{"title":"Clinical and genetic aspects of Charcot-Marie-Tooth disease subtypes","authors":"S. H. Nam, Byung-Ok Choi","doi":"10.23838/PFM.2018.00163","DOIUrl":"https://doi.org/10.23838/PFM.2018.00163","url":null,"abstract":"Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neuropathies and is both genetically and clinically heterogeneous, with variable inheritance modes. With regard to clinical and genetic aspects, CMT is divided into several subtypes, including CMT1, CMT2, CMT3, CMT4, CMT5, CMT6, X-linked CMT, and intermediate CMT. Up to date, more than 90 causative genes for CMT have been identified. Furthermore, previous animal studies reported some molecules to have therapeutic effects on specific CMT subtypes, depending on the underlying genetic cause. Therefore, accurate genetic diagnosis is of crucial importance when performing customized therapy. Finally, recent investigations on induced pluripotent stem cells expanded the possibility of both patient-specific cell therapy and drug discovery. The current review focuses on the latest classification updates for accurate CMT diagnosis.","PeriodicalId":42462,"journal":{"name":"Precision and Future Medicine","volume":" ","pages":""},"PeriodicalIF":0.5,"publicationDate":"2019-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43464753","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Implication of hepatocyte dedifferentiation in pathogenesis and treatment of hepatocellular carcinoma","authors":"Hyunsoo Kim, Eun-Ji Park, Chang-Woo Lee","doi":"10.23838/PFM.2018.00135","DOIUrl":"https://doi.org/10.23838/PFM.2018.00135","url":null,"abstract":"Liver cancer is the fifth most common malignancy worldwide and the third most common cause of cancer-related death. Five hundred million individuals are infected by hepatitis B or C virus. Of these cases, some will progress to liver failure and cancer. Systemic treatments against liver cancer show poor efficacy mainly because of high resistance and poor response to therapeutics and high degree of tumor heterogeneity. Although progress has been made in combinational treatment of liver cancer, no effective disease-modifying therapies for hepatocellular carcinoma (HCC) have been developed to date. A comprehensive understanding of HCC pathogenesis will enable identification of biomarkers and therapeutic targets and provide insights into mechanism-based strategies for HCC treatment. However, the identification of cellular origins of liver cancer remains a challenging issue. This review focuses on HCC heterogeneity that escapes current treatment strategies and causes disease recurrence to provide a better understanding for the biology of liver cancer.","PeriodicalId":42462,"journal":{"name":"Precision and Future Medicine","volume":" ","pages":""},"PeriodicalIF":0.5,"publicationDate":"2019-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44123248","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Eun‐Hyeok Choi, Inwu Yu, Jaehong Park, C. Yoon, O. Bang
{"title":"Reversible cerebral vasoconstriction syndrome without typical thunderclap headache: highresolution magnetic resonance imaging features","authors":"Eun‐Hyeok Choi, Inwu Yu, Jaehong Park, C. Yoon, O. Bang","doi":"10.23838/PFM.2018.00170","DOIUrl":"https://doi.org/10.23838/PFM.2018.00170","url":null,"abstract":"Reversible cerebral vasoconstriction syndrome (RCVS) is characterized by sudden onset severe headache with or without focal neurologic deficits and is accompanied by segmental or multifocal intracranial arterial vasospasms that resolve within 3 months. The typical RCVS has thunderclap headache but patients with RCVS without this type of headache have been reported. Herein we introduce an unusual case of RCVS without thunderclap headache, together with typical high-resolution magnetic resonance imaging (HR-MRI) features of RCVS showing the possible mechanisms of this condition. The present case suggests that HR-MRI features like dynamic negative remodeling but no enhancement may be a suspicious sign for RCVS, especially in cases with atypical presentation. HR-MRI can be helpful in direct visualization of the vasoconstriction of RCVS and differential diagnosis of other diseases, possibly even without serial examinations. Further research should be performed to test the diagnostic accuracy of HR-MRI in patients with RCVS.","PeriodicalId":42462,"journal":{"name":"Precision and Future Medicine","volume":" ","pages":""},"PeriodicalIF":0.5,"publicationDate":"2018-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46011559","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Investigative strategies on lymphatic vessel modulation for treating lymphedema in future medicine","authors":"Raghu P. Kataru, B. Mehrara, Honsoul Kim","doi":"10.23838/PFM.2018.00142","DOIUrl":"https://doi.org/10.23838/PFM.2018.00142","url":null,"abstract":"Impairment of lymphatic drainage may result in the development of lymphedema, a life-long disorder that results in significant morbidity. However, although lymphedema is common, current treatments are palliative in nature aiming to decrease swelling and control symptoms rather than cure the underlying problem. However, as our understanding in lymphatic biology increases, recent translational studies have described strategies that induce lymphangiogenesis to correct the underlying pathologic problem. These strategies can be classified into three categories: Increase the prolymphangiogenic drive (exogenous vascular endothelial growth factor C [VEGF-C] protein administration or VEGF-C gene delivery); suppress inflammation and inhibit production of antilymphangiogenic molecules (tacrolimus topical administration or leukotriene B4 antagonism); or cell therapy. In this review, we will briefly discuss the mechanisms regulating lymphangiogenesis along with recent translational studies that adopt strategies to modulate these mechanisms. We consider these strategies as candidate therapeutic options that may be in the near future used for the clinical treatment of lymphedema.","PeriodicalId":42462,"journal":{"name":"Precision and Future Medicine","volume":" ","pages":""},"PeriodicalIF":0.5,"publicationDate":"2018-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49246703","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Fast upper airway magnetic resonance imaging for assessment of speech production and sleep apnea","authors":"Yoon-Chul Kim","doi":"10.23838/PFM.2018.00100","DOIUrl":"https://doi.org/10.23838/PFM.2018.00100","url":null,"abstract":"The human upper airway is involved in various functions, including speech, swallowing, and respiration. Magnetic resonance imaging (MRI) can visualize the motion of the upper airway and has been used in scientific studies to understand the dynamics of vocal tract shaping during speech and for assessment of upper airway abnormalities related to obstructive sleep apnea and swallowing disorders. Acceleration technologies in MRI are crucial in improving spatiotemporal resolution or spatial coverage. Recent trends in technical aspects of upper airway MRI are to develop state-of-the-art image acquisition methods for improved dynamic imaging of the upper airway and develop automatic image analysis methods for efficient and accurate quantification of upper airway parameters of interest. This review covers the fast upper airway magnetic resonance (MR) acquisition and reconstruction, MR experimental issues, image analysis techniques, and applications, mainly with respect to studies of speech production and sleep apnea.","PeriodicalId":42462,"journal":{"name":"Precision and Future Medicine","volume":" ","pages":""},"PeriodicalIF":0.5,"publicationDate":"2018-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47653154","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Functional roles of heterogeneous nuclear ribonucleoprotein K in post-transcriptional gene regulation","authors":"C. H. Shin, Hyeon-ho Kim","doi":"10.23838/PFM.2018.00107","DOIUrl":"https://doi.org/10.23838/PFM.2018.00107","url":null,"abstract":"Since it is widely accepted that the accumulation of genetic alterations is the main cause of cancer, understanding how cancer-associated genes are regulated is crucial to the development of cancer therapies. As one of important RNA-binding proteins (RBPs), heterogeneous nuclear ribonucleoprotein K (hnRNPK), is known to regulate the expression of target genes involved in various pathways, such as transcription, splicing, and translation. HnRNPK is also closely associated with cancer progression, including the acquisition of metastatic potential. At the post-transcriptional level, gene expression is determined by competitive or cooperative interactions between trans-acting factors including RBPs and non-coding RNAs (ncRNAs) which are capable of binding to cis-elements in target genes. In this review, we discuss the roles of hnRNPK in post-transcriptional gene regulation. The regulation of cancer-associated genes (oncogenes and tumor suppressors) via crosstalk between hnRNPK and ncRNAs such as microRNAs and long ncRNAs is described in detail. This review highlights how hnRNPK may be a promising target for the development of cancer therapeutics.","PeriodicalId":42462,"journal":{"name":"Precision and Future Medicine","volume":" ","pages":""},"PeriodicalIF":0.5,"publicationDate":"2018-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48256237","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
K. Peck, Tae Jung Kim, Min A Lee, K. Lee, Joungho Han
{"title":"Pneumonia in immunocompromised patients: updates in clinical and imaging features","authors":"K. Peck, Tae Jung Kim, Min A Lee, K. Lee, Joungho Han","doi":"10.23838/PFM.2018.00121","DOIUrl":"https://doi.org/10.23838/PFM.2018.00121","url":null,"abstract":"Pulmonary infection is a major cause of mortality in immunocompromised patients. Immunosuppression can be divided into neutropenia, humoral immunodeficiency, and cellular immunodeficiency. Pulmonary infection in these patients typically depends on the type, duration, and degree of immunodeficiency. Pulmonary infection in immunocompromised patients is often nonspecific, both clinically and radiologically, but a certain type of pulmonary infection may provide typical radiological features helpful for definitive diagnosis. Therefore, it is essential to incorporate clinical information into radiological features to narrow down the differential diagnosis and to potentially reduce the morbidity and mortality associated with pulmonary infections in immunocompromised patients.","PeriodicalId":42462,"journal":{"name":"Precision and Future Medicine","volume":" ","pages":""},"PeriodicalIF":0.5,"publicationDate":"2018-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46284105","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ji Sun Kim, Minjik Kim, Sung Hoon Kang, Kyungmi Oh, S. Suh, W. Seo
{"title":"The associations between bone mineral density and cerebral white matter hyperintensity in elderly stroke patients","authors":"Ji Sun Kim, Minjik Kim, Sung Hoon Kang, Kyungmi Oh, S. Suh, W. Seo","doi":"10.23838/PFM.2018.00114","DOIUrl":"https://doi.org/10.23838/PFM.2018.00114","url":null,"abstract":"Purpose: Osteoporosis is an important senile disease and has significant relationship with ischemic stroke and cerebral small vessel disease (SVD). Correlation between bone mineral density (BMD) and cerebral white matter hyperintensity on magnetic resonance imaging were analyzed to investigate the relationship between osteoporosis and cerebral SVD. Methods: Medical records of acute stroke patients with age ≥65 years were retrospectively collected from single center. Cerebral white matter hyperintensity was classified into two categories, periventricular white matter hyperintensity (PWMH) and deep white matter hyperintensity (DWMH), and the severity was graded according to maximal lesion size. Association between the clinical factors including BMD and the severity of cerebral white matter hyperintensity was analyzed. Results: Four hundred eight patients were included in the study. High severity grade of both MWMH and DWMH was independently correlated with low BMD. Additionally, high PWMH grade was correlated with old age and high serum homocysteine. High DWMH grade was correlated with old age, atrial fibrillation history and high serum total calcium. Conclusion: Low BMD was associated with a high severity of cerebral white matter hyperintensity in elderly Asian stroke patients, independent of other clinical factors.","PeriodicalId":42462,"journal":{"name":"Precision and Future Medicine","volume":" ","pages":""},"PeriodicalIF":0.5,"publicationDate":"2018-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47952337","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Atypical clinical presentations in right hemispheric infarcts: complex stories beyond neurological examination and diffusion-weighted magnetic resonance imaging","authors":"Jaeho Kim, Jaehong Park, H. Kang, O. Bang","doi":"10.23838/PFM.2018.00093","DOIUrl":"https://doi.org/10.23838/PFM.2018.00093","url":null,"abstract":"Although, both neurological examination and neuroimaging represent the main methods for the anatomical localization of lesions in stroke patients, atypical anatomical-functional representation of cortical lateralized syndromes can occur. Herein, we introduce three cases of atypical representation of left hemispheric syndromes with right hemispheric lesions and we explore the possible mechanisms underlying such disorders and their clinical implications.","PeriodicalId":42462,"journal":{"name":"Precision and Future Medicine","volume":" ","pages":""},"PeriodicalIF":0.5,"publicationDate":"2018-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43615184","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Infectious pneumonia in immunocompetent patients: updates in clinical and imaging features","authors":"K. Lee, Tae Jung Kim, K. Peck, Joungho Han","doi":"10.23838/PFM.2018.00079","DOIUrl":"https://doi.org/10.23838/PFM.2018.00079","url":null,"abstract":"Morphologically pneumonia is usually classified into lobar pneumonia, bronchopneumonia, and interstitial pneumonia. Chronic pneumonia is also a kind of pneumonia in immunocompetent and mildly immunocompromised patients. Specific organisms may be involved in community-acquired pneumonia (CAP) according to patients’ age or underlying conditions. The organisms involved in CAP are different from those in hospital-acquired pneumonia. Mixed pneumonia includes septic pneumonia, lung abscess, and focal organizing pneumonia. The role of imaging in pneumonia includes the detection or exclusion of the presence of pneumonia, narrowing down of differential diagnosis of the pneumonia from other lung conditions, planning of further diagnostic procedure, and the assessment of treatment response with follow-up studies. New drugs for pneumonia are expected to open a door widely for antibiotic treatment for various pneumonias.","PeriodicalId":42462,"journal":{"name":"Precision and Future Medicine","volume":" ","pages":""},"PeriodicalIF":0.5,"publicationDate":"2018-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44235773","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}