Pubertal trajectory and the management of menstruation in females with Rett syndrome and Down syndrome

Background: Puberty is a challenging transition for all young women and particularly so for those with an intellectual disability. Individuals with an intellectual disability often experience both cognitive and physical impairment and a wide range of comorbidities. This review explores research into the pubertal trajectory and the management of menstruation in two syndromes within intellectual disability. Rett syndrome which is a severe neurodevelopmental disorder and Down syndrome which is a chromosomal birth disorder. Aim: The purpose of this review was to identify research exploring pube1ial trajectory and menstrual management in females with Rett syndrome and Down syndrome and to identify aspects of these syndromes which may impact puberty for these individuals. Methods: Databases MEDLINE, CINHAL, Proquest Health and Medical Complete and ISI web of Science/ Knowledge were electronically searched to identify relevant articles from earliest electronic record to 2010. A priori criteria for inclusion of studies were applied first to abstracts and to full texts. Studies were included if they explored reproductive, endocrinological, musculoskeletal systems or pube1iy in females with Rett syndrome, Down syndrome and Intellectual disability. Results: Electronic database searches identified 97 relevant miicles with predominately cross sectional methodology. Literature identified abnormalities in bone growth and endocrinothapies in Rett syndrome and a high prevalence of thyroid dysfunction in Down syndrome both of which have been documented to affect puberty. Epilepsy was highly prevalent in both syndromes suggesting high incidences of catamenial epilepsy. Menstrual management was affected by a wide variety of factors with no perfect solution presenting. Conclusion: Literature documented growth retardation, early pubarche and abnormal hormone secretion in Rett syndrome suggesting an underlying endocrine dysfunction. Puberty in Down syndrome is likely to be delayed due to high occurrence of thyroid dysfunction particularly hypothyroidism. Managing menstruation within this population is an area of controversy as many options negatively impact health however reduce distress and discomfmi for the individual and the carer. There is a paucity of research into this field and a large propmiion of studies carried out have weak methodological quality and use small sample sizes reducing the generalizability. Background: Growth retardation, low bone mass, osteopenia and bone dysmorphologies have all been identified as clinical features of Rett syndrome, suggesting the presence of an underlying neuroendocrine disorder. Research into Down syndrome has reported high incidences of comorbidities particularly thyroid dysfunction. Theses findings into Rett syndrome and Down syndrome suggests that pubertal trajectory and other aspects of puberty may be abnormal for these populations. The aim of this study was to determine the pubertal trajectory and methods of menstrual management in females with Rett syndrome and Down syndrome. Methods This research used data from two sets of surveys. The Rett syndrome component of the study was based on six waves of longitudinal data (1996, 2000, 2002, 2004, 2006 and 2009) collected through the Australian Rett Syndrome Surveys. The Down syndrome data for the current study was based on information collected in the Down Syndrome Needs Opinions and Wishes (NOW) questionnaire 2004. Survival analysis was used in determining the pubetial trajectory using the Kaplan Meier method and life tables to calculate survivor estimates. The relationship of genotype and Body mass index on pubetial trajectory was analysed using Cox Proportional Hazards Method. The menstrual management component of the study was analysed using descriptive statistics and regression. Results In Rett syndrome the median age to reach Tanners stage two was 11 years, and the median age of menarche was 14years. The duration between the two milestones was greatest in individuals who reached Tanners stage two earliest. Body mass index and genotype were found to have an impact, with high BMI resulting in earlier onsets. In Down syndrome the median age to the first sign of pubetiy and menarche was 12 years of age. In Rett syndrome and Down syndrome the most commonly used suppressant was the oral contraceptive pill. The most frequently experienced issues were increased seizure activity in Rett syndrome and difficulty understanding in Down. Discussion Pubertal trajectory in Rett syndrome was delayed compared to that of the normative population, In Down syndrome the trajectory was very similar to that of the normative population. The use of menstrual suppressants was much greater in females with Rett syndrome and Down syndrome than in the normative population, this is a concern due to the serious health concerns associated with the use of suppressants

Twisted Tales: Insights into Genome Diversity of Ciliates Using Single-Cell 'Omics.

The emergence of robust single-cell 'omics techniques enables studies of uncultivable species, allowing for the (re)discovery of diverse genomic features. In this study, we combine single-cell genomics and transcriptomics to explore genome evolution in ciliates (a > 1 Gy old clade). Analysis of the data resulting from these single-cell 'omics approaches show: 1) the description of the ciliates in the class Karyorelictea as "primitive" is inaccurate because their somatic macronuclei contain loci of varying copy number (i.e., they have been processed by genome rearrangements from the zygotic nucleus); 2) gene-sized somatic chromosomes exist in the class Litostomatea, consistent with Balbiani's (1890) observation of giant chromosomes in this lineage; and 3) gene scrambling exists in the underexplored Postciliodesmatophora (the classes Heterotrichea and Karyorelictea, abbreviated here as the Po-clade), one of two major clades of ciliates. Together these data highlight the complex evolutionary patterns underlying germline genome architectures in ciliates and provide a basis for further exploration of principles of genome evolution in diverse microbial lineages

Novel defense by honeybees against mass attack by giant wasps

Trabalho final de mestrado integrado em Medicina (Pediatria), apresentado á Faculdade de Medicina da Universidade de CoimbraIntrodução: A perturbação do espectro do autismo (PEA) é uma patologia complexa do neurodesenvolvimento, muito prevalente, que surge precocemente na infância. Refere-se a uma disfunção neurológica, que clinicamente se manifesta por atraso ou desvio nas aquisições do neurodesenvolvimento e alterações do comportamento. A PEA caracteriza-se por défice na comunicação e interação social e por um padrão de comportamento repetitivo e limitado nos interesses. O recurso à farmacoterapia justifica-se quando existem comportamentos disruptivos, que interferem negativamente no sucesso educativo e na qualidade de vida das crianças e suas famílias. A risperidona foi o primeiro antipsicótico autorizado na PEA e é o mais vezes prescrito. Embora sendo um fármaco seguro e eficaz, preocupações relacionadas com o seu efeito no aumento do peso e distribuição anómala da gordura e a sua interferência no metabolismo da glicose com aumento do nível de hemoglobina glicada A1c (HbA1c) têm emergido, sobretudo durante o crescimento e o processo evolutivo do neurodesenvolvimento. Objetivos: Caracterizar o efeito da risperidona no aumento do peso e distribuição da gordura e nos níveis de HbA1c. Métodos: Procedeu-se um estudo prospetivo de um grupo de 39 crianças e jovens com uma idade que variou entre os 3 a 21,5 anos (média ± DP, 9 ± 4,2) (trinta do sexo masculino (30/39; 77 %) com o diagnóstico de autismo e indicação para tratamento com risperidona por comportamentos disruptivos com significado clínico. A caracterização dos efeitos adversos, através da avaliação do índice de massa corporal, perímetro abdominal e HbA1c, foi realizada no tempo 0 (sem terapêutica) e nos tempos 1, 3, 6 e 12 meses de terapêutica. Resultados: A risperidona associa-se a uma elevação significativa e mantida dos valores de índice de massa corporal e perímetro abdominal, ao longo do tratamento. No entanto, não se verificou um aumento significativo nos níveis de HbA1cBackground: Autism spectrum disorder (ASD) is a complex neurodevelopment disorder, very prevalent, that appears very early in childhood. It is a neurological dysfunction, clinically manifested by a delay or a deviation in neurodevelopment acquisitions and changes in behaviour. ASD is characterized by difficulties in social interaction, limiting on verbal and nonverbal communication and rigid behaviour with repetitive and limited interests. The use of pharmacotherapy is justified when there are disruptive behaviours that negatively interfere with the successful education and quality of life of children and their families. Risperidone is the first antipsychotic authorized in ASD and more often prescribed. Although apparently safe and effective, concerns about its effects on the weight distribution and HbA1c levels have emerged, especially during growth and the evolutionary process of neurodevelopment. Objective: Analyze the impact on weight gain, adipose tissue distribution and HbA1c levels in patients medicated with risperidone. Methods: 39 patients, children and adolescents 3 to 21.5 years old (mean ± SD, 9 ± 4.2) and female/male ratio of 3/10, with previous diagnosis of autism and indication for treatment with risperidone for significant disruptive behaviour were evaluated at time 0 (no treatment) and on 1, 3, 6 and 12 months of therapy, using body mass index (BMI), waist circumference and HbA1c levels. Results: Risperidone was associated with a significant and sustained elevation of BMI values and waist circumference throughout the treatment. However, there was not a significant increase in HbA1c

Barriers to accessing maternal health care amongst pregnant adolescents in South Africa: a qualitative study

This study explores the barriers to accessing antenatal care (ANC) services amongst pregnant adolescents within a particular community of South Africa. Methods: An exploratory qualitative design was applied to examine the views of pregnant adolescents. In-depth interviews were conducted with pregnant adolescents at the Mitchells Plain Midwifery Obstetric Unit, as well as nursing staff working at the facility. Thematic analysis was then used and analysis was framed using the social–ecological model for health-seeking behaviour. Results: This study found that barriers to adolescents seeking ANC often centered on a discourse of adolescent pregnancy being deviant, irresponsible, and shameful. Pregnant adolescents often absorbed these beliefs and were fearful of other’s reaction within their family, the community, at school, and within the ANC facilities. Conclusions: Stigma regarding adolescent pregnancy participates in the perpetuation of a culture of non-disclosure and shame, which stands in the way of young pregnant people seeking the care they require. Such beliefs and attitudes need to be challenged at a community and national level

Twisted Tales: Insights into Genome Diversity of Ciliates Using Single-Cell ‘Omics

The emergence of robust single-cell ‘omics techniques enables studies of uncultivable species, allowing for the (re)discovery of diverse genomic features. In this study, we combine single-cell genomics and transcriptomics to explore genome evolution in ciliates (a \u3e 1 Gy old clade). Analysis of the data resulting from these single-cell ‘omics approaches show: 1) the description of the ciliates in the class Karyorelictea as “primitive”is inaccurate because their somatic macronuclei contain loci of varying copy number (i.e., they have been processed by genome rearrangements from the zygotic nucleus); 2) gene-sized somatic chromosomes exist in the class Litostomatea, consistent with Balbiani’s (1890) observation of giant chromosomes in this lineage; and 3) gene scrambling exists in the underexplored Postciliodesmatophora (the classes Heterotrichea and Karyorelictea, abbreviated here as the Po-clade), one of two major clades of ciliates. Together these data highlight the complex evolutionary patterns underlying germline genome architectures in ciliates and provide a basis for further exploration of principles of genome evolution in diverse microbial lineages

Negation of protein-protein interactions: analysis and extraction

Sanchez Graillet O, Poesio M. Negation of protein-protein interactions: analysis and extraction. Bioinformatics. 2007;23(13):i424--i432.**Motivation**: Negative information about protein–protein interactions—from uncertainty about the occurrence of an interaction to knowledge that it did not occur—is often of great use to biologists and could lead to important discoveries. Yet, to our knowledge, no proposals focusing on extracting such information have been proposed in the text mining literature. **Results**: In this work, we present an analysis of the types of negative information that is reported, and a heuristic-based system using a full dependency parser to extract such information. We performed a preliminary evaluation study that shows encouraging results of our system. Finally, we have obtained an initial corpus of negative protein–protein interactions as basis for the construction of larger ones. **Availability**:The corpus is available by request from the authors

Medical Repatriation in Vermont: The Current Landscape and Recommendations

Background: Medical repatriation is the practice of returning patients to their country of origin when they have major medical problems. Forced repatriation, or “medical deportation”, disproportionately affects undocumented individuals. This project aimed to assess the prevalence of medical repatriation in Vermont, identity factors that lead to it, and recommendations to prevent it. Methods: Interviews were conducted with ten stakeholders including physicians, lawmakers, and advocates for undocumented patients. Team members then analyzed interview transcripts for major themes. Results: This study did not uncover any occurrences of forced repatriation. Qualitative themes included: lack of awareness about medical repatriation, inability to track medical repatriation, social/legal barriers to care among undocumented individuals, and suggestions to prevent medical repatriation. This work also revealed current legislative initiatives focused on healthcare for undocumented individuals. Conclusion: Medical repatriation is not prevalent in Vermont. However, the increasing number of Vermonters with varying legal statuses in conjunction with rising hospital costs may precipitate economic stressors that put vulnerable patients at higher risk for forced repatriation. Moving forward, efforts may focus on protecting against this event with more inclusive health care coverage and improved clinician awareness about available assistance programs

SUPPORT for ME Needs Assessment Summary.

Maine Department of Health and Human Services contracted with the Catherine Cutler Institute at the University of Southern Maine to conduct a baseline needs assessment. The overall goal was to better understand the current capacity to address substance use in Maine; find barriers to receiving and utilizing SUD treatment and recovery services; and identify any gaps in SUD-related services in the state. The Cutler team conducted interviews, surveys, community listening sessions and focus groups with healthcare key informants (leadership from health systems, residential care, recovery housing, behavioral health agencies), providers (medical, behavioral health, first responders, residential treatment, law enforcement, opioid treatment), youth ages 12-21, and community members across Maine. The team also analyzed health claims data to identify how common substance misuse is among MaineCare (Medicaid) members and what types of substance use disorder (SUD) treatment and support services MaineCare members use. For more information, please contact the principal investigator, M. Lindsey Smith, PhD, at [email protected]

Who Owns the Data? Open Data for Healthcare.

Research on large shared medical datasets and data-driven research are gaining fast momentum and provide major opportunities for improving health systems as well as individual care. Such open data can shed light on the causes of disease and effects of treatment, including adverse reactions side-effects of treatments, while also facilitating analyses tailored to an individual's characteristics, known as personalized or "stratified medicine." Developments, such as crowdsourcing, participatory surveillance, and individuals pledging to become "data donors" and the "quantified self" movement (where citizens share data through mobile device-connected technologies), have great potential to contribute to our knowledge of disease, improving diagnostics, and delivery of -healthcare and treatment. There is not only a great potential but also major concerns over privacy, confidentiality, and control of data about individuals once it is shared. Issues, such as user trust, data privacy, transparency over the control of data ownership, and the implications of data analytics for personal privacy with potentially intrusive inferences, are becoming increasingly scrutinized at national and international levels. This can be seen in the recent backlash over the proposed implementation of care.data, which enables individuals' NHS data to be linked, retained, and shared for other uses, such as research and, more controversially, with businesses for commercial exploitation. By way of contrast, through increasing popularity of social media, GPS-enabled mobile apps and tracking/wearable devices, the IT industry and MedTech giants are pursuing new projects without clear public and policy discussion about ownership and responsibility for user-generated data. In the absence of transparent regulation, this paper addresses the opportunities of Big Data in healthcare together with issues of responsibility and accountability. It also aims to pave the way for public policy to support a balanced agenda that safeguards personal information while enabling the use of data to improve public health