Long Short-Term Memory-Based Deep Learning Models for Screening Parkinson’s Disease Using Sequential Diagnostic Codes

Background@#and Purpose It is challenging to detect Parkinson’s disease (PD) in its early stages, which has prompted researchers to develop techniques based on machine learning methods for detecting PD. However, previous studies did not fully incorporate the slow progression of PD over a long period of time nor consider that its symptoms occur in a time-sequential manner. Contributing to the literature on PD, which has relied heavily on cross-sectional data, this study aimed to develop a method for detecting PD early that can process time-series information using the long short-term memory (LSTM) algorithm. @*Methods@#We sampled 926 patients with PD and 9,260 subjects without PD using medicalclaims data. The LSTM algorithm was tested using diagnostic histories, which contained the diagnostic codes and their respective time information. We compared the prediction power of the 12-month diagnostic codes under two different settings over the 4 years prior to the first PD diagnosis. @*Results@#The model that was trained using the most-recent 12-month diagnostic codes had the best performance, with an accuracy of 94.25%, a sensitivity of 82.91%, and a specificity of 95.26%. The other three models (12-month codes from 2, 3, and 4 years prior) were found to have comparable performances, with accuracies of 92.27%, 91.86%, and 91.81%, respectively.The areas under the curve from our data settings ranged from 0.839 to 0.923. @*Conclusions@#We explored the possibility that PD specialists could benefit from our proposed machine learning method as an early detection method for PD.

Mouse Cre-LoxP system: general principles to determine tissue-specific roles of target genes / 한국실험동물학회지

Genetically engineered mouse models are commonly preferred for studying the human disease due to genetic and pathophysiological similarities between mice and humans. In particular, Cre-loxP system is widely used as an integral experimental tool for generating the conditional. This system has enabled researchers to investigate genes of interest in a tissue/cell (spatial control) and/or time (temporal control) specific manner. A various tissue-specific Cre-driver mouse lines have been generated to date, and new Cre lines are still being developed. This review provides a brief overview of Cre-loxP system and a few commonly used promoters for expression of tissue-specific Cre recombinase. Also, we finally introduce some available links to the Web sites that provides detailed information about Cre mouse lines including their characterization.

A Case of del(16)(q22) in a Patient with Acute Myeloid Leukemia with Complex Karyotype / 대한진단검사의학회지

Inversion of chromosome 16 [inv(16)(p13.1q22)] and t(16;16)(p13.1;q22) are associated with acute myelomonocytic leukemia (AMML) with eosinophilia and a favorable prognosis. On the other hand, patients with del(16)(q22) usually present with MDS or chronic myelomonocytic leukemia (CMML), which can evolve to AMML without eosinophilia, and this chromosomal aberration is associated with older age, a complex karyotype, and a poor prognosis. We report a case of AML with del(16)(q22) which showed a complex karyotype, absence of eosinophilia in bone marrow study and a poor response to chemotherapy.

Late-onset Neutropenia Following Rituximab Therapy as a Treatment of Diffuse Large B-cell Lymphoma: A Single Institution Study / 대한진단검사의학회지

BACKGROUND: Late-onset neutropenia (LON) following rituximab therapy has been reported in recent years. However, its incidence has not been reported in Korea. The aim of this study is to investigate the incidence of LON after rituximab therapy in Korean patients with diffuse large B-cell lymphoma (DLBCL). METHODS: Ninety-eight cases of DLBCL treated with rituximab between 2004 and 2008 were evaluated. We identified LON as defined by the neutrophil count of <1.5x10(9)/L without apparent cause after the recovery of neutrophil count following rituximab therapy. Bone marrow aspiration and biopsy specimens at the time of neutropenia were available for retrospective review in only 5 of the patients. RESULTS: LON was observed in 15 (15.3%) of the 98 patients. In the bone marrow specimens of the 5 patients, promyelocytes were relatively increased and the maturation index of the granulopoiesis was 2:1-3:1, which reflects maturation arrest. CONCLUSIONS: The incidence of LON following rituximab therapy was 15.3% in Korean patients with DLBCL. Although there are several hypotheses about the causative mechanisms of LON, we suggest that maturation arrest at the promyelocyte stage of granulopoiesis may be one of the mechanisms involved in the development of LON.

HDL Cholesterol Reduction during Rosiglitazone and Fenofibrate Treatment in a Type 2 Diabetes Mellitus Patient with Dyslipidemia / 대한진단검사의학회지

Thiazolidinediones (TZD), which are widely used as insulin sensitizers, and fibrates, which are lipid-lowering drugs, are used in the treatment of dyslipidemia that commonly accompanies diabetes. Several reports suggest elevated levels of high-density lipoprotein (HDL) cholesterol, but the paradoxical reduction of HDL cholesterol level during single or combined TZD and fibrate therapies has been occasionally reported. Herein, we report a case of paradoxical decrease in HDL cholesterol and apolipoprotein A-1 levels during rosiglitazone and fenofibrate treatment for the first time in Korea. The patient was a 56-yr-old man presenting with type 2 diabetes mellitus and dyslipidemia. His HDL cholesterol and apolipoprotein A-1 levels returned to normal after the cessation of fenofibrate therapy. Since diabetes is an established risk factor of cardiovascular diseases, low HDL cholesterol can be a key cause of concern for patients with diabetes. Therefore, HDL cholesterol level should be determined before and after starting TZD and/or fibrate therapy in diabetic patients.

Evaluation of Artus HBV LC PCR kit using SLAN Real-time PCR / 임상검사와정도관리

BACKGROUND: Real-time PCR has been widely used not only for quantification?of disease-related genes but also for detection of bacteria or viruses. In this study, we evaluated the performance of Artus HBV LC PCR kit (Qiagen, Hilden, Germany) using recently developed SLAN real-time PCR detection system (Shanghai Hongshi Medical Technology Co., Shanghai, China) to assess clinical relevance of the new instrument. METHODS: Precision, linearity and detection limit of Artus HBV LC PCR kit were evaluated using SLAN real-time PCR detection system. We also compared the SLAN real-time PCR detection system with LightCycler 1.5 (Roche Molecular System, Branchburg, NJ, USA) and ABI PRISM 7500 (Applied Biosystems, Foster City, CA, USA). WHO International Standard for HBV DNA Nucleic Acid Amplification Techniques (NIBSC code:97/750) and 40 HBV DNA positive sera were tested for this evaluation. RESULTS: Within-run and between-day coefficients of variation were 5.63%, 4.01% at 6.2x10(3) IU/mL and 1.12%, 0.80% at 2.1x10(1) IU/mL, respectively. Linearity was verified from 1.0x10(1) to 1.0x10(5) IU/mL (r(2)=1.000; slope=1.1412). Detection limit for HBV DNA was verified to be 7.54 IU/mL. It showed a good correlation with LightCycler 1.5 (r=0.9723) and ABI PRISM 7500 (r=0.9768). CONCLUSIONS: Artus HBV LC PCR kit using SLAN real-time PCR detection system showed a good precision, linearity and assay sensitivity. It correlated well with LightCycler 1.5 and ABI PRISM 7500. We conclude that it can be used in clinical laboratories for nucleic acid quantification.