination as part of the national bTB (bovine tuberculosis) control strategy. This culminated in a field trial which commenced in county Kilkenny in 2009 to determine the effects of badger vaccination on Mycobacterium bovis transmission in badgers under field conditions. In the present study, we sought to optimise the characteristics of a multiplex chemiluminescent assay for detection of M. bovis infection in live badgers. Our goal was to maximise specificity, and therefore statistical power, during evaluation of the badger vaccine trial data. In addition, we also aimed to explore the effects of vaccination on test characteristics. For the test optimisation, we ran a stepwise logistic regression with analytical weights on the converted Relative Light Units (RLU) obtained from testing blood samples from 215 badgers captured as part of culling operations by the national Department of Agriculture, Food and the Marine (DAFM). The optimised test was applied to two other datasets obtained from two captive badger studies (Study 1 and Study 2), and the sensitivity and specificity of the test was attained separately for vaccinated and non-vaccinated badgers. During optimisation, test sensitivity was maximised (30.77%), while retaining specificity at 99.99%. When the optimised test was then applied to the captive badger studies data, we observed that test characteristics did not vary greatly between vaccinated and non-vaccinated badgers. However, a different time lag between infection and a positive test result was observed in vaccinated and non-vaccinated badgers. We propose that the optimized multiplex immunoassay be used to analyse the vaccine trial data. In relation to the difference in the time lag observed for vaccinated and non-vaccinated badgers, we also present a strategy to enable the test to be used during trial evaluation.

Broth culture is a standard method for detection of acid-fast bacteria (AFB) (e.g., Mycobacterium and Nocardia) from patient specimens. Direct nucleic acid-based identification from smear-positive broths expedites the infectious disease diagnosis. We developed and evaluated the performance of a pyrogram-based technique (direct-broth-pyrosequencing [DBP]) to identify AFB directly from smear-positive broths. One hundred thirteen AFB-positive broths from patient specimens were tested. Bacterial DNA was amplified by polymerase chain reaction and sequenced using the PyroMark ID system. The DBP method correctly identified the AFB species/group in 109 (97%) of the 113 broths, including 15 Mycobacterium species and 4 Nocardia species. Three broths that yielded indeterminate results were found to be AFB-AFB mixed broths and required purified colonies on solid media for definite identification. The 4th broth was repeatedly identified by sequencing to be Mycobacterium intracellulare, even though the organism was not isolated and the AccuProbe was negative. This method did not identify the AFB organisms from broths containing 2 AFB organisms, but did not produce false identification. No cross-reaction was observed when AFB-positive broths were spiked with non-AFB microorganisms, indicating that the DBP method was specific to AFB. The DBP method gives rapid (within 8 h), accurate AFB identification directly from broth cultures and provides another useful AFB identification tool in a clinical laboratory., (Copyright © 2014 Elsevier Inc. All rights reserved.)

Background: Bacterial infection is a well-known risk of breast implant surgery. It is typically caused by bacterial skin flora, specifically Staphylococcus aureus and the coagulase negative staphylococci. There have been infrequent reports of breast implant infection caused by the atypical mycobacteria, of which Mycobacterium canariasense not yet reported in the literature., Case Presentation: This report summarizes the case of a female patient who underwent mastectomy followed by bilateral breast augmentation and presented approximately three years later with clinical evidence of infected breast prosthesis by Mycobacterium canariasense. One year after thoroughly follow-up, appropriate antibiotherapy and the change of the infected prosthesis, the patient presented no signs of reinfection., Conclusion: Our case demonstrates that Mycobacterium canariasense should be considered as a new potential cause of infected breast prosthesis.

Objective: To analyze the clinical manifestation of interferon gamma receptor 1 deficiency (IFN-γR1 deficiency) and to improve the recognition of this disease in children, decrease diagnostic errors and missed diagnosis., Method: The information of one case with IFN-γR1 deficiency (past history of illness, clinical manifestation, laboratory examination and treatment) were analyzed., Result: The patient was a 19-month-old girl with IFN-γR1 deficiency, 1-2 weeks after she was vaccinated with BCG at the age of 18 months, she manifested with lymph nodes at the same site as vaccination site, and repeated rash. Examination found a mass in the right armpit, the size was 3 cm × 3 cm, protruded on the skin, tenacious in nature, poorly mobile. B-mode ultrasound showed right armpit chest heterogeneous hypoechoic mass; abdominal B-mode ultrasound showed pancreatic lymph nodes around the abdominal aorta and mild swelling; chest X-ray showed right axillary lymph nodes, increased double markings. Initial diagnosis was (1) bronchitis, (2) BCG vaccination reaction, (3) Sepsis? . After admission, the patient was given rifampicin + isoniazid + latamoxef + amoxicillin and clavulanate potassium, and then changed to meropenem and Fusidic acid, but treatment showed no improvement. After adding the treatment with anti-inflammatory treatment, i.e., gamma globulin and methylprednisolone, the fever subsided. Conventional treatment with rifampicin + isoniazid 3 months after discharge from hospital were effective, and the axillary lymph nodes were not palpable. Six months after BCG vaccination bone tuberculosis occurred. CT of left hip and left knee showed bilateral hip joint effusion, left distal femur and left proximal tibia bone destruction. Gene detection showed the presence of homozygous IFNγ-R1 gene mutation of c.114&#95;135del(p.E38fsX54). Her parents are consanguinity, both were carriers. In the literature, 99 cases with IFN-γR1 deficiency were reported, 95% of the cases had disseminated tuberculosis, and in 60 cases the dissemination occurred after BCG vaccination., Conclusion: IFN-γR1 is an extremely rare disease in children. If disseminated tuberculosis infection occured, especially after BCG vaccination, or if there were focal/multifocal bone tuberculosis, immune function with conventional detection is considered normal, then IFN-γR1 deficiency should be considered, and early genetic testing for confirming the diagnosis and selecting the appropriate treatment are needed.

Requests for direct molecular diagnosis of mycobacterial disease are increasingly warranted. The Anyplex MTB/NTM assay demonstrates sensitivities, specificities, and positive and negative predictive values of 1.00, 0.96, 0.93, and 1.00 for Mycobacterium tuberculosis complex (MTBC) and 1.00, 0.97, 0.75, and 1.00 for nontuberculous mycobacteria (NTM) detection, respectively, making it a suitable screening test for mycobacterial detection.

Mycobacterium neoaurum is rapidly growing mycobacteria that can cause human infections. It commonly causes bloodstream infections in immunocompromised hosts, and unlike other mycobacteria species, it rarely causes pulmonary infections. We confirmed the first pulmonary infection case in Korea caused by M. neoaurum using full-length 16S rRNA gene sequencing.

There are few commercial assays that easily and correctly identify the mycobacteria from culture in a clinical laboratory with a high workload. Thus, we developed and evaluated a scheme for the identification of mycobacteria using a multiplex real-time PCR assay and report on its application in our laboratory. The scheme consisted of 3 stepwise PCRs. Mycobacterium tuberculosis complex (MTC) and nontuberculous mycobacteria (NTM) were differentially detected in the step 1 PCR, and the NTM species were identified in the step 2 and 3 PCRs. Over the 1.5-year study period, 1136 isolates of MTC and 618 isolates of NTM were detected, and the species of 608 (98.4%) of the 618 NTM isolates were identified. We conclude that the established scheme is a very useful diagnostic approach for the rapid and accurate identification of MTC and clinically relevant NTM in a clinical laboratory in a region where tuberculosis is endemic., (Copyright © 2014 Elsevier Inc. All rights reserved.)

Rapid-growing mycobacteria (e.g. M. abscessus and M. chelonae) are emerging pathogens with various clinical manifestations. Among immunocompetent individuals, rapid-growing mycobacteria may be responsible of pulmonary, cutaneous, osteoarticular and postoperative infections, as well as lymphadenitis and catheter-associated infections. Among immunocompromised patients, disseminated infections are also observed. Diagnosis relies on specific microbiological investigations to confirm etiology and guide antibiotic treatment. The treatment requires a multi-disciplinary approach that includes specific long-term antibiotic treatment, surgical debridement and reduction of immunosuppression whenever possible.

Mycobacterium haemophilum is a rare isolate of non-tuberculous Mycobacterium which has been reported to affect immunocompromised patients. We report a case of a 32-year-old renal transplant patient with M.  haemophilum infection initially involving his left sinus which was treated with appropriate antimicrobial therapy for thirteen months. Two weeks after cessation of antibiotics the infection rapidly recurred in his skin and soft tissues of his hands and feet. This case highlights the difficult diagnostic and therapeutic implications of atypical infections in transplant patients. To our knowledge this is the first reported case of relapsed M.  haemophilum infection in a renal transplant recipient., (© 2014 Asian Pacific Society of Nephrology.)

Mycobacterium chelonae is a rapidly growing mycobacterium that is found all over the environment, including sewage and tap water. They are important species associated with chronic non-healing wounds. We report a case in a 41 year old female patient who underwent multiple surgeries for an ovarian cyst, tubo-ovarian abscesses with peritonitis and a repair of an abdominal incisional hernia.

We present the case of a native Texan who was diagnosed with tuberculoid leprosy and later developed a cutaneous infection with M. haemophilum following iatrogenic immunosuppression. To our knowledge, there are no such reports of M. haemophilum and M. leprae infection occurring simultaneously in the same host., (© 2014.)

Mycobacterium conceptionense is a species member of Mycobacterium fortuitum complex, a potential pathogen of increasing clinical importance among opportunistic infections. This species causes a wide spectrum of cutaneous and extracutaneous diseases. In this report, we describe three patients who underwent shoulder surgery with postoperative joint infection by M. conceptionense.

Background: The clinical presentation of Gaucher disease (GD), an inherited lysosomal storage disorder caused by the deficient activity of the lysosomal enzyme glucocerebrosidase, is highly variable, and three clinical types are distinguished based upon the presence of neurologic symptoms. Thrombocytopenia, anemia, hepatosplenomegaly, and bone manifestations are the most typical signs of GD type 1 (GD1)., Case Presentation: We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycobacterium avium. Despite long-lasting therapy of both aspergillosis (including antifungal drugs and surgery), and the mycobacterial infection (triple therapy with rifampicin, ethambutol, and clarithromycin), recurrent positivity for M. avium and A. fumigatus was detected., Conclusions: Symptomatic lung involvement and an increased susceptibility to pulmonary infections are uncommon in GD and, if present, are often associated with more severe disease manifestations. To our knowledge, this is the first published report on the association of GD and pulmonary aspergillosis and mycobacterial infection. It illustrates the increased susceptibility of untreated GD patients to opportunistic pulmonary infections and ineffective eradication of these infections despite adequate therapy.

Introduction: In pediatric population Fine-Needle Aspiration Citology (FNAC) is slowly gaining acceptance in clinical management of Superficial Lymphadenopathy (SL). Our experience adds some data about the usefulness of this technique in diagnosing the cause of a SL and therefore guiding further treatment., Patients and Methods: 238 FNAC were performed in 217 patients with SL, observed at our Institution from 2002 to 2006. The neck was the most frequent localization. The results were available within few hours. In cases of granulomatous findings, the samples were processed for microbiological and PCR test, in order to identify Mycobacteria., Results: 174 were reactive lesions, 38 granulomatous lymphadenopathies, 24 malignant lesions, 2 specimens inadequate for diagnosis. Among the 174 reactive SL, 22 required an incisional biopsy after 1 month follow-up. Among the granulomatous lymphadenopathies, 13 children with Cat-Scratch Disease recovered, 25 with Mycobacteria infection underwent surgical excision. For 24 malignant lesions, the diagnosis was confirmed by further biopsy. Two false negative and no false positive were detected (sensitivity 92%, specificity 100%). No complications were encountered., Conclusions: In our experience FNAC, performed by experienced cytopathologist, has revealed to be a fast, safe, non invasive and inexpensive method to achieve diagnosis in persistent SL. The use of FNAC gave us the possibility to select patients for further investigation and/or surgical treatment. Incisional biopsy remains necessary to confirm the diagnosis in case of malignancy or doubtful lesions.

Mycobacterium neoaurum is a rare cause of bacteremia, and infection usually occurs in an immunocompromised host in the setting of an indwelling catheter. Prosthetic valve endocarditis due to non-tuberculous mycobacteria typically carries a dismal prognosis; we report a case of M. neoaurum prosthetic valve endocarditis with favorable response to antimicrobial therapy without surgical intervention., (Copyright © 2013 Elsevier Editora Ltda. All rights reserved.)

Three recently sequenced strains isolated from patients during an outbreak of Mycobacterium abscessus subsp. massiliense infections at a cystic fibrosis center in the United States were compared with 6 strains from an outbreak at a cystic fibrosis center in the United Kingdom and worldwide strains. Strains from the 2 cystic fibrosis outbreaks showed high-level relatedness with each other and major-level relatedness with strains that caused soft tissue infections during an epidemic in Brazil. We identified unique single-nucleotide polymorphisms in cystic fibrosis and soft tissue outbreak strains, separate single-nucleotide polymorphisms only in cystic fibrosis outbreak strains, and unique genomic traits for each subset of isolates. Our findings highlight the necessity of identifying M. abscessus to the subspecies level and screening all cystic fibrosis isolates for relatedness to these outbreak strains. We propose 2 diagnostic strategies that use partial sequencing of rpoB and secA1 genes and a multilocus sequence typing protocol.

We validated a commercial (Idexx Pourquier, Montpellier, France) serum and milk indirect ELISA that detects antibodies against Mycobacterium avium ssp. paratuberculosis (MAP) in Greek dairy goats. Each goat was sampled 4 times, starting from kidding and covering early, mid, and late lactation. A total of 1,268 paired milk (or colostrum) and serum samples were collected during the 7-mo lactation period. Bayesian latent class models, which allow for the continuous interpretation of test results, were used to derive the distribution of the serum and milk ELISA response for healthy and MAP-infected individuals at each lactation stage. Both serum and milk ELISA, in all lactation stages, had average and similar overall discriminatory ability as measured by the area under the curve (AUC). For each test, the smallest overlap between the distribution of the healthy and MAP-infected does was in late lactation. At this stage, the AUC was 0.89 (95% credible interval: 0.70; 0.98) and 0.92 (0.74; 0.99) for the milk and serum ELISA, respectively. Both tests had comparable sensitivities and specificities at the recommended cutoffs across lactation. Lowering the cutoffs led to an increase in sensitivity without serious loss in specificity. In conclusion, the milk ELISA was as accurate as the serum ELISA. Therefore, it could serve as the diagnostic tool of choice, especially during the implementation of MAP control programs that require frequent testing, because milk sampling is a noninvasive, rapid, and easy process., (Copyright © 2014 American Dairy Science Association. Published by Elsevier Inc. All rights reserved.)

We describe a case of sacroiliitis secondary to catheter-related bacteremia due to Mycobacterium abscessus (sensu stricto). This case confirms that MultiLocus sequence typing and variable-number tandem-repeat methods are very robust techniques to identify the pathogen species and to validate molecular epidemiological links among complex M. abscessus isolates.