Genetic and Epigenetic Factors Contributing to Autism Spectrum Disorders

Autism spectrum disorders represent a group of developmental disorders with strong genetic predisposition, including numerous monogenic disorders and chromosomal abnormalities. More recently the etiology of autism spectrum disorders has expanded to include genomic copy number variants and epigenetic factors. This article will briefly review our current understanding of the genetic and epigenetic factors contributing to autism spectrum disorders as well as the direction of current and future research studies, using a case scenario.link_to_OA_fulltex

Infantile systemic hyalinosis presenting as multiple joint pain in a Pakistani infant girl

Poster Presentation (Doctor’s Session)This journal issue contain Proceedings of the CongressBACKGROUND: Infantile systemic hyalinosis (ISH) is a rare autosomal recessive disorder characterized by abnormal hyaline deposits in the papillary dermis and other tissues. It presents in early infancy with severe pain with movement, progressive joint contractures, thickened skin and hyperpigmented macules over bony prominence. Gingival hypertrophy, skin nodules, perianal masses are common but late findings. We report a female infant with ISH and subsequently confirmed to have known pathogenic mutations in the ANTXR2 ...postprin

Stanniocalcin-1 Reduces Tumor Size in Human Hepatocellular Carcinoma

Growing evidence has revealed high expression levels of stanniocalcin-1 (STC1) in different types of human cancers. Numerous experimental studies using cancer cell lines demonstrated the involvement of STC1 in inflammatory and apoptotic processes; however the role of STC1 in carcinogenesis remains elusive. Hepatocellular carcinoma (HCC) an exemplified model of inflammation-related cancer, represents a paradigm of studying the association between STC1 and tumor development. Therefore, we conducted a statistical analysis on the expression levels of STC1 using clinicopathological data from 216 HCC patients. We found that STC1 was upregulated in the tumor tissues and its expression levels was positively correlated with the levels of interleukin (IL)-6 and IL-8. Intriguingly tumors with greater expression levels of STC1 (tumor/normal >= 2) were significantly smaller than the lower level (tumor/normal<2) samples (p = 0.008). A pharmacological approach was implemented to reveal the functional correlation between STC1 and the ILs in the HCC cell-lines. IL-6 and IL-8 treatment of Hep3B cells induced STC1 expression. Lentiviral-based STC1 over-expression in Hep3B and MHCC-97L cells however showed inhibitory action on the pro-migratory effects of IL-6 and IL-8 and reduced size of tumor spheroids. The inhibitory effect of STC1 on tumor growth was confirmed in vivo using the stable STC1-overexpressing 97L cells on a mouse xenograft model. Genetic analysis of the xenografts derived from the STC1-overexpressing 97L cells, showed upregulation of the pro-apoptotic genes interleukin-12 and NOD-like receptor family, pyrin domain-containing 3. Collectively, the anti-inflammatory and pro-apoptotic functions of STC1 were suggested to relate its inhibitory effect on the growth of HCC cells. This study supports the notion that STC1 may be a potential therapeutic target for inflammatory tumors in HCC patients.published_or_final_versio

Spinal muscular atrophy (SMA) - natural history and functional status in Hong Kong children

OBJECTIVE: To study the natural history and current functional status of children with SMA in Hong Kong. METHODS: A SMA Registry had been collected since 1984 in Duchess of Kent Children’s Hospital. Families of SMA (FSMA) has been established in 2000. A total 102 SMA cases had been collected. We analyzed 81 SMA cases (34 males; 47 females) with clinical information available in September 2002. SMA cases were classified according to classification of the International SMA Consortium. SMA type III was further …published_or_final_versio

From heterotaxy to VACTER-H syndrome: the clinical variability of ZIC3-related disorders

BACKGROUND: The ZIC3 gene functions as a transcription factor in early stages of left-right body axis formation. Mutations in ZIC3 gene cause a variety of clinical manifestations including isolated congenital heart disease (CHD), heterotaxy & other midline CNS, urogenital & hindgut malformations. We report a four generation family with X-linked heterotaxy associated with a deletion of the ZIC3 gene at ...postprin

2q23.1 microdeletion involving the MBD5 gene - large deletion associated with a relatively mild phenotype

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With others and for others: accounting for decisions about genetic testing in the Clinic

Poster PresentationWhile there are various factors influencing clients' decisions about genetic testing; testing for the sake of others is not uncommon. This paper focuses on decisions about testing (DOT) when a genetic mutation is identified in a Sudden Arrhythmia Death Syndromes (SADS) patient and it is unclear whether the mutation is the cause of the disease. Family members are then asked to consider genetic testing to ascertain the client’s genetic status and future risk. The paper examines, at the interactional level, how genetic counselors, clients and family members negotiate decisionmaking involving others. The data consists of 23 video-recorded consultations obtained from a Hong Kong hospital. Episodes of decisionmaking about testing are identified and extracted from the transcribed data. By using theme-oriented discourse analysis, the analysis focuses on the discourse strategies that participants employ to foreground the possible benefits when other family members undergo the genetic test. Preliminary findings show a disjuncture of perspectives between genetic counselors and family members in terms of the benefits of testing. While genetic counselors see testing as a means of confirming the diagnosis and managing risk, family members voice concerns about the usefulness of the test for a client's treatment. To mitigate these different perspectives on DOT, participants use a range of discourse strategies, such as contrast, foregrounding, self-and-other construction as a way of emphasizing future scenarios. This study, in sum, elucidates how other-oriented decisions are made in the clinical setting.published_or_final_versio

Restrictive dermopathy with massive thrombosis: a previously uncreognized finding

Restrictive dermopathy (RD) is a lethal genodermatosis characterized by IUGR, tight and rigid skin, prominent superficial vasculature, epidermal hyperkeratosis, typical facial features, sparse/absent eyelashes and eyebrows, thin dysplastic clavicles, pulmonary hypoplasia and arthrogryposis. It is caused by LMNA or, more frequently, ZMPSTE24 mutations. We report 2 siblings with RD and ZMPSTE24 mutations. CASE REPORT: The mother is 28y G2P1. The couple was 1st cousin of Pakistani origin. Family history was unremarkable. The 1st pregnancy resulted in IUD at 27w, preceded by decreased fetal movement, oligohydramnios and IUGR at 24w. Autopsy was inconclusive and G-banding was not possible. Placenta showed ...postprin

Is the price an important factor for the members of Södra Skogsägarna when thinning?

Genom ett samarbete med Södra Skogsägarna har denna studie utarbetats för att ge svar på frågan till vilken grad medlemmarna, i skogsägarföreningen, tar prisbilden i anspråk i sitt val av gallringstidpunkt. Genom att gå igenom de kontrakt som skrivits mellan åren 2008-2013 har priser och skrivna kontrakt analyserats för att utreda sambanden dem emellan. De hypoteser som fanns inför studien var att priset skulle vara av intresse och betydelse för medlemmarna samt innebära en högre påverkan ju större fastigheterna var. Det rådde dock tveksamhet om att priset enskilt skulle vara en avgörande faktor för skogsägarna att gallra. Tidigare genomförda studier som berört ämnet gav en uppfattning av att hypotesen inför den egna studien, i relativt hög grad, överensstämde med de tidigare resultat som framställts. Data från kontrakten bearbetades i Excel och ställdes upp i tabeller. Utifrån tabellerna gjordes sedan diagram som gav en visuell bild av resultatet. För att säkerställa resultatens relevans från Excel gjordes även analyser i det statistiska analysprogrammet Minitab. Dessa analyser gav resultat i form av hur statistisk säkerställt förhållandet mellan pris och gallringsvolymer var. Av denna studies resultat att döma så fanns det kopplingar som tydde på att priset haft inverkan på medlemmarnas gallringstidpunkt. Kopplingarna var dock av svag karaktär vilket gav uppfattningen att flera faktorer tillsammans måste överensstämma för att resultera i ett skrivet kontrakt. Det erhölls även resultat som påvisade tendenser till att ökad hänsyn till pris tagits med ökande storlek på skogsinnehav.Through collaboration with Södra Skogsägarna this study has been designed to answer the question to what extent the members of forest owners' association take price to consideration in their timing of thinning. By going through the contracts signed between the years 2008- 2013 and the different prices during the same time, analyses were made to investigate the relationship between them. The hypothesis was that the price would be of interest and importance to the members and those members with bigger properties would be more sensitive. However, it is not likely that the price alone would be the only factor for forest owners to contract thinning. Earlier studies that studied the subject indicated that other factors than the price is important for thinning decisions. Data from the contracts were processed in Excel and organized in tables. The first analysis was charts that provided a visual image of the relationship between price and thinnings. To corroborate the results from the ocular Excel analysis a statistical examination was performed in the program Minitab in terms of correlations and regression analysis. These result shows that there is a statistically significant relationship between price and thinnings. The main result of this study is that the price had an impact on members' choice of thinning time and quantity. The price is not the only factor influencing thinning and several factors must be taken into account before the forest owners decide to sign contracts. The results also showed a tendency that price is more important with increasing size of the owners’ properties

Effects of depressive symptoms and family satisfaction on health related quality of life: The Hong Kong FAMILY study

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