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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics

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https://read.qxmd.com/read/31099966/development-of-an-online-registry-for-adults-with-arthrogryposis-multiplex-congenita-a-protocol-paper
#1
Bonita Sawatzky, Noemi Dahan-Oliel-Oliel, Ann-Marie Davison, Judith Hall, Harold Van Bosse, W Ben Mortenson
Arthrogryposis multiplex congenita (AMC) is considered a rare disorder resulting in multiple congenital contractures in two or more areas. Considerable literature is available on managing the contractures during an affected child's development but little information is available to those managing these ongoing issues in adulthood. Due to the heterogeneity etiological factors and presentation of AMC, and the small sample sizes of previous studies, it has been difficult to generalize results to the adult population...
May 17, 2019: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://read.qxmd.com/read/31081998/mutational-spectrum-of-dystrophinopathies-in-singapore-insights-for-genetic-diagnosis-and-precision-therapy
#2
Swati Tomar, Vikaesh Moorthy, Raman Sethi, Josiah Chai, Poh Sim Low, Stacey Tay Kiat Hong, Poh San Lai
Duchenne and Becker muscular dystrophies (DMD/BMD) are X-linked recessive disorders caused by mutations in the DMD gene. Emerging therapies targeting patients with specific mutations are now becoming a reality for many of these patients. Precise molecular diagnosis is essential to facilitate the identification of possible new treatments for patients in the local context. In this study, we screened 145 dystrophinopathic patients in Singapore and assessed their molecular status for eligibility to current emerging genetic therapies...
May 13, 2019: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://read.qxmd.com/read/31050142/asia-pacific-society-of-human-genetics-apshg-from-conception-to-2019-13-years-of-collaboration-to-tackle-congenital-malformation-and-genetic-disorders-in-asia
#3
Pornswan Wasant, Carmencita Padilla, Stephen Lam, Meow-Keong Thong, Poh-San Lai
Putting together the reports in this issue that come from a representation of the different countries in Asia presents an opportunity to share the unique story of the Asia Pacific Society of Human Genetics (APSHG), which has provided the authors of many of these articles. This paper, authored by the Past Presidents of the Society, shares glimpses of how medical genetics activities were first organized in the Asia Pacific region and provides interesting corollaries on how under-developed and developing countries in this part of the world had developed a unique network for exchange and sharing of expertise and resources...
May 3, 2019: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://read.qxmd.com/read/31046193/the-different-facets-of-culture-in-genetic-counseling-a-situated-analysis-of-genetic-counseling-in-hong-kong
#4
Olga Zayts, Hannah Shipman, Jasmine L-F Fung, Anthony P-Y Liu, Sit-Yee Kwok, Anne C-H Tsai, Tak-Cheung Yung, Brian H-Y Chung
In this article, we problematize the concept of "culture" in genetic counseling. With globalization and increased mobility of both genetic professionals and clients, there is an increased acknowledgement of the impact of "culture" on a counseling process. There is, however, little agreement on what "culture" is. The essentialist understanding that has long been dominant in the medical literature views culture as a set of shared beliefs, attitudes and practices among a group of people...
May 2, 2019: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://read.qxmd.com/read/31037834/development-of-clinical-genetics-in-asia
#5
Brian Chung, Brooke Willis, Poh-San Lai
This Special Issue on Clinical Genetics in Asia highlights a collection of articles showing the growth, development, and current status of clinical genetics in Asia. In this Introduction, the Guest Editors share on the themes of this issue to provide useful insights into the rapid growth of genomics and clinical genetics in this region. The contents of this Issue cover a range of topics from the history and development of clinical genetics in Asia to studies on disorders with clinical significance or phenotype differences in the Asian populations to the status of precision medicine...
April 29, 2019: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://read.qxmd.com/read/31037827/training-in-clinical-genetics-and-genetic-counseling-in-asia
#6
Eva Maria Cutiongco-de la Paz, Brian Hon-Yin Chung, Sultana M H Faradz, Meow-Keong Thong, Carmencita David-Padilla, Poh San Lai, Shuan-Pei Lin, Yin-Hsiu Chen, Thanyachai Sura, Mercy Laurino
The status of training in clinical genetics and genetic counseling in Asia is at diverse stages of development and maturity. Most of the training programs are in academic training centers where exposure to patients in the clinics or in the hospital is a major component. This setting provides trainees with knowledge and skills to be competent geneticists and genetic counselors in a variety of patient care interactions. Majority of the training programs combine clinical and research training which provide trainees a broad and integrated approach in the diagnosis and management of patients while providing opportunities for research discoveries that can be translated to better patient care...
April 29, 2019: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://read.qxmd.com/read/30903683/experience-of-chromosomal-microarray-applied-in-prenatal-and-postnatal-settings-in-hong-kong
#7
Shirley S W Cheng, Kelvin Y K Chan, Kelphen K P Leung, Patrick K C Au, Wai-Keung Tam, Samuel K M Li, Ho-Ming Luk, Anita S Y Kan, Brian H Y Chung, Ivan F M Lo, Mary H Y Tang
Chromosomal microarray (CMA) is recommended as a first tier investigation for patients with developmental delay (DD), intellectual disability (ID), autistic spectrum disorder (ASD), and multiple congenital anomalies (MCA). It is widely used in the prenatal and postnatal settings for detection of chromosomal aberrations. This is a retrospective review of all array comparative genomic hybridization (aCGH/ array CGH) findings ascertained in two major prenatal and postnatal genetic diagnostic centers in Hong Kong from June 2012 to December 2017...
March 23, 2019: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://read.qxmd.com/read/30897304/genetic-studies-on-systemic-lupus-erythematosus-in-east-asia-point-to-population-differences-in-disease-susceptibility
#8
Yong-Fei Wang, Yu Lung Lau, Wanling Yang
Systemic lupus erythematosus (SLE) is a prototype autoimmune disease with extreme clinical heterogeneity and significant differences between populations. East Asian populations are known to have higher prevalence and more severe clinical manifestations for SLE than Europeans. The difference could be the result of genetic and environmental factors, and the interactions between them. Thus, identifying genetic associations from diverse populations provides an opportunity to better understand the genetic architecture of this heterogeneous disease...
March 21, 2019: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://read.qxmd.com/read/30896080/genetic-landscape-of-rasopathies-in-chinese-three-decades-experience-in-hong-kong
#9
Kris P T Yu, Ho-Ming Luk, Gordon K C Leung, Christopher C Y Mak, Shirley S W Cheng, Edgar W L Hau, David K H Chan, Stephen T S Lam, Tony M F Tong, Brian H Y Chung, Ivan F M Lo
RASopathies are a group of genetic disorders due to dysregulation of the RAS-MAPK signaling pathway, which is important in regulating cell growth, proliferation, and differentiation. These include Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NSML), cardiofaciocutaneous (CFC) syndrome, and Costello syndrome (CS), clinical manifestations include growth retardation, developmental delay, cardiac defects, and specific dysmorphic features. There were abundant publications describing the genotype and phenotype from the Western populations...
March 21, 2019: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://read.qxmd.com/read/30893510/three-additional-de-novo-ctcf-mutations-in-chinese-patients-help-to-define-an-emerging-neurodevelopmental-disorder
#10
Fei Chen, Haiming Yuan, Wenyong Wu, Shaoke Chen, Qi Yang, Jin Wang, Qiang Zhang, Baohen Gui, Xin Fan, Ruimin Chen, Yiping Shen
CCCTC-binding factor (CTCF) is an important regulator for global genomic organization and gene expression. CTCF gene had been implicated in a novel disorder characterized by intellectual disability, feeding difficulty, developmental delay and microcephaly. So far, four patients have been reported with de novo CTCF mutations. We reported three additional Chinese patients with de novo variants in CTCF. The new evidence helped to establish the clinical validity between CTCF and the emerging disorder. We described the consistent phenotypes shared by all patients and revealed additional clinical features such as delayed or abnormal teeth development and a unique pattern of the eyebrow that may help to define a potential recognizable neurodevelopmental disorder...
March 20, 2019: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://read.qxmd.com/read/30888117/precision-medicine-in-thailand
#11
Vorasuk Shotelersuk, Sissades Tongsima, Manop Pithukpakorn, Jakris Eu-Ahsunthornwattana, Surakameth Mahasirimongkol
Extraordinary advances in high throughput next generation sequencing (NGS) technology and bioinformatics are the main thrust that transforms the current state of healthcare into the era of precision medicine where clinical practice takes individual variability into account. Here, we summarize the current status of the infrastructure we have and the adoption of precision medicine in Thailand in four spheres: rare diseases, oncology, pharmacogenomics, and noncommunicable diseases. Moreover, we provide our perspectives to the future of precision medicine in Thailand, especially the manpower and ethical, legal, and social issues...
March 19, 2019: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://read.qxmd.com/read/30860676/the-rise-of-the-genetic-counseling-profession-in-china
#12
Liya Sun, Bo Liang, Liping Zhu, Yiping Shen, Lin He
The rapid development of genetic and genomic technologies has greatly boosted medical genetic researches and clinical services worldwide. Since last century, genetic counseling in the United States has helped individuals and families understand, accept, and cope with their genetic issues. This fledging profession, which is in essence a branch of social work, emerged in China relatively late but has rapidly grown over the last few years. We believe that genetic counseling will continue to play a pivotal role in building communication channels between medical doctors and their patients, the government and the general public, and social organizations and their customers in China...
March 12, 2019: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://read.qxmd.com/read/30811826/epigenetics-and-genomics-in-turner-syndrome
#13
Mette Viuff, Anne Skakkebaek, Morten M Nielsen, Simon Chang, Claus H Gravholt
The pathogenesis of Turner syndrome (TS) and the genotype-phenotype relationship has been thoroughly investigated during the last decade. It has become evident that the phenotype seen in TS does not only depend on simple gene dosage as a result of X chromosome monosomy. The origin of TS specific comorbidities such as infertility, cardiac malformations, bone dysgenesis, and autoimmune diseases may depend on a complex relationship between genes as well as transcriptional and epigenetic factors affecting gene expression across the genome...
February 27, 2019: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://read.qxmd.com/read/30811776/growth-and-growth-hormone-in-turner-syndrome-looking-back-looking-ahead
#14
Evan Los, Ron G Rosenfeld
Short stature is the most ubiquitous feature of Turner syndrome (TS). Today, many girls with TS are treated with recombinant human growth hormone (GH) to accelerate growth in childhood and to improve adult height. Here, we will review the history of our understanding of growth in TS, reflect on the path of clinical trials ultimately leading to regulatory approval for clinical use of GH, discuss factors associated with growth outcomes and survey the current unanswered questions about growth and GH in TS.
February 27, 2019: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://read.qxmd.com/read/30810259/the-impact-of-somatic-mosaicism-on-bicuspid-aortic-valve-and-aortic-dissection-in-turner-syndrome
#15
Siddharth K Prakash
Somatic mosaicism is a major modifier of turner syndrome (TS) features and may be more prevalent than once thought, as new molecular techniques enable detection of tissue-specific mosaicism. This review explores the causes of mosaicism, discusses how mosaicism may impact congenital aortic defects in TS, and summarizes molecular methods to detect mosaicism in different contexts.
February 27, 2019: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://read.qxmd.com/read/30809949/sex-hormone-replacement-therapy-for-individuals-with-turner-syndrome
#16
Philippe Backeljauw, Karen Klein
Turner syndrome is a relatively common genetic condition resulting from absence of all or part of the second sex chromosome. Individuals with Turner syndrome commonly exhibit cardiovascular, endocrine, renal, reproductive, and/or psychosocial abnormalities, among other conditions. Most girls with Turner syndrome have hypergonadotropic hypogonadism and therefore need sex steroid hormonal replacement therapy. The optimal estrogen replacement treatment regimen to induce pubertal development is still being determined...
February 26, 2019: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://read.qxmd.com/read/30801969/achieving-the-targets-of-sustainable-development-goals-2030-agenda-for-congenital-disorders-in-asia-bottlenecks-and-interventions
#17
REVIEW
Meow-Keong Thong
The United Nations General Assembly adopted the 2030 Agenda for Sustainable Development in November 2015 which included a set of 17 measurable "sustainable development goals" (SDGs). The SDGs included targets to end preventable deaths of newborns and children under 5 years of age by 2030, universal health care coverage, reduction of premature mortality from noncommunicable diseases (NCDs) by 33% as well as support the development and research for medicines for both communicable and NCDs. Although some successes were achieved in combating communicable diseases and improved childhood mortality rates, health systems in Asia are generally characterized by lack of accurate epidemiological information on congenital disorders, lack of human and financial resources, and inadequate focus on public health strategies to ensure targeted interventions, low level knowledge on congenital disorders amongst the community and healthcare providers and the ethical dilemma of managing rare congenital disorders in an environment of low national health expenditures...
February 23, 2019: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://read.qxmd.com/read/30790449/a-strategic-research-alliance-turner-syndrome-and-sex-differences
#18
REVIEW
Adrianna K San Roman, David C Page
Sex chromosome constitution varies in the human population, both between the sexes (46,XX females and 46,XY males), and within the sexes (e.g., 45,X and 46,XX females, and 47,XXY and 46,XY males). Coincident with this genetic variation are numerous phenotypic differences between males and females, and individuals with sex chromosome aneuploidy. However, the molecular mechanisms by which sex chromosome constitution impacts phenotypes at the cellular, tissue, and organismal levels remain largely unexplored. Thus, emerges a fundamental question connecting the study of sex differences and sex chromosome aneuploidy syndromes: How does sex chromosome constitution influence phenotype? Here, we focus on Turner syndrome (TS), associated with the 45,X karyotype, and its synergies with the study of sex differences...
March 2019: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://read.qxmd.com/read/30779428/how-do-genes-that-escape-from-x-chromosome-inactivation-contribute-to-turner-syndrome
#19
Samantha B Peeters, Andrea J Korecki, Sarah E L Baldry, Christine Yang, Kira Tosefsky, Bradley P Balaton, Elizabeth M Simpson, Carolyn J Brown
X-chromosome inactivation generally results in dosage equivalence for expression of X-linked genes between 46,XY males and 46,XX females. The 20-30% of genes that escape silencing are thus candidates for having a role in the phenotype of Turner syndrome. Understanding which genes escape from silencing, and how they avoid this chromosome-wide inactivation is therefore an important step toward understanding Turner Syndrome. We have examined the mechanism of escape using a previously reported knock-in of a BAC containing the human escape gene RPS4X in mouse...
March 2019: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://read.qxmd.com/read/30775849/cardiometabolic-health-in-turner-syndrome
#20
REVIEW
Shanlee M Davis, Mitchell E Geffner
Individuals with Turner syndrome (TS) have a higher morbidity and mortality compared to the general population. Diabetes and cardiovascular disease are the major contributors to this burden. Precursors to diabetes and cardiovascular disease make up what is known as metabolic syndrome, including abdominal obesity, hypertension, dyslipidemia, and elevated fasting glucose. These features of poor cardiometabolic health are also prevalent among women with TS. Youth with TS also exhibit many of these features, indicating that the pathogenesis of these cardiometabolic conditions may begin early in life...
March 2019: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
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