American Journal of Medical Genetics Part C: Seminars in Medical Genetics最新文献

Growth and Growth-Promoting Treatments in Turner Syndrome.

IF 2.8 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2025-02-14 DOI: 10.1002/ajmg.c.32133

Roopa Kanakatti Shankar, Charmian A Quigley, Tsuyoshi Isojima, Nelly Mauras, Steven D Chernausek, Malgorzata Wasniewska, Theo C J Sas

{"title":"Growth and Growth-Promoting Treatments in Turner Syndrome.","authors":"Roopa Kanakatti Shankar, Charmian A Quigley, Tsuyoshi Isojima, Nelly Mauras, Steven D Chernausek, Malgorzata Wasniewska, Theo C J Sas","doi":"10.1002/ajmg.c.32133","DOIUrl":"https://doi.org/10.1002/ajmg.c.32133","url":null,"abstract":"Short stature is a common presenting feature and an important concern for families of children with Turner syndrome. In this review, we summarize the data that shaped the updated international consensus guidelines for Turner syndrome published in 2024. The natural history of growth in Turner syndrome, the safety and efficacy of recombinant human growth hormone therapy, and the alternate growth promoting agents under consideration are presented. Timely, adequate growth hormone therapy can counter growth failure in childhood, promote catch-up growth and help many individuals with Turner syndrome attain a near-normal adult height. However, individual responses to growth hormone treatment are highly variable and are influenced by factors such as parental heights, age, baseline height, timing of estrogen initiation and pubertal status. Shared decision making on initiation of treatment, a candid conversation regarding the modest gradual height gain resulting from growth hormone therapy, and individualization of therapeutic goals can facilitate realistic expectations of growth promoting therapy in Turner syndrome.","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":" ","pages":"e32133"},"PeriodicalIF":2.8,"publicationDate":"2025-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143412865","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Turner Syndrome and Psychosocial Interventions: Recommendations for Collaborative Communication Between Medical and School Teams.

IF 2.8 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2025-02-13 DOI: 10.1002/ajmg.c.32134

Mackenzie Z Norman, Christa Hutaff-Lee, Rebecca C Knickmeyer, Doris Fadoju, Jeanne Wolstencroft, David S Hong, David E Sandberg

{"title":"Turner Syndrome and Psychosocial Interventions: Recommendations for Collaborative Communication Between Medical and School Teams.","authors":"Mackenzie Z Norman, Christa Hutaff-Lee, Rebecca C Knickmeyer, Doris Fadoju, Jeanne Wolstencroft, David S Hong, David E Sandberg","doi":"10.1002/ajmg.c.32134","DOIUrl":"https://doi.org/10.1002/ajmg.c.32134","url":null,"abstract":"Individuals with Turner Syndrome (TS) can experience not only physical and medical differences but are also at risk for neurocognitive and associated psychosocial challenges. Specifically, research shows increased likelihood of difficulties with visual-spatial reasoning, executive functioning, attention, and mathematics skills. One emerging area of research focuses on deficits in social skills and increased prevalence of anxiety within this population. This review introduces relevant genetic influences of TS and examines existing research on social skills and anxiety in individuals with TS. The importance of collaboration between the medical team and school personnel for patients with TS is emphasized, and specific clinical recommendations, such as the use of the TS School Support Plan, are provided to facilitate this collaboration. This paper services as a brief introduction to orient the reader to considerations of strengthening collaboration between medical and school systems; however, future research is needed to investigate the effectiveness and acceptability of the School Support Plan to enhance liaison between the patient's medical and school teams.","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":" ","pages":"e32134"},"PeriodicalIF":2.8,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143405401","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Prenatal Delivery of Enzyme Replacement Therapy to Fetuses Affected by Early-Onset Lysosomal Storage Diseases.

IF 2.8 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2025-01-31 DOI: 10.1002/ajmg.c.32132

Beltran Borges, Emma Canepa, Irene J Chang, Akos Herzeg, Billie Lianoglou, Priya S Kishnani, Paul Harmatz, Tippi C MacKenzie, Jennifer L Cohen

{"title":"Prenatal Delivery of Enzyme Replacement Therapy to Fetuses Affected by Early-Onset Lysosomal Storage Diseases.","authors":"Beltran Borges, Emma Canepa, Irene J Chang, Akos Herzeg, Billie Lianoglou, Priya S Kishnani, Paul Harmatz, Tippi C MacKenzie, Jennifer L Cohen","doi":"10.1002/ajmg.c.32132","DOIUrl":"https://doi.org/10.1002/ajmg.c.32132","url":null,"abstract":"The expansion of prenatal genetic screening and diagnosis warrants the evaluation of approved postnatal therapies that may be safely and feasibly translated to prenatal administration to a fetus affected by monogenic disease. For lysosomal storage diseases (LSDs), enzyme replacement therapy (ERT) often represents the main therapeutic approach. In utero enzyme replacement therapy (IUERT) has several potential benefits compared to postnatal therapy, such as: (1) delivering enzyme before the onset of irreversible organ damage; (2) developing tolerance toward the recombinant enzyme; and (3) targeting the central nervous system through a more permeable blood-brain barrier. In this review, we examine the general and disease-specific rationale for IUERT, and provide an overview of the main elements of our current clinical trial for the prenatal treatment of early-onset lysosomal storage diseases. Trial Registration: IUERT clinical trial: NCT04532047; Alpha thalassemia clinical trial: NCT02986698.","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":" ","pages":"e32132"},"PeriodicalIF":2.8,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143073406","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Adverse Cardiovascular Risk Profile and Increased Diurnal Salivary Cortisol in Girls With Turner Syndrome: An Exploratory Study.

IF 2.8 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2025-01-28 DOI: 10.1002/ajmg.c.32130

Lily Jones, Julie Park, Silothabo Dliso, Daniel B Hawcutt, Alena Shantsila, Gregory Y H Lip, Joanne Blair

{"title":"Adverse Cardiovascular Risk Profile and Increased Diurnal Salivary Cortisol in Girls With Turner Syndrome: An Exploratory Study.","authors":"Lily Jones, Julie Park, Silothabo Dliso, Daniel B Hawcutt, Alena Shantsila, Gregory Y H Lip, Joanne Blair","doi":"10.1002/ajmg.c.32130","DOIUrl":"https://doi.org/10.1002/ajmg.c.32130","url":null,"abstract":"Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular function, and ambulatory blood pressure (BP). Biochemical indicators of cardiovascular risk were also measured. Data were compared to matched healthy controls (HCs) or interpreted according to reference populations. Ten patients, aged 14.1 ± 2.3 years participated. Mean SC was higher in girls with TS, although the early morning measurement was lower resulting in a flatter diurnal profile. Body mass index was > 1.0 SDS in five and muscle-to-fat ratio was low (< 0.8) in six participants. Four had proatherogenic lipid profiles and six had raised clotting and/or inflammatory markers. Mean glucose concentration was higher in TS than in HCs (109.8 vs. 102.6 mg/dL, p = 0.003). Loss of nocturnal dipping in BP was universal, and hypertension was present in three patients. TS participants had an adverse cardiovascular profile. The same cohort also exhibited increased cortisol exposure and the clinical significance of these dual findings warrants further investigation.","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":" ","pages":"e32130"},"PeriodicalIF":2.8,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143057725","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Transition to Adult Care in Turner Syndrome: Research Gaps and Strategies for Achieving Success. 特纳综合征的成人护理过渡：研究差距和取得成功的策略。

IF 2.8 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2025-01-20 DOI: 10.1002/ajmg.c.32131

Leena Nahata, Franciska Verlinde, Kirstine Stochholm, Iris Gutmark-Little

{"title":"Transition to Adult Care in Turner Syndrome: Research Gaps and Strategies for Achieving Success.","authors":"Leena Nahata, Franciska Verlinde, Kirstine Stochholm, Iris Gutmark-Little","doi":"10.1002/ajmg.c.32131","DOIUrl":"https://doi.org/10.1002/ajmg.c.32131","url":null,"abstract":"Health care transition is a process by which children with chronic medical conditions gradually and purposefully move from pediatric to adult-centered health care systems. While transition guidelines have been published by multiple national and international organizations, transition processes have not been optimized for many populations, including youth with Turner syndrome (TS). Numerous barriers exist, at both the system and individual/family level. Mitigating transition-related barriers requires a multi-faceted approach, including: conducting research to assess TS specific transition interventions and outcomes; developing educational/training initiatives and quality improvement efforts; engaging in advocacy/policy change; and implementing evidence-based strategies to optimize transition. The goals of this manuscript are to outline key research gaps that need to be addressed regarding health care transition in TS and to suggest strategies to optimize transition outcomes. Given the importance of a multi-disciplinary and patient-centered approach, we specifically outline the roles of pediatric health care teams (including navigators), adult health care teams, patients, caregivers, and institutional resources.","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":" ","pages":"e32131"},"PeriodicalIF":2.8,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142998394","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Spreading the Word: Communicating Evidence-Based Guidelines About Turner Syndrome to Patients, Parents, Providers, and Payors. 传播信息：向患者、家长、提供者和付款人传达关于特纳综合征的循证指南。

IF 2.8 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2025-01-13 DOI: 10.1002/ajmg.c.32129

Angela E Lin, Paul Kruszka

引用次数: 0

Revisiting the Neuropsychological and Clinical Profile of Mosaic Turner Syndrome With a Ring X Chromosome. 重访带有环状X染色体的马赛克特纳综合征的神经心理学和临床特征。

IF 2.8 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2025-01-11 DOI: 10.1002/ajmg.c.32128

Marisa E Cicione, Ashley W Wong, Eloise Aragon, Cole Hague, Allison L Cirino, Eleanor R Scimone, Perman Gochyyev, Angela E Lin

{"title":"Revisiting the Neuropsychological and Clinical Profile of Mosaic Turner Syndrome With a Ring X Chromosome.","authors":"Marisa E Cicione, Ashley W Wong, Eloise Aragon, Cole Hague, Allison L Cirino, Eleanor R Scimone, Perman Gochyyev, Angela E Lin","doi":"10.1002/ajmg.c.32128","DOIUrl":"https://doi.org/10.1002/ajmg.c.32128","url":null,"abstract":"Determining karyotype-phenotype correlations for individuals with Turner syndrome (\"TS individuals\") is a longstanding research endeavor. The limited literature on Turner syndrome (TS) with a ring X chromosome hinders counseling about the neuropsychological and clinical features. To further characterize these phenotypes, we compared 27 TS individuals with 46,X,r(X)/45,X (\"ring X\") to 50 non-mosaic 45,X, and 27 mosaic 45,X/46,XX (\"mosaic 45,X\") individuals. This retrospective cohort study of 104 individuals reported on cardiac and renal malformations, endocrine and neuropsychological conditions, and applied contemporary terminology in a nuanced framework to assess intellectual developmental disorder (IDD). We noted an increased IDD risk for TS individuals with ring X compared to mosaic 45,X and non-mosaic 45,X, though at a lower frequency (26%, 6 of 23) than previously reported. Across karyotypes, 49% (16 of 33) of TS individuals with neuropsychological evaluations had a diagnosis of other specified neurodevelopmental disorder due to TS. In TS individuals with ring X, there was an increased risk for hypothyroidism, whereas bicuspid aortic valve and horseshoe kidney were less frequent compared to other karyotypes. These results add to the limited literature on TS individuals with ring X and can inform the counseling of TS individuals, caregivers, and expectant parents.","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":" ","pages":"e32128"},"PeriodicalIF":2.8,"publicationDate":"2025-01-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142963300","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Genomics Review of Selective RET Inhibitors Sensitivity in Thyroid Cancer Clinical Trials. 甲状腺癌临床试验中选择性RET抑制剂敏感性的基因组学综述。

IF 2.8 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2025-01-04 DOI: 10.1002/ajmg.c.32127

Sara Gil-Bernabé, Lucía García-DeLaFuente, Alejandro García-Álvarez, Ginesa García-Rostán, Jaume Capdevila, Jorge Hernando

{"title":"Genomics Review of Selective RET Inhibitors Sensitivity in Thyroid Cancer Clinical Trials.","authors":"Sara Gil-Bernabé, Lucía García-DeLaFuente, Alejandro García-Álvarez, Ginesa García-Rostán, Jaume Capdevila, Jorge Hernando","doi":"10.1002/ajmg.c.32127","DOIUrl":"https://doi.org/10.1002/ajmg.c.32127","url":null,"abstract":"RET gene is a driver of thyroid cancer (TC) tumorigenesis. The incidence of TC has increased worldwide in the last few decades, both in medullary and follicular-derived subtypes. Several drugs, including multikinase and selective inhibitors, have been explored. Selpercatinib and pralsetinib are selective RET inhibitors that have shown clear clinical benefits for patients in the LIBRETTO and ARROW trials, respectively. Currently, their development and application in clinical practice are ongoing. However, its efficacy in different RET pathogenic variants has not yet been well established. Although selpercatinib and pralsetinib achieved a high ORR, no data are available regarding the differences in tumor responses of both TC groups according to RET pathogenic variants. Clinical trials and literature have analyzed the efficacy of selective RET inhibitors with a special interest in the most common variants. A review of LIBRETTO and ARROW trials was made regarding the change in tumor size depending on the pathogenic variants. M918T pathogenic variant resulted in a higher complete response rate. Patients who underwent fusion had the highest ORR (objective response rate). MKi-treated patients did not exhibit significant differences from untreated patients. Different RET pathogenic variants are not biomarkers of RETi response in TC. Selpercatinib showed a tendency to achieve a complete response. All patients with RET pathogenic variants should receive treatment with selpercatinib or pralsetinib at any moment of the therapeutic schedule owing to off-target inhibition and toxicity. Therefore, new targets for drug sensitivity and resistance should be explored.","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":" ","pages":"e32127"},"PeriodicalIF":2.8,"publicationDate":"2025-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142926238","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Cover Image, Volume 196, Number 4, December 2024 封面图片，第 196 卷第 4 号，2024 年 12 月

IF 2.8 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2024-12-13 DOI: 10.1002/ajmg.c.32126

引用次数: 0

Table of Contents, Volume 196, Number 4, December 2024 目录，第196卷，第4号，2024年12月

IF 2.8 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2024-12-13 DOI: 10.1002/ajmg.c.32050

引用次数: 0