North American Journal of Medicine and Science
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Building Reproductive Genetic Services from Bottom Up: Over 30-year Experience of a Major Prenatal Diagnostic Center in Guangdong Province
Get PDFPrenatal diagnosis plays an important role in preventing birth defects and improving birth quality. Through continuous efforts from the past three decades, the Guangdong Women and Children’s Hospital has transform a small department of medical genetics into a prenatal center for genetic disease diagnosis and treatment (PCGDDT). A wide spectrum of genetic tests including clinical cytogentics, biochemical screening and molecular genetics has been performed. A biobank of patient specimens for translational research has been established. PCGDDT has been one of the key disciplines of Guangdong Women and Children Hospital and master degree training hospital for Guangzhou Medical University, state-level professional training base in clinical and laboratory technology, and priority specialty of Guangdong Province. Our experience represents a bottom up approach to build sustainable hospital-based and institute-affiliated genetic services in China. [N A J Med Sci. 2013;6(4):216-218. DOI: 10.7156/najms.2013.0604216
Challenges and Needs of Chinese and Korean American Breast Cancer Survivors: In-Depth Interviews
No full textBreast cancer incidence and the number of breast cancer survivors have been rapidly increasing among Chinese and Korean women in the United States. However, few data are available regarding quality of life in Asian American breast cancer survivors. This qualitative study aims to describe Asian American women’s perceptions of quality of life and their breast cancer experiences. In-depth interviews with four Chinese and five Korean American breast cancer survivors and three oncologists were conducted in Chinese, Korean, or English. Interviews were recorded and transcripts were translated into English. Qualitative analyses were performed by two independent coders and then discussed and agreed upon by the research team. The respondents reported that the breast cancer experience had affected various domains of quality of life, but women reported having limited resources with which to cope effectively. Depression, anxiety, and stress were commonly reported, but women rarely discussed these issues with family and friends or sought professional help. As immigrants, women’s loneliness and a lack of social support and culturally relevant resources seemed to be major barriers to maintaining good quality of life. Women also expressed interest in learning more about alternative therapies and relaxation skills. These findings can be used to help inform the development of a culturally appropriate intervention for Asian American breast cancer survivors. Future programs may provide information in women’s native languages to teach skills to cope with stress and anxiety, increase women’s self-efficacy within the context of their cultural background, and enhance social support among women from the same ethnic group.
The Pathology of Pemphigus: A Mini-Review
Get PDFPemphigus is a rare group of blistering autoimmune diseases that affect the skin and mucous membranes. Variants of pemphigus are now known to be associated with certain medications, underlying malignancy and even an endemic form is well recognized. Following the discovery of the autoimmune basis of pemphigus, specific treatment regimens have made strides in significantly reducing the morbidity and mortality once associated with the disease. Traditional histopathology and tissue based techniques have played a pivotal role in the understanding of pemphigus and in highlighting the diversity within this group of diseases. The examination of skin biopsies by light microscopy and immunofluorescence remains the standard for diagnosis today
Oxidative Stress—the Key Mechanism of Diabetic Peripheral Neuropathy
No full textIn China, there are more than one hundred million people with diabetes, among which 60% have diabetic peripheral neuropathy (DPN). However, because of the unclear mechanism there is no effective drug for DPN. In this review, we present the current oxidative stress hypothesis and the relationship between the classical and accepted DPN mechanism pathways and oxidative stress. Furthermore, the two signal pathways are important for oxidative stress. Recent studies have focused on the intracellular oxidative stress, especially from mitochondria. As the foremost energy metabolic organelle mitochondria is affected in many aspects after hyperglycemia. Better understanding of the relationship between DPN and oxidative stress may provide insights into new drug therapies. [N A J Med Sci. 2013;6(2):87-90. DOI: 10.7156/najms.2013.0602087
Developing a Predictive Gene Classifier for Autism Spectrum Disorders Based upon Differential Gene Expression Profiles of Phenotypic Subgroups
Get PDFAutism spectrum disorders (ASD) are neurodevelopmental disorders which are currently diagnosed solely on the basis of abnormal stereotyped behavior as well as observable deficits in communication and social functioning. Although a variety of candidate genes have been identified on the basis of genetic analyses and up to 20% of ASD cases can be collectively associated with a genetic abnormality, no single gene or genetic variant is applicable to more than 1-2 percent of the general ASD population. In this report, we apply class prediction algorithms to gene expression profiles of lymphoblastoid cell lines (LCL) from several phenotypic subgroups of idiopathic autism defined by cluster analyses of behavioral severity scores on the Autism Diagnostic Interview-Revised diagnostic instrument for ASD. We further demonstrate that individuals from these ASD subgroups can be distinguished from nonautistic controls on the basis of limited sets of differentially expressed genes with a predicted classification accuracy of up to 94% and sensitivities and specificities of ~90% or better, based on support vector machine analyses with leave-one-out validation. Validation of a subset of the “classifier” genes by high-throughput quantitative nuclease protection assays with a new set of LCL samples derived from individuals in one of the phenotypic subgroups and from a new set of controls resulted in an overall class prediction accuracy of ~82%, with ~90% sensitivity and 75% specificity. Although additional validation with a larger cohort is needed, and effective clinical translation must include confirmation of the differentially expressed genes in primary cells from cases earlier in development, we suggest that such panels of genes, based on expression analyses of phenotypically more homogeneous subgroups of individuals with ASD, may be useful biomarkers for diagnosis of subtypes of idiopathic autism.[N A J Med Sci. 2013;6(3):107-116. DOI: 10.7156/najms.2013.0603107
Tetrahydrobiopterin May Be Transported into the Central Nervous System by the Folate Receptor α
Get PDFThe aim of this study was to determine if tetrahydrobiopterin (BH4), a cofactor that is essential for several critical neurometabolic pathways, is transported across the blood-brain barrier (BBB) using the same transport mechanism as folate. In this study we examined 30 children with ASD (mean age 7.5 years, standard deviation 3.2 years; 23% female). We studied autoantibodies that interfere with the binding of folate to the folate receptor α (FRα) – a receptor that is critically involved in the transport of folate across the BBB. The relationships between cerebrospinal fluid (CSF) BH4 concentrations with FRα autoantibody titers as well as with the interaction between CSF 5-methyltetrahydrofolate (5MTHF) concentration and FRα autoantibody titers were studied. CSF BH4 concentration was found to be lower in individuals with higher FRα blocking, but not binding, autoantibody serum titers, suggesting that interference with FRα dependent BBB transport interferes with BH4 transport across the BBB. This effect was not explained by lower CSF 5MTHF concentrations, thereby reducing the possibility that low CSF BH4 concentrations were secondary to low central folate. In addition, CSF BH4 concentration was inversely correlated with the interaction between CSF 5MTHF and FRα blocking autoantibody titers suggesting that BH4 competes with folate for FRα dependent transport across the BBB. These data suggest that FRα dependent transport mechanisms may be involved in the transportation of BH4 across the BBB.[N A J Med Sci. 2013;6(3):117-120. DOI: 10.7156/najms.2013.0603117
Progress and Perspective of Professional Training in Medical Genetics and Genomics: A Report of the Association of Chinese Geneticists in America
Get PDFMedical genetics and genomics is a newly developed clinical specialty built upon accumulated knowledge of human genetics and discoveries of thousands of genetic disorders. Since 1991, medical genetics has been recognized as one of the 24 medical specialties and the American Board of Medical Genetics (ABMG) has organized training programs and provided certifications in clinical genetics, cytogenetics, molecular genetics and biochemical genetics. To publicize and promote this specialty, a task force on professional medical genetics training has been organized by members of the Association of Chinese Geneticists in America (ACGA). This report was written by the task force to outline the principle and practice of professional medical genetics training and review the progress and impacts of medical genetics and genomics in North America. For the past twenty years, the American College of Medical Genetics and Genomics (ACMG) has built a professionally trained work force and developed many policies, guidelines and standards governing clinical services and laboratory diagnostics. Educational programs to improve the knowledge and literacy on medical genetics for other health professionals and general public have been introduced. A comparison of the economic impact between basic genomic research and diagnostic genetic service showed similar impact multipliers in creating jobs and revenues. Genetic and genomic medicine is still in a stage of early development and rapid expansion but has been the driver for transforming ‘diagnostics/counseling’ based disease treatment toward ‘predictive/preventive’ oriented health maintenance. This report is aimed to introduce professional medical genetics training to qualified physicians and graduate students and also facilitate medical genetics specialty in China through professional consultation and exchange training programs. [N A J Med Sci. 2013;6(4):173-180. DOI: 10.7156/najms.2013.0604173
Fragile X Syndrome in China
Get PDFFragile X syndrome (FXS) is the most common form of inherited intellectual disability (ID), and the leading monogenic cause of autism spectrum disorders. The FXS cases in China were first reported in 1984, and effort has been made to improve the wellbeing of FXS patients. However, the general Chinese population is unfamiliar with FXS due to the limited public education. Even among those with medical training, there is a lack of awareness. Here our review aims to provide basic information on FXS, introduce the clinical aspects of FXS in China, and outline future research and policy recommendations that may in the future improve FXS genetic testing and counselor training in the Chinese health system. [N A J Med Sci. 2013;6(4):181-185. DOI: 10.7156/najms.2013.0604181
Fragile X Syndrome in China
Get PDFFragile X syndrome (FXS) is the most common form of inherited intellectual disability (ID), and the leading monogenic cause of autism spectrum disorders. The FXS cases in China were first reported in 1984, and effort has been made to improve the wellbeing of FXS patients. However, the general Chinese population is unfamiliar with FXS due to the limited public education. Even among those with medical training, there is a lack of awareness. Here our review aims to provide basic information on FXS, introduce the clinical aspects of FXS in China, and outline future research and policy recommendations that may in the future improve FXS genetic testing and counselor training in the Chinese health system. [N A J Med Sci. 2013;6(4):181-185. DOI: 10.7156/najms.2013.0604181
Biobanking of Residual Specimens from Diagnostic Genetic Laboratories: Standard Operating Procedures, Ethical and Legal Considerations, and Research Applications
Get PDFClinical applications of high-throughput technologies such as microarray analysis, next generation sequencing and tandem mass spectrometry have significantly improved the diagnostic performance and research capacity for many genetic diagnostic laboratories. Biobanking of patients’ residual specimens and test records could be a useful resource for further research applications but related technical, ethical and legal issues need to be resolved. In this review, standard operating procedures and laboratory information management system for short-term and/or long term storage of residual original patient specimens and processed patient specimens have been outlined. To comply with current ethical and legal requirements, procedures for case-oriented consent, general informed consent and waiver of consent as well as methods for returning incidental findings and individual research results have been summarized. Diagnostic residual specimens have been used in many research projects to improve clinical quality and to characterize genetic defects for underlying disease-causing mechanisms. The advantages and disadvantages of diagnostic biobanking for research applications have been discussed. A model of ‘Diagnostics-Biobanking-Research-Returning’ is proposed to promote rapid transition and effective collaboration from diagnostic to research and eventually provide better preventive and therapeutic approaches for patients with genetic disorders.[N A J Med Sci. 2013;6(4):200-207. DOI: 10.7156/najms.2013.0604200