• 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.

• Pediatric Infection and Vaccine
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• v.27 no.3
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• pp.190-197
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• 2020

Laryngotracheobronchitis (LTB) is a common disease in the pediatric population, and it is rarely caused by a fungal infection. Acute respiratory failure caused by fungal LTB mainly occurs in immunocompromised patients, and early diagnosis is closely associated with morbidity and mortality. However, an appropriate diagnosis is challenging for pediatricians because symptoms and signs of LTB caused by Aspergillus spp. are nonspecific. Here, we report a case of progressive respiratory failure caused by pseudomembranous LTB in a child with a suspicion of primary immunodeficiency and highlight the importance of an early investigation, especially in immunocompromised patients.

• Journal of Veterinary Clinics
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• v.41 no.2
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• pp.106-111
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• 2024

A 4-year-old neutered female domestic shorthair cat weighing 5.1 kg was referred to Jeju National University Hospital with acute onset respiratory distress, weakness, and anorexia. The patient had a history of stressful antecedent events that involved bullying by a newly introduced cat. Thoracic radiography and echocardiography revealed a stage C hypertrophic cardiomyopathy phenotype based on the American College of Veterinary Internal Medicine classification system with pulmonary edema, pleural effusion, and pericardial effusion at the same time. The patient was treated with furosemide, pimobendan, and rivaroxaban. Pericardiocentesis was performed because pericardial effusion was identified. Reevaluation after 30 days revealed a normal respiratory rate on physical examination, normal cardiac shape on thoracic radiographs, and normal cardiac measurements on echocardiography. The patient was tentatively diagnosed with transient myocardial thickening (TMT) and all medications were discontinued. Six months after the initial hospitalization, the cat continued to do well without any clinical signs or left ventricular wall thickening. This case is the first report describing feline TMT in Korea. Moreover, it involves a rare case in which pulmonary edema, pleural effusion, and pericardial effusion, which induce cardiac tamponade, occurred simultaneously due to TMT-related congestive heart failure.

• Journal of The Korean Society of Clinical Toxicology
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• v.8 no.1
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• pp.24-29
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• 2010

Purpose: Neonicotinoid insecticides are widely used as they have been proven by experimental studies to have low toxicity to mammals, including humans. As the use of neonicotioids increases, the number of patients with neonicotinoid poisoning has also increased. We conducted a study to investigate the clinical manifestations of neonicotinid poisoning. Methods: We retrospectively analyzed the patients who ingested neonicotinids and who visited the emergency department located in Korea from March 2002 to February 2010. We reviewed the patients' age, gender, the amount of exposure, the elapsed time to presentation, the treatment and the outcome. According to the poisoning severity score, we divided the patients with a Poisoning severity score (PSS) of 0 or 1 into the mild/moderate toxicity group and the patients with a PSS of 2 or 3 into the severe/fatal toxicity group. Results: A total of 24 patients were analyzed. The most common clinical manifestations of neonicotinoid insecticide toxicity were gastrointestinal symptoms (66.7%) such as nausea, vomiting and abdominal pain and the others are respiratory symptoms (16.7%), cardiovascular symptoms (12.5%), metabolic imbalance (12.5%), renal dysfunction (8.3%), CNS symptoms (8.3%), and asymptomatic (29.2%). Twenty patients (83.3%) showed mild/moderate toxicity and 4 patients (16.7%) showed fatal conditions such as shock and mutiorgan failure. The mortality rate was 4.2%. In these fatal cases, the patients developed respiratory failure, hypotension, altered mentality and renal failure at the acute stage and they deteriorated to a more serious condition. This severe toxicity was caused by decreased renal excretion of neonicotinid metabolite, and this was improved after hemodialysis. Conclusion: Most patients with neonicotinoid poisoning and who showed mild toxicity usually improved after symptomatic treatment. However, some patients showed significant toxicity with respiratory failure and renal function deterioration, and intensive care needed, including mechanical ventilation and hemodialysis.

• Clinical and Experimental Pediatrics
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• v.58 no.10
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• pp.402-405
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• 2015

IgA nephropathy usually presents as asymptomatic microscopic hematuria or proteinuria or episodic gross hematuria after upper respiratory infection. It is an uncommon cause of end-stage renal failure in childhood. Pulmonary hemorrhage associated with IgA nephropathy is an unusual life-threatening manifestation in pediatric patients and is usually treated with aggressive immunosuppression. Pulmonary hemorrhage and renal failure usually occur concurrently, and the pulmonary manifestation is believed to be caused by the same immune process. We present the case of a 14-year-old patient with IgA nephropathy who had already progressed to end-stage renal failure in spite of immunosuppression and presented with pulmonary hemorrhage during oral prednisone treatment. His lung disease was comparable to diffuse alveolar hemorrhage and was successfully treated with plasmapheresis followed by oral prednisone. This case suggests that pulmonary hemorrhage may develop independently of renal manifestation, and that plasmapheresis should be considered as adjunctive therapy to immunosuppressive medication for treating IgA nephropathy with pulmonary hemorrhage.

• Tuberculosis and Respiratory Diseases
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• v.39 no.3
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• pp.271-277
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• 1992

Diffuse panbronchiollitis (DPB), a rare progressive disorder, has lately been receiving increasing attention. DPB is a disease of obscure etiology, characterized by chronic inflammation localized mainly in the region of respiratory bronchiole just distal to the terminal bronchioles. In 1983, Homma and coworkers reported 82 cases of a new clinicopathological entity, DPB, in Japan. Also DPB is a disease largely restricted geographically to Japan but the prevalence in other countries is extremely low. Histoloically, it is characterized by a suppurative bronchiolitis involving primarily the respiratory and terminal bronchioles with subsequent progression to bronchiectasis. The disease progresses rapidly and results in respiratory failure due to repeated respiratory infections. We experienced a cases of DPB accompanied with chronic maxillary sinusitis in both sinuses. Diagnosis of DPB was comfirmed by pathological results from thoracoscopic lung biopsy, typical radiological findings, clinical symptoms and pulmonary function test. After treatment with erythromycin for 6 months, the patient's condition and the typical micronodular densities on the chest radiography improved. A few case of DPB was reported in Korea. We report a case of DPB through thoracoscopic lung biopsy.

• Journal of Chest Surgery
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• v.48 no.4
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• pp.289-293
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• 2015

A 38-year-old male was admitted with symptoms of upper respiratory infection. Despite medical treatment, his symptoms of dyspnea and anxiety became aggravated, and bilateral lung infiltration was noted on radiological imaging studies. His hypoxemia failed to improve even after the application of endotracheal intubation with mechanical ventilator care, and we therefore decided to initiate venovenous extracorporeal membrane oxygenation (VV ECMO) for additional pulmonary support. On his twentieth day of hospitalization, hypotension and desaturation (arterial saturated oxygen <85%) developed, and right ventricular failure was confirmed by two-dimensional echocardiography. Therefore, we changed from VV ECMO to venoarteriovenous (VAV) ECMO, and the patient ultimately recovered. In this case, right ventricular dysfunction and volume overloading were induced by long-term VV ECMO therapy, and we successfully treated these conditions by changing to VAV ECMO.

• Tuberculosis and Respiratory Diseases
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• v.42 no.5
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• pp.781-786
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• 1995

Transcatheter arterial chemoembolization(TACE) was performed in a 61 year old male patient with hepatocellular carcinoma with 10 cc of Lipiodol and 50 mg of doxorubicin. Three days later, he complained of dyspnea and dry cough. The arterial blood gas study revealed moderate hypoxemia and hypocarbia. The chest PA showed acute pulmonary edema with bilateral pleural effusion. To rule out the possibilities of acute respiratory failure caused by infection, pulmonary embolism or congestive heart failure, we performed several laboratory studies. The blood and sputum culture studies revealed negative results for bacterial growth. The echocardiogram was normal. The abdominal CT scan and MR imaging revealed no thrombus or mass lesion in the inferior vena cava. So we concluded pulmonary oil embolism induced by lipiodol as the cause of acute lung injury. Four weeks later, clinical symptoms and chest x-ray were markedly improved with conservative care. We report a case of acute lung injury after TACE with lipiodol and doxorubicin, with review of literatures.

• Tuberculosis and Respiratory Diseases
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• v.44 no.6
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• pp.1382-1389
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• 1997

Hantavirus pulmonary syndrome(HPS) is a systemic disease that is caused by a newly discorved and characterized virus of the Hantavirus genus, which is most frequently referred to as the sin nombre virus. The clinical syndrome resembles other hantavirus syndromes worldwide, except that it is characterized by a brief prodromal illness followed by rapidly progressive, noncardiogenic edema, and that it is more deadly than any previously recognized hantavirus infection. The clinical manifestations of HPS are characterized by four clinical phases : prodrome, pulmonary edema and shock, diuresis, and convalescence. Mortality is greatest in the first 24 hours of the pulmonary edema and shock phase of the illness. These phases are strikingly similar to the clinical phases of Hemorrhagic fever with renal syndrome(HFRS) induced by Hantaan virus, except that HPS has not been associated with renal failure and Disseminated intravascular coagulation(DIC). We here report a case of hantavirus pulmonary syndrome developed in a 58 year-old man. He had a flu-like illness followed by the rapid onset of respiratory failure due to noncardiogenic pulmonary edema. HPS was diagnosed by clinical manifestations, identification of high titer antibody to Hantaan virus antigen and histologic finding of transbronchial lung biopsy (TBLB) specimen. The patient was treated with mechanical ventilation and initial corticosteroid pulse therapy resulting in successful outcome.

• Tuberculosis and Respiratory Diseases
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• v.82 no.1
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• pp.15-26
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• 2019

The pathogen Mycobacterium avium complex (MAC) is the most common cause of nontuberculous mycobacterial pulmonary disease worldwide. The decision to initiate long-term antibiotic treatment is difficult for the physician due to inconsistent disease progression and adverse effects associated with the antibiotic treatment. The prognostic factors for the progression of MAC pulmonary disease are low body mass index, poor nutritional status, presence of cavitary lesion(s), extensive disease, and a positive acid-fast bacilli smear. A regimen consisting of macrolides (clarithromycin or azithromycin) with rifampin and ethambutol has been recommended; this regimen significantly improves the treatment of MAC pulmonary disease and should be maintained for at least 12 months after negative sputum culture conversion. However, the rates of default and disease recurrence after treatment completion are still high. Moreover, treatment failure or macrolide resistance can occur, although in some refractory cases, surgical lung resection can improve treatment outcomes. However, surgical resection should be carefully performed in a well-equipped center and be based on a rigorous risk-benefit analysis in a multidisciplinary setting. New therapies, including clofazimine, inhaled amikacin, and bedaquiline, have shown promising results for the treatment of MAC pulmonary disease, especially in patients with treatment failure or macrolide-resistant MAC pulmonary disease. However, further evidence of the efficacy and safety of these new treatment regimens is needed. Also, a new consensus is needed for treatment outcome definitions as widespread use of these definitions could increase the quality of evidence for the treatment of MAC pulmonary disease.