Background: Several novel molecular platforms using nucleic acid amplification tests have been developed for the diagnosis of pulmonary tuberculosis (PTB) and rapid detection of isoniazid and rifampin resistance. Among them, the BD MAX MDR-TB assay (BD MAX) has shown high sensitivity and specificity; however, its diagnostic accuracy performed on bronchoscopy specimens has not been reported. Methods: We retrospectively reviewed the medical records of patients with suspected PTB who underwent bronchoscopy. Patients who underwent BD MAX testing of bronchoscopy specimens were included in the final analysis. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) for PTB diagnosis were calculated using a positive culture of Mycobacterium tuberculosis as the reference standard. Results: Of 114 patients, 34 had culture-confirmed PTB. The sensitivity, specificity, PPV, and NPV of BD MAX performed on bronchoscopy specimens for the diagnosis of PTB were 79.4%, 88.8%, 75.0%, and 91.0%, respectively. The sensitivity of BD MAX was superior to that of acid-fast bacillus smear (79.4% vs. 38.2%, p<0.001). Conclusion BD MAX performed on bronchoscopy specimens showed high accuracy for diagnosing PTB. BD MAX can be performed on bronchoscopy specimens in patients with suspected PTB.

Background: Several novel molecular platforms using nucleic acid amplification tests have been developed for the diagnosis of pulmonary tuberculosis (PTB) and rapid detection of isoniazid and rifampin resistance. Among them, the BD MAX MDR-TB assay (BD MAX) has shown high sensitivity and specificity; however, its diagnostic accuracy performed on bronchoscopy specimens has not been reported. Methods: We retrospectively reviewed the medical records of patients with suspected PTB who underwent bronchoscopy. Patients who underwent BD MAX testing of bronchoscopy specimens were included in the final analysis. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) for PTB diagnosis were calculated using a positive culture of Mycobacterium tuberculosis as the reference standard. Results: Of 114 patients, 34 had culture-confirmed PTB. The sensitivity, specificity, PPV, and NPV of BD MAX performed on bronchoscopy specimens for the diagnosis of PTB were 79.4%, 88.8%, 75.0%, and 91.0%, respectively. The sensitivity of BD MAX was superior to that of acid-fast bacillus smear (79.4% vs. 38.2%, p<0.001). Conclusion BD MAX performed on bronchoscopy specimens showed high accuracy for diagnosing PTB. BD MAX can be performed on bronchoscopy specimens in patients with suspected PTB.

Background: Several novel molecular platforms using nucleic acid amplification tests have been developed for the diagnosis of pulmonary tuberculosis (PTB) and rapid detection of isoniazid and rifampin resistance. Among them, the BD MAX MDR-TB assay (BD MAX) has shown high sensitivity and specificity; however, its diagnostic accuracy performed on bronchoscopy specimens has not been reported. Methods: We retrospectively reviewed the medical records of patients with suspected PTB who underwent bronchoscopy. Patients who underwent BD MAX testing of bronchoscopy specimens were included in the final analysis. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) for PTB diagnosis were calculated using a positive culture of Mycobacterium tuberculosis as the reference standard. Results: Of 114 patients, 34 had culture-confirmed PTB. The sensitivity, specificity, PPV, and NPV of BD MAX performed on bronchoscopy specimens for the diagnosis of PTB were 79.4%, 88.8%, 75.0%, and 91.0%, respectively. The sensitivity of BD MAX was superior to that of acid-fast bacillus smear (79.4% vs. 38.2%, p<0.001). Conclusion BD MAX performed on bronchoscopy specimens showed high accuracy for diagnosing PTB. BD MAX can be performed on bronchoscopy specimens in patients with suspected PTB.

Background: Several novel molecular platforms using nucleic acid amplification tests have been developed for the diagnosis of pulmonary tuberculosis (PTB) and rapid detection of isoniazid and rifampin resistance. Among them, the BD MAX MDR-TB assay (BD MAX) has shown high sensitivity and specificity; however, its diagnostic accuracy performed on bronchoscopy specimens has not been reported. Methods: We retrospectively reviewed the medical records of patients with suspected PTB who underwent bronchoscopy. Patients who underwent BD MAX testing of bronchoscopy specimens were included in the final analysis. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) for PTB diagnosis were calculated using a positive culture of Mycobacterium tuberculosis as the reference standard. Results: Of 114 patients, 34 had culture-confirmed PTB. The sensitivity, specificity, PPV, and NPV of BD MAX performed on bronchoscopy specimens for the diagnosis of PTB were 79.4%, 88.8%, 75.0%, and 91.0%, respectively. The sensitivity of BD MAX was superior to that of acid-fast bacillus smear (79.4% vs. 38.2%, p<0.001). Conclusion BD MAX performed on bronchoscopy specimens showed high accuracy for diagnosing PTB. BD MAX can be performed on bronchoscopy specimens in patients with suspected PTB.

Background: Several novel molecular platforms using nucleic acid amplification tests have been developed for the diagnosis of pulmonary tuberculosis (PTB) and rapid detection of isoniazid and rifampin resistance. Among them, the BD MAX MDR-TB assay (BD MAX) has shown high sensitivity and specificity; however, its diagnostic accuracy performed on bronchoscopy specimens has not been reported. Methods: We retrospectively reviewed the medical records of patients with suspected PTB who underwent bronchoscopy. Patients who underwent BD MAX testing of bronchoscopy specimens were included in the final analysis. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) for PTB diagnosis were calculated using a positive culture of Mycobacterium tuberculosis as the reference standard. Results: Of 114 patients, 34 had culture-confirmed PTB. The sensitivity, specificity, PPV, and NPV of BD MAX performed on bronchoscopy specimens for the diagnosis of PTB were 79.4%, 88.8%, 75.0%, and 91.0%, respectively. The sensitivity of BD MAX was superior to that of acid-fast bacillus smear (79.4% vs. 38.2%, p<0.001). Conclusion BD MAX performed on bronchoscopy specimens showed high accuracy for diagnosing PTB. BD MAX can be performed on bronchoscopy specimens in patients with suspected PTB.

Background: Missing isoniazid (INH) resistance during tuberculosis (TB) diagnosis can worsen the outcomes of INH-resistant TB. The BD MAX MDR-TB assay (BD MAX) facilitates the rapid detection of TB and INH and rifampin (RIF) resistance; however, data related to its performance in clinical setting remain limited. Moreover, its effect on treatment outcomes has not yet been studied. Methods: We compared the performance of BD MAX for the detection of INH/RIF resistances to that of the line probe assay (LPA) in patients with pulmonary TB (PTB), using the results of a phenotypic drug sensitivity test as a reference standard. The treatment outcomes of patients who used BD MAX were compared with those of patients who did not. Results: Of the 83 patients included in the study, the BD MAX was used for an initial PTB diagnosis in 39 patients. The sensitivity of BD MAX for detecting PTB was 79.5%. The sensitivity and specificity of BD MAX for INH resistance were both 100%, whereas these were 50.0% and 95.8%, respectively, for RIF resistance. The sensitivity and specificity of BD MAX were comparable to those of LPA. The BD MAX group had a shorter time interval from specimen request to the initiation of anti-TB drugs (2.0 days vs. 5.5 days, p=0.001). Conclusion BD MAX showed comparable performance to conventional tests for detecting PTB and INH/RIF resistances. The implementation of BD MAX as a diagnostic tool for PTB resulted in a shorter turnaround time for the initiation of PTB treatment.

Background: Airborne particulate matter (PM), a widespread air contaminant, is a complex mixture of solids and aerosols composed of particles suspended in the air. PM is associated with inflammatory responses and may worsen inflammatory skin diseases. However, the mechanisms through which PM affects atopic dermatitis (AD) remain unclear. Objective: To establish an In Vitro model that more accurately mimics AD using human keratinocyte (HaCaT), dermal fibroblast (HDF), and mast cell (HMC-1) and using this model to investigate the mechanism through which PMs affect AD. Methods: An AD-like In Vitro model was established by seeding HaCaT, HDF, and HMC-1 cells with recombinant human interleukin (IL)-1α and polyinosinic:polycytidylic acid.We confirmed the effect of PM on the inflammatory cytokine expression of a triple-cell culture model. SRM 1649b Urban Dust, which is mainly composed of polycyclic aromatic hydrocarbons, was used as the reference PM. The effects of PM on the expression levels of proinflammatory cytokines and skin barrier markers were assessed using quantitative real-time polymerase chain reaction and western blotting. Inflammatory cytokine levels were measured using an enzyme-linked immunosorbent assay. Results: Interactions between various skin cell types were evaluated using a co-culture system. PM treatment increased mRNA and protein levels of the inflammatory cytokines IL-6, IL-1α, tumor necrosis factor-α, IL-4, and IL-1β and decreased the expression of the skin barrier markers filaggrin and loricrin. Conclusion Our results suggest that an In Vitro triple-cell culture model using HaCaT, HDF, and HMC-1 cells may be reliable for obtaining more physiological, functional, and reproducible data on AD and skin barriers.

Chronic spontaneous urticaria (CSU) is defined as the occurrence of spontaneous wheals, angioedema, or both for >6 weeks in the absence of specific causes. It is a common condition associated with substantial disease burden both for affected individuals and societies in many countries, including Korea. CSU frequently persists for several years and requires high-intensity treatment; therefore, patients experience deteriorations in quality of life and medication-associated complications. During the last decade, there have been major advances in the pharmacological treatment of CSU and there is an outstanding need for evidence-based guidelines that reflect clinical practice in Korea. The guidelines reported here represent a joint initiative of the Korean Academy of Asthma, Allergy and Clinical Immunology and the Korean Dermatological Association, and aim to provide evidence-based guidance for the management of CSU in Korean adults and children. In Part 1, disease definition, guideline scope and development methodology as well as evidence-based recommendations on the use of antihistamines and corticosteroids are summarized.

Chronic spontaneous urticaria (CSU) is defined as the occurrence of spontaneous wheals, angioedema, or both for >6 weeks in the absence of specific causes. It is a common condition associated with substantial disease burden both for affected individuals and societies in many countries, including Korea. CSU frequently persists for several years and requires high-intensity treatment; therefore, patients experience deteriorations in quality of life and medication-associated complications. During the last decade, there have been major advances in the pharmacological treatment of CSU and there is an outstanding need for evidence-based guidelines that reflect clinical practice in Korea. The guidelines reported here represent a joint initiative of the Korean Academy of Asthma, Allergy and Clinical Immunology and the Korean Dermatological Association, and aim to provide evidence-based guidance for the management of CSU in Korean adults and children. In Part 1, disease definition, guideline scope and development methodology as well as evidence-based recommendations on the use of antihistamines and corticosteroids are summarized.

Joubert syndrome and Joubert syndrome-related disorders (JSRDs) are rare autosomal recessive or X-linked disorders characterized by cerebellar vermis hypoplasia and a brain stem malformation, which presents as the “molar tooth sign” in magnetic resonance imaging (MRI). JSRDs are a group of clinically heterogeneous conditions that exhibit neurological manifestations and multiple organ involvement. JSRDs are also genetically heterogeneous, and approximately 20 causative genes that account for 45% of JSRDs have been identified. A 7-yr-old boy visited Wonkwang University Sanbon Hospital with the following presentations: no ocular fixation, ataxia, growth retardation, and hypotonia. Physical examination revealed facial dysmorphism, spindle shaped fingers, and height (99 cm) and weight (13 kg) below the third percentile. Ophthalmic examination revealed retinal dystrophy. A diagnosis of JSRDs was made based on clinical and brain MRI findings. We found two heterozygous variants c.2945 G>T; p.Arg982Met (G>T) and c.2216dupA; p.Phe740Valfs*2 (dupA) in AHI1, and a heterozygous c.3973C>T; p.Arg1325Trp (C>T) variant in KIF7 by whole exome sequencing (WES). Genetic analysis on the proband's father revealed that he had both AHI1 variants, but did not have the KIF7 variant, which was inconsistent with autosomal recessive inheritance. Therefore, the G>T variant and C>T variant were presumed to be of “uncertain significance.” Furthermore, one novel dupA variant was interpreted as “pathogenic,” while the second allele was not detected. Caution should be exercised while interpreting the significance of variants detected by WES. In addition, the involvement of genes other than the 20 known ones will require further investigation to elucidate the pathogenesis of JSRDs.
Alleles ; Ataxia ; Brain ; Brain Stem ; Cerebellar Vermis ; Child* ; Diagnosis ; Exome* ; Fathers ; Fingers ; Fixation, Ocular ; Humans ; Magnetic Resonance Imaging ; Male ; Muscle Hypotonia ; Neurologic Manifestations ; Physical Examination ; Retinal Dystrophies ; Tooth ; Wills