• Child Health Nursing Research
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• v.17 no.1
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• pp.58-67
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• 2011

Purpose: This study was done to explore the meaning of joys and sorrows in mothers of children with Mucopolysaccharidosis (MPS). Methods: The participants were 9 mothers who each had a child with MPS. Data were gathered using in-depth interviews. The interviews were recorded and transcribed verbatim. Data were analyzed using Colaizzi method. Results: The significant results from analyzing the interviews can be grouped into 12 concept descriptions, and 5 theme clusters. The essential theme clusters for the experience of the mothers were 'hopelessness about this rare disease', 'guilt because of the disease being hereditary, 'endless courses of treatment', 'wounds in the relationship', and 'relative composure of mind'. Conclusion: The finding of this study offer profound information on joys and sorrows experienced by mothers of children with MPS and provide basic data for developing nursing intervention strategies for the mothers of children with rare diseases.

• Journal of mucopolysaccharidosis and rare diseases
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• v.2 no.2
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• pp.46-49
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• 2016

Achondroplasia is autosomal dominant genetic disease and fibroblast growth factor receptor 3 (FGFR3) is currently known to be the only gene that causes achondroplasia. Gain-of function mutation in fibroblast-growth-factor-receptor 3 (FGFR3) causes the disease and C-type natriuretic peptide (CNP) antagonizes FGFR3 downstream signaling by inhibiting the pathway of mitogen-activated protein kinase (MAPK). As FGFR3-related skeletal dysplasias are caused by growth attenuation of the cartilage, chondrocytes appear to be unique in their response to FGFR3 activation. However, the full spectrum of molecular events by which FGFR3 mediates its signaling is just beginning to emerge. This article summaries the mechanisms of FGFR3 function in skeletal dysplasias, the extraordinary cellular manifestations of FGFR3 signaling in chondrocytes, and finally, the progress toward therapy for ACH.

• Journal of Yeungnam Medical Science
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• v.26 no.1
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• pp.78-83
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• 2009

Fibromuscular dysplasiais an uncommon condition of idiopathic, non-inflammatory and non-atherosclerotic disease of the musculature of arterial walls. The disease is rare, but it commonly affects young and middle aged women. Isolated intracranial cerebral fibromuscular dysplasia is extremely rare because cerebral fibromuscular dysplasia usually affects extracranial vessels. A 20-year-old woman was admitted with light hemiplegia and global aphasia. Brain MRI and MRA demonstrated acute left middle cerebral artery territory infarction with a multifocal stenosis and dilatation of the left middle cerebra artery and left internal carotid. The characteristic conventional cerebral angiographic findings demonstrated a typical string-of-beads appearance in the left distal internal carotid artery and proxiaml portion of the left middle cerebral artery, which suggested a medial type fibromuscular dysplasia. We report a case of isolated intracranial fibromuscular dysplasia with left middle cerebral artery territory infarction. Fibromuscular dysplasia should he considered as a stroke risk factors in children and young adults, especially in patients with no known cardiovascular risk factors.

• Medical Lasers
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• v.8 no.2
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• pp.80-83
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• 2019

Necrobiosis lipoidica (NL) is a rare, idiopathic, chronic granulomatous inflammatory disease of collagen degeneration with the risk of ulceration. Many procedures have been proposed to treat this rare disease. In this study, we applied LDM^®-MED for the management of NL, and this condition in our patient was chronic and refractory to other therapeutic options. To the best of our knowledge, no study has explored treatment of NL using ultrasound. Our results suggest that application of LDM^®-MED seems to be an effective treatment option for NL. Long-term and systematic studies are needed to determine whether such application of LDM^®-MED will be an innovative and effective treatment option for NL and various kinds of chronic wounds.

• Journal of the Korean Society of Radiology
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• v.83 no.3
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• pp.730-736
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• 2022

Intestinal ganglioneuromatosis is an extremely rare condition, particularly in pediatric patients, and the imaging features of the disease have been rarely reported before. Herein, we present a pediatric case of intestinal ganglioneuromatosis involving the transverse colon and splenic flexure with bowel perforation, which is a rare initial manifestation of the disease.

• Journal of Chest Surgery
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• v.32 no.11
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• pp.1060-1063
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• 1999

Amyloidosis is a rare disease which is characterized by the deposition of a histochemically specific substance called amyloid in many tissue bodies, and causes various symptoms according to the organs involved. Amyloid is usually recognized by its staining reaction with Congo red stain. Primary pulmonary amyloidosis is very rare. Nodular pulmonary amyloidosis is an uncommon entity that usually manifests itself as an asymptomatic incidental finding on the chest roentgenogram and is misdiagnosed as lung cancer or pulmonary tuberculosis.

• Journal of mucopolysaccharidosis and rare diseases
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• v.2 no.1
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• pp.17-18
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• 2016

Enzyme replacement therapy (ERT) is a well-established means of treating lysosomal storage disease (LSD). However, classical IV infusion based ERT method produces less than ideal results, especially, CNS defects and quality of life in patients. To improve these main problems of parental IV formulation for LSDs, we investigate modified ERT method and evaluated the efficacy in animal model.

• Journal of Chest Surgery
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• v.54 no.2
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• pp.143-145
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• 2021

In a newborn in whom cor triatriatum was missed on echocardiography, infracardiac total anomalous pulmonary venous connection was successfully repaired with the aid of cardiac computed tomography (CT). In rare combinations, as in this case, an accurate diagnosis prior to surgery, which is of vital importance for successful repair, can be made through a high index of suspicion and the use of a supplemental imaging modality such as CT.

• Journal of Physiology & Pathology in Korean Medicine
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• v.16 no.5
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• pp.1066-1069
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• 2002

Wilson's disease is a rare inborn error of metabolism inherited as a autosomal recessive trait. The disease has varied mode of manifestations. It is characterized by different neurologic disorder and hepatic disease. I experienced a case of Wilson's disease in 40 year old woman who was suffered from liver cirrhosis, severe anorexia, and classical neurologic symptoms such as tremour, dysarthria and ataxia. The symptoms was not relieved by D-penicillamine, Youngyanggaksan and Samchulgunbi-tang but anorexia was improved significantly by same medication.

• Journal of Chest Surgery
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• v.52 no.1
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• pp.51-54
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• 2019

Castleman disease is a relatively rare disease, characterized by well-circumscribed benign lymph-node hyperplasia. The disease may develop anywhere in the lymphatic system, but is most commonly reported as unicentric Castleman disease in the mediastinum along the tracheobronchial tree. It is usually asymptomatic and detected on plain chest radiography as an incidental finding. We report an incidentally detected case of Castleman disease in the paravertebral space that was preoperatively diagnosed as a neurogenic tumor and treated by complete surgical resection.