1.Clinical Implications of Single Nucleotide Polymorphisms in Diagnosis of Asthma and its Subtypes.
Jong Sook PARK ; Ji Hye SON ; Choon Sik PARK ; Hun Soo CHANG
Yonsei Medical Journal 2019;60(1):1-9
For the past three decades, a large number of genetic studies have been performed to examine genetic variants associated with asthma and its subtypes in hopes of gaining better understanding of the mechanisms underlying disease pathology and to identify genetic biomarkers predictive of disease outcomes. Various methods have been used to achieve these objectives, including linkage analysis, candidate gene polymorphism analysis, and genome-wide association studies (GWAS); however, the degree to which genetic variants contribute to asthma pathogenesis has proven to be much less significant than originally expected. Subsequent application of GWAS to well-defined phenotypes, such as occupational asthma and non-steroidal anti-inflammatory drugexacerbated respiratory diseases, has overcome some of these limitations, although with only partial success. Recently, a combinatorial analysis of single nucleotide polymorphisms (SNPs) identified by GWAS has been used to develop sets of genetic markers able to more accurately stratify asthma subtypes. In this review, we discuss the implications of the identified SNPs in diagnosis of asthma and its subtypes and the progress being made in combinatorial analysis of genetic variants.
Anti-Inflammatory Agents, Non-Steroidal
;
Aspirin
;
Asthma*
;
Asthma, Occupational
;
Biomarkers
;
Diagnosis*
;
Genetic Association Studies
;
Genetic Markers
;
Genetic Techniques
;
Genome-Wide Association Study
;
Hope
;
Pathology
;
Phenotype
;
Polymorphism, Single Nucleotide*
2.Infrared thermal imaging-based research on the intermediate structures of the lung and large intestine exterior-interior relationship in asthma patients.
Yu FU ; Jin-Xia NI ; Federico MARMORI ; Qi ZHU ; Cheng TAN ; Ji-Ping ZHAO
Chinese journal of integrative medicine 2016;22(11):855-860
OBJECTIVEBy observing body surface temperature variation of the intermediate structures of the Lung (Fei) and Large Intestine (Dachang) exterior-interior relationship in asthmatic patients, to investigate the pathological response on the pathway of channels and to substantiate the objective existence of the intermediary structures.
METHODSThe study included 60 subjects meeting the bronchial asthma inclusion criteria (experimental group) and 60 healthy subjects (normal control group). ATIR-M301 infrared thermal imaging device was used for detecting body surface temperature of the subjects and collecting the infrared thermal images. The temperature values of the intermediate structures of Lung and Large Intestine exterior-interior relationship [throat, Quepen, elbow, nose, Lieque (LU 7), Pianli (LI 6)], control areas (0.2 cm lateral to the above structures) and Yintang (EX-HN 3) were measured on the infrared thermal image by infrared imaging system. Then, the above temperature values were compared and analyzed within and between two groups.
RESULTSThere were insignificant differences between the temperature on the left and right sides of the intermediate structures (Quepen, elbow, LU 7, LI 6) in normal control group (P>0.05). Except for that of Quepen, there were insignifificant differences between the temperature of the intermediate structures and their corresponding control areas in normal control group (P>0.05). In the experimental group, the temperature on the left and right sides of the intermediate structures (Quepen, elbow, LU 7, LI 6) showed statistically signifificant differences (P<0.05 or P<0.01); the temperature difference between intermediate structure (throat, Quepen, elbow, nose, LI 6) and their respective control areas were also significant (P<0.05 or P<0.01). The temperature of the intermediate structures (throat, Quepen, elbow, LU7, LI 6) between the experimental group and normal control group showed signifificant differences (P<0.05 or P<0.01).
CONCLUSIONSThis study is an initial step to validate the objective existence of Lung and Large Intestine exterior-interior relationship intermediate structures, as described in the Chinese classical medical literatures, through the functional imaging angle. The intermediate structures are the pathological reaction areas of the bronchial asthmatic patients.
Asthma ; diagnosis ; pathology ; Biomedical Research ; Case-Control Studies ; Diagnostic Imaging ; Female ; Humans ; Infrared Rays ; Intestine, Large ; pathology ; Lung ; pathology ; Male ; Middle Aged ; Temperature ; Thermography ; methods
3.Radiological and Clinical Features of Eosinophilic Granulomatosis with Polyangiitis.
Xiao-Li XU ; Wei SONG ; Xin SUI ; Lan SONG ; Qian-Ni DU ; Xiao WANG
Acta Academiae Medicinae Sinicae 2016;38(5):617-620
Eosinophilic granulomatosis with polyangiitis(EGPA),also known as Churg-Strauss syndrome,is a clinically rare small-vessel vasculitis associated with antineutrophil cytoplasmic antibodies (ANCAs) and the hypereosinophilic syndromes (HESs),characterized by asthma,disseminated necrotizing vasculitis,extravascular granulomas,peripheral eosinophilia,and tissue eosinophilia. This article reviews the pathology,imaging,and clinical features of EGPA.
Antibodies, Antineutrophil Cytoplasmic
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Asthma
;
Churg-Strauss Syndrome
;
diagnosis
;
pathology
;
Eosinophilia
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Granulomatosis with Polyangiitis
;
diagnosis
;
pathology
;
Humans
4.A Case of IgG4-Related Disease with Bronchial Asthma and Chronic Rhinosinusitis in Korea.
Young Soo LEE ; Hyo Jeong CHO ; Hye Soo YOO ; Yoo Sub SHIN ; Hae Sim PARK
Journal of Korean Medical Science 2014;29(4):599-603
IgG4-related disease (IgG4-RD) is characterized by a systemic involvement of tumor-like lesions with IgG4-positive plasmacytes. We experienced a case of IgG4-RD developed in a patient with bronchial asthma (BA) and chronic rhinosinusitis (CRS). A 55-yr-old female patient with BA and CRS complained of both eyes and neck swelling as well as a recurrent upper respiratory infection in recent 1 yr. The serum levels of IgG4, creatinine, and pancreatic enzymes were elevated. A biopsy of the submandibular gland showed an abundant infiltration of IgG4-positive plasmacytes. Her symptoms remarkably improved after the treatment of a systemic steroid that has been maintained without recurrence. We report a rare case of IgG4-RD developed in a patient with BA and CRS.
Asthma/complications/*diagnosis
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Chronic Disease
;
Creatinine/blood
;
Female
;
Humans
;
Immunoglobulin G/*blood
;
Middle Aged
;
Pancreas/enzymology
;
Plasma Cells/physiology
;
Prednisolone/therapeutic use
;
Republic of Korea
;
Rhinitis/complications/*diagnosis/drug therapy
;
Sinusitis/complications/*diagnosis/drug therapy
;
Submandibular Gland/pathology
;
Tomography, X-Ray Computed
7.Availability of Preoperative Systemic Steroids on Endoscopic Sinus Surgery for Chronic Rhinosinusitis with Nasal Polyposis.
Seok Jin HONG ; Jong Kyu LEE ; Hyun Sub LEE ; Jung Yup LEE ; Jung Soo PYO ; Kyung Chul LEE
Yonsei Medical Journal 2014;55(6):1683-1690
PURPOSE: To analyze the outcome of endoscopic sinus surgery (ESS) after preoperative systemic steroid (PSS) treatment for chronic rhinosinusitis (CRS) with nasal polyposis (NP) and to investigate and compare clinicopathological factors associated with the outcome. MATERIALS AND METHODS: We performed a retrospective chart review of 468 patients with CRS with NP who underwent primary ESS between January 2005 and October 2011. 124 patients who met the inclusion criteria were included. Beginning from 2008, our clinic administered steroid preoperatively in patients of CRS with NP, thus there were 84 patients with preoperative systemic steroid (PSS group) and another 40 patients without such regimen (no PSS group). To evaluate the outcome after ESS, poor outcome and complication were analyzed according to the following parameters: age, sex, follow-up duration, eosinophilic infiltration, atopy, asthma, Lund-Mackay score, and polyp grade. RESULTS: There was no significant difference in poor outcome rates between the PSS and no PSS group (35.0% vs. 47.6%, p=0.185). There was no significant difference in complication rates between the PSS and no PSS group (10% vs. 6%, p=0.468). As with the multivariate analysis of the clincopathological factors to the poor outcome rate, presence of asthma and eosinophilic infiltration were significantly related (odds ratio as 6.555 and 4.505, respectively), whereas PSS was confirmed as less likely related (odds ratio 0.611). CONCLUSION: Low dose PSS administration does not seem to have an effect on the outcome after ESS in patients who have CRS with NP. Eosinophilic infiltration and presence of asthma are important predictors of surgical outcome.
Adult
;
Aged
;
Asthma/complications
;
Chronic Disease
;
Endoscopy/*methods
;
Female
;
Humans
;
Inflammation
;
Male
;
Middle Aged
;
Nasal Polyps/complications/diagnosis/*surgery
;
Odds Ratio
;
Otorhinolaryngologic Surgical Procedures/*methods
;
Paranasal Sinuses/pathology
;
Prednisone/*administration & dosage
;
Retrospective Studies
;
Rhinitis/complications/diagnosis/*surgery
;
Sinusitis/complications/diagnosis/*surgery
;
Treatment Outcome
8.Measuring and imaging small airways dysfunction in asthma
Asia Pacific Allergy 2013;3(4):224-230
Asthma is a chronic inflammatory disorder of the airways causing typical symptoms, and the diagnosis is supported by evidence of airflow obstruction which is variable, reversible or inducible. However, standard assessment of lung function with spirometry does not measure dysfunction in small airways which are < 2 mm in diameter towards the periphery of the lung. These airways make only a small contribution to airway resistance under normal circumstances. Nevertheless, there is mounting evidence that pathology and dysfunction in these small airways are implicated in the pathogenesis and natural history of asthma. Using forced oscillation and the multibreath nitrogen washout techniques, uneven ventilation (ventilation heterogeneity) due to small airways dysfunction has been shown to be an important marker of asthma disease activity, even in the absence of abnormalities in standard spirometric measurements. Recent advances in imaging research, particularly with hyperpolarised gas magnetic resonance imaging, have also given insights into the significance and dynamic nature of ventilation heterogeneity in asthma. The challenge is to integrate these new physiological and imaging insights to further our understanding of asthma and facilitate potential new treatments.
Airway Resistance
;
Asthma
;
Diagnosis
;
Lung
;
Magnetic Resonance Imaging
;
Natural History
;
Nitrogen
;
Pathology
;
Population Characteristics
;
Spirometry
;
Ventilation
9.Tracheal schwannoma as a mimic of bronchial asthma.
Rajesh THOMAS ; Devasahayam J CHRISTOPHER ; Balamugesh THANGAKUNAM ; Rekha SAMUEL
Singapore medical journal 2012;53(5):e95-6
Primary tracheal tumours are rare and less frequently observed than bronchial tumours. Primary neurogenic tumours of the trachea as schwannomas or neurilemmomas are extremely uncommon. We report a tracheal schwannoma in a female patient who presented with breathlessness and wheeze, and she was being treated for asthma. Flexible bronchoscopy revealed a large pedunculated tracheal mass and biopsy confirmed schwannoma. She was treated with laser ablation with partial reduction of the tumour. Subsequently, she was lost to follow-up, although resection of the tumour with tracheal reconstruction was planned.
Adult
;
Asthma
;
diagnosis
;
Biopsy
;
Bronchoscopy
;
Diagnosis, Differential
;
Diagnostic Errors
;
Dyspnea
;
diagnosis
;
etiology
;
Female
;
Follow-Up Studies
;
Humans
;
Neurilemmoma
;
diagnosis
;
surgery
;
Radiography, Thoracic
;
Reconstructive Surgical Procedures
;
Respiratory Sounds
;
diagnosis
;
etiology
;
Tomography, X-Ray Computed
;
Trachea
;
diagnostic imaging
;
pathology
;
surgery
;
Tracheal Neoplasms
;
diagnosis
;
surgery
10.Pathological and high resolution CT findings in Churg-Strauss syndrome.
Rui-e FENG ; Wen-bing XU ; Ju-hong SHI ; Artin MAHMOUDI ; Wen-bing MU ; Wen-jie ZHENG ; Yuan-jue ZHU ; Hong-rui LIU
Chinese Medical Sciences Journal 2011;26(1):1-8
OBJECTIVETo investigate the Churg-Strauss syndrome (CSS) associated lung involvement, concentrating on clinical characteristics, pathological findings of lung involvements, response to treatment, and prognosis.
METHODSWe retrospectively analyzed the characters of the clinical manifestations, thin-section CT and pathological findings of CSS. The study involved 16 patients. Clinical data were obtained by chart review. All patients underwent transbronchial lung biopsy (TBLB). Six of them underwent surgical lung biopsy as well.
RESULTSThe patients included 7 men and 9 women, aged from 14 to 61 years (median, 47.5 years). Extrathoracic organs involved included nervous system (7/16) and skin (5/16). Respiratory symptoms included cough (12/16), exertional dyspnea (11/16), hemoptysis (4/16), and chest pain (3/16). CT findings included bilateral ground-glass opacities (12/16), bilateral patchy opacities (12/16), and centrilobular nodules (6/16). The pathological findings of TBLB demonstrated increased eosinophils (3/16), vasculitis (3/16), and interstitial pneumonia (16/16). The pathological findings of surgical lung biopsy of 6 cases showed necrotizing vasculitis in 4 cases, capillaries in 5, eosinophilic pneumonia in 3, granulomas in 2, and airway abnormalities in 3. All patients improved in symptoms after therapy during the study period (range, 3 to 51 months; median, 15 months).
CONCLUSIONSAsthma may be present in CSS patient when there is bronchial involvement. Ground-glass opacities and consolidation seen on high-resolution CT reflect the presence of eosinophilic pneumonia, vasculitis, and pulmonary alveolar hemorrhage. TBLB has significant limitations for the diagnosis of CSS. Early diagnosis and therapy can result in satisfactory prognosis.
Adolescent ; Adult ; Asthma ; physiopathology ; Biopsy ; Churg-Strauss Syndrome ; diagnosis ; diagnostic imaging ; drug therapy ; pathology ; Cyclophosphamide ; Female ; Humans ; Immunosuppressive Agents ; therapeutic use ; Lung ; diagnostic imaging ; pathology ; physiopathology ; surgery ; Male ; Middle Aged ; Prognosis ; Retrospective Studies ; Tomography, X-Ray Computed ; methods ; Treatment Outcome ; Young Adult

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