1.Papenieau Bone Graft In Osteomyelitis Non Union Long Bone Fracture: Case Series
Aziz MS ; Hudzairy A ; Tan BS ; Yap K ; Lee CS
Malaysian Orthopaedic Journal 2018;12(Supplement A):220-
2.Introduction of Korean Senior Products and Standards
Kyuyeoun Lee ; Hyun Kyoon Lim ; Mie Choi ; Hyejin Lee ; Nora Lee ; Baohua WANG ; Chuan HE
Chinese Journal of Rehabilitation Theory and Practice 2011;17(6):592-594
It is aging fast in Korea like other Asian countries. Social care systems, human resources, and appropriate senior products for elderly people are important factors to keep the society ealthy and productive. In this paper, we introduce the current status of senior products and standards in Korea including the Korea Senior Product Association (KSPA); present general status of the senior industry in Korea,long-term care insurance program for the elderly as well as welfare items; discuss problems and importance of standardization in the senior industry, the scope of senior products, and the current status of standardization.
3.A clinicopathologic study on the diffuse malignant lymphoma: a morphologic and immunophenotypic analysis in 62 patients at Harbor-UCLA Medical Center.
Ju Hie LEE ; Nora CJ SUN ; Walid SALAHI ; Hong CHEN ; Moon Ho YANG
Journal of Korean Medical Science 1992;7(3):204-313
In order to compare the prognoses of patients with diffuse malignant lymphomas on the basis of histology and immunophenotypes, we retrospectively studied 62 cases of diffuse lymphoma arising in lymph nodes. We also evaluated the reactivity patterns of monoclonal antibodies (MoAb) LN1, LN2 and LN3 to determine the criteria for making a differential diagnosis in B cell lymphomas. The immunologic phenotypes were determined by the avidin biotin peroxidase complex method, using frozen or paraffin fixed tissues. The majority (66.3%) were B cell with the remaining 20.9% being T cell and 12.9% were non-B, non-T cell lineage. Immunological heterogeneity was found especially in the mixed small and large cell and the immunoblastic lymphomas. There was no significant difference between B- and T-cell lymphomas with respect to survival and death (P > 0.05). Histologically 79% (49/62) of the lymphoma was large cell and 21% (13/62), small cell lymphoma. There was a difference in prognosis between low, intermediate and high-grade of lymphomas. However there were no significant differences among the subtypes of the diffuse aggressive lymphomas. Factors associated with poor prognosis were advanced stages (P < 0.025) and histology of the malignant lymphomas. MoAb LN1, LN2 and LN3 gave positive staining in 83.3%, 91.7% and 60% of B cell lymphomas, respectively. The most common phenotypic pattern in B cell lymphomas was LN1+, LN2+, LN3+/-, suggestive of follicular center cell origin. As a panel, phenotypic patterns of MoAb LN1, LN2 and LN3 may be useful in differentiation of follicular center cell lymphoma from others.
Adolescent
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Adult
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Aged
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Aged, 80 and over
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Antigens, CD/biosynthesis
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Antigens, Differentiation, B-Lymphocyte/biosynthesis
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Child
;
Female
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Follow-Up Studies
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Histocompatibility Antigens Class II/biosynthesis
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Humans
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Immunoenzyme Techniques
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Immunophenotyping
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Lymphoma, B-Cell/immunology
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Lymphoma, Non-Hodgkin/immunology/*pathology
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Male
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Middle Aged
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Neoplasm Staging
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Prognosis
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Sialyltransferases/biosynthesis
4.Dilemma in the management of methanol poisoning at a district hospital in Malaysia
Qin Jian Low ; Lee Karl Thien ; Tzyy Huei Lim ; Carwen Siaw ; Seng Wee Cheo ; Nin Ern Tan ; Qamruddin Reza Murad
The Medical Journal of Malaysia 2020;75(4):442-444
There are increasing reports of methanol poisoning (MP)
incidence worldwide. In Malaysia, the largest first methanol
poisoning was reported in Selangor in 2013 with a total of 41
patients and cluster of cases been reported from the country
since then. Often MP involved adulterated alcohol containing
more than the legal permissible concentration of methanol.
Methanol is rapidly absorbed and metabolised into formic acid
which causes variable symptoms of the central nervous system
such as blindness, seizure, coma and gastrointestinal
disturbances. Mortality could reach up to 83% as reported
using the coma state, pH and pCO2 level in the worst-case
scenario.
5.Spontaneous Oesophageal Perforation: A Case Report
Shu Ann Hon ; Jan Jan Chai ; Lian Thai Lee ; Qin Jian Low
Malaysian Journal of Medicine and Health Sciences 2020;16(No.2):326-328
A 49-year-old gentleman presented with epigastric pain for one day associated with one episode of vomiting and dyspnoea. Respiratory examination showed reduced breath sound over his left lower zone. He was treated as left spontaneous pneumothorax and left lung empyema requiring left chest tube insertion and intravenous antibiotics. His left pleural fluid biochemistry result was exudative while its centrifuge showed empyema. In ward, we noticed food material draining from his left chest tube during feeding. An urgent contrast enhanced computed tomography (CECT) thorax showed a left oesophageal-pleural fistula with possible broncho-oesophageal fistula. During oesophagogastroduodenoscopy (OGDS), air bubbles were seen in his left under-water chest drainage during air-insufflation of the oesophagus. The revised diagnosis was Boerhaave syndrome. He was treated with an esophageal stent to cover the perforation and a left lung decortication via video assisted thoracoscopic surgery (VATS) for his left empyema. He improved and was discharged well.
6.Features of a Chinese family with cerebral cavernous malformation induced by a novel CCM1 gene mutation.
Xue WANG ; Xue-Wu LIU ; Nora LEE ; Qi-Ji LIU ; Wen-Na LI ; Tao HAN ; Kun-Kun WEI ; Shan QIAO ; Zhao-Fu CHI
Chinese Medical Journal 2013;126(18):3427-3432
BACKGROUNDFamilial cerebral cavernous malformations (CCMs), characterized by hemorrhagic stroke, recurrent headache and epilepsy, are congenital vascular anomalies of the central nervous system. Familial CCMs is an autosomal dominant inherited disorder and three CCM genes have been identified. We report a Chinese family with CCMs and intend to explore clinical, pathological, magnetic resonance imaging (MRI) features and pathogenic gene mutation of this family.
METHODSTotally 25 family members underwent brain MRI examination and clinical check. Two patients with surgical indications had surgical treatment and the specimens were subjected to histopathological and microstructural examination. In addition, polymerase chain reaction (PCR) and direct sequencing were performed with genomic DNA extracted from 25 family members' blood samples for mutation detection.
RESULTSBrain MRI identified abnormal results in seven family members. All of them had multiple intracranial lesions and four cases had skin cavernous hemangioma. T2-weighted sequence showed that the lesions were typically characterized by an area of mixed signal intensity. Gradient-echo (GRE) sequence was more sensitive to find micro-cavernous hemangiomas. There was a wide range in the clinical manifestations as well as the age of onset in the family. The youngest patient was an 8-year-old boy with least intracranial lesions. Histopathological and microstructural examination showed that CCMs were typically discrete multi-sublobes of berry-like lesions, with hemorrhage in various stages of illness evolution. They were formed by abnormally enlarged sinusoids and the thin basement membranes. A novel T deletion mutation in exon 14 of CCM1 gene was identified by mutation detection in the seven patients. But unaffected members and healthy controls did not carry this mutation.
CONCLUSIONSThe clinical manifestations were heterogenic within this family. We identified a novel mutation (c.1396delT) was the disease-causing mutation for this family and extended the mutational spectrum of CCMs.
Adult ; Animals ; Female ; Hemangioma, Cavernous, Central Nervous System ; diagnosis ; genetics ; Humans ; KRIT1 Protein ; Magnetic Resonance Imaging ; Male ; Microtubule-Associated Proteins ; genetics ; Middle Aged ; Mutation ; Pedigree ; Proto-Oncogene Proteins ; genetics
7.Validation and Clinical Application of ONCOaccuPanel for Targeted Next-Generation Sequencing of Solid Tumors
Moonsik KIM ; Changseon LEE ; Juyeon HONG ; Juhee KIM ; Ji Yun JEONG ; Nora Jee-Young PARK ; Ji-Eun KIM ; Ji Young PARK
Cancer Research and Treatment 2023;55(2):429-441
Purpose:
Targeted next-generation sequencing (NGS) is widely used for simultaneously detecting clinically informative genetic alterations in a single assay. Its application in clinical settings requires the validation of NGS gene panels. In this study, we aimed to validate a targeted hybridization capture-based DNA panel (ONCOaccuPanel) using the Illumina MiSeq sequencing platform. The panel allows the simultaneous detection of single-nucleotide variants (SNVs), insertions, deletions, and copy number changes of 323 genes and fusions of 17 genes in solid tumors.
Materials and Methods:
We used 16 formalin-fixed paraffin-embedded (FFPE) tumor samples with previously known genetic mutations and one reference material (HD827) for validation. Moreover, we sequenced an additional 117 FFPE tumor samples to demonstrate the clinical utility of this panel.
Results:
Validation revealed a 100% positive percentage agreement and positive predictive value for the detection of SNVs, insertions, deletions, copy number changes, fusion genes, and microsatellite instability–high types. We observed high levels of reproducibility and repeatability (R2 correlation coefficients=0.96-0.98). In the limit of detection assessment, we identified all clinically relevant genes with allele frequencies > 3%. Furthermore, the clinical application of ONCOaccuPanel using 117 FFPE samples demonstrated robust detection of oncogenic alterations. Oncogenic alterations and targetable genetic alterations were detected in 98.2% and 27.4% cases, respectively.
Conclusion
ONCOaccuPanel demonstrated high analytical sensitivity, reproducibility, and repeatability and is feasible for the detection of clinically relevant mutations in clinical settings.
8.Impact of Lactate Dehydrogenase and Hemoglobin Levels on Clinical Outcomes in Patients With Paroxysmal Nocturnal Hemoglobinuria: Results From the National Korean PNH Registry
Jun Ho JANG ; Jin Seok KIM ; Cindy Thiow Koon LIM ; Nora J. KLEINMAN ; Karl-Johan MYREN ; Alice WANG ; Yogesh PATEL ; Jong Wook LEE
Journal of Korean Medical Science 2024;39(8):e81-
Background:
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare hematologic disorder caused by uncontrolled terminal complement activation, which leads to intravascular hemolysis (IVH), thromboembolism (TE), renal failure, and premature mortality.
Methods:
We performed a secondary analysis of data collected from patients enrolled in the Korean National PNH Registry to assess the relative importance of risk factors, specifically lactate dehydrogenase (LDH) and hemoglobin (Hb), in predicting the incidence of TE, impaired renal function, and death in complement inhibitor-naïve patients with PNH.
Results:
Multivariate regression modeling indicated that LDH ≥ 1.5 × upper limit of normal (ULN), male sex, and pain were associated with increased risk of TE (P = 0.016, 0.045, and 0.033, respectively), hemoglobinuria and pain were associated with an increased risk of impaired renal function (P = 0.034 and 0.022, respectively), and TE was associated with an increased incidence of death (P < 0.001). Hb < 8 g/dL was not a predictor of TE, impaired renal function, or death in multivariate regression analyses. Standardized mortality ratio analysis indicated that LDH ≥ 1.5 × ULN (P < 0.001), Hb < 8 g/dL (P < 0.001), and Hb ≥ 8 g/dL (P = 0.004) were all risk factors for death; in contrast, patients with LDH < 1.5 × ULN had similar mortality to the general population.
Conclusion
In complement inhibitor-naïve patients with PNH, LDH ≥ 1.5 × ULN was a significant predictor of TE, and TE was a significant predictor of death. Hb was not a significant predictor of TE, impaired renal function, or death. Therefore, controlling IVH will improve clinical outcomes for patients with PNH.
9.A Case of Severe Falciparum Malaria in a Returned Traveler
Low Qin Jian ; Lau Wai Kar ; Lim Tzyy Huei ; Lee Ri An ; Cheo Seng Wee
Malaysian Family Physician 2020;15(3):86-89
Primary care providers should be alert to travel-related infections. Around 10-40% of returning
travelers from all destinations and 15-70% of travelers from tropical settings experience ill health,
either overseas or upon returning home.1 A systematic approach concentrating on possible
infections should be undertaken based on the patient’s travel location, immunization history,
presence of malaria chemoprophylaxis at the destination, other potential exposures, incubation
period, and clinical presentation.2-3 The World Health Organization (WHO) website is constantly
being updated on specific travel-related infections and recent geographical outbreaks. In this paper,
we report a case of severe falciparum malaria in a returned traveler.
10.An Unusual Presentation of Neurotized Congenital Giant Melanocytic Nevus and Type 1 Neurofibromatosis: A Diagnostic Challenge
Qin Jian Low ; Tzyy Huei Lim ; Ri An Lee ; Seng Wee Cheo ; Noor &lsquo ; Ain Mohd Nasir ; Ikmal Hisyam Bakrin ; Wen Yee Evelyn Yap
Malaysian Journal of Medicine and Health Sciences 2022;18(No.1):372-374
Among the three subtypes of neurofibromatosis are type 1 and 2 neurofibromatosis and schwannomatosis, von
Recklinghausen disease also known as type 1 neurofibromatosis has an autosomal dominant inheritance. It is the
commonest form as and presents with numerous café-au-lait macules and neurofibromas. Giant congenital melanocytic nevus (CGMN) on the other hand is characterized by a melanocytic proliferation that present at birth. CGMN
develops due to a defective embryonic pigment cell (melanocyte) precursors development and are often present at
birth. Giant congenital melanocytic nevus (CGMN) and type 1 neurofibromatosis may occur together rarely. Clinicians should be aware of the rare presentation of both CGMN and type 1 neurofibromatosis in a patient.