• Journal of Yeungnam Medical Science
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• v.36 no.1
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• pp.63-66
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• 2019

Malignant peripheral nerve sheath tumor (MPNST) is rare, accounting for 5-10% of all soft tissue sarcomas. MPNST is characteristically aggressive and has a poor prognosis. Fifty percent of patients with MPNST have neurofibromatosis type 1 (NF1). NF-associated MPNST occurs more often at younger ages than sporadic MPNST, but the survival difference is controversial. Superficial MPNST from a recurrent neurofibroma is extremely rare and only a limited number of cases have been reported in the literature. Herein, we report an unusual case of superficial MPNST from a recurrent neurofibroma in a patient without NF1.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.19
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• pp.8413-8422
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• 2014

Background: To investigate the relationship of five TP53 polymorphisms (p.P47S, p.R72P, PIN3 ins16bp, p.R213R and r.13494g>a) with the esophageal cancer (EC) risk in North Indians. Materials and Methods: Genotyping of p.P47S, p.R72P, PIN3 ins16bp, p.R213R and r.13494g>a polymorphisms of TP53 in 136 sporadic EC patients and 136 controls using polymerase chain reaction and PCR-RFLP. Results: The frequencies of genotype RR, RP and PP of p.R72P polymorphism were 16.91 vs 26.47%, 58.82 vs 49.27% and 24.27 vs 24.27% among patients and controls respectively. We observed significantly increased frequency of RP genotype in cases as compared to controls (OR=1.87, 95% CI, 1.01-3.46, p=0.05). The frequencies of genotype A1A1, A1A2 and A2A2 of PIN3 ins16bp polymorphism were 69.12 vs 70.59%, 27.20 vs 25% and 3.68 vs 4.41% among patients and controls. There was no significant difference among genotype and allele distribution between patients and controls. The frequencies of genotype GG, GA and AA of r.13494g>a polymorphism were 62.50 vs 64.70%, 34.56 vs 30.15% and 2.94 vs 5.15% among patients and controls respectively. No significant difference between genotype and allele frequency was observed in the patients and controls. For p.P47S and p.R213R polymorphisms, all the cases and controls had homozygous wild type genotype. The RP-A1A1-GG genotype combination shows significant risk for EC (OR=2.01, 95%CI: 1.01-3.99, p=0.05). Conclusions: Among the five TP53 polymorphisms investigated, only p.R72P polymorphism may contributes to EC susceptibility.

• Asian Pacific Journal of Cancer Prevention
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• v.17 no.9
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• pp.4259-4265
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• 2016

Background: Colorectal malignancies with high microsatellite instability (MSI-H), either hereditary (Lynch syndrome) or sporadic, demonstrate better prognosis and altered response to 5FU chemotherapy. It is now recommended to perform MSI testing for all new cases of colorectal cancer regardless of being categorized as hereditary or sporadic. For MSI detection, immunohistochemistry or PCR-based protocols using a cohort of various sets of STR markers are recommended. Here we aimed to evaluate a simplified protocol using just a single STR marker, MT1XT20 mononucleotide repeat, for detection of MSI in Lynch syndrome patients. A Promega five-marker MSI testing panel and immunohistochemistry (IHC) were used as the gold standard in conjunction with MT1XT20. Materials and Methods: Colorectal patients with a positive history of familial cancers were selected by evaluating medical records. Based on Amsterdam II criteria for Lynch syndrome 20 families were short listed. DNA was extracted from formalin fixed paraffin embedded tumour and adjacent normal tissues resected from the index case in each family. Extracted DNA was subjected to MT1XT20 mononucleotide marker analysis and assessment with a commercially available five marker MSI testing kit (Promega, USA). IHC also was performed on tissue sections and the results were compared with PCR based data. Results: Eight (40%), seven (35%) and five (25%) cases were MSI positive using with the Promega kit, IHC and MT1XT20, respectively. Among the markers included in Promega kit, BAT26 marker showed instability in all 8 samples. NR24 and NR21 markers showed instability in 7 (87.5%), and BAT25 and MONO 27 in 6 (75%) and 5 (62.5%). Conclusions: Although MT1XT20 was earlier reported as a valid standalone marker for MSI testing in CRC patients, we could not verify this in our Iranian patients. Instead BAT26 among the markers included in Promega MSI testing kit showed instability in all 8 MSI-H CRC samples. Therefore, it seems BAT26 could act well as a single marker for MSI testing in Iranian CRC patients.

• Parasites, Hosts and Diseases
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• v.35 no.4
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• pp.291-294
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• 1997

On July and August 1997 two 15-year-old mates of a football team of Tongjin Middle School in northern Kyon99i-do, Korea were consecutively diagnosed as vivax malaria by peripheral blood smear. They had no histories of travelling abroad or drug abuse. Thry witnessed that othev mates in the tram were ill of fever in the same period. A small survey was therefore undertaken to determine whether vivax malaria was outbroken locally. A total of 57 students of the team living together in a dormitory was examined for history of fever. presence of splenomegaly, blood smear and anti-p. uiuax antibody test by immunofluorescent antibody test (IFAT) . Except for the above two patients, only one case rrvraled a marginal tiler of IFAT. No other positive findings of vivax malaria were found. In the results of this local survey. no move cases of vivax malaria were revealed except the two sporadic cases.

• Clinical and Experimental Pediatrics
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• v.50 no.10
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• pp.1024-1029
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• 2007

Costello syndrome (CS) is a rare multiple congenital abnormality syndrome characterized by a typical coarse face, developmental delay, psychomotor and growth retardation, neurologic abnormalities, cardiac and cutaneous anomalies, severe feeding difficulties with postnatal growth failure, and increased risk of tumors. Since Costello first described it in 1971 and again in 1977, over 100 cases have been reported worldwide. It was recently shown that CS is a congenital condition caused by heterozygous de novo missense mutations affecting the codon for glycine 12 or 13 of the HRAS gene. We experienced three unrelated cases with coarse faces, developmental delays, short statures, macrocephaly, and redundant skin with deep palmar and plantar creases, hypertrophic cardiomyopathy and atrial tachycardia, which are characteristic of CS.

• Clinics in Shoulder and Elbow
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• v.1 no.2
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• pp.167-174
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• 1998

Since the first description by Cotton, there have been sporadic reports about the inferior subluxation of the shoulder. Nevertheless there is still a lack of consensus regarding the mechanism of occurrence, evolution and treatment. We have experienced six cases of inferior sublusation(five cases after trauma and one case after surgery) which resolved over time. Analysis of the clinical informations including serial radiographs, data from clinical examination and electromyography(EMG) revealed the following results. All the five post-traumatic inferior subluxations were noted in women with an average age of 59 years after direct trauma resulting in fracture of the proxiaml hrnerus(4) or clavicle(1), of which nerve injury was proven by EMG in three. One case occurred after Bankart repair by stretch injury to the axillary nerve. The presenting symptom was unusually severe pain on passive motion. Absence of anterior or posterior displacement wasl confirmed by radiographs. All the cases seemed to have delayed onset of subluxation except one. The subluxed hu.meral head was concentrically reduced at an average 11 weeks(range 3-23 weeks) from the supposed time of occurrence and the acromiohumeral interval measUred on the standing anteroposterior radiographs decreased to 9.4 mm ftom 23 mm. Improvement of pain paralled the reduction. In conclusion, the most common cause of transient inferior subluxation was nerve injury in ou~ series and the prognosis was excellent, however protraction of recovery or leaving permanent subluxation would be possible if .the injured nerve is unrecoverable.

• Journal of Genetic Medicine
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• v.9 no.2
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• pp.98-100
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• 2012

Holt-Oram syndrome (HOS) is the most common heart-hand syndrome, which is inherited in an autosomal dominant manner, but most cases are sporadic. This condition is characterized by upper-extremity malformations involving radial-ray, thenar, and carpal bones, and congenital heart malformations including atrial septal defect and ventricular septal defect. It is caused by mutations in the TBX5 gene. In this report, a Korean case with HOS is described, which is inherited from her father. A novel nonsense mutation, $p.Glu294^*$, was identified. This is the first Korean case with HOS confirmed by genetic testing.

• Parasites, Hosts and Diseases
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• v.51 no.6
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• pp.613-619
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• 2013

Angiostrongyliasis, caused by Angiostrongylus cantonensis infection, is a food-borne parasitic disease. Its larvae evoke eosinophilic inflammation in the central nervous system, but can also cause pathological changes in the eyes. Among ocular angiostrongyliasis cases, the incidence of optic neuritis is low and only few sporadic reports exist. Some patients with optic neuritis developed obvious hypopsia or even vision loss, which would seriously influence the quality of life of patients. Prompt treatment of optic neuritis caused by A. cantonensis is the key factor for minimizing the incidence of serious complications of this disease. In this review, we first provide a comprehensive overview of ocular angiostrongyliasis, and then focus on the clinical features of optic neuritis caused by A. cantonensis.

• KIEAE Journal
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• v.17 no.4
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• pp.89-94
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• 2017

Purpose: Condensation in walk-in closets attached to apartment bathroom has been known as an emerging issue that may threat occupants' comfort and health. Despite a number of design guidelines and enforcements to prevent condensation, condensation issues may still occur depending on various cases and scenarios. We aim to identify what condensation scenarios may lead to walk-in closet condensation and/or worse the existing condensation issues. Method: First we choose an actual walk-in closet of an apartment that suffers from sporadic condensation and resulting mold and mildew. Then we observe its relative humidity and temperature after the bathroom is used, in which excessive vapor is thought to be transported to the walk-in closet. We analyze Temperature Difference Ratio - a domestic indicator of condensation occurrence, and dew point temperature to compare it with surface temperature using 2D heat transfer simulation upon various condensation scenarios. Result: TDR of the test walk-in closet turns out be OK despite mold and mildew actually occurring. Hot water pipe installed in the floor would greatly reduce condensation. If hot water pipe in the upper floor, however, is not used, or hot water pipe of the closet is turned off during swing seasons, it is expected that condensations may still occur.

• Parasites, Hosts and Diseases
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• v.48 no.4
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• pp.297-301
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• 2010

Recently, emerging waterbome protozoa, such as microsporidia, Cyclospora, and Cryptosporidium, have become a challenge to human health worldwide. Rapid, simple, and economical detection methods for these major waterborne protozoa in environmental and clinical samples are necessary to control infection and improve public health. In the present study, we developed a multiplex PCR test that is able to detect all these 3 major waterborne protozoa at the same time. Detection limits of the multiplex PCR method ranged from $10^1$ to $10^2$ oocysts or spores. The primers for microsporidia or Cryptosporidium used in this study can detect both Enterocytozoon bieneusi and Encephalitozoon intestinalis, or both Cryptosporidium hominis and Cryptosporidium paNum, respectively. Restriction enzyme digestion of PCR products with BsaBI or BsiEI makes it possible to distinguish the 2 species of microsporidia or Cryptosporidium, respectively. This simple, rapid, and cost-effective multiplex PCR method will be useful for detecting outbreaks or sporadic cases of waterborne protozoa infections.