Precision and Future Medicine最新文献_第3页

A new era of genetic diagnosis for short stature children: A review 身材矮小儿童基因诊断的新时代：综述

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Precision and Future Medicine Pub Date : 2022-12-31 DOI: 10.23838/pfm.2022.00142

Y. Kim

{"title":"A new era of genetic diagnosis for short stature children: A review","authors":"Y. Kim","doi":"10.23838/pfm.2022.00142","DOIUrl":"https://doi.org/10.23838/pfm.2022.00142","url":null,"abstract":"Children with short stature are often presented to pediatric endocrinologists. Short stature is defined as the height that is more than two standard deviations below the corresponding mean height for a specific age and sex in a reference population. Endocrine dysfunctions, including growth hormone deficiency/insensitivity, hypothyroidism, cortisol excess, precocious puberty, chronic disease (renal disease, diabetes mellitus, or inflammatory disease), and genetic disorders, should be assessed in patients presenting with short stature. In addition to medical history, physical examination, endocrine study, skeletal survey, and genetic testing are important for identifying the cause of short stature. Based on the next-generation sequencing analysis in patients with short stature, different genes that are unrelated to syndromic or non-syndromic short stature were identified. In particular, the genetic causes of short stature disrupting the growth plates and the pituitary-insulin-like growth factor axis have expanded. In recent years, the molecular level of chondrogenesis in the growth plates, including paracrine signals, extracellular matrix, and fundamental intracellular signals, has been reported. Moreover, new insights into the molecular pathogenesis of short stature are emerging. This article aimed to review the genetic causes of primary growth impairment in idiopathic short stature conditions.","PeriodicalId":42462,"journal":{"name":"Precision and Future Medicine","volume":" ","pages":""},"PeriodicalIF":0.5,"publicationDate":"2022-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49634510","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}

引用次数: 1

Monogenic diabetes: recent updates on diagnosis and precision treatment: A narrative review 单基因糖尿病:诊断和精确治疗的最新进展:叙述性回顾

IF 0.5

Precision and Future Medicine Pub Date : 2022-12-31 DOI: 10.23838/pfm.2022.00121

K. Jang

{"title":"Monogenic diabetes: recent updates on diagnosis and precision treatment: A narrative review","authors":"K. Jang","doi":"10.23838/pfm.2022.00121","DOIUrl":"https://doi.org/10.23838/pfm.2022.00121","url":null,"abstract":"Monogenic diabetes is commonly caused by single-gene mutations. This disease ranges from 1% to 5% in all cases of diabetes and is less affected by behavior and environment. Neonatal diabetes mellitus (NDM) and maturity-onset diabetes of the young (MODY) account for a major proportion of monogenic diabetes, while syndromic diabetes constitutes a smaller proportion. Diagnosis of monogenic diabetes has improved from being based on clinical phenotypes to molecular genetics, with significant advancement of genome sequencing skills. Precise medication for monogenic diabetes is based on genetic testing; therefore, an accurate diagnosis is essential. Due to the basic clinical criteria (diagnosed < 6 months of age), genetic testing and precision treatment for NDM are fast and uncomplicated. The MODY probability calculator was developed; however, it remains challenging to distinguish MODY from type 1 and 2 diabetes due to the lack of a single diagnostic criteria and genetic testing. Additionally, the high cost and complicated interpretation of these genetic test results add to these challenges. This review will discuss the distinct etiology and subgroups that contribute to predicting and treating clinical phenotypes associated with monogenic diabetes. Furthermore, we will review the recent Korean studies and suggest methods of prioritizing patient screening for genetic testing.","PeriodicalId":42462,"journal":{"name":"Precision and Future Medicine","volume":"1 1","pages":""},"PeriodicalIF":0.5,"publicationDate":"2022-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41479922","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}

引用次数: 0

Validation of the highly sensitive person scale for suicide screening in high-risk groups: A case-control study 高危人群自杀筛查高敏感人群量表的验证：一项病例对照研究

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Precision and Future Medicine Pub Date : 2022-12-13 DOI: 10.23838/pfm.2022.00100

Yaehee Cho, Vidal Yook, Young-Hwan Choi, Mi Jin Park, Hyunsoo Kim, H. Jeon

引用次数: 0

Suicidal ideation and long work hours by gender in Korean employees: The Kangbuk Samsung Workplace Mental Health Study: A cross-sectional study 韩国员工的自杀意念和长时间工作（按性别）：康布克三星工作场所心理健康研究：一项横断面研究

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Precision and Future Medicine Pub Date : 2022-09-30 DOI: 10.23838/pfm.2022.00086

Heejun Lee, S. Cho, Y. Shin, Dongwon Shin, Jae-Hyun Park, Mukyeong Kim, K. Oh, S. Jeon

{"title":"Suicidal ideation and long work hours by gender in Korean employees: The Kangbuk Samsung Workplace Mental Health Study: A cross-sectional study","authors":"Heejun Lee, S. Cho, Y. Shin, Dongwon Shin, Jae-Hyun Park, Mukyeong Kim, K. Oh, S. Jeon","doi":"10.23838/pfm.2022.00086","DOIUrl":"https://doi.org/10.23838/pfm.2022.00086","url":null,"abstract":"Purpose: This study investigated the relationship between increased working hours and suicidal ideation among Korean full-time employees by gender.Methods: Participants were employees from 54 companies and local government organizations in Korea, aged 19 to 68, who completed a self-reported questionnaire on sociodemographic factors, daily perceived stress, resilience, depressive symptoms, and suicidal ideation. Of the initial 15,360 respondents, participants who worked less than 40 hours were excluded. The final sample size was 9,326 (5,652 men, 3,674 women). Sociodemographic factors and psychological characteristics of participants with suicidal ideation were analyzed using Student’s t-tests and chi-square tests for continuous and categorical variables, respectively. Hierarchical logistic regression analyses were performed using suicidality as the dependent variable respectively for all participants, for male, and female. Furthermore, we used these results to compare differences between men and women associated with regard to long working hours to better understand how long working hours correlate with suicidal ideation; further, we examined the impact of gender on this relationship.Results: In univariate analyses, suicidal ideation was associated with increased working hours. Hierarchical logistic regression analyses of sociodemographic and psychological factors found no association between long working hours and suicidal ideation for the participants overall. However, they showed significant differences between men and women, such that long working hours were associated with suicidal ideation in men but were non-significant for women.Conclusion: Suicidal ideation is associated with long working hours among Korean male full-time workers, while other factors are more likely to lead to suicidal ideation among female workers. Suicide prevention measures for employees should thus be developed based on gender.","PeriodicalId":42462,"journal":{"name":"Precision and Future Medicine","volume":" ","pages":""},"PeriodicalIF":0.5,"publicationDate":"2022-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47989992","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}

引用次数: 1

Fibromuscular dysplasia of internal carotid arteries: features on high-resolution magnetic resonance imaging 颈内动脉纤维肌发育不良的高分辨率磁共振成像特征

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Precision and Future Medicine Pub Date : 2022-09-30 DOI: 10.23838/pfm.2022.00107

D. Lim, O. Bang, Nam Jin Heo, J. Cha, T. Jee

引用次数: 0

Clinical effectiveness and prospects of methylene blue: A systematic review 亚甲蓝的临床疗效和前景:系统综述

IF 0.5

Precision and Future Medicine Pub Date : 2022-09-29 DOI: 10.23838/pfm.2022.00079

Assel Seitkazina, Jin-Kyoung Yang, Sehoon Kim

引用次数: 2

Endotypes of Asian chronic rhinosinusitis with nasal polyps: A narrative review 亚洲慢性鼻窦炎伴鼻息肉的内分型:综述

IF 0.5

Precision and Future Medicine Pub Date : 2022-09-07 DOI: 10.23838/pfm.2022.00072

Gwanghui Ryu, H. Kim, Y. Jung, S. Hong

{"title":"Endotypes of Asian chronic rhinosinusitis with nasal polyps: A narrative review","authors":"Gwanghui Ryu, H. Kim, Y. Jung, S. Hong","doi":"10.23838/pfm.2022.00072","DOIUrl":"https://doi.org/10.23838/pfm.2022.00072","url":null,"abstract":"Chronic rhinosinusitis (CRS) is classified as CRS with nasal polyps (CRSwNP) and CRS without nasal polyps (CRSsNP). CRSwNP is a distinct phenotype with heterogeneous endotypes and complex pathophysiological mechanisms. Inflammation of the sinonasal mucosa that forms NPs causes symptoms such as nasal obstruction, rhinorrhea, and smell loss, and lowers patients’ quality of life. In recent years, researchers have attempted to elucidate the inflammatory endotypes of CRSwNP, and the inflammatory pattern of Asian CRSwNP was found to be different from that of Western CRSwNP. The main en-dotype of CRSwNP is type 2 inflammation, in which interleukin (IL)-4, IL-5, and IL-13 are key cytokines. In contrast, type 1 inflammation (interferon-γ) and type 3 inflammation (IL-17 or IL-22) play essential roles in Asian CRSwNP. Biological agents, which have recently been highlighted for the treatment of CRSwNP, are very effective in suppressing the type 2 inflammatory response and recovering smell loss. However, little information is available on the efficacy of these biologics in Asian patients with CRSwNP. Herein, we reviewed the endotypes of Asian CRSwNP and compared them to those of Western CRSwNP. We identified changes in the inflammatory patterns and summarized the therapeutic options for Asian CRSwNP.","PeriodicalId":42462,"journal":{"name":"Precision and Future Medicine","volume":" ","pages":""},"PeriodicalIF":0.5,"publicationDate":"2022-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49263503","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}

引用次数: 0

The next generation of sinus stents for chronic rhinosinusitis: A systematic review 治疗慢性鼻窦炎的新一代鼻窦支架:系统综述

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Precision and Future Medicine Pub Date : 2022-09-07 DOI: 10.23838/pfm.2022.00065

D. Lim, D. Cho

引用次数: 0

Systemic vasculopathy associated with an RNF213 p.Arg4810Lys variant in moyamoya disease: A review 烟雾病与RNF213 p.Arg4810Lys变异相关的全体性血管病变:综述

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Precision and Future Medicine Pub Date : 2022-08-12 DOI: 10.23838/pfm.2022.00009

Duk-Kyung Kim, S. Jang, Sung‐A Chang, T. Park

{"title":"Systemic vasculopathy associated with an RNF213 p.Arg4810Lys variant in moyamoya disease: A review","authors":"Duk-Kyung Kim, S. Jang, Sung‐A Chang, T. Park","doi":"10.23838/pfm.2022.00009","DOIUrl":"https://doi.org/10.23838/pfm.2022.00009","url":null,"abstract":"Moyamoya\u0007disease\u0007(MMD)\u0007is\u0007a\u0007steno-occlusive\u0007disease\u0007of\u0007the\u0007distal\u0007cerebral\u0007arteries.\u0007 Ring\u0007finger\u0007protein\u0007213\u0007(RNF213)\u0007p.Arg4810Lys\u0007is\u0007a\u0007susceptibility\u0007gene\u0007of\u0007MMD\u0007for\u0007which\u0007 related\u0007vasculopathies\u0007are\u0007not\u0007well\u0007characterized.\u0007Heterozygous\u0007patients\u0007were\u0007mostly\u0007 asymptomatic\u0007or\u0007exhibited\u0007isolated\u0007MMD.\u0007Homozygous\u0007patients\u0007showed\u0007a\u0007very\u0007unique\u0007 pattern\u0007of\u0007diffuse\u0007narrowing\u0007of\u0007the\u0007entire\u0007aorta\u0007along\u0007with\u0007stenosis\u0007of\u0007the\u0007splanchnic,\u0007 renal,\u0007coronary,\u0007iliofemoral,\u0007and/or\u0007peripheral\u0007pulmonary\u0007arteries,\u0007regardless\u0007of\u0007pres-ence\u0007or\u0007absence\u0007of\u0007MMD.\u0007RNF213\u0007p.Arg4810Lys\u0007is\u0007associated\u0007with\u0007high\u0007penetrance\u0007of\u0007 systemic\u0007vasculopathy\u0007in\u0007homozygous\u0007patients\u0007and\u0007low\u0007penetrance\u0007of\u0007intracranial\u0007ste-nosis,\u0007i.e.,\u0007MMD,\u0007in\u0007heterozygous\u0007patients,\u0007which\u0007suggests\u0007a\u0007gene-dosage\u0007effect.","PeriodicalId":42462,"journal":{"name":"Precision and Future Medicine","volume":" ","pages":""},"PeriodicalIF":0.5,"publicationDate":"2022-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47411996","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}

引用次数: 3

Bonghan (primo vascular) system, elucidated by Bong Han Kim: Kim’s findings, later verifications, new findings, and prospective: A review 奉汉(原始血管)系统，由奉汉金阐明:金的发现，后来的验证，新发现和展望:综述

IF 0.5

Precision and Future Medicine Pub Date : 2022-06-30 DOI: 10.23838/pfm.2022.00030

K. A. Kang

{"title":"Bonghan (primo vascular) system, elucidated by Bong Han Kim: Kim’s findings, later verifications, new findings, and prospective: A review","authors":"K. A. Kang","doi":"10.23838/pfm.2022.00030","DOIUrl":"https://doi.org/10.23838/pfm.2022.00030","url":null,"abstract":"The Bonghan system (BHS) was discovered in the 1950s by Dr. Bong Han Kim in North Korea. His first report, published in 1962, revealed the identity of ‘acupuncture meridian’ as a vascular system. Kim published five reports, containing completely new facts on BHS: its distribution throughout the entire body, even in blood and lymphatic vessels and self-renovating function via a new cell cycle, demonstrating its fundamental nature in life. In about 1966, Kim’s research abruptly ceased but in about 2000, it was revived by Dr. Kwang-Sup Soh in South Korea, who later gave it another name, primo vascular system (PVS). Soh and other PVS scientists also uncovered new BHS/PVS facts: e.g., its roles in stem cell productions and in cancer metastasis. The review provides a glimpse of BHS/PVS science, which is so worthy of furthering. It includes: BHS and acupuncture meridian; BHS subtypes; sanal (산알)-cell cycle for cell-renovation and blood cell productions; sanals and stem cells; and cancer associated-PVS. The bases of BHS/PVS sciences are now laid out in front of us and it is up to us to combine our efforts together to further this important science. The review invites scientists in all fields to active debates to move forward and implement BHS/PVS sciences in healthcare.","PeriodicalId":42462,"journal":{"name":"Precision and Future Medicine","volume":" ","pages":""},"PeriodicalIF":0.5,"publicationDate":"2022-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44948372","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}

引用次数: 0