Pheochromocytoma is one of recurrent tumors in patients with von Hippel-Lindau (VHL) disease. For patients with bilateral adrenal glands, unilateral adrenalectomy is the treatment of choice; however, for patients with a single adrenal gland, hemiadrenalectomy or tumorectomy can be performed instead of adrenalectomy to preserve adrenal function. Currently, adrenalectomy is recommended even if recurrent pheochromocytomas occur in the residual adrenal tissue. Consequently, adrenal insufficiency cannot be avoided in these patients. Percutaneous radiofrequency ablation (RFA) is used as an alternative treatment for preserving adrenal function; however, RFA is difficult to perform when major organs are present in the approaching pathway. The trans-hepatic approach is the only reported safe route to approach a right adrenal tumor to avoid pneumothorax. In this case report, we performed percutaneous RFA and hydrodissection through the left renal parenchyma to treat a recurrent pheochromocytoma in the small residual left adrenal tissue, which is surrounded by several critical organs. Our goal was to show our experience of image-guided trans-renal RFA and hydrodissection in a patient with VHL disease.
{"title":"Case report of trans-renal ablation procedures for a recurrent pheochromocytoma in von Hippel-Lindau disease","authors":"B. K. Park","doi":"10.23838/pfm.2023.00058","DOIUrl":"https://doi.org/10.23838/pfm.2023.00058","url":null,"abstract":"Pheochromocytoma is one of recurrent tumors in patients with von Hippel-Lindau (VHL) disease. For patients with bilateral adrenal glands, unilateral adrenalectomy is the treatment of choice; however, for patients with a single adrenal gland, hemiadrenalectomy or tumorectomy can be performed instead of adrenalectomy to preserve adrenal function. Currently, adrenalectomy is recommended even if recurrent pheochromocytomas occur in the residual adrenal tissue. Consequently, adrenal insufficiency cannot be avoided in these patients. Percutaneous radiofrequency ablation (RFA) is used as an alternative treatment for preserving adrenal function; however, RFA is difficult to perform when major organs are present in the approaching pathway. The trans-hepatic approach is the only reported safe route to approach a right adrenal tumor to avoid pneumothorax. In this case report, we performed percutaneous RFA and hydrodissection through the left renal parenchyma to treat a recurrent pheochromocytoma in the small residual left adrenal tissue, which is surrounded by several critical organs. Our goal was to show our experience of image-guided trans-renal RFA and hydrodissection in a patient with VHL disease.","PeriodicalId":42462,"journal":{"name":"Precision and Future Medicine","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41576254","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":"Utility of renal artery ultrasound for detecting stenosis or obstruction A narrative review","authors":"B. K. Park","doi":"10.23838/pfm.2023.00009","DOIUrl":"https://doi.org/10.23838/pfm.2023.00009","url":null,"abstract":"","PeriodicalId":42462,"journal":{"name":"Precision and Future Medicine","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2023-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41996575","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}
Dong Hee Kim, Jeong Pyo Son, Y. Cho, Eun Hee Kim, Gyeong Joon Moon, Oh Young Bang
Purpose: Although pathogenic mechanisms of moyamoya disease (MMD) remain unknown, recent studies suggest that it is a caveolae disease. This study evaluated the effect of udenafil, a phosphodiesterase-5 inhibitor, on angiogenesis in in vitro and in vivo MMD models.Methods: Angiogenesis and vessel maturation were assessed in in vitro models, caveolin- 1 (Cav-1) knockdown human umbilical vessel endothelial cells (HUVECs) and coronary artery smooth muscle cells (CASMCs), and in in vivo model of bilateral internal carotid artery occlusion (bICAo). Udenafil was administered (1,3,10, and 30 μM) in cell culture conditions, and functional studies (migration and tube formation assay) were performed and vessel maturation factors and cyclic guanosine monophosphate (cGMP) accumulation were measured.Results: Udenafil (3 and 10 mg/kg) was orally administered once daily for 4 weeks in bICAo rat model, and histological analysis for angiogenesis and vessel maturation was performed. Udenafil increased vessel formation in both Cav-1 knockdown HUVEC and bICAo models without increased migration/proliferation of HUVECs and CASMCs. Udenafil increased CD31+ vessel density and NG2/Col4+ mural cell density in bICAo models. Cav-1 knockdown inhibited accumulation of cGMP, and udenafil treatment restored cGMP levels in Cav-1 knockdown HUVEC models. Vessel maturation factors (angiopoietin- 1 and platelet-derived growth factor receptor-β) and angiogenic factors (endothelial nitric oxide synthase) were increased after treatment with udenafil in vitro.Conclusion: Our results indicate that udenafil reversed cellular levels of cGMP related to Cav-1 deficiency and induced angiogenesis and vessel maturation. Further studies are warranted to confirm the therapeutic effects of this strategy in MMD.
{"title":"Angiogenesis effect of udenafil in a caveolin-1 deficient moyamoya disease model: A pre-clinical animal study","authors":"Dong Hee Kim, Jeong Pyo Son, Y. Cho, Eun Hee Kim, Gyeong Joon Moon, Oh Young Bang","doi":"10.23838/pfm.2022.00135","DOIUrl":"https://doi.org/10.23838/pfm.2022.00135","url":null,"abstract":"Purpose: Although pathogenic mechanisms of moyamoya disease (MMD) remain unknown, recent studies suggest that it is a caveolae disease. This study evaluated the effect of udenafil, a phosphodiesterase-5 inhibitor, on angiogenesis in in vitro and in vivo MMD models.Methods: Angiogenesis and vessel maturation were assessed in in vitro models, caveolin- 1 (Cav-1) knockdown human umbilical vessel endothelial cells (HUVECs) and coronary artery smooth muscle cells (CASMCs), and in in vivo model of bilateral internal carotid artery occlusion (bICAo). Udenafil was administered (1,3,10, and 30 μM) in cell culture conditions, and functional studies (migration and tube formation assay) were performed and vessel maturation factors and cyclic guanosine monophosphate (cGMP) accumulation were measured.Results: Udenafil (3 and 10 mg/kg) was orally administered once daily for 4 weeks in bICAo rat model, and histological analysis for angiogenesis and vessel maturation was performed. Udenafil increased vessel formation in both Cav-1 knockdown HUVEC and bICAo models without increased migration/proliferation of HUVECs and CASMCs. Udenafil increased CD31+ vessel density and NG2/Col4+ mural cell density in bICAo models. Cav-1 knockdown inhibited accumulation of cGMP, and udenafil treatment restored cGMP levels in Cav-1 knockdown HUVEC models. Vessel maturation factors (angiopoietin- 1 and platelet-derived growth factor receptor-β) and angiogenic factors (endothelial nitric oxide synthase) were increased after treatment with udenafil in vitro.Conclusion: Our results indicate that udenafil reversed cellular levels of cGMP related to Cav-1 deficiency and induced angiogenesis and vessel maturation. Further studies are warranted to confirm the therapeutic effects of this strategy in MMD.","PeriodicalId":42462,"journal":{"name":"Precision and Future Medicine","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2023-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44587108","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}
Nur Izzati Umar Zaman, T. L. Kek, Rohana Ahmad, Mohd Nur Fakhruzzaman Noorizhab, M. Rofiee, R. James, N. M. Nor, Mawarni Mohamed, Teoh Sian Hoon, P. Singh, R. Janor, S. H. A. Bakar, M. Z. Salleh
Purpose: The highly competitive nature of tertiary education and the pressure to perform academically have increased psychological morbidity like emotional distress. Untargeted metabolomics was used to analyze serum samples of university students for biomarkers and perturbated metabolism due to stress, anxiety, and depression (SAD).Methods: Depression, Anxiety, Stress Scale 21 (DASS-21) was used to assess the severity of SAD in university students. The metabolite fingerprint of each subject was obtained using liquid chromatography-mass spectrometry quadrupole time-of-flight (LC/MS QTOF). The signature metabolites for each trait were determined by projections to latent structures discriminant analysis (PLS-DA) with variable importance for the projection (VIP) score > 1.0 (P<0.05) and subjected to analysis using the area under the receiver operating characteristic curve (AUROC). Potential biomarkers with an area under the curve (AUC) value exceeding 0.65 were identified.Results: Various groups of glycerophospholipids were upregulated in the studied traits. On the other hand, metabolites such as glycocholic acid was upregulated in depression, while hypoxanthine was upregulated in anxiety, and PE-Cer(d14:1(4E)/22:1(13Z)) was upregulated in stress.Conclusion: To our knowledge, this is the first study to assess the relationship of the differentially expressed metabolites in university students of different categories of SAD using the DASS-21 screening tool in Malaysia as we move forward with precision health.
{"title":"Signatory metabolomics biomarkers of stress, anxiety, and depression: a proof of concept for precision health among university students: A cross-sectional study","authors":"Nur Izzati Umar Zaman, T. L. Kek, Rohana Ahmad, Mohd Nur Fakhruzzaman Noorizhab, M. Rofiee, R. James, N. M. Nor, Mawarni Mohamed, Teoh Sian Hoon, P. Singh, R. Janor, S. H. A. Bakar, M. Z. Salleh","doi":"10.23838/pfm.2022.00128","DOIUrl":"https://doi.org/10.23838/pfm.2022.00128","url":null,"abstract":"Purpose: The highly competitive nature of tertiary education and the pressure to perform academically have increased psychological morbidity like emotional distress. Untargeted metabolomics was used to analyze serum samples of university students for biomarkers and perturbated metabolism due to stress, anxiety, and depression (SAD).Methods: Depression, Anxiety, Stress Scale 21 (DASS-21) was used to assess the severity of SAD in university students. The metabolite fingerprint of each subject was obtained using liquid chromatography-mass spectrometry quadrupole time-of-flight (LC/MS QTOF). The signature metabolites for each trait were determined by projections to latent structures discriminant analysis (PLS-DA) with variable importance for the projection (VIP) score > 1.0 (P<0.05) and subjected to analysis using the area under the receiver operating characteristic curve (AUROC). Potential biomarkers with an area under the curve (AUC) value exceeding 0.65 were identified.Results: Various groups of glycerophospholipids were upregulated in the studied traits. On the other hand, metabolites such as glycocholic acid was upregulated in depression, while hypoxanthine was upregulated in anxiety, and PE-Cer(d14:1(4E)/22:1(13Z)) was upregulated in stress.Conclusion: To our knowledge, this is the first study to assess the relationship of the differentially expressed metabolites in university students of different categories of SAD using the DASS-21 screening tool in Malaysia as we move forward with precision health.","PeriodicalId":42462,"journal":{"name":"Precision and Future Medicine","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2023-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43542235","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}
Current ultrasound (US) scanners can directly detect renal artery stenosis (RAS) in which the degree is the same irrespective of heart beat. Frequently, however, blood pressure or renal function is not improved because the stage of RAS is too late. Therefore, RAS should be early detected and thus the radiologists are familiar with US features of early, intermediate, and late RAS. Atherosclerosis is the most common etiology to RAS and begins inflammation from the intima of renal artery. Accordingly, we can hypothesize that there are multi-stages going to the final RAS. At early stage, RAS can be detected on diastolic phase alone. However, at intermediate stage, it begins to be seen on systolic phase and is more severe on diagnostic phase than that at early stage. Finally, at late stage, RAS is seen at the same degree regardless of heart beats because the stenosis is fixed due to fibrosis. The purpose of this review is to introduce a hypothesis on the stages of RAS, to show the renal artery US features of each stage, and to compare US and angiography in terms of RAS detection.
{"title":"Stages of renal artery stenosis: a hypothesis based on ultrasound findings: A narrative review","authors":"B. K. Park","doi":"10.23838/pfm.2022.00149","DOIUrl":"https://doi.org/10.23838/pfm.2022.00149","url":null,"abstract":"Current ultrasound (US) scanners can directly detect renal artery stenosis (RAS) in which the degree is the same irrespective of heart beat. Frequently, however, blood pressure or renal function is not improved because the stage of RAS is too late. Therefore, RAS should be early detected and thus the radiologists are familiar with US features of early, intermediate, and late RAS. Atherosclerosis is the most common etiology to RAS and begins inflammation from the intima of renal artery. Accordingly, we can hypothesize that there are multi-stages going to the final RAS. At early stage, RAS can be detected on diastolic phase alone. However, at intermediate stage, it begins to be seen on systolic phase and is more severe on diagnostic phase than that at early stage. Finally, at late stage, RAS is seen at the same degree regardless of heart beats because the stenosis is fixed due to fibrosis. The purpose of this review is to introduce a hypothesis on the stages of RAS, to show the renal artery US features of each stage, and to compare US and angiography in terms of RAS detection.","PeriodicalId":42462,"journal":{"name":"Precision and Future Medicine","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2023-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47440569","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}
Aggregation of misfolded tau in the brain is a major pathological feature common in various neurodegenerative disorders known as tauopathies, including Alzheimer’s disease, progressive supranuclear palsy, corticobasal syndrome, and dementia with Lewy bodies. Tauopathies are collection of diseases with varied overlapping symptoms and complicated manifestations. Consequently, it is crucial to be able to assess tau deposits in vivo. Over the past decade, tau-specific radioligands for positron emission tomography (PET) have been developed and tested, including first-generation compounds (e.g., 18F-THK5317, 18F-THK5351, 18F-AV1451, and 11C-PBB3) and second-generation compounds (18F-MK-6240, 18F-RO-948, and 18F-PI-2620). With the recent advances of tau PET tracers, assessing the pattern of tau deposition in vivo is possible. These methods will allow accurate diagnosis of tauopathies and monitoring of disease progression. In this mini review, we summarize current findings from studies using tau PET tracers regarding neuropathological characteristics, clinical implications, and potential applications of tau PET. We also discuss methodological considerations for appropriate use of these technologies and discuss what has been learned from these findings.
{"title":"Tau positron emission tomography in tauopathies: A narrative review","authors":"Hyunjong Lee, Yuna Gu, S. Seo, S. Moon","doi":"10.23838/pfm.2023.00016","DOIUrl":"https://doi.org/10.23838/pfm.2023.00016","url":null,"abstract":"Aggregation of misfolded tau in the brain is a major pathological feature common in various neurodegenerative disorders known as tauopathies, including Alzheimer’s disease, progressive supranuclear palsy, corticobasal syndrome, and dementia with Lewy bodies. Tauopathies are collection of diseases with varied overlapping symptoms and complicated manifestations. Consequently, it is crucial to be able to assess tau deposits in vivo. Over the past decade, tau-specific radioligands for positron emission tomography (PET) have been developed and tested, including first-generation compounds (e.g., 18F-THK5317, 18F-THK5351, 18F-AV1451, and 11C-PBB3) and second-generation compounds (18F-MK-6240, 18F-RO-948, and 18F-PI-2620). With the recent advances of tau PET tracers, assessing the pattern of tau deposition in vivo is possible. These methods will allow accurate diagnosis of tauopathies and monitoring of disease progression. In this mini review, we summarize current findings from studies using tau PET tracers regarding neuropathological characteristics, clinical implications, and potential applications of tau PET. We also discuss methodological considerations for appropriate use of these technologies and discuss what has been learned from these findings.","PeriodicalId":42462,"journal":{"name":"Precision and Future Medicine","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2023-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45057077","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":"Message from the Precision and Future Medicine editors to our ad hoc reviewers","authors":"H. Jeon","doi":"10.23838/pfm.2023.00030","DOIUrl":"https://doi.org/10.23838/pfm.2023.00030","url":null,"abstract":"","PeriodicalId":42462,"journal":{"name":"Precision and Future Medicine","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2023-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41785304","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}
B. Ku, Sungwon Park, Sehhoon Park, H. Jung, Jong-Mu Sun, Se-Hoon Lee, J. Ahn, Yoon-La Choi, M. Ahn
Purpose: Mesenchymal-epithelial transition tyrosine kinase receptor (MET) amplification is one of the common acquired resistance mechanisms to epidermal growth factor receptor (EGFR) tyrosine kinase inhibitor (TKI). To evaluate the usefulness of screening methods for MET status, we studied the impact of MET amplification or protein overexpression in EGFR-mutant non-small cell lung cancer patients who were treated with EGFR TKI.Methods: A total of 214 patients treated with EGFR TKI as first-line therapy with available tissue biopsy was analyzed. Paired biopsies were obtained from 111 patients at baseline and at onset of resistance. MET status was determined by immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH).Results: Among 111 patients with paired samples, incidence of MET alteration was increased according to both MET overexpression by IHC (14.4% to 22.5%) and MET amplification by FISH (1.8% to 8.1%) with moderated to strong IHC intensity samples after EGFR TKI treatment. In patients treated with 1st-generation EGFR TKI, MET amplification by FISH was significantly related to shorter progression-free survival (P=0.04) and overall survival (P=0.01). In contrast, there was no difference in clinical outcomes according to MET intensity of IHC. Patients harboring MET amplification by FISH were associated with poor clinical outcomes compared to those with T790M mutation at progression.Conclusion: These results suggest that FISH is more informative than IHC for identification of patients with MET amplification as an EGFR TKI resistance mechanism. Given the poor outcome in patients who developed MET amplification, combinational trials with more active MET inhibitor are needed to overcome resistance.
{"title":"Evaluation of MET alteration in EGFR-mutant non-small cell lung cancer patients treated with EGFR tyrosine kinase inhibitor from paired biopsy: A retrospective cohort study","authors":"B. Ku, Sungwon Park, Sehhoon Park, H. Jung, Jong-Mu Sun, Se-Hoon Lee, J. Ahn, Yoon-La Choi, M. Ahn","doi":"10.23838/pfm.2022.00058","DOIUrl":"https://doi.org/10.23838/pfm.2022.00058","url":null,"abstract":"Purpose: Mesenchymal-epithelial transition tyrosine kinase receptor (MET) amplification is one of the common acquired resistance mechanisms to epidermal growth factor receptor (EGFR) tyrosine kinase inhibitor (TKI). To evaluate the usefulness of screening methods for MET status, we studied the impact of MET amplification or protein overexpression in EGFR-mutant non-small cell lung cancer patients who were treated with EGFR TKI.Methods: A total of 214 patients treated with EGFR TKI as first-line therapy with available tissue biopsy was analyzed. Paired biopsies were obtained from 111 patients at baseline and at onset of resistance. MET status was determined by immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH).Results: Among 111 patients with paired samples, incidence of MET alteration was increased according to both MET overexpression by IHC (14.4% to 22.5%) and MET amplification by FISH (1.8% to 8.1%) with moderated to strong IHC intensity samples after EGFR TKI treatment. In patients treated with 1st-generation EGFR TKI, MET amplification by FISH was significantly related to shorter progression-free survival (P=0.04) and overall survival (P=0.01). In contrast, there was no difference in clinical outcomes according to MET intensity of IHC. Patients harboring MET amplification by FISH were associated with poor clinical outcomes compared to those with T790M mutation at progression.Conclusion: These results suggest that FISH is more informative than IHC for identification of patients with MET amplification as an EGFR TKI resistance mechanism. Given the poor outcome in patients who developed MET amplification, combinational trials with more active MET inhibitor are needed to overcome resistance.","PeriodicalId":42462,"journal":{"name":"Precision and Future Medicine","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2022-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46428670","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}
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.
{"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":null,"pages":null},"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}
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.
{"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":null,"pages":null},"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}
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