• Tuberculosis and Respiratory Diseases
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• v.44 no.6
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• pp.1426-1432
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• 1997

Sj$\ddot{o}$gren's syndrome(SS) is a chronic inflammatory disorder characterized by lymphocytic infiltration of lacrimal and sailvary glands, which results in dry eyes and dry mouth. SS may exist as a primary condition or as a secondary condition in association with connective tissue disease such as rheumatoid arthritis, systemic lupus erythematosus, or progressive systemic sclerosis. We experienced a patient with primary SS who developed multiple bullae, nodular type of pulmonary amyloidosis and lymphocytic interstitial peumonitis. We believe this to be the first reported case of SS acompanied by these three types pulmonary manifestations at the same time.

• Tuberculosis and Respiratory Diseases
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• v.69 no.2
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• pp.129-133
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• 2010

Extramedullary plasmacytoma (EMP) is a rare disorder that typically occurs in the upper airway. Although the condition rarely arises in the lungs, a few cases have been reported. Here, we report a case of pulmonary plasmacytoma in 66-year-old man, who had been treated with VAD (vincrestine, adriamycin, dexamethasone) chemotherapy for multiple myeloma. The patient had been declared clear of multiple myeloma after 4 cycles of chemotherapy. Three months later, the patient had multiple masses visible on computed tomography (CT) and on positron emission tomography-computed tomography (PET-CT) with hot uptake. Subsequent studies using CT-guided needle biopsy and immunohistochemical stain showed pulmonary plasmacytoma. Bone marrow biopsy, serum, and urine M protein tests were repeated, showing no evidence of multiple myeloma. Pulmonary plasmacytomas, as extramedullary plasmacytomas, were considered an isolated manifestation of multiple myeloma recurrence. We treated the patient with concurrent chemoradiotherapy and the pulmonary plasmacytomas regressed dramatically.

• Neonatal Medicine
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• v.15 no.1
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• pp.84-88
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• 2008

The Jarcho-Levin syndrome is a rare genetic disorder characterized by a short neck, short trunk, and a constricted thorax, and is due to multiple vertebral and rib defects. The small size of the thorax frequently leads to respiratory insufficiency and death in neonates or infants. This syndrome also combines with various kinds of anomalies, especially renal anomalies. We report an infant with Jarcho-Levin syndrome combined with fusion of both kidneys who was referred from a local obstetric clinic for cyanosis and respiratory difficulty.

• Neonatal Medicine
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• v.28 no.2
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• pp.89-93
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• 2021

Nemaline myopathy is a genetically heterogeneous neuromuscular disorder and one of the most common congenital myopathies. The clinical manifestations usually vary depending on the age of onset. Neonatal nemaline myopathy has the worst prognosis, primarily due to respiratory failure. Several genes associated with nemaline myopathy have been identified, including NEB, ACTA1, TPM3, TPM2, TNNT1, CFL2, KBTBD13, KLHL40, KLHL41, LMOD3, and KBTBD13. Here, we report a neonatal Korean female patient with nemaline myopathy carrying compound heterozygous mutations in the gene KLHL40 as revealed using next generation sequencing (NGS). The patient presented with postnatal cyanosis, respiratory failure, dysphagia, and hypotonia just after birth. To identify the genetic cause underlying the neonatal myopathy, NGS-based gene panel sequencing was performed. Compound heterozygous pathogenic variants were detected in KLHL40: c.[1405G>T];[1582G>A] (p. [Gly469cys];[Glu528Lys]). NGS allows quick and accurate diagnosis at a lower cost compared to traditional serial single gene sequencing, which is greatly advantageous in genetically heterogeneous disorders such as myopathies. Rapid diagnosis will facilitate efficient and timely genetic counseling, prediction of disease prognosis, and establishment of treatments.

• Journal of Dental Anesthesia and Pain Medicine
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• v.23 no.4
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• pp.179-192
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• 2023

Obstructive sleep apnea (OSA) is a common sleep-breathing disorder associated with significant comorbidities and perioperative complications. This narrative review is aimed at comprehensively overviewing preoperative risk evaluation and perioperative management strategies for patients with OSA. OSA is characterized by recurrent episodes of upper airway obstruction during sleep leading to hypoxemia and arousal. Anatomical features, such as upper airway narrowing and obesity, contribute to the development of OSA. OSA can be diagnosed based on polysomnography findings, and positive airway pressure therapy is the mainstay of treatment. However, alternative therapies, such as oral appliances or upper airway surgery, can be considered for patients with intolerance. Patients with OSA face perioperative challenges due to difficult airway management, comorbidities, and effects of sedatives and analgesics. Anatomical changes, reduced upper airway muscle tone, and obesity increase the risks of airway obstruction, and difficulties in intubation and mask ventilation. OSA-related comorbidities, such as cardiovascular and respiratory disorders, further increase perioperative risks. Sedatives and opioids can exacerbate respiratory depression and compromise airway patency. Therefore, careful consideration of alternative pain management options is necessary. Although the association between OSA and postoperative mortality remains controversial, concerns exist regarding adverse outcomes in patients with OSA. Understanding the pathophysiology of OSA, implementing appropriate preoperative evaluations, and tailoring perioperative management strategies are vital to ensure patient safety and optimize surgical outcomes.

• Journal of Oral Medicine and Pain
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• v.48 no.3
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• pp.118-122
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• 2023

In this study, we investigate the emergence of bullous pemphigoid (BP) after the administration of the Severe Acute Respiratory Syndrome-Coronavirus Disease 2019 (SARSCOVID-19) vaccine. The study presents two cases of women, aged 47 and 53, diagnosed with BP following SARS-COVID-19 vaccination. BP is a common autoimmune blistering disorder prevalent among older populations, with an incidence rate ranging from 2 to 40 cases per million individuals. This condition arises when autoantibodies target adhesive proteins in the skin, resulting in blister formation and mucosal erosion. Drug-induced bullous pemphigoid (DIBP) shares similarities with the classic form of BP but may be influenced by medication usage. Notably, DIBP exhibits distinct characteristics, such as affecting a younger demographic and involving mucosal regions more prominently than classic BP. The growing incidence of BP is linked to factors such as an aging population and the rise of drug-induced cases. This case report provides valuable insights into comprehending DIBP, elucidating post-vaccination discomforts, particularly those related to oral lesions and the exacerbation of existing lesions. By elucidating these aspects, we aim to advance the understanding of DIBP within the medical community.

• Tuberculosis and Respiratory Diseases
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• v.44 no.4
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• pp.922-929
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• 1997

Relapsing polychondritis is a systemic disorder characterized by recurrent inflammation and degeneration of cartilaginous tissue throughout the body. The association with HLA-DR4 and the occurrence of antibodies to type II collagen and other autoantibodies suggest that an immunologic mechanism is involved in its pathogenesis. The eyes, ears, nose, larynx, trachea and articular areas are commonly involved. Airway narrowing or collapse from respiratory tract involvement occurs in up to 50% of patients with relapsing polychondritis. Treatment consists of administration of corticosteroids and other anti-inflammatory and immunosuppresive drugs. We experienced a case of relapsing polychondritis involving the tracheobronchial tree, nose and ears in a 49-year-old woman. The patient was clinically and histologically diagnosed as relapsing polychondritis according to McAdam's and Damiani's criteria. We report this case with a review of the literature.

• Tuberculosis and Respiratory Diseases
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• v.61 no.4
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• pp.403-406
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• 2006

A 66-years-old man was refered to our hospital because of cough, sputum, chill and fever. Enlargement of the trachea and main bronchi on radiography and bronchoscopy is compatible with Mounier-Kuhn syndrome. Mounier-Kuhn syndrome or tracheobronchomegaly is a rare disorder of uncertain etiology, characterized by marked dilatation of the trachea and major bronchi. This syndrome is associated with tracheal diverticulosis, bronchiectasis and recurrent respiratory tract infection. We report a rare case of Mounier-Kuhn syndrome with pneumonia and literature reviews.

• Tuberculosis and Respiratory Diseases
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• v.67 no.6
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• pp.565-568
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• 2009

Yellow nail syndrome is a rare cause of pleural effusions. This syndrome is characterized by yellow discoloration of nails, lymphedema, and respiratory disorders, including pleural effusion, chronic bronchitis, bronchiectasis, and chronic sinusitis. The etiology of this syndrome is obscure, but the pathogenesis seems to be related with impaired lymphatic drainage. We report a case of yellow nail syndrome in a 70-year-old female with the typical clinical findings (yellow discoloration of nails, lymphedema, and chronic pleural effusion) of this disorder and with proven lymphatic obstruction on lymphoscintigraphy.

• Tuberculosis and Respiratory Diseases
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• v.79 no.4
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• pp.267-273
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• 2016

Background: Cystic fibrosis (CF) is an autosomal recessive disorder with several clinical presentations. This study was undertaken in the Azeri Turkish population in Iran, to investigate gender differences in the age at onset and diagnosis, age of death, and duration of illness of CF. Methods: The data of 331 CF patients from 2001 to 2015 was surveyed. Parameters including age, sex, ${\Delta}F508$ mutation, age at onset, age at diagnosis, age of death and clinical presentations were evaluated for both sexes, using descriptive analysis. The association of gender with these variables was studied using logistic regression, chi-square test and Mann-Whitney U test by SPSS version 18. Odds ratio with a confidence interval of 95% and $p{\leq}0.05$ was considered statistically significant. Results: The study included 191 males (57.7%) and 140 females (42.3%), all showing statistically significant difference (p<0.001). Age duration differed between genders. Male and female patients were further under 9 and 4 years, respectively. The occurrence of ${\Delta}F508$ mutation was 0.51 times more in females than in males. Age, diagnosis and sex were closely associated: males were diagnosed at a significantly later age than females (p=0.05). While this compression performed based on clinical presentations, males with respiratory disease had a later median age at diagnosis than females at lifespan (p=0.001). The risk of infertility in males was approximately two times greater than in females (p=0.02). Conclusion: These findings indicate gender differences in CF patients. Future studies are needed to establish other differences and evaluate the causes for the gender variations.