• Journal of mucopolysaccharidosis and rare diseases
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• 제5권1호
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• pp.1-7
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• 2021

Gaucher disease (GD, OMIM #230800 OMIM#230800) is a rare, autosomal recessive inherited metabolic disorder caused by mutation in GBA1 encoding the lysosomal enzyme, glucocerebrosidase. The deficiency of glucocerebrosidase leads to an accumulation of its substrate, glucosylceramide in macrophages of various tissues. Common clinical manifestations include cytopenia, splenomegaly, hepatomegaly, and bone lesions. The phenotype of GD is classified into three clinical categories: Type 1 (non-neuronopathic) is characterized by involvements on the viscera, whereas types 2 and 3 (neuronopathic) are associated with not only visceral symptoms but also neurological impairment, either severe in type 2 or variable in type 3. A diagnosis of GD can be confirmed by demonstrating the deficiency of acid glucocerebrosidase activity in leukocytes. Mutations in the GBA1 should be identified as they may be of prognostic value in some cases. Biomarkers including Chitotriosidase, CCL18, and glucosylsphingosine (lyso-GL1) are useful in diagnosis and treatment monitoring. Currently available disease-specific treatment in Korea consists of intravenous enzyme replacement therapy and substrate reduction therapy. For enhancing long-term prognosis, the onset of Parkinson's disease and Lewy body dementia, or the occurrence of a blood disease or cancer (hepatocellular carcinoma) should be monitored in older patients. The development of new strategies that can modify the neurological phenotype are expected, especially in Asia including Korea, where the prevalence of neuronopathic GD is relatively higher than that in western countries.

• Journal of Genetic Medicine
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• 제15권1호
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• pp.17-19
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• 2018

Alkaptonuria (AKU, OMIM: 203500) is a rare autosomal recessive disorder of tyrosine metabolism due to a defect of enzyme activity, homogentisate 1,2-dioxygenase (HGD). The patients with AKU initially presented with dark urine discoloration, and ochronosis and arthritis develop after third decades of life. With advances of Internet resources, web-based health seekers for rare disease are increasing. Here, we report the case of an 18-year-old boy with AKU who visited our center due to dark black urine based on self-diagnosis via web searching of this rare condition. Compound heterozygous mutations in HGD gene, IVS5+3A>C and IVS12+6T>C were identified and both of mutations were detected in his parents. Our case illustrates the utility of publicly available Internet resources for diagnosis of rare disease.

• Biomolecules & Therapeutics
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• 제28권4호
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• pp.370-379
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• 2020

Econazole, a potent broad-spectrum antifungal agent and a Ca²⁺ channel antagonist, induces cytotoxicity in leukemia cells and is used for the treatment of skin infections. However, little is known about its cytotoxic effects on solid tumor cells. Here, we investigated the molecular mechanism underlying econazole-induced toxicity in vitro and evaluated its regulatory effect on the metastasis of gastric cancer cells. Using the gastric cancer cell lines AGS and SNU1 expressing wild-type p53 we demonstrated that econazole could significantly reduce cell viability and colony-forming (tumorigenesis) ability. Econazole induced G0/G1 phase arrest, promoted apoptosis, and effectively blocked proliferation- and survival-related signal transduction pathways in gastric cancer cells. In addition, econazole inhibited the secretion of matrix metalloproteinase- 2 (MMP-2) and MMP-9, which degrade the extracellular matrix and basement membrane. Econazole also effectively inhibited the metastasis of gastric cancer cells, as confirmed from cell invasion and wound healing assays. The protein level of p53 was significantly elevated after econazole treatment of AGS and SNU1 cells. However, apoptosis was blocked in econazole-treated cells exposed to a p53-specific small-interfering RNA to eliminate p53 expression. These results provide evidence that econazole could be repurposed to induce gastric cancer cell death and inhibit cancer invasion.

• Journal of Chest Surgery
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• 제10권1호
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• pp.118-123
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• 1977

Congenital cystic disease of the lung is very rare and controversial disease. But in general is regarded as developmental anomaly. Occasionally failure of the primitive lung bud to develop combined with cardiac anomaly had been reported but it was very rare. Recently a case of cystic lung disease combined with pulmonic valvular stenosis was seen in this clinic with clinical pictures of nonspecific respiratory infection and X-ray finding very similar to that of far advanced pulmonary tuberculosis, destroyed left lung. This case was treated by closed pulmonic valvulotomy and left side pneumonectomy successfully.

• Journal of Chest Surgery
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• 제45권3호
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• pp.199-201
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• 2012

Castleman's disease is a rare disorder characterized by benign tumors that may develop in the lymph node tissue throughout the body. Castleman's disease associated with myasthenia gravis is an especially rare disease. Only less than 10 cases have been reported in the world literature. The cause of Castleman's disease is associated with immune mediated reaction, and myasthenia gravis also develops due to an antibody-mediated process. The cause of myasthenia gravis is the immune activity of Castleman's disease, which may be the promoter of the antibody-mediated process. We report here a case of Castleman's disease, which was incidentally found in a patient diagnosed with myasthenia gravis.

• Journal of mucopolysaccharidosis and rare diseases
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• 제5권1호
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• pp.22-28
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• 2021

Mucopolysaccharidosis type III (MPS III) or Sanfilippo disease is an orphan-inherited lysosomal storage disease. It is one of the most common MPS subtypes. The classical presentation is an infantile-onset neurodegenerative disease characterized by intellectual regression, behavioral and sleep disturbances, loss of ambulation, and early death. Unlike other MPS, no disease-modifying therapy has been approved. Here, we review the curative therapy developed for MPS III, from historically ineffective hematopoietic stem cell transplantation and substrate reduction therapy to the promising enzyme replacement therapy or adeno-associated/lentiviral vector-mediated gene therapy. Preclinical studies are presented with recent translational first-in-man trials. We also present experimental research with preclinical mRNA and gene-editing strategies. Lessons from animal studies and clinical trials have highlighted the importance of early therapy before extensive neuronal loss. Disease-modifying therapy for MPS III will likely mandate the development of new early diagnosis strategies.

• 대한영상의학회지
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• 제83권3호
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• pp.719-723
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• 2022

Rosai-Dorfman Disease (이하 RDD)는 드문 조직구 증식성 질환이며 두개 내에만 발생하는 경우는 매우 드물다. 대부분의 두개 내 RDD는 균질한 조영증강을 동반하는 경막의 종괴들로 나타나서, 심한 경부 림프절증을 보이지 않는 경우에는 수술하기 전에 뇌수막종과의 감별이 어렵다. 저자들은 65세 남자 환자의 두개 내에만 발생한 RDD의 드문 증례에 대해 보고하고자 한다. 뇌 MRI에서 우측 전엽 원개에 경계가 분명한 조영증강되는 종괴의 형태로 보였으며 미세한 확산제한이 관찰되었다. 하지만 수술 전 뇌혈관조영상에서는 겨우 미세한 홍조만이 보였다. 비록 두개 내에만 발생한 RDD가 드물기는 하지만, 경막에 기반한 종괴가 뇌혈관조영상에서 저혈관성의 형태로만 보일 때 감별질환으로 생각할 수 있다.

• Journal of Yeungnam Medical Science
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• 제37권4호
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• pp.341-344
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• 2020

Hereditary neuropathy with liability to pressure palsy (HNPP) is a rare neurological genetic disease caused by deletion of the peripheral myelin protein 22 gene and presents in childhood or young adulthood. We report four cases of HNPP with typical and rare presentations, reflecting the broad clinical spectrum of this disease. Two patients presented with mononeuropathies that are frequently observed in HNPP; the remaining two presented with bilateral neuropathy or mononeuropathy anatomically present in the deep layer. This reflects the broad clinical presentation of HNPP, and clinicians should differentiate these conditions in young patients with monoparesis or bilateral paresis. Although HNPP is currently untreatable, early diagnosis in the emergency department can lead to early detection, eventually resulting in less provocation and recurrence which may cause early motor nerve degeneration.

• Clinical and Experimental Pediatrics
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• 제56권10호
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• pp.456-458
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• 2013

Cystic fibrosis (CF) is a genetic disease with autosomal recessive inheritance and is common in Caucasian people. The prevalence of this disease is between 1/2,000 and 1/3,500 live births, and the incidence varies between populations. Although the CF transmembrane conductance regulator gene is expressed in the kidneys, renal involvement is rare. With advances in the treatment of CF, life expectancy has increased, and some previously unobserved disease associations are now seen in patients with CF. It is important to follow patients with CF for possible abnormalities that may accompany CF. In this paper, we present two rare cases of CF accompanied by nephrotic syndrome.

• 대한두개안면성형외과학회지
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• 제21권5호
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• pp.305-308
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• 2020

Madelung's disease (MD) otherwise known as Launois-Bensaude syndrome, multiple symmetrical lipomatosis, or benign symmetric lipomatosis, is a rare disease characterized by abnormal diffuse lipomatosis in proximal upper limbs and neck. Here, we report a rare case of MD. A 66-year-old man presented with massive growth of soft tissues in the cervico-occipital region of more than 2 years duration. Physical examination showed diffuse enlargement of the anterior neck (Madelung's collar) and three huge humps at the posterior neck. Under a diagnosis of MD, lipectomy via a single anterior transverse incision and liposuction were performed. This rare case report may be helpful for assessing patients with abnormal diffuse lipomatosis in the neck and proximal upper limbs.