Background: The premenstrual syndrome (PMS) is a collection of physical and emotional symptoms that occurs related to women’s menstrual cycle. PMS usually occurs a few days before the onset of menstruation and relieved by the onset of menstruation. There are more than 200 reported symptoms and the most usual symptoms include abdominal bloating, back pain, breast pain, irritability, fatigue, depression and change in eating patterns. However, the cause of PMS is not clear, but a number of factors have been suggested including disturbances in hormones and neurotransmitters, dietary intake and life style. Besides medication to relieve the symptoms, there are alternative prevention methods including diet and lifestyle changes including regular exercise, adequate sleep, and healthy balanced diet. High soy product intake is one of the suggested alternative dietary therapies for PMS by reducing circulating estrogen. Prior studies have indicated that isoflavones can affect estrogen metabolism and influence ovarian cyclicity. Since PMS is common in Hong Kong, it causes significant burden on quality of life in economic and social aspects by affecting social activities, working, or health care use. Objectives: To investigate the association between dietary soy intake and premenstrual syndrome among young Chinese female Design: A cross-sectional analytical study Methods: The research was carried out in a sample of 242 young Chinese women (mean age 20.8±2.59 years) who are students at the University of Hong Kong in April 2012. Face-to-face survey was carried out in campus. Self-administered questionnaire was used to obtain demographic data. A semi-quantitative food frequency questionnaire with 20 food items was used to estimate the habitual dietary soy exposures. Moos Menstrual Distress Questionnaire was used to assess menstrual history and the PMS score. The study protocol received the approval of the Institutional Review Board of The University of Hong Kong/ Hospital Authority Hong Kong West Cluster. (UW 11-485) Results: 60% of participating women reported to have premenstrual syndrome. The mean score of total MDQ results at menstrual phase, premenstrual phase and postmenstrual phase were 378.5±70.05, 372.9±66.21, and 351.6±36.3 respectively. Soy intake was significantly negative correlated with MDQ scores in premenstrual phase (r=-0.191, p<0.05) and menstrual phase (r=-0.249, p<0.001). The beneficial effect of dietary soy was especially in pain, auto reaction and behavioral change (p<0.05). Adjusted for potential confounders, soy intake was independently associated with reduced PMS (B= -0.496, p<0.001) at premenstrual phase. Only 37% of those women with PMS would take medication or doctor consultation to relieve the symptoms. Over 78% of participating women were willing to try dietary therapy if it was reported to be helpful. Physical symptoms were the most commonly reported. Conclusions: Soy intake was associated with reduced PMS score, suggesting it may have beneficial effects on preventing or alleviating severity of PMS. Further prospective study and randomized controlled trials will be needed to demonstrate causality and clinical effectiveness. / published_or_final_version / Public Health / Master / Master of Public Health

Waardenburg-Shah syndrome (WS4, MIM_277580) is a congenital developmental disorder characterized by pigmentary abnormalities of the skin, eyes and hair, sensorineural deafness and intestinal aganglionosis (HSCR; Hirschsprung disease). Mutations in the coding regions of EDN3, EDNRB, or SOX10 account for 65-85% of the WS4 patients. These mutations are not fully penetrant, contributing to the phenotypic variability of WS4. We screened these genes in a three-generation family (14 individuals; three members affected with HSCR only and one affected with “partial’ WS4 –iris heterochromia and HSCR-). A novel heterozygous missense mutation was identified in EDNRB. EDNRB encodes the EDNRB receptor, which is essential for the differentiation of the neural crest cells into melanocytes, enteric ganglia and Schwann cells. The mutation was present in four affected and three unaffected family members. In the EDNRB isoforms 1 and 2, the mutation results in the replacement of the translation initiation codon methionine (Met) with a valine (Val) and such replacement (M1V) would theoretically abolish the use of the translation initiation codon. However, in EDNRB isoform 3, the replacement is at Met91 (M91V) and is predicted benign. Since different EDNRB transcripts are expressed concomitantly in the still developing newborn's gut, we theorized that the intra-familial variability of the phenotype could be related to the expression ratio between benign and damaging isoforms. We examined the consequences of M1V or M91V in their respective isoforms. Constructs containing either wild-type cDNA of isoform 1 and 3 or their mutated counterpart were transiently transfected into Human Embryonic Kidney 293 cell (HEK293). Confocal and immunoblot experiments showed that EDNRB M1V generated a shortened protein (starting from Met46); the wild-type-EDNRB isoform 3 or its mutant (p.M91V) were only found in the cytosol. Although EDNRB M1V was able to generate a shorter protein, the later failed to translocate onto the cell membrane, theoretically, affecting signal-transduction. Isoform 3 did not seem to play a role as cellular receptor. We also identified a c.-248G/A rare change at the 5’-untranslated region (5’UTR) of EDN3 (EDNRB ligand) which was predicted to affect translation efficiency. The presence of this variant in affected individuals but not in healthy carriers of the EDNRB mutation, suggests that both variants are necessary for the disease manifestation. Variations within the disease phenotype may be due to each individual’s genetic background. To identify other susceptibility loci, we carried out whole-genome linkage scan in this family using a high density SNP assay. Merlin software was used for parametric and non-parametric linkage. A susceptibility locus on chromosome 4q13.3-q24 was identified by both nonparametric and parametric linkage analyses, with LOD scores of 1.204 and 1.7109 respectively. Haplotype analysis refined the region to a 27.76 cM interval, in which genes involved in neuron development reside. To conclude, the novel EDNRB M1V mutation in this family may lead to HSCR and/or WS4 when in conjunction with other genetic lesions, such as the EDN3 5’UTR rare variation and/or a not yet identified susceptibility locus on chromosome 4q13.3-q24. / published_or_final_version / Surgery / Master / Master of Philosophy

Minor physical anomalies (MPA) are mild congenital malformations in external physical abnormalities that are observed in neurodevelopmental disorders such as velocardiofacial syndrome (more commonly known as 22q11.2 deletion syndrome), autism and schizophrenia. It has been reported that about three-quarters of MPAs can be found in the craniofacial region, such as low-seated ears, high-steepled palate, altered interorbital distance. Furthermore, both eye and brain development are tightly linked, and interorbital distance and optic chiasmic angle in adulthood are perinatally fixed. Therefore my study investigated MPAs of the optic system in two neurodevelopmental disorders, 22q11.2 deletion syndrome and autism spectrum disorders (ASD). The four selected MPAs included 1) inter-orbital distance, 2) the optic chiasmic angle, 3) anterior extension of optic nerves ‘a’, and 4) posterior extension of optic nerves ‘b’. They were investigated in two individual studies, the first comprising 17 adults with ASD and 21 controls while the second comprised 27 adults with 22q11.2 deletion syndrome and 28 controls. Their MRI scans were analysed with respect to the MPAs. The main finding was that adults with ASD had significantly larger total brain volume which was positively correlated with the anterior extension of optic nerves ‘a’, but not the other optical MPAs. This suggested that the larger brain volume was more related to frontal brain enlargement. As no relevant significant results were obtained in the controls nor adults with 22q11.2 deletion syndrome, such finding appears pertinent to ASD adults, rather than that to a genetic neurodevelopmental disorder. However, this finding is only preliminary, and other neurodevelopmental disorders should be included for comparison with ASD and healthy controls. The use of MRI appears to be a feasible tool to assess MPAs. Future work will focus on whether these observations can be replicated across the life-span by evaluating these parameters in children with ASD, as well as adults with other neurodevelopmental disorders. / published_or_final_version / Psychiatry / Master / Master of Philosophy

Kunskapen och undersökningarna kring tarmfloran och dess koppling till flera sjukdomar ökar i snabb takt samtidigt som underliggande faktorer för utveckling av metabola syndromet blir allt vanligare. Den västerländska livsstilen med minskad fysisk aktivitet och ökad kroppsvikt leder till allt fler hjärt- och kärlsjukdomar. Studier tyder på att personer med övervikt, diabetes och andra sjukdomar har annorlunda sammansättning av tarmfloran jämfört med friska personer, men orsaken till variationerna är inte helt klarlagd. Genom analys av sju vetenskapliga artiklar undersöktes tarmflorans betydelse för faktorer inkluderade i metabola syndromet, samt om pro- eller prebiotikas effekter är av betydelse. Denna litteraturstudie gav varierande resultat beroende på vilken typ av pro- eller prebiotika som intogs, och sammantaget krävs fler studier för att kartlägga tarmflorans koppling till bland annat blodtryck, body mass index (BMI) och glukostolerans.

The effective encoding and interpretation of facial expressions is critical to inferring the intentions, motivation, and emotional state of others. Asperger syndrome (AS) is a pervasive, neurodevelopmental condition characterized by significant deficits in social interaction, impaired use of language, and stereotyped interests and activities. Deficient encoding and interpretation of facial expressions is likely related to the social difficulties experienced by those with AS. A video-based intervention administered via Internet is proposed for young children with AS. This research hopes to clarify the questions (1) are young children with AS able to interpret simple emotions and (2) can they learn the skills necessary to interpret complex emotions. Data will be analyzed using multivariate analysis of covariance. / text

No description available.

Restless legs syndrome (RLS) is a sensorimotor disorder that often starts at a young age and has a chronic progression throughout life. It has a very high incidence, affecting 10% of the general population. The majority of cases are familial and the genetic nature of the disorder has been demonstrated in twin studies. RLS segregates in an autosomal dominant way in the majority of families. This data has incited a search for genetic factors responsible for RLS using linkage as the approach. Dr. Rouleau's laboratory has one of the world's largest collections of RLS pedigrees. These families are mostly of French Canadian (FC) origin. / Using these families, two novel candidate loci, on chromosomes 16p and 20p, were discovered. Also, previously described candidate loci on chromosomes 9p and 14q were replicated in this cohort of families. / A duplication of a large part of a functional candidate gene in the locus on chromosome 20, Signal Regulatory Protein beta 1 (SIRPB1), was discovered in individuals affected with RLS from a FC pedigree, in which linkage to this locus was described. The duplication segregates with the disease status in the family, but its role in RLS pathogenesis has yet to be demonstrated. / No disease-causing mutations were discovered in the chromosome 16 locus. Analysis of several functional and positional candidate genes in previously described loci on chromosomes 12 and 14 did not reveal disease-causing mutations. / A follow up of these studies is necessary in order to confirm the implication of SIRPB1 in RLS pathogenesis, and to detect novel gene(s) whose deregulation leads to this disorder.

This study examined the effectiveness of two types of assistive technology for writing instruction of students with Down syndrome in British Columbia. Students received either Clicker 5, a symbol-supported writing software program; or Co:Writer, a word prediction software program designed to support written output. Data collection was conducted between January-June 2007 (Year 1) and October-May 2008 (Year 2). Clicker 5 was provided to 43 students in Year 1 (17 of whom also participated in the study during Year 2) and was designed to support early and emergent literacy development. Co:Writer was provided to 18 students in Year 1 (2 of whom also participated in the study during Year 2) and was designed to support text writing. Each month during both school years, teachers were asked to complete an on-line survey with questions related to their impressions of the impact of the technology and other variables. Students in the Clicker group produced 10-minute monthly writing samples about a selected topic using a Clicker grid designed by the research team. Students in the Co:Writer group produced one handwritten and one Co:Writer-supported 10-minute writing sample every month about the specified topic. Data were analyzed with regard to writing rate, spelling accuracy (Co:Writer group only), and quality (measured both analytically and holistically). Results for dependent measures of writing for the Clicker group were variable but provided some support for the use of symbol-supported writing software for producing meaningful written output. The Co:Writer group was more accurate with regard to spelling and grammar while using Co:Writer compared to handwriting. The results are discussed in terms of the practical implications, limitations, and areas for future research.

The study aim was to evaluate the risk factors, clinical components, diagnostic criteria of the metabolic syndrome (MS) and to estimate its relationship with neuropsychiatric disorders. This is the first study in Lithuania in which were examined the relationship between neuropsychiatric disorders (major depression, dysthymia, suicidality, posttraumatic stress disorder, generalized anxiety disorder) and the MS in randomized population based adult sample. Were evaluated relationship between demographic characteristics and MS rate, were elucidated prevalent risk factors and clinical components and evaluated ability of MS diagnostic criteria to identify subjects with insulin resistance. It was established, that MS was more frequent in women, in elderly and in unemployed subjects; more prevalent components – arterial hypertension and central obesity; the central obesity, hypertension, hyperglycemia and microalbuminuria were established more prevalent in the elderly; the odds to have MS increases with higher stage of carbohydrate disorder; the type 2 diabetes mellitus in family history and obesity increases odds to have the MS; the usage criteria of the World Health Organisation or International Diabetes Federation for diagnostic of MS provides significant more odds to identify subjects with insulin resistance; the significant relationship were assessed between the MS and these neuropsychiatric disorders: major depression, suicidality and posttraumatic stress disorder.

No description available.