North American Journal of Medicine and Science
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Anti-HBV Activities of Xanthones From Swertia Punicea Hemsl
Get PDFWe studied the effects of two xanthones compounds isolated from Swertia punicea Hemsl (from Geutianaceae), swertianolin (I) and bellidifolin (II), on Hepatitis B surface antigen (HBsAg) and e antigen (HBeAg) in cultured human hepatocellular carcinoma cell line (HepG2). The HepG2 cells were first cultured for 24h, various concentrations of these two xanthones were then added to the culture medium. The culture medium containing the two xanthones was exchanged once every 4 days. After 8 days, the cytotoxic activities of these two xanthones were assessed by cytopathic effect. The HepG2 cells were then treated with the two compounds at a concentration of swertianolin (1.6, 3.1, 6.2, 12.5, 25mg/ml) and bellidifolin (2.0, 3.9, 7.8, 25.5, 31.2mg/ml). Four or eight days later, the culture medium was collected and the expression of HBsAg and HBeAg were determined by radioimmunoassay. Our results show that swertianolin can suppress the expression of HBeAg with IC50 of 8.0mg/ml, while bellidifolin can inhibit the expression of HBsAg with IC50 of 13mg/ml at the eighth days. The Therapeutic Index for swertianolin and bellidifolin are 6.2 and 6.8, respectively. Our findings suggest that swertianolin and bellidifolin have anti-HBV activities in vitro
A Screening Tool of Social Cognition for Preschool Children
Get PDFTheory of Mind (TOM) tests can be used to assess the development of children’s social cognition has received. However, currently there is no Chinese version of TOM tests as screening tools for identification of children who are likely to have communication disorders and for early detection of ASD. Based on a Japanese version of TOM tests, we modified to form a Chinese Version and investigated its reliability and validity among 1095 preschool children in Guangzhou, China. The results demonstrated that the Chinese version of TOM test had good psychometrics properties, with adequate reliability and validity. In particular, the TOM test is appropriate for assessing the social cognition level of Chinese children
Management of Chronic Hepatitis C in Cirrhosis and Liver Transplant Population
Get PDFHepatitis C treatment has evolved tremendously since the discovery of the virus 24 years ago. Patients with cirrhosis, metabolic syndrome, co-infection with HIV, end stage renal disease and liver allograft recipients are particularly difficult to treat. At the same time, such patients often suffer from significant morbidity and mortality. This review primarily focuses on treatment of HCV infection in patients with cirrhosis and liver allograft recipients. First generation HCV protease inhibitors, boceprevir and telaprevir, improved sustained virologic response rates in both treatment naive and treatment experienced patients. However, both drugs are associated with significant adverse events and drug-drug interactions, thus limiting their use in patients with advanced liver disease and allograft recipients. The advent of highly effective and better tolerated oral anti-virals have dramatically enhanced treatment efficacy with response rates exceeding 90%. It is expected that such agents will significantly alter the outlook for difficult to treat HCV infected populations
Cultural Consideration of Resilience for Chinese Immigrant Children and Adolescents
Get PDFThe current article provides cultural considerations about resilience for Chinese immigrant children and adolescents for mental health professionals by 1) reviewing resilience and culture literature relevant to Chinese population and 2) reporting a pilot empirical study that compared Chinese and American middle school students’ perception of resilience on the ClassMaps Survey. Overall, the literature on resilience and culture suggests that across cultures, including the Chinese culture, there are common resilience factors for children and adolescents. These factors include social support (such as positive adult-child relationships, peer friendships, and positive home-school/parent-teacher relationships) and individual characteristics (such as self-control, self-determination or goal determination). Enhancement of these factors would promote all children and adolescents’ resilience, including Chinese immigrant children and adolescents. However, research also suggests that the expression and interpretation of the resilience factors, as well as the resilience mechanism, would depend on the culture. For Chinese students, academic self-efficacy does not play a significant role in resilience in school as for American students. Cultural strengths such as strong family relationships and Taoist and Confucianist approaches to adversity could be used for improving resilience among Chinese immigrants. It is hoped that, with cultural considerations, mental health professionals will facilitate resilience among Chinese immigrant children and adolescents more effectively.
Nonverbal Individuals with Autism Spectrum Disorder: Why Don’t They Speak?
No full textThe presence of even one word or some echolalic speech appears to be a significant predictor of spoken language acquisition in autism spectrum disorder (ASD). However, for a substantial subgroup of children on the spectrum who are nonverbal, the acquisition of functional speech remains elusive despite years of evidence-based intervention. These children have highly variable characteristics which, along with their challenging behaviors, pose a significant problem for assessment of cognition and language. This review highlights the growing need to develop creative measures of performance and brain activity that can reliably and accurately capture the strengths and weaknesses of this group. Comprehensive behavioral and/or augmentative treatments call for targeting key symptom areas of intentional communication, language, social and motor skills
RNA Sequencing and its Applications in Cancer Diagnosis and Targeted Therapy
Get PDFHigh throughput DNA and RNA sequencing (DNA-Seq and RNA-Seq) is increasingly impacting the clinical practice of medicine. RNA-Seq has so far had a smaller role in the clinical practice, but it has advantageous features and is complementary to DNA-Seq. RNA-Seq can profile the abundance and composition of the entire transcriptome, including both mRNA and non-coding RNA. It is thus capable of revealing diverse functional and structural changes affecting genes, such as gene overexpression, silencing and various abnormalities and alterations among which may be substitutions, deletions, inversions, alternative splicing and gene fusions. As cancers are characterized by many of these changes, RNA-Seq can be valuable for diagnosing and characterizing tumors. Here we will describe the use of RNA-Seq in cancer diagnosis and personalized therapy, with an emphasis on the detection of fusion transcripts, which are frequently associated with cancer and are often drug targets for cancer therapy
Prenatal Diagnosis of Xq26.1-q26.3 Duplication in Two Fetuses of a Woman with Gonadal Mosaicism
Get PDFWe report prenatal diagnosis of two affected males with an Xq26.1-q26.3 duplication from a mother with gonadal mosaicism. The first affected pregnancy was referred by ultrasound observed intrauterine growth retardation and abnormal cerebellar anatomy. Chromosome analysis on cultured amniocytes found a normal male karyotype but array comparative genomic hybridization (aCGH) detected a 4.808 Mb duplication at Xq26.1-q26.3. The proband was born at 35 weeks gestation. At age of three years, he presented with growth retardation, scoliosis, short stature and micropenis. Follow up aCGH analysis on a peripheral blood sample from the mother found a normal result. The second pregnancy was referred due to advanced maternal age and previous history of an affected child. Prenatal chromosome analysis on chorionic villus sampling found a normal male karyotype and aCGH detected the same Xq26.1-q26.3 duplication. The recurrence of this duplication indicated the presence of gonadal mosaicism in the mother. Of the 28 refseq genes within the duplicated region, mutations in genes AIFM1, IGSF1, FRMD7, GPC3, PHF6 and HPRT1 are known to be associated with syndromic phenotypes in the Online Mendelian Inheritance in Man (OMIM). It was reported that deletions of the GPC3 gene in males causes Simpson-Golabi-Behmel syndrome featuring an overgrowth phenotype and a deletion involving IGSF1 results in gonadal enlargement. The duplication of these two genes in our cases is associated with growth retardation and micropenis
Eosinophilic Esophagitis Presenting as Complete Esophageal Desquamation: An Unusual Case of Chest Pain
Get PDFThe diagnosis of eosinophilic esophagitis has been steadily increasing with the increase usage of endoscopy as a diagnostic tool. Here we present a case of complete esophageal desquamation visualized on endoscopy without any evidence of caustic ingestion or any other potential disease process that would cause a similar presentation. The diagnosis of eosinophilic esophagitis was established by significantly increased intraepithelial eosinophils, eosinphilic micro-abscess and partially detached squamous epithelium on the esophageal biopsy. There was complete resolution of symptoms with standard therapy for eosinophilic esophagitis. To the best our knowledge, this is the first reported case in the English literature of eosinophilic esophagitis that presents as complete esophageal desquamation
A 420 Kb Deletion within the Minimum Critical Region of the 15q24 Microdeletion Syndrome in a Female Infant
Get PDFRecurrent deletions of the chromosomal region 15q24 have recently been identified as the underlying cause of a novel microdeletion syndrome. A recent study comparing patients with 15q24 deletions of variable size defined a minimum critical deletion region of 1.7 Mb. The corresponding clinical phenotype includes intellectual disability, developmental delay, muscle hypotonia, dysmorphic facial features, skeletal anomalies, cardiac defects, and male genital anomalies. To date, 34 patients with a 15q24 deletion based on array CGH have been reported in the medical literature. Little is known about the genotype phenotype correlation for this genomic region. Case Report: We report a female newborn infant with a 420 Kb deletion within the reported 1.7 Mb critical region of the 15q24 deletion that was identified by array CGH. The infant had tetralogy of Fallot and dysmorphic facial features including a flat nasal bridge, hypertelorism, retro- and micrognathia. The 420 Kb deletion included 11 known genes: COMMD4, NEIL1, MIR631, MAN2C1, SIN3A, PTPN9, SNUPN, IMP3, SNX33, CSPG4, and ODF3L1. The 420 Kb deletion defines the minimum critical region of the 15q24 microdeletion syndrome. Conclusion: Thirty-one of 35 reported patients including the patient presented here, were classified phenotypically according to breakpoints and size. Haplo-insufficiency of the genes in the minimum region may contribute to the clinical phenotype observed in affected patients
Tertiary Education System for Genetic Technologists, Counselors and Specialists
Get PDFIn the United States, genetic and genomic medicine is operated by physicians who specialize in clinical genetics and its related entities and laboratory directors who specialize in cytogenetics, molecular genetics and biochemical genetics. Allied health professions, including genetic technologists that perform genetic testing in diagnostic laboratories and genetics counselors that interpret genetic testing results to patients, play important and integral roles. To provide an overview on the structure of the medical genetics education system and its contribution to a well-trained workforce for genetic and genomic medicine, this report presents the requirements, curriculum and certifications from two representative programs for Bachelor’s and Master’s level genetic technologists and Master’s level counselors and outlines training resources for M.D. and Ph.D, genetics specialists. This tertiary education system has built up a professionally trained workforce of approximately 1,500 clinical geneticists, an equal amount of laboratory genetic specialists, as well as over 3,000 genetic counselors, 3,700 cytogenetic technologists and 2,500 molecular genetic technologists in the United States. This system is effective for undergraduate, graduate and medical students seeking a career in medical genetics and genomics. It also serves as a good model for genetic educators working on developing and improving medical genetics education in other countries