Rubella in Poland in 2014

Science.gov (United States)

Paradowska-Stankiewicz, Iwona; Rogalska, Justyna; Polkowska, Aleksandra

2016-01-01

In 2004, Poland has adopted the WHO goal of rubella elimination and congenital rubella syndrome prevention. The main target of the Programme is to stop transmission of the virus in the environment and prevention of congenital rubella in children. In Poland participation in the rubella elimination program requires clinical diagnosis of rubella cases and their confirmation with laboratory tests. Vaccination against rubella was introduced in 1987, initially only in 13 - year-old girls. Since 2003, single jab vaccination against rubella, measles and mumps is used (MMR vaccine for all children: primary vaccination at the age 13-15 months and a booster vaccination at the age of 10). To assess epidemiological situation of rubella in Poland in 2014, including vaccination coverage in Polish population. The descriptive analysis was based on data retrieved from routine mandatory surveillance system and published in the annual bulletins “Infectious diseases and poisonings in Poland in 2014” and “Vaccinations in Poland in 2014” (MP. Czarkowski, Warszawa 2014, NIZP-PZH, GIS). In 2014, there was a significant decrease in the number of rubella cases - with registered 5891 cases (in 2013 - 38 548 cases) - and a decline in incidence (from 101.1 per 100 000 to 15.3). The highest incidence, regardless of gender and the environment was observed in the age group 5-6 years (respectively 93.8 and 109.4 per 100 000). Similarly to 2013, rubella incidence of males was higher than the incidence in girls and women (20.0 versus 10.9). In 2014, no cases of congenital rubella syndrome were registered. The proportion of laboratory tests confirming/excluding rubella infection is still very low in Poland. In 2014, only 0.6% of rubella cases were laboratory confirmed.

Congenital rubella syndrome and delayed manifestations

DEFF Research Database (Denmark)

Dammeyer, Jesper Herup

2010-01-01

Objective: Several hypotheses of different medical and psychological delayed manifestations among people who have congenital rubella syndrome (CRS) have been discussed. This study tests some of these hypotheses of delayed manifestations. Methods: Gathering information about 35 individuals who hav...... which people with CRS face must primarily be understood in relation to congenital deafblindness and dual sensory and communicative deprivation....... CRS and who are congenitally deafblind. Results: None of the hypotheses could be confirmed when individuals with CRS were compared to a control group of individuals who were congenital deafblind with different aetiology than CRS. Conclusions: This study concludes that those health related problems...

134 original article prevalence of rubella virus-specific ...

African Journals Online (AJOL)

boaz

ABSTRACT. Background: Rubella is a self-limiting disease that causes congenital rubella syndrome (CRS) when rubella virus (RV) infects women in the first trimester of pregnancy. Objective: To assess a population of pregnant women attending antenatal clinics in two tertiary hospitals in southwestern. Nigeria for anti-RV ...

Congenital rubella syndrome surveillance as a platform for surveillance of other congenital infections, Peru, 2004-2007.

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Whittembury, Alvaro; Galdos, Jorge; Lugo, María; Suárez-Ognio, Luis; Ortiz, Ana; Cabezudo, Edwin; Martínez, Mario; Castillo-Solórzano, Carlos; Andrus, Jon Kim

2011-09-01

Rubella during pregnancy can cause serious fetal abnormalities and death. Peru has had integrated measles/rubella surveillance since 2000 but did not implement congenital rubella syndrome (CRS) surveillance until 2004, in accordance with the Pan American Health Organization recommendations for rubella elimination. The article describes the experience from the CRS sentinel surveillance system in Peru. Peru has maintained a national sentinel surveillance system for reporting confirmed and suspected CRS cases since 2004. A surveillance protocol was implemented with standardized case definitions and instruments in the selected sentinel sites. Each sentinel site completes their case investigations and report forms and sends the reports to the Health Region Epidemiology Department, which forwards the data to the national Epidemiology Department. CRS surveillance data were analyzed for the period 2004-2007. During the period 2004-2007, 16 health facilities, which are located in 9 of the 33 health regions, representing the 3 main geographical areas (coast, mountain, and jungle), were included as sentinel sites for the CRS surveillance. A total of 2061 suspected CRS cases were reported to the system. Of these, 11 were classified as CRS and 23 as congenital rubella infection. Factors significantly associated with rubella vertical transmission were: (1) in the mother, maternal history of rash during pregnancy (odds ratio [OR], 12.0; 95% confidence interval [CI], 3.8-37.8); (2) and in the infant, pigmentary retinopathy (OR, 18.4; 95% CI, 3.2-104.6), purpura (OR, 14.7; 95% CI, 2.8-78.3), and developmental delay (OR, 4.4; 95% CI, 1.75-11.1). The surveillance system has been able to identify rubella vertical transmission, reinforcing the evidence that rubella was a public health problem in Peru. This system may serve as a platform to implement surveillance for other congenital infections in Peru.

Systemic Comorbidity in Children with Cataracts in Nigeria: Advocacy for Rubella Immunization

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Roseline Duke

2015-01-01

Full Text Available Background. Congenital and developmental cataracts are leading causes of childhood blindness and severe visual impairment. They may be associated with systemic diseases including congenital heart diseases which are among the major causes of morbidity and mortality in childhood. The pattern of systemic comorbidities seen in children diagnosed with cataract in Calabar, Nigeria, was studied. Methods. A retrospective review was conducted on the children who had cataract surgery between 2011 and 2012. Diagnosis of the systemic condition was documented. Results. A total of 66 children were recruited for the study. Cardiac disease was seen in 26 children (39.9%, followed by delayed milestone in 16 (24.2%, intellectual disability in 14 (21.2%, deafness in 11 (16.7%, epilepsy in 4 (6.1%, and physical handicap in 3 (4.5% of them. Clinically confirmed Congenital Rubella Syndrome was seen in 30 (45% of the children. The pattern of CHD seen was as follows: patent ductus arteriosus in 16 (24.2% followed by ventricular-septal defect in 5 (7.6%, atrial-septal defect in 3 (4.5%, and pulmonary stenosis in 2 (3%. Conclusion. Systemic comorbidities, especially cardiac anomalies, are common among children with cataract in Nigeria. Congenital Rubella Syndrome may be a prominent cause of childhood cataract in our environment. Routine immunization of school girls against rubella is advocated as a measure to mitigate this trend.

Health economics of rubella: a systematic review to assess the value of rubella vaccination.

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Babigumira, Joseph B; Morgan, Ian; Levin, Ann

2013-04-29

Most cases of rubella and congenital rubella syndrome (CRS) occur in low- and middle-income countries. The World Health Organization (WHO) has recently recommended that countries accelerate the uptake of rubella vaccination and the GAVI Alliance is now supporting large scale measles-rubella vaccination campaigns. We performed a review of health economic evaluations of rubella and CRS to identify gaps in the evidence base and suggest possible areas of future research to support the planned global expansion of rubella vaccination and efforts towards potential rubella elimination and eradication. We performed a systematic search of on-line databases and identified articles published between 1970 and 2012 on costs of rubella and CRS treatment and the costs, cost-effectiveness or cost-benefit of rubella vaccination. We reviewed the studies and categorized them by the income level of the countries in which they were performed, study design, and research question answered. We analyzed their methodology, data sources, and other details. We used these data to identify gaps in the evidence and to suggest possible future areas of scientific study. We identified 27 studies: 11 cost analyses, 11 cost-benefit analyses, 4 cost-effectiveness analyses, and 1 cost-utility analysis. Of these, 20 studies were conducted in high-income countries, 5 in upper-middle income countries and two in lower-middle income countries. We did not find any studies conducted in low-income countries. CRS was estimated to cost (in 2012 US$) between $4,200 and $57,000 per case annually in middle-income countries and up to $140,000 over a lifetime in high-income countries. Rubella vaccination programs, including the vaccination of health workers, children, and women had favorable cost-effectiveness, cost-utility, or cost-benefit ratios in high- and middle-income countries. Treatment of CRS is costly and rubella vaccination programs are highly cost-effective. However, in order for research to support the

Introduction of rubella-containing-vaccine to Madagascar: implications for roll-out and local elimination.

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Wesolowski, Amy; Mensah, Keitly; Brook, Cara E; Andrianjafimasy, Miora; Winter, Amy; Buckee, Caroline O; Razafindratsimandresy, Richter; Tatem, Andrew J; Heraud, Jean-Michel; Metcalf, C Jessica E

2016-04-01

Few countries in Africa currently include rubella-containing vaccination (RCV) in their immunization schedule. The Global Alliance for Vaccines Initiative (GAVI) recently opened a funding window that has motivated more widespread roll-out of RCV. As countries plan RCV introductions, an understanding of the existing burden, spatial patterns of vaccine coverage, and the impact of patterns of local extinction and reintroduction for rubella will be critical to developing effective programmes. As one of the first countries proposing RCV introduction in part with GAVI funding, Madagascar provides a powerful and timely case study. We analyse serological data from measles surveillance systems to characterize the epidemiology of rubella in Madagascar. Combining these results with data on measles vaccination delivery, we develop an age-structured model to simulate rubella vaccination scenarios and evaluate the dynamics of rubella and the burden of congenital rubella syndrome (CRS) across Madagascar. We additionally evaluate the drivers of spatial heterogeneity in age of infection to identify focal locations where vaccine surveillance should be strengthened and where challenges to successful vaccination introduction are expected. Our analyses indicate that characteristics of rubella in Madagascar are in line with global observations, with an average age of infection near 7 years, and an impact of frequent local extinction with reintroductions causing localized epidemics. Modelling results indicate that introduction of RCV into the routine programme alone may initially decrease rubella incidence but then result in cumulative increases in the burden of CRS in some regions (and transient increases in this burden in many regions). Deployment of RCV with regular supplementary campaigns will mitigate these outcomes. Results suggest that introduction of RCV offers a potential for elimination of rubella in Madagascar, but also emphasize both that targeted vaccination is likely to be

Updating Standard Procedures for Diagnosis and Treatment of Congenital Rubella Case

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W. Buffolano

2013-06-01

Full Text Available Congenital Rubella is the dramatic consequence of rubella during gestation. A combined strategy of Measles and Rubella universal vaccination on children and selective vaccination of susceptible women has been shown effective in the elimination of congenital rubella requiring an incidence of <1 case of CRS per 100,000 live births. Verification processes of rubella elimination require that physicians early and appropriately diagnose all cases of congenital rubella, including those unpatent at birth. The paper highlights clinical and laboratory aspects channeling diagnosis of congenital rubella infection or syndrome even after the first year of life, and the short- and long-term management criteria.

An outbreak investigation of congenital rubella syndrome in Solomon Islands, 2013

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Kara N Durski

2016-02-01

Full Text Available Introduction: During May 2012, a rubella outbreak was declared in Solomon Islands. A suspected case of congenital rubella syndrome (CRS was reported from one hospital 11 months later in 2013. This report describes the subsequent CRS investigation, findings and measures implemented. Methods: Prospective CRS surveillance was conducted at the newborn nursery, paediatric and post-natal wards, and the paediatric cardiology and ophthalmology clinics of the study hospital from April to July 2013. Retrospective case finding by reviewing medical records was also undertaken to identify additional cases born between January and March 2013 for the same wards and clinics. Cases were identified using established World Health Organization case definitions for CRS. Results: A total of 13 CRS cases were identified, including two laboratory-confirmed, four clinically confirmed and seven suspected cases. Five CRS cases were retrospectively identified, including four suspected and one clinically confirmed case. There was no geospatial clustering of residences. The mothers of the cases were aged between 20 and 36 years. Three of the six mothers available for interview recalled an acute illness with rash during the first trimester of pregnancy. Discussion: Additional CRS cases not captured in this investigation are likely. Caring for CRS cases is a challenge in resource-poor settings. Rubella vaccination is safe and effective and can prevent the serious consequences of CRS. Well-planned and funded vaccination activities can prevent future CRS cases.

ORIGINAL ARTICLE RUBELLA IgG ANTIBODY AMONG NIGERIAN ...

African Journals Online (AJOL)

boaz

capable of causing a spectrum of birth defects described as congenital rubella syndrome (CRS). Despite the availability of safe and effective ... designed to determine the prevalence of anti- rubella IgG among pregnant women in order to ..... Vyse A.J., Gay N.J., White J.M., Ramsay. M.E., Brown D.W., Cohen B.J. Evolution.

Seroprevalence of rubella antibodies and determinants of susceptibility to rubella in a cohort of pregnant women in Canada, 2008-2011.

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Gilbert, Nicolas L; Rotondo, Jenny; Shapiro, Janna; Sherrard, Lindsey; Fraser, William D; Ward, Brian J

2017-05-25

Long term control of rubella and congenital rubella syndrome relies on high population-level immunity against rubella, particularly among women of childbearing age. In Canada, all pregnant women should be screened so that susceptible new mothers can be offered vaccination for rubella before discharge. This study was undertaken to estimate rubella susceptibility in a cohort of pregnant women in Canada and to identify associated socio-economic and demographic factors. Biobanked plasma samples were obtained from the Maternal-Infant Research on Environmental Chemicals (MIREC) study, in which pregnant women were recruited between 2008 and 2011. Socio-demographic characteristics and obstetric histories were collected. Second trimester plasma samples (n=1,752) were tested for rubella-specific IgG using an in-house enzyme-linked immunosorbent assay. The percentage of women with IgG titers Canada (aOR 2.60, 95% CI 1.07-6.31). In conclusion, a large majority of pregnant women were found to be immune to rubella. Further research is needed to understand inequalities in vaccine uptake or access, and more effort is needed to promote catch-up measles-mumps-rubella vaccination among socioeconomically disadvantaged and immigrant women of childbearing age. Crown Copyright © 2017. Published by Elsevier Ltd. All rights reserved.

Seroprevalence of rubella in school girls and pregnant women.

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Karakoc, Gulbin Bingol; Altintas, Derya Ufuk; Kilinc, Banu; Karabay, Aysun; Mungan, Neslihan Onenli; Yilmaz, Mustafa; Evliyaoglu, Nurdan

2003-01-01

Many studies have been assigned to investigate the surveillance of congenital rubella syndrome, acquired rubella and seroprevalence in different countries to determine the new vaccination program and national vaccination schedules. Seroprevalence of rubella in Turkey is still insufficient and national immunization schedules do not include routine rubella vaccination. In this study we aimed to investigate the seroprevalence of rubella at child bearing age in an unvaccinated population in Adana, southern Turkey, to help determine whether routine rubella vaccination is necessary, if so when it should be administered. Ninety-four school girls aged 12-18 years living in Adana were selected for the study and stratified according to the socioeconomic status of their parents and evaluated for rubella antibodies. One hundred pregnant women aged 18-25 years and 100 pregnant women aged 26-35 years were sampled rubella antibodies. Rubella specific IgG antibody was measured qualitatively and quantitatively by using microparticule enzyme immune assay technology. Rubella specific IgG antibody was positive in 87-94 school girls (92.5%). The geometric mean rubella specific IgG antibody value was found be 148.14 IU/ml. No correlation was found between socioeconomic status and rubella seropositivity (p = 0.6521). In all pregnant women rubella specific IgG antibody was found to be positive. In conclusion rubella vaccination should be considered carefully in developing countries. Because of the high seropositivity to rubella in our region we do not recommend rubella vaccination in early childhood. Yet this is a preliminary study and further studies with larger population size are needed to determine the national immunization policy for rubella.

Rubella and congenital rubella syndrome: global update La rubéola y el síndrome de rubéola congénita: resumen de la situación actual en el mundo

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Susan E. Robertson

2003-11-01

Full Text Available Worldwide, it is estimated that there are more than 100 000 infants born with congenital rubella syndrome (CRS each year. In 1998, standard case definitions for surveillance of CRS and rubella were developed by the World Health Organization (WHO. In 2001, 123 countries/territories reported a total of 836 356 rubella cases. In the future more countries are expected to report on rubella as a global measles/rubella laboratory network is further developed under the coordination of the WHO. Operational research is being conducted to improve rubella surveillance. This includes projects on initiating CRS surveillance, comparative studies on diagnostic laboratory methods, and molecular epidemiology research to expand the global understanding of patterns of rubella virus circulation. In 1996 a WHO survey found that 78 of 214 reporting countries/territories (36% were using rubella vaccine in their routine immunization services. By the end of 2002 a total of 124 of the 214 counties/territories (58% were using rubella vaccine. Rubella vaccine use varies by stage of economic development: 100% for industrialized countries, 71% for countries with economies in transition, and 48% for developing countries. A safe and effective rubella vaccine is available, and there are proven vaccination strategies for preventing rubella and CRS. A WHO position paper provides guidance on programmatic aspects of rubella vaccine introduction. The introduction of rubella vaccine is cost-effective and cost-beneficial but requires ongoing strengthening of routine immunization services and surveillance systems.Se calcula que cada año nacen en el mundo más de 100 000 niños con síndrome de rubéola congénita (SRC. La Organización Mundial de la Salud (OMS estandarizó en 1998 las definiciones de casos para la vigilancia del SRC y de la rubéola. En 2001, 123 países o territorios notificaron 836 356 casos de rubéola y se espera que el número de países se incremente a medida que

Modeling the impact of rubella vaccination in Vietnam.

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Vynnycky, Emilia; Yoshida, Lay Myint; Huyen, Dang Thi Thanh; Trung, Nguyen Dac; Toda, Kohei; Cuong, Nguyen Van; Thi Hong, Duong; Ariyoshi, Koya; Miyakawa, Masami; Moriuchi, Hiroyuki; Tho, Le Huu; Nguyen, Hien Anh; Duc Anh, Dang; Jit, Mark; Hien, Nguyen Tran

2016-01-01

Supported by GAVI Alliance, measles-rubella vaccination was introduced in Vietnam in 2014, involving a mass campaign among 1-14 year olds and routine immunization of children aged 9 months. We explore the impact on the incidence of Congenital Rubella Syndrome (CRS) during 2013-2050 of this strategy and variants involving women aged 15-35 years. We use an age and sex-structured dynamic transmission model, set up using recently-collected seroprevalence data from Central Vietnam, and also consider different levels of transmission and contact patterns. If the serological profile resembles that in Central Vietnam, the planned vaccination strategy could potentially prevent 125,000 CRS cases by 2050 in Vietnam, despite outbreaks predicted in the meantime. Targeting the initial campaign at 15-35 year old women with or without children aged 9 months-14 years led to sustained reductions in incidence, unless levels of ongoing transmission were medium-high before vaccination started. Assumptions about contact greatly influenced predictions if the initial campaign just targeted 15-35 year old women and/or levels of ongoing transmission were medium-high. Given increased interest in rubella vaccination, resulting from GAVI Alliance funding, the findings are relevant for many countries.

Does rubella cause autism: a 2015 reappraisal?

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Jill eHutton

2016-02-01

Full Text Available In the 1970s, Stella Chess found a high prevalence of autism in children with congenital rubella syndrome (CRS, 200 times that of the general population at the time. Many researchers quote this fact to add proof to the current theory that maternal infection with immune system activation in pregnancy leads to autism in the offspring. This rubella and autism association is presented with the notion that rubella has been eliminated in today’s world. CRS cases are no longer typically seen, yet autistic children often share findings of CRS including deafness, congenital heart defects and to a lesser extent visual changes. Autistic children commonly have hyperactivity and spasticity, as do CRS children. Both autistic and CRS individuals may develop type 1 diabetes as young adults. Neuropathology of CRS infants may reveal cerebral vasculitis with narrowed lumens and cerebral necrosis. Neuroradiologic findings of children with CRS show calcifications, periventricular leukomalacia, and dilated perivascular spaces. Neuroradiology of autism has also demonstrated hyperintensities, leukomalacia and prominent perivascular spaces. PET studies of autistic individuals exhibit decreased perfusion to areas of the brain similarly affected by rubella. In both autism and CRS, certain changes in the brain have implicated the immune system. Several children with autism lack antibodies to rubella, as do children with CRS. These numerous similarities increase the probability of an association between rubella virus and autism.Rubella and autism cross many ethnicities in many countries. Contrary to current belief, rubella has not been eradicated and globally affects up to 5% of pregnant women. Susceptibility continues as vaccines are not given worldwide and are not fully protective. Rubella might still cause autism, even in vaccinated populations.

Does Rubella Cause Autism: A 2015 Reappraisal?

Science.gov (United States)

Hutton, Jill

2016-01-01

In the 1970s, Stella Chess found a high prevalence of autism in children with congenital rubella syndrome (CRS), 200 times that of the general population at the time. Many researchers quote this fact to add proof to the current theory that maternal infection with immune system activation in pregnancy leads to autism in the offspring. This rubella and autism association is presented with the notion that rubella has been eliminated in today's world. CRS cases are no longer typically seen; yet, autistic children often share findings of CRS including deafness, congenital heart defects, and to a lesser extent visual changes. Autistic children commonly have hyperactivity and spasticity, as do CRS children. Both autistic and CRS individuals may develop type 1 diabetes as young adults. Neuropathology of CRS infants may reveal cerebral vasculitis with narrowed lumens and cerebral necrosis. Neuroradiological findings of children with CRS show calcifications, periventricular leukomalacia, and dilated perivascular spaces. Neuroradiology of autism has also demonstrated hyperintensities, leukomalacia, and prominent perivascular spaces. PET studies of autistic individuals exhibit decreased perfusion to areas of the brain similarly affected by rubella. In both autism and CRS, certain changes in the brain have implicated the immune system. Several children with autism lack antibodies to rubella, as do children with CRS. These numerous similarities increase the probability of an association between rubella virus and autism. Rubella and autism cross many ethnicities in many countries. Contrary to current belief, rubella has not been eradicated and globally affects up to 5% of pregnant women. Susceptibility continues as vaccines are not given worldwide and are not fully protective. Rubella might still cause autism, even in vaccinated populations.

Prevalence of rubella-specific IgG antibodies in unimmunized young female population

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Jayakrishnan Thayyil

2016-01-01

Full Text Available Context: Rubella is a mild self-limiting disease all over the world; nevertheless, it is of significant public health importance due to its teratogenic effect of congenital rubella syndrome. Rubella vaccine is currently not included in the national immunization program in India. Rubella-specific IgG in the unvaccinated population is a marker of previous rubella infection. Rubella IgG estimation in children will provide data for initiation and necessary modification to the immunization strategy. Aims: In this background, this study was conducted with an aim to know the age-specific susceptibility of acquiring rubella infections and future risk of congenital rubella syndrome (CRS among girls. Settings and Design: This was a community-based, observational study. Participants and Methods: The study was conducted at a randomly selected rural area Mavoor Panchayath of Kozhikode District, Kerala, among adolescent girls. The estimation of rubella-specific IgG antibody was done by quantitative enzyme-linked immunosorbent assay method. IgG titer value of >15 IU was taken positive, 8-15 IU as equivocal, and <8 IU as negative. Statistical Analysis Used: Statistical analysis was performed using Statistical program for Social science version 16 for Windows. Chi-square test was applied to find out significant difference and Fisher′s exact test wherever applicable. Results: The data and blood sample collection was done from 250 girls. The mean IgG titer was 151.93 ± 128.78 IU, and as per the criteria, 68.3% were positive, 28.5% were negative, and 3.2% were equivocal. At this age, majority (68.3% of the girls get protection by natural infection without any vaccine. Some girls (32% may remain susceptible to infection during adulthood and pregnancy. Conclusions: Natural rubella infection was widely prevalent among child population and at this age. An immunization policy recommending rubella-containing vaccine is highly desirable to prevent rubella and CRS.

Prevalence of Rubella Antibodies Among Children in the Democratic Republic of the Congo.

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Alfonso, Vivian H; Doshi, Reena H; Mukadi, Patrick; Higgins, Stephen G; Hoff, Nicole A; Bwaka, Ado; Mwamba, Guillaume Ngoie; Okitolonda, Emile; Muyembe, Jean-Jacques; Gerber, Sue; Rimoin, Anne W

2018-01-01

While generally mild in children, rubella infection in early pregnancy can lead to miscarriage, fetal death or congenital rubella syndrome. Rubella vaccination is not yet available as a part of routine immunization in the Democratic Republic of the Congo (DRC), and the burden of infection is unknown. In collaboration with the 2013-2014 DRC Demographic and Health Survey, a serosurvey was carried out to assess population immunity to vaccine-preventable diseases. Dry blood spot samples collected from children 6-59 months of age were processed using the Dynex Technologies Multiplier FLEX chemiluminescent immunoassay platform (Dynex Technologies, Chantilly, VA). Among the 7195 6- to 59-month-old children, 33% were positive and <1% indeterminate for rubella antibodies in weighted analyses. Seroprevalence was positively associated with age of the child and province, with seropositivity highest in Bandundu (53%) and lowest in Kasai-Oriental (20%). In multivariate analyses, serologic evidence of infection was associated with age of the mother and child, socioeconomic status and geographic location. Rubella infection is prevalent among children in the DRC, and while most seroconversion occurs in young children, a significant proportion of children remain at risk and may enter reproductive age susceptible to rubella infection. While not currently in place, implementation of a surveillance program will provide improved estimates of both rubella virus circulation and the burden of congenital rubella syndrome. Such information will play an important role in future policy decisions, vaccine delivery strategies and may provide a basis upon which the effectiveness of rubella antigen introduction may be assessed.

Rubella seroprevalence among pregnant women in Beijing, China.

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Meng, Qinghong; Luo, Jie; Li, Lijun; Shi, Wei; Yu, Jinqian; Shen, Yingjie; Li, Li; Wang, Yajuan; Yao, Kaihu

2018-03-15

Rubella infection in pregnant women can result in serious effects, such as miscarriages, stillbirths, and congenital rubella syndrome (CRS). However, very little is known about the rubella seroprevalence among pregnant women in China. This is a cross-sectional and hospital-based study. From June 2016 through March 2017, a total of 324 serum samples from healthy pregnant women were collected in the Shunyi Women and Children's Hospital of Beijing Children's Hospital. Rubella-specific IgG antibody was determined by ELISA (Euroimmun, Lübeck, Germany) kits. International assigned cut-off values of ≥10 IU/ml were used to assess the percentage of pregnant women with protective IgG concentrations. The total rate of protected individuals was 83.3% (95% CI: 78.9%-87.0%). The protective rates of pregnant women in 17-26 years group, 27-36 years group and 37-46 years group were 84.0% (95% CI: 75.3%-90.1%), 81.9% (95% CI: 74.9%-87.4%) and 84.9% (95% CI: 75.8%-90.9%) respectively. No significant difference in protective rates among the three age groups was found (P = 0.83). There were also no statistically significant correlations between protective rates and gravidity (P = 0.84), parity (P = 0.84), birth place (P = 0.16), residence area (P = 0.58), education (P = 0.40) or occupation (P = 0.65). Despite the generally low vaccination coverage for rubella, most of Chinese pregnant women had potent rubella immunity. However, at least 16.7% of pregnant women were susceptible to rubella, which suggested rubella immunization in Chinese women at or before child-bearing age.

Insights from epidemiological game theory into gender-specific vaccination against rubella.

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Shim, Eunha; Kochin, Beth; Galvani, Alison

2009-10-01

Rubella is a highly contagious childhood disease that causes relatively mild symptoms. However, rubella can result in severe congenital defects, known as congenital rubella syndrome (CRS), if transmitted from a mother to a fetus. Consequently, women have higher incentive to vaccinate against rubella than men do. Within the population vaccination reduces transmission but also increases the average age of infection and possibly the risk of CRS among unvaccinated females. To evaluate how the balance among these factors results in optimal coverage of vaccination, we developed a game theoretic age-structured epidemiological model of rubella transmission and vaccination. We found that high levels of vaccination for both genders are most effective in maximizing average utility across the population by decreasing the risk of CRS and reducing transmission of rubella. By contrast, the demands for vaccines driven by self-interest among males and females are 0% and 100% acceptance, respectively, if the cost of vaccination is relatively low. Our results suggest that the rubella vaccination by males that is likely to be achieved on voluntary basis without additional incentives would have been far lower than the population optimum, if rubella vaccine were offered separately instead of combined with measles and mumps vaccination as the MMR vaccine.

Balancing evidence and uncertainty when considering rubella vaccine introduction.

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Justin Lessler

Full Text Available Despite a safe and effective vaccine, rubella vaccination programs with inadequate coverage can raise the average age of rubella infection; thereby increasing rubella cases among pregnant women and the resulting congenital rubella syndrome (CRS in their newborns. The vaccination coverage necessary to reduce CRS depends on the birthrate in a country and the reproductive number, R0, a measure of how efficiently a disease transmits. While the birthrate within a country can be known with some accuracy, R0 varies between settings and can be difficult to measure. Here we aim to provide guidance on the safe introduction of rubella vaccine into countries in the face of substantial uncertainty in R0.We estimated the distribution of R0 in African countries based on the age distribution of rubella infection using Bayesian hierarchical models. We developed an age specific model of rubella transmission to predict the level of R0 that would result in an increase in CRS burden for specific birth rates and coverage levels. Combining these results, we summarize the safety of introducing rubella vaccine across demographic and coverage contexts.The median R0 of rubella in the African region is 5.2, with 90% of countries expected to have an R0 between 4.0 and 6.7. Overall, we predict that countries maintaining routine vaccination coverage of 80% or higher are can be confident in seeing a reduction in CRS over a 30 year time horizon.Under realistic assumptions about human contact, our results suggest that even in low birth rate settings high vaccine coverage must be maintained to avoid an increase in CRS. These results lend further support to the WHO recommendation that countries reach 80% coverage for measles vaccine before introducing rubella vaccination, and highlight the importance of maintaining high levels of vaccination coverage once the vaccine is introduced.

Balancing evidence and uncertainty when considering rubella vaccine introduction.

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Lessler, Justin; Metcalf, C Jessica E

2013-01-01

Despite a safe and effective vaccine, rubella vaccination programs with inadequate coverage can raise the average age of rubella infection; thereby increasing rubella cases among pregnant women and the resulting congenital rubella syndrome (CRS) in their newborns. The vaccination coverage necessary to reduce CRS depends on the birthrate in a country and the reproductive number, R0, a measure of how efficiently a disease transmits. While the birthrate within a country can be known with some accuracy, R0 varies between settings and can be difficult to measure. Here we aim to provide guidance on the safe introduction of rubella vaccine into countries in the face of substantial uncertainty in R0. We estimated the distribution of R0 in African countries based on the age distribution of rubella infection using Bayesian hierarchical models. We developed an age specific model of rubella transmission to predict the level of R0 that would result in an increase in CRS burden for specific birth rates and coverage levels. Combining these results, we summarize the safety of introducing rubella vaccine across demographic and coverage contexts. The median R0 of rubella in the African region is 5.2, with 90% of countries expected to have an R0 between 4.0 and 6.7. Overall, we predict that countries maintaining routine vaccination coverage of 80% or higher are can be confident in seeing a reduction in CRS over a 30 year time horizon. Under realistic assumptions about human contact, our results suggest that even in low birth rate settings high vaccine coverage must be maintained to avoid an increase in CRS. These results lend further support to the WHO recommendation that countries reach 80% coverage for measles vaccine before introducing rubella vaccination, and highlight the importance of maintaining high levels of vaccination coverage once the vaccine is introduced.

Evaluation of Rubella Immunity in Women before Marriage and Pregnancy in Isfahan During 1997-2000

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T Allameh

2004-04-01

Full Text Available Background: Congenital Rubella syndrome is a public health problem in many developing countries which has not yet been sufficiently put into account. There is an urgent need for collecting appropriate data to estimate the cost-effectiveness of a potential global Rubella control program. This study was conducted to determine susceptibility to Rubella in women who are going to marry or consult for pregnancy. Methods: This study began in 1997 and ended in 2000. The study was analytic descriptive and prospective. Eight hundred and thirty eight women who referred for premarriage tests or counselling for conception were included. According to antibody levels, test results were reported as immune and non-immune (susceptible for every individual. Results: Among 838 cases, 253 women (30.1% were non-immune (susceptible and 585 women (69.9% were immune. The educational status of the two groups were recorded. Analysis of data showed that the higher the educational level (62.2% for University degree holder, the lower the immunity against Rubella would be (75.2% for unfinished high school individuals. Furthermore, immunity in the younger group was higher (73.9% in <20 years than in the older group(61% in >30 years. Conclusion: More than one third of pre marriage and pre conceptional women were non-immune (susceptible to Rubella, so health providers should be aware of Rubella prevention and control in childbearing age via screening and vaccination. Immunity against Rubella can vary over time and the socioeconomic status is believed to play an important role in the level of immunity. Keywords: Congenital Rubella Syndrome, Rubella immunity, Rubella non-immunity.

Rubella in Sub-Saharan Africa and sensorineural hearing loss: a case control study

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Cristina Caroça

2017-02-01

Full Text Available Abstract Background Rubella infection can affect several organs and cause birth defects that are responsible for congenital rubella syndrome (CRS. Congenital hearing loss is the most common symptom of this syndrome, occurring in approximately 60% of CRS cases. Worldwide, over 100 000 babies are born with CRS every year. There is no specific treatment for rubella, but the disease is preventable by vaccination. Since 1969, the rubella vaccine has been implemented in many countries, but in Africa, only a few countries routinely immunize against rubella. The aim of this study was to estimate the rate of infection from the wild-type rubella virus in São Tomé and Príncipe by determining rubella seroprevalence with a DBS method. The goal of this study was to reinforce the need for implementation of the rubella vaccine in this country. As secondary objectives, the validation of a DBS method was first attempted and an association between seroprevalence and hearing loss was assessed. Methods We collected samples from individuals observed during humanitarian missions in São Tomé and Príncipe. All individuals underwent an audiometric evaluation, and a drop of blood was collected for the dried blood spot (DBS. We define two groups: the case group (individuals with unilateral or bilateral hearing loss (HL and the control group (individuals with two normal ears. Patients were excluded if they suffered from conductive HL, if they showed evidence of possible causes of HL, if they had developmental delay or if they refused to participate in the study. Results Among the 315 subjects, we found 64.1% individuals with IgG for the rubella virus, 32.1% without immunity for the rubella virus and 3.8% who were borderline. In the control group, 62.6% were positive for the rubella IgG, whereas in the case group, 72% were positive. Analyzing both groups, with ages ranging from 2 to 14 years of age and from 15 to 35 years of age, we found a seroprevalence of 50.3% to

Case based rubella surveillance in Abia State, South East Nigeria, 2007-2011.

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Umeh, Chukwuemeka Anthony; Onyi, Stella Chioma

2014-01-01

Introduction. Rubella infection has the potential of causing severe fetal birth defects collectively called congenital rubella syndrome (CRS) if the mother is infected early in pregnancy. However, little is known about rubella and CRS epidemiology in Nigeria and rubella vaccines are still not part of routine childhood immunization in Nigeria. Methods. Analysis of confirmed cases of rubella in Abia State, Nigeria from 2007 to 2011 detected through Abia State Integrated Disease Surveillance and Response system. Results. Of the 757 febrile rash cases, 81(10.7%) tested positive for rubella immunoglobulin M (IgM). New rubella infection decreased from 6.81/1,000,000 population in 2007 to 2.28/1,000,000 in 2009 and increased to 6.34/1,000,000 in 2011. The relative risk of rubella was 1.5 (CI [0.98-2.28]) times as high in females compared to males and 1.6 times (CI [0.90-2.91]) as high in rural areas compared to urban areas. Eighty six percent of rubella infections occurred in children less than 15 years with a high proportion of cases occurring between 5 and 14 years. Conclusion. Rubella infection in Abia State, Nigeria is predominantly in those who are younger than 15 years old. It is also more prevalent in females and in those living in rural areas of the state. Unfortunately, there is no surveillance of CRS in Nigeria and so the public health impact of rubella infection in the state is not known. Efforts should be made to expand the rubella surveillance in Nigeria to incorporate surveillance for CRS.

Sero-Surveillance to assess immunity to rubella and assessment of immunogenicity and safety of a single dose of rubella vaccine in school girls

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Sharma Hitt

2010-01-01

Full Text Available Background: Rubella vaccination is not yet included in National Immunization Schedule in India. Serosurvey is frequently used to assess epidemiologic pattern of Rubella in a community. Serosurveys in different parts of India have found that 6-47% of women are susceptible for Rubella infection. The present serosurveillance was conducted in Jammu, India, in two public schools. Objective: To determine serological status of Rubella antibodies of school girls and assessment of immunogenicity and reactogenicity of Rubella immunization in seronegative girls. Materials and Methods: The current study was conducted to determine Rubella serostatus in peripubertal schoolgirls aged 11-18 years and also to assess immunogenicity and safety of Rubella vaccine (R-Vac of Serum Institute of India Ltd., Pune, in seronegative girls. For screening, pre-vaccination serum Rubella IgG antibodies were determined and to assess immunogenicity of the vaccine, post-vaccination IgG antibodies were compared with pre-vaccination levels. Safety assessment was done for a period of 8 weeks, post-vaccination. Results: A total of 90 (32.7% seronegative girls were vaccinated. All girls (100% became seropositive, post-vaccination. Clinically relevant and statistically significant increase in anti-Rubella IgG titres was observed. The adverse events were mild and self-limiting. Conclusions: R-Vac vaccine used in the study demonstrated an excellent safety and immunogenicity profile.

Evaluation of Rubella Immunity in Women before Marriage and Pregnancy in Isfahan During 1997-2000

OpenAIRE

T Allameh; M Kianpoor

2004-01-01

Background: Congenital Rubella syndrome is a public health problem in many developing countries which has not yet been sufficiently put into account. There is an urgent need for collecting appropriate data to estimate the cost-effectiveness of a potential global Rubella control program. This study was conducted to determine susceptibility to Rubella in women who are going to marry or consult for pregnancy. Methods: This study began in 1997 and ended in 2000. The study was analytic descriptive...

Characterization of rubella seronegative females in the Zambian blood donor community

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Mazyanga Lucy Mazaba

2015-04-01

Full Text Available Rubella is an acute, contagious viral infection caused by a teratogenic enveloped single-stranded RNA virus, rubella virus, a member of the togaviridae family. Though causing generally mild infections in children and adults, it is a disease of public health importance in pregnant women causing major problems including abortions, miscarriages and Congenital Rubella Syndrome in more than twenty per cent of the susceptible population. This study was carried out to determine the characteristics associated with rubella seronegativity amongst female blood donors in Zambia. Rubella-specific IgG antibody levels were measured in the blood serum. Proportions were compared using the Chi-squared test at the 5% significance level, and magnitudes of associations were determined using the odds ratio and its 95% confidence interval. Of the 124 female blood donors tested for rubella IgG 46.0% were aged less than 20 years. Overall, 66.7% of the participants had never been married. More than half (62.1% of the participants resided in rural areas of the country. Of the 114 participants with recorded level of education, 50.1% had at–least completed secondary school. Out of 43 participants with recorded current employment status, 44.2% were not working for pay. A total of 10 (8.1% participants were sero-negative to rubella IgG antibodies. No factors were associated with seronegativity. Protection against rubella through natural infection appears inadequate to protect the population, increasing the risk of CRS.

Imported Genotype 2B Rubella Virus Caused the 2012 Outbreak in Anqing City, China.

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Zhen Zhu

Full Text Available A rubella outbreak occurred in Anqing city of Anhui province, China, from February to July of 2012, and a total of 241 clinically diagnosed or lab-confirmed patients were reported. The highest number of rubella cases during this outbreak was recorded in teenagers between 10 and 19 years of age who had not previously received the rubella vaccine. Genotyping results indicated that the genotype 2B rubella virus (RV was responsible for the outbreak. However, a phylogenetic analysis showed that the genotype 2B RVs isolated in Anqing City were not related to 2B RVs found in other cities of Anhui province and in other provinces of China, thus providing evidence for importation. After importation, the transmission of Anqing RVs was interrupted owing to an effective immunization campaign against rubella, suggesting the timeliness and effectiveness of contingency vaccination. Strengthening rubella surveillance, including the integration of epidemiologic information and laboratory data, is a vital strategy for rubella control and elimination. In addition, except for routine immunization, targeted supplementary immunization activities aimed at susceptible groups according to sero-epidemiological surveillance data also play a key role in stopping the continuous transmission of rubella viruses and in preventing further congenital rubella syndrome cases.

Case based rubella surveillance in Abia State, South East Nigeria, 2007–2011

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Umeh, Chukwuemeka Anthony

2014-01-01

Introduction. Rubella infection has the potential of causing severe fetal birth defects collectively called congenital rubella syndrome (CRS) if the mother is infected early in pregnancy. However, little is known about rubella and CRS epidemiology in Nigeria and rubella vaccines are still not part of routine childhood immunization in Nigeria. Methods. Analysis of confirmed cases of rubella in Abia State, Nigeria from 2007 to 2011 detected through Abia State Integrated Disease Surveillance and Response system. Results. Of the 757 febrile rash cases, 81(10.7%) tested positive for rubella immunoglobulin M (IgM). New rubella infection decreased from 6.81/1,000,000 population in 2007 to 2.28/1,000,000 in 2009 and increased to 6.34/1,000,000 in 2011. The relative risk of rubella was 1.5 (CI [0.98–2.28]) times as high in females compared to males and 1.6 times (CI [0.90–2.91]) as high in rural areas compared to urban areas. Eighty six percent of rubella infections occurred in children less than 15 years with a high proportion of cases occurring between 5 and 14 years. Conclusion. Rubella infection in Abia State, Nigeria is predominantly in those who are younger than 15 years old. It is also more prevalent in females and in those living in rural areas of the state. Unfortunately, there is no surveillance of CRS in Nigeria and so the public health impact of rubella infection in the state is not known. Efforts should be made to expand the rubella surveillance in Nigeria to incorporate surveillance for CRS. PMID:25289179

Seroprevalence of anti-rubella and anti-measles IgG antibodies in pregnant women in Shiraz, Southern Iran: outcomes of a nationwide measles-rubella mass vaccination campaign.

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Behnam Honarvar

Full Text Available OBJECTIVE: Nonimmune pregnant women are at risk of developing congenital rubella syndrome and measles complications. We aimed to identify pregnant women susceptible to rubella or measles in order to determine the need for immunity screening and supplemental immunization in women of childbearing age. METHOD: This seroprevalence survey was conducted by convenience sampling in obstetric hospitals affiliated with Shiraz University of Medical Sciences (southern Iran. Serum IgG levels were measured by ELISA. RESULT: Mean age of the 175 pregnant women was 27.3±5.3 (range 16 to 42 years. The geometric mean concentration of anti-rubella IgG was 14.9 IU/mL (CI 95%,14.1-15.5, and that of anti-measles IgG was 13.8 IU/mL (CI 95%, 13-14.5. One hundred sixty-eight women (96% had a protective serologic level (>11 IU/mL of IgG against rubella, and 143 (81.7% had a protective level against measles. Except for a significant inverse correlation that was showed by univariate analysis between anti-rubella IgG and the women's age (P = 0.01, immunity did not correlate with demographic or obstetric characteristics or medical history. There was no significant correlation between anti-rubella and anti-measles IgG levels (P = 0.25. CONCLUSION: Nearly a decade after Iran's nationwide measles-rubella vaccination campaign for the population aged 5-25 years, most pregnant women up to 34 years of age had humoral immunity against rubella. We recommend rubella immunity screening or catch-up immunization for women older than 35 years who wish to become pregnant, and measles immunity screening and appropriate vaccination for all women of childbearing age.

Rubella epidemic caused by genotype 1E rubella viruses in Beijing, China, in 2007-2011.

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Chen, Meng; Zhu, Zhen; Liu, Donglei; Huang, Guohong; Huang, Fang; Wu, Jiang; Zhang, Tiegang; Xu, Wenbo; Pang, Xinghuo

2013-04-18

A series of different rubella vaccination strategies were implemented to control rubella and prevent congenital rubella virus infection in Beijing, China. The rubella vaccine was available in 1995 in Beijing, and was introduced into the Beijing immunization program (vaccine recipients at their own expense vaccination) in 2000, and was introduced into the National Expanded Program on Immunization (vaccine recipients free vaccination) in 2006. Rubella virological surveillance started in Beijing in 2007. The reported rubella incidence rate has decreased dramatically due to the introduction of the vaccine in Beijing since 1995. However, rubella epidemics occurred regardless in 2001 and 2007. The incidence rate among the floating population has gradually increased since 2002, reaching 2 or more times that in the permanent resident population. The peak age of rubella cases gradually changed from tree was constructed based on the World Health Organization standard sequence window for rubella virus isolates. All Beijing rubella virus isolates belong to genotype 1E/cluster1 and were clustered interspersed with viruses from other provinces in China. The effective number of infections indicated by a Bayesian skyline plot remained constant from 2007 to 2011. The proportion of rubella cases among the floating population has increased significantly in Beijing since 2002, and the disease burden gradually shifted to the older age group (15- to 39-year olds), which has become a major group with rubella infection since 2006. Genotype 1E rubella virus continuously caused a rubella epidemic in Beijing in 2007-2011 and was the predominant virus, and all Beijing genotype 1E viruses belong to cluster 1, which is also widely circulated throughout the country.

Toward rubella elimination in Poland: need for supplemental immunization activities, enhanced surveillance, and further integration with measles elimination efforts.

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Zimmerman, Laura; Rogalska, Justyna; Wannemuehler, Kathleen A; Haponiuk, Marzena; Kosek, Adam; Pauch, Ewa; Plonska, Elzbieta; Veltze, Daniel; Czarkowski, Miroslaw P; Buddh, Nilesh; Reef, Susan; Stefanoff, Pawel

2011-07-01

All Member States of the World Health Organization (WHO) European Region have endorsed rubella elimination and congenital rubella syndrome (CRS) prevention. However, Poland has continued high levels of reported rubella. We reviewed rubella incidence in Poland since 1966 and analyzed national aggregated surveillance data from the period 2003-2008 and case-based data from 4 provinces from the period 2006-2008. We described CRS cases since 1997 and assessed maternal receipt of vaccine. We reviewed national vaccination coverage from 1992 through 2008. Since 1966, rubella outbreaks have occurred every 4-6 years in Poland. Aggregate and case-based data from the period 2003-2008 indicate that rubella virus transmission has occurred across wide age ranges (from continues. To achieve rubella elimination, supplemental immunization activities among adolescent boys are needed, as is integration with measles elimination efforts. Published by Oxford University Press on behalf of the Infectious Diseases Society of America 2011.

[Monitoring of implementation of international programs of poliomyelitis eradication and measles and rubella elimination in the Republic of Belarus].

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2012-01-01

Monitoring of implementation of international programs of poliomyelitis eradication, and measles and rubella elimination in the Republic of Belarus based on results of molecular-epidemiologic studies of 2009 - 2010. 271 viral agents isolated from children with acute flaccid paralysis syndrome, other diseases, healthy children and from sewage water within the framework of poliomyelitis control implementation were identified by serological and molecular methods. Blood sera of 528 patients with fever and rash were examined for the presence of IgM to measles and rubella virus, 418 - for the presence of IgM to parvovirus B19 and parvovirus DNA. Blood sera of 33 pregnant women and 64 children with signs of intrauterine infection were studied for IgM and IgG antibodies to rubella virus. Measles virus was isolated, N-gene sequence and phylogenetic analysis carried out. The studies performed confirmed that indigenous wild polioviruses in the country do not circulate, imported wild or vaccine-related polioviruses were also not detected. Measles and rubella morbidity in the Republic of Belarus was less than 1 in 1 000 000. 2 cases of rubella (2009) and 1 case of measles (2010) was detected during adequate control level: the rate of detection of patients with fever and rash, in whom measles and rubella diagnosis was excluded by the results of laboratory examination, was more than 2 in 100 000 of the population. The etiologic agent in more than 20% of diseases with fever and rash was parvovirus B19. A single case of measles was caused by genotype D8 virus imported from India. The data obtained give evidence to conformance of the poliomyelitis, measles, rubella, innate rubella syndrome control implemented in the Republic of Belarus to WHO recommendations; maintenance of status of country as free from poliomyelitis and achievement of main criteria of elimination of both measles and rubella by 2010.

[Vaccination against rubella].

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Rossolini, A; Barberi, A

1984-01-01

The infection caused by the rubella virus is a mild disease usually with no or rare complications in children and adults. On the contrary, intrauterine fetal infection may result in defects of the child, which may either be present at birth or become apparent later in life. Such a risk led to the preparation and use of active immunoprophylaxis against rubella in females of child-bearing age, in order to prevent congenital rubella. Three rubella viruses are employed to prepare the vaccine, all derived from the same viral strain. Doubts however, exist about vaccination, in particular about (1) its teratogenic potential in pregnancy; (2) the duration of protection. As a matter of fact, congenital malformations in the fetus exposed to vaccine virus through the mother have been reported in 3% of cases. As to the second point, the data on the protective immunity in time of the vaccine are very controversial. It is clear, anyhow, that protection against infection is associated not only with persistence of adequate serum levels of antibody, but also with other immunological parameters which are still unknown. These considerations, together with the observation that a relative high percentage of vaccine recipients do not respond, lead us to suggest modifications in the present scheduling of immunization against rubella.

A rubella serosurvey in postpartum women in the three regions of Peru.

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Suárez-Ognio, Luis; Adrianzén, Ana; Ortiz, Ana; Martínez, Carlos; Whittembury, Alvaro; Cabezudo, Edwin; de Oliveira, Lucia; Siqueira, Marilda M; Castillo-Solórzano, Carlos

2007-08-01

To determine the proportion of postpartum women aged 15-49 in Peru who are susceptible to rubella, in order to help address strategies to eliminate rubella and to prevent congenital rubella syndrome (CRS) in the country. A cross-sectional survey was conducted during March and April 2003 in six main regional hospitals, in the three geographic regions (coast, mountain, and jungle) of Peru. For the postpartum women who provided written informed consent, a questionnaire was administered and a blood specimen was collected. Sera were tested for rubella immunoglobulin G (IgG) antibody, using a commercial enzyme-linked immunosorbent serologic assay (ELISA) kit. Univariate, bivariate, and multivariate analyses were carried out to assess risk factors for susceptibility. In total, 1 236 postpartum women were enrolled. The overall proportion of IgG-antibody negative women was 12.8% (95% confidence interval (CI): 10.9%-14.6%). Bivariate analysis found the following variables associated with susceptibility: living in the jungle region (odds ratio (OR) = 1.65; 95% CI: 1.13-2.42); age jungle region (OR = 1.67; 95% CI: 1.13-2.46); age Peru among the countries facing a moderate level of risk for the occurrence of CRS cases. The findings suggest the need to also provide the rubella vaccine to other population groups, especially women of childbearing age.

Results of the rubella elimination program in Catalonia (Spain), 2002–2011

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Barrabeig, Irene; Torner, Nuria; Martínez, Ana; Carmona, Gloria; Ciruela, Pilar; Batalla, Joan; Costa, Josep; Hernández, Sergi; Salleras, Luis; Domínguez, Angela; Group of Catalonia, the Rubella Surveillance

2013-01-01

Rubella is usually a mild disease with nonspecific symptoms, but can cause congenital rubella syndrome (CRS) when infection occurs during pregnancy. The objective of this study was to evaluate the sensitivity and positive predictive value of different data sources used for surveillance purposes in the Rubella Elimination Program of Catalonia between 2002 and 2011. The Urgent Notification to the Statutory Disease Reporting System, the Individualized Disease Reporting System, screening for other viruses included in the Measles Elimination Program, the Microbiological Reporting System and the Minimum Hospital Discharge Data were evaluated. 100 suspected cases of postnatal rubella and 6 suspected cases of CRS were detected. For postnatal rubella, Urgent Notification had the highest sensitivity (32.5%; 95%CI 18.6–49.1), followed by the Virus screening in Measles Elimination Program (25%; 95%CI 12.7-41.2). Virus screening in the Measles Elimination Program had the highest PPV (76.9%; 95%CI 46.1–94.9), followed by the Individualized Disease Reporting System (57.1%; 95%CI 28.9–82.3). For CRS cases, the Individualized Disease Reporting System had the highest sensitivity (100%, 95%CI 29.2–100) and the highest PPV (60%; 95%CI 14.7–100). Most confirmed postnatal cases (25 cases, 48.1%) were in the 25–44 y age group followed by the 15–24 y age group (11 cases, 21.2%). The highest values of sensitivity and PPV for the detection of confirmed cases corresponded to activities that were specifically introduced in the measles and rubella elimination programs. PMID:23299566

Nueva meta de los programas de vacunación en la Región de las Américas: eliminar la rubéola y el síndrome de rubéola congénita New goal for vaccination programs in the Region of the Americas: to eliminate rubella and congenital rubella syndrome

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2003-11-01

Full Text Available The vaccination programs of the countries in the Region of the Americas have produced notable results over the last several decades. In recognition of those accomplishments, in June 2003 the 132nd session of the Executive Committee of the Pan American Health Organization (PAHO called on the Member States of PAHO to prepare, within one year, national action plans for the elimination of rubella and congenital rubella syndrome (CRS by the year 2010. During the Executive Committee discussions, praise was given for the sustained efforts of the countries of the Region in the struggle to eradicate measles. The Executive Committee discussions also reiterated the recommendation that the countries establish specific line items for immunization within their national budgets, in order to protect the investments in immunization that the Region's countries have made. The analysis of results of mass vaccination against rubella indicates that the benefits coming from accelerated control greatly exceed the costs associated with the treatment and rehabilitation of children with CRS. Various factors have created an environment that supports the goal of eliminating rubella and CRS from the Americas by the year 2010. These factors include the rapid reduction in morbidity that has come from the accelerated rubella control strategy; the availability of a safe, affordable, efficacious vaccine; the evidence of the cost benefit of vaccinating against rubella; and the broad support provided by the public and by health authorities in the Member States of PAHO.

Rubella vaccination in India: identifying broad consequences of vaccine introduction and key knowledge gaps.

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Winter, A K; Pramanik, S; Lessler, J; Ferrari, M; Grenfell, B T; Metcalf, C J E

2018-01-01

Rubella virus infection typically presents as a mild illness in children; however, infection during pregnancy may cause the birth of an infant with congenital rubella syndrome (CRS). As of February 2017, India began introducing rubella-containing vaccine (RCV) into the public-sector childhood vaccination programme. Low-level RCV coverage among children over several years can result in an increase in CRS incidence by increasing the average age of infection without sufficiently reducing rubella incidence. We evaluated the impact of RCV introduction on CRS incidence across India's heterogeneous demographic and epidemiological contexts. We used a deterministic age-structured model that reflects Indian states' rural and urban area-specific demography and vaccination coverage levels to simulate rubella dynamics and estimate CRS incidence with and without RCV introduction to the public sector. Our analysis suggests that current low-level private-sector vaccination has already slightly increased the burden of CRS in India. We additionally found that the effect of public-sector RCV introduction depends on the basic reproductive number, R 0, of rubella. If R 0 is five, a value empirically estimated from an array of settings, CRS incidence post-RCV introduction will likely decrease. However, if R 0 is seven or nine, some states may experience short-term or annual increases in CRS, even if a long-term total reduction in cases (30 years) is expected. Investment in population-based serological surveys and India's fever/rash surveillance system will be key to monitoring the success of the vaccination programme.

Rubella natural immunity among adolescent girls in Tanzania: the need to vaccinate child bearing aged women.

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Mirambo, Mariam M; Majigo, Mtebe; Scana, Seth D; Mushi, Martha F; Aboud, Said; Groß, Uwe; Kidenya, Benson R; Mshana, Stephen E

2018-01-03

Rubella primary infection during early stages of pregnancy is associated with high risk of congenital Rubella syndrome (CRS). Prevention of CRS in the resource-limited countries requires multiple strategies. Here, we document the data on the magnitude of Rubella natural immunity among adolescent girls which is a crucial group in devising effective control strategies to prevent CRS. A cross sectional study involving 397 adolescent girls was conducted in the city of Mwanza involving five secondary schools. Socio-demographic and other relevant information were collected using pre-tested data collection tool. Rubella IgG antibodies were determined using enzyme immunoassay. The presence of Rubella IgG titers of >10 IU/ml indicated natural immunity. The mean age of the study participants was 15.18 ± 1.48 years. Of 397 girls, 340 (85.6%) and 57 (14.4%) were from secondary schools representing peri-urban and rural areas, respectively. Out of 397 girls, 90.4% (95% CI: 87-93) were found to be naturally immune with median Rubella IgG antibodies titers of 56.7 IU/ml interquartile range (IQR): 40.8-137. The median Rubella IgG antibodies titers were significantly high in adolescent girls from families with high socio-economic status (63.96 vs. 47.13 IU/ml, P girls from peri-urban areas of the city (63.33 vs. 39.9 IU/ml, P girls in the city of Mwanza are naturally immune to Rubella virus. There is a need to compare the effectiveness of screening and vaccinating susceptible adolescent girls with the effectiveness of vaccinating all women of childbearing in controlling CRS in low-income countries.

Rubella

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... Z Regions » Africa Americas South-East Asia Europe Eastern Mediterranean Western Pacific WHO in countries » Overview Statistics ... introduced the vaccine and two regions (African and Eastern Mediterranean) that have not yet set rubella elimination ...

MMR Vaccine (Measles, Mumps, and Rubella)

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Mumpsvax® Mumps Vaccine ... Biavax® II (as a combination product containing Mumps Vaccine, Rubella Vaccine) ... II (as a combination product containing Measles Vaccine, Mumps Vaccine, Rubella Vaccine)

Symptomatic rubella re-infection in early pregnancy and subsequent ...

African Journals Online (AJOL)

1990-10-20

Oct 20, 1990 ... blood, but had no stigmata of congenital rubella at birth. Growth retardation was apparent at 6 months and hearing loss, not necessarily due to rubella, was detected at 8 months. Rubella re-infection, which may ... exhibited low levels of rubella IgM but infants were found to ... Birth weight was. 2090 g, length ...

[Simulating measles and rubella elimination levels according to social stratification and interaction].

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Hincapié-Palacio, Doracelly; Ospina-Giraldo, Juan; Gómez-Arias, Rubén D; Uyi-Afuwape, Anthony; Chowell-Puente, Gerardo

2010-02-01

The study was aimed at comparing measles and rubella disease elimination levels in a homogeneous and heterogeneous population according to socioeconomic status with interactions amongst low- and high-income individuals and diversity in the average number of contacts amongst them. Effective reproductive rate simulations were deduced from a susceptibleinfected- recovered (SIR) mathematical model according to different immunisation rates using measles (1980 and 2005) and rubella (1998 and 2005) incidence data from Latin-America and the Caribbean. Low- and high-income individuals' social interaction and their average number of contacts were analysed by bipartite random network analysis. MAPLE 12 (Maplesoft Inc, Ontario Canada) software was used for making the simulations. The progress made in eliminating both diseases between both periods of time was reproduced in the socially-homogeneous population. Measles (2005) would be eliminated in high- and low-income groups; however, it would only be achieved in rubella (2005) if there were a high immunity rate amongst the low-income group. If the average number of contacts were varied, then rubella would not be eliminated, even with a 95 % immunity rate. Monitoring the elimination level in diseases like measles and rubella requires that socio-economic status be considered as well as the population's interaction pattern. Special attention should be paid to communities having diversity in their average number of contacts occurring in confined spaces such as displaced communities, prisons, educational establishments, or hospitals.

Congenital rubella

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... that usually closes shortly after birth remains open ( patent ductus arteriosus ) Narrowing of the large artery that ... prior to pregnancy can prevent congenital rubella. Pregnant women who have not had the vaccine should avoid ...

How useful is a history of rubella vaccination for determination of disease susceptibility? A cross-sectional study at a public funded health clinic in Malaysia

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Cheong Ai Theng

2013-01-01

Full Text Available Abstract Background Identification of pregnant women susceptible to rubella is important as vaccination can be given postpartum to prevent future risks of congenital rubella syndrome. However, in Malaysia, rubella antibody screening is not offered routinely to pregnant women in public funded health clinics due to cost constraint. Instead, a history of rubella vaccination is asked to be provided to establish the women’s risk for rubella infection. The usefulness of this history, however, is not established. Thus, this paper aimed to determine the usefulness of a history of rubella vaccination in determining rubella susceptibility in pregnant women. Methods A cross-sectional study was conducted on 500 pregnant women attending a public funded health clinic. Face-to-face interviews were conducted, and demographic data and history of rubella vaccination were obtained. Anti-rubella IgG test was performed. Results A majority of the women (66.6% had a positive vaccination history. Of these, 92.2% women were immune. A third (33.4% of the women had a negative or unknown vaccination history, but 81.4% of them were immune to rubella. The sensitivity and specificity of a history of rubella vaccination in identifying disease susceptibility was 54.4% (95% CI: 40.7, 67.4% and 69.3% (95% CI: 64.7, 73.5% respectively; the positive predictive value was 18.6% (95% CI: 13.1, 25.5% and the negative predictive value was 92.2% (95% CI: 88.6, 94.7%. Conclusions A vaccination history of rubella had a poor diagnostic value in predicting rubella susceptibility. However, obtaining a vaccination history is inexpensive compared with performing a serological test. A cost-utility analysis would be useful in determining which test (history versus serological test is more cost-effective in a country with resource constraint.

How useful is a history of rubella vaccination for determination of disease susceptibility? A cross-sectional study at a public funded health clinic in Malaysia.

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Cheong, Ai Theng; Tong, Seng Fah; Khoo, Ee Ming

2013-01-31

Identification of pregnant women susceptible to rubella is important as vaccination can be given postpartum to prevent future risks of congenital rubella syndrome. However, in Malaysia, rubella antibody screening is not offered routinely to pregnant women in public funded health clinics due to cost constraint. Instead, a history of rubella vaccination is asked to be provided to establish the women's risk for rubella infection. The usefulness of this history, however, is not established. Thus, this paper aimed to determine the usefulness of a history of rubella vaccination in determining rubella susceptibility in pregnant women. A cross-sectional study was conducted on 500 pregnant women attending a public funded health clinic. Face-to-face interviews were conducted, and demographic data and history of rubella vaccination were obtained. Anti-rubella IgG test was performed. A majority of the women (66.6%) had a positive vaccination history. Of these, 92.2% women were immune. A third (33.4%) of the women had a negative or unknown vaccination history, but 81.4% of them were immune to rubella. The sensitivity and specificity of a history of rubella vaccination in identifying disease susceptibility was 54.4% (95% CI: 40.7, 67.4%) and 69.3% (95% CI: 64.7, 73.5%) respectively; the positive predictive value was 18.6% (95% CI: 13.1, 25.5%) and the negative predictive value was 92.2% (95% CI: 88.6, 94.7%). A vaccination history of rubella had a poor diagnostic value in predicting rubella susceptibility. However, obtaining a vaccination history is inexpensive compared with performing a serological test. A cost-utility analysis would be useful in determining which test (history versus serological test) is more cost-effective in a country with resource constraint.

Congenital Heart Diseases associated with Identified Syndromes ...

African Journals Online (AJOL)

Recognised syndromes were seen in 69(68%) cases. Down syndrome with 54 children contributed 78.3% of those with known syndromes. Other identified syndromes and associations were Marfan's, Noonan's, Edwards, Prune Belly, Apert, Ellis-van creveld syndrome and congenital rubella syndrome. Congenital heart ...

Are healthcare workers immune to rubella?

Science.gov (United States)

Borràs, Eva; Campins, Magda; Esteve, María; Urbiztondo, Luis; Broner, Sonia; Bayas, José María; Costa, Josep; Domínguez, Angela

2014-01-01

Healthcare workers (HCW) have high exposure to infectious diseases, some of which, such as rubella, are vaccine-preventable. The aim of this study was to determine the immunity of HCW against rubella. We performed a seroprevalence study using a self-administered survey and obtained blood samples to determine rubella Immunoglobulin G (IgG) antibody levels in HCW during preventive examinations by five Primary Care Basic Prevention Units and six tertiary hospitals in Catalonia. Informed consent was obtained. IgG was determined using an antibody capture microparticle direct chemiluminometric technique. The odss ratio (OR) and 95% confidence intervals (CI) were calculated. Logistic regression was made to calculate adjusted OR. Of 642 HCW who participated (29.9% physician, 38.8% nurses, 13.3% other health workers and 18% non-health workers), 46.6% were primary care workers and 53.4% hospital workers. Of total, 97.2% had rubella antibodies. HCW aged 30-44 years had a higher prevalence of antibodies (98.4%) compared with HCW aged<30 years (adjusted OR 3.92; 95% CI 1.04-14.85). The prevalence was higher in nurses than in other HCW (adjusted OR: 5.57, 95% CI 1.21-25.59). Antibody prevalence did not differ between females and males (97.4% vs. 97.1%, P 0.89), type of center (97.7% vs. 96.8%, P 0.51) or according to history of vaccination (97.3% vs. 96.8%, P 0.82). Seroprevalence of rubella antibodies is high in HCW, but workers aged<30 years have a higher susceptibility (5.5%). Vaccination should be reinforced in HCW in this age group, due to the risk of nosocomial transmission and congenital rubella.

Optimization and Validation of a Real Time Reverse Transcriptase Polymerase Chain Reaction with RNA Internal Control to Detect Rubella RNA

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Winny Xie

2013-12-01

Full Text Available BACKGROUND: According to a report from WHO, cases of rubella infection in Indonesia has increased up to 10-fold from 2007 to 2011. Despite no data of congenital rubella syndrome in the report, there are approximately 45,000 cases of babies born with heart failure and 0.1-0.3% live births with congenital deafness in Indonesia. Allegedly, rubella infection during pregnancy may play a role in this condition. This study aimed to optimize and validate a real-time reverse transcriptase polymerase chain reaction (RT-qPCR method to detect rubella virus RNA as an aid for the diagnosis of congenital rubella infection. METHODS: Method optimization was conducted using nucleic acids extracted from Trimovax Merieux vaccine with the High Pure Viral Nucleic Acid Kit. One step RT-qPCR was performed with Quantifast Multiplex RTPCR+R Kit. Target synthetic DNA was designed and used to determine the sensitivity of the method. RNA internal control was synthesized to control the process of extraction and amplification. RESULTS: The analytical sensitivity of this method was as low as 5 copies target synthetic DNA/μl. The mean Coefficient of Variation (CV % of the critical threshold (Ct obtained were 2.71%, 1.20%, 1.62%, and 1.59% for within run, between run, between kit lots, and between operators, respectively. Recovery of the target synthetic DNA from amniotic fluid was 100.51% (by the log copies/μl at the concentration of 1,000,000 copies/μl. CONCLUSIONS: RT-qPCR is successfully used for the detection of rubella virus RNA in vaccine and synthetic nucleic acid. With its high sensitivity, good precision and recovery, this method offers a means to improve the diagnosis of congenital rubella infection in developing countries like Indonesia. KEYWORDS: congenital rubella, RT-qPCR, prenatal diagnosis, amniotic fluid.

Australian rubella serosurvey 2012-2013: On track for elimination?

Science.gov (United States)

Edirisuriya, Chathura; Beard, Frank H; Hendry, Alexandra J; Dey, Aditi; Gidding, Heather F; Hueston, Linda; Dwyer, Dominic E; Wood, James G; Macartney, Kristine K; McIntyre, Peter B

2018-04-13

The World Health Organization has targeted rubella virus for elimination regionally. Australia was one of the first countries to implement a nationally funded rubella immunisation program, in 1971, and conducts regular national rubella serosurveillance studies. We aimed to estimate the seroprevalence of rubella-specific IgG antibody in the Australian population by age and sex in 2012-2013, to compare the results with three previous serosurveys conducted in 1996-1999, 2002 and 2007 and to estimate the effective reproduction numbers (R n ). This study used 2729 serum and plasma specimens, randomly selected from a specimen bank collected in 2012-2013 across Australia. Age groups included in the sample ranged from 1 to 49 years. Sera were tested for rubella-specific IgG-antibody using the Enzygnost anti-rubella IgG enzyme immunoassay and classified as positive, negative or equivocal according to rubella-specific IgG concentrations of >7 IU/ml, <3 IU/ml and 3-7 IU/ml, respectively. The overall proportions seropositive, seronegative and equivocal for rubella-specific IgG were 92.1% (95% CI, 91.0-93.2), 6.7% (95% CI, 5.7-7.7) and 1.2% (95% CI, 0.8-1.6), respectively. The proportion of males seropositive was significantly lower than females in the 30-34 (83.1% vs. 96.8%, p = 0.003), 35-39 (86.1% vs. 96.3%, p = 0.02) and 40-44 (86.1% vs. 95.7%, p = 0.03) year age groups. R n for rubella in 2012-2013 was estimated to be 0.33 (95% CI 0.28-0.39). The 2012-2013 national serosurvey showed levels of rubella-specific IgG seropositivity in the Australian population are relatively high with no evidence of decrease compared to previous serosurveys conducted in 1996-1999, 2002 and 2007. The lower proportion of seropositive males aged 30-44 years likely reflects the initial immunisation program targeting females only. To our knowledge this study represents the longest period of serosurveillance following introduction of a nationally funded rubella immunisation

Essential oils from Calyptranthes concinna, C. lucida and C. rubella (Myrtaceae Óleos essenciais de Calyptranthes concinna, C. lucida and C. rubella (Myrtaceae

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Renata Pereira Limberger

2002-09-01

Full Text Available Essential oils from Calyptranthes concinna, C. lucida and C. rubella, collected in Southern Brazil, were analyzed by GC and GC/MS. Sixty-two compounds were identified representing about 98% of the oil contents. All samples were rich in cyclic sesquiterpenes (more than 90 %, mainly those from cadinane, bisabolane and germacrane cyclization pathway. The mainly components characterized were bicyclogermacrene (22.1% in C. concinna;11.7% in C. rubella, cis-calamenene (10.3% in C. concinna, beta-caryophyllene (16.5% in C. rubella; 9.4% in C. lucida, beta-bisabolene (25.5% in C. lucida, spathulenol (15.4% in C. rubella and caryophyllene oxide (7.6% in C. concinna.Os óleos essenciais de Calyptranthes concinna, C. lucida e C. rubella, coletadas no sul do Brasil, foram analisados por GC/FID e GC/MS. Sessenta e dois constituintes foram identificados representando cerca de 98% do óleo. Todas as amostras mostraram-se ricas em sesquiterpenos cíclicos (mais de 90%, principalmente aquelas da via de ciclização dos cadinanos, bisabolanos e germacranos. Os principais constituintes caracterizados foram biciclogermacreno (22,1% em C. concinna; 11,7% em C. rubella, cis-calameneno (10,3% em C. concinna, betacariofileno (16,5% em C. rubella; 9,4% em C. lucida, beta-bisaboleno (25,5% em C. lucida, espatulenol (15,4% em C. rubella e óxido de cariofileno (7,6% em C. concinna.

Trend of measles, mumps, and rubella incidence following the measles-rubella catch up vaccination in the Republic of Korea, 2001.

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Choe, Young June; Eom, Hye-Eun; Cho, Sung-Il

2017-09-01

Following the introduction of measles-rubella (MR) catch-up vaccination in 2001 and two dose measles-mumps-rubella (MMR2) keep-up program in 2002, the incidence of measles, mumps, and rubella was not evaluated systematically. To describe the recent changes in epidemiology, a population-based incidence study from 2001 to 2015 using national notifiable disease surveillance data was conducted. Between 2001 and 2015, there was decrease in the incidence of measles and rubella, whereas a steady increase in mump incidence was noted. The age distribution of mumps cases has shifted to the older age group, whereas rubella became more frequent in younger age group. The incidence of mumps showed an increase in every birth cohorts, except for the decrease in incidence for catch-up vaccination cohort from 131 cases in 2007-2011 to 64 cases per 100 000 in 2012-2015. Continuing in monitoring of mumps and strengthening of the high two-dose MMR vaccination coverage should be taken place in Korea. © 2017 Wiley Periodicals, Inc.

The epidemiology of rubella in the Republic of Ireland.

LENUS (Irish Health Repository)

Jennings, S

1993-07-16

The trend in notified cases of rubella in the Republic of Ireland from 1950 to 1990 has been downward, with a mean interval of four years between peak periods. Vaccine uptake and antenatal immunity levelled out in the 1980s at 85% and 87%, respectively. One hundred and six cases of congenital rubella were recorded between 1975 and 1990, 66 being reported by paediatricians. The fact that cases of congenital rubella still occur highlights the need for a continued and aggressive immunisation policy, up-to-date and cohort-based data on vaccine uptake, and the introduction of a congenital rubella register.

Seroprevalence of rubella among Jordanian women of childbearing age.

Science.gov (United States)

Jarour, Najwa; Hayajneh, Wail A; Balbeesi, Adel; Otoom, Haidar; Al-Shurman, Abdullah; Kharabsheh, Sa'ad

2007-05-04

This study was conducted to assess immunity (seroprevalence) to rubella among Jordanian women of childbearing age. A multistage cluster sampling was used to recruit 1125 women of childbearing age (15-49 year) from the 12 Governorates of Jordan. Anti-rubella antibody titers were measured using enzyme-linked immunoassays. The overall immunity rate to rubella among women in childbearing age was 90.9% (CI: 88.8-92.9). However, the immunity rate was significantly lower in younger women aged 15-19 years (83%) compared to the whole cohort (Ppre-marriage counseling regarding rubella and CRS for young females.

Rubella Vaccination During Pregnancy Trabzon Turkey 2009

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Mehmet Osmanağaoğlu

2010-12-01

CONCLUSION: Although the rubella vaccination does not seem to be risky in early pregnancy, the pregnancy test should be taken to all women who wants to rubella vaccination or all women should be counseled to avoid becoming pregnant for 1 month after vaccination.

seroprevalence survey of rubella antibodies among pregnant

African Journals Online (AJOL)

boaz

This result highlights the consequence of rubella infection and confirms continuous circulation of rubella virus in the study area. There is need ... fever, arthralgia, and lymphadenopathy. In most cases, the disease is self-limiting and rarely causes complications (3). Complications of CRS may include miscarriage and severe ...

Rubella virus detection by ELISA method in exposed radiation workers

International Nuclear Information System (INIS)

Wu Jianmei; Zhu Bo; Zhu Youming; Shao Jinhui; Wu Weiping; Han Jinxiang

2005-01-01

Objective: A rapid diagnosis method was developed to detect Rubella virus infection in radiation workers. Methods: Modified ELISA method was used to detect the level of lgG and lgM antibodies in 514 in Jinan district. Results: 90.47% of 514 cases was shown to be resistant against Rubella virus; 6.42% were sensitive type; 0.78% belonged to be reinfected. Conclusion: Detection of Rubella virus in exposed radiation workers was imperative, and vaccine against Rubella virus was also needed to eliminate the infection risk. (authors)

Dandy-Walker Syndrome

Science.gov (United States)

... treatment options. Other research indicates that mothers with diabetes and those with rubella (German measles) during pregnancy are more likely to have a child with Dandy-Walker syndrome. × What research is being ...

Incidencia y patrones de transmisión de rubeola en México Incidence and transmission patterns of rubella in Mexico

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José Luis Díaz-Ortega

2007-10-01

Full Text Available OBJETIVO: Describir los cambios en los patrones de transmisión de rubeola en México. MATERIAL Y MÉTODOS: Se analizó la incidencia durante el periodo 1990 a 2005 y se calcularon la tendencia por regresión lineal simple y el corredor endémico por transformación logarítmica de la media geométrica de las tasas de incidencia mensual y recorridos superior e inferior por IC95%. RESULTADOS: La morbilidad mostró una tendencia estable de 1990 a 1998 y descendente de 1999 a 2005 (r=-0.88, r²=0.77, con disminución acumulada de 97.1%. Además, se observaron la atenuación de la variación estacional, la interrupción transitoria de transmisión en 13 estados y el aumento de la proporción de casos en personas de 15 a 44 años y menores de un año, después del inicio de la vacunación antes de los siete años y de la estrategia combinada de inmunización (niños y adultos, respectivamente, con reducción de la incidencia en ambos grupos. CONCLUSIONES: El reforzamiento de la vigilancia y la vacunación sistemática y suplementaria favorecerá la interrupción endémica y la propuesta de su eliminación continental para 2010.OBJECTIVE: To describe changes in the transmission patterns of rubella in Mexico. MATERIAL AND METHODS: An analysis of rubella incidence during 1990-2005 was performed to estimate the morbidity trend through a simple linear regression model. Endemic mapping was carried out by logarithmic transformation of the geometric mean of monthly incidence rates and 95% CI to estimate high and low endemic ranges. RESULTS: A stable trend was observed in morbidity during 1990-1998 ,descending during 1999-2005 (r=-0.88, r²=0.77, with a 97.1% cumulative decrease. Attenuation during seasonal variation, temporary interruption of transmission in 13 states and increase in the proportion of cases in 15-44 year-olds as well as in children less than one year of age, have been observed respectively after starting vaccination of children less than

21 CFR 866.3510 - Rubella virus serological reagents.

Science.gov (United States)

2010-04-01

... (CONTINUED) MEDICAL DEVICES IMMUNOLOGY AND MICROBIOLOGY DEVICES Serological Reagents § 866.3510 Rubella virus... Clinical Laboratory Standards': (i) 1/LA6 “Detection and Quantitation of Rubella IgG Antibody: Evaluation... Products in the Clinical Laboratory, October 1997,” (ii) 1/LA18 “Specifications for Immunological Testing...

Radioimmunoassay for antibodies to rubella virus and its ribonucleoprotein component

International Nuclear Information System (INIS)

Ho-Terry, L.; Cohen, A.

1979-01-01

Using a radioimmune precipitation technique, the antibody response to intact rubella virus and its ribonucleoprotein component was measured. The method was very sensitive and reproducible, and did not require preliminary serum fractionation for the identification of antibodies of different immunoglobulin classes. The results showed that the IgA and IgG antibodies against the intact virus persisted in the sera of patients long after the initial infection. In contrast, IgA and IgG antibodies against the ribonucleoprotein component of rubella virus were detected only in sera of patients after recent rubella infection. This observation suggested that a test for antibodies to the ribonucleoprotein component may provide additional evidence in the diagnosis of recent rubella infection. This could be potentially a useful test particularly in the management of pregnant patients. (U.K.)

Measles & rubella outbreaks in Maharashtra State, India

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Vaidya, Sunil R.; Kamble, Madhukar B.; Chowdhury, Deepika T.; Kumbhar, Neelakshi S.

2016-01-01

Background & objectives: Under the outbreak-based measles surveillance in Maharashtra State the National Institute of Virology at Pune receives 3-5 serum samples from each outbreak and samples from the local hospitals in Pune for laboratory diagnosis. This report describes one year data on the measles and rubella serology, virus isolation and genotyping. Methods: Maharashtra State Health Agencies investigated 98 suspected outbreaks between January-December 2013 in the 20 districts. Altogether, 491 serum samples were received from 20 districts and 126 suspected cases from local hospitals. Samples were tested for the measles and rubella IgM antibodies by commercial enzyme immunoassay (EIA). To understand the diagnostic utility, a subset of serum samples (n=53) was tested by measles focus reduction neutralization test (FRNT). Further, 37 throat swabs and 32 urine specimens were tested by measles reverse transcription (RT)-PCR and positive products were sequenced. Virus isolation was performed in Vero hSLAM cells. Results: Of the 98 suspected measles outbreaks, 61 were confirmed as measles, 12 as rubella and 21 confirmed as the mixed outbreaks. Four outbreaks remained unconfirmed. Of the 126 cases from the local hospitals, 91 were confirmed for measles and three for rubella. Overall, 93.6 per cent (383/409) confirmed measles cases were in the age group of 0-15 yr. Measles virus was detected in 18 of 38 specimens obtained from the suspected cases. Sequencing of PCR products revealed circulation of D4 (n=9) and D8 (n=9) strains. Four measles viruses (three D4 & one D8) were isolated. Interpretation & conclusions: Altogether, 94 measles and rubella outbreaks were confirmed in 2013 in the State of Maharasthra indicating the necessity to increase measles vaccine coverage in the State. PMID:27121521

A large rubella outbreak with spread from the workplace to the community.

Science.gov (United States)

Danovaro-Holliday, M C; LeBaron, C W; Allensworth, C; Raymond, R; Borden, T G; Murray, A B; Icenogle, J P; Reef, S E

2000-12-06

Childhood vaccination has reduced rubella disease to low levels in the United States, but outbreaks continue to occur. The largest outbreak in the past 5 years occurred in Nebraska in 1999. To examine risk factors for disease, susceptibility of the risk population, role of vaccine failure, and the need for new vaccination strategies in response to the Nebraska rubella outbreak. Investigation of 83 confirmed rubella cases occurring in Douglas County, Nebraska, between March 23 and August 24, 1999; serosurvey of 413 pregnant women in the outbreak locale between October 1998 and March 1999 (prior to outbreak) and April and November 1999 (during and after outbreak). Case characteristics, compared with that of the general county population; area childhood rubella vaccination rates; and susceptibility among pregnant women before vs during and after the outbreak. All 83 rubella cases were unvaccinated or had unknown vaccination status and fell into 3 groups: (1) 52 (63%) were young adults (median age, 26 years), 83% of whom were born in Latin American countries where rubella vaccination was not routine. They were either employed in meatpacking plants or were their household contacts. Attack rates in the plants were high (14.4 per 1000 vs 0. 19 per 1000 for general county population); (2) 16 (19%), including 14 children (9 of whom were aged pregnant women, susceptibility rates were 13% before the outbreak and 11% during and after the outbreak. Six (25%) of 24 susceptible women tested were seropositive for rubella IgM. Rubella vaccination rates were 90.2% for preschool children and 99.8% for school-aged children. A large rubella outbreak occurred among unvaccinated persons in a community with high immunity levels. Crowded working and living conditions facilitated transmission, but vaccine failure did not. Workplace vaccination could be considered to prevent similar outbreaks. JAMA. 2000;284:2733-2739.

[Effectiveness, population-level effects, and heath economics of measles and rubella vaccination].

Science.gov (United States)

Wichmann, O; Ultsch, B

2013-09-01

Vaccination against measles and rubella has been included in national immunization programs worldwide for several decades. In this article, we present the evidence related to the effectiveness of measles and rubella vaccination based on published systematic reviews, and we describe the epidemiological and health economic effects of vaccination at a population level. Several observational studies demonstrate the high effectiveness (> 90 %) of both measles and rubella vaccination. The global measles mortality reduction and the dramatic decrease in rubella and measles incidences after introduction of routine immunization contribute to the very high quality of evidence. The countries of the Americas have proved that it is feasible to eliminate measles and rubella by strengthening infant immunization through routine vaccination services and by conducting supplemental immunization activities in other childhood age groups so as to close immunity gaps. An economic evaluation of measles and rubella vaccination specifically for the healthcare system in Germany does not exist. However, we conducted a systematic review and identified 11 health-economic studies from other industrialized countries and one for a hypothetical industrialized country. Results indicate that vaccination against measles and rubella had either a cost-effective or even a cost-saving potential, which could be assumed with some limitations also for the German setting. In conclusion, there is compelling evidence that the available vaccines are very effective and that measles and rubella elimination is feasible if adequate vaccination strategies are implemented. In Germany, catch-up vaccination programs are urgently needed for children, adolescents, and young adults specifically in the western federal states.

Rubella serology by solid-phase radioimmunoassay: its potential for screening programmes

International Nuclear Information System (INIS)

Sugishita, C.; O'Shea, S.; Best, J.M.; Banatvala, J.E.

1978-01-01

Sera from 269 adult females who had experienced naturally acquired or vaccine-induced infection by rubella virus, including immune persons challenged intranasally with rubella vaccine (RA27/3) as well as sera from 100 patients attending antenatal clinics, were tested for rubella antibodies by the conventional haemagglutination inhibition tests (HAI), as well as a newly developed solid-phase radioimmunoassay (RIA) for rubella immunoglobulin G(IgG) antibodies. Following both naturally acquired and vaccine-induced infection, titres by RIA were approximately ten-fold higher than by HAI. The RIA test was particularly useful in assessing the true immune status of those with apparently low levels of HAI antibody and has the added advantage that pretreatment of sera to remove inhibitors of haemagglutination and red cell agglutinins is unnecessary. The RIA test has potential for the large-scale screening programmes which need to be carried out if the Department of Health and Social Security recommendation, that women attending antenatal and family planning clinics be screened for rubella antibodies, is to be effectively met. (author)

Seroprevalence of Rubella antibodies among pregnant women with bad obstetric history in tertiary care hospital

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Shashi Chopra

2015-01-01

Full Text Available Background Infection with rubella virus can be disastrous in early gestation. Rubella is a major cause of birth defects in infants and the risk of having congenital rubella in seronegative pregnant women is more in developing countries. Aim This study was carried to determine the seroprevalence of rubella antibodies in pregnant women. Setting and Design Three years retrospective study in the department of Microbiology, PIMS, Jalandhar. Material and method This study comprised of 250 pregnant women, whose blood samples were collected, sera were screened for rubella specific IgM and IgG antibodies by RecomLine ToRCH Result Out of 250 samples (Study group, 53% (n=132 were seropositive for IgG antibodies and 4.5% (n=9 were seropositive for IgM antibodies. Conclusion Our study demonstrates a strong association between rubella infection and BOH in women. Serosurveillance of Rubella among adolescent girls and women of child bearing age should be considered at a national level to prevent innumerable abortions, stillbirth and congenital anomalies due to rubella.

Modified measles versus rubella versus atypical measles: One and same thing

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Surender Nikhil Gupta

2015-01-01

Full Text Available Introduction: In outbreak settings, more than one virus may be infecting the given population. In twin or triple outbreak of measles, German measles (rubella, and varicella in highly immunized hilly areas, maximal number of the case patients in all the hilly villages belonged to the older age group. It suggested an obvious shift to the higher age group, warranting second dose opportunity in such case scenario. The clinical presentations of viral diseases are too similar to differentiate. The aim is to clearly categorize the case patients of modified measles, rubella, and atypical measles in outbreak settings. Results: Four outbreaks are listed. In the first one, sixty case patients were identified from 1026 people in 5 villages. Of these, 41 were diagnosed by clinically, 8 were laboratory confirmed as measles and 11 were epidemiologically linked German measles case patients. Seventy percent of the cases were vaccinated for measles. In second case, we identified 29/35 measles and 6/35 were confirmed as epidemiologically linked unvaccinated chickenpox case patients. In third one, we identified 116 cases in eight villages (112/116 clinically and 04/116 laboratory confirmed. Majority of cases were immunized against measles, but only minor cases for rubella. In fourth case, we identified 505 case patients from mixed outbreaks of varicella, measles and rubella (30/505 clinically, 467/505 epidemiologically linked and 8/505 laboratory confirmed case patients from a study population of 3280. In all the four outbreaks, prima facie, the clinical presentations of both rubella and modified measles were difficult to differentiate. Discussion: On the basis of outbreak investigation and analytical inference, it has been observed that the symtomatology of modified measles and laboratory confirmed rubella case patients/epidemiologically linked cases are so similar placed that many a time, it becomes much difficult to line list the cases in one section of modified

Outbreak of rubella after mass vaccination of children and adult women: challenges for rubella elimination strategies Brote epidémico de rubéola tras la vacunación masiva de niños y mujeres adultas: un reto para las estrategias de eliminación de la rubéola

Directory of Open Access Journals (Sweden)

Ivone Andreatta Menegolla

2011-04-01

Full Text Available OBJECTIVE: To describe rubella outbreaks and control strategies in the Brazilian state of Rio Grande do Sul before rubella elimination. METHODS: We analyzed rubella and congenital rubella syndrome surveillance data for the state of Rio Grande do Sul and calculated age- and gender-specific incidence of confirmed rubella cases in 2007. We obtained data on measles-rubella doses administered during the outbreak from the state immunization program and reviewed the timing of suspect case notification and implementation of control measures. RESULTS: Of 2 842 confirmed rubella cases reported to the state health department in 2007, 2 145 (75.5% were in males (39.5 cases per 100 000 population and 697 (24.5% were in females (12.3 per 100 000 population. Incidence among 15- to 39-year-olds was 1.8 to 5.5 times higher in males than in females. Rubella genotype 2B was detected in nasopharyngeal specimens from 13 patients from multiple chains of transmission. Eight children were born with congenital rubella syndrome (5.9 cases per 100 000 births in 2008. Delayed notification of initial cases hampered early control efforts, resulting in outbreak spread throughout the state. Rubella transmission was interrupted after mass vaccination of adult men and women as part of a national vaccination campaign. CONCLUSIONS: Routine vaccination strategies and mass vaccination of adolescents and adults for accelerated rubella control and elimination should target men and women.OBJETIVO: Describir los brotes de rubéola y las estrategias para el control de la enfermedad anteriores a la eliminación de la rubéola en el estado brasileño de Rio Grande do Sul. MÉTODOS: Se analizaron los datos de vigilancia epidemiológica sobre la rubéola y el síndrome de rubéola congénita del estado de Rio Grande do Sul y se calculó la incidencia específica por edad y sexo de los casos confirmados de rubéola en el 2007. A partir del programa de vacunación estatal se obtuvieron datos

MMR (measles, mumps, and rubella) vaccine - what you need to know

Science.gov (United States)

... taken in its entirety from the CDC MMR (Measles, Mumps, & Rubella) Vaccine Information Statement (VIS): www.cdc. ... Why get vaccinated? Measles, mumps, and rubella are viral diseases that can ... Before vaccines, these diseases were very common in ...

Antibody class capture assay (ACCA) for rubella-specific IgM antibody.

Science.gov (United States)

Isaac, M; Payne, R A

1982-01-01

Enzyme-linked immunosorbent assays for IgM antirubella were carried out on 1,546 sera, using an IgM capture method with a F (ab')2 conjugate (ACCA). Under the conditions described, sera containing IgM antirubella bound up to 15 times as much enzyme activity as negative specimens. Paired serum specimens from 27 patients, serial serum specimens from 6 patients, and single serum specimens from 15 patients who had had recent rubella were examined by the haemagglutination inhibition test (HAI) in the presence and absence of 2-mercaptoethanol following sucrose density gradient centrifugation (SDGC). ACCA confirmed all the results found with HAI following SDGC. Specimens were examined from ten patients with congenital rubella; ACCA confirmed the results found with both immunofluorescence following SDGC and radioimmunoassay. Pre- and post-vaccination specimens from 123 patients who had been vaccinated against rubella were examined. An IgM response could only be demonstrated in the 57 cases when IgG was absent in the first specimen. The specificity of the assay was confirmed by testing 31 serum specimens from rubella immune patients that also contained rheumatoid factor, 163 serum specimens from patients with acute infections other than rubella, and 12 serum specimens from infants with miscellaneous neonatal abnormalities other than congenital rubella. The ACCA proved a simple, sensitive, and specific test for IgM antirubella and the results compared favourably with those obtained by the SDGC technique.

[Surveillance Plan on Recent Outbreak of Measles and Rubella in Catalonia, Spain].

Science.gov (United States)

Jané, Mireia; Torner, Nuria; Vidal, Ma José

2015-01-01

Measles and rubella are two immuno-preventive illnesses. In Catalonia, since 1988 all children are given two doses of measles and rubella vaccine with high levels of vaccination coverage. The measles elimination programme has been carried out since 1990 in Catalonia. This programme includes achieving and keeping high immunization levels among population with high vaccination coverage, intense epidemiological surveillance and an immediate response to the appearance of a case or outbreak. In 2014, the measles incidence rate was 1.9 cases/ 100,000 inhabitants. There were 4 recent outbreaks in 2006, 2011, 2013 and 2014 that affected 381, 289, 31 and 124 people respectively. All outbreaks were triggered by an imported case. In 2011 and 2014 measles outbreaks, 6% and 5.5% of affected people were health care workers. All outbreaks presented a great variety of measles genotypes. Concerning rubella elimination programme, since 2002, 68 cases of postnatal rubella and 5 cases of congenital rubella were confirmed. Regarding measles and rubella surveillance and control, in addition to strengthen vaccination coverage, it is essential immediate notification, within the first 24 hours since suspicion and laboratory confirmation. In addition there is a need to enforce vaccination among health care workers as well as in other susceptible and unvaccinated people. It is recommended to vaccinate all people who were born after 1966 and who have not been vaccinated with two doses of trivalent measles-mumps-rubella vaccine. Furthermore, we have to emphasize that the progress concerning genotypes study allows identifying various imported cases from other European countries with active outbreaks, aspect that makes easier the surveillance of these illnesses.

Evaluation of the World Health Organization global measles and rubella quality assurance program, 2001-2008.

Science.gov (United States)

Stambos, Vicki; Leydon, Jennie; Riddell, Michaela; Clothier, Hazel; Catton, Mike; Featherstone, David; Kelly, Heath

2011-07-01

During 2001-2008, the Victorian Infectious Diseases Reference Laboratory (VIDRL) prepared and provided a measles and rubella proficiency test panel for distribution to the World Health Organization (WHO) measles and rubella network laboratories as part of their annual laboratory accreditation assessment. Panel test results were forwarded to VIDRL, and results from 8 consecutive years were analyzed. We assessed the type of assays used and results achieved on the basis of the positive and negative interpretation of submitted results, by year and WHO region, for measles and rubella. Over time, there has been a noticeable increase in laboratory and WHO regional participation. For all panels, the proportion of laboratories in all WHO regions using the WHO-validated Dade Behring assay for measles and rubella-specific IgM antibodies ranged from 35% to 100% and 59% to 100%, respectively. For all regions and years, the proportion of laboratories obtaining a pass score ranged from 87% to 100% for measles and 93% to 100% for rubella. During 2001-2008, a large proportion of laboratories worldwide achieved and maintained a pass score for both measles and rubella. Measles and rubella proficiency testing is regarded as a major achievement for the WHO measles and rubella laboratory program. © The Author 2011. Published by Oxford University Press on behalf of the Infectious Diseases Society of America. All rights reserved.

NNDSS - Table II. Rubella to Salmonellosis

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U.S. Department of Health & Human Services — NNDSS - Table II. Rubella to Salmonellosis - 2016. In this Table, provisional* cases of selected† notifiable diseases (≥1,000 cases reported during the preceding...

NNDSS - Table II. Rubella to Salmonellosis

Data.gov (United States)

U.S. Department of Health & Human Services — NNDSS - Table II. Rubella to Salmonellosis - 2015.In this Table, provisional cases of selected notifiable diseases (≥1,000 cases reported during the preceding year),...

Topical issues of vaccination and epidemiological surveillance over measles and rubella in Ukraine.

OpenAIRE

Daragan, G. M.; Krushinska, T. Yu.; Stepanskiy, D. O.; Demchyshyna, I. V.; Kolesnikova, I. P.

2018-01-01

The analysis of measles and rubella morbidity, the state of their vaccination in Ukraine was carried out. Despite decades of preventive vaccination, there is a 5-6 years’ cyclicity of measles epidemic process at present time. Measles morbidity increased 46.8 times in 2017 in comparison with 2016. Elevated rates of rubella epidemic morbidity were registered in 2004 and 2011. There was decrease of routine measles and rubella immunization coverage in the period from 2009 to 2016. Critically low ...

Measles and rubella elimination in the WHO Region for Europe: progress and challenges.

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O'Connor, P; Jankovic, D; Muscat, M; Ben-Mamou, M; Reef, S; Papania, M; Singh, S; Kaloumenos, T; Butler, R; Datta, S

2017-08-01

Globally measles remains one of the leading causes of death among young children even though a safe and cost-effective vaccine is available. The World Health Organization (WHO) European Region has seen a decline in measles and rubella cases in recent years. The recent outbreaks have primarily affected adolescents and young adults with no vaccination or an incomplete vaccination history. Eliminating measles and rubella is one of the top immunization priorities of the European Region as outlined in the European Vaccine Action Plan 2015-2020. Following the 2010 decision by the Member States in the Region to initiate the process of verifying elimination, the European Regional Verification Commission for Measles and Rubella Elimination (RVC) was established in 2011. The RVC meets every year to evaluate the status of measles and rubella elimination in the Region based on documentation submitted by each country's National Verification Committees. The verification process was however modified in late 2014 to assess the elimination status at the individual country level instead of at regional level. The WHO European Region has made substantial progress towards measles and rubella elimination over the past 5 years. The RVC's conclusion in 2016 that 70% and 66% of the 53 Member States in the Region had interrupted the endemic transmission of measles and rubella, respectively, by 2015 is a testament to this progress. Nevertheless, where measles and rubella remain endemic, challenges in vaccination service delivery and disease surveillance will need to be addressed through focused technical assistance from WHO and development partners. Copyright © 2017 European Society of Clinical Microbiology and Infectious Diseases. Published by Elsevier Ltd. All rights reserved.

Genomic identification of founding haplotypes reveals the history of the selfing species Capsella rubella.

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Yaniv Brandvain

Full Text Available The shift from outcrossing to self-fertilization is among the most common evolutionary transitions in flowering plants. Until recently, however, a genome-wide view of this transition has been obscured by both a dearth of appropriate data and the lack of appropriate population genomic methods to interpret such data. Here, we present a novel population genomic analysis detailing the origin of the selfing species, Capsella rubella, which recently split from its outcrossing sister, Capsella grandiflora. Due to the recency of the split, much of the variation within C. rubella is also found within C. grandiflora. We can therefore identify genomic regions where two C. rubella individuals have inherited the same or different segments of ancestral diversity (i.e. founding haplotypes present in C. rubella's founder(s. Based on this analysis, we show that C. rubella was founded by multiple individuals drawn from a diverse ancestral population closely related to extant C. grandiflora, that drift and selection have rapidly homogenized most of this ancestral variation since C. rubella's founding, and that little novel variation has accumulated within this time. Despite the extensive loss of ancestral variation, the approximately 25% of the genome for which two C. rubella individuals have inherited different founding haplotypes makes up roughly 90% of the genetic variation between them. To extend these findings, we develop a coalescent model that utilizes the inferred frequency of founding haplotypes and variation within founding haplotypes to estimate that C. rubella was founded by a potentially large number of individuals between 50 and 100 kya, and has subsequently experienced a twenty-fold reduction in its effective population size. As population genomic data from an increasing number of outcrossing/selfing pairs are generated, analyses like the one developed here will facilitate a fine-scaled view of the evolutionary and demographic impact of the

Radioimmunoprecipitation and immunoblot studies of antibodies to rubella virus in patients with chronic liver disease

International Nuclear Information System (INIS)

Kalvenes, M.B.; Kalland, K.H.; Haukenes, G.

1994-01-01

Patients with autoimmune chronic active hepatitis (AICAH) and some other chronic liver disorders often have very high titres of rubella HI antibodies. In the present study sera from 46 patients with chronic liver disease and controls were examined for rubella antibodies using radioimmunoprecipitation assay (RIPA) and Western blot. RIPA appeared to be more suitable than Western blot for the study of the individual antibody specificities provided that proteins (possibly actin) interfering with the resolution of the E2 glycoprotein band are identified. It was shown that patients with high rubella HI titres reacted strongly against the E1 glycoprotein and in general also against the core protein (C). Reactivity to the E2 glycoprotein was detected with all sera from patients with chronic liver disease but varied more in strength. Three patients with post-acute rubella showed very faint E2 reactivity, but strong E1 and C reactivities. Patients with primary biliary cirrhosis had normal HI titres and showed no increase in reactivity in RIPA. The present findings show that patients with chronic liver disease and high rubella HI antibody titres exhibit an enhanced specific antibody response to rubella virus structural proteins. (authors)

Molecular surveillance of measles and rubella in the WHO European Region: new challenges in the elimination phase.

Science.gov (United States)

Santibanez, S; Hübschen, J M; Ben Mamou, M C; Muscat, M; Brown, K E; Myers, R; Donoso Mantke, O; Zeichhardt, H; Brockmann, D; Shulga, S V; Muller, C P; O'Connor, P M; Mulders, M N; Mankertz, A

2017-08-01

The WHO European Region (EUR) has adopted the goal of eliminating measles and rubella but individual countries perform differently in achieving this goal. Measles virus spread across the EUR by mobile groups has recently led to large outbreaks in the insufficiently vaccinated resident population. As an instrument for monitoring the elimination process and verifying the interruption of endemic virus transmission, molecular surveillance has to provide valid and representative data. Irrespective of the country's specific situation, it is required to ensure the functionality of the laboratory surveillance that is supported by the WHO Global Measles and Rubella Laboratory Network. To investigate whether the molecular surveillance in the EUR is adequate for the challenges in the elimination phase, we addressed the quality assurance of molecular data, the continuity and intensity of molecular monitoring, and the analysis of transmission chains. Published articles, the molecular External Quality Assessment Programme of the WHO, the Centralized Information System for Infectious Diseases of the WHO EUR and the WHO Measles and Rubella Nucleotide Surveillance databases served as information sources. Molecular proficiency testing conducted by the WHO in 2016 has shown that the expertise for measles and rubella virus genotyping exists in all parts of the EUR. The analysis of surveillance data reported nationally to the WHO in 2013-2016 has revealed some countries with outbreaks but not sufficiently representative molecular data. Long-lasting supranational MV transmission chains were identified. A more systematic molecular monitoring and recording of the transmission pattern for the whole EUR could help to create a meaningful picture of the elimination process. Copyright © 2017 European Society of Clinical Microbiology and Infectious Diseases. All rights reserved.

Congenital rubella still a public health problem in Italy: analysis of national surveillance data from 2005 to 2013.

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Giambi, C; Filia, A; Rota, M C; Del Manso, M; Declich, S; Nacca, G; Rizzuto, E; Bella, A

2015-04-23

In accordance with the goal of the World Health Organization Regional Office for Europe, the Italian national measles and rubella elimination plan aims to reduce the incidence of congenital rubella cases to less than one case per 100,000 live births by the end of 2015. We report national surveillance data for congenital rubella and rubella in pregnancy from 2005 to 2013. A total of 75 congenital rubella infections were reported; the national annual mean incidence was 1.5/100,000 live births, including probable and confirmed cases according to European Union case definition. Two peaks occurred in 2008 and 2012 (5.0 and 3.6/100,000 respectively). Overall, 160 rubella infections in pregnancy were reported; 69/148 women were multiparous and 38/126 had had a rubella antibody test before pregnancy. Among reported cases, there were 62 infected newborns, 31 voluntary abortions, one stillbirth and one spontaneous abortion. A total of 24 newborns were unclassified and 14 women were lost to follow-up, so underestimation is likely. To improve follow-up of cases, systematic procedures for monitoring infected mothers and children were introduced in 2013. To prevent congenital rubella, antibody screening before pregnancy and vaccination of susceptible women, including post-partum and post-abortum vaccination, should be promoted. Population coverage of two doses of measles-mumps-rubella vaccination of ≥ 95% should be maintained and knowledge of health professionals improved.

Sociodemographic and economic characteristics of susceptibility to rubella among women preparing for pregnancy in rural China.

Science.gov (United States)

Liu, Fangchao; Zhang, Shikun; Liu, Jue; Wang, Qiaomei; Shen, Haiping; Zhang, Yiping; Liu, Min

2017-09-01

Infection with rubella virus during pregnancy can result in congenital defects and adverse pregnancy outcomes. The risk of rubella infection is greatly determined by the level of rubella antibodies in the serum. A survey of rubella antibody seronegativity rates was conducted in 780 000 women in rural China who were planning a pregnancy, in order to evaluate the herd susceptibility in different age groups and by high, middle, and low GDP per capita regions. In order to evaluate the herd susceptibility to rubella, a nationwide population-based study of rural Chinese women who were planning to have a baby and who were aged 21-49 years was instigated. As a part of the National Free Pre-conception Health Examination Project covering 29 provinces in 2012, a physical check-up program was provided to women who planned to become pregnant within the next 6 months. All medical data were from serological samples tested by ELISA, and the participants' immunity status was categorized based on levels of rubella antibodies. Economic data were also collected to explore the association between herd susceptibility and socioeconomic characteristics in the women of childbearing age. A total 264 306 of 782 293 recruited women preparing for pregnancy tested susceptible to rubella (33.79%). The seronegativity rate in women with a history of vaccination was significantly lower than that in women who had not received the vaccination or did not know their vaccination history (23.76%, 33.70%, and 35.68%, respectively). The seronegativity rates were 26.89%, 37.86%, and 32.61% in high, middle, and low GDP per capita areas, respectively. After stratified analysis and adjusting for other factors by multiple logistic regression, the lower seronegativity rates in women in high GDP per capita regions compared to women in middle and low GDP per capita regions remained in the different age groups and subgroups of immunization history. There is a clear difference in rubella-specific susceptibility

Modeling and Managing the Risks of Measles and Rubella: A Global Perspective, Part I.

Science.gov (United States)

Thompson, Kimberly M; Cochi, Stephen L

2016-07-01

Over the past 50 years, the use of vaccines led to significant decreases in the global burdens of measles and rubella, motivated at least in part by the successive development of global control and elimination targets. The Global Vaccine Action Plan (GVAP) includes specific targets for regional elimination of measles and rubella in five of six regions of the World Health Organization by 2020. Achieving the GVAP measles and rubella goals will require significant immunization efforts and associated financial investments and political commitments. Planning and budgeting for these efforts can benefit from learning some important lessons from the Global Polio Eradication Initiative (GPEI). Following an overview of the global context of measles and rubella risks and discussion of lessons learned from the GPEI, we introduce the contents of the special issue on modeling and managing the risks of measles and rubella. This introduction describes the synthesis of the literature available to support evidence-based model inputs to support the development of an integrated economic and dynamic disease transmission model to support global efforts to optimally manage these diseases globally using vaccines. © 2016 Society for Risk Analysis.

Rubella (German Measles, Three-Day Measles) Photos

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... Controls Cancel Submit Search The CDC Rubella (German Measles, Three-Day Measles) Note: Javascript is disabled or is not supported ... child's back. Distribution is similar to that of measles, but the lesions are less intensely red. This ...

Transitioning Lessons Learned and Assets of the Global Polio Eradication Initiative to Global and Regional Measles and Rubella Elimination.

Science.gov (United States)

Kretsinger, Katrina; Strebel, Peter; Kezaala, Robert; Goodson, James L

2017-07-01

The Global Polio Eradication Initiative has built an extensive infrastructure with capabilities and resources that should be transitioned to measles and rubella elimination efforts. Measles continues to be a major cause of child mortality globally, and rubella continues to be the leading infectious cause of birth defects. Measles and rubella eradication is feasible and cost saving. The obvious similarities in strategies between polio elimination and measles and rubella elimination include the use of an extensive surveillance and laboratory network, outbreak preparedness and response, extensive communications and social mobilization networks, and the need for periodic supplementary immunization activities. Polio staff and resources are already connected with those of measles and rubella, and transitioning existing capabilities to measles and rubella elimination efforts allows for optimized use of resources and the best opportunity to incorporate important lessons learned from polio eradication, and polio resources are concentrated in the countries with the highest burden of measles and rubella. Measles and rubella elimination strategies rely heavily on achieving and maintaining high vaccination coverage through the routine immunization activity infrastructure, thus creating synergies with immunization systems approaches, in what is termed a "diagonal approach." © The Author 2017. Published by Oxford University Press for the Infectious Diseases Society of America.

FUNDUS AUTOFLUORESCENCE IN RUBELLA RETINOPATHY: Correlation With Photoreceptor Structure and Function.

Science.gov (United States)

Bukowska, Danuta M; Wan, Sue Ling; Chew, Avenell L; Chelva, Enid; Tang, Ivy; Mackey, David A; Chen, Fred K

2017-01-01

To illustrate altered fundus autofluorescence in rubella retinopathy and to investigate their relationships with photoreceptor structure and function using multimodal imaging. The authors report four cases of rubella retinopathy aged 8, 33, 42, and 50 years. All patients had dilated clinical fundus examination; wide-field color photography; blue, green, and near-infrared autofluorescence imaging and spectral domain optical coherence tomography. Two patients also underwent microperimetry and adaptive optics imaging. En face optical coherence tomography, cone mosaic, and microperimetry were coregistered with autofluorescence images. The authors explored the structure-function correlation. All four patients had a "salt-and-pepper" appearance on dilated fundus examination and wide-field color photography. There were variable-sized patches of hypoautofluorescence on both blue and near-infrared excitation in all four patients. Wave-guiding cones were visible and retinal sensitivity was intact over these regions. There was no correlation between hypoautofluorescence and regions of attenuated ellipsoid and interdigitation zones. Hyperautofluorescent lesions were also noted and some of these were pseudo-vitelliform lesions. Patchy hypoautofluorescence on near-infrared excitation can be a feature of rubella retinopathy. This may be due to abnormal melanin production or loss of melanin within retinal pigment epithelium cells harboring persistent rubella virus infection. Preservation of the ellipsoid zone, wave-guiding cones, and retinal sensitivity within hypoautofluorescent lesions suggest that these retinal pigment epithelium changes have only mild impact on photoreceptor cell function.

Sentinel phenotype for rubella embryopathy: time-space distribution in Brazil

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Iêda Maria Orioli

2011-10-01

Full Text Available The dyad comprising eye anomalies and congenital heart defects in the same newborn has been proposed as the best sentinel phenotype for the early detection of rubella embryopathy. Time-space birth prevalence distributions of the eye-heart dyad were described in 36 Brazilian hospitals from the Latin-American Collaborative Study of Congenital Anomalies - ECLAMC network, for the period 1994-2008. Seventy dyad cases observed among 554,531 births showed seasonal variation (Χ2 = 5.84; p < 0.05, suggesting an environmental etiology, with an increase in cases in October-March and acrophase in December. The secular distribution of dyad prevalence rates was consistent with the distribution of rubella cases in Brazil, showing a decrease from 1994 to 2004, followed by an increase until 2008. Two geographic clusters were identified, one with high and the other with low dyad prevalence. In the high prevalence cluster, a secular increase was observed, starting in 1999, matching the rubella epidemic waves observed in Brazil in 1998-2000 and 2006.

[Study on the relation between Pi-deficiency pattern and metabolic syndrome in patients with polycystic ovarian syndrome].

Science.gov (United States)

Wang, Xing-Juan; Jin, Hua-Liang; Liu, Ying

2010-11-01

To evaluate the relation between Pi-deficiency syndrome (PDS) pattern and metabolic syndrome (MS) in patients with polycystic ovarian syndrome (PCOS), for exploring their internal pathologic mechanism. Among the 102 PCOS patients, 22 complicated with MS (PCOS-MS) and 80 not complicated with MS (PCOS-NMS), the Chinese medicine syndrome pattern was differentiated as PDS in 50 patients and non-PDS in 52. The clinical data, in terms of fasting blood glucose (FBG), fasting insulin (FINS), waistline, body weight (BW), stature, blood pressure (BP), etc. was collected and compared and the relation between data was analyzed. Levels of FINS and homeostasis model of assessment for insulin resistence index (HOMA-IR), in PCOS-MS patients were significantly higher than those in PCOS-NMS patients, also higher in patients of PDS pattern than those of non-PDS pattern (P 0.05). PCOS patients of PDS pattern are the high-risk population of MS, which might be related with the insulin resistance. So, early treatment of PCOS, especially on patients of PDS pattern, is of important significance for preventing the complication, as MS, of the disease.

Photodynamic inactivation of rubella virus enhances recombination with a latent virus of a baby hamster kidney cell line BHK21

International Nuclear Information System (INIS)

Yamamoto, Nobuto; Urade, Masahiro

1989-01-01

Rubella virus is very sensitive to photodynamic action. When tested with 1.2 x 10 -5 M toluidine blue and 8 W fluorescent lamp at a fluence of 11 W/m 2 , inactivation kinetics showed a linear single hit curve with a k value of 1.48 min -1 . Photodynamic inactivation of rubella virus greatly enhanced recombination with a latent virus (R-virus) of baby hamster kidney BHK21 cells. In contrast, no hybrids were detected in lysates of the cells infected with either UV-treated or untreated rubella virus. Therefore, hybrid viruses were readily detected only in lysates of BHK21 cells infected with photodynamically treated rubella virus. Photodynamic damage of rubella virus genomes generated a new hybrid type (hybrid type 3) in addition to a previously described type 2 hybrid (formerly designated as HPV-RV variant). Although both of these hybrid types carry the CF antigens of rubella virus, plaque forming ability of type 3 hybrid is neutralized neither by anti-rubella serum nor by anti-latent virus serum while type 2 hybrid is neutralized by anti-latent virus serum. (author)

Dietary patterns are associated with metabolic syndrome in adult Samoans.

Science.gov (United States)

DiBello, Julia R; McGarvey, Stephen T; Kraft, Peter; Goldberg, Robert; Campos, Hannia; Quested, Christine; Laumoli, Tuiasina Salamo; Baylin, Ana

2009-10-01

The prevalence of metabolic syndrome has reached epidemic levels in the Samoan Islands. In this cross-sectional study conducted in 2002-2003, dietary patterns were described among American Samoan (n = 723) and Samoan (n = 785) adults (> or =18 y) to identify neo-traditional and modern eating patterns and to relate these patterns to the presence of metabolic syndrome using Adult Treatment Panel III criteria. The neo-traditional dietary pattern, similar across both polities, was characterized by high intake of local foods, including crab/lobster, coconut products, and taro, and low intake of processed foods, including potato chips and soda. The modern pattern, also similar across both polities, was characterized by high intake of processed foods such as rice, potato chips, cake, and pancakes and low intake of local foods. The neo-traditional dietary pattern was associated with significantly higher serum HDL-cholesterol in American Samoa (P-trend = 0.05) and a decrease in abdominal circumference in American Samoa and Samoa (P-trend = 0.004 and 0.01, respectively). An inverse association was found with metabolic syndrome, although it did not reach significance (P = 0.23 in American Samoa; P = 0.13 in Samoa). The modern pattern was significantly positively associated with metabolic syndrome in Samoa (prevalence ratio = 1.21 for the fifth compared with first quintile; 95% CI: 0.93.1.57; P-trend = 0.05) and with increased serum triglyceride levels in both polities (P fiber, seafood, and coconut products may help to prevent growth in the prevalence of metabolic syndrome in the Samoan islands.

Monoclonal antibodies directed to E1 glycoprotein of rubella virus

International Nuclear Information System (INIS)

Umino, Y.; Sato, A.; Katow, S.; Matsuno, T.; Sugiura, A.

1985-01-01

We have prepared four monoclonal antibodies to rubella virus E1 glycoprotein. Three nonoverlapping antigenic sites were delineated on E1 protein by competitive binding assays. Antibodies binding to one site were characterized by high hemagglutination inhibition (HI) titer but poor neutralizing activity. The addition of antiglobulin conferred neutralizing activity. Antibodies directed to two other antigenic sites had modest hemolysis inhibition but little or no HI and neutralizing activities. The addition of antiglobulin markedly augmented HI activity but had little effect on neutralizing activity. Epitopes defined by three antibodies were conserved among four rubella virus strains examined. (Author)

Etiology of maculopapular rash in measles and rubella suspected patients from Belarus.

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Marina A Yermalovich

Full Text Available As a result of successful implementation of the measles/rubella elimination program, the etiology of more and more double negative cases remains elusive. The present study determined the role of different viruses as causative agents in measles or rubella suspected cases in Belarus. A total of 856 sera sent to the WHO National Laboratory between 2009 and 2011 were tested for specific IgM antibodies to measles virus (MV, rubella virus (RV and human parvovirus B19 (B19V. The negatives were further investigated for antibodies to enterovirus (EV and adenovirus (AdV. Children of up to 3 years were tested for IgM antibodies to human herpesvirus 6 (HHV6. A viral etiology was identified in 451 (52.7% cases, with 6.1% of the samples being positive for MV; 2.6% for RV; 26.2% for B19V; 9.7% for EV; 4.6% for AdV; and 3.6% for HHV6. Almost all measles and rubella cases occurred during limited outbreaks in 2011 and nearly all patients were at least 15 years old. B19V, EV and AdV infections were prevalent both in children and adults and were found throughout the 3 years. B19V occurred mainly in 3-10 years old children and 20-29 years old adults. EV infection was most common in children up to 6 years of age and AdV was confirmed mainly in 3-6 years old children. HHV6 infection was mostly detected in 6-11 months old infants. Laboratory investigation of measles/rubella suspected cases also for B19V, EV, AdV and HHV6 allows diagnosing more than half of all cases, thus strengthening rash/fever disease surveillance in Belarus.

Benefits and challenges in using sero-prevalence data to inform models for measles and rubella elimination.

NARCIS (Netherlands)

Winter, A K; Martinez, M E; Cutts, F T; Moss, W J; Ferrari, M; McKee, A; Lessler, J; Hayford, K; Wallinga, J; Metcalf, C J E

2018-01-01

Control efforts for measles and rubella are intensifying globally. It becomes increasingly important to identify and reach remaining susceptible populations as elimination is approached. Serological surveys for measles and rubella can potentially measure susceptibility directly, but their use

Prescribing patterns in premenstrual syndrome

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Jones Paul W

2002-06-01

Full Text Available Abstract Background Over 300 therapies have been proposed for premenstrual syndrome. To date there has been only one survey conducted in the UK of PMS treatments prescribed by GPs, a questionnaire-based study by the National Association of Premenstrual Syndrome in 1989. Since then, selective serotonin re-uptake inhibitors have been licensed for severe PMS/PMDD, and governmental recommendations to reduce the dosage of vitamin B6 (the first choice over-the-counter treatment for many women with PMS have been made. This study investigates the annual rates of diagnoses and prescribing patterns for premenstrual syndrome (1993–1998 within a computerised general practitioner database. Methods Retrospective survey of prescribing data for premenstrual syndrome between 1993–1998 using the General Practice Research Database for the West Midlands Region which contains information on 282,600 female patients Results Overall the proportion of women with a prescription-linked diagnosis of premenstrual syndrome has halved over the five years. Progestogens including progesterone were the most commonly recorded treatment for premenstrual syndrome during the whole study period accounting for over 40% of all prescriptions. Selective serotonin-reuptake inhibitors accounted for only 2% of the prescriptions in 1993 but rose to over 16% by 1998, becoming the second most commonly recorded treatment. Vitamin B6 accounted for 22% of the prescriptions in 1993 but dropped markedly between 1997 and 1998 to 11%. Conclusions This study shows a yearly decrease in the number of prescriptions linked to diagnoses for premenstrual syndrome. Progestogens including progesterone, is the most widely prescribed treatment for premenstrual syndrome despite the lack of evidence demonstrating their efficacy.

Effect of vaccinations on seizure risk and disease course in Dravet syndrome

NARCIS (Netherlands)

Verbeek, N.E.; van der Maas, N.A.T.; Sonsma, A.C.M.; Ippel, E.; Bondt, P.E.V.D.; Hagebeuk, E.; Jansen, F.E.; Geesink, H.H.; Braun, K.P.; de Louw, A.; Augustijn, P.B.; Neuteboom, R.F.; Schieving, J.H.; Stroink, H.; Vermeulen, R.J.; Nicolai, J.; Brouwer, O.F.; van Kempen, M.; de Kovel, C.G.F.; Kemmeren, J.M.; Koeleman, B.P.C.; Knoers, N.V.; Lindhout, D.; Gunning, W.B.; Brilstra, E.H.

2015-01-01

Objective: To study the effect of vaccination-associated seizure onset on disease course and estimate the risk of subsequent seizures after infant pertussis combination and measles, mumps, and rubella (MMR) vaccinations in Dravet syndrome (DS). Methods: We retrospectively analyzed data from hospital

Dietary patterns of Korean adults and the prevalence of metabolic syndrome: a cross-sectional study.

Science.gov (United States)

Woo, Hae Dong; Shin, Aesun; Kim, Jeongseon

2014-01-01

The prevalence of metabolic syndrome has been increasing in Korea and has been associated with dietary habits. The aim of our study was to identify the relationship between dietary patterns and the prevalence of metabolic syndrome. Using a validated food frequency questionnaire, we employed a cross-sectional design to assess the dietary intake of 1257 Korean adults aged 31 to 70 years. To determine the participants' dietary patterns, we considered 37 predefined food groups in principal components analysis. Metabolic syndrome was defined according to the National Cholesterol Education Program Adult Treatment Panel III. The abdominal obesity criterion was modified using Asian guidelines. Prevalence ratios and 95% confidence intervals for the metabolic syndrome were calculated across the quartiles of dietary pattern scores using log binomial regression models. The covariates used in the model were age, sex, total energy intake, tobacco intake, alcohol consumption, and physical activity. The prevalence of metabolic syndrome was 19.8% in men and 14.1% in women. The PCA identified three distinct dietary patterns: the 'traditional' pattern, the 'meat' pattern, and the 'snack' pattern. There was an association of increasing waist circumference and body mass index with increasing score in the meat dietary pattern. The multivariate-adjusted prevalence ratio of metabolic syndrome for the highest quartile of the meat pattern in comparison with the lowest quartile was 1.47 (95% CI: 1.00-2.15, p for trend = 0.016). A positive association between the prevalence of metabolic syndrome and the dietary pattern score was found only for men with the meat dietary pattern (2.15, 95% CI: 1.10-4.21, p for trend = 0.005). The traditional pattern and the snack pattern were not associated with an increased prevalence of metabolic syndrome. The meat dietary pattern was associated with a higher prevalence of metabolic syndrome in Korean male adults.

Dietary patterns of Korean adults and the prevalence of metabolic syndrome: a cross-sectional study.

Directory of Open Access Journals (Sweden)

Hae Dong Woo

Full Text Available The prevalence of metabolic syndrome has been increasing in Korea and has been associated with dietary habits. The aim of our study was to identify the relationship between dietary patterns and the prevalence of metabolic syndrome. Using a validated food frequency questionnaire, we employed a cross-sectional design to assess the dietary intake of 1257 Korean adults aged 31 to 70 years. To determine the participants' dietary patterns, we considered 37 predefined food groups in principal components analysis. Metabolic syndrome was defined according to the National Cholesterol Education Program Adult Treatment Panel III. The abdominal obesity criterion was modified using Asian guidelines. Prevalence ratios and 95% confidence intervals for the metabolic syndrome were calculated across the quartiles of dietary pattern scores using log binomial regression models. The covariates used in the model were age, sex, total energy intake, tobacco intake, alcohol consumption, and physical activity. The prevalence of metabolic syndrome was 19.8% in men and 14.1% in women. The PCA identified three distinct dietary patterns: the 'traditional' pattern, the 'meat' pattern, and the 'snack' pattern. There was an association of increasing waist circumference and body mass index with increasing score in the meat dietary pattern. The multivariate-adjusted prevalence ratio of metabolic syndrome for the highest quartile of the meat pattern in comparison with the lowest quartile was 1.47 (95% CI: 1.00-2.15, p for trend = 0.016. A positive association between the prevalence of metabolic syndrome and the dietary pattern score was found only for men with the meat dietary pattern (2.15, 95% CI: 1.10-4.21, p for trend = 0.005. The traditional pattern and the snack pattern were not associated with an increased prevalence of metabolic syndrome. The meat dietary pattern was associated with a higher prevalence of metabolic syndrome in Korean male adults.

JST Thesaurus Headwords and Synonyms: rubella virus [MeCab user dictionary for science technology term[Archive

Lifescience Database Archive (English)

Full Text Available MeCab user dictionary for science technology term rubella virus 名詞 一般 * * * * 風疹ウイル...ス フウシンウイルス フーシンウイルス Thesaurus2015 200906068435750800 C LS07 UNKNOWN_2 rubella virus

Premorbid Anomalies and Risk of Schizophrenia and Depressive Disorders in a Birth Cohort Exposed to Prenatal Rubella

Science.gov (United States)

Penner, Justin D.; Brown, Alan S.

2007-01-01

In a birth cohort prenatally exposed to rubella, we assessed whether prospectively documented premorbid neuromotor dysfunction, mannerisms, deviant behaviors, and temperament during childhood and adolescence were impaired in cases who developed depressive disorder (DD) relative to rubella-exposed controls and cases who developed schizophrenia…

ORIGINAL ARTICLES Rubella in South Africa: An impending Greek ...

African Journals Online (AJOL)

2009-07-02

Jul 2, 2009 ... concern is infection of susceptible women in the first 16 weeks of pregnancy. ... To assess the extent of the immunity gap to rubella by testing for ... greater in the private sector specimens compared with the public sector ...

Survey of rubella knowledge and acceptability of rubella vaccination among Brazilian adults prior to mass vaccination Encuesta sobre el conocimiento de la rubéola y la aceptabilidad de la vacunación antirrubeólica en los adultos brasileños antes de una campaña de vacunación masiva

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Juliana Costa Vieira

2011-10-01

Full Text Available OBJECTIVE: Evaluate knowledge of rubella and acceptability of vaccination and identify sources of health information among brazilian adults to inform communication strategies for a national vaccination campaign to eliminate rubella and congenital rubella syndrome (CRS. METHODS: From 5-8 July 2008 a qualitative telephone survey was conducted among a nonprobabilistic sample of brazilian adults 18 to 65 years of age (n = 1 023 from all five geographic regions of Brazil to measure knowledge of rubella and willingness to receive the vaccine and to identify sources of health information. Frequencies of responses were stratified by respondents' sex, age, education, and income. RESULTS: Although 69.9% of respondents said they knew what rubella was, actual knowledge of the disease was limited, with only 29.9% answering affirmatively when asked if they would recognize symptoms of rubella infection. Self-reported knowledge increased with increasing age, education, and income, and was higher among women than men. A total of 94.5% of the respondents expressed willingness to be vaccinated for rubella elimination. The most frequently mentioned sources of health information were television and doctors. CONCLUSIONS: Despite limited knowledge of rubella, brazilian adults expressed willingness to be vaccinated for disease elimination.OBJETIVO: Evaluar el conocimiento de la rubéola y la aceptabilidad de la vacunación antirrubeólica, y determinar las fuentes de información sanitaria en los adultos brasileños, con objeto de fundamentar las estrategias de comunicación de una campaña nacional de vacunación dirigida a eliminar la rubéola y el síndrome de rubéola congénita (SRC. MÉTODOS: Del 5 al 8 de julio del 2008 se llevó a cabo una encuesta telefónica cualitativa en una muestra no probabilística de adultos brasileños de 18 a 65 años de edad (n = 1 023 de las cinco regiones geográficas del Brasil, con objeto de evaluar el conocimiento de la rub

Pattern Recognition of the Multiple Sclerosis Syndrome

Science.gov (United States)

Stewart, Renee; Healey, Kathleen M.

2017-01-01

During recent decades, the autoimmune disease neuromyelitis optica spectrum disorder (NMOSD), once broadly classified under the umbrella of multiple sclerosis (MS), has been extended to include autoimmune inflammatory conditions of the central nervous system (CNS), which are now diagnosable with serum serological tests. These antibody-mediated inflammatory diseases of the CNS share a clinical presentation to MS. A number of practical learning points emerge in this review, which is geared toward the pattern recognition of optic neuritis, transverse myelitis, brainstem/cerebellar and hemispheric tumefactive demyelinating lesion (TDL)-associated MS, aquaporin-4-antibody and myelin oligodendrocyte glycoprotein (MOG)-antibody NMOSD, overlap syndrome, and some yet-to-be-defined/classified demyelinating disease, all unspecifically labeled under MS syndrome. The goal of this review is to increase clinicians’ awareness of the clinical nuances of the autoimmune conditions for MS and NMSOD, and to highlight highly suggestive patterns of clinical, paraclinical or imaging presentations in order to improve differentiation. With overlay in clinical manifestations between MS and NMOSD, magnetic resonance imaging (MRI) of the brain, orbits and spinal cord, serology, and most importantly, high index of suspicion based on pattern recognition, will help lead to the final diagnosis. PMID:29064441

[What EIA assay levels correspond to rubella antibody HI assay titer?].

Science.gov (United States)

Terada, Kihei; Inoue, Mika; Wakabayashi, Tokio; Ogita, Satoko; Ouchi, Kazunobu

2009-01-01

In 2004, a Japanese-government-supported research group recommended that women without rubella antibody or with low titers or = 15 IU/mL), 98.1% (positive > or = 10 IU/mL), and 93.4%, using the kit from Dade Behring Co. Between HI titers and EIA-IgG measured with the Denka kit, the coefficient index was 0.715 (p or = 4.0) from Denka, and to 30 IU/mL with the kit from Dade. EIA-IgG levels > or = 10 IU/mL are considered globally as protective antibody titers, meaning that the Japanese recommendation of < or = 1:16 for vaccination is too loose. Japanese EIA kit values for the rubella antibody should also be expressed in IU/mL using the global standard.

IMPROVEMENT OF THE QUALITY CONTROL OF ELISA TESTING FOR THE LABORATORY CONFIRMATION OF MEASLES AND RUBELLA INFECTIONS AT THE STAGE OF THE MEASLES/ RUBELLA ELIMINATION PROGRAM

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T. A. Mamaeva

2017-01-01

Full Text Available To estimate ELISA serological studies results of IgM and IgG specific Measles and Rubella Viruses (MRV antibodies detection the “in-house” laboratory controls (ILC including the specific markers of MRV infections were for the first time commercially prepared by the Vector Best PLC (Russia: “Measles-IgM, ser.1”, “Measles-IgM, ser.2”, “Rubella-IgM”, Measles-IgG” and “Rubella-IgG”. This task was realized under the special Executive Order of the Government of Russia N 523-r, 2014, April, 4. According to passport characteristics ILC samples are the lyophilized human sera, inactivated by heating (1 hour at 56°C and stabilized by the mixture of sucrose (5% and ProClin-3000 as the conservation agent. Samples are free of HBs Ag, anti-HVC, T.Pallidum, HIV-1/2, HIV-1Ag р24.The aim of the study was to evaluate the possibility of using the ILC for detection of the MRV IgM and IgG antibodies by ELISA with commercial ELISA kits used in Russia and CIS countries. In the process of detecting the specific activity of “Measles-IgM, ser.1”, “Measles-IgM, ser.2” and “Rubella-IgM” by ELISA kits of different formats (Vector Best, EcoLab and Siemens Companies the statistically different results were received (p < 0.05. The optical density (OD values of IgM in the “Measles-IgM, ser.1” and “Measles-IgM, ser.2” ILC, obtained by ELISA “VectoMeasles IgM” (Vector Best were significantly higher than those obtained by ELISA IgEnzygnost®Anti-MeaslesVirus/IgМ. These values consisted for the ser. 1–1.33±0.02 о.u. vs. 0.18±0.01 о.u. (р < 0.05 and for the ser. 2–2.83±0.03 о.u. vs. 0.7±0.02 о.е. (р < 0.05 in the Vector Best and Siemens ELISA kits correspondently. In the “Rubella-IgM” ILC the OD values of the specific IgM by the “ELISA-Rubella IgM” EcoLab were also higher than those obtained by IgEnzygnost®Anti-RubellaVirus/IgМ ELISA kit. These values consisted 2.92±0.04 о.u. vs. 0.88±0.03 �

Separation of hemagglutination-inhibiting immunoglobulin M antibody to rubella virus in human serum by high-performance liquid chromatography.

OpenAIRE

Kobayashi, N; Suzuki, M; Nakagawa, T; Matumoto, M

1986-01-01

High-performance liquid chromatography was successfully used to separate hemagglutination-inhibiting immunoglobulin M (IgM) rubella virus antibody from IgG rubella virus antibody in human serum. The fractionation by high-performance liquid chromatography was as effective as sucrose density gradient centrifugation in separating IgM antibody from IgG antibody.

Vaccine-preventable diseases in pediatric patients: a review of measles, mumps, rubella, and varicella [digest].

Science.gov (United States)

Levine, Deborah A; Pade, Kathryn H

2016-12-22

Vaccine-preventable diseases such as measles, mumps, rubella, and varicella continue to plague children and adults worldwide. Although public health programs have helped decrease the prevalence and sequelae of these diseases, outbreaks still occur. To limit the spread of these diseases, emergency clinicians must be able to readily identify the characteristic presentations of the rashes associated with measles, rubella, and varicella, as well as the common presenting features associated with mumps. Diagnostic laboratory studies are not usually necessary, as a complete history and physical examination usually lead to an accurate diagnosis. Treatment for these vaccine-preventable diseases usually consists of supportive care, but, in some cases, severe complications and death may occur. This issue provides a review of the clinical features, differential diagnoses, potential complications, and treatment options for measles, mumps, rubella, and varicella. [Points & Pearls is a digest of Pediatric Emergency Medicine Practice].

VISUAL OUTCOME IN CONGENITAL RUBELLA CATARACT MANAGED IN A TERTIARY EYE CARE CENTRE

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Chitra S

2016-12-01

Full Text Available BACKGROUND The aim of the study is to analyse the visual outcome in congenital rubella cataract. MATERIALS AND METHODS It is an analytical prospective study. RESULTS Defective vision and white reflex were the most common presenting complaint. Most of the patients were positive for IgG only in high titres. Comparing the visual acuity preoperatively and postoperatively, there was statistically significant improvement in vision. CONCLUSION Children with congenital rubella cataract should be operated as early as possible under topical antibiotics coverage. Postoperative should be properly treated with intensive cycloplegics and topical steroids. Proper follow up and visual rehabilitation should be done.

Arthritis dermatitis syndrome in children

International Nuclear Information System (INIS)

Velasquez Mendez, Monica Patricia; Ramirez Gomez, Luis Alberto

2004-01-01

The pediatric rheumatology is a medical specialization with many areas under developed. The prevalence, pathophysiology and form of presentation of the pediatric rheumatic disease are different of adults. The skin compromise in many pediatric rheumatic diseases is a helping sing for diagnosis. The arthritis-dermatitis syndrome can be the first manifestation of many diseases as infections, tumors and endocrine diseases, but in pediatric age the immunologic and infections diseases are really important. Among infections diseases, virus (parvovirus, rubella, HIV) and bacteria (gonococcus, meningoccus) are the most Important. Within the group of autoimmune diseases the vasculitis such as Henoch-Schonlein purpura and Kawasaki disease are among the more prevalent autoimmune disease. This is a general review about arthritis-dermatitis syndrome in pediatric age

Sero-prevalence of IgM antibody to Rubella Virus in pregnant ...

African Journals Online (AJOL)

Arun Kumar Agnihotri

2014-09-05

Sep 5, 2014 ... Rubella is a contagious viral infection, which in pregnant women leads to infection of a developing fetus .... health care administrators and providers in. Nigeria to initiate a ... oral consent was obtained from both pregnant and ...

Association of polycystic ovary syndrome and a non-dipping blood pressure pattern in young women

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Ayse Kargili

2010-01-01

Full Text Available OBJECTIVE: The association between polycystic ovarian syndrome and increased cardiovascular disease risk is still a controversial issue. In light of data documenting some common pathways or common end-points, the present study was undertaken to determine whether there is a relationship between sleep blood pressure pattern disturbances and polycystic ovarian syndrome in young women. METHOD: The daytime and nighttime ambulatory blood pressures (BPs were determined for each subject, according to the actual waking and sleeping times recorded in their individual diaries, in this cross-sectional study. RESULTS: The study group comprised 168 women (mean age: 25.7±5.5 diagnosed with polycystic ovarian syndrome, while the control group included 52 age- and BMI-matched healthy subjects (mean age: 26.1±5.4. When nocturnal BP declines very little or not at all, with the BP falling less than 10% during sleep compared with waking values, this pattern is classified as a non-dipping BP pattern. However, the non-dipping pattern of BP changes was significantly more common in polycystic ovarian syndrome patients compared to the control group (p<0.01. The prevalence of a non-dipping BP pattern was 43.4% (73 patients in polycystic ovarian syndrome patients and 3.9% (2 patients in the control group. CONCLUSION: Our cross-sectional study revealed that a non-dipping BP pattern is highly prevalent in polycystic ovarian syndrome patients, even if they are young and non-obese.

Antibody responses to Hepatitis B and measles-mumps-rubella vaccines in children who received chemotherapy for acute lymphoblastic leukemia

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Simone Santana Viana

2012-01-01

Full Text Available OBJECTIVE: To evaluate viral vaccine antibody levels in children with acute lymphoblastic leukemia after chemotherapy and after vaccine booster doses. METHODS: Antibody levels against hepatitis B, rubella, measles and mumps vaccine antigens were evaluated in 33 children after completing chemotherapy (before and after vaccine booster doses and the results were compared to the data of 33 healthy children matched for gender, age and social class. RESULTS: After chemotherapy, 75.9%, 67.9%, 59.3% and 51.7% of the patients showed low antibody titers that would be unlikely to protect against exposure to measles, rubella, hepatitis B and mumps, respectively. After receiving a vaccine booster dose for these antigens the patients had high antibody levels consistent with potential protection against measles, mumps and hepatitis B, but not against rubella. CONCLUSION: Extra doses of measles-mumps-rubella plus hepatitis B vaccines are recommended in acute lymphoblastic leukemia patients submitted to treatment after hematologic recovery. After this, viral vaccine antibody levels should be verified to define the individual's protective status.

[The active offering of measles, rubella and mumps vaccine in new mothers: the experience of health facilities in one of the Local Health Unit of Rome, Lazio, Italy].

Science.gov (United States)

Santoro, Viviana; Pettinicchio, Valentina; Lancia, Andreina; Vazzoler, Cristiana; De Luca, Francesca; Franco, Elisabetta

2016-01-01

Rubella is a contagious disease that can be very serious, especially in unvaccinated pregnant women. The best way to be protected is getting vaccinated: MMR vaccine is very effective at protecting people against measles, mumps, and rubella, and preventing the complications caused by these diseases. According to PASSI 2012-2015 (the Italian behavioral risk factor surveillance system) in the territory of ex ASL Roma C only 56% of women between 18 and 49 years were immunized against rubella, thanks to vaccination (34%) or past infection detected by rubeotest (22%); 2% was susceptible and 42% of respondents did not know their immune status against rubella. The Italian National Plan for the Elimination of Measles and Congenital Rubella (PNEMoRc) 2010-15 had the aim to reduce the prevalence of rubella susceptibility in young women (<5%), to reduce the prevalence of congenital rubella and to increase MMR vaccination coverage. This plan suggested to promote actions to spread correct information about MMR vaccine in the general population and healthcare workers and to offer this vaccine to susceptible women during every appropriate contact with the Family planning clinics. In order to ensure and monitor these recommendations, a recovery procedure for MMR vaccine was activated in 2015 for women who contacted the health facilities for their first child vaccination. A form was developed in order to collect information about women's immune status against rubella and measles. According to this tool all women who stated they had never been vaccinated for rubella or MMR and/or did not remember vaccination and/or had never had a rubeotest were considered susceptible to rubella. Women susceptible to rubella were invited to undergo vaccination. Data collected during one year activity were recorded and analyzed with Epinfo 7.0 software. We collected 1801 correctly filled forms; 88.6% (1595) of women were evaluated immune to rubella and 11.4% susceptible. The prevalence of

Analysis of the association opportunistic infections with c-reactive protein focus toxoplasma, cytomegalovirus, rubella,and hepatitis in human immunodeficiency virus

Science.gov (United States)

Khadijah, K. H.; Ferica, K.; Katu, S.; Halim, R.; Mubin, A. H.

2018-03-01

Opportunistic infections occur more often severe in people with HIV. C-reactive protein is known to have a prognostic value in HIV and those with HIV-related opportunistic infections. High level of CRP will increase therisk of infection toxoplasma, CMV, rubella,and hepatitis in HIV.Analyzing association of opportunistic infections toxoplasma, CMV, rubella,and hepatitis with the level of CRP in HIV, a cross-sectional analytic study wasduring January-July 2017 on both outpatientand inpatient HIV subjects at Wahidin Sudirohusodo Hospital, Makassar. Each HIV patient is categorized into agroup of opportunistic infections: toxoplasma, CMV, rubella, hepatitis. CRP levels will be assessed in each group, defined by normal values 0.05).

Safety of measles, mumps and rubella vaccination in juvenile idiopathic arthritis

NARCIS (Netherlands)

Heijstek, Marloes W; Pileggi, Gecilmara C S; Zonneveld-Huijssoon, Evelien; Armbrust, Wineke; Hoppenreijs, Esther P A H; Uiterwaal, Cuno S P M; Kuis, Wietse; Wulffraat, Nico M

2007-01-01

Objective: To assess the effect of measles, mumps and rubella (MMR) vaccination on disease activity in children with juvenile idiopathic arthritis (JIA). Methods: A retrospective observational multicentre cohort study was performed in 314 patients with JIA, born between 1989 and 1996. Disease

Comparison of Rubazyme-M and MACRIA for the detection of rubella-specific IgM

Energy Technology Data Exchange (ETDEWEB)

Best, J.M.; Palmer, S.J.; Morgan-Capner, P.; Hodgson, J. (Saint Thomas' Hospital, London (UK))

1984-02-01

One hundred and eighty-six carefully selected sera were tested for rubella-specific IgM by Rubazyme-M (Abbott Diagnostics) and an M-antibody capture radioimmunoassay (MACRIA). Eleven of these sera were from cases of infectious mononucleosis, six of which gave positive results in MACRIA, while one gave a positive result in Rubazyme-M. Of the remaining 175 sera, 158 gave concordant results whilst 17 sera gave discordant results; these 17 were also tested by serum fractionation. Problems were encountered with all assay systems used. It is therefore recommended that the results of all tests for rubella-specific IgM should be interpreted with caution.

Seizure and EEG patterns in Wolf-Hirschhorn (4p-) syndrome.

Science.gov (United States)

Battaglia, Agatino; Carey, John C

2005-08-01

Wolf-Hirschhorn syndrome (WHS) is a well-characterized chromosomal disorder that occurs due to partial deletion of the short arm of chromosome 4 (4p-). Although, about 300 cases have been reported to date, limited data are available on electroclinical findings. Information given to parents at the time of diagnosis tends to be skewed to the extreme negative. To delineate the natural history of seizures and EEG patterns in WHS, and obtain better information on diagnosis or outcome in a clinical setting, we reviewed the available literature on electroclinical findings of WHS. 4p- syndrome is characterized by distinctive seizure and EEG patterns that facilitate the early diagnosis and management of such patients.

Macular pattern dystrophy and homonymous hemianopia in MELAS syndrome.

Science.gov (United States)

Kamal-Salah, Radua; Baquero-Aranda, Isabel; Grana-Pérez, María Del Mar; García-Campos, Jose Manuel

2015-03-12

We report an unusual association of a pattern dystrophy of the retinal pigment epithelium and homonymous hemianopia in a woman diagnosed with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes syndrome. 2015 BMJ Publishing Group Ltd.

Mutual interference on the immune response to yellow fever vaccine and a combined vaccine against measles, mumps and rubella.

Science.gov (United States)

Nascimento Silva, Juliana Romualdo; Camacho, Luiz Antonio B; Siqueira, Marilda M; Freire, Marcos de Silva; Castro, Yvone P; Maia, Maria de Lourdes S; Yamamura, Anna Maya Y; Martins, Reinaldo M; Leal, Maria de Luz F

2011-08-26

A randomized trial was conducted to assess the immunogenicity and reactogenicity of yellow fever vaccines (YFV) given either simultaneously in separate injections, or 30 days or more after a combined measles-mumps-rubella (MMR) vaccine. Volunteers were also randomized to YFV produced from 17DD and WHO-17D-213 substrains. The study group comprised 1769 healthy 12-month-old children brought to health care centers in Brasilia for routine vaccination. The reactogenicity was of the type and frequency expected for the vaccines and no severe adverse event was associated to either vaccine. Seroconversion and seropositivity 30 days or more after vaccination against yellow fever was similar across groups defined by YFV substrain. Subjects injected YFV and MMR simultaneously had lower seroconversion rates--90% for rubella, 70% for yellow fever and 61% for mumps--compared with those vaccinated 30 days apart--97% for rubella, 87% for yellow fever and 71% for mumps. Seroconversion rates for measles were higher than 98% in both comparison groups. Geometric mean titers for rubella and for yellow fever were approximately three times higher among those who got the vaccines 30 days apart. For measles and mumps antibodies GMTs were similar across groups. MMR's interference in immune response of YFV and YFV's interference in immune response of rubella and mumps components of MMR had never been reported before but are consistent with previous observations from other live vaccines. These results may affect the recommendations regarding primary vaccination with yellow fever vaccine and MMR. Copyright © 2011 Elsevier Ltd. All rights reserved.

GIS-supported analysis of global patterns of anthropogenic forest degradation. A sectoral application of the syndrome concept

International Nuclear Information System (INIS)

Cassel-Gintz, M.

2001-06-01

The geographical analysis of a Syndrome is performed in several steps integrating GIS with concepts of fuzzy logic and qualitative reasoning. In the first step a syndrome specific network of interactions is formulated by analysing case studies, theories and expert assessments. Based on this systemic representation the natural and socio-economic conditions under which the syndrome specific mechanisms can be active are identified. This evaluation is called the disposition of a region towards a specific Syndrome. The resulting indicator can be used as an early warning indicator for the possible germination of a non-sustainable development. Based on the constituting elements of the Syndrome, a complex indicator for the intensity of the active Syndrome is derived in the next step of the analysis. This indicator assesses the critical states in the dynamical evolution of the non-sustainable patterns of civilisation nature interaction. Complete Syndrome analyses are performed for the main Syndromes of deforestation. The resulting spatial distribution of the combined dispositions and intensities of the different Syndromes present a unique global assessment describing the current damage and future regional threats to forests by their underlying global cause-effect patterns of civilisation-nature interaction. Specially the assessment of the threat by coupling of momentarily active and potentially active cause-effect patterns provides a previously not achieved systematic insight into the complex interaction of different patterns of global deforestation and forest degradation. (orig.)

A comparison of Rubazyme-M and MACRIA for the detection of rubella-specific IgM

International Nuclear Information System (INIS)

Best, J.M.; Palmer, S.J.; Morgan-Capner, P.; Hodgson, J.

1984-01-01

One hundred and eighty-six carefully selected sera were tested for rubella-specific IgM by Rubazyme-M (Abbott Diagnostics) and an M-antibody capture radioimmunoassay (MACRIA). Eleven of these sera were from cases of infectious mononucleosis, six of which gave positive results in MACRIA, while one gave a positive result in Rubazyme-M. Of the remaining 175 sera, 158 gave concordant results whilst 17 sera gave discordant results; these 17 were also tested by serum fractionation. Problems were encountered with all assay systems used. It is therefore recommended that the results of all tests for rubella-specific IgM should be interpreted with caution. (Auth.)

Do HIV-positive adult immigrants need to be screened for measles-mumps-rubella and varicella zoster virus immunization?

Science.gov (United States)

Llenas-García, Jara; Rubio, Rafael; Hernando, Asunción; Arrazola, Pilar; Pulido, Federico

2013-08-01

A systematic screening for measles, mumps, rubella (MMR) and varicella zoster virus (VZV) in HIV-positive adult immigrants in Spain was evaluated, and factors associated with MMR and VZV vaccines' indication were studied. Every HIV-positive immigrant was tested for VZV and MMR-IgG. MMR vaccine was indicated to patients with lymphocytes CD4+ >200 cells/mm³ and a negative measles-IgG, a negative mumps-IgG and/or a negative rubella-IgG. VZV vaccine was indicated to every VZV-IgG negative patient with CD4+ >400 cells/mm³. In total, 289 patients were screened; seroprevalence was 95.2%, 92.2%, 70.3% and 89.3% for VZV, measles, mumps and rubella IgG, respectively. Having a negative VZV-IgG was statistically associated with coming from sub-Saharan Africa (prevalence ratio [PR]: 6.52; 95% CI: 1.71-24.84; p=0.006), while having secondary education was a protective factor (PR: 0.25; 95% CI: 0.07-0.97; p=0.045). Fourteen patients (4.8%) had indication of VZV vaccine; vaccination was feasible in 21.4% of them at first visit. Eighty-one patients (29.7%) had indication of MMR vaccine, most of them due to mumps-IgG negative (53.1%) or rubella-IgG negative (24.7%). Age Especial attention should be given to immigrant women of childbearing age.

Pattern of Presentation of Multiple Organ Dysfunction Syndrome in ...

African Journals Online (AJOL)

Background: Multiple organ dysfunction syndrome is the sequential failure of several organ systems after a trigger event, like sepsis, massive transfusions, burns, trauma and cardiogenic shock. Aim and Objectives- The pattern of presentation of multiple organ dysfunction and the risk factors associated with multiple organ ...

Multimorbidity Patterns in Hospitalized Older Patients: Associations among Chronic Diseases and Geriatric Syndromes.

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Mercedes Clerencia-Sierra

Full Text Available The clinical status of older individuals with multimorbidity can be further complicated by concomitant geriatric syndromes. This study explores multimorbidity patterns, encompassing both chronic diseases and geriatric syndromes, in geriatric patients attended in an acute hospital setting.Retrospective observational study.Unit of Social and Clinical Assessment (UVSS, Miguel Servet University Hospital (HUMS, Zaragoza (Spain. Year, 2011.A total of 924 hospitalized patients aged 65 years or older.Data on patients' clinical, functional, cognitive and social statuses were gathered through comprehensive geriatric assessments. To identify diseases and/or geriatric syndromes that cluster into patterns, an exploratory factor analysis was applied, stratifying by sex. The factors can be interpreted as multimorbidity patterns, i.e., diseases non-randomly associated with each other within the study population. The resulting patterns were clinically assessed by several physicians.The mean age of the study population was 82.1 years (SD 7.2. Multimorbidity burden was lower in men under 80 years, but increased in those over 80. Immobility, urinary incontinence, hypertension, falls, dementia, cognitive decline, diabetes and arrhythmia were among the 10 most frequent health problems in both sexes, with prevalence rates above 20%. Four multimorbidity patterns were identified that were present in both sexes: Cardiovascular, Induced Dependency, Falls and Osteoarticular. The number of conditions comprising these patterns was similar in men and women.The existence of specific multimorbidity patterns in geriatric patients, such as the Induced Dependency and Falls patterns, may facilitate the early detection of vulnerability to stressors, thus helping to avoid negative health outcomes such as functional disability.

22q13.3 Deletion Syndrome: An Underdiagnosed Cause of Mental Retardation

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ilknur Erol

2015-03-01

Full Text Available Phelan-McDermid syndrome, also known as 22q13.3 deletion syndrome, is characterized by global developmental delay, absent or delayed speech, generalized hypotonia, and minor physical anomalies. The deletion typically involves the terminal band 22q13.3 and has been associated with both familial and de-novo translocations. We report the case of an 11-year-old Turkish girl with 22q13.3 deletion syndrome presenting with repeated seizures during the course of a rubella infection. We also review the clinical features of 22q13.3 deletion syndrome and emphasize the importance of considering a rare microdeletion syndrome for idiopathic mental retardation when results of a routine karyotype analysis are normal. To the best of our knowledge, this is the first reported case of a Turkish patient with isolated 22q13.3 deletion syndrome. [Cukurova Med J 2015; 40(1.000: 169-173

Prevalence and genotypic characterization of Human Parvovirus B19 in children with measles- and rubella-like illness in Iran.

Science.gov (United States)

Rezaei, Farhad; Sarshari, Behrang; Ghavami, Nastaran; Meysami, Parisa; Shadab, Azadeh; Salimi, Hamid; Mokhtari-Azad, Talat

2016-06-01

Human Parvovirus B19 (B19V) is a prototype of the Erythroparvovirus genus in Parvoviridae family. B19V infections are often associated with fever and rash, and can be mistakenly reported as measles or rubella. Differential diagnosis of B19V illness is necessary for case management and also for public health control activities, particularly in outbreak situations in which measles or rubella is suspected. To investigate the causative role of B19V infection in children with measles- and rubella-like illness, a total of 583 sera from children with exanthema were tested for presence of B19V by determining anti-B19V IgG and IgM antibodies by ELISA as well as B19V DNA detection by nested PCR. DNA positive samples were assessed further for determination of viral load and sequence analysis by Real-Time PCR and Sanger sequencing method, respectively. Out of 583 patients, 112 (19.21%) patients were positive for B19V-IgM antibody, 110 (18.87%) were positive for B19V-IgG antibody, and 63 (10.81%) were positive for B19V viral DNA. The frequency of B19V-IgG antibodies were increased with age; that is children under 6 year old showed 7.11% seroprevalence for B19V-IgG as compared to 18.39% and 28.91% for age groups 6 to >11 and 11-14 years old, respectively. Phylogenetic analysis of the NS1-VPu1 overlapping region revealed that all sequenced B19V-DNA belonged to genotype 1. The results of this study may aid the surveillance programs aiming at eradicating measles/rubella virus in Iran, as infections with B19V can be mistakenly reported as measles or rubella if laboratory testing is not conducted. © 2015 Wiley Periodicals, Inc.

Dietary Pattern and Metabolic Syndrome in Thai Adults

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W. Aekplakorn

2015-01-01

Full Text Available Objectives. To determine the dietary patterns of middle-aged Thais and their association with metabolic syndrome (MetS. Methods. The Thai National Health Examination Survey IV data of 5,872 participants aged ≥30–59 years were used. Dietary patterns were obtained by factor analysis and their associations with Mets were examined using multiple logistic regression. Results. Three major dietary patterns were identified. The first, meat pattern, was characterized by a high intake of red meat, processed meat, and fried food. The second, healthy pattern, equated to a high intake of beans, vegetables, wheat, and dairy products. The third, high carbohydrate pattern, had a high intake of glutinous rice, fermented fish, chili paste, and bamboo shoots. Respondents with a healthy pattern were more likely to be female, higher educated, and urban residents. The carbohydrate pattern was more common in the northeast and rural areas. Compared with the lowest quartile, the highest quartile of carbohydrate pattern was associated with MetS (adjusted odds ratio: 1.82; 95% CI 1.31, 2.55 in men and 1.60; 95% CI 1.24, 2.08 in women, particularly among those with a low level of leisure time physical activity (LTPA. Conclusion. The carbohydrate pattern with low level of LTPA increased the odds of MetS.

Physical activity patterns of youth with Down syndrome.

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Esposito, Phil E; MacDonald, Megan; Hornyak, Joseph E; Ulrich, Dale A

2012-04-01

The purpose of this study was to examine the physical activity patterns of children with Down syndrome. A cross-sectional approach and accelerometry were used to measure the time children with Down syndrome (N = 104) spent in sedentary, light, and moderate-to-vigorous physical activity. Results indicated that adolescents from ages 14 to 15 years were the most sedentary and spent the least amount of time in light and moderate-to-vigorous physical activity. A general trend of decreasing physical activity as children increase in age was found. This trend is similar to that found among typically developing youth. Participants in this study were found to spend a majority of their day engaged in sedentary activities. Results indicate that most participants were not accumulating the recommended 60 minutes of moderate or vigorous physical activity.

Dietary patterns and metabolic syndrome factors in a non-diabetic Italian population.

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Leite, Maria Léa Corrêa; Nicolosi, Alfredo

2009-09-01

To examine the relationship between dietary patterns and metabolic syndrome. Population-based cross-sectional study. The K-means clustering method was used to identify dietary patterns and logistic regression models were used to compare the adjusted prevalence rates of metabolic syndrome factors, stratifying by obesity status. The 1992-3 Italian Bollate Eye Study, a population-based survey carried out in the town of Bollate (Milan), Italy. A total of 1052 non-diabetic Italian subjects, 527 men and 525 women, aged 42-74 years. Five dietary clusters were identified: common, animal products, starch, vegetal/fat and vitamin/fibre. After adjusting for potential confounders, the starch group showed the highest prevalence of metabolic syndrome (36%) followed by the animal products group (30%); the vitamin/fibre (20%) and vegetal/fat groups (19%) showed the lowest prevalence. The starch group had more dyslipidaemia (higher TAG and lower HDL cholesterol levels) and the animal products group had a higher prevalence of impaired fasting glucose. The vitamin/fibre group had the lowest prevalence of abdominal obesity. The beneficial effect of the vegetal/fat and vitamin/fibre dietary patterns seemed stronger among the obese. Our results confirm the deleterious effect of a very-low-fat, high-carbohydrate diet and also of high intakes of animal products. The consumption of a diet high in vegetal fats or rich in fruits and vegetables is associated with a healthier metabolic profile. Reducing obesity is essential to prevent metabolic syndrome, but even among the obese dietary habits are important for preserving healthy lipid and glycaemic profiles.

Pseudo-bartter syndrome, pattern and correlation with other cystic fibrosis features

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Muna M Dahabreh

2013-01-01

Full Text Available Pseudo-Bartter Syndrome (PBS, although quite common in patients with cystic fibrosis (CF, is often missed as simple dehydration or Bartter syndrome. This study was performed in patients with PBS to compare the pattern and course of the disease with those with CF not manifesting with this syndrome. All patients with CF who attended the respiratory clinic at Queen Rania Al-Abdallah Hospital from January 2000 to April 2010 were included in this retrospective case-control study. A specially formulated data sheet was used and those with PBS and those not having the syndrome were identified. A total of 110 patients (51% female with CF with a median age of seven years were followed-up. Eighteen (16.3% of them had one or more episodes of PBS. The median follow-up period was 6.2 years. All the episodes occurred during summer and in infancy. Median age of the initial episode of PBS was three months. One-third of them were initially followed at the nephrology clinic. Three patterns of PBS were identified: single episode in three (16.6% patients, recurrent in 12 (66.6% patients and chronic in three (16.6% patients. Early colonization of Pseudomonas spp before 1 st birthday was seen in 44% patients with PBS compared with 12% in other CF patients (P-value = 0.0075. The total number of colonized patients and other CF features at the time of the study did not differ significantly among patients, although the mean Shwachman-Kulczycki score is significantly lower in those with recurrent PBS (69 compared with 85 in other CF patients. Gene mutation was identified in only 30% of the entire cohort. PBS is common in patients with CF, and it should be kept in mind in any patient with hypotonic dehydration and metabolic alkalosis. Recurrent pattern is associated with earlier Pseudomonas colonization.

Pseudo-bartter syndrome, pattern and correlation with other cystic fibrosis features.

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Dahabreh, Muna M; Najada, Abdelhamid S

2013-03-01

Pseudo-Bartter Syndrome (PBS), although quite common in patients with cystic fibrosis (CF), is often missed as simple dehydration or Bartter syndrome. This study was performed in patients with PBS to compare the pattern and course of the disease with those with CF not manifesting with this syndrome. All patients with CF who attended the respiratory clinic at Queen Rania Al-Abdallah Hospital from January 2000 to April 2010 were included in this retrospective case-control study. A specially formulated data sheet was used and those with PBS and those not having the syndrome were identified. A total of 110 patients (51% female) with CF with a median age of seven years were followed-up. Eighteen (16.3%) of them had one or more episodes of PBS. The median follow-up period was 6.2 years. All the episodes occurred during summer and in infancy. Median age of the initial episode of PBS was three months. One-third of them were initially followed at the nephrology clinic. Three patterns of PBS were identified: single episode in three (16.6%) patients, recurrent in 12 (66.6%) patients and chronic in three (16.6%) patients. Early colonization of Pseudomonas spp before 1 st birthday was seen in 44% patients with PBS compared with 12% in other CF patients (P-value = 0.0075). The total number of colonized patients and other CF features at the time of the study did not differ significantly among patients, although the mean Shwachman-Kulczycki score is significantly lower in those with recurrent PBS (69 compared with 85 in other CF patients). Gene mutation was identified in only 30% of the entire cohort. PBS is common in patients with CF, and it should be kept in mind in any patient with hypotonic dehydration and metabolic alkalosis. Recurrent pattern is associated with earlier Pseudomonas colonization.

A imunização contra a rubéola no primeiro trimestre de gestação pode levar à perda auditiva? Can the immunization against rubella take to the hearing loss in the first pregnancy quarter?

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Ana L��cia Pereira de Andrade Dias

2009-01-01

Full Text Available TEMA: embora o risco da Síndrome da Rubéola Congênita após a imunização seja pequeno, é necessário assegurar a imunidade das mulheres em idade fértil, especialmente daquelas com risco mais alto de exposição, visando a prevenção. OBJETIVO: esclarecer o risco que a imunização da rubéola apresenta para a audição do recém nascido, no primeiro trimestre de gestação. CONCLUSÃO: os levantamentos realizados por este estudo permitiram concluir que ainda há um grande caminho a ser percorrido em prol da erradicação da rubéola no Brasil, bem como a diminuição dos riscos de surdez neurossensorial causados pela Síndrome da Rubéola Congênita.BACKGROUND: although congenital rubella syndrome risk after immunization is low, it is required to assert immunity of women in fertile age, especially those in higher risk of exposure aiming at prevention. PURPOSE: to elucidate the risk that rubella immunization in the first three months of gestation presents for the newborn hearing. CONCLUSION: investigations carried out by this study allow us to conclude that there is still a lot to be done in order to eradicate rubella in Brazil, as well as to reduce/decrease risks of neurosensorial deafness caused by CRS.

A Study on the Relationship between Dietary Patterns and Prevalence of Irritable Bowel Syndrome

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O. Sadeghi

2015-10-01

Full Text Available Introduction & Objective: Although several dietary factors have been reported to alleviate or ag-gravate the symptoms of irritable bowel syndrome (IBS, no information is available linking dietary patterns to irritable bowel syndrome. Objective: This study was undertaken to assess the association between dietary patterns and the risk of irritable bowel syndrome among Ira-nian adults. Materials & Methods: In this cross-sectional study, data on 3846 Iranian general adults working in 50 different health centers were examined. Dietary intake of the participants was assessed using a 106-item self-administered Dish-based Semi-quantitative Food Frequency Question-naire (DS-FFQ which was designed and validated specifically for Iranian adults. A modified Persian version of the Rome III questionnaire was used for assessment of FGIDs, including IBS, which was defined according to ROME III criteria. To identify major dietary patterns based on the 39 food groups, we used principal component analysis. Results: We identified four major dietary patterns: 1 “fast food” dietary pattern; 2 “tradi-tional” dietary pattern; 3 “lacto-vegetarian” dietary pattern; 4 “western” dietary pattern. Af-ter adjustment for potential confounders, we found that those in the highest quartile of “fast food” dietary pattern tended to have higher risk of IBS than those in the lowest quartile (1.32; 0.99, 1.75, Ptrend=0.05. An inverse association was found between “lacto-vegetarian” die-tary pattern and risk of IBS; such that even after adjustment for potential confounders, those in top quartile of this dietary pattern were 24% less likely to have IBS (0.76; 0.59, 0.98; Ptrend=0.02. No overall significant associations were observed between “traditional” and “western” dietary patterns and risk of IBS, either before or after adjustment for covariates. Conclusion: We found that “lacto-vegetarian” dietary pattern was associated with reduced risk , while �

Dietary Patterns in Relation to Metabolic Syndrome among Adults in Poland: A Cross-Sectional Study

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Edyta Suliga

2017-12-01

Full Text Available In several populations the associations between diet and the risk of metabolic syndrome have not been fully examined yet. The aim of the study is to identify the main dietary patterns among Polish adults and the evaluation of the relationships of these patterns with metabolic syndrome and its components. The study was conducted on a group of 7997 participants, aged between 37 and 66 years old. Dietary patterns were identified by factor analysis. Metabolic syndrome was defined according to the International Diabetes Federation. Three dietary patterns were identified and designated as: “Healthy”, “Westernized” and “Traditional-carbohydrate”. In the adjusted model, a higher score in the “Westernized” pattern aligns with a higher risk of abnormal glucose concentration (ptrend = 0.000, but with a lower risk of abnormal High-Density Lipoprotein Cholesterol HDL-cholesterol concentration (ptrend = 0.024. Higher scores in the “Traditional-carbohydrate” pattern were connected with the risk of abdominal obesity (ptrend = 0.001 and increased triglycerides concentration (ptrend = 0.050. Our results suggest that adherence to the “Traditional-carbohydrate” dietary pattern, characterized by higher intakes of refined grains, potatoes, sugar and sweets is associated with a higher risk of abdominal obesity and triglyceridemia. A “Westernized” dietary pattern on the other hand, is related to hyperglycemia. The study results can be used for community-based health promotion and intervention programs to prevent or better manage chronic diseases.

Dietary patterns as compared with physical activity in relation to metabolic syndrome among Chinese adults

NARCIS (Netherlands)

He, Y.; Li, Y.; Lai, J.; Wang, D.; Zhang, J.; Fu, P.; Yang, X.; Qi, L.

2013-01-01

Aims: To examine the nationally-representative dietary patterns and their joint effects with physical activity on the likelihood of metabolic syndrome (MS) among 20,827 Chinese adults. Methods and results: CNNHS was a nationally representative cross-sectional observational study. Metabolic syndrome

Gait patterns in Prader-Willi and Down syndrome patients

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Albertini Giorgio

2010-06-01

Full Text Available Abstract Background Prader-Willi (PWS and Down Syndrome (DS are two genetic disorders characterised by some common clinical and functional features. A quantitative description and comparison of their patterns would contribute to a deeper understanding of the determinants of motor disability in these two syndromes. The aim of this study was to measure gait pattern in PWS and DS in order to provide data for developing evidence-based deficit-specific or common rehabilitation strategies. Methods 19 PWS patients (17.7-40 yr and 21 DS patients (18-39 yr were evaluated with an optoelectronic system and force platforms for measuring kinematic and kinetic parameters during walking. The results were compared with those obtained in a group of normal-weight controls (Control Group: CG; 33.4 + 9.6 yr. Results and Discussion The results show that PWS and DS are characterised by different gait strategies. Spatio-temporal parameters indicated a cautious, abnormal gait in both groups, but DS walked with a less stable strategy than PWS. As for kinematics, DS showed a significantly reduced hip and knee flexion, especially at initial contact and ankle range of motion than PWS. DS were characterised by lower ranges of motion (p Conclusions Our data show that DS walk with a less physiological gait pattern than PWS. Based on our results, PWS and DS patients need targeted rehabilitation and exercise prescription. Common to both groups is the aim to improve hypotonia, muscle strength and motor control during gait. In DS, improving pelvis and hip range of motion should represent a major specific goal to optimize gait pattern.

Dietary patterns and colorectal adenomas in Lynch syndrome: the GEOLynch cohort study.

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Botma, Akke; Vasen, Hans F A; van Duijnhoven, Fränzel J B; Kleibeuker, Jan H; Nagengast, Fokko M; Kampman, Ellen

2013-02-01

Patients with Lynch syndrome (LS) have a high risk of developing colorectal cancer due to mutations in mismatch repair genes. Because dietary factors, alone and in combination, influence sporadic colorectal carcinogenesis, the association of dietary patterns with colorectal adenomas in LS patients was assessed. In the GEOLynch cohort of 486 persons with LS, dietary information was collected, using a food frequency questionnaire. Dietary pattern scores were obtained by principal components analysis. Hazard ratios (HR) between dietary patterns and colorectal adenomas were calculated using Cox regression models. Robust sandwich variance estimates were used to control for dependency within families. Final models were adjusted for age, sex, smoking habits, colorectal adenoma history, and extent of colon resection. During a median follow-up of 20 months, colorectal adenomas were detected in 58 persons. Four dietary patterns were identified: a "Prudent," "Meat," "Snack," and "Cosmopolitan" pattern. Individuals within the highest tertile of the "Prudent" pattern had a HR of 0.73 (95% confidence interval [CI], 0.32-1.66) for colorectal adenomas, compared with the lowest tertile. Those with high "Meat" pattern scores had a HR of 1.70 (95% CI, 0.83-3.52). A high "Snack" pattern was associated with an increased risk of colorectal adenomas (HR, 2.16; 95% CI, 1.03-4.49). A HR of 1.25 (95% CI, 0.61-2.55) was observed for persons in the highest tertile of the "Cosmopolitan" pattern. These findings suggest that dietary patterns may be associated with development of colorectal adenoma in patients with Lynch syndrome. The directions of these findings are corroborative with those observed in studies investigating sporadic colorectal cancer. Copyright © 2012 American Cancer Society.

Urological symptoms in a subset of patients with urological chronic pelvic pain syndrome and a polysymptomatic, polysyndromic pattern of presentation.

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Lai, H Henry; North, Carol S; Andriole, Gerald L; Cupps, Lori; Song, David; Ness, Timothy J; Hong, Barry A

2014-06-01

We characterized urological symptoms in a subset of patients with urological chronic pelvic pain syndrome who have a high somatic symptom burden and a wide symptom distribution fitting a polysymptomatic, polysyndromic presentation pattern. A total of 81 patients with urological chronic pelvic pain syndrome enrolled in the National Institute of Diabetes and Digestive and Kidney Diseases MAPP Research Network Study at Washington University in St. Louis and University of Alabama at Birmingham sites. They completed a symptom questionnaire to assess the somatic symptom burden and its distribution, and GUPI (Genitourinary Pain Index) to assess urological chronic pelvic pain syndrome symptoms, impact on quality of life and self-reported treatment seeking behaviors for urological chronic pelvic pain symptoms. The polysymptomatic, polysyndromic symptom pattern was defined by self-report of numerous painful and nonpainful somatic symptoms across many organ systems and by symptom categories on the polysymptomatic, polysyndromic questionnaire. Patients with urological chronic pelvic pain syndrome and the symptom pattern reported more severe genitourinary pain on a Likert scale, more frequent pain in the last week and more widespread pain distribution in the genital and pelvic areas than patients with urological chronic pelvic pain syndrome without the pattern. Patients with the symptom pattern also had significantly higher scores on the GUPI pain subscale, quality of life subscale (worse) and total questionnaire scores than patients without the pattern. Patients with the pattern reported significantly more treatment seeking behavior than others. The polysymptomatic, polysyndromic pattern might be an important phenotypic factor to assess in the evaluation of urological chronic pelvic pain syndrome with clinical and research implications. This may be a distinct clinical subgroup among patients with urological chronic pelvic pain syndrome. Copyright © 2014 American Urological

[Evaluation of the seroprotection against measles, rubella and hepatitis B in children under 5 years of age in Peru, 2011].

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Fiestas Solórzano, Víctor; Gonzáles Noriega, Marco; Fiestas, Fabián; Cabezudo, Edwin; Suárez, Magna; Suárez, Víctor

2012-01-01

To estimate the prevalence of antibodies against measles, rubella and hepatitis B in children aged between 1 and 4 years in Peru. A national survey was conducted based on a questionnaire and capillary blood sample taken on filter paper in order to study antibodies against measles, rubella and hepatitis B in children from 1 to 4 years of age. A stratified, multistage, probability sampling design was used to be representative at the national level and at level of seven ambits, including the Metropolitan Lima Area, the rest of the urban coast, the rural coast, the urban highlands, the rural highlands, the urban jungle and the rural jungle. The capillary blood samples were processed according to the standardized protocols for detection of antibodies using the ELISA technique and commercial reagents. The survey showed a national prevalence of antibodies against measles, rubella and hepatitis B of 91.6% (CI 95%: 90.6%; 92.7%), 91.3% (CI 95%: 90.3%; 92.4%) and 95.9% (CI 95%: 95.0%; 96.8%) respectively. There was no evidence of significant differences in the prevalence among the ambits of study or among the socioeconomic strata of the conglomerates for any of the three types of antibodies. In children from 1 to 4 years of age, the national prevalence of antibodies against measles and Rubella was between 90-93%, while the prevalence of antibodies against Hepatitis B (anti-HBsAg) was between 95-97%.

Pathogenesis of Congenital Rubella Virus Infection in Human Fetuses: Viral Infection in the Ciliary Body Could Play an Important Role in Cataractogenesis

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Thong Van Nguyen

2015-01-01

Interpretation: Our study based on the pathological examination demonstrated that the rubella virus infection occurred via systemic organs of human fetuses. This fact was confirmed by immunohistochemistry and direct detection of viral RNA in multiple organs. To the best of our knowledge, this study is the first report demonstrating that the rubella virus infection occurred via systemic organs of the human body. Importantly, virus infection of the ciliary body could play an important role in cataractogenesis.

75 FR 48715 - Proposed Vaccine Information Materials for Measles, Mumps, Rubella, and Varicella Vaccines

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2010-08-11

... consciousness, --Permanent brain damage. Note: The first dose of MMRV vaccine has been associated with rash and... Vaccine Information Materials for Measles, Mumps, Rubella, and Varicella Vaccines AGENCY: Centers for... comment period. SUMMARY: Under the National Childhood Vaccine Injury Act (NCVIA) (42 U.S.C. 300aa-26), the...

A mixed outbreak of rubeola-rubella in district Kangra of Northern India

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Surender N Gupta

2013-01-01

Full Text Available Background: On 14 th September 2006, a local community leader informed us about the sudden increase in number of cases of fever and rash in five villages of district Kangra. We investigated the suspected outbreak to confirm the diagnosis and recommend for prevention and control. Materials and Methods: We defined a case of rubeola as the occurrence of fever with rash in children from 3 rd September to 13 th January, 2007. We collected information on age, sex, date of onset, residence, signs, symptoms, vaccination and cold chain status. We described the outbreak by place, time and person characteristics. We conducted a retrospective cohort study to estimate vaccine efficacy (VE. We ascertained the measles immunization status by interviewing the mothers and reviewing immunization cards. We confirmed diagnosis clinically, epidemiologically and serologically. Results: We identified 60 case patients in five villages (41/60 rubeola and 11/60 confirmed epidemiologically linked unvaccinated rubella. The overall attack rate (AR was 9%. Sex specific AR was 11% for male. Majorities of cases were >5 years of age. No death/minimal complications have occurred. Of 60 case-patients, 42 (70% were vaccinated for rubeola. The AR of rubeola among unvaccinated children was 25.8% as compared to AR among vaccinated of 4.5% (relative risk: 5.75%; 95% confidence interval: 3.48-9.51 P < 0.001. We estimated general VE to be 83% while gender based VE for male was 84%. Eight case-patients were confirmed serologically for measles immunoglobin M antibodies, two nasopharyngeal swabs positive by polymerase chain reaction. Rubeola virus was genotyped D4. Only 30% (18/60 of the cases took the treatment from modern system of medicine. Conclusion: A mixed outbreak of rubeola/rubella was confirmed clinically, epidemiologically and serologically. We recommend measles and rubella (MR vaccination at the age of 18-24 months and aggressive Information, Education and Communication (IEC

Association and pattern of diastolic dysfunction in patients of metabolic syndrome

International Nuclear Information System (INIS)

Khan, A.R.; Khan, M.Q.

2008-01-01

Diastolic dysfunction is important predictor of morbidity and mortality in patients with metabolic syndrome. This prospective study is to evaluate an association and pattern of diastolic dysfunction in patients of metabolic syndrome in our population. This cross-sectional study was performed at Armed Forces Institute of Cardiology Rawalpindi for a period of 6 months from 20th November 2007 to 20th April 2008. One hundred eligible and consenting patients having metabolic syndrome reporting in the OPD were registered. Inclusion criteria included patients of metabolic syndrome with negative ETT and normal systolic function. Exclusion criteria were patients with age above 60 years and valvular heart disease. Data was collected by a structured clinical interview with a physician, ECG and a transthoracic M-mode, 2D and TDI echocardiogram. The metabolic syndrome was defined according to International Diabetes Federation. There was a positive association between the degree of the metabolic syndrome-assessed as number of concurrently present components-and parameters of cardiac structure and function, with a consistent and statistically significant trend for all cardiac variables considered(p=0.000). There was also a positive association between each parameter and the cardiac diastolic dysfunction grading, e.g., systolic blood pressure (p=0.000), diastolic blood pressure (p=0.005), waist circumference (p=0.004), fasting blood sugar (p=0.008), triglycerides (p=0.006), HDL cholesterol (p=0.001). Several cardiac functional abnormalities regardless of symptoms increased progressively with increasing degree of metabolic syndrome. (author)

Dietary patterns and colorectal adenomas in Lynch syndrome: the GEOLynch cohort study

NARCIS (Netherlands)

Botma, A.; Vasen, H.F.; Duijnhoven, F.J.B. van; Kleibeuker, J.H.; Nagengast, F.M.; Kampman, E.

2013-01-01

BACKGROUND: Patients with Lynch syndrome (LS) have a high risk of developing colorectal cancer due to mutations in mismatch repair genes. Because dietary factors, alone and in combination, influence sporadic colorectal carcinogenesis, the association of dietary patterns with colorectal adenomas in

Dietary Patterns and Colorectal Adenomas in Lynch Syndrome: The GEOLynch Cohort Study

NARCIS (Netherlands)

Botma, A.; Vasen, H.F.; Duijnhoven, van F.J.B.; Kleibeuker, J.H.; Nagengast, F.M.; Kampman, E.

2013-01-01

BACKGROUND: Patients with Lynch syndrome (LS) have a high risk of developing colorectal cancer due to mutations in mismatch repair genes. Because dietary factors, alone and in combination, influence sporadic colorectal carcinogenesis, the association of dietary patterns with colorectal adenomas in

Dietary Patterns and Colorectal Adenomas in Lynch Syndrome The GEOLynch Cohort Study

NARCIS (Netherlands)

Botma, Akke; Vasen, Hans F. A.; van Duijnhoven, Franzel J. B.; Kleibeuker, Jan H.; Nagengast, Fokko M.; Kampman, Ellen

2013-01-01

BACKGROUND: Patients with Lynch syndrome (LS) have a high risk of developing colorectal cancer due to mutations in mismatch repair genes. Because dietary factors, alone and in combination, influence sporadic colorectal carcinogenesis, the association of dietary patterns with colorectal adenomas in

Certain dietary patterns are beneficial for the metabolic syndrome: reviewing the evidence.

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Calton, Emily K; James, Anthony P; Pannu, Poonam K; Soares, Mario J

2014-07-01

The metabolic syndrome (MetS) is a global public health issue of increasing magnitude. The Asia-Pacific region is expected to be hardest hit due to large population numbers, rising obesity, and insulin resistance (IR). This review assessed the protective effects of dietary patterns and their components on MetS. A literature search was conducted using prominent electronic databases and search terms that included in combination: diet, dietary components, dietary patterns, and metabolic syndrome. Articles were restricted to prospective studies and high quality randomized controlled trials that were conducted on humans, reported in the English language, and within the time period of 2000 to 2012. Traditional factors such as age, gender, physical activity, and obesity were associated with risk of MetS; however, these potential confounders were not always accounted for in study outcomes. Three dietary patterns emerged from the review; a Mediterranean dietary pattern, dietary approaches to stop hypertension diet, and the Nordic Diet. Potential contributors to their beneficial effects on prevalence of MetS or reduction in MetS components included increases in fruits, vegetables, whole grains, dairy and dairy components, calcium, vitamin D, and whey protein, as well as monounsaturated fatty acids, and omega-3 fatty acids. Additional prospective and high quality randomized controlled trial studies that investigate Mediterranean dietary pattern, the dietary approaches to stop hypertension diet, and the Nordic Diet would cement the protective benefits of these diets against the MetS. Copyright © 2014 Elsevier Inc. All rights reserved.

[Drug clinics. Drug of the month. A new measles-rubella-mumps vaccine (Priorix)].

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Senterre, J

1999-02-01

A novel measles-mumps-rubella vaccine (Priorix) has been marketed by SmithKline Beecham. It contains live attenuated virus with measles and mumps strains slightly different from those present in MMR VAX (Pasteur Merieux MSD). The indications and contraindications are similar for both vaccines. Immunogenicity is also equivalent as well as general reactogenicity. By contrast local symptoms were reported significantly less frequently after Priorix.

Drug-induced hypersensitivity syndrome associated with Epstein-Barr virus infection.

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Descamps, V; Mahe, E; Houhou, N; Abramowitz, L; Rozenberg, F; Ranger-Rogez, S; Crickx, B

2003-05-01

Association of drug-induced hypersensitivity syndrome with viral infection is debated. Human herpesvirus 6 (HHV-6) reactivation has been the most frequently reported infection associated with this syndrome. However, a case of cytomegalovirus (CMV) infection was recently described associated with anticonvulsant-induced hypersensitivity syndrome. We report a case of severe allopurinol-induced hypersensitivity syndrome with pancreatitis associated with Epstein-Barr virus (EBV) infection. Active EBV infection was demonstrated in two consecutive serum samples by the presence of anti-EBV early antigen (EA) IgM antibodies and an increase in anti-EBV EA IgG antibodies, whereas no anti-EBV nuclear antigen IgG antibodies were detected. EBV DNA was detected by polymerase chain reaction (PCR) in peripheral blood mononuclear cells. Reactivation of HHV-6 was suggested only by the presence of anti-HHV-6 IgM antibodies, but HHV-6 DNA was not detected by PCR in the serum. Other viral investigations showed previous infection (CMV, rubella, measles, parvovirus B19), immunization after vaccination (hepatitis B virus), or absence of previous infection (hepatitis C virus, human immunodeficiency virus). We suggest that EBV infection may participate in some cases, as do the other herpesviruses HHV-6 or CMV, in the development of drug-induced hypersensitivity syndrome.

Brazilian dietary patterns and the dietary approaches to stop hypertension (DASH) diet-relationship with metabolic syndrome and newly diagnosed diabetes in the ELSA-Brasil study.

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Drehmer, Michele; Odegaard, Andrew O; Schmidt, Maria Inês; Duncan, Bruce B; Cardoso, Letícia de Oliveira; Matos, Sheila M Alvim; Molina, Maria Del Carmen B; Barreto, Sandhi M; Pereira, Mark A

2017-01-01

Studies evaluating dietary patterns, including the DASH diet, and their relationship with the metabolic syndrome and diabetes may help to understand the role of dairy products (low fat or full fat) in these conditions. Our aim is to identify dietary patterns in Brazilian adults and compare them with the (DASH) diet quality score in terms of their associations with metabolic syndrome and newly diagnosed diabetes in the Brazilian Longitudinal Study of Adult Health-the ELSA-Brasil study. The ELSA-Brasil is a multicenter cohort study comprising 15,105 civil servants, aged 35-74 years at baseline (2008-2010). Standardized interviews and exams were carried out, including an OGTT. We analyzed baseline data for 10,010 subjects. Dietary patterns were derived by principal component analysis. Multivariable logistic regression investigated associations of dietary patterns with metabolic syndrome and newly diagnosed diabetes and multivariable linear regression with components of metabolic syndrome. After controlling for potential confounders, we observed that greater adherence to the Common Brazilian meal pattern (white rice, beans, beer, processed and fresh meats), was associated with higher frequencies of newly diagnosed diabetes, metabolic syndrome and all of its components, except HDL-C. Participants with greater intake of a Common Brazilian fast foods/full fat dairy/milk based desserts pattern presented less newly diagnosed diabetes. An inverse association was also seen between the DASH Diet pattern and the metabolic syndrome, blood pressure and waist circumference. Diet, light foods and beverages/low fat dairy pattern was associated with more prevalence of both outcomes, and higher fasting glucose, HDL-C, waist circumference (among men) and lower blood pressure. Vegetables/fruit dietary pattern did not protect against metabolic syndrome and newly diagnosed diabetes but was associated with lower waist circumference. The inverse associations found for the dietary pattern

Patterns of structural reorganization of the corticospinal tract in children with Sturge-Weber syndrome.

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Kamson, David O; Juhász, Csaba; Shin, Joseph; Behen, Michael E; Guy, William C; Chugani, Harry T; Jeong, Jeong-Won

2014-04-01

Reorganization of the corticospinal tract after early damage can limit motor deficit. In this study, we explored patterns of structural corticospinal tract reorganization in children with Sturge-Weber syndrome. Five children (age 1.5-7 years) with motor deficit resulting from unilateral Sturge-Weber syndrome were studied prospectively and longitudinally (1-2 years follow-up). Corticospinal tract segments belonging to hand and leg movements were separated and their volume was measured by diffusion tensor imaging tractography using a recently validated method. Corticospinal tract segmental volumes were normalized and compared between the Sturge-Weber syndrome children and age-matched healthy controls. Volume changes during follow-up were also compared with clinical motor symptoms. In the Sturge-Weber syndrome children, hand-related (but not leg-related) corticospinal tract volumes were consistently decreased in the affected cerebral hemisphere at baseline. At follow-up, two distinct patterns of hand corticospinal tract volume changes emerged. (1) Two children with extensive frontal lobe damage showed a corticospinal tract volume decrease in the lesional hemisphere and a concomitant increase in the nonlesional (contralateral) hemisphere. These children developed good hand grasp but no fine motor skills. (2) The three other children, with relative sparing of the frontal lobe, showed an interval increase of the normalized hand corticospinal tract volume in the affected hemisphere; these children showed no gross motor deficit at follow-up. Diffusion tensor imaging tractography can detect differential abnormalities in the hand corticospinal tract segment both ipsi- and contralateral to the lesion. Interval increase in the corticospinal tract hand segment suggests structural reorganization, whose pattern may determine clinical motor outcome and could guide strategies for early motor intervention. Copyright © 2014 Elsevier Inc. All rights reserved.

Dietary patterns as compared with physical activity in relation to metabolic syndrome among Chinese adults.

Science.gov (United States)

He, Y; Li, Y; Lai, J; Wang, D; Zhang, J; Fu, P; Yang, X; Qi, L

2013-10-01

To examine the nationally-representative dietary patterns and their joint effects with physical activity on the likelihood of metabolic syndrome (MS) among 20,827 Chinese adults. CNNHS was a nationally representative cross-sectional observational study. Metabolic syndrome was defined according to the Joint Interim Statement definition. The "Green Water" dietary pattern, characterized by high intakes of rice and vegetables and moderate intakes in animal foods was related to the lowest prevalence of MS (15.9%). Compared to the "Green Water" dietary pattern, the "Yellow Earth" dietary pattern, characterized by high intakes of refined cereal products, tubers, cooking salt and salted vegetable was associated with a significantly elevated odds of MS (odds ratio 1.66, 95%CI: 1.40-1.96), after adjustment of age, sex, socioeconomic status and lifestyle factors. The "Western/new affluence" dietary pattern characterized by higher consumption of beef/lamb, fruit, eggs, poultry and seafood also significantly associated with MS (odds ratio: 1.37, 95%CI: 1.13-1.67). Physical activity showed significant interactions with the dietary patterns in relation to MS risk (P for interaction = 0.008). In the joint analysis, participants with the combination of sedentary activity with the "Yellow Earth" dietary pattern or the "Western/new affluence" dietary pattern both had more than three times (95%CI: 2.8-6.1) higher odds of MS than those with active activity and the "Green Water" dietary pattern. Our findings from the large Chinese national representative data indicate that dietary patterns affect the likelihood of MS. Combining healthy dietary pattern with active lifestyle may benefit more in prevention of MS. Copyright © 2012 Elsevier B.V. All rights reserved.

Three-dimensional structure of Rubella virus factories

International Nuclear Information System (INIS)

Fontana, Juan; Lopez-Iglesias, Carmen; Tzeng, Wen-Ping; Frey, Teryl K.; Fernandez, Jose J.; Risco, Cristina

2010-01-01

Viral factories are complex structures in the infected cell where viruses compartmentalize their life cycle. Rubella virus (RUBV) assembles factories by recruitment of rough endoplasmic reticulum (RER), mitochondria and Golgi around modified lysosomes known as cytopathic vacuoles or CPVs. These organelles contain active replication complexes that transfer replicated RNA to assembly sites in Golgi membranes. We have studied the structure of RUBV factory in three dimensions by electron tomography and freeze-fracture. CPVs contain stacked membranes, rigid sheets, small vesicles and large vacuoles. These membranes are interconnected and in communication with the endocytic pathway since they incorporate endocytosed BSA-gold. RER and CPVs are coupled through protein bridges and closely apposed membranes. Golgi vesicles attach to the CPVs but no tight contacts with mitochondria were detected. Immunogold labelling confirmed that the mitochondrial protein p32 is an abundant component around and inside CPVs where it could play important roles in factory activities.

The Participation Patterns of Youth with Down Syndrome

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Megan MacDonald

2016-11-01

Full Text Available Purpose: The purpose of this paper was to investigate the participation patterns of children with Down syndrome (DS using the construct of participation as defined by the International Classification of Functioning Disability and Health (ICF. Method: Sixty-two children with DS were recruited between the ages of 9- 17 years. All participants were given an interview-administered version of the Children's Assessment of Participation and Enjoyment (CAPE to measure participation.38 Results: Children with DS participated the most often, based on frequency, in recreational activities (p < 0.001; social activity-types represented the greatest extension into the community based on with whom the children participated with (p < 0.05; finally, physical and social activities represented the greatest extension into the community geographically (p < 0.001. In addition, children with DS are significantly more active in activities that are informal in nature. Conclusions: Children with DS participate in a number of activities however, the extent of their participation within these activities differs depending on the participation pattern examined. Implications for educational and community-based programs are discussed.

Acetaminophen (Paracetamol) Use, Measles-Mumps-Rubella Vaccination, and Autistic Disorder: The Results of a Parent Survey

Science.gov (United States)

Schultz, Stephen T.; Klonoff-Cohen, Hillary S.; Wingard, Deborah L.; Akshoomoff, Natacha A.; Macera, Caroline A.; Ji, Ming

2008-01-01

The present study was performed to determine whether acetaminophen (paracetamol) use after the measles-mumps-rubella vaccination could be associated with autistic disorder. This case-control study used the results of an online parental survey conducted from 16 July 2005 to 30 January 2006, consisting of 83 children with autistic disorder and 80…

Hierarchical and Complex System Entropy Clustering Analysis Based Validation for Traditional Chinese Medicine Syndrome Patterns of Chronic Atrophic Gastritis.

Science.gov (United States)

Zhang, Yin; Liu, Yue; Li, Yannan; Zhao, Xia; Zhuo, Lin; Zhou, Ajian; Zhang, Li; Su, Zeqi; Chen, Cen; Du, Shiyu; Liu, Daming; Ding, Xia

2018-03-22

Chronic atrophic gastritis (CAG) is the precancerous stage of gastric carcinoma. Traditional Chinese Medicine (TCM) has been widely used in treating CAG. This study aimed to reveal core pathogenesis of CAG by validating the TCM syndrome patterns and provide evidence for optimization of treatment strategies. This is a cross-sectional study conducted in 4 hospitals in China. Hierarchical clustering analysis (HCA) and complex system entropy clustering analysis (CSECA) were performed, respectively, to achieve syndrome pattern validation. Based on HCA, 15 common factors were assigned to 6 syndrome patterns: liver depression and spleen deficiency and blood stasis in the stomach collateral, internal harassment of phlegm-heat and blood stasis in the stomach collateral, phlegm-turbidity internal obstruction, spleen yang deficiency, internal harassment of phlegm-heat and spleen deficiency, and spleen qi deficiency. By CSECA, 22 common factors were assigned to 7 syndrome patterns: qi deficiency, qi stagnation, blood stasis, phlegm turbidity, heat, yang deficiency, and yin deficiency. Combination of qi deficiency, qi stagnation, blood stasis, phlegm turbidity, heat, yang deficiency, and yin deficiency may play a crucial role in CAG pathogenesis. In accord with this, treatment strategies by TCM herbal prescriptions should be targeted to regulating qi, activating blood, resolving turbidity, clearing heat, removing toxin, nourishing yin, and warming yang. Further explorations are needed to verify and expand the current conclusions.

Pattern of irritable bowel syndrome and its impact on quality of life in ...

African Journals Online (AJOL)

Introduction: Irritable bowel syndrome (IBS) is one of the most common disorders diagnosed by gastroenterologists and a common cause of general practice visits. Although this disease is not life threatening, patients with IBS seem to be seriously affected in their everyday life. The study was designed to explore the pattern ...

Measles, mumps, rubella, and varicella seroprevalence in refugees in Germany in 2015.

Science.gov (United States)

Jablonka, Alexandra; Happle, Christine; Grote, Ulrike; Schleenvoigt, Benjamin Thomas; Hampel, Annika; Dopfer, Christian; Hansen, Gesine; Schmidt, Reinhold Ernst; Behrens, Georg M N

2016-12-01

The current extent of migration poses emerging socio-economic and humanitarian challenges. Little is known on vaccination rates in migrants entering Europe, and the implementation of guidelines for serological testing and vaccination of refugees are pending. We conducted seroprevalence analyses for measles, mumps, rubella and varicella (MMRV) in 678 refugees coming to Germany during the current crisis. The mean age of refugees was 28.8±11.4 years, and 76.1 % of subjects were male. Overall, IgG seronegativity was 7.4 % (95 % CI 5.5-9.6) for measles, 10.2 % (95 % CI 8.0-12.5) for mumps, 2.2 % (95 % CI 1.2-3.4) for rubella, and 3.3 % (95 % CI 1.9-4.9) for varicella. Seropositivity rates were age-dependent with considerably low values in children. For example, overall MMR immunity was 90.9 % (95 % CI 88.8-93.1), but only 73.1 % of minor aged refugees displayed complete seroprevalence against all three diseases, and only 68.9 % of children and adolescents were completely MMRV immune. Our initial data set suggests overall satisfactory MMRV immunity in adult migrants coming to Europe, but the observed low MMRV seroprevalences in refugee children support thorough and prompt vaccination of young migrants entering Europe. Taken together, our data set underlines the urgent need to implement and validate vaccination guidelines for refugee care in the current crisis.

Deviations in daily physical activity patterns in patients with the chronic fatigue syndrome: A case control study

NARCIS (Netherlands)

Evering, R.M.H.; Tönis, Thijs; Vollenbroek-Hutten, Miriam Marie Rosé

2011-01-01

Deviations in daily physical activity patterns may play an important role in the development and maintenance of fatigue in the chronic fatigue syndrome (CFS). The aim of this study is to gain insight into the objective daily physical activity pattern of patients with CFS in comparison with healthy

Altered growth, differentiation, and responsiveness to epidermal growth factor of human embryonic mesenchymal cells of palate by persistent rubella virus infection

International Nuclear Information System (INIS)

Yoneda, T.; Urade, M.; Sakuda, M.; Miyazaki, T.

1986-01-01

We previously demonstrated that human embryonic mesenchymal cells derived from the palate (HEMP cells) retain alkaline phosphatase (ALP) content and capacity for collagen synthesis after long-term culture, and their growth is markedly stimulated by epidermal growth factor (EGF). There was a dramatic decrease in ALP content and capacity to synthesize collagen in HEMP cells (HEMP-RV cells) persistently infected with rubella virus (RV). EGF increased ALP activity and decreased collagen synthesis in HEMP cells, whereas EGF showed no effect on these activities in HEMP-RV cells. Growth of HEMP-RV cells was slightly reduced compared with that of HEMP cells. EGF stimulated growth of HEMP cells and to a lesser extent of HEMP-RV cells. Binding of 125 I-EGF to cell-surface receptors in HEMP-RV cells was, to our surprise, twice as much as that in HEMP cells. However, internalization of bound 125 I-EGF in HEMP-RV cells was profoundly diminished. Thus, persistent RV infection causes not only changes in HEMP cell growth and differentiation but a decrease in or loss of HEMP cell responsiveness to EGF. The effects of persistent RV infection on palatal cell differentiation as well as growth may be responsible for the pathogenesis of congenital rubella. Furthermore, since HEMP cells appear to be closely related to osteoblasts, these results suggest a mechanism for RV-induced osseous abnormalities manifested in congenital rubella patients

Progeria (Hutchison - Gilford syndrome in siblings: In an autosomal recessive pattern of inheritance

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Raghu Tanjore

2001-09-01

Full Text Available Progeria is an autosomal dominant, premature aging syndrome. Six and three year old female siblings had sclcrodermatous changes over the extremities, alopecia, beaked nose, prominent veins and bird-like facies. Radiological features were consistent with features of progeria. The present case highlights rarity of progeria in siblings with a possible autosomal recessive pattern.

Personality traits and emotional patterns in irritable bowel syndrome.

Science.gov (United States)

Muscatello, Maria Rosaria A; Bruno, Antonio; Mento, Carmela; Pandolfo, Gianluca; Zoccali, Rocco A

2016-07-28

The review focuses on those personality traits (neuroticism, extraversion, openness to experience, agreeableness, and conscientiousness), constructs (alexithymia and distressed - Type D personality) and emotional patterns (negative and positive) that are of particular concern in health psychology, with the aim to highlight their potential role on the pathogenesis, onset, symptom clusters, clinical course, and outcome of irritable bowel syndrome (IBS). Personality traits and emotional patterns play key roles in affecting autonomic, immune, inflammatory, and endocrine functions, thus contributing not only to IBS clinical expression and symptomatic burden, but also to disease physiopathology. In this sense, psychological treatments should address those personality traits and emotional features that are constitutive of, and integral to IBS. The biopsychosocial model of illness applied to IBS acknowledges the interaction between biological, psychological, environmental, and social factors in relation to pain and functional disability. A holistic approach to IBS should take into account the heterogeneous nature of the disorder, and differentiate treatments for different types of IBS, also considering the marked individual differences in prevalent personality traits and emotional patterns. Beyond medications, and lifestyle/dietary interventions, psychological and educational treatments may provide the optimal chance of addressing clinical symptoms, comorbid conditions, and quality of life in IBS patients.

Phase analysis of regional and global ventricular contraction patterns in Wolff-Parkinson-White syndrome

International Nuclear Information System (INIS)

Konishi, Tokuji; Koyama, Takao; Ichikawa, Takehiko

1989-01-01

Multigated blood pool scintigraphy was performed in 20 normal subjects and 39 patients with various intraventricular conduction abnormalities, including 25 patients with Wolff-Parkinson-White (WPW) syndrome. Cardiac imaging was performed in the modified left anterior oblique, right anterior oblique, and left lateral projections. In WPW syndrome, early contraction sites which were not seen in normal subjects were detected at the ventricular base in phase images. These anomalous early contraction sites disappeared after successful suppression of conduction through an accessory pathway by intravenous procainamide. These sites are believed to correspond to the location of the bundle of Kent and were consistent with the electrocardiographic findings. Phase mapping is a suitable noninvasive method to locate the position of the bundle of Kent and evaluate the ventricular contraction pattern in WPW syndrome and other intraventricular conduction abnormalities. (author)

Prevalence of malaria, typhoid, toxoplasmosis and rubella among febrile children in Cameroon.

Science.gov (United States)

Achonduh-Atijegbe, Olivia A; Mfuh, Kenji O; Mbange, Aristid H E; Chedjou, Jean P; Taylor, Diane W; Nerurkar, Vivek R; Mbacham, Wilfred F; Leke, Rose

2016-11-08

The current roll-out of rapid diagnostic tests (RDTs) in many endemic countries has resulted in the reporting of fewer cases of malaria-attributed illnesses. However, lack of knowledge of the prevalence of other febrile illnesses and affordable diagnostic tests means that febrile patients are not managed optimally. This study assessed the prevalence of commonly treatable or preventable febrile illnesses in children between 6 months and 15 years using rapid diagnostic tests at the point-of-care. Febrile children were enrolled between February-April 2014 at a health facility after obtaining informed consent from parent. Eligible participants were aged 6 months-15 years with a history of fever in the last 24 h or axillary temperature ≥38 °C at consultation. All participants were tested using RDTs for malaria, typhoid, toxoplasmosis and rubella. Malaria parasites were further identified by microscopy and PCR. Clinical and household characteristics were recorded and association with pathogens determined. Of the 315 children enrolled, the mean age was 5.8 ± 3.8 years. Stomach pain (41.2 %) was the most reported symptom. Prior to attending the health facility, 70.8 % had taken antipyretics, 27.9 % antimalarials, 11.4 % antibiotics and 13.3 % antifungal drugs. Among 315 children with fever, based on RDTs, 56.8 % were infected with malaria, 4.4 % with typhoid, 3.2 % with acute toxoplasmosis, and 1.3 % with rubella (all positive for rubella were in the same family and not vaccinated). All non-malarial infections were co-infections and approximately 30 % of the fever cases went un-diagnosed. Malaria prevalence by microscopy and PCR was 43.4 and 70.2 % respectively. The sensitivity and specificity of RDTs for the diagnosis of malaria were 75.98 and 100 % respectively, with 0.73 measurement agreement between RDTs and microscopy while that of RDT and PCR were 81 and 100 % respectively with a K value of 0.72. The use of Insecticide Treated Bednets was

Magnetic resonance imaging of the brain in congenital rubella virus and cytomegalovirus infections

International Nuclear Information System (INIS)

Sugita, K.; Ando, M.; Makino, M.; Takanashi, J.; Fujimoto, N.; Niimi, H.

1991-01-01

Two children with congenital rubella virus and six with cytomegalovirus (CMV) infections, were examined by magnetic resonance (MR) and CT. Cranial MR imaging (MRI) with T2-weighted spin-echo (SE) and inversion recovery (IR) sequences demonstrated the following: Periventricular hyperintensity (4), subcortical hyperintensity (5), delayed myelination (4), oligo/pachygyria (2), cerebellar hypoplasia (2). This study showed that the more-disabled children had more marked abnormal MRI findings. MRI was more effective in the detection of parenchymal lesion than was CT, although intraventricular calcification was better visualized with CT. (orig.)

Are personality patterns and clinical syndromes associated with patients' motives and perceived outcome of orthognathic surgery?

DEFF Research Database (Denmark)

Petersen, Jesper Øland; Jensen, John; Melsen, Birte

2010-01-01

A study of surgical-orthodontic patients was performed to assess whether signs of personality patterns and psychologically defined clinical syndromes influenced patients' motives for treatment, perceived oral function, self-concept, social interaction, and overall satisfaction with treatment....

Seroprevalence of measles, mumps and rubella among young adults, after 20 years of universal 2-dose MMR vaccination in Israel.

Science.gov (United States)

Levine, Hagai; Zarka, Salman; Ankol, Omer E; Rozhavski, Vladi; Davidovitch, Nadav; Aboudy, Yair; Balicer, Ran D

2015-01-01

Evidence-based vaccination policy is important for the global and local efforts of achieving control over measles. In 2007, the first Israeli birth cohort to be twice vaccinated during childhood with Measles-Mumps-Rubella vaccine reached adulthood. In parallel, Israel experienced its largest measles outbreak since 1994. We aimed to assess the seroprevalence of measles IgG antibodies and concordance with rubella and mumps seroprevalence among young Israeli adults born 1988-9 in comparison to previous birth cohorts, in order to inform evidence based prevention policy. We conducted a seroprevalence study of IgG antibodies among 439 Israeli adults born in 1988-9, based on a representative sample of sera collected at age 18-19 upon recruitment to mandatory military service in 2007. In total, 85.7% were seropositive for measles as compared with 95.6% in the 1996 recruitment (P Israel and in other countries.

Antiphospholipid syndrome

DEFF Research Database (Denmark)

Cervera, Ricard; Piette, Jean-Charles; Font, Josep

2002-01-01

To analyze the clinical and immunologic manifestations of antiphospholipid syndrome (APS) in a large cohort of patients and to define patterns of disease expression.......To analyze the clinical and immunologic manifestations of antiphospholipid syndrome (APS) in a large cohort of patients and to define patterns of disease expression....

Analysis of gene expression in fetal and adult cells infected with rubella virus

International Nuclear Information System (INIS)

Adamo, Maria Pilar; Zapata, Marta; Frey, Teryl K.

2008-01-01

Congenital infection with rubella virus (RUB) leads to persistent infection and congenital defects and we showed previously that primary human fetal fibroblasts did not undergo apoptosis when infected with RUB, which could promote fetal virus persistence [Adamo, P., Asis, L., Silveyra, P., Cuffini, C., Pedranti, M., Zapata, M., 2004. Rubella virus does not induce apoptosis in primary human embryo fibroblasts cultures: a possible way of viral persistence in congenital infection. Viral Immunol. 17, 87-100]. To extend this observation, gene chip analysis was performed on a line of primary human fetal fibroblasts (10 weeks gestation) and a line of human adult lung fibroblasts (which underwent apoptosis in response to RUB infection) to compare gene expression in infected and uninfected cells. A total of 632 and 516 genes were upregulated or downregulated in the infected fetal and adult cells respectively in comparison to uninfected cells, however only 52 genes were regulated in both cell types. Although the regulated genes were different, across functional gene categories the patterns of gene regulation were similar. In general, regulation of pro- and anti-apoptotic genes following infection appeared to favor apoptosis in the adult cells and lack of apoptosis in the fetal cells, however there was a greater relative expression of anti-apoptotic genes and reduced expression of pro-apoptotic genes in uninfected fetal cells versus uninfected adult cells and thus the lack of apoptosis in fetal cells following RUB infection was also due to the prevailing background of gene expression that is antagonistic to apoptosis. In support of this hypothesis, it was found that of a battery of five chemicals known to induce apoptosis, two induced apoptosis in the adult cells, but not in fetal cells, and two induced apoptosis more rapidly in the adult cells than in fetal cells (the fifth did not induce apoptosis in either). A robust interferon-stimulated gene response was induced

Ambras syndrome

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Sudhir Malwade

2015-01-01

Full Text Available Ambras syndrome, a form of congenital hypertrichosis lanuginosa, is extremely rare in neonates. It is characterized by typical pattern of hair distribution, dysmorphic facial features and a familial pattern of inheritance. We report a case of Ambras syndrome in a preterm neonate with history of consanguinity and positive family history.

Effects of white-nose syndrome on regional population patterns of 3 hibernating bat species.

Science.gov (United States)

Ingersoll, Thomas E; Sewall, Brent J; Amelon, Sybill K

2016-10-01

Hibernating bats have undergone severe recent declines across the eastern United States, but the cause of these regional-scale declines has not been systematically evaluated. We assessed the influence of white-nose syndrome (an emerging bat disease caused by the fungus Pseudogymnoascus destructans, formerly Geomyces destructans) on large-scale, long-term population patterns in the little brown myotis (Myotis lucifugus), the northern myotis (Myotis septentrionalis), and the tricolored bat (Perimyotis subflavus). We modeled population trajectories for each species on the basis of an extensive data set of winter hibernacula counts of more than 1 million individual bats from a 4-state region over 13 years and with data on locations of hibernacula and first detections of white-nose syndrome at each hibernaculum. We used generalized additive mixed models to determine population change relative to expectations, that is, how population trajectories differed with a colony's infection status, how trajectories differed with distance from the point of introduction of white-nose syndrome, and whether declines were concordant with first local observation of the disease. Population trajectories in all species met at least one of the 3 expectations, but none met all 3. Our results suggest, therefore, that white-nose syndrome has affected regional populations differently than was previously understood and has not been the sole cause of declines. Specifically, our results suggest that in some areas and species, threats other than white-nose syndrome are also contributing to population declines, declines linked to white-nose syndrome have spread across large geographic areas with unexpected speed, and the disease or other threats led to declines in bat populations for years prior to disease detection. Effective conservation will require further research to mitigate impacts of white-nose syndrome, renewed attention to other threats to bats, and improved surveillance efforts to ensure

SEROEPIDEMIOLOGY OF TOXOPLASMA, RUBELLA, CYTOMEGALOVIRUS AND HERPES SIMPLEX VIRUS -2 IN WOMEN WITH BAD OBSTETRIC HISTORY. PART I: TOXOPLASMA AND RUBELLA INFECTIONS

Directory of Open Access Journals (Sweden)

Abdulghani Mohamed Alsamarai

2013-10-01

Full Text Available Bad obstetric history (BOH is associated with social and psychological impacts on society worldwide. The causes of BOH may be genetic, hormonal, abnormal maternal immune response, and maternal infection. In women with bad obstetric history (BOH, Toxoplasma (T IgG high rate has been reported for Nepal (55.2%, while high (42.5% and lowest (6.97% active toxoplasma infections has been reported for India. In Arab countries, IgG and IgM higher and lowest seroprevalence rates were for Iraq. The higher susceptibility rates for Rubella in Arab countries excluding Iraq were reported in Morocco (83.4%, Sudan (34.7%, Qatar (25.1%, and Tunisia (20.3%. The lowest susceptibility was reported for Saudi Arabia (6.7%. In Iraq, studies indicate a high susceptibility rates in Thi Qar (98.05%, Kirkuk (91%, Baghdad (79%, and Waset (45.7%. The lowest susceptibility rates were reported for Diyala (0% in women with previous abortion, and 3.9% in pregnant women without history of BOH.

Application of Oral Fluid Assays in Support of Mumps, Rubella and Varicella Control Programs

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Peter A. C. Maple

2015-12-01

Full Text Available Detection of specific viral antibody or nucleic acid produced by infection or immunization, using oral fluid samples, offers increased potential for wider population uptake compared to blood sampling. This methodology is well established for the control of HIV and measles infections, but can also be applied to the control of other vaccine preventable infections, and this review describes the application of oral fluid assays in support of mumps, rubella and varicella national immunization programs. In England and Wales individuals with suspected mumps or rubella, based on clinical presentation, can have an oral fluid swab sample taken for case confirmation. Universal varicella immunization of children has led to a drastic reduction of chickenpox in those countries where it is used; however, in England and Wales such a policy has not been instigated. Consequently, in England and Wales most children have had chickenpox by age 10 years; however, small, but significant, numbers of adults remain susceptible. Targeted varicella zoster virus (VZV immunization of susceptible adolescents offers the potential to reduce the pool of susceptible adults and oral fluid determination of VZV immunity in adolescents is a potential means of identifying susceptible individuals in need of VZV vaccination. The main application of oral fluid testing is in those circumstances where blood sampling is deemed not necessary, or is undesirable, and when the documented sensitivity and specificity of the oral fluid assay methodology to be used is considered sufficient for the purpose intended.

Worldwide Practice Patterns in Lynch Syndrome Diagnosis and Management, Based on Data From the International Mismatch Repair Consortium.

Science.gov (United States)

Pan, Jennifer Y; Haile, Robert W; Templeton, Allyson; Macrae, Finlay; Qin, FeiFei; Sundaram, Vandana; Ladabaum, Uri

2018-04-24

Families with a history of Lynch syndrome often do not adhere to guidelines for genetic testing and screening. We investigated practice patterns related to Lynch syndrome worldwide, to ascertain potential targets for research and public policy efforts. We collected data from the International Mismatch Repair Consortium (IMRC), which comprises major research and clinical groups engaged in the care of families with Lynch syndrome worldwide. IMRC institutions were invited to complete a questionnaire to characterize diagnoses of Lynch syndrome and management practice patterns. Fifty-five providers, representing 63 of 128 member institutions (49%) in 21 countries, completed the questionnaire. For case finding, 55% of respondents reported participating in routine widespread population tumor testing among persons with newly diagnosed Lynch syndrome-associated cancers, whereas 27% reported relying on clinical criteria with selective tumor and/or germline analyses. Most respondents (64%) reported using multigene panels for germline analysis, and only 28% reported testing tumors for biallelic mutations for cases in which suspected pathogenic mutations were not confirmed by germline analysis. Respondents reported relying on passive dissemination of information to at-risk family members, and there was variation in follow through of genetic testing recommendations. Reported risk management practices varied-nearly all programs (98%) recommended colonoscopy every 1 to 2 years, but only 35% recommended chemoprevention with aspirin. There is widespread heterogeneity in management practices for Lynch syndrome worldwide among IMRC member institutions. This may reflect the rapid pace of emerging technology, regional differences in resources, and the lack of definitive data for many clinical questions. Future efforts should focus on the large numbers of high-risk patients without access to state-of-the-art Lynch syndrome management. Copyright © 2018 AGA Institute. Published by

Prevalence and Characteristics of Nonblanching, Palpable Skin Lesions With a Linear Pattern in Children With Henoch-Schönlein Syndrome.

Science.gov (United States)

Milani, Gregorio P; Lava, Sebastiano A G; Ramelli, Vera; Bianchetti, Mario G

2017-11-01

Linear nonblanching skin lesions are thought to occur very rarely in patients with Henoch-Schönlein syndrome. To examine the prevalence and characteristics of linear nonblanching skin lesions in children with Henoch-Schönlein syndrome. A prospective case series was conducted at the ambulatory practice of a hospitalist between January 1, 2010, and December 31, 2015, among 31 consecutive children with Henoch-Schönlein syndrome. Thirty-one consecutive children affected with Henoch-Schönlein syndrome who were from 3.0 to 12.0 years of age (median age, 6.2 years). Children with Henoch-Schönlein syndrome underwent a careful, structured skin examination established in advance with emphasis on the presence of palpable lesions with a linear pattern. Among the 31 children in the study (12 girls and 19 boys; median age, 6.2 years [range, 3.0-12.0 years]), 8 (26%) had linear lesions on the legs, groin, waistline, wrists, or forearms. Patients with or without linear lesions did not differ significantly with respect to sex, age, and cutaneous, abdominal, articular, or renal involvement. This study illustrates the prevalence and characteristics of linear skin lesions in patients with Henoch-Schönlein syndrome. Patients with symptoms suggestive of this vasculitis should be evaluated for the presence of nonblanching, palpable lesions with a linear pattern.

The two-dose measles, mumps, and rubella (MMR) immunisation schedule: factors affecting maternal intention to vaccinate.

OpenAIRE

Pareek, M; Pattison, H M

2000-01-01

BACKGROUND: In the light of sub-optimal uptake of the measles, mumps, and rubella (MMR) vaccination, we investigated the factors that influence the intentions of mothers to vaccinate. METHOD: A cross-sectional survey of 300 mothers in Birmingham with children approaching a routine MMR vaccination was conducted using a postal questionnaire to measure: intention to vaccinate, psychological variables, knowledge of the vaccine, and socioeconomic status. The vaccination status of the children was ...

Epstein–Barr Virus, but Not Cytomegalovirus, Latency Accelerates the Decay of Childhood Measles and Rubella Vaccine Responses—A 10-Year Follow-up of a Swedish Birth Cohort

Directory of Open Access Journals (Sweden)

Gintare Lasaviciute

2017-12-01

Full Text Available BackgroundEpstein–Barr virus (EBV and cytomegalovirus (CMV are ubiquitous and persistent herpesviruses commonly acquired during childhood. Both viruses have a significant impact on the immune system, especially through mediating the establishment of cellular immunity, which keeps these viruses under control for life. Far less is known about how these viruses influence B-cell responses.ObjectivesTo evaluate the impact of latent EBV and CMV infection on rubella- and measles-specific antibody responses as well as on the B-cell compartment in a prospective birth cohort followed during the first 10 years of life.MethodsIgG titers against rubella and measles vaccines were measured in plasma obtained from the same donors at 2, 5, and 10 years of age. Peripheral B-cell subsets were evaluated ex vivo at 2 and 5 years of age. Factors related to optimal B-cell responses including IL-21 and CXCL13 levels in plasma were measured at all-time points.ResultsEBV carriage in the absence of CMV associated with an accelerated decline of rubella and measles-specific IgG levels (p = 0.003 and p = 0.019, respectively, linear mixed model analysis, while CMV carriage in the absence of EBV associated with delayed IgG decay over time for rubella (p = 0.034. At 5 years of age, EBV but not CMV latency associated with a lower percentage of plasmablasts, but higher IL-21 levels in the circulation.ConclusionOur findings suggest that EBV carriage in the absence of CMV influences the B-cell compartment and the dynamics of antibody responses over time during steady state in the otherwise healthy host.

Measles-mumps-rubella-varicella combination vaccine and the risk of febrile seizures.

Science.gov (United States)

Klein, Nicola P; Fireman, Bruce; Yih, W Katherine; Lewis, Edwin; Kulldorff, Martin; Ray, Paula; Baxter, Roger; Hambidge, Simon; Nordin, James; Naleway, Allison; Belongia, Edward A; Lieu, Tracy; Baggs, James; Weintraub, Eric

2010-07-01

In February 2008, we alerted the Advisory Committee on Immunization Practices to preliminary evidence of a twofold increased risk of febrile seizures after the combination measles-mumps-rubella-varicella (MMRV) vaccine when compared with separate measles-mumps-rubella (MMR) and varicella vaccines. Now with data on twice as many vaccine recipients, our goal was to reexamine seizure risk after MMRV vaccine. Using 2000-2008 Vaccine Safety Datalink data, we assessed seizures and fever visits among children aged 12 to 23 months after MMRV and separate MMR + varicella vaccines. We compared seizure risk after MMRV vaccine to that after MMR + varicella vaccines by using Poisson regression as well as with supplementary regressions that incorporated chart-review results and self-controlled analyses. MMRV vaccine recipients (83,107) were compared with recipients of MMR + varicella vaccines (376,354). Seizure and fever significantly clustered 7 to 10 days after vaccination with all measles-containing vaccines but not after varicella vaccination alone. Seizure risk during days 7 to 10 was higher after MMRV than after MMR + varicella vaccination (relative risk: 1.98 [95% confidence interval: 1.43-2.73]). Supplementary analyses yielded similar results. The excess risk for febrile seizures 7 to 10 days after MMRV compared with separate MMR + varicella vaccination was 4.3 per 10,000 doses (95% confidence interval: 2.6-5.6). Among 12- to 23-month-olds who received their first dose of measles-containing vaccine, fever and seizure were elevated 7 to 10 days after vaccination. Vaccination with MMRV results in 1 additional febrile seizure for every 2300 doses given instead of separate MMR + varicella vaccines. Providers who recommend MMRV should communicate to parents that it increases the risk of fever and seizure over that already associated with measles-containing vaccines.

High-resolution Esophageal Manometry Patterns in Children and Adolescents With Rumination Syndrome.

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Righini Grunder, Franziska; Aspirot, Ann; Faure, Christophe

2017-12-01

Rumination is defined by effortless regurgitation within seconds or minutes of ingested food. The aim of this study was to determine the high-resolution esophageal manometry (HREM) pattern in children with rumination syndrome. HREM was evaluated in 15 pediatric patients with rumination syndrome according to the Rome criteria and compared with 15 controls. Primary rumination was defined as a clinical rumination episode associated with a rise of gastric pressure above 30 mmHg. Secondary rumination was defined as a clinical rumination episode associated with a rise of gastric pressure above 30 mmHg during a transient lower esophageal sphincter relaxation (TLESR). Ninety-two episodes of rumination were demonstrated during HREM study in 12 of the 15 patients (80%; 1-29 episodes per patient; median intragastric pressure 49.6 mmHg). Primary rumination occurred in 3 patients and secondary rumination in 5 patients. One patient had primary and secondary rumination episodes. In 3 patients, classification of rumination episodes was not possible due to repetitive swallowing leading to lower esophageal sphincter relaxation. In the control group, no episodes of rumination occurred. The sensitivity and the specificity of the HREM study (association of a clinical rumination episode with a rise in gastric pressure >30 mmHg) to confirm the diagnosis of rumination were 80% and 100%, respectively. HREM allows confirming diagnosis of rumination syndrome and to differentiate between primary and secondary rumination in the presence of objective rumination episodes. Further research is needed to study whether HREM results may influence treatment and outcome of children with rumination syndrome.

Association of Dietary Patterns with Components of Metabolic Syndrome and Inflammation among Middle-Aged and Older Adults with Metabolic Syndrome in Taiwan

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Ahmad Syauqy

2018-01-01

Full Text Available This study examined the correlation of dietary patterns with components of metabolic syndrome (MetS and inflammation among middle-aged and older adults with MetS in Taiwan. This cross-sectional study used data from the Mei Jau International Health Management Institution in Taiwan between 2004 and 2013. A total of 26,016 subjects aged 35 years and above were selected for analysis. MetS was defined according to the International Diabetes Federation. Three dietary patterns were identified by principal component analysis. High intake of a meat–instant food dietary pattern (rich in animal protein, saturated fat, sweets, sodium, and food additives was positively associated with components of MetS and C-reactive protein (CRP, while high intake of a vege–seafood dietary pattern (rich in dietary fiber, vitamins, minerals, and unsaturated fat or a cereal–dairy dietary pattern (rich in dietary fiber, antioxidants, phytochemicals, complex carbohydrate, prebiotics, and probiotics was inversely associated with components of MetS and CRP. Our findings suggested that intake of a vege–seafood dietary pattern or a cereal–dairy dietary pattern decreased the risk of developing MetS and inflammation among middle-aged and older adults with MetS.

3D PATTERN OF BRAIN ABNORMALITIES IN WILLIAMS SYNDROME VISUALIZED USING TENSOR-BASED MORPHOMETRY

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Chiang, Ming-Chang; Reiss, Allan L.; Lee, Agatha D.; Bellugi, Ursula; Galaburda, Albert M.; Korenberg, Julie R.; Mills, Debra L.; Toga, Arthur W.; Thompson, Paul M.

2007-01-01

Williams syndrome (WS) is a neurodevelopmental disorder associated with deletion of ~20 contiguous genes in chromosome band 7q11.23. Individuals with WS exhibit mild to moderate mental retardation, but are relatively more proficient in specific language and musical abilities. We used tensor-based morphometry (TBM) to visualize the complex pattern of gray/white matter reductions in WS, based on fluid registration of structural brain images.

Dietary patterns associated with metabolic syndrome, sociodemographic and lifestyle factors in young adults: the Bogalusa Heart Study

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Our objective was to examine the association between dietary patterns (DP) and risk for metabolic syndrome (MetS); and to identify differences in DP by socio-economic, demographic and lifestyle factors. Dietary intake (from an FFQ), anthropometric/biochemical parameters and sociodemographic/lifestyl...

Measles, Rubella and Varicella IgG Seroprevalence in a Large Refugee Cohort in Germany in 2015: A Cross-Sectional Study.

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Jablonka, Alexandra; Happle, Christine; Wetzke, Martin; Dopfer, Christian; Merkesdal, Sonja; Schmidt, Reinhold E; Behrens, Georg M N; Solbach, Philipp

2017-12-01

The current extent of migration to the European continent is associated with exceptional humanitarian challenges. In 2015, Western Europe faced an enormous immigration of refugees with largely unknown protection status against communicable diseases. To adapt vaccination strategies, we aimed at assessing seroprevalences against three of the most relevant vaccine preventable diseases (VPD) in a large representative cohort. IgG seroprevalences for rubella, varicella (n = 554) and measles (n = 552) were analyzed in inhabitants of a Northern German refugee camp in the summer of 2015. Of the refugees, 77.9% were male (mean age 27.4 years for male and 26.8 years for female migrants). Most refugees came from the Eastern Mediterranean region (83.4%), followed by immigrants from Eastern Europe (7.4%), Africa (4.6%), or other regions (4.5%). The vast majority of migrants were protected against the three VPD: overall IgG seropositivity was 88.5% for measles, 77.9% for rubella and 95.9% for varicella. However, seroprevalences showed age- and origin-dependent differences. Varicella immunity, for example, was lowest in the youngest age group of both genders (10.1% of male/4.5% of female seronegative refugees 49 years of age), and Sudanese migrants displayed particularly low rates of protection against varicella. In accordance with previous studies, our analyses show an overall satisfactory seropositivity against measles, rubella, and varicella in refugees entering Europe during the current exodus. However, this rate is not sufficient for preventing transmission. For example, the rate of 12.9-17.9% female refugees at reproductive age unprotected against measles and the low protection levels against varicella in minors observed in our cohort emphasizes the need for stringent vaccination strategies in refugees coming to Europe during the current crisis.

Unusual presentation of idiopathic sweet′s syndrome in a photodistributed pattern

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Rajesh Verma

2014-01-01

Full Text Available A 40-year-old lady presented with history of multiple red raised painful lesions over her body of 10 days duration. Lesions spread from forearms to arms and back of trunk during the progress of the disease. Associated pain and burning sensation in the lesions was present while working in the sun. Mild to moderate grade fever, malaise, pain over large joints, decreased appetite, and redness of eyes was also present. There was no history of drug intake or other risk-factors. Dermatological examination revealed erythematous papules coalescing to form plaques with a pseudovesicular appearance over the extensor aspect of forearms and photo-exposed areas on the back of trunk. There was a sharp cut-off between the lesions and the photo-protected areas. Investigations revealed anemia, neutrophilic leukocytosis, raised erythrocyte sedimentation rate and positive C reactive protein. Skin biopsy showed characteristic features of Sweet′s syndrome. No evidence for any secondary etiology was found. She responded to a tapering course of oral steroids and topical broad spectrum photo-protection. This case is a very rare instance of idiopathic Sweets syndrome occurring in a photo-distributed pattern.

Rubella seromarkers and determinants of infection among tanzanian children and adolescents in prevaccination Era: Are we in the right track?

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Mariam M Mirambo

2017-01-01

Conclusions: The prevalence of specific rubella IgG antibodies in Tanzania is high and is associated with increase in age, absence of rash, and low SES. Results suggest a need to reconsider upper age limit for vaccination campaigns in developing countries. Screening and vaccinating women may be cost-effective campaign to prevent CRS in developing countries.

Echocardiographic findings in infants with presumed congenital Zika syndrome: Retrospective case series study

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Santos, Cleusa C.; Feitosa, Fabiana G.; Ribeiro, Maria C.; Menge, Paulo; Lira, Izabelle M.

2017-01-01

Objective To report the echocardiographic evaluation of 103 infants with presumed congenital Zika syndrome. Methods An observational retrospective study was performed at Instituto de Medicina Integral Prof. Fernando Figueira (IMIP), Recife, Brazil. 103 infants with presumed congenital Zika syndrome. All infants had microcephaly and head computed tomography findings compatible with congenital Zika syndrome. Zika IgM antibody was detected in cerebrospinal fluid samples of 23 infants. In 80 infants, the test was not performed because it was not available at that time. All infants had negative serology for HIV, syphilis, rubella, cytomegalovirus and toxoplasmosis. A complete transthoracic two-dimensional, M-mode, continuous wave and pulsed wave Doppler and color Doppler echocardiographic (PHILIPS HD11XE or HD15) examination was performed on all infants. Results 14/103 (13.5%) echocardiograms were compatible with congenital heart disease: 5 with an ostium secundum atrial septal defect, 8 had a hemodynamically insignificant small apical muscular ventricular septal defect and one infant with dyspnea had a large membranous ventricular septal defect. The echocardiograms considered normal included 45 infants with a persistent foramen ovale and 16 with a minimum patent ductus arteriosus. Conclusions Preliminarily this study suggests that congenital Zika syndrome may be associated with an increase prevalence of congenital heart disease. However the types of defects noted were septal defects, a proportion of which would not be hemodynamically significant. PMID:28426680

Echocardiographic findings in infants with presumed congenital Zika syndrome: Retrospective case series study.

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Danielle Di Cavalcanti

Full Text Available To report the echocardiographic evaluation of 103 infants with presumed congenital Zika syndrome.An observational retrospective study was performed at Instituto de Medicina Integral Prof. Fernando Figueira (IMIP, Recife, Brazil. 103 infants with presumed congenital Zika syndrome. All infants had microcephaly and head computed tomography findings compatible with congenital Zika syndrome. Zika IgM antibody was detected in cerebrospinal fluid samples of 23 infants. In 80 infants, the test was not performed because it was not available at that time. All infants had negative serology for HIV, syphilis, rubella, cytomegalovirus and toxoplasmosis. A complete transthoracic two-dimensional, M-mode, continuous wave and pulsed wave Doppler and color Doppler echocardiographic (PHILIPS HD11XE or HD15 examination was performed on all infants.14/103 (13.5% echocardiograms were compatible with congenital heart disease: 5 with an ostium secundum atrial septal defect, 8 had a hemodynamically insignificant small apical muscular ventricular septal defect and one infant with dyspnea had a large membranous ventricular septal defect. The echocardiograms considered normal included 45 infants with a persistent foramen ovale and 16 with a minimum patent ductus arteriosus.Preliminarily this study suggests that congenital Zika syndrome may be associated with an increase prevalence of congenital heart disease. However the types of defects noted were septal defects, a proportion of which would not be hemodynamically significant.

Seroprevalence of HIV, HTLV, CMV, HBV and rubella virus infections in pregnant adolescents who received care in the city of Belém, Pará, Northern Brazil.

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Guerra, Aubaneide Batista; Siravenha, Leonardo Quintão; Laurentino, Rogério Valois; Feitosa, Rosimar Neris Martins; Azevedo, Vânia Nakauth; Vallinoto, Antonio Carlos Rosário; Ishak, Ricardo; Machado, Luiz Fernando Almeida

2018-05-16

Prenatal tests are important for prevention of vertical transmission of various infectious agents. The objective of this study was to describe the prevalence of human immunodeficiency virus (HIV), human T-lymphotropic virus (HTLV), hepatitis B virus (HBV), cytomegalovirus (CMV), rubella virus and vaccination coverage against HBV in pregnant adolescents who received care in the city of Belém, Pará, Brazil. A cross-sectional study was performed with 324 pregnant adolescents from 2009 to 2010. After the interview and blood collection, the patients were screened for antibodies and/or antigens against HIV-1/2, HTLV-1/2, CMV, rubella virus and HBV. The epidemiological variables were demonstrated using descriptive statistics with the G, χ 2 and Fisher exact tests. The mean age of the participants was 15.8 years, and the majority (65.4%) had less than 6 years of education. The mean age at first intercourse was 14.4 years, and 60.8% reported having a partner aged between 12 and 14 years. The prevalence of HIV infection was 0.3%, and of HTLV infection was 0.6%. Regarding HBV, 0.6% of the participants had acute infection, 9.9% had a previous infection, 16.7% had vaccine immunity and 72.8% were susceptible to infection. The presence of anti-HBs was greater in adolescent between 12 and 14 years old (28.8%) while the anti-HBc was greater in adolescent between 15 and 18 years old (10.3%). Most of the adolescents presented the IgG antibody to CMV (96.3%) and rubella (92.3%). None of the participants had acute rubella infection, and 2.2% had anti-CMV IgM. This study is the first report of the seroepidemiology of infectious agents in a population of pregnant adolescents in the Northern region of Brazil. Most of the adolescents had low levels of education, were susceptible to HBV infection and had IgG antibodies to CMV and rubella virus. The prevalence of HBV, HIV and HTLV was similar to that reported in other regions of Brazil. However, the presence of these agents in this

THE RESULTS OF STUDY OF THE LEVELS OF SPECIFIC ANTIBODIES TO THE COMBINED INJECTION VACCINES AGAINST INFLUENZA, MEASLES, RUBELLA AND MUMPS AND DT IN CHILDREN WITH CHRONIC PHYSICAL ILLNESS

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S. M. Haritе

2014-01-01

Full Text Available The levels of antibodies to the separate and combined administration of the vaccine plus Grippol® Plus and vaccines against measles, mumps and/or rubella, diphtheria and tetanus (DT in children with chronic medical illnesses, including HIV and organic CNS. Revealed that at low reactogenicity and safety of the vaccine Grippol® Plus, concomitant vaccination does not affect the dynamics of the synthesis (seroprotection, seroconversion, diphtheria, mumps, and rubella antibodies, however, reduces the synthesis of measles antibodies. When combined administration of DT and mumps-measles vaccines + Grippol® Plus suppressed antibody response to a strain of influenza virus A/H3N2. 

Control acelerado de la rubéola y prevención del síndrome de rubéola congénita en las Américas

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Castillo-Solórzano Carlos

2002-01-01

Full Text Available Congenital rubella syndrome (CRS is associated with substantial morbidity and mortality and with high costs. Today, as a result of improved vaccination and epidemiological surveillance efforts directed at eradicating measles from the Western Hemisphere, there has been a notable increase in the ability to detect, prevent, and control rubella and CRS. The importance of these measures is undeniable, and this piece examines the components that are essential in moving ahead to reduce these major public health problems in Latin America and the Caribbean. One step in that direction would be to integrate the surveillance of measles with that of rubella and CRS.

Spiritual well-being in individuals with fibromyalgia syndrome: relationships with symptom pattern variability, uncertainty, and psychosocial adaptation.

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Anema, Cheryl; Johnson, Mary; Zeller, Janice M; Fogg, Louis; Zetterlund, Joan

2009-01-01

This study examined relationships among symptom pattern variability, uncertainty, spiritual well-being, and psychosocial adaptation in individuals with fibromyalgia syndrome (FMS). A survey design was used with 58 individuals with FMS. The Fibromyalgia Symptom Pattern Questionnaire, Mishel Uncertainty in Illness Scale--Community Form, Spiritual Well-Being Scale, and Psychosocial Adjustment to Illness Scale-Self Report were used to collect data. Positive relationships were found between symptom pattern variability and uncertainty and between uncertainty and poor psychosocial adaptation; spiritual well-being moderated the relationship between uncertainty and psychosocial adaptation. A positive sense of well-being aided adaptation to symptoms and uncertainties of FMS. Spiritual well-being had a greater effect on the relationship between symptom pattern variability and uncertainty than expected.

Dietary patterns and the metabolic syndrome in obese and non-obese Framingham women.

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Sonnenberg, Lillian; Pencina, Michael; Kimokoti, Ruth; Quatromoni, Paula; Nam, Byung-Ho; D'Agostino, Ralph; Meigs, James B; Ordovas, Jose; Cobain, Mark; Millen, Barbara

2005-01-01

To examine the relationship between habitual dietary patterns and the metabolic syndrome (MetS) in women and to identify foci for preventive nutrition interventions. Dietary patterns, nutrient intake, cardiovascular disease (CVD), and MetS risk factors were characterized in 1615 Framingham Offspring-Spouse Study (FOS) women. Dietary pattern subgroups were compared for MetS prevalence and CVD risk factor status using logistic regression and analysis of covariance. Analyses were performed overall in women and stratified on obesity status; multivariate models controlled for age, apolipoprotein E (APOE) genotypes, and CVD risk factors. Food and nutrient profiles and overall nutritional risk of five non-overlapping habitual dietary patterns of women were identified including Heart Healthier, Lighter Eating, Wine and Moderate Eating, Higher Fat, and Empty Calories. Rates of hypertension and low high-density lipoprotein levels were high in non-obese women, but individual MetS risk factor levels were substantially increased in obese women. Overall MetS risk varied by dietary pattern and obesity status, independently of APOE and CVD risk factors. Compared with obese or non-obese women and women overall with other dietary patterns, MetS was highest in those with the Empty Calorie pattern (contrast p value: p<0.05). This research shows the independent relationship between habitual dietary patterns and MetS risk in FOS women and the influence of obesity status. High overall MetS risk and the varying prevalence of individual MetS risk factors in female subgroups emphasize the importance of preventive nutrition interventions and suggest potential benefits of targeted behavior change in both obese and non-obese women by dietary pattern.

Characterization of cell lines stably transfected with rubella virus replicons

International Nuclear Information System (INIS)

Tzeng, Wen-Pin; Xu, Jie; Frey, Teryl K.

2012-01-01

Rubella virus (RUBV) replicons expressing a drug resistance gene and a gene of interest were used to select cell lines uniformly harboring the replicon. Replicons expressing GFP and a virus capsid protein GFP fusion (C-GFP) were compared. Vero or BHK cells transfected with either replicon survived drug selection and grew into a monolayer. However, survival was ∼9-fold greater following transfection with the C-GFP-replicon than with the GFP-expressing replicon and while the C-GFP-replicon cells grew similarly to non-transfected cells, the GFP-replicon cells grew slower. Neither was due to the ability of the CP to enhance RNA synthesis but survival during drug selection was correlated with the ability of CP to inhibit apoptosis. Additionally, C-GFP-replicon cells were not cured of the replicon in the absence of drug selection. Interferon-alpha suppressed replicon RNA and protein synthesis, but did not cure the cells, explaining in part the ability of RUBV to establish persistent infections.

Characterization of cell lines stably transfected with rubella virus replicons

Energy Technology Data Exchange (ETDEWEB)

Tzeng, Wen-Pin; Xu, Jie [Department of Biology, Georgia State University, P.O. Box 4010, Atlanta GA 30302-4010 (United States); Frey, Teryl K., E-mail: tfrey@gsu.edu [Department of Biology, Georgia State University, P.O. Box 4010, Atlanta GA 30302-4010 (United States)

2012-07-20

Rubella virus (RUBV) replicons expressing a drug resistance gene and a gene of interest were used to select cell lines uniformly harboring the replicon. Replicons expressing GFP and a virus capsid protein GFP fusion (C-GFP) were compared. Vero or BHK cells transfected with either replicon survived drug selection and grew into a monolayer. However, survival was {approx}9-fold greater following transfection with the C-GFP-replicon than with the GFP-expressing replicon and while the C-GFP-replicon cells grew similarly to non-transfected cells, the GFP-replicon cells grew slower. Neither was due to the ability of the CP to enhance RNA synthesis but survival during drug selection was correlated with the ability of CP to inhibit apoptosis. Additionally, C-GFP-replicon cells were not cured of the replicon in the absence of drug selection. Interferon-alpha suppressed replicon RNA and protein synthesis, but did not cure the cells, explaining in part the ability of RUBV to establish persistent infections.

Prenatal diagnosis of fetal syndromes

International Nuclear Information System (INIS)

Murthy, BS Rama

2008-01-01

A syndrome is a pattern of multiple anomalies arising due to a single known causative factor. Ultrasonography has enabled us to recognize many fetal anomalies and dysmorphic features. Recognition of the anomaly pattern leads to the diagnosis of a particular syndrome. This enables us to counsel prospective parents and aids in management. We present a selection of fetal syndromes in the form of a pictorial essay

Histopathological patterns in paediatric idiopathic steroid resistant nephrotic syndrome

International Nuclear Information System (INIS)

Shah, S.S.H.; Akhtar, N.; Rehman, M.F.U.; Sunbleen, F.; Ahmed, T.

2015-01-01

Background: Steroid-resistant nephrotic syndrome (SRNS) is a common problem but difficult to treat for pediatric nephrologists. Due to paucity of studies done in few centres in southern Pakistan regarding the histopathological aspects in paediatric patients with SRNS, this study was conducted to determine the histopathological spectrum in children with SRNS at our centre. Method: This descriptive study has been conducted at the Nephrology department, The Children's Hospital Lahore from February 2014 to January 2015. Based upon history, physical examination and laboratory results, all patients diagnosed as idiopathic SRNS were included in the study and renal biopsy was done to determine the underlying pathology. Histopathology reports were retrieved and data analysis done using SPSS-20.0. Results: There were a total of 96 patients, 64 (66.7 percentage) males and 32 (33.3 percentage) females. The age range was from 0.80 to 15 years with mean age of presentation being 6.34+3.75 years. The most common histo-pathological pattern was mesangio-proliferative Glomerulonephritis found in 79 (82.3 percentage) cases followed by Focal segmental glomerulosclerosis (FSGS) in 9 (9.4 percentage) patients while Minimal change disease (MCD) was seen in 5 (5.2 percentage) subjects. Conclusion: Mesangioproliferative glomerulonephritis is the most common histological pattern seen in children presenting with idiopathic SRNS at our centre followed by FSGS and MCD. (author)

Alport's syndrome with focal segmental glomerulosclerosis lesion - Pattern to recognize.

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Alsahli, Afnan A; Alshahwan, Sara I; Alotaibi, Amal O; Alsaad, Khaled O; Aloudah, Nourah; Farooqui, Mahfooz; Al Sayyari, Abdullah A

2018-01-01

The association between Alport's syndrome (AS) and focal segmental glomerulosclerosis (FSGS) in the same patient is complex and rarely reported. We report a case of a 42-year-old male presenting with proteinuria, microscopic hematuria, elevated serum creatinine and hypertension with unremarkable physical examination apart from obesity. The renal biopsy showed well-established FSGS pattern of injury with mild interstitial fibrosis and tubular atrophy, while the electron microscopic examination demonstrated glomerular basement membranes (GBM) changes compatible with AS. AS can be complicated by segmental glomerular scarring, which can mimic primary FSGS, while familial FSGS can result from mutations in collagen IV network of the GBM. This overlap can complicate histopathological interpretation of renal biopsy, which should be accompanied by mutational analysis for accurate diagnosis and proper therapeutic intervention.

Gait Pattern in Two Rare Genetic Conditions Characterized by Muscular Hypotonia: Ehlers-Danlos and Prader-Willi Syndrome

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Cimolin, Veronica; Galli, Manuela; Vismara, Luca; Grugni, Graziano; Camerota, Filippo; Celletti, Claudia; Albertini, Giorgio; Rigoldi, Chiara; Capodaglio, Paolo

2011-01-01

This study aimed to quantify and compare the gait pattern in Ehlers-Danlos (EDS) and Prader-Willi syndrome (PWS) patients to provide data for developing evidence-based rehabilitation strategies. Twenty EDS and 19 PWS adult patients were evaluated with an optoelectronic system and force platforms for measuring kinematic and kinetic parameters…

Aberrant distribution patterns of corneodesmosomal components of tape-stripped corneocytes in atopic dermatitis and related skin conditions (ichthyosis vulgaris, Netherton syndrome and peeling skin syndrome type B).

Science.gov (United States)

Igawa, Satomi; Kishibe, Mari; Honma, Masaru; Murakami, Masamoto; Mizuno, Yuki; Suga, Yasushi; Seishima, Mariko; Ohguchi, Yuka; Akiyama, Masashi; Hirose, Kenji; Ishida-Yamamoto, Akemi; Iizuka, Hajime

2013-10-01

Atopic dermatitis (AD), Netherton syndrome (NS) and peeling skin syndrome type B (PSS) may show some clinical phenotypic overlap. Corneodesmosomes are crucial for maintaining stratum corneum integrity and the components' localization can be visualized by immunostaining tape-stripped corneocytes. In normal skin, they are detected at the cell periphery. To determine whether AD, NS, PSS and ichthyosis vulgaris (IV) have differences in the corneodesmosomal components' distribution and corneocytes surface areas. Corneocytes were tape-stripped from a control group (n=12) and a disease group (37 AD cases, 3 IV cases, 4 NS cases, and 3 PSS cases), and analyzed with immunofluorescent microscopy. The distribution patterns of corneodesmosomal components: desmoglein 1, corneodesmosin, and desmocollin 1 were classified into four types: peripheral, sparse diffuse, dense diffuse and partial diffuse. Corneocyte surface areas were also measured. The corneodesmosome staining patterns were abnormal in the disease group. Other than in the 3 PSS cases, all three components showed similar patterns in each category. In lesional AD skin, the dense diffuse pattern was prominent. A high rate of the partial diffuse pattern, loss of linear cell-cell contacts, and irregular stripping manners were unique to NS. Only in PSS was corneodesmosin staining virtually absent. The corneocyte surface areas correlated significantly with the rate of combined sparse and dense diffuse patterns of desmoglein 1. This method may be used to assess abnormally differentiated corneocytes in AD and other diseases tested. In PSS samples, tape stripping analysis may serve as a non-invasive diagnostic test. Copyright © 2013 Japanese Society for Investigative Dermatology. Published by Elsevier Ireland Ltd. All rights reserved.

Patterns of structural reorganization of the corticospinal tract in children with Sturge-Weber syndrome

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Kamson, David O.; Juhász, Csaba; Shin, Joseph; Behen, Michael E.; Guy, William C.; Chugani, Harry T.; Jeong, Jeong-Won

2014-01-01

Background Reorganization of the corticospinal tract (CST) after early damage can limit motor deficit. In this study, we explored patterns of structural CST reorganization in children with Sturge-Weber syndrome. Methods Five children (age 1.5-7 years) with motor deficit due to unilateral Sturge-Weber syndrome were studied prospectively and longitudinally (1-2 years follow-up). CST segments belonging to hand and leg movements were separated, and their volume was measured by diffusion tensor imaging (DTI) tractography using a recently validated method. CST segmental volumes were normalized and compared between the SWS children and age-matched healthy controls. Volume changes during follow-up were also compared to clinical motor symptoms. Results In the SWS children, hand-related (but not leg-related) CST volumes were consistently decreased in the affected cerebral hemisphere at baseline. At follow-up, two distinct patterns of hand CST volume changes emerged: (i) Two children with extensive frontal lobe damage showed a CST volume decrease in the lesional hemisphere and a concomitant increase in the non-lesional (contralateral) hemisphere. These children developed good hand grasp but no fine motor skills. (ii) The three other children, with relative sparing of the frontal lobe, showed an interval increase of the normalized hand CST volume in the affected hemisphere; these children showed no gross motor deficit at follow-up. Conclusions DTI tractography can detect differential abnormalities in the hand CST segment both ipsi- and contralateral to the lesion. Interval increase in the CST hand segment suggests structural reorganization, whose pattern may determine clinical motor outcome and could guide strategies for early motor intervention. PMID:24507695

A population-based study of measles, mumps and rubella vaccination and autism

DEFF Research Database (Denmark)

Madsen, Kreesten Meldgaard; Hviid, Anders; Vestergaard, Mogens

2002-01-01

Background It has been suggested that vaccination against measles, mumps, and rubella (MMR) is a cause of autism. Methods We conducted a retrospective cohort study of all children born in Denmark from January 1991 through December 1998. The cohort was selected on the basis of data from the Danish...... Civil Registration System, which assigns a unique identification number to every live-born infant and new resident in Denmark. MMR-vaccination status was obtained from the Danish National Board of Health. Information on the children’s autism status was obtained from the Danish Psychiatric Central...... the age at the time of vaccination, the time since vaccination, or the date of vaccination and the development of autistic disorder. Conclusions This study provides strong evidence against the hypothesis that MMR vaccination causes autism....

A population-based study of measles, mumps and rubella vaccination and autism

DEFF Research Database (Denmark)

Madsen, Kreesten Meldgaard; Hviid, Anders; Vestergaard, Mogens

2002-01-01

Background It has been suggested that vaccination against measles, mumps, and rubella (MMR) is a cause of autism. Methods We conducted a retrospective cohort study of all children born in Denmark from January 1991 through December 1998. The cohort was selected on the basis of data from the Danish...... the age at the time of vaccination, the time since vaccination, or the date of vaccination and the development of autistic disorder. Conclusions This study provides strong evidence against the hypothesis that MMR vaccination causes autism....... Civil Registration System, which assigns a unique identification number to every live-born infant and new resident in Denmark. MMR-vaccination status was obtained from the Danish National Board of Health. Information on the children’s autism status was obtained from the Danish Psychiatric Central...

Lymphoscintigraphy in paediatric patients for suspected lymphoedema: normal variants, abnormal and syndromic patterns

International Nuclear Information System (INIS)

Pascual, T.; Howman-Giles, R.; Martin, H.

2009-01-01

Full text: Background: Lymphoscintigraphy (LS) is the diagnostic test of choice differentiating lymphoedema from other causes of extremity swelling. The LS patterns in normal and congenital lymphoedema in the paediatric population are not well defined. The impact of LS on clinical decision making is also not well reported. Aims: 1. define normal LS patterns in the pediatric population 2. describe types of abnormality (aplasia, hypoplasia, hyperplasia/dilated system) 3. describe LS patterns in syndromic lymphatic vascular disease 4. correlate LS with clinical impact on patient management. Methods: Retrospective review of all paediatric patients who had LS from July 1996-April 2008 was undertaken. Indications, sites of abnormality, LS patterns and clinical outcome were reviewed. Results: 118 patients (3mths-21yrs, mean 6 yrs) underwent LS. Normal LS patterns and variations were identified in 57 pts (48%). Sixty-one scans (52%) were abnormal showing lymph node aplasia (11%), hypoplasia (17%), mixed-pattern (8%), hyperplasia/dilated system (4%) and other patterns ie intestinal/pulmonary lymphangiectasia and vascual lymphatic malformations (11%). Patients with no signs of lymphoedema may still have aplasia or hypoplasia on LS. Dermal back flow is not always seen in lymphoedema. Management impact related to diagnosis and potential for development of lymphoedema in other limbs, differentiation of lymphoedema in patients with other vascular anomalies, stratification for lymphoedema therapy or referral to the dysmorphology clinic. Conclusion: LS is a valuable tool in the evaluation of lymphoedema in pediatric patients. Recognition of scan patterns in patients with suspected lymphoedema or lymphatic vascular diseases is essential as it plays a major role in the clinical management.

Lack of differential pattern in central adiposity and metabolic syndrome in Barrett's esophagus and gastroesophageal reflux disease.

LENUS (Irish Health Repository)

Healy, L A

2012-02-01

Obesity is an established risk factor for esophageal adenocarcinoma, although the mechanism is unclear. A pathway from reflux to inflammation through metaplasia is the dominant hypothesis, and an added role relating to visceral adiposity and the metabolic syndrome has been mooted in Barrett\\'s esophagus (BE) patients. Whether BE differs from gastroesophageal reflux disease (GERD) in obesity and metabolic syndrome profiles is unclear, and this was the focus of this study. Patients with proven BE or GERD were randomly selected from the unit data registry and invited to attend for metabolic syndrome screening, anthropometry studies including segmental body composition analysis, and laboratory tests including fasting lipids, insulin, and C-reactive protein. Metabolic syndrome was defined using the National Cholesterol Education Program (NCEP) and the International Diabetes Federation (IDF) criteria. One hundred and eighteen BE patients and 113 age- and sex-matched GERD controls were studied. The incidence of obesity (body mass index >30 kg\\/m(2)) was 36% and 38%, respectively, with the pattern of fat deposition predominantly central and an estimated trunk fat mass of 13 and 14 kg, respectively. Using the NCEP criteria, metabolic syndrome was significantly more common in the BE cohort (30% vs 20%, P < 0.05), but there was no significant difference using IDF criteria (42% vs 37%, P= 0.340). Central obesity and the metabolic syndrome are common in both Barrett\\'s and GERD cohorts, but not significantly different, suggesting that central obesity and the metabolic syndrome does not per se impact on the development of BE in a reflux population. In BE, the importance of obesity and the metabolic syndrome in disease progression merits further study.

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... Hydrocephalus Intrauterine growth retardation (IUGR) Premature birth Rarer causes: Achondroplasia Apert syndrome Cleidocranial dysostosis Congenital rubella Neonatal hypothyroidism Osteogenesis imperfecta Rickets When to Contact a Medical ...

THE INFLUENCE OF DOUBLE IMMUNIZATION ON MORBIDITY OF MEASLES, MUMPS AND RUBELLA IN THE NORTH-WEST REGION OF RUSSIA

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L. V. Lyalina

2012-01-01

Full Text Available Abstract. The influence of double immunization on measles, mumps and rubella incidence in the North-West Federal District (North-West Russia has been analyzed. Due to the vaccination of the population morbidity of these infections in the region has decreased significantly. The necessity to improve the surveillance system due to changes in the manifestations of the epidemic process particularly connected with increasing of proportion of adults among patients has been proposed.

Phase analysis of regional and global ventricular contraction patterns in Wolff-Parkinson-White syndrome. Assessment by radionuclide ventriculography

Energy Technology Data Exchange (ETDEWEB)

Konishi, Tokuji; Koyama, Takao; Ichikawa, Takehiko and others

1989-04-01

Multigated blood pool scintigraphy was performed in 20 normal subjects and 39 patients with various intraventricular conduction abnormalities, including 25 patients with Wolff-Parkinson-White (WPW) syndrome. Cardiac imaging was performed in the modified left anterior oblique, right anterior oblique, and left lateral projections. In WPW syndrome, early contraction sites which were not seen in normal subjects were detected at the ventricular base in phase images. These anomalous early contraction sites disappeared after successful suppression of conduction through an accessory pathway by intravenous procainamide. These sites are believed to correspond to the location of the bundle of Kent and were consistent with the electrocardiographic findings. Phase mapping is a suitable noninvasive method to locate the position of the bundle of Kent and evaluate the ventricular contraction pattern in WPW syndrome and other intraventricular conduction abnormalities. (author).

Family perspectives in lynch syndrome becoming a family at risk, patterns of communication and influence on relations

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Bartuma Katarina

2012-05-01

Full Text Available Abstract Background A growing number of individuals are diagnosed with hereditary cancer. Though increased levels of anxiety and depression have been demonstrated around the time of genetic counselling, most individuals handle life at increased risk well. Data have, however, been collected on individual basis, which led us to focus on family perspectives of hereditary cancer. Methods Lynch syndrome represents a major type of hereditary colorectal and gynaecological cancer. We preformed open-ended interviews with 27 informants from 9 Lynch syndrome families. Inductive content analysis revealed three major themes: transition to a risk family, patterns of communication and influence on family relations and individual roles. Results Family members described how learning about Lynch syndrome shifted focus from daily issues to concerns about cancer. Changes in communication related to difficulties in talking to children about heredity and informing new family members and distant relatives about an increased risk of cancer. Influence on relations was exemplified by family members taking on different roles, e.g. females often being responsible for coordinating information about heredity and providing support. Families in which members had experienced cancer at young age typically informed children soon after learning about heredity and at young age, whereas families with experience of cancer at higher age postponed information and thereby also genetic counselling. Conclusions Three major family perspectives are described in Lynch syndrome families; becoming a risk family, patterns of communication and influence on family relations. Since these issues are central, our findings suggests that such family perspectives should be considered during genetic counselling in order to contribute to information spread, help family members cope with the increased risk, and motivate family members at risk to undergo surveillance.

New methodologies for measuring Brugada ECG patterns cannot differentiate the ECG pattern of Brugada syndrome from Brugada phenocopy.

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Gottschalk, Byron H; Garcia-Niebla, Javier; Anselm, Daniel D; Jaidka, Atul; De Luna, Antoni Bayés; Baranchuk, Adrian

2016-01-01

Brugada phenocopies (BrP) are clinical entities characterized by ECG patterns that are identical to true Brugada syndrome (BrS), but are elicited by various clinical circumstances. A recent study demonstrated that the patterns of BrP and BrS are indistinguishable under the naked eye, thereby validating the concept that the patterns are identical. The aim of our study was to determine whether recently developed ECG criteria would allow for discrimination between type-2 BrS ECG pattern and type-2 BrP ECG pattern. Ten ECGs from confirmed BrS (aborted sudden death, transformation into type 1 upon sodium channel blocking test and/or ventricular arrhythmias, positive genetics) cases and 9 ECGs from confirmed BrP were included in the study. Surface 12-lead ECGs were scanned, saved in JPEG format for blind measurement of two values: (i) β-angle; and (ii) the base of the triangle. Cut-off values of ≥58° for the β-angle and ≥4mm for the base of the triangle were used to determine the BrS ECG pattern. Mean values for the β-angle in leads V1 and V2 were 66.7±25.5 and 55.4±28.1 for BrS and 54.1±26.5 and 43.1±16.1 for BrP respectively (p=NS). Mean values for the base of the triangle in V1 and V2 were 7.5±3.9 and 5.7±3.9 for BrS and 5.6±3.2 and 4.7±2.7 for BrP respectively (p=NS). The β-angle had a sensitivity of 60%, specificity of 78% (LR+ 2.7, LR- 0.5). The base of the triangle had a sensitivity of 80%, specificity of 40% (LR+ 1.4, LR- 0.5). New ECG criteria presented relatively low sensitivity and specificity, positive and negative predictive values to discriminate between BrS and BrP ECG patterns, providing further evidence that the two patterns are identical. Copyright © 2016 Elsevier Inc. All rights reserved.

Effect of jet injection on infectivity of measles, mumps, and rubella vaccine in a bench model.

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Coughlin, Melissa M; Collins, Marcus; Saxon, Gene; Jarrahian, Courtney; Zehrung, Darin; Cappello, Chris; Dhere, Rajeev; Royals, Michael; Papania, Mark; Rota, Paul A

2015-08-26

Disposable-syringe jet injectors (DSJIs) with single-use, auto disable, needle-free syringes offer the opportunity to avoid hazards associated with injection using a needle and syringe. Clinical studies have evaluated DSJIs for vaccine delivery, but most studies have focused on inactivated, subunit, or DNA vaccines. Questions have been raised about possible damage to live attenuated viral vaccines by forces generated during the jet injection process. This study examines the effect of jet injection on the integrity of measles, mumps, and rubella vaccine (MMR), measured by viral RNA content and infectivity. Three models of DSJIs were evaluated, each generating a different ejection force. Following jet injection, the RNA content for each of the vaccine components was measured using RT-qPCR immediately after injection and following passage in Vero cells. Jet injection was performed with and without pig skin as a simulation of human skin. There was little to no reduction of RNA content immediately following jet injection with any of the three DSJIs. Samples passaged in Vero cells showed no loss in infectivity of the measles vaccine following jet injection. Mumps vaccine consistently showed increased replication following jet injection. Rubella vaccine showed no loss after jet injection alone but some infectivity loss following injection through pig skin with two of the devices. Overall, these data demonstrated that forces exerted on a live attenuated MMR vaccine did not compromise vaccine infectivity. The bench model and protocol used in this study can be applied to evaluate the impact of jet injection on other live virus vaccines. Published by Elsevier Ltd.

Safety and immunogenicity of inactivated poliovirus vaccine when given with measles-rubella combined vaccine and yellow fever vaccine and when given via different administration routes: a phase 4, randomised, non-inferiority trial in The Gambia.

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Clarke, Ed; Saidu, Yauba; Adetifa, Jane U; Adigweme, Ikechukwu; Hydara, Mariama Badjie; Bashorun, Adedapo O; Moneke-Anyanwoke, Ngozi; Umesi, Ama; Roberts, Elishia; Cham, Pa Modou; Okoye, Michael E; Brown, Kevin E; Niedrig, Matthias; Chowdhury, Panchali Roy; Clemens, Ralf; Bandyopadhyay, Ananda S; Mueller, Jenny; Jeffries, David J; Kampmann, Beate

2016-08-01

The introduction of the inactivated poliovirus vaccine (IPV) represents a crucial step in the polio eradication endgame. This trial examined the safety and immunogenicity of IPV given alongside the measles-rubella and yellow fever vaccines at 9 months and when given as a full or fractional dose using needle and syringe or disposable-syringe jet injector. We did a phase 4, randomised, non-inferiority trial at three periurban government clinics in west Gambia. Infants aged 9-10 months who had already received oral poliovirus vaccine were randomly assigned to receive the IPV, measles-rubella, and yellow fever vaccines, singularly or in combination. Separately, IPV was given as a full intramuscular or fractional intradermal dose by needle and syringe or disposable-syringe jet injector at a second visit. The primary outcomes were seroprevalence rates for poliovirus 4-6 weeks post-vaccination and the rate of seroconversion between baseline and post-vaccination serum samples for measles, rubella, and yellow fever; and the post-vaccination antibody titres generated against each component of the vaccines. We did a per-protocol analysis with a non-inferiority margin of 10% for poliovirus seroprevalence and measles, rubella, and yellow fever seroconversion, and (1/3) log2 for log2-transformed antibody titres. This trial is registered with ClinicalTrials.gov, number NCT01847872. Between July 10, 2013, and May 8, 2014, we assessed 1662 infants for eligibility, of whom 1504 were enrolled into one of seven groups for vaccine interference and one of four groups for fractional dosing and alternative route of administration. The rubella and yellow fever antibody titres were reduced by co-administration but the seroconversion rates achieved non-inferiority in both cases (rubella, -4·5% [95% CI -9·5 to -0·1]; yellow fever, 1·2% [-2·9 to 5·5]). Measles and poliovirus responses were unaffected (measles, 6·8% [95% CI -1·4 to 14·9]; poliovirus serotype 1, 1·6% [-6·7 to 4·7

High-resolution MRI vessel wall imaging: spatial and temporal patterns of reversible cerebral vasoconstriction syndrome and central nervous system vasculitis.

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Obusez, E C; Hui, F; Hajj-Ali, R A; Cerejo, R; Calabrese, L H; Hammad, T; Jones, S E

2014-08-01

High-resolution MR imaging is an emerging tool for evaluating intracranial artery disease. It has an advantage of defining vessel wall characteristics of intracranial vascular diseases. We investigated high-resolution MR imaging arterial wall characteristics of CNS vasculitis and reversible cerebral vasoconstriction syndrome to determine wall pattern changes during a follow-up period. We retrospectively reviewed 3T-high-resolution MR imaging vessel wall studies performed on 26 patients with a confirmed diagnosis of CNS vasculitis and reversible cerebral vasoconstriction syndrome during a follow-up period. Vessel wall imaging protocol included black-blood contrast-enhanced T1-weighted sequences with fat suppression and a saturation band, and time-of-flight MRA of the circle of Willis. Vessel wall characteristics including enhancement, wall thickening, and lumen narrowing were collected. Thirteen patients with CNS vasculitis and 13 patients with reversible cerebral vasoconstriction syndrome were included. In the CNS vasculitis group, 9 patients showed smooth, concentric wall enhancement and thickening; 3 patients had smooth, eccentric wall enhancement and thickening; and 1 patient was without wall enhancement and thickening. Six of 13 patients had follow-up imaging; 4 patients showed stable smooth, concentric enhancement and thickening; and 2 patients had resoluton of initial imaging findings. In the reversible cerebral vasoconstriction syndrome group, 10 patients showed diffuse, uniform wall thickening with negligible-to-mild enhancement. Nine patients had follow-up imaging, with 8 patients showing complete resolution of the initial findings. Postgadolinium 3T-high-resolution MR imaging appears to be a feasible tool in differentiating vessel wall patterns of CNS vasculitis and reversible cerebral vasoconstriction syndrome changes during a follow-up period. © 2014 by American Journal of Neuroradiology.

The effectiveness of measles-mumps-rubella (MMR) vaccination in the prevention of pediatric hospitalizations for targeted and untargeted infections: A retrospective cohort study.

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La Torre, Giuseppe; Saulle, Rosella; Unim, Brigid; Meggiolaro, Angela; Barbato, Angelo; Mannocci, Alice; Spadea, Antonietta

2017-08-03

To evaluate the effectiveness of the measles-mumps-rubella (MMR) vaccine in reducing hospitalizations for infectious disease, targeted and not targeted, as well as from respiratory diseases in children in Rome. The cohort was recomposed through record linkage of 2 archives (vaccination register and hospital discharge records. The analysis included 11,004 children. 20.9% did not receive the MMR vaccination, 49% and 30.1% received one and 2 doses. There were no hospitalizations for rubella, 2 for mumps, and 12 for measles. The vaccine was highly protective against measles and mumps hospitalizations (HR = 0.10; 95% CI: 0.03.0.34). Regarding all infectious diseases there were 414 hospitalizations, and the vaccine was protective (HR = 0.29; 95% CI: 0.25 to 0.34). Concerning respiratory diseases, there were 809 admissions (7.4%), and the vaccine was highly protective (HR: 0.18; 95% CI: 0.07 to 0.48). MMR vaccination is effective for the primary prevention of target and not targeted infectious diseases and may also limit hospitalizations for respiratory diseases.

Are ECG abnormalities in Noonan syndrome characteristic for the syndrome?

NARCIS (Netherlands)

Raaijmakers, R.; Noordam, C.; Noonan, J.A.; Croonen, E.A.; Burgt, C.J.A.M. van der; Draaisma, J.M.T.

2008-01-01

Of all patients with Noonan syndrome, 50-90% have one or more congenital heart defects. The most frequent occurring are pulmonary stenosis (PS) and hypertrophic cardiomyopathy. The electrocardiogram (ECG) of a patient with Noonan syndrome often shows a characteristic pattern, with a left axis

Epilepsy in fragile-X-syndrome mimicking panayiotopoulos syndrome: Description of three patients.

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Bonanni, Paolo; Casellato, Susanna; Fabbro, Franco; Negrin, Susanna

2017-10-01

Fragile-X-syndrome is the most common cause of inherited intellectual disability. Epilepsy is reported to occur in 10-20% of individuals with Fragile-X-syndrome. A frequent seizure/electroencephalogram (EEG) pattern resembles that of benign rolandic epilepsy. We describe the clinical features, EEG findings and evolution in three patients affected by Fragile-X-syndrome and epilepsy mimicking Panayiotopoulos syndrome. Age at seizure onset was between 4 and about 7 years. Seizures pattern comprised a constellation of autonomic symptoms with unilateral deviation of the eyes and ictal syncope. Duration of the seizures could be brief or lengthy. Interictal EEGs revealed functional multifocal abnormalities. The evolution was benign in all patients with seizures remission before the age of 14. This observation expands the spectrum of benign epileptic phenotypes present in Fragile-X-syndrome and may be quite helpful in guiding anticonvulsant management and counseling families as to expectations regarding seizure remission. © 2017 Wiley Periodicals, Inc.

The traditional Korean dietary pattern is associated with decreased risk of metabolic syndrome: findings from the Korean National Health and Nutrition Examination Survey, 1998-2009.

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Lee, Kyung Won; Cho, Mi Sook

2014-01-01

The traditional Korean diet has several healthy components, including abundant vegetables, fermented foods, a variety of foodstuffs, and a balance of animal and vegetable food intake. Although the traditional Korean diet has many healthy components, few studies have been conducted on the health advantages of the Korean dietary pattern. This study is intended to clarify the relationship between Korean dietary patterns and chronic diseases using the Integrated Korean Dietary Pattern Score (I-KDPS). I-KDPS is an index for measuring Korean dietary patterns based on traditional Korean meals and reflects the complex and multifaceted characteristics of Korean food culture. I-KDPS is composed of seven items to measure the level of balance and adequacy of Korean food consumption, with a maximum score of 60. When I-KDPS was applied to the Korean National Health and Nutrition Examination Survey (1998-2009), a nationwide survey, I-KDPS was closely related to the risk of metabolic syndrome. Even though there were a few differences among the years surveyed, the risk of metabolic syndrome, obesity, hypertension, and hypertriglyceridemia significantly decreased as I-KDPS increased. These results indicate that risk of diseases, including metabolic syndrome, decreases in individuals adhering to traditional Korean dietary patterns in adequate levels and those who eat a balanced diet. The result of this study shows that the traditional Korean table setting, which comprises side dishes, including seasoned vegetables, grilled dishes, and fermented products with cooked rice (bap), soup (guk), and kimchi, contains traits that help prevent metabolic syndrome. I-KDPS coupled with the basic study of the healthfulness of the Korean dietary lifestyle is expected to help establish a foundation for continuous development of health promoting Korean foods and dietary culture.

Development of disease-specific growth charts in Turner syndrome and Noonan syndrome

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Tsuyoshi Isojima

2017-12-01

Full Text Available Many congenital diseases are associated with growth failure, and patients with these diseases have specific growth patterns. As the growth patterns of affected individuals differ from those of normal populations, it is challenging to detect additional conditions that can influence growth using standard growth charts. Disease-specific growth charts are thus very useful tools and can be helpful for understanding the growth pattern and pathogenesis of congenital diseases. In addition, disease-specific growth charts allow doctors to detect deviations from the usual growth patterns for early diagnosis of an additional condition and can be used to evaluate the effects of growth-promoting treatment for patients. When developing these charts, factors that can affect the reliability of the charts should be considered. These factors include the definition of the disease with growth failure, selection bias in the measurements used to develop the charts, secular trends of the subjects, the numbers of subjects of varying ages and ethnicities, and the statistical method used to develop the charts. In this review, we summarize the development of disease-specific growth charts for Japanese individuals with Turner syndrome and Noonan syndrome and evaluate the efforts to collect unbiased measurements of subjects with these diseases. These charts were the only available disease-specific growth charts of Turner syndrome and Noonan syndrome for Asian populations and were developed using a Japanese population. Therefore, when these charts are adopted for Asian populations other than Japanese, different growth patterns should be considered.

Development of disease-specific growth charts in Turner syndrome and Noonan syndrome.

Science.gov (United States)

Isojima, Tsuyoshi; Yokoya, Susumu

2017-12-01

Many congenital diseases are associated with growth failure, and patients with these diseases have specific growth patterns. As the growth patterns of affected individuals differ from those of normal populations, it is challenging to detect additional conditions that can influence growth using standard growth charts. Disease-specific growth charts are thus very useful tools and can be helpful for understanding the growth pattern and pathogenesis of congenital diseases. In addition, disease-specific growth charts allow doctors to detect deviations from the usual growth patterns for early diagnosis of an additional condition and can be used to evaluate the effects of growth-promoting treatment for patients. When developing these charts, factors that can affect the reliability of the charts should be considered. These factors include the definition of the disease with growth failure, selection bias in the measurements used to develop the charts, secular trends of the subjects, the numbers of subjects of varying ages and ethnicities, and the statistical method used to develop the charts. In this review, we summarize the development of disease-specific growth charts for Japanese individuals with Turner syndrome and Noonan syndrome and evaluate the efforts to collect unbiased measurements of subjects with these diseases. These charts were the only available disease-specific growth charts of Turner syndrome and Noonan syndrome for Asian populations and were developed using a Japanese population. Therefore, when these charts are adopted for Asian populations other than Japanese, different growth patterns should be considered.

Prevalence of Inadequate Immunity to Measles, Mumps, Rubella, and Varicella in MLB and NBA Athletes.

Science.gov (United States)

Conway, Justin J; Toresdahl, Brett G; Ling, Daphne I; Boniquit, Nicole T; Callahan, Lisa R; Kinderknecht, James J

2018-05-01

Multiple outbreaks of vaccine-preventable viral diseases have occurred in professional sports in recent years. Currently, there is no established protocol for vaccination or immunity screening for professional athletes. There are significant differences in the prevalence of inadequate immunity dependent on age, sport, country of birth, and participation in collegiate sports. Cross-sectional cohort study. Level 4. A sample of Major League Baseball (MLB) and National Basketball Association (NBA) players were screened for serologic evidence of immunity to measles, mumps, rubella, and varicella prior to the 2015 and 2016 seasons. The results were designated as adequate (immune) or inadequate (equivocal or nonimmune) based on laboratory criteria. Comparison with an age-matched control group was performed using data from the National Health and Nutrition Examination Survey (NHANES). A total of 98 athletes (62 MLB, 36 NBA) were screened. The prevalence of inadequate immunity for any virus was 35.5% in MLB players and 33.3% in NBA players. There was a significantly greater risk of inadequate immunity to rubella (risk ratio, 6.38; P < 0.01) and varicella (risk ratio, 4.21; P < 0.01) in athletes compared with the age-matched NHANES population. Our analysis did not reveal differences in rates of immunity based on sport, country of birth (US born vs international), or participation in college athletics. There was a lower rate of inadequate immunity to varicella with increasing age (odds ratio, 0.72; P = 0.05). One-third of athletes studied had inadequate immunity to 1 of the 4 viruses tested. Younger players had a significantly greater risk of inadequate immunity to varicella. Birth outside the US and lack of participation in college athletics were not found to influence immunity rates. These results can inform the development of future screening programs to prevent outbreaks of viral infections in professional athletes.

Salivary SPECT and factor analysis in Sjoegren's syndrome

International Nuclear Information System (INIS)

Nakamura, T.; Oshiumi, Y.; Yonetsu, K.; Muranaka, T.; Sakai, K.; Kanda, S.; National Fukuoka Central Hospital

1991-01-01

Salivary SPECT and factor analysis in Sjoegren's syndrome were performed in 17 patients and 6 volunteers as controls. The ability of SPECT to detect small differences in the level of uptake can be used to separate glands from background even when uptake is reduced as in the patients with Sjoegren's syndrome. In control and probable Sjoegren's syndrome groups the uptake ratio of the submandibular gland to parotid gland on salivary SPECT (S/P ratio) was less than 1.0. However, in the definite Sjoergren's syndrome group, the ratio was more than 1.0. Moreover, the ratio in all patients with sialectasia, which is characteristic of Sjoegren's syndrome, was more than 1.0. Salivary factor analysis of normal parotid glands showed slowly increasing patterns of uptake and normal submandibular glands had rapidly increasing patterns of uptake. However, in the definite Sjoegren's syndrome group, the factor analysis patterns were altered, with slowly increasing patterns dominating both in the parotid and submandibular glands. These results suggest that the S/P ratio in salivary SPECT and salivary factor analysis provide additional radiologic criteria in diagnosing Sjoegren's syndrome. (orig.)

A ‘High Risk’ Lifestyle Pattern Is Associated with Metabolic Syndrome among Qatari Women of Reproductive Age: A Cross-Sectional National Study

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Mohammed Al Thani

2016-06-01

Full Text Available This study investigated the effect of lifestyle patterns, as a combination of diet, physical activity and smoking, on Metabolic Syndrome (MetS among Qatari women of childbearing age (n = 418, a population group particularly vulnerable to the health sequela of this syndrome. Using data from the National WHO STEPwise survey conducted in Qatar in 2012, Principal Component Factor Analysis was performed to derive lifestyle patterns with survey variables related to the frequency of consumption of 13 foods/food groups, physical activity levels, and smoking status. MetS was diagnosed using ATPIII criteria. Three lifestyle patterns were identified: ‘High Risk’ pattern, characterized by intakes of fast foods, sweets and sugar sweetened beverages, in addition to lower levels of physical activity and higher smoking prevalence; ‘Prudent’ pattern, driven mainly by higher intakes of fruits, vegetables, fish, and whole grains; and ‘Traditional’ pattern which included beans, meat, dairy products, and a low prevalence of smoking. Among these three lifestyle patterns, only the ‘High Risk’ was associated with MetS, whereby subjects belonging to the third tertile of this pattern’s score had 2.5 times the odds of MetS compared to those belonging to the first tertile. The findings of this study demonstrated the synergy among high risk behaviors among Qatari women in increasing the odds of MetS; the latter being a major risk factor for cardiovascular diseases.

Physical activity patterns in children with and without Down syndrome.

Science.gov (United States)

Whitt-Glover, Melicia C; O'Neill, Kristen L; Stettler, Nicolas

2006-01-01

To describe physical activity (PA) patterns in children with Down syndrome (DS) compared to their unaffected siblings. Children with DS (n = 28) and their siblings (n = 30), between 3-10-years (mean +/- SD 7.1 +/- 2.1 years) participated in a nutrition and growth study. PA was measured over 7 days using accelerometers. Children with DS were younger (6.6 vs. 7.1 years) and heavier (BMI 18.4 vs. 16.7 kg m(-2)) than their siblings (p children. Children with DS accumulated less VPA than their siblings (49.5 vs. 68.6 minutes per day; p = 0.04) and for shorter bouts (2.5 vs. 5.1 minutes per bout; p Children with DS participated in less total and sustained VPA and had higher BMI levels compared with their siblings. Because children with DS have a tendency toward childhood obesity, increasing participation in VPA may be appropriate for prevention of obesity and promotion of lifelong health.

Genetic Syndromes, Maternal Diseases and Antenatal Factors Associated with Autism Spectrum Disorders (ASD).

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Ornoy, Asher; Weinstein-Fudim, Liza; Ergaz, Zivanit

2016-01-01

Autism spectrum disorder (ASD) affecting about 1% of all children is associated, in addition to complex genetic factors, with a variety of prenatal, perinatal, and postnatal etiologies. In addition, ASD is often an important clinical presentation of some well-known genetic syndromes in human. We discuss these syndromes as well as the role of the more important prenatal factors affecting the fetus throughout pregnancy which may also be associated with ASD. Among the genetic disorders we find Fragile X, Rett syndrome, tuberous sclerosis, Timothy syndrome, Phelan-McDermid syndrome, Hamartoma tumor syndrome, Prader-Willi and Angelman syndromes, and a few others. Among the maternal diseases in pregnancy associated with ASD are diabetes mellitus (PGDM and/or GDM), some maternal autoimmune diseases like antiphospholipid syndrome (APLS) with anti-β2GP1 IgG antibodies and thyroid disease with anti-thyroid peroxidase (TPO) antibodies, preeclampsia and some other autoimmune diseases with IgG antibodies that might affect fetal brain development. Other related factors are maternal infections (rubella and CMV with fetal brain injuries, and possibly Influenza with fever), prolonged fever and maternal inflammation, especially with changes in a variety of inflammatory cytokines and antibodies that cross the placenta and affect the fetal brain. Among the drugs are valproic acid, thalidomide, misoprostol, and possibly SSRIs. β2-adrenergic receptor agonists and paracetamol have also lately been associated with increased rate of ASD but the data is too preliminary and inconclusive. Associations were also described with ethanol, cocaine, and possibly heavy metals, heavy smoking, and folic acid deficiency. Recent studies show that heavy exposure to pesticides and air pollution, especially particulate matter ASD. Finally, we have to remember that many of the associations mentioned in this review are only partially proven, and not all are "clean" of different confounding factors. The

Vacinas contra varicela e vacina quádrupla viral Varicella vaccines and measles, mumps, rubella, and varicella vaccine

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Lucia Ferro Bricks

2006-07-01

Full Text Available OBJETIVOS: Apresentar uma revisão atualizada sobre os estudos de eficácia, eventos adversos e esquema vacinal da vacina contra varicela e a nova apresentação combinada com a vacina contra sarampo, caxumba e rubéola. FONTES DOS DADOS: Revisão bibliográfica utilizando a base de dados MEDLINE e LILACS no período de 1999 a 2006. SÍNTESE DOS DADOS: A vacina contra varicela tem uma eficácia entre 70 a 90% contra a infecção e 95 a 98% de proteção contra as formas graves. É uma vacina bem tolerada e pouco reatogênica. Após o seu licenciamento, foram comprovados apenas três casos de transmissão do vírus vacinal de pessoas previamente saudáveis para contatos domiciliares, que desenvolveram doença leve. Apesar das evidências de que a proteção conferida pela vacina pode diminuir com o passar dos anos, ainda não é possível afirmar que seja necessário, no momento, a aplicação de uma segunda dose, tendo em vista a exposição ao vírus selvagem. Após a vacinação universal, as chances de estímulo natural deverão diminuir, e muito provavelmente será necessário a aplicação de doses de reforço. Recentemente foi licenciada a vacina quádrupla viral, um produto combinado com a vacina contra sarampo, caxumba, rubéola e varicela com elevadas taxas de soroconversão. CONCLUSÃO:A vacina contra varicela é recomendada pela Sociedade Brasileira de Pediatria (SBP para as crianças a partir de 1 ano de idade. Esperamos que, em breve, a vacina quádrupla viral esteja disponível no Brasil, pois o uso de vacinas combinadas possibilita uma maior cobertura vacinal.OBJECTIVES: To present an up-to-date review of studies investigating the efficacy, adverse events and vaccination regimens of the varicella vaccine and the new presentation combined with the vaccine for measles, mumps and rubella. SOURCES OF DATA: Bibliographic review of the MEDLINE and LILACS databases covering the period 1999 to 2006 SUMMARY OF THE FINDINGS: The varicella

Dietary indexes, food patterns and incidence of metabolic syndrome in a Mediterranean cohort: The SUN project.

Science.gov (United States)

Pimenta, Adriano M; Toledo, Estefanía; Rodriguez-Diez, Maria C; Gea, Alfredo; Lopez-Iracheta, Roberto; Shivappa, Nitin; Hébert, James R; Martinez-Gonzalez, Miguel A

2015-06-01

We prospectively assessed the association between adherence to several a priori defined healthy food patterns and risk of metabolic syndrome (MetS). We assessed 6851 participants of a Spanish dynamic prospective cohort of university graduates, initially free of any MetS-specific definition criteria, and followed-up for a median of 8.3 years. We calculated the adherence to thirteen different a priori defined food patterns or dietary indexes. MetS was classified according to the updated harmonizing criteria. We estimated multivariable-adjusted Incidence Rate Ratios (IRR) of metabolic syndrome and their 95% Confidence Intervals (95% CI), using Poisson regression models. The cumulative incidence of MetS was 5.0%. Moderate adherence to the Pro-Vegetarian Diet (PVEG) was significantly associated with a lower risk for developing MetS (IRR = 0.75, 95% CI = 0.59-0.97). Among women, an inverse association with the PVEG was significant not only for a moderate adherence (IRR = 0.54, 95% CI = 0.36-0.82), but also for higher adherence (IRR = 0.63, 95% CI = 0.43-0.93). A higher adherence to the Dietary Approaches to Stop Hypertension (DASH) diet showed an inverse association with the MetS among participants, but only if they had low alcohol intake (RR = 0.41, 95% CI = 0.20-0.85). Our findings support the adoption of a PVEG dietary pattern for the reduction of MetS risk. The same statement can be applied in relation to the DASH diet, insofar a limited consumption of alcoholic beverages is also maintained. Copyright © 2014 Elsevier Ltd and European Society for Clinical Nutrition and Metabolism. All rights reserved.

Application of high-field n.m.r. spectroscopy to the structural elucidation of natural products. The structure of rubellin, a noval bufadienolide glycoside from Urginea rubella

International Nuclear Information System (INIS)

Steyn, P.S.; Van Heerden, F.R.; Vleggaar, R.

1986-01-01

The structure and absolute configuration of rubellin, the major toxic principle of Urginea rubella, was determined by application of high-field 1 H n.m.r. spectroscopy. Rubellin proved to be a bufadienolide glycoside with the carbohydrate moiety doubly linked to the aglycone at the 2α- and 3β- positions

Dandy Walker malformation

African Journals Online (AJOL)

PROF. EZECHUKWU

2014-10-01

- tion of Dandy walker syndrome to enhance early diagnosis, prompt intervention and better outcome ... tion of the central nervous system. It results from a .... Other predisposing factors include first trimester exposure to rubella ...

Release patterns of pregnancy-associated plasma protein A in patients with acute coronary syndromes assessed by an optimized monoclonal antibody assay

DEFF Research Database (Denmark)

Schoos, Mikkel; Iversen, Kasper; Teisner, Ane

2008-01-01

Objective. Pregnancy-associated plasma protein A (PAPP-A) is expressed in eroded and ruptured atheromatous plaques, and circulating levels are elevated in acute coronary syndromes (ACS). Our objective was to investigate release patterns of PAPP-A in ACS and whether they differ among different typ...

Alport’s syndrome with focal segmental glomerulosclerosis lesion – Pattern to recognize

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Afnan A Alsahli

2018-01-01

Full Text Available The association between Alport’s syndrome (AS and focal segmental glomerulosclerosis (FSGS in the same patient is complex and rarely reported. We report a case of a 42-year-old male presenting with proteinuria, microscopic hematuria, elevated serum creatinine and hypertension with unremarkable physical examination apart from obesity. The renal biopsy showed well-established FSGS pattern of injury with mild interstitial fibrosis and tubular atrophy, while the electron microscopic examination demonstrated glomerular basement membranes (GBM changes compatible with AS. AS can be complicated by segmental glomerular scarring, which can mimic primary FSGS, while familial FSGS can result from mutations in collagen IV network of the GBM. This overlap can complicate histopathological interpretation of renal biopsy, which should be accompanied by mutational analysis for accurate diagnosis and proper therapeutic intervention.

Regional ventilation/perfusion mismatch pattern in patient with Swyer James (MacLeod′s syndrome

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Sait Sager

2014-01-01

Full Text Available Swyer James (McLeod′s syndrome (SJMS is an uncommon disease, which occurs as a result of childhood bronchiolitis obliterans. Patients may not be diagnosed until later in their life. A 46-year-old man underwent ventilation/perfusion scintigraphy for acute onset of dyspnea. The scan showed markedly diminished ventilation and perfusion unilaterally on the right middle and inferior lobes. However, mismatched ventilation-perfusion pattern was shown on the upper right lobe, which was consistent with pulmonary embolism. Unilaterally matched ventilation/perfusion defect can see in SJMS in lung scintigraphy; however, when pulmoner embolism may accompany, scintigraphy should be carefully examined.

Genetics and aging; the Werner syndrome as a segmental progeroid syndrome.

Science.gov (United States)

Martin, G M

1985-01-01

The maximum lifespan potential is a constitutional feature of speciation and must be subject to polygenic controls acting both in the domain of development and in the domain of the maintenance of macromolecular integrity. The enormous genetic heterogeneity that characterizes our own species, the complexities of numerous nature-nurture interactions, and the quantitative and qualitative variations of the senescent phenotype that are observed suggest that precise patterns of aging in each of us may be unique. Patterns of aging may also differ sharply among species (for example, semelparous vs. multiparous mammals). Some potential common denominators, however, allow one to identify progeroid syndromes in man that could lead to the elucidation of important pathways of gene action. (The suffix "-oid" means "like"; it does not mean identity.) Unimodal progeroid syndromes (eg., familial dementia of the Alzheimer type, an autosomal dominant) can help us understand the pathogenesis of a particular aspect of the senescent phenotype of man. Segmental progeroid syndromes (eg. the Werner syndrome, an autosomal recessive) may be relevant to multiple aspects of the senescent phenotype. Some results of research on the Werner syndrome may be interpreted as support for "peripheral" as opposed to "central" theories of aging; they are consistent with the view that gene action in the domain of development (adolescence, in this instance) can set the stage for patterns of aging in the adult; they point to the importance of mesenchymal cell populations in the pathogenesis of age-related disorders; finally, they underscore the role of chromosomal instability, especially in the pathogenesis of neoplasia.

Abnormal serum IgG subclass pattern in children with Down's syndrome.

Science.gov (United States)

Annerén, G; Magnusson, C G; Lilja, G; Nordvall, S L

1992-05-01

Susceptibility to infections is a well known feature of Down's syndrome. The possible relation between this predisposition and the serum concentrations of the IgG subclasses was studied in 38 children with Down's syndrome aged 1-12 years. An age matched group of 50 healthy children served as controls. The serum concentrations of IgG1 and IgG3 were significantly raised among children with Down's syndrome in all three age groups studied (that is 1-2.5, 4-8, and 9-12 years). The serum concentrations of IgG2 were normal in the first two groups but significantly reduced in the third age group. In contrast, the concentrations of IgG4 among children with Down's syndrome were significantly reduced in all three age groups. Moreover, among the children with Down's syndrome aged 4-12 years 68% (15/22) had IgG4 concentrations below 2 SDs of the geometrical mean of the controls. The results may partially explain the proneness of children with Down's syndrome to infections with encapsulated bacteria. Although the underlying cause of these abnormalities is unknown, IgG subclass determination seems relevant in the clinical evaluation of children with Down's syndrome.

The Relationship Between Premenstrual Syndrome and Food Patterns in University Student Girls

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Darabi

2014-12-01

Full Text Available Background Premenstrual syndrome (PMS is a group of disorders that many girls and women suffer from. It is well known that an appropriate diet as well as environmental factors plays a major role in quality of life. Objectives This study evaluates food patterns for university student girls who suffer from PMS and are healthy. Materials and Methods Eighty-six university student girls from Ahvaz Jundishapur University of Medical Sciences participated in the survey and PMS was diagnosed using the diagnostic criteria of the American College of Obstetricians and Gynecologists. They completed a daily symptom-rating questionnaire for PMS symptoms. The score of categorical symptoms (mood-emotional and gastrointestinal disorders, pain, fatigue-focus, and other disorders were determined separately. Student food pattern was determined according to the Iranian food pyramid. The correlation between symptom scores and food group servings was determined by the Pearson correlation coefficient. Results The score for each categorical symptom showed significant differences between healthy and students who suffered from PMS (P < 0.001. A significant negative relationship was observed between milk consumption and pain score (P = 0.038, r = -0.224, and between total dairy consumption and pain score (P = 0.019, r = -0.253. Total disorder scores showed a significant negative relationship with total dairy product (P = 0.024, r = -0.243. Conclusions The results of the survey indicate that PMS symptoms are related to consuming less milk or dairy products. Therefore, an appropriate intake of foods according to standard food patterns (like the Iranian food pyramid is recommended.

Micro-planning in a wide age range measles rubella (MR) campaign using mobile phone app, a case of Kenya, 2016

OpenAIRE

Ismail, Amina; Tabu, Collins; Onuekwusi, Iheoma; Otieno, Samuel Kevin; Ademba, Peter; Kamau, Peter; Koki, Beatrice; Ngatia, Anthony; Wainaina, Anthony; Davis, Robert

2017-01-01

Introduction A Measles rubella campaign that targeted 9 months to 14 year old children was conducted in all the 47 counties in Kenya between 16th and 24th of May 2016. Micro-planning using an android phone-based app was undertaken to map out the target population and logistics in all the counties 4 weeks to the campaign implementation instead of 6 months as per the WHO recommendation. The outcomes of the micro-planning exercise were a detailed micro-plan that served as a guide in ensuring tha...

Congenital nephrotic syndrome: A diagnostic and management ...

African Journals Online (AJOL)

viz. syphilis, hepatitis B and C and rubella were negative. Due to lack of resources ... (personal communication, Adhikari). It is, however, possible that .... Benfield MR, McDonald RA, Bartosh S, Ho PL, Harmon W. Changing trends in pediatric ...

Gender specific effect of major dietary patterns on the metabolic syndrome risk in Korean pre-pubertal children

OpenAIRE

Park, Soo Jin; Lee, Seung Min; Kim, Seon Mee; Lee, Myoungsook

2013-01-01

There is a lack of data on metabolic risk factors during pre-puberty, which is important for identifying the subgroups of youth, at whom early interventions should be targeted. In this study, we evaluated the prevalence of metabolic risk factors and its subsequent relations with dietary patterns in Korean pre-pubertal children through a cross-sectional sample (n = 1,008; boys = 513) of pre-pubertal children (aged 8-9 years) from a sub-study of the Korea Metabolic Syndrome Research Initiatives...

A Single Arm Pilot Study of Effects of Berberine on the Menstrual Pattern, Ovulation Rate, Hormonal and Metabolic Profiles in Anovulatory Chinese Women with Polycystic Ovary Syndrome.

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Lin Li

Full Text Available To evaluate the effects of berberine on the menstrual pattern, ovulation rate, hormonal and metabolic profiles in anovulatory Chinese women with polycystic ovary syndrome.Berberine 0.4 g three times per day was given for four months to 102 anovulatory Chinese women with polycystic ovary syndrome. The menstrual pattern, ovulation rate, hormonal and metabolic profiles were compared before and after the berberine treatment. Ovulation was confirmed by serum progesterone level ≥10 ng/ml.A total of 98 of 102 subjects (96.1% completed the four month treatment, including 69 (70.4%, 69/98 normal weight and 29 (29.6%, 29/98 overweight/obese. Fourteen women (14.3%, 14/98 had regained regular menses after berberine treatment and there was no significant difference between normal weight and overweight/obese groups. The ovulation rate was 25.0% over four months in the whole group, 22.5% in the normal weight group and 31.0% in the overweight/obese group. Sex hormone binding globulin, insulin resistance, total cholesterol, total triglyceride and low-density lipoprotein cholesterol decreased after berberine treatment in the normal weight group only.Our study found that administration of berberine alone may improve the menstrual pattern and ovulation rate in anovulatory Chinese women with polycystic ovary syndrome. Berberine can also decrease sex hormone binding globulin, insulin resistance, total cholesterol, triglycerides and low-density lipoprotein cholesterol in normal weight polycystic ovary syndrome women.Chictr.org ChiCTR-OO-13003943.

Research

African Journals Online (AJOL)

abp

2015-09-22

Sep 22, 2015 ... Congenital Rubella Syndrome (CRS), characterized by multiple defects to the ... Majority of caregivers (97.8%) reported to the health facility within two days ... Index case was a 9 year old girl from Simchembu 2 Primary School.

Disease pattern in Danish patients with Peutz-Jeghers syndrome

DEFF Research Database (Denmark)

Jelsig, A M; Qvist, N; Sunde, L

2016-01-01

PURPOSE: In this paper, we aimed to collect genetic and medical information on all Danish patients with Peutz-Jeghers syndrome (PJS), in order to contribute to the knowledge of phenotype and genotype. Peutz-Jeghers syndrome is a hereditary syndrome characterized by multiple hamartomatous polyps...... in the GI tract, mucocutaneous pigmentations, and an increased risk of cancer in the GI tract and at extraintestinal sites. Over 90 % of patients harbour a pathogenic mutation in STK11. METHODS: Based on the Danish Pathology Data Bank, the Danish National Patient Register, as well as information from...... of the small bowel as the most frequent presenting symptom. We noted 18 occurrences of cancer at various anatomical sites, including a case of thyroid cancer and penile cancer. Eight of the deceased patients had died of cancer. Eighteen different mutations in STK11 had been detected in 28 patients. CONCLUSION...

Prevalence of rubella antibodies in a non-immunized urban population, São Paulo, Brazil Prevalência de anticorpos anti-vírus da rubéola em população urbana não imunizada, São Paulo, Brasil

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Vanda A.U.F. Souza

1994-08-01

Full Text Available The prevalence of rubella antibodies was evaluated through a ramdom Seroepidemiological survey in 1400 blood samples of 2-14 year old children and in 329 samples of umbilical cord serum. Rubella IgG antibodies were detected by ELISA, and the sera were collected in 1987, five years before the mass vaccination campaign with measles-mumps-rubella vaccine carried out in the city of São Paulo in 1992. A significant increase in prevalence of rubella infection was observed after 6 years of age, and 77% of the individuals aged from 15 to 19 years had detectable rubella antibodies. However, the seroprevalence rose to 90.5% (171/189 in cord serum samples from children whose mothers were 20 to 29 years old, and reached 95.6% in newborns of mothers who were 30 to 34 years old, indicating that a large number of women are infected during childbearing years. This study confirms that rubella infection represents an important Public Health problem in São Paulo city. The data on the seroprevalence of rubella antibodies before the mass vaccination campaign reflects the baseline immunological status of this population before any intervention and should be used to design an adequate vaccination strategy and to assess the Seroepidemiological impact of this intervention.A prevalência de anticorpos contra o vírus da rubéola foi avaliada através de inquérito soroepidemiológico, em 1400 amostras de sangue de crianças com idade entre 2 e 14 anos e 329 amostras de soro de cordão umbilical. Anticorpos para o vírus da rubéola foram detectados pela técnica de ELISA e as amostras foram colhidas em 1987, 5 anos antes da campanha de vacinação em massa com a vacina tríplice viral realizada na cidade de São Paulo em 1992. Um aumento significativo na prevalência foi observado após 6 anos de idade, e 77% dos indivíduos entre 15 e 19 anos apresentaram anticorpos anti-rubéola. Entretanto, a soroprevalência elevou-se para 90,5% (171/189 em soros de cordão de

Surgical treatment of a Pattern I Obstructive Sleep Apnea Syndrome individual - clinical case report

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Christiane Cavalcante Feitoza

Full Text Available Obstructive Sleep Apnea Syndrome (OSA is a multifactorial disease that highly alters a persons quality of life. It is characterized by the repeated interruption of breathing during sleep, due to an obstruction or the collapse of the upper airways. Since it is a multifactorial etiological disorder, it requires a thorough diagnosis and treatment with an interdisciplinary team, which comprises several professionals such as a surgical dentist, phonoaudiologist, otorhinolaryngologist, sleep doctor, neurologist and physiotherapist. The diagnosis and the degree of severity of the syndrome is determined through a polysomnography examination. After that, the best form of treatment is devised depending on the gravity of the case. In cases of moderate to severe apnea, invasive treatment through surgical procedures such as maxillomandibular advancement remains the preferred option as it increases the posterior air space, reducing and/or eliminating the obstruction. Thus, improving the patients respiratory function and, consequently, his quality of life as it is shown in the clinical case at hand. In which the male patient, facial pattern type I, 41 years of age, diagnosed with moderate OSA (Apnea-Hypopnea Index - AHI of 23.19, decided to have a surgical treatment instead of a conservative one, resulting in the cure of apnea (AHI of 0.3.

Association of anticonvulsant hypersensitivity syndrome with Herpesvirus 6, 7.

Science.gov (United States)

Oskay, Tuğba; Karademir, Asli; Ertürk, Ozcan I

2006-07-01

Anticonvulsant hypersensitivity syndrome (AHS) is one of the most severe forms of drug eruption with potentially lethal, and multiorgan involvement. Recently, it has been suggested that Human Herpesvirus (HHV) infection has been involved in this syndrome, although the pathogenesis of this syndrome remains still unclear. The objective of this study was to determine the clinical characteristics of AHS and the possible role of viral infection as a co-factor. We prospectively analyzed clinical, laboratory and virological findings for 23 cases of AHS. A viral study including viral serology and a polymerase chain reaction (PCR) was performed. The most common anticonvulsant was carbamazepine (12) followed by phenytoin (6), phenobarbital (4) and gabapentin (1). All patients met fulfill the clinical criteria of AHS. Even though internal organ involvement such as liver (52%), kidney (34%), and lung (13%) has been observed, involvement of heart, lung, thyroid, muscle, pancreas, spleen, and brain was less frequent. We also noted two patients who died due to multiorgan failure. No association with viral infection including HSV, VZV, HHV-8, CMV, EBV, measles, rubella and parvovirus B19 was detected in the current series. Increased serum anti-HHV-6 IgG and HHV-7 titers and presence of HHV-6 and -7 DNA in serum, revealed by PCR analysis, suggested reactivation of HHV-6. In contrast to the control groups, DNA for HHV-6 was detected in serum in 5 out of the 23 patients while HHV-7 was seen in two patients. We found an evidence to link reactivation of HHV-6 or HHV-7 in the development of only carbamazepine-induced AHS. We propose that some cases of AHS are accompanied by reactivation of not only HHV-6 but also HHV-7. HHV infection may contribute to the severity, prolongation, or relapse of AHS and may possibly have fatal consequences in some susceptible individuals receiving the anticonvulsants.

Robinow Syndrome: A Rare Case Report and Review of Literature

OpenAIRE

Soman, Cristalle; Lingappa, Ashok

2015-01-01

ABSTRACT Robinow syndrome is an extremely rare genetic disorder. Short-limbed dwarfism, abnormalities in the head, face, and external genitalia, as well as vertebral defects comprise its distinct features. This disorder exists in dominant and recessive patterns. Patients with the dominant pattern exhibit moderate symptoms. More physical characteristics and skeletal abnormalities characterize the recessive group. The syndrome is also known as Robinow-Silverman-Smith syndrome, Robinow dwarfism,...

Recent Trends in WRN Gene Mutation Patterns in Individuals with Werner Syndrome.

Science.gov (United States)

Yamaga, Masaya; Takemoto, Minoru; Takada-Watanabe, Aki; Koizumi, Naoko; Kitamoto, Takumi; Sakamoto, Kenichi; Ishikawa, Takahiro; Koshizaka, Masaya; Maezawa, Yoshiro; Yokote, Koutaro

2017-08-01

To determine recent trends in mutation patterns in the WRN gene, which cause Werner syndrome (WS), a rare, inheritable progeroid syndrome in Japan. Retrospective cohort. Longitudinal survey of WS and literature search for case reports. Individuals whose genetic testing their facilities had requested between 2009 and October 2016 (N = 67). A nationwide epidemiological study was conducted from 2009 to 2011 to improve understanding of the pathology of WS and develop therapeutic guidelines. Since 2009, Chiba University Hospital consecutively evaluated the WRN gene in 67 individuals throughout Japan who had requested genetic testing. A literature search was also conducted for case reports on Japanese WS reported since 1997. A definitive diagnosis of WS was confirmed genetically in 50 of 67 participants. Through the literature search, 16 individuals diagnosed genetically with WS were identified. Of these 66 individuals with WS, 42 were homozygous for a WRN mutation, and 21 were compound heterozygotes. One novel mutant allele was identified in an individual with the compound heterozygous genotype. The proportion of compound heterozygotes (31.8%) was significantly greater than reported previously (14.2%), indicating that the incidence of consanguineous marriage of parents has decreased. The increased frequency of individuals with WS with the compound heterozygous genotype is a recent trend in Japan. A long-term follow-up study on WRN homozygotes and compound heterozygotes will allow the relationship between WRN genotype and clinical severity of WS to be evaluated in the future. © 2017, Copyright the Authors Journal compilation © 2017, The American Geriatrics Society.

[Williams-Beuren syndrome (Williams syndrome). Case report].

Science.gov (United States)

Miklós, Györgyi; Fekete, György; Haltrich, Irén; Tóth, Miklós; Reismann, Péter

2017-11-01

Williams syndrome is a rare genetic disorder, that occurs equally in all ethnic groups and both sexes. The diagnosis might be missed during childhood in mild cases. However, establishing the diagnosis is important, not only to find the cause of intellectual disability but to look for cardiovascular, endocrine, psychiatry, urology and other conditions, which can occur at any age in the patients' lifetime. This case report presents the story of 47-year-old woman, who was admitted with haematemesis. During her stay on the ward, in the light of the distinctive facial features, mental retardation, and social behaviour patterns, the possibility of Williams syndrome emerged. Later, the diagnosis was confirmed by genetic analysis. This female is the oldest living patient with Williams syndrome in Hungary. Orv Hetil. 2017; 158(47): 1883-1888.

Constitutional growth delay pattern of growth in velo-cardio-facial syndrome: longitudinal follow up and final height of two cases.

Science.gov (United States)

Turan, Serap; Ozdemir, Nihal; Güran, Tülay; Akalın, Figen; Akçay, Teoman; Ayabakan, Canan; Yılmaz, Yüksel; Bereket, Abdullah

2008-01-01

We report two patients with velo-cardio-facial syndrome (VCFS) who were admitted to our pediatric endocrinology clinic because of short stature and followed longitudinally until attainment of final height. Both patients followed a growth pattern consistent with constitutional delay of puberty with normal and near normal final height. Case 2 also had partial growth hormone (GH) deficiency and severe short stature (height SDS -3.4 SDS), but showed spontaneous catch-up and ended up with a final height of -2 SDS. These cases suggest that short stature in children with VCFS is due to a pattern of growth similar to that observed in constitutional delay of growth and puberty.

The metabolic syndrome among Danish seafarers

DEFF Research Database (Denmark)

Jepsen, Jørgen Riis; Rasmussen, Hanna Barbara

2016-01-01

Background: The metabolic syndrome (MS) represents a cluster of risk factors related to insulin resistance. Metabolic syndrome is a strong risk factor for chronic metabolic and cardiovascular diseases and is related to nutritional factors, sleep patterns, work-related stress, fatigue, and physical...

Genetics Home Reference: Prader-Willi syndrome

Science.gov (United States)

... caused by a phenomenon called genomic imprinting. Most cases of Prader-Willi syndrome (about 70 percent) occur when a segment of ... More about Mutations and Health Inheritance Pattern Most cases of Prader-Willi syndrome are not inherited, particularly those caused by a ...

A minimally processed dietary pattern is associated with lower odds of metabolic syndrome among Lebanese adults.

Science.gov (United States)

Nasreddine, Lara; Tamim, Hani; Itani, Leila; Nasrallah, Mona P; Isma'eel, Hussain; Nakhoul, Nancy F; Abou-Rizk, Joana; Naja, Farah

2018-01-01

To (i) estimate the consumption of minimally processed, processed and ultra-processed foods in a sample of Lebanese adults; (ii) explore patterns of intakes of these food groups; and (iii) investigate the association of the derived patterns with cardiometabolic risk. Cross-sectional survey. Data collection included dietary assessment using an FFQ and biochemical, anthropometric and blood pressure measurements. Food items were categorized into twenty-five groups based on the NOVA food classification. The contribution of each food group to total energy intake (TEI) was estimated. Patterns of intakes of these food groups were examined using exploratory factor analysis. Multivariate logistic regression analysis was used to evaluate the associations of derived patterns with cardiometabolic risk factors. Greater Beirut area, Lebanon. Adults ≥18 years (n 302) with no prior history of chronic diseases. Of TEI, 36·53 and 27·10 % were contributed by ultra-processed and minimally processed foods, respectively. Two dietary patterns were identified: the 'ultra-processed' and the 'minimally processed/processed'. The 'ultra-processed' consisted mainly of fast foods, snacks, meat, nuts, sweets and liquor, while the 'minimally processed/processed' consisted mostly of fruits, vegetables, legumes, breads, cheeses, sugar and fats. Participants in the highest quartile of the 'minimally processed/processed' pattern had significantly lower odds for metabolic syndrome (OR=0·18, 95 % CI 0·04, 0·77), hyperglycaemia (OR=0·25, 95 % CI 0·07, 0·98) and low HDL cholesterol (OR=0·17, 95 % CI 0·05, 0·60). The study findings may be used for the development of evidence-based interventions aimed at encouraging the consumption of minimally processed foods.

Frank-ter Haar syndrome--additional findings?

Science.gov (United States)

Köse, Taha Emre; İşler, Cemil; Şenel, Ş Neslihan; Şitilci, Tolga; Özcan, İlknur; Aksakallı, Nihan

2016-01-01

Frank-ter Haar syndrome is a genetic disease that is transmitted by autosomal recessive pattern with characteristic features such as megalocornea or glaucoma, a prominent coccyx, heart defects, developmental delays, brachycephaly, a wide anterior fontanel, finger flexion deformities, full cheeks and micrognathia. Dentomaxillofacial features of this syndrome are not well documented in the literature. We present of a 21-year-old male with Frank-ter Haar syndrome and some features that may be linked with this syndrome not reported before in the literature.

A rubella serosurvey in postpartum women in the three regions of Peru Estudio serológico de rubéola en mujeres recién paridas en las tres regiones de Perú

Directory of Open Access Journals (Sweden)

Luis Suárez-Ognio

2007-08-01

Full Text Available OBJECTIVE: To determine the proportion of postpartum women aged 15-49 in Peru who are susceptible to rubella, in order to help address strategies to eliminate rubella and to prevent congenital rubella syndrome (CRS in the country. METHODS: A cross-sectional survey was conducted during March and April 2003 in six main regional hospitals, in the three geographic regions (coast, mountain, and jungle of Peru. For the postpartum women who provided written informed consent, a questionnaire was administered and a blood specimen was collected. Sera were tested for rubella immunoglobulin G (IgG antibody, using a commercial enzyme-linked immunosorbent serologic assay (ELISA kit. Univariate, bivariate, and multivariate analyses were carried out to assess risk factors for susceptibility. RESULTS: In total, 1 236 postpartum women were enrolled. The overall proportion of IgG-antibody negative women was 12.8% (95% confidence interval (CI: 10.9%-14.6%. Bivariate analysis found the following variables associated with susceptibility: living in the jungle region (odds ratio (OR = 1.65; 95% CI: 1.13-2.42; age OBJETIVO: Determinar la proporción de mujeres recién paridas de 15-49 años de edad susceptibles a la rubéola en Perú, a fin de contribuir a establecer estrategias para eliminar la rubéola y evitar el síndrome de rubéola congénita (SRC en el país. MÉTODOS: Se realizó un estudio transversal en marzo y abril de 2003 en seis hospitales regionales principales de tres regiones geográficas (costa, sierra y selva de Perú. A las mujeres recién paridas que dieron su consentimiento informado por escrito se les aplicó un cuestionario y se les tomó una muestra de sangre. La detección serológica de anticuerpos de la clase IgG contra rubéola se realizó mediante un ensayo inmunoenzimático comercial tipo ELISA. Se realizaron análisis con una, dos y múltiples variables para evaluar los factores de riesgo de ser susceptible a la enfermedad. RESULTADOS: En

New clinical and histological patterns of acute disseminated histoplasmosis in human immunodeficiency virus-positive patients with acquired immunodeficiency syndrome.

Science.gov (United States)

Ollague Sierra, Jose E; Ollague Torres, Jose M

2013-04-01

Histoplasmosis has attained increasing relevance in the past 3 decades because of the appearance of the human immunodeficiency virus (HIV). In most immunocompetent persons, the infection is asymptomatic or can produce a respiratory condition with symptoms and radiological images similar to those observed in pulmonary tuberculosis; in non-HIV+ immunocompromised patients, it can cause respiratory symptoms or evolve into a disseminated infection. The same can occur in acquired immunodeficiency syndrome (AIDS) patients. We have observed a series of HIV+ patients with AIDS who presented with cutaneous histoplasmosis and in whom the clinical and histopathological features were highly unusual, including variable mucocutaneous lesions that were difficult to diagnose clinically. These patients displayed unusual, previously undescribed, histological patterns, including lichenoid pattern, nodular pseudomyxoid pattern, pyogenic granuloma-like pattern, perifollicular pattern, and superficial (S), mid (M), and deep perivascular dermatitis; and more commonly encountered patterns, such as histiocytic lobular panniculitis and focal nodular dermatitis. The novel histopathological patterns of cutaneous involvement by histoplasmosis seen in these patients resembled other common inflammatory and infectious conditions and required a high level of suspicion and the application of special stains for organisms for confirmation. These new, clinical, and histological findings do not seem to be commonly encountered in HIV- patients infected with the fungus but seem to be displayed most prominently in HIV+ patients with AIDS.

Seroepidemiological profile of pregnant women after inadvertent rubella vaccination in the state of Rio de Janeiro, Brazil, 2001-2002 Perfil seroepidemiológico de embarazadas después de recibir inadvertidamente la vacuna antirrubeólica, estado de Rio de Janeiro, Brasil, 2001-2002

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Gloria Regina da Silva e Sá

2006-06-01

Full Text Available OBJECTIVES: To analyze postvaccination serological status in pregnant women inadvertently vaccinated against rubella in the state of Rio de Janeiro, Brazil. METHODS: This was a cross-sectional study of pregnant women 15 to 29 years old, vaccinated against rubella and measles from November 2001 to March 2002, who were unaware of their pregnancy at the time of vaccination or who became pregnant within 30 days thereafter. They were tested for rubella-specific immunoglobulin M (IgM and G (IgG and classified as immune (IgM-negative, IgG-positive, tested within 30 days after vaccination, susceptible (IgM-positive after vaccination or indeterminate (IgM-negative, IgG-positive, vaccination- serological testing interval greater than 30 days. RESULTS: Of 2 292 women, 288 (12.6% were susceptible, 316 (13.8% immune, 1 576 (68.8% indeterminate, 8 (0.3% ineligible, and 104 (4.5% lost to follow-up. IgM seropositivity by vaccination-serological testing interval was 16.1% (d" 30 days, 15.4% (30-60 days, and 14.2% (61-90 days. Considering the campaign's target age, the 20-to-24-year age group had the largest proportion of individuals susceptible to rubella (14.8% and represented 42.4% (122/288 of all susceptible women. In 75% of susceptible pregnant women, gestational age was 5 weeks or less at the time of vaccination. CONCLUSIONS: Mass immunization of childbearing-age women was justified on the basis of epidemiological and serological data. Follow-up of vaccinated pregnant women revealed no cases of congenital rubella syndrome due to rubella vaccination. However, the observed rate of congenital infection supports the recommendation to avoid vaccinating pregnant women, and to avoid conception for up to 1 month following rubella vaccination.OBJETIVOS: Analizar el estado serológico de mujeres embarazadas tras haber recibido inadvertidamente la vacuna antirrubeólica, en el estado de Rio de Janeiro, Brasil. MÉTODOS: Se realizó un estudio transversal de mujeres

Adult Attachment Interview Discourse Patterns Predict Metabolic Syndrome in Midlife

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Davis, Cynthia R.; Usher, Nicole; Dearing, Eric; Barkai, Ayelet R.; Crowell-Doom, Cindy; Mantzoros, Christos S.; Crowell, Judith A.

2017-01-01

Objective Adult attachment discourse patterns and current family relationship quality were examined as predictors of health behaviors and number of Metabolic Syndrome (MetS) criteria met. Methods A sample of 215 White/European American and Black/African American adults, aged 35 to 55, were examined cross-sectionally. Discourse was assessed with the Adult Attachment Interview (AAI), specifically: 1) coherence, a marker of attachment security, 2) unresolved trauma/loss, a marker of disorganized and distorted cognition related to trauma, and 3) idealization, the tendency to minimize the impact of stressful experiences. Health behaviors of diet, exercise, smoking and alcohol use were also assessed, as were adverse childhood experiences, current depressive symptoms and relationship functioning. MetS includes hypertension, hyperglycemia, high triglycerides, low HDL cholesterol, and obesity. Results Using path analysis and accounting for childhood adversity and depressive symptoms, AAI coherence and unresolved trauma or loss were directly linked to number of MetS criteria met (β = −.22 and .21 respectively). Idealization was indirectly linked to MetS through poor diet (β = −.26 and −.36 respectively), predicting 21% of the variance in number of MetS criteria met. Conclusions Attachment representations related to stress appraisal and care-seeking behaviors appear to serve as cognitive mechanisms increasing risk of MetS. PMID:25264975

Constitutional Growth Delay Pattern of Growth in Velo−Cardio−Facial Syndrome: Longitudinal follow up and final height of two cases

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Özdemir, Nihal; Güran, Tülay; Akalın, Figen; Akçay, Teoman; Ayabakan, Canan; Yılmaz, Yüksel; Bereket, Abdullah

2008-01-01

We report two patients with velo−cardio−facial syndrome (VCFS) who were admitted to our pediatric endocrinology clinic because of short stature and followed longitudinally until attainment of final height. Both patients followed a growth pattern consistent with constitutional delay of puberty with normal and near normal final height. Case 2 also had partial growth hormone (GH) deficiency and severe short stature (height SDS −3.4 SDS), but showed spontaneous catch−up and ended up with a final height of −2 SDS. These cases suggest that short stature in children with VCFS is due to a pattern of growth similar to that observed in constitutional delay of growth and puberty. Conflict of interest:None declared. PMID:21318064

Evaluation of potential protective factors against metabolic syndrome in bottlenose dolphins:feeding and activity patterns of dolphins in Sarasota Bay, Florida

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Wells, Randall S.; McHugh, Katherine A.; Douglas, David C.; Shippee, Steve; McCabe, Elizabeth Berens; Barros, Nélio B.; Phillips, Goldie T.

2014-01-01

Free-ranging bottlenose dolphins (Tursiops truncatus) living in Sarasota Bay, Florida appear to have a lower risk of developing insulin resistance and metabolic syndrome compared to a group of dolphins managed under human care. Similar to humans, differences in diet and activity cycles between these groups may explain why Sarasota dolphins have lower insulin, glucose, and lipids. To identify potential protective factors against metabolic syndrome, existing and new data were incorporated to describe feeding and activity patterns of the Sarasota Bay wild dolphin community. Sarasota dolphins eat a wide variety of live fish and spend 10–20% of daylight hours foraging and feeding. Feeding occurs throughout the day, with the dolphins eating small proportions of their total daily intake in brief bouts. The natural pattern of wild dolphins is to feed as necessary and possible at any time of the day or night. Wild dolphins rarely eat dead fish or consume large amounts of prey in concentrated time periods. Wild dolphins are active throughout the day and night; they may engage in bouts of each key activity category at any time during daytime. Dive patterns of radio-tagged dolphins varied only slightly with time of day. Travel rates may be slightly lower at night, suggesting a diurnal rhythm, albeit not one involving complete, extended rest. In comparison, the managed dolphins are older; often fed a smaller variety of frozen-thawed fish types; fed fish species not in their natural diet; feedings and engaged activities are often during the day; and they are fed larger but fewer meals. In summary, potential protective factors against metabolic syndrome in dolphins may include young age, activity, and small meals fed throughout the day and night, and specific fish nutrients. These protective factors against insulin resistance and type 2 diabetes are similar to those reported in humans. Further studies may benefit humans and dolphins.

Evaluation of potential protective factors against metabolic syndrome in bottlenose dolphins: feeding and activity patterns of dolphins in Sarasota Bay, Florida

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Randall eWells

2013-10-01

Full Text Available Free-ranging bottlenose dolphins (Tursiops truncatus living in Sarasota Bay, Florida appear to have a lower risk of developing insulin resistance and metabolic syndrome compared to a group of dolphins managed under human care. Similar to humans, differences in diet and activity cycles between these groups may explain why Sarasota dolphins have lower insulin, glucose, and lipids. To identify potential protective factors against metabolic syndrome, existing and new data were incorporated to describe feeding and activity patterns of the Sarasota Bay wild dolphin community. Sarasota dolphins eat a wide variety of live fish and spend 10-20% of daylight hours foraging and feeding. Feeding occurs throughout the day, with the dolphins eating small proportions of their total daily intake in brief bouts. The natural pattern of wild dolphins is to feed as necessary and possible at any time of the day or night. Wild dolphins rarely eat dead fish or consume large amounts of prey in concentrated time periods. Wild dolphins are active throughout the day and night; they may engage in bouts of each key activity category at any time during daytime. Dive patterns of radio-tagged dolphins varied only slightly with time of day. Travel rates may be slightly lower at night, suggesting a diurnal rhythm, albeit not one involving complete, extended rest. In comparison, the managed dolphins are older; often fed a smaller variety of frozen-thawed fish types; fed fish species not in their natural diet; feedings and engaged activities are often during the day; and they are fed larger but fewer meals. In summary, potential protective factors against metabolic syndrome in dolphins may include young age, activity and small meals fed throughout the day and night, and specific fish nutrients. These protective factors against insulin resistance and type 2 diabetes are similar to those reported in humans. Further studies may benefit humans and dolphins.

Bardet-Biedl Syndrome

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... Linked Retinoschisis (XLRS) X-Linked Retinitis Pigmentosa (XLRP) Usher Syndrome Other Retinal Diseases Glossary News & Research News & Research ... the autosomal recessive pattern of inheritance. In this type of inheritance both parents, called carriers, have one ...

Renal involvement in primary antiphospholipid syndrome.

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Marcantoni, Carmelita; Emmanuele, Carmela; Scolari, Francesco

2016-08-01

Antiphospholipid syndrome is an autoimmune disorder characterized by recurrent venous or arterial thrombosis and/or pregnancy-related problems associated with persistently elevated levels of antiphospholipid antibodies. The kidney is a major target organ in both primary and secondary antiphospholipid syndrome. This review describes several aspects of the renal involvement in the primary form of the syndrome, in particular the histological pattern of the so-called antiphospholipid syndrome nephropathy (APSN). APSN is a vascular nephropathy characterized by small vessel vaso-occlusive lesions associated with fibrous intimal hyperplasia of interlobular arteries, recanalizing thrombi in arteries and arterioles, and focal atrophy, a constellation of morphological lesions suggestive of primary antiphospholipid syndrome.

Clinical significance of determination of changes of serum TNF-α levels, peripheral B lymphocyte count and T lymphocyte subsets distribution pattern in patients with pregnancy induced hypertension syndrome

International Nuclear Information System (INIS)

Zhao Wenjuan

2006-01-01

Objective: To explore the changes of serum TNF-α levels, peripheral B cell count and T subsets distribution pattern in patients with pregnancy induced hypertension syndrome. Methods: Serum TNF-α levels (with RIA), peripheral B cell count as well as T subsets (with monoclonal technique) were examined in 34 patients with pregnancy induced hypertension syndrome and 35 controls. Results: The serum TNF-α levels and B lymphocytes count were significantly higher than those in controls (P 3 , CD 4 , CD4/CD8 ratio were significantly lower than those in controls (P<0.01). Conclusion: Pregnancy induced hY- pertension syndrome is a kind of autoimmune diseases with abnormal immunoregulation. (authors)

Seizures and EEG features in 74 patients with genetic-dysmorphic syndromes.

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Alfei, Enrico; Raviglione, Federico; Franceschetti, Silvana; D'Arrigo, Stefano; Milani, Donatella; Selicorni, Angelo; Riva, Daria; Zuffardi, Orsetta; Pantaleoni, Chiara; Binelli, Simona

2014-12-01

Epilepsy is one of the most common findings in chromosome aberrations. Types of seizures and severity may significantly vary both between different conditions and within the same aberration. Hitherto specific seizures and EEG patterns are identified for only few syndromes. We studied 74 patients with defined genetic-dysmorphic syndromes with and without epilepsy in order to assess clinical and electroencephalographic features, to compare our observation with already described electro-clinical phenotypes, and to identify putative electroencephalographic and/or seizure characteristics useful to address the diagnosis. In our population, 10 patients had chromosomal disorders, 19 microdeletion or microduplication syndromes, and 32 monogenic syndromes. In the remaining 13, syndrome diagnosis was assessed on clinical grounds. Our study confirmed the high incidence of epilepsy in genetic-dysmorphic syndromes. Moreover, febrile seizures and neonatal seizures had a higher incidence compared to general population. In addition, more than one third of epileptic patients had drug-resistant epilepsy. EEG study revealed poor background organization in 42 patients, an excess of diffuse rhythmic activities in beta, alpha or theta frequency bands in 34, and epileptiform patterns in 36. EEG was completely normal only in 20 patients. No specific electro-clinical pattern was identified, except for inv-dup15, Angelman, and Rett syndromes. Nevertheless some specific conditions are described in detail, because of notable differences from what previously reported. Regarding the diagnostic role of EEG, we found that--even without any epileptiform pattern--the generation of excessive rhythmic activities in different frequency bandwidths might support the diagnosis of a genetic syndrome. © 2014 Wiley Periodicals, Inc.

Prevalence and Aetiology of Congenitally Deafblind People in Denmark

DEFF Research Database (Denmark)

Dammeyer, Jesper Herup

2010-01-01

A study of prevalence and aetiology was performed on 63 children and 127 adults in Denmark with congenital deafblindness. Using a Scandinavian definition of deafblindness, the prevalence of congenital deafblindness was found to be 1:29,000. Thirty-five different aetiological causes of deafblindness...... were found. Causes of congenital deafblindness were different among adults compared to causes among children. Rubella syndrome (28%, n = 36) and Down syndrome (8%, n = 10) were the largest groups among people above 18 years of age. Among children CHARGE syndrome (16%, n = 13) was the largest group...

Memory and Neuropsychology in Down Syndrome

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Jarrold, Christopher; Nadel, Lynn; Vicari, Stefano

2009-01-01

This paper outlines the strengths and weaknesses in both short-term and long-term memory in Down syndrome, and the implications of these patterns for both other aspects of cognitive development and underlying neural pathology. There is clear evidence that Down syndrome is associated with particularly poor verbal short-term memory performance, and…

INTRALESIONAL MEASLES, MUMPS AND RUBELLA (MMR VACCINE-AN EFFECTIVE THERAPEUTIC TOOL IN THE TREATMENT OF WART

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Raju

2015-11-01

Full Text Available BACKGROUND: Warts are common cutaneous viral infection. Various therapeutic modalities have been using in treatment of wart, but none of them are standardised. Immunotherapy is new current approach in the treatment of wart. AIMS: To know the efficacy and safety profile of Measles Mumps Rubella (MMR Vaccine in the treatment of wart. METHODS: MMR vaccine was injected into a largest single wart intralesionally and subsequent injections given every 2 weeks apart for about 3 to 5 times. Every month followup of patients was done to know the clearance of wart. RESULTS: Complete remission of warts seen in 70.4% of patients, partial remission seen in 22.2% and no response was seen in 7.4% of patients. No serious adverse side effects were seen in the current study. CONCLUSION: MMR vaccine can be considered as a safe, effective, inexpensive intralesional immunotherapeutic modality in the treatment of wart.

Language and Literacy Development of Children with Williams Syndrome

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Mervis, Carolyn B.

2009-01-01

Williams syndrome is a rare neurodevelopmental disorder caused by deletion of approximately 25 genes on chromosome 7q11.23. Children with the syndrome evidence large individual differences in both broad language and reading abilities. Nevertheless, as a group, children with this syndrome show a consistent pattern characterized by relative…

Expression pattern of cdkl5 during zebrafish early development: implications for use as model for atypical Rett syndrome.

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Vitorino, Marta; Cunha, Nídia; Conceição, Natércia; Cancela, M Leonor

2018-05-11

Atypical Rett syndrome is a child neurodevelopmental disorder induced by mutations in CDKL5 gene and characterized by a progressive regression in development with loss of purposeful use of the hands, slowed brain and head growth, problems with walking, seizures, and intellectual disability. At the moment, there is no cure for this pathology and little information is available concerning animal models capable of mimicking its phenotypes, thus the development of additional animal models should be of interest to gain more knowledge about the disease. Zebrafish has been used successfully as model organism for many human genetic diseases; however, no information is available concerning the spatial and temporal expression of cdkl5 orthologous in this organism. In the present study, we identified the developmental expression patterns of cdkl5 in zebrafish by quantitative PCR and whole-mount in situ hybridization. cdkl5 is expressed maternally at low levels during the first 24 h of development. After that the expression of the gene increases significantly and it starts to be expressed mainly in the nervous system and in several brain structures, such as telencephalon, mesencephalon and diencephalon. The expression patterns of cdkl5 in zebrafish is in accordance with the tissues known to be affected in humans and associated to symptoms and deficits observed in Rett syndrome patients thus providing the first evidence that zebrafish could be an alternative model to study the molecular pathways of this disease as well as to test possible therapeutic approaches capable of rescuing the phenotype.

The definition of the Brugada syndrome.

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Sieira, Juan; Brugada, Pedro

2017-10-21

Brugada syndrome (BS) is an inherited disease characterized by a coved-type ST-segment elevation in the right precordial leads and increased risk of sudden cardiac death (SCD), in the absence of structural abnormalities. The cornerstone of BS diagnosis and definition, is its characteristic ECG pattern that can be present spontaneously or unmasked by drugs. Brugada syndrome was first described 25 years ago; paradoxically, in an era of great technological development, a new syndrome was described with a technology developed almost a century before. Great scientific knowledge has been gathered since the description of the syndrome. The better understanding of its pathophysiology and genetic basis has led to several modifications in its definition. Despite these facts, the essential, the description of the specific ECG pattern has remained almost unchanged since the initial report. In this article, we present the definition of the BS, the rationale behind it and our thoughts about its future. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2017. For permissions, please email: journals.permissions@oup.com.

Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome.

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Bonioli, E; Palmieri, A; Bertola, A; Bellini, C

1995-01-01

Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome: Coffin-Siris syndrome is a rare mental retardation/multiple congenital anomalies syndrome; so far its pattern of inheritance is under debate. We report a child affected by this syndrome, the pedigree of which is consistent with autosomal recessive inheritance.

Reprodutibilidade na classificação do teste de cristalização do filme lacrimal em pacientes com síndrome de Sjögren Reproducibility of the classification of ocular ferning patterns in Sjogren's syndrome patients

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Sergio Felberg

2008-04-01

Full Text Available OBJETIVO: Verificar a reprodutibilidade da classificação dos padrões do teste de cristalização do filme lacrimal utilizando cinco examinadores diferentes e comparar os padrões de cristalização de pacientes portadores da síndrome de Sjögren com os de indivíduos não portadores de doenças da superfície ocular. MÉTODOS: Análise da cristalização da lágrima de 29 pacientes com Sjögren e 45 pacientes sem doenças da superfície ocular, através de microscópio com luz polarizada, utilizando a classificação de Rolando. Para fins estatísticos foi estudada a curva ROC (Receiver Operating Characteristic para determinar a melhor nota de corte do exame que separa indivíduos normais dos portadores da síndrome, índice de concordância Kappa (pPURPOSE: To verify the reproducibility of Rolando's classification of the tear ferning test using five different examiners and to compare the patterns of crystallization found in Sjögren's syndrome patients and normal subjects. METHODS: Tear ferning analysis of 29 patients with Sjögren's syndrome and of 45 patients without ocular disease were done using polarized light microscopy and the Rolando classification for tear ferning. Five examiners classified the ferning patterns of all the patients. ROC curve (Receiver Operating Characteristic was used to find out the best score for the correct syndrome diagnosis. Kappa index (p<0.0001 was used to compare the results of the examiners among them and check the test's reproducibility. Charts were drawn to compare the two groups' results. RESULTS: Throught the ROC curve the score of 2.50 for diagnosis of Sjögren's syndrome was stabilished. Considering the aggregated patterns I with II and III with IV, the examinors' level of pattern agreement was excellent (Kappa ranging from 0.82 to 0.97, p<0.0001. The group with Sjögren's syndrome was classified mostly as patterns III and IV and the patients without ocular disease mostly as I and II. CONCLUSION: The

Longitudinal Profiles of Adaptive Behavior in Fragile X Syndrome

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Quintin, Eve-Marie; Jo, Booil; Lightbody, Amy A.; Hazlett, Heather Cody; Piven, Joseph; Hall, Scott S.; Reiss, Allan L.

2014-01-01

OBJECTIVE: To examine longitudinally the adaptive behavior patterns in fragile X syndrome. METHOD: Caregivers of 275 children and adolescents with fragile X syndrome and 225 typically developing children and adolescents (2–18 years) were interviewed with the Vineland Adaptive Behavior Scales every 2 to 4 years as part of a prospective longitudinal study. RESULTS: Standard scores of adaptive behavior in people with fragile X syndrome are marked by a significant decline over time in all domains for males and in communication for females. Socialization skills are a relative strength as compared with the other domains for males with fragile X syndrome. Females with fragile X syndrome did not show a discernible pattern of developmental strengths and weaknesses. CONCLUSIONS: This is the first large-scale longitudinal study to show that the acquisition of adaptive behavior slows as individuals with fragile X syndrome age. It is imperative to ensure that assessments of adaptive behavior skills are part of intervention programs focusing on childhood and adolescence in this condition. PMID:25070318

Patterns of Dysmorphic Features in Schizophrenia

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Scutt, L.E.; Chow, E.W.C.; Weksberg, R.; Honer, W.G.; Bassett, Anne S.

2011-01-01

Congenital dysmorphic features are prevalent in schizophrenia and may reflect underlying neurodevelopmental abnormalities. A cluster analysis approach delineating patterns of dysmorphic features has been used in genetics to classify individuals into more etiologically homogeneous subgroups. In the present study, this approach was applied to schizophrenia, using a sample with a suspected genetic syndrome as a testable model. Subjects (n = 159) with schizophrenia or schizoaffective disorder were ascertained from chronic patient populations (random, n=123) or referred with possible 22q11 deletion syndrome (referred, n = 36). All subjects were evaluated for presence or absence of 70 reliably assessed dysmorphic features, which were used in a three-step cluster analysis. The analysis produced four major clusters with different patterns of dysmorphic features. Significant between-cluster differences were found for rates of 37 dysmorphic features (P dysmorphic features (P = 0.0001), and validating features not used in the cluster analysis: mild mental retardation (P = 0.001) and congenital heart defects (P = 0.002). Two clusters (1 and 4) appeared to represent more developmental subgroups of schizophrenia with elevated rates of dysmorphic features and validating features. Cluster 1 (n = 27) comprised mostly referred subjects. Cluster 4 (n= 18) had a different pattern of dysmorphic features; one subject had a mosaic Turner syndrome variant. Two other clusters had lower rates and patterns of features consistent with those found in previous studies of schizophrenia. Delineating patterns of dysmorphic features may help identify subgroups that could represent neurodevelopmental forms of schizophrenia with more homogeneous origins. PMID:11803519

Sensory nerves are frequently involved in the spectrum of fisher syndrome.

Science.gov (United States)

Shahrizaila, Nortina; Goh, Khean J; Kokubun, Norito; Tan, Ai H; Tan, Cheng Y; Yuki, Nobuhiro

2014-04-01

Differing patterns of neurophysiological abnormalities have been reported in patients with Fisher syndrome. Fisher syndrome is rare, and few series have incorporated prospective serial studies to define the natural history of nerve conduction studies in Guillain-Barré syndrome. In an ongoing prospective study of Guillain-Barré syndrome patients, patients who presented with Fisher syndrome and its spectrum of illness were assessed through serial neurological examinations, nerve conduction studies, and serological testing of IgG against gangliosides and ganglioside complexes. Of the 36 Guillain-Barré syndrome patients identified within 2 years, 17 had features of Fisher syndrome. Serial nerve conduction studies detected significant abnormalities in sensory nerve action potential amplitude in 94% of patients associated with 2 patterns of recovery-non-demyelinating reversible distal conduction failure and axonal regeneration. Similar changes were seen in motor nerves of 5 patients. Patients with the Fisher syndrome spectrum of illness have significant sensory involvement, which may only be evident with serial neurophysiological studies. Copyright © 2013 Wiley Periodicals, Inc.

Spoiled child syndrome.

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McIntosh, B J

1989-01-01

People often speak of children as being "spoiled" and many parents worry about the possibility of spoiling their infants and children. Many pediatricians, however, are uncomfortable with this term because it is a poorly defined and derogatory expression. Some would even deny that infants and children can be spoiled. Avoiding the use of the expression spoiled can create difficulties in communicating with parents concerned about their children's behavior. In this article, the spoiled child syndrome will be defined and those patterns of behavior that characterize it will be distinguished from other patterns of difficult behavior which may be confused with it. The spoiled child syndrome is characterized by excessive self-centered and immature behavior, resulting from the failure of parents to enforce consistent, age-appropriate limits. Many of the problem behaviors that cause parental concern are unrelated to spoiling as properly understood. Such behaviors are often age-related normal behaviors, reactions to family stresses, or patterns of behavior determined by factors inherent in the child. Pediatricians can provide counseling and reassurance for such behaviors and, by helping parents understand the etiology of true spoiling, can encourage the use of behavior modification techniques for its prevention and treatment.

Exercise training improves autonomic function and inflammatory pattern in women with polycystic ovary syndrome (PCOS).

Science.gov (United States)

Giallauria, Francesco; Palomba, Stefano; Maresca, Luigi; Vuolo, Laura; Tafuri, Domenico; Lombardi, Gaetano; Colao, Annamaria; Vigorito, Carlo; Francesco, Orio

2008-11-01

Polycystic ovary syndrome (PCOS) is a common female reproductive-age endocrine disease predominantly characterized by chronic anovulation, hyperandrogenism, insulin-resistance and low-grade inflammatory status. Exercise training (ET) favourably modulates cardiopulmonary function and insulin-sensitivity markers in PCOS women. The present study investigated the effects of ET on autonomic function and inflammatory pattern in PCOS women. Prospective baseline uncontrolled clinical study. One-hundred and eighty five PCOS women referred to our department were screened for the inclusion into the study protocol from March 2004 to July 2007. One-hundred and twenty four PCOS women met the criteria for the inclusion into the study protocol and were subdivided into two groups each composed of 62 patients: PCOS-T (trained) group underwent 3-month ET program, whereas PCOS-UnT (untrained) group did not. At baseline and at 3-month follow-up, hormonal and metabolic profile, cardiopulmonary parameters, autonomic function (as expressed by heart rate recovery, HRR) and inflammatory pattern [as expressed by C-reactive protein (CRP) and white blood cells (WBCs) count] were evaluated. PCOS-T showed a significant (P PCOS-UnT. Multiple linear regression analysis showed that 3-month HRR is linearly related to the inclusion in training group (beta = 0.316, P PCOS women.

Analysis of intermolecular RNA-RNA recombination by rubella virus

International Nuclear Information System (INIS)

Adams, Sandra D.; Tzeng, W.-P.; Chen, M.-H.; Frey, Teryl K.

2003-01-01

To investigate whether rubella virus (RUB) undergoes intermolecular RNA-RNA recombination, cells were cotransfected with pairs of in vitro transcripts from genomic cDNA plasmid vectors engineered to contain nonoverlapping deletions: the replicative transcript maintained the 5'-proximal nonstructural (NS) ORF (which contained the replicase, making it RNA replication competent), had a deletion in the 3'-proximal structural protein (SP) ORF, and maintained the 3' end of the genome, including the putative 3' cis-acting elements (CSE), while the nonreplicative transcript consisted of the 3' half of the genome including the SP-ORF and 3' CSE. Cotransfection yielded plaque-forming virus that synthesized the standard genomic and subgenomic RNAs and thus was generated by RNA-RNA recombination. Using transcripts tagged with a 3'-terminal deletion, it was found that recombinants contained the 3' end derived from the replicative strand, indicating a cis-preference for initiation of negative-strand synthesis. In cotransfections in which the replicative transcript lacked the 3' CSE, recombination occurred, albeit at lower efficiency, indicating that initiation in trans from the NS-ORF can occur. The 3' CSE was sufficient as a nonreplicative transcript, showing that it can serve as a promoter for negative-strand RNA synthesis. While deletion mutagenesis showed that the presence of the junction untranslated region (J-UTR) between the ORFs appeared to be necessary on both transcripts for recombination in this region of the genome, analysis with transcripts tagged with restriction sites showed that the J-UTR was not a hot spot for recombination compared to neighboring regions in both ORFs. Sequence analysis of recombinants revealed that both precise (homologous) and imprecise recombination (aberrant, homologous resulting in duplications) occurred; however, imprecise recombination only involved the J-UTR or the 3' end of the NS-ORF and the J-UTR (maintaining the NS-ORF), indicating

Are ECG abnormalities in Noonan syndrome characteristic for the syndrome?

Science.gov (United States)

Raaijmakers, R; Noordam, C; Noonan, J A; Croonen, E A; van der Burgt, C J A M; Draaisma, J M T

2008-12-01

Of all patients with Noonan syndrome, 50-90% have one or more congenital heart defects. The most frequent occurring are pulmonary stenosis (PS) and hypertrophic cardiomyopathy. The electrocardiogram (ECG) of a patient with Noonan syndrome often shows a characteristic pattern, with a left axis deviation, abnormal R/S ratio over the left precordium, and an abnormal Q wave. The objective of this study was to determine if these ECG characteristics are an independent feature of the Noonan syndrome or if they are related to the congenital heart defect. A cohort study was performed with 118 patients from two university hospitals in the United States and in The Netherlands. All patients were diagnosed with definite Noonan syndrome and had had an ECG and echocardiography. Sixty-nine patients (58%) had characteristic abnormalities of the ECG. In the patient group without a cardiac defect (n = 21), ten patients had a characteristic ECG abnormality. There was no statistical relationship between the presence of a characteristic ECG abnormality and the presence of a cardiac defect (p = 0.33). Patients with hypertrophic cardiomyopathy had more ECG abnormalities in total (p = 0.05), without correlation with a specific ECG abnormality. We conclude that the ECG features in patients with Noonan syndrome are characteristic for the syndrome and are not related to a specific cardiac defect. An ECG is very useful in the diagnosis of Noonan syndrome; every child with a Noonan phenotype should have an ECG and echocardiogram for evaluation.

The Antley-Bixler syndrome: two new cases.

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Hosalkar H

2001-10-01

Full Text Available The Antley-Bixler syndrome is a rare multiple congenital anomaly with a high mortality rate. The characteristic manifestations include craniosynostosis, radiohumeral synostosis, midface hypoplasia, joint contractures and arachnodactyly. We report two new cases of this syndrome and address the diagnostic features, associated malformations, inheritance patterns, prenatal findings, and briefly review the literature.

Capsella rubella TGA4, a bZIP transcription factor, causes delayed flowering in Arabidopsis thaliana

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Li Maofu

2016-01-01

Full Text Available Flowering time is usually regulated by many environmental factors and endogenous signals. TGA family members are bZIP transcription factors that bind to the octopine synthase element, which has been closely linked to defense/stress responses. Most TGA factors interact with non-expressor of PR1 (NPR1 and plant defense responses are strengthened by this interaction. TGA1and TGA4factors bind to NPR1 only in salicylic acid (SA-induced leaves, suggesting that TGA4 has another function during plant development. Here, we isolated a bZIP transcription factor gene, TGA4, from Capsella rubella. TGA4transcripts were detected in most tissues, with high expression in leaves, low expression in stems and flowering buds, and undetectable in siliques. CruTGA4was over expressed in Arabidopsis thaliana wild typeCol-0 plants. Flowering time and total leaf number in the transgenic plants showed that overexpression of CruTGA4could delay flowering in A. thaliana. Our findings suggest that TGA4 may act as flowering regulator that controls plant flowering.

A clinical case study of a Wolfram syndrome-affected family: pattern-reversal visual evoked potentials and electroretinography analysis.

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Langwińska-Wośko, Ewa; Broniek-Kowalik, Karina; Szulborski, Kamil

2012-04-01

Wolfram syndrome (WFS), or DIDMOAD, is a rare (1/100 000 to 1/770 000), progressive neurodegenerative disorder. In its early stages, it is characterized by insulin-dependent diabetes mellitus, optic atrophy and loss of sensorineural hearing-this is followed by diabetes insipidus, progressive neurological abnormalities and other endocrine abnormalities, which occur in later years. The aim of this study was to report on the clinical and electrophysiological findings from a family with the WFS1 mutation. The five family members were subjected to a complete ophthalmic examination, which included a flash full-field electroretinogram and pattern-reversal visual evoked potentials (PVEPs) performed according to ISCEV standards. Optic atrophy was confirmed in two homozygotic patients, where P100 latencies were significantly delayed-up to 146 ms in PVEP. P100 latencies were normal in the three heterozygotic patients we examined. Curve morphology abnormalities were observed in all five patients we examined. No literature describing the morphology of PVEP in Wolfram syndrome patients was found. In flash electroretinography, scotopic and photopic responses appeared in normal morphology and value. Diabetic retinopathy was not observed in the diabetes mellitus patients.

Nutcracker syndrome

International Nuclear Information System (INIS)

Jolley, Ingrid

2014-01-01

Purpose: The purpose of this case study is to highlight the symptoms of the Nutcracker Syndrome (NCS), the methods of clinical investigations and the importance of differential diagnosis. Introduction: The NCS refers to left renal vein entrapment caused by abnormal branching patterns of the superior mesenteric artery from the aorta. 1,2 Clinical case presentation: A 27 years old female presented to the emergency department with complaints of abdominal discomfort, bloating, loose bowel motions and irregular micro-haematuria. The radiologist's report indicated the findings from computed tomography examination to be consistent with anterior NCS. Discussion: In most of the NCS cases the clinical symptoms are non-specific. 3 The syndrome is caused by a vascular disorder, but its clinical manifestation can relate to a wide range of abdominal, urological, endovascular or gynaecological pathologies. 4 Conclusion: Nutcracker Syndrome is a relatively rare disease and underdiagnosed may lead to left renal vein thrombosis

Cerebral, cerebellar, and colobomatous anomalies in three related males: Sex-linked inheritance in a newly recognized syndrome with features overlapping with Joubert syndrome

NARCIS (Netherlands)

Kroes, Hester Y.; Nievelstein, Rutger-Jan A. J.; Barth, Peter G.; Nikkels, Peter G. J.; Bergmann, Carsten; Gooskens, Rob H. J. M.; Visser, Gepke; van Amstel, Hans-Kristian Ploos; Beemer, Frits A.

2005-01-01

We present a so far unrecognized X-linked mental retardation syndrome with features overlapping with Joubert syndrome (JBS). Two brothers showed hypotonia, mental retardation, ocular abnormalities with impaired vision and colobomas and a breathing pattern compatible with JBS. Neuroimaging revealed

The pulmonary histopathology of anti-KS transfer RNA synthetase syndrome.

Science.gov (United States)

Schneider, Frank; Aggarwal, Rohit; Bi, David; Gibson, Kevin; Oddis, Chester; Yousem, Samuel A

2015-01-01

The clinical spectrum of the antisynthetase syndromes (AS) has been poorly defined, although some frequently present with pulmonary manifestations. The anti-KS anti-asparaginyl-transfer RNA synthetase syndrome is one in which pulmonary interstitial lung disease is almost always present and yet the histopathologic spectrum is not well described. To define the morphologic manifestations of pulmonary disease in those patients with anti-KS antiasparaginyl syndrome. We reviewed the connective tissue disorder registry of the University of Pittsburgh and identified those patients with anti-KS autoantibodies who presented with interstitial lung disease and had surgical lung biopsies. The 5 patients with anti-KS antisynthetase syndrome were usually women presenting with dyspnea and without myositis, but with mechanic's hands (60%) and Raynaud phenomenon (40%). They most often presented with a usual interstitial pneumonia pattern of fibrosis (80%), with the final patient displaying organizing pneumonia. Pulmonary interstitial lung disease is a common presentation in patients with the anti-KS-antisynthetase syndrome, who are often women with rather subtle or subclinical connective tissue disease, whereas the literature emphasizes the nonspecific interstitial pneumonia pattern often diagnosed clinically. Usual interstitial pneumonia and organizing pneumonia patterns of interstitial injury need to be added to this clinical differential diagnosis.

Management of Lowe syndrome: a case report

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Risky Vitria Prasetyo

2015-06-01

Full Text Available Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL is a multisystem disorder characterized by anomalies affecting the eyes, nervous system and kidneys.1-3 The disorder was first recognized by Lowe et al. in 1952, and described as a unique syndrome with organic aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation. In 1954, renal Fanconi syndrome was recognized as being associated with Lowe syndrome and in 1965, a recessive X-linked pattern of inheritance was determined.2,4 Lowe syndrome is a very rare disease, with an estimated prevalence in the general population of 1 in 500,000. According to the Lowe Syndrome Association (LSA in the USA, the estimated prevalence is between 1 and 10 affected males in 1,000,000 people, with 190 living in the year 2000. The Italian Association of Lowe Syndrome estimated that there were 34 Lowe syndrome patients (33 boys and one girl living in Italy in the year 2005.2,4,5 It almost exclusively affects males.6 Physicians may not be familiar with Lowe syndrome due to its rarity.4

Klinefelter's syndrome (karyotype 47,XXY) and schizophrenia-spectrum pathology

NARCIS (Netherlands)

Van Rijn, Sophie; Aleman, Andre; Swaab, Hanna; Kahn, Rene S.

2006-01-01

Klinefelter's syndrome, characterised by a 47,XXYchromosomal pattern, has largely been associated with physical abnormalities. Here, we report high levels of schizophrenia-spectrum pathology in 32 men with this syndrome in comparison with 26 healthy controls. This may have implications for treatment

Periodontal disease in individuals with Down Syndrome: genetic focus

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Lícia Bezerra Cavalcante

2009-12-01

Full Text Available Fundamental concepts of etiology, inheritance and clinical characteristics of Down syndrome are used in this review as a basis for submission of studies that focus on periodontal disease in individuals with Down syndrome, since almost 100% of them develop the disease in adult life. It is believed that in association with environmental and cultural factors related to hygiene and disabilities of coordination, the immunological characteristics that are found altered in individuals with Down syndrome, such as deficient neutrophil chemotaxis and reduced number of mature T lymphocytes, may contribute to the greater prevalence and severity of periodontal involvement in patients with Down syndrome. Moreover, the pattern of periodontal destruction observed in individuals with Down syndrome is consistent with aggressive periodontitis, with a predominance of periodontopathogens such as Aggregatibacter actinomycetemcomitans, Porphyromonas gingivalis and Tannerella forsythensis during childhood and adolescence of Down’s syndrome patients. It is possible to note a relationship between the development of molecular techniques and the evolution of knowledge about Down syndrome, for example: identification of the trisomy syndrome by observing only part of chromosome 21 (distal long arm; identification of genes in this trisomic region and the pattern of superexpression (or not of these genes. Moreover, in this review future perspectives are presented with regard to better understanding Down syndrome in the genetic context, which will reflect in more individualized and effective clinical treatments that will provide these patients with a better quality of life.

Immunogenicity and safety of a novel MMR vaccine (live, freeze-dried) containing the Edmonston-Zagreb measles strain, the Hoshino mumps strain, and the RA 27/3 rubella strain: Results of a randomized, comparative, active controlled phase III clinical trial.

Science.gov (United States)

Sood, Ashwani; Mitra, Monjori; Joshi, Himanshu Arvind; Nayak, Uma Siddhartha; Siddaiah, Prashanth; Babu, T Ramesh; Mahapatro, Samarendra; Sanmukhani, Jayesh; Gupta, Gaurav; Mittal, Ravindra; Glueck, Reinhard

2017-07-03

This phase III clinical trial was conducted to evaluate the immunogenicity and safety of the single-dose and multi-dose formulations of a novel MMR vaccine (live, freeze-dried) developed by M/s Cadila Healthcare Limited, India (Cadila MMR vaccine), containing the Hoshino mumps strain, compared to that of an existing MMR vaccine (live, freeze-dried) developed by M/s Serum Institute of India Limited, India (Serum MMR vaccine). These two vaccines have similar measles and rubella strains, but different mumps strains (Hoshino in Cadila MMR vaccine, and L-Zagreb in Serum MMR vaccine). Three hundred and twenty-eight subjects of either sex, aged 15-18 months, were randomized in a 2:1 ratio to receive either the Cadila or Serum MMR vaccine. Immunogenicity assessments (IgG antibodies against measles, mumps, and rubella viruses) were done at baseline and 42 d after vaccination. Solicited (local and systemic) and unsolicited adverse events were recorded for up to 42 d following vaccination. The Cadila MMR vaccine was found to be non-inferior to the Serum MMR vaccine in terms of end-of-study proportion of subjects seropositive for anti-measles antibodies (100.0% in both groups), anti-mumps antibodies (94.5% vs. 94.0%), and anti-rubella antibodies (95.5% vs. 91.0%). Both vaccines were well tolerated by all study participants; the most common adverse event reported in both groups was fever, followed by rash. The results of this phase III clinical trial show that the novel Cadila MMR vaccine is non-inferior to the Serum MMR vaccine.

Immunogenicity and safety of concomitant administration of a measles, mumps and rubella vaccine (M-M-RvaxPro) and a varicella vaccine (VARIVAX) by intramuscular or subcutaneous routes at separate injection sites: a randomised clinical trial.

Science.gov (United States)

Gillet, Yves; Habermehl, Pirmin; Thomas, Stéphane; Eymin, Cécile; Fiquet, Anne

2009-04-14

When this trial was initiated, the combined measles, mumps and rubella (MMR) vaccine was licensed for subcutaneous administration in all European countries and for intramuscular administration in some countries, whereas varicella vaccine was licensed only for subcutaneous administration. This study evaluated the intramuscular administration of an MMR vaccine (M-M-RvaxPro) and a varicella vaccine (VARIVAX) compared with the subcutaneous route. An open-label randomised trial was performed in France and Germany. Healthy children, aged 12 to 18 months, received single injections of M-M-RvaxPro and VARIVAX concomitantly at separate injection sites. Both vaccines were administered either intramuscularly (IM group, n = 374) or subcutaneously (SC group, n = 378). Immunogenicity was assessed before vaccination and 42 days after vaccination. Injection-site erythema, swelling and pain were recorded from days 0 to 4 after vaccination. Body temperature was monitored daily between 0 and 42 days after vaccination. Other adverse events were recorded up to 42 days after vaccination and serious adverse events until the second study visit. Antibody response rates at day 42 in the per-protocol set of children initially seronegative to measles, mumps, rubella or varicella were similar between the IM and SC groups for all four antigens. Response rates were 94 to 96% for measles, 98% for both mumps and rubella and 86 to 88% for varicella. For children initially seronegative to varicella, 99% achieved the seroconversion threshold (antibody concentrations of >or= 1.25 gpELISA units/ml). Erythema and swelling were the most frequently reported injection-site reactions for both vaccines. Most injection-site reactions were of mild intensity or small size (vaccines was comparable regardless of administration route. Integration of both administration routes in the current European indications for the two vaccines will now allow physicians in Europe to choose their preferred administration route

Mediterranean dietary pattern and VEGF +405 G/C gene polymorphisms in patients with metabolic syndrome: An aspect of gene-nutrient interaction.

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Hajiluian, Ghazaleh; Abbasalizad Farhangi, Mahdieh; Jahangiry, Leila

2017-01-01

To evaluate the relationship between Mediterranean dietary pattern, anthropometric and metabolic biomarkers and vascular endothelial growth factor (VEGF) +405 G/C gene polymorphism in patient with metabolic syndrome (Mets). In this study 150 patients with Mets and 50 healthy subjects were enrolled. Dietary intakes were evaluated with a semi-quantitative food-frequency questionnaire (FFQ) and Mediterranean dietary quality index (Med-DQI) was assessed. Anthropometric assessments and blood pressure measurement were performed. Biochemical assays including fasting serum glucose (FSG), matrix metalloproteinase-3 (MMP-3), liver enzymes and lipid profiles were also assessed. Polymorphism of +405 G/C VEGF gene was determined utilizing polymerase chain reaction-restriction fragments length polymorphism (PCR-RFLP) method. Serum high density lipoprotein-cholesterol (HDL-C) was significantly lower and low density lipoprotein cholesterol (LDL-C), triglyceride (TG), total cholesterol (TC) concentrations and FSG were significantly higher in metabolic syndrome patients compared with control group (P consumption of "cholesterol" had significantly upper serum TG; also high consumption of "fish" and "vegetables-fruits" was associated with a significantly lower serum LDL concentrations. In metabolic syndrome patients with CC genotype, mean score of "saturated fatty acid" subgroup was significantly higher compared with other genotypes; whereas, in healthy individuals, mean score of "fruit-vegetable" subgroup in individuals of CC and GG genotype was significantly higher (P<0.05). Our findings indicated a significant relationship between Mediterranean dietary quality index and both anthropometric and metabolic risk factors. We also indicated a higher "saturated fatty acid" intake in CC genotype among metabolic syndrome patients.

Gorlin-Goltz syndrome.

Science.gov (United States)

Şereflican, Betül; Tuman, Bengü; Şereflican, Murat; Halıcıoğlu, Sıddıka; Özyalvaçlı, Gülzade; Bayrak, Seval

2017-09-01

Gorlin-Goltz syndrome is a rare multisystemic disease inherited in an autosomal dominant pattern. It is characterized by numerous basal cell carcinoma of the skin, jaw cysts, and skeletal anomalies such as frontal bossing, vertebral anomalies, palmoplantar pits, and falx cerebri calcification. There is a tendency to tumors including medullablastoma, fibroma, rabdomyoma, leiomyosarcoma etc.. The diagnosis is based on major and minor clinical and radiologic criteria. Early diagnosis and treatment are of utmost importance in reducing the severity of long-term sequelae of this syndrome. In this article, we present a 15-year-old boy who was admitted to our clinic with brown-black papules and plaques on his scalp and was thought to have Gorlin-Goltz syndrome. He had a history of medulloblastoma that was treated with surgical resection followed by cranial radiotherapy and unilateral retinoblastoma. We present this case, because association of Gorlin-Goltz syndrome and retinoblastoma has not been described previously in the literature and we aimed to draw attention to radiation-induced basal cell carcinomas.

Cerebro-costo-mandibular syndrome

International Nuclear Information System (INIS)

Flodmark, P.; Wattsgaard, C.

2001-01-01

Cerebro-costo-mandibular syndrome is a rare disorder characterized by rib malformations, various degrees of cerebral maldevelopment, mental deficiency, palatal defects, and micrognatia. This syndrome was first described in 1966. The majority of cases are sporadic, but a few instances of familial occurrence have been reported, some with an autosomal recessive pattern of inheritance. Mortality in early age has been high, probably mostly due to respiratory insufficiency secondary to rib abnormalities and flail chest. We report a mother and son with this disorder, suggesting autosomal dominant transmission. (orig.)

Landscape Variation in Plant Defense Syndromes across a Tropical Rainforest

Science.gov (United States)

McManus, K. M.; Asner, G. P.; Martin, R.; Field, C. B.

2014-12-01

Plant defenses against herbivores shape tropical rainforest biodiversity, yet community- and landscape-scale patterns of plant defense and the phylogenetic and environmental factors that may shape them are poorly known. We measured foliar defense, growth, and longevity traits for 345 canopy trees across 84 species in a tropical rainforest and examined whether patterns of trait co-variation indicated the existence of plant defense syndromes. Using a DNA-barcode phylogeny and remote sensing and land-use data, we investigated how phylogeny and topo-edaphic properties influenced the distribution of syndromes. We found evidence for three distinct defense syndromes, characterized by rapid growth, growth compensated by defense, or limited palatability/low nutrition. Phylogenetic signal was generally lower for defense traits than traits related to growth or longevity. Individual defense syndromes were organized at different taxonomic levels and responded to different spatial-environmental gradients. The results suggest that a diverse set of tropical canopy trees converge on a limited number of strategies to secure resources and mitigate fitness losses due to herbivory, with patterns of distribution mediated by evolutionary histories and local habitat associations. Plant defense syndromes are multidimensional plant strategies, and thus are a useful means of discerning ecologically-relevant variation in highly diverse tropical rainforest communities. Scaling this approach to the landscape level, if plant defense syndromes can be distinguished in remotely-sensed data, they may yield new insights into the role of plant defense in structuring diverse tropical rainforest communities.

Optic nerve histopathology in a case of Wolfram Syndrome: a mitochondrial pattern of axonal loss.

Science.gov (United States)

Ross-Cisneros, Fred N; Pan, Billy X; Silva, Ruwan A; Miller, Neil R; Albini, Thomas A; Tranebjaerg, Lisbeth; Rendtorff, Nanna D; Lodahl, Marianne; Moraes-Filho, Milton N; Moraes, Milton N; Salomao, Solange R; Berezovsky, Adriana; Belfort, Rubens; Carelli, Valerio; Sadun, Alfredo A

2013-11-01

Mitochondrial dysfunction in Wolfram Syndrome (WS) is controversial and optic neuropathy, a cardinal clinical manifestation, is poorly characterized. We here describe the histopathological features in postmortem retinas and optic nerves (ONs) from one patient with WS, testing the hypothesis that mitochondrial dysfunction underlies the pathology. Eyes and retrobulbar ONs were obtained at autopsy from a WS patient, and compared with those of a Leber hereditary optic neuropathy (LHON) patient and one healthy control. Retinas were stained with hematoxylin & eosin for general morphology and ONs were immunostained for myelin basic protein (MBP). Immunostained ONs were examined in four "quadrants": superior, inferior, nasal, and temporal. The WS retinas displayed a severe loss of retinal ganglion cells in the macular region similar to the LHON retina, but not in the control. The WS ONs, immunostained for MBP, revealed a zone of degeneration in the temporal and inferior quadrants. This pattern was similar to that seen in the LHON ONs but not in the control. Thus, the WS patient displayed a distinct pattern of optic atrophy observed bilaterally in the temporal and inferior quadrants of the ONs. This arrangement of axonal degeneration, involving primarily the papillomacular bundle, closely resembled LHON and other mitochondrial optic neuropathies, supporting that mitochondrial dysfunction underlies its pathogenesis. Copyright © 2013 Elsevier B.V. All rights reserved.

The Greig cephalopolysyndactyly syndrome

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Biesecker Leslie G

2008-04-01

Full Text Available Abstract The Greig cephalopolysyndactyly syndrome (GCPS is a pleiotropic, multiple congenital anomaly syndrome. It is rare, but precise estimates of incidence are difficult to determine, as ascertainment is erratic (estimated range 1–9/1,000,000. The primary findings include hypertelorism, macrocephaly with frontal bossing, and polysyndactyly. The polydactyly is most commonly preaxial of the feet and postaxial in the hands, with variable cutaneous syndactyly, but the limb findings vary significantly. Other low frequency findings include central nervous system (CNS anomalies, hernias, and cognitive impairment. GCPS is caused by loss of function mutations in the GLI3 transcription factor gene and is inherited in an autosomal dominant pattern. The disorder is allelic to the Pallister-Hall syndrome and one form of the acrocallosal syndrome. Clinical diagnosis is challenging because the findings of GCPS are relatively non-specific, and no specific and sensitive clinical have been delineated. For this reason, we have proposed a combined clinical-molecular definition for the syndrome. A presumptive diagnosis of GCPS can be made if the patient has the classic triad of preaxial polydactyly with cutaneous syndactyly of at least one limb, hypertelorism, and macrocephaly. Patients with a phenotype consistent with GCPS (but which may not manifest all three attributes listed above and a GLI3 mutation may be diagnosed definitively with GCPS. In addition, persons with a GCPS-consistent phenotype who are related to a definitively diagnosed family member in a pattern consistent with autosomal dominant inheritance may be diagnosed definitively as well. Antenatal molecular diagnosis is technically straightforward to perform. Differential diagnoses include preaxial polydactyly type 4, the GCPS contiguous gene syndrome, acrocallosal syndrome, Gorlin syndrome, Carpenter syndrome, and Teebi syndrome. Treatment of the disorder is symptomatic, with plastic or

Leg 201Tl-SPECT in chronic exertional compartment syndrome

International Nuclear Information System (INIS)

Elkadri, N.; Slim, I.; Blondet, C.; Choquet, Ph.; Constantinesco, A.; Lecocq, J.

2004-01-01

Leg 201 Tl-SPECT in chronic exertional compartment syndrome Background: The chronic exertional compartment syndrome is one of the most frequent origins regarding leg pain due to sport training. The diagnosis can be established by invasive compartment pressure measurement. The aim of this study is to evaluate the role that could have 201 Tl-SPECT for patients with suspicion of compartment syndrome. Patients and methods: 51 leg 201 Tl-SPECT exams were performed (exercise - and rest without reinjection) in 49 patients; 28 had compartment syndrome confirmed by pressure measurement. About 100 MBq of 201 Tl were injected during exercise, when pain appeared or at least after 25 minutes exercise. We studied mean percentages of level uptake for each compartment, referred to the maximal uptake of both legs. Results: 47 compartments were concerned by compartment syndrome and 361 compartments were not. Scintigraphic patterns in compartments are reversible ischaemia (45%), uptake stability (36%) or reverse redistribution (19%); these patterns are not linked to compartment syndrome. However, there is a significant difference of rest 201 Tl level uptake between compartments with and without compartment syndrome and a significant correlation between muscular pressure measurement and rest level uptake. Conclusion: 201 Tl-SPECT shows that only ischaemia does not explain compartment syndrome. Moreover, it allows to predict pressure variation during exercise but it does not offer any interest in order to select patients for muscular invasive pressure measurement. (author)

A visceral adiposity index-related dietary pattern and the cardiometabolic profiles in women with polycystic ovary syndrome.

Science.gov (United States)

Ehsani, Behnaz; Moslehi, Nazanin; Mirmiran, Parvin; Ramezani Tehrani, Fahimeh; Tahmasebinejad, Zhale; Azizi, Fereidoun

2016-10-01

Visceral adiposity index (VAI), an indicator of visceral adiposity, has been found to be associated with cardiometabolic disturbances in women with polycystic ovary syndrome (PCOS). The association of dietary intakes with VAI, and subsequently cardiometabolic variables is still unclear. The aims of this study were to identify a dietary pattern associated with VAI and to investigate whether this pattern is associated with cardiometabolic variables in PCOS women. The study was conducted on 53 PCOS women, aged 18-45 years, diagnosed according to National Institutes of Health (NIH) criteria, and 167 age-matched normo-ovulatory women who were recruited from the Tehran Lipid and Glucose Study. Reduced rank regression was applied to determine a dietary pattern that explains the maximum variation of the VAI. Associations between the dietary pattern and cardiometabolic profiles were investigated using linear and logistic regression, adjusted for age and BMI. A VAI dietary pattern was identified characterized by high consumption of fried vegetables, vegetable oils (except olive oil), salty snacks, legumes, eggs, fast foods and low consumption of traditional sweets, high and low fat dairy, cruciferous vegetables, sugars and honey. A one standard deviation (SD) increase in dietary pattern score was significantly associated with higher triglycerides (TGs) (βcontrol = 0.22, p = 0.003; βcase = 0.48, p = 0.001) and TGs/HDL-C ratio (βcontrol = 0.23, p = 0.002; βcase = 0.52, p = 0.001) in both groups. After adjusting for age and BMI, a 1-SD increase in dietary pattern score was associated with increased risk of VAD in PCOS (OR 2.77; 95% CI 1.15, 6.66) and control groups (OR 2.41; 95% CI 1.41-4.12). In the control group, the risk of hypercholesterolemia, hypertriglyceridemia, high LDL-C, low HDL-C, hyperglycemia and IGT + IFG increased significantly per 1-SD increase in dietary pattern score, which all remained significant after adjusting for age and BMI, except

A review of Down's syndrome studies and ionizing radiation

International Nuclear Information System (INIS)

Rose, K.S.B.

1994-01-01

This review collates results from 3 high dose (> 0.1 Gy) and 23 low dose epidemiological studies of parental radiation exposure and Down's syndrome incidence. A pattern of consistent results appears in 13 studies of irradiation received by women for diagnostic purposes. The pattern is an increase in Down's syndrome, the increase being approximately equivalent to an ovarian doubling dose of 20 mGy. The value is definitely not compatible with results from the high dose studies. Results from the other 10 low dose studies were used to test this value but most proved to be unsuitable for a variety of reasons. However, no associations between levels of high natural background and Down's syndrome have been observed in either New England or Aberdeen, which are areas in developed countries where reliable statistics ar collected. (author)

A syndrome of epilepsy, dementia, and amelogenesis imperfecta: genetic and clinical features.

OpenAIRE

Christodoulou, J; Hall, R K; Menahem, S; Hopkins, I J; Rogers, J G

1988-01-01

A family is described with six members affected by a syndrome of epilepsy, dementia, and amelogenesis imperfecta (Kohlschütter's syndrome). An autosomal recessive pattern of inheritance is established for this disorder.

Growth charts for children with Ellis-van Creveld syndrome

NARCIS (Netherlands)

S. Verbeek (Sabine); P.H.C. Eilers (Paul); K.A. Lawrence (Karen); R.C.M. Hennekam (Raoul); F.G. Versteegh (Florens)

2011-01-01

textabstractEllis-van Creveld (EvC) syndrome is a congenital malformation syndrome with marked growth retardation. In this study, specific growth charts for EvC patients were derived to allow better follow-up of growth and earlier detection of growth patterns unusual for EvC. With the use of 235

Growth charts for children with Ellis-van Creveld syndrome

NARCIS (Netherlands)

Verbeek, Sabine; Eilers, Paul H. C.; Lawrence, Kate; Hennekam, Raoul C. M.; Versteegh, Florens G. A.

2011-01-01

Ellis-van Creveld (EvC) syndrome is a congenital malformation syndrome with marked growth retardation. In this study, specific growth charts for EvC patients were derived to allow better follow-up of growth and earlier detection of growth patterns unusual for EvC. With the use of 235 observations of

A comparison study between RIA and HI procedures for Rubella in a small laboratory practice

International Nuclear Information System (INIS)

Kardos, L.A.

1983-01-01

Two different kits of Rubella Antibody determinations were compared; one, the HI, or Hemoagglutination Inhibition, and the other, an RIA or Radioimmunoassay. Both procedures were quite accurate, adequate, and reproducible, but the RIA procedure was found to be slightly more sensitive than the HI procedure. Two hundred and fifty pregnant women were tested and classified as to origin, background, and race. There was no difference in determination results on those bases. The American Black women had a higher percentage of immunity than the American Anglo-Saxon and European background women. The Latin American patients ranged with the American Black women along with the SE Asian women as far as the percent of immunity was concerned. RIA appears to be more sensitive than HI, especially where a finer delineation is required between immune and non-immune patient results. As far as performance is concerned, the RIA procedure is less complicated and, therefore, less vulnerable to human error. The HI procedure, though quite reproducible and an excellent diagnostic tool, is more time consuming and more involved so the chance for human error in that procedure might be increased

99mTc-HIDA cholescintigraphy in Dubin-Johnson and Rotor syndromes

International Nuclear Information System (INIS)

Bar-Meir, S.; Baron, J.; Seligson, U.; Gottesfeld, F.; Levy, R.; Gilat, T.

1982-01-01

99mTc-HIDA cholescintigraphy was performed in 6 patients with Dubin-Johnson syndrome and 1 patient with Rotor syndrome. In the patients with Dubin-Johnson syndrome, the cholescintigrams had a characteristic pattern of delayed visualization or nonvisualization of the gallbladder and bile ducts in the presence of intense, homogeneous, and prolonged visualization of the liver. In the patient with Rotor syndrome, the hepatobiliary system was not visualized at all. It is concluded that 99mTc-HIDA cholescintigraphy may be helpful in the diagnosis of Dubin-Johnson syndrome and Rotor syndrome and in the differential diagnosis between these two conditions

Patterns of acoustical activity of bats prior to and following White-nose Syndrome occurrence

Science.gov (United States)

Ford, W. Mark; Britzke, Eric R.; Dobony, Christopher A.; Rodrigue, Jane L.; Johnson, Joshua B.

2011-01-01

White-nose Syndrome (WNS), a wildlife health concern that has decimated cave-hibernating bat populations in eastern North America since 2006, began affecting source-caves for summer bat populations at Fort Drum, a U.S. Army installation in New York in the winter of 2007–2008. As regional die-offs of bats became evident, and Fort Drum's known populations began showing declines, we examined whether WNS-induced change in abundance patterns and seasonal timing of bat activity could be quantified using acoustical surveys, 2003–2010, at structurally uncluttered riparian–water habitats (i.e., streams, ponds, and wet meadows). As predicted, we observed significant declines in overall summer activity between pre-WNS and post-WNS years for little brown bats Myotis lucifugus, northern bats M. septentrionalis, and Indiana bats M. sodalis. We did not observe any significant change in activity patterns between pre-WNS and post-WNS years for big brown bats Eptesicus fuscus, eastern red bats Lasiurus borealis, or the small number of tri-colored bats Perimyotis subflavus. Activity of silver-haired bats Lasionycteris noctivagans increased from pre-WNS to post-WNS years. Activity levels of hoary bats Lasiurus cinereus significantly declined between pre- and post-WNS years. As a nonhibernating, migratory species, hoary bat declines might be correlated with wind-energy development impacts occurring in the same time frame rather than WNS. Intraseason activity patterns also were affected by WNS, though the results were highly variable among species. Little brown bats showed an overall increase in activity from early to late summer pre-WNS, presumably due to detections of newly volant young added to the local population. However, the opposite occurred post-WNS, indicating that reproduction among surviving little brown bats may be declining. Our data suggest that acoustical monitoring during the summer season can provide insights into species' relative abundance on the

Sudden Cardiac Arrest due to Brugada Syndrome: a Case Report and Literature Review

Directory of Open Access Journals (Sweden)

R Soleimanirad

2013-04-01

Full Text Available Brugada Syndrome is a rare cause of sudden cardiac arrest and has a unique ECG pattern. In fact, with ST-segment elevation down sloping in the right precordial leads (v1-v3, RBBB pattern in lateral leads and J-point elevation is revealed. We must notice and avoid trigger factors of this syndrome during general anesthesia. Patient is a 39 old man who attended to emergency department with sudden cardiac arrest and resuscitate. He was transferred to ICU for management of hypoxic ischemic encephalopathy. Complementary studies concluded the diagnosis of Brugada syndrome. We must consider Brugada syndrome within patients with family history of sudden cardiac arrest. Moreover, we must avoid trigger factors of this syndrome such as fever, bradicardia and electrolyte abnormality (specialy Na, Ca abnormalities during general anesthesia and if they appear, we should treat them.

Paraneoplastic syndromes and autoimmune encephalitis

Science.gov (United States)

Rosenfeld, Myrna R.; Titulaer, Maarten J.

2012-01-01

Summary We review novel findings in paraneoplastic syndromes including the Lambert-Eaton myasthenic syndrome, and then focus on the novel disorders associated with antibodies against cell surface antigens, discussing the importance and caveats of antibody testing, and providing an algorithm for interpretation of results. In anti-NMDAR encephalitis 2 novel findings include the recognition of a characteristic EEG pattern (“extreme delta brush”) in 30% of patients and the demonstration of a fronto-temporo-occipital gradient of glucose metabolism that correlates with disease activity. In limbic encephalitis, antibodies to GABA(B) receptor are the most frequently detected in patients with small-cell lung cancer who are anti-Hu negative, and antibodies to mGluR5 distinctively associate with Hodgkin lymphoma (Ophelia syndrome). We also address the syndromes associated with “VGKC-complex antibodies,” a problematic term that groups well-characterized immune-mediated disorders (LGI1, Caspr2) with others that lack syndrome specificity, are less responsive to treatment, and for which the target antigens are unknown. PMID:23634368

Discovering Structure in Auditory Input: Evidence from Williams Syndrome

Science.gov (United States)

Elsabbagh, Mayada; Cohen, Henri; Karmiloff-Smith, Annette

2010-01-01

We examined auditory perception in Williams syndrome by investigating strategies used in organizing sound patterns into coherent units. In Experiment 1, we investigated the streaming of sound sequences into perceptual units, on the basis of pitch cues, in a group of children and adults with Williams syndrome compared to typical controls. We showed…

Body composition, metabolism, sleep, psychological and eating patterns of overtraining syndrome: Results of the EROS study (EROS-PROFILE).

Science.gov (United States)

Cadegiani, Flavio A; Kater, Claudio E

2018-08-01

Overtraining syndrome (OTS) is caused by an imbalance between training, nutrition and resting, and leads to decreased performance and fatigue; however, the precise underlying triggers of OTS remain unclear. This study investigated the body composition, metabolism, eating, sleeping patterns and mood states among participants with OTS. Selected participants were divided into OTS-affected athletes (OTS, n = 14), healthy athletes (ATL, n = 25), and healthy non-physically active controls (NCS, n = 12). Compared to ATL, OTS showed decreased sleep quality (p = 0.004); increased duration of work or study (p sleep, and increased cognitive activity are likely OTS triggers. OTS appears to induce dehydration, increase body fat, decrease libido, and worsen mood.

Sleep phenotypes in infants and toddlers with neurogenetic syndromes.

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Abel, Emily A; Tonnsen, Bridgette L

2017-10-01

Although sleep problems are well characterized in preschool- and school-age children with neurogenetic syndromes, little is known regarding the early emergence of these problems in infancy and toddlerhood. To inform syndrome-specific profiles and targets for intervention, we compared parent-reported sleep problems in infants and toddlers with Angelman syndrome (AS), Williams syndrome (WS), and Prader-Willi syndrome (PWS) with patterns observed among same-aged typically developing (TD) controls. Mothers of 80 children (18 AS, 19 WS, 19 PWS, and 24 TD) completed the Brief Infant Sleep Questionnaire. Primary dependent variables included (1) sleep onset latency, (2) total sleep duration, (3) daytime and nighttime sleep duration, and (4) sleep problem severity, as measured by both maternal impression and National Sleep Foundation guidelines. Sleep problems are relatively common in children with neurogenetic syndromes, with 41% of mothers reporting problematic sleep and 29% of children exhibiting abnormal sleep durations as per national guidelines. Across genetic subgroups, problems are most severe in children with AS and WS, particularly in relation to nighttime sleep duration. Although atypical sleep is characteristically reported in each syndrome later in development, infants and toddlers with PWS exhibited largely typical patterns, potentially indicating delayed onset of sleep problems in concordance with other medical features of PWS. Our findings suggest that sleep problems in neurogenetic syndromes emerge as early as infancy and toddlerhood, with variable profiles across genetic subgroups. This work underscores the importance of early sleep screenings as part of routine medical care of neurosyndromic populations and the need for targeted, syndrome-sensitive treatment. Copyright © 2017 Elsevier B.V. All rights reserved.

Are women with severely symptomatic brugada syndrome different from men?

NARCIS (Netherlands)

Sacher, Frédéric; Meregalli, Paola; Veltmann, Christian; Field, Michael E.; Solnon, Aude; Bru, Paul; Abbey, Sélim; Jaïs, Pierre; Tan, Hanno L.; Wolpert, Christian; Lande, Gilles; Bertault, Valérie; Derval, Nicolas; Babuty, Dominique; Lacroix, Dominique; Boveda, Serge; Maury, Philippe; Hocini, Mélèze; Clémenty, Jacques; Mabo, Philippe; Lemarec, Hervé; Mansourati, Jacques; Borggrefe, Martin; Wilde, Arthur; Haïssaguerre, Michel; Probst, Vincent

2008-01-01

Women with Brugada Syndrome. INTRODUCTION: Spontaneous type-1 ECG has been recognized as a risk factor for sudden cardiac death (SCD) in Brugada syndrome (BrS), but studied populations predominantly consisted of men. We sought to investigate whether a spontaneous type-1 ECG pattern was also

Scintigraphic appearance of the piriformis muscle syndrome

International Nuclear Information System (INIS)

Karl, R.D. Jr.; Yedinak, M.A.; Hartshorne, M.F.; Cawthon, M.A.; Bauman, J.M.; Howard, W.H.; Bunker, S.R.

1985-01-01

This is the first report in the nuclear medicine literature of the scintigraphic appearance of the piriformis muscle syndrome. This syndrome previously has been thought to be a purely clinical diagnosis and imaging modalities have been ignored. However, its confusing clinical presentation can lead to unnecessary surgical exploration. This case is presented to illustrate the characteristic scintigraphic pattern and suggest the role of nuclear medicine scanning in establishing the diagnosis

Depression and Dementia in Aging Adults with Down Syndrome: A Case Study Approach.

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Sung, Hyunsook; And Others

1997-01-01

A case study of three adults (ages 46-47) with Down syndrome investigated the patterns of symptoms associated with depression and dementia. Characteristics that distinguish between dementia and depression in adults with Down syndrome are described. Periodic comprehensive assessment of adults with Down syndrome to detect functioning changes is…

Wellen′s syndrome: An ominous EKG pattern

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Mead Nicole

2009-01-01

Full Text Available Wellen′s syndrome is a characteristic T-wave on an electrocardiogram during a pain-free period in a patient with intermittent chest pain. This finding suggests a high-degree stenosis of the proximal left anterior descending (LAD coronary artery that will soon result in an acute anterior wall myocardial infarction (MI if the patient is not urgently catheterized and the occlusion opened. This case report discusses a young male patient with no known cardiac disease with an EKG that demonstrates the classic Wellen′s T-waves. He was urgently taken to cardiac catheterization and his 95% proximal LAD stenosis was reduced via drug-eluding stent. Through knowledge of Wellen′s T-waves, more anterior wall MIs can be prevented.

Pattern of steroid-resistant nephrotic syndrome in children and the ...

African Journals Online (AJOL)

Background. Steroid-resistant nephrotic syndrome (SRNS) is a common problem in paediatric nephrology practice. There is currently little information on the spectrum of histopathological lesions in children presenting with SRNS in India and other south-east Asian countries. Objective. To determine the histopathological ...

Daily blood pressure profile in Cushing's syndrome before and after surgery

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Kreze A.

1999-01-01

Full Text Available No significant difference has been demonstrated in the altered circadian blood pressure pattern between the pituitary-dependent and adrenal forms of Cushing's syndrome before surgery. The effect of therapy, however, proved to be different. The mesor was normalized in the pituitary-dependent Cushing's syndrome more conspicuously for systolic than for diastolic blood pressure. In Cushing's syndrome due to adrenal adenoma, systolic and diastolic blood pressure mesors have been even significantly "overnormalized" after treatment, being 11 to 27 and 2 to 13 mmHg (95% confidence lower than corresponding mesors in controls. There was no difference between forms in the effect of treatment on blood pressure amplitudes, which remained significantly lower than in controls. Finally, acrophase patterns were partly normalized after treatment of the pituitary-dependent form only for diastolic blood pressure, while both systolic and diastolic blood pressure acrophases were normalized in the treated adrenal form. In conclusion, complete normalization of the pattern of daily blood pressure profile has not been achieved in either form of the syndrome. This may be one of the reasons for the reduced long-term survival after surgical cure of hypercortisolism, than expected.

Teratology: from science to birth defects prevention.

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Rasmussen, Sonja A; Erickson, J David; Reef, Susan E; Ross, Danielle S

2009-01-01

One of the goals of birth defects research is to better understand risk or preventive factors for birth defects so that strategies for prevention can be developed. In this article, we have selected four areas of birth defects research that have led to the development of prevention strategies. These areas include rubella virus as a cause of congenital rubella syndrome, folic acid as a preventive factor for neural tube defects, cytomegalovirus infection as a cause of birth defects and developmental disabilities, and alcohol as a cause of fetal alcohol spectrum disorders. For each of these areas, we review key clinical and research findings that led to the identification of the risk or preventive factor, milestones in the development of prevention strategies, and the progress made thus far toward prevention.

Evaluation of the effect of RFCA in patients with WPW syndrome using RPA

International Nuclear Information System (INIS)

Zhang Wei; Dong Shenan; Jiang Yimin

1996-01-01

Whether radionuclide phase analysis (RPA) could evaluate the effect of radiofrequency current ablation (RFCA) in patients with Wolff-Parkinson-White (WPW) syndrome was evaluated. 18 patients with WPW syndrome were studied using RPA pre- and post-RFCA. RPA identified the sites of pre-excitation in all patients before RFCA. Compared with the pre-RFCA study, the sites of pre-excitation disappeared in 12 cases, disappeared gradually in 4 cases and unchanged in 2 cases. 50 RFCA was successful in the former two patterns, but failed in the last pattern. RPA can evaluate the changes of pre-excitation sites in patients with WPW syndrome before and after RFCA. It was a noninvasive and reliable method for assessing and monitoring the effect of RFCA in patients with WPW syndrome

Cognitive and behavioral heterogeneity in genetic syndromes

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Luiz F.L. Pegoraro

2014-04-01

Full Text Available OBJECTIVE: this study aimed to investigate the cognitive and behavioral profiles, as well as the psychiatric symptoms and disorders in children with three different genetic syndromes with similar sociocultural and socioeconomic backgrounds. METHODS: thirty-four children aged 6 to 16 years, with Williams-Beuren syndrome (n = 10, Prader-Willi syndrome (n = 11, and Fragile X syndrome (n = 13 from the outpatient clinics of Child Psychiatry and Medical Genetics Department were cognitively assessed through the Wechsler Intelligence Scale for Children (WISC-III. Afterwards, a full-scale intelligence quotient (IQ, verbal IQ, performance IQ, standard subtest scores, as well as frequency of psychiatric symptoms and disorders were compared among the three syndromes. RESULTS: significant differences were found among the syndromes concerning verbal IQ and verbal and performance subtests. Post-hoc analysis demonstrated that vocabulary and comprehension subtest scores were significantly higher in Williams-Beuren syndrome in comparison with Prader-Willi and Fragile X syndromes, and block design and object assembly scores were significantly higher in Prader-Willi syndrome compared with Williams-Beuren and Fragile X syndromes. Additionally, there were significant differences between the syndromes concerning behavioral features and psychiatric symptoms. The Prader-Willi syndrome group presented a higher frequency of hyperphagia and self-injurious behaviors. The Fragile X syndrome group showed a higher frequency of social interaction deficits; such difference nearly reached statistical significance. CONCLUSION: the three genetic syndromes exhibited distinctive cognitive, behavioral, and psychiatric patterns.

MRI assessment of bronchial compression in absent pulmonary valve syndrome and review of the syndrome

International Nuclear Information System (INIS)

Taragin, Benjamin H.; Berdon, Walter E.; Prinz, B.

2006-01-01

Absent pulmonary valve syndrome (APVS) is a rare cardiac malformation with massive pulmonary insufficiency that presents with short-term and long-term respiratory problems secondary to severe bronchial compression from enlarged central and hilar pulmonary arteries. Association with chromosome 22.Q11 deletions and DiGeorge syndrome is common. This historical review illustrates the airway disease with emphasis on assessment of the bronchial compression in patients with persistent respiratory difficulties post-valvular repair. Cases that had MRI for cardiac assessment are used to illustrate the pattern of airway disease. (orig.)

Dietary Patterns Are Associated with Stroke in Chinese Adults

NARCIS (Netherlands)

Li, Y.P.; He, Y.; Lai, J.Q.; Wang, D.; Zhang, J.; Fu, P.; Yang, X.G.; Qi, L.

2011-01-01

We recently featured Chinese dietary patterns that were associated with obesity, hyperglycemia, hypertension, and metabolic syndrome. In this study, we examined the association of those dietary patterns and risk of stroke among 26,276 Chinese adults aged >= 45 y by using data from the 2002 China

The Measels-Mumps-Rubella Vaccination from a health political and economical point of view

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Habl, Claudia

2007-11-01

Full Text Available Introduction: Measels, Mumps and Rubella (MMR are highly contagious infectious diseases which may lead to severe complications. These diseases are vaccine-preventable. The present Health Technology Assessment report (report on technological consequences, HTA report was commissioned by the German Institute of Medical Documentation and Information (DIMDI and addresses various aspects of the MMR vaccination, the key question being how the MMR immunisation coverage rate can be increased in Germany. Objectives: The objectives of this report were to describe the benefits of the MMR vaccination for Germany and to analyse how the desired MMR immunisation coverage of >95% can be achieved. Methods: A systematic literature search was performed in 29 literature data bases. Particularly for epidemiological data and information on vaccination programs, this systematic search was supplemented by an extensive hand search, written and oral enquiries, as well as interviews with experts. A total of 200 texts were used to prepare this report. Results: At 92.5% (as of 2004 based on the whole of Germany, the current immunisation coverage for measles in children is above the weighted EC-15-average of 90.67%. Statements can only be made regarding the probability of illness for measles, as no data is available for mumps and rubella. With 2.8 infections (per 100,000 residents in 2006, Germany has not achieved the WHO target. Of cases submitted to the laboratory, only 32% were validated by diagnostic laboratory findings and 45% confirmed clinical-epidemiologically. There are only few economic analyses of vaccination programs in Germany. In international publications, mainly measels are validated economically. An analysis of the cost of measles for Germany shows potential cost savings. Unfortunately, no complete economic evaluation (cost-effectiveness, cost-benefit, or cost-utility analyses for MMR vaccination has been performed for Germany. Analyses conducted in the US

The Core Pattern Analysis on Chinese Herbal Medicine for Sjögren's syndrome: A Nationwide Population-Based Study

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Chang, Ching-Mao; Chu, Hsueh-Ting; Wei, Yau-Huei; Chen, Fang-Pey; Wang, Shengwen; Wu, Po-Chang; Yen, Hung-Rong; Chen, Tzeng-Ji; Chang, Hen-Hong

2015-01-01

This large-scale survey aimed to evaluate frequencies and patterns of Chinese herbal medicine (CHM) used for Sjögren's syndrome (SS) in Taiwan by analyzing the National Health Insurance Research Database (NHIRD) for cases in which CHM was used as an alternative therapy to Western medicine for improving patients' discomforts. We analyzed cases of SS principal diagnosis (ICD-9:710.2) with a catastrophic illness certificate (CIC) in traditional Chinese medicine (TCM) outpatient clinics from three cohorts of the Longitudinal Health Insurance Database (LHID) in the NHIRD between 2002 and 2011. CHM prescription patterns for SS were evaluated from claimed visitation files and corresponding prescription files. There were 15,914 SS patients with CIC (SS/CIC), and we found only 130 SS/CIC cases visiting TCM clinics in LHID2000, 133 in LHID2005, and 126 in LHID2010. After removing duplicate data, 366 SS/CIC and 4,867 visits were analyzed. The 50–59 year age group showed the highest ratio (29.51%) in both women and men. “Qi-Ju-Di-Huang-Wan” and “Xuan-Shen” (Scrophularia ningpoensis Hemsl.) was the most commonly used formula and single herb, respectively. “Qi-Ju-Di-Huang-Wan, Gan-Lu-Yin, Xuan-Shen, Mai-Men-Dong (Ophiopogon japonicus (L. f.) Ker-Gawl.), and Sheng-Di-Huang (raw Rehmannia glutinosa Libosch)” were the core pattern prescriptions in treating SS/CIC. PMID:25923413

Frequency of metabolic syndrome and the food intake patterns in adults living in a rural area of Brazil

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Karine Fedrigo Silva

2011-08-01

Full Text Available INTRODUCTION: Metabolic syndrome (MetS, a risk factor for atherosclerosis and coronary heart disease, is related to an inadequate food intake pattern. Its incidence is increasing among Brazilian adults, including those living in rural areas. Our aim was not only to describe the frequency of MetS in adults with or without MetS but also to compare their food intake pattern as assessed by the healthy eating index (HEI and serum albumin and C reactive protein (CRP levels. METHODS: Men and women (n = 246 living in a small village in Brazil were included. MetS was characterized according to the adult treatment panel (ATP III criteria. Groups were compared by chi-square, student t or Mann-Whitney tests. RESULTS: MetS was diagnosed in 15.4% of the cases. The MetS group showed higher CRP (1.8±1.2 vs. 1.0±0.9 mg/dl and lower albumin (4.3±0.3 vs. 4.4±0.3 g/dl serum levels compared to the control group. Additionally, the MetS group showed lower scores (median[range] in the HEI compared to the control group (53.5[31.2-78.1] vs 58[29.7-89.5], respectively. The MetS group also had decreased scores for total fat and daily variety of food intake. CONCLUSIONS: The results suggest that adults with MetS displayed chronic mild inflammation and a poorer food intake pattern than the control group.

Genetics Home Reference: Aarskog-Scott syndrome

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... A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. Evidence suggests that Aarskog-Scott syndrome is inherited in an autosomal dominant or autosomal recessive pattern in some families, although ...

Probed Serial Recall in Williams Syndrome: Lexical Influences on Phonological Short-Term Memory

Science.gov (United States)

Brock, Jan; McCormack, Teresa; Boucher, Jill

2005-01-01

Williams syndrome is a genetic disorder that, it has been claimed, results in an unusual pattern of linguistic strengths and weaknesses. The current study investigated the hypothesis that there is a reduced influence of lexical knowledge on phonological short-term memory in Williams syndrome. Fourteen children with Williams syndrome and 2…

/sup 99m/Tc-HIDA cholescintigraphy in Dubin-Johnson and Rotor syndromes

International Nuclear Information System (INIS)

Bar-Meir; Baron, J.; Seligson, U.; Gottesfeld, F.; Levy, R.; Gilat, T.

1982-01-01

/sup 99m/Tc-HIDA cholescintigraphy was performed in 6 patients with Dubin-Johnson syndrome and 1 patient with Rotor syndrome. In the patients with Dubin-Johnson syndrome, the cholescintigrams had a characteristic pattern of delayed visualization or nonvisualization of the gallbladder and bile ducts in the presence of intense, homogeneous, and prolonged visualization of the liver. In the patient with Rotor syndrome, the hepatobiliary system was not visualized at all. It is concluded that /sup 99m/Tc-HIDA cholescintigraphy may be helpful in the diagnosis of Dubin-Johnson syndrome and Rotor syndrome and in the differential diagnosis between these two conditions

Noonan syndrome and chylothorax

International Nuclear Information System (INIS)

Martinez-Leon, M. I.; Ceres-Ruiz, L.; Solbes-Vila, R.; Valls-Moreno, E.

2001-01-01

Chylothorax during childhood usually develops as a result of posto-perative complications following cardiothoracic surgery. It is rarely due to the malformations of the lymphatic system associated with dysmorphic syndrome. We report two cases of Noonan syndrome involving neonatal development of chylothorax. In children with the Noonan phenotype who develop pleural effusion during the neonatal period in the absence of obstetric trauma, it is advisable to rule out the presence of congenital lymphatic malformation and study the pleural effusion, initially introducing conservative treatment with dietary therapy. Chest radiography, ultrasound and computed tomography reveal the presence of the pleural effusion and parenchymal pattern compatible with chloroethoxy and lymphangiectasis. (Author) 15 refs

Waardenburg syndrome

OpenAIRE

Mehta, Manish; Kavadu, Paresh; Chougule, Sachin

2004-01-01

We report a case of Waardenburg syndrome in a female child aged 2yrs. Petrus Johannes Waardenburg(1) , a Dutch Ophthalmologist in 1951 described individuals with retinal pigmentary differences who had varying degrees of hearing loss and dystopia canthorum (i.e., latral displacement of inner canthi of eyes). The disease runs in families with a dominant inheritance pattern with varying degree of clinical presentation. Patient usually present with heterochromic iris, pigmentary abnormalities of ...

Research advances in traditional Chinese medicine syndromes in cancer patients.

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Ji, Qing; Luo, Yun-quan; Wang, Wen-hai; Liu, Xuan; Li, Qi; Su, Shi-bing

2016-01-01

Traditional Chinese medicine (TCM) syndrome, also known as TCM ZHENG or TCM pattern, is an integral and essential part of TCM theory that helps to guide the design of individualized treatments. A TCM syndrome, in essence, is a characteristic profile of all clinical manifestations in one patient that can be readily identified by a TCM practitioner. In this article, the authors reviewed the presentations of TCM syndromes in seven common malignancies (liver, lung, gastric, breast, colorectal, pancreatic and esophageal cancers), the objectivity and the standardization of TCM syndrome differentiation, the evaluation of TCM syndrome modeling in cancer research, and syndrome differentiation-guided TCM treatment of cancers. A better understanding of TCM syndrome theory, as well as its potential biological basis, may contribute greatly to the clinical TCM diagnosis and the treatment of cancer.

Metabolomic profiling reveals distinct patterns of tricarboxylic acid disorders in blood stasis syndrome associated with coronary heart disease.

Science.gov (United States)

Wang, Yong; Li, Chun; Chang, Hong; Lu, Ling-Hui; Qiu, Qi; Ouyang, Yu-Lin; Yu, Jun-da; Guo, Shu-Zhen; Han, Jing; Wang, Wei

2016-08-01

To investigate the underlying metabolomic profifiling of coronary heart disease (CHD) with blood stasis syndrome (BSS). CHD model was induced by a nameroid constrictor in Chinese miniature swine. Fifteen miniature swine were randomly divided into a model group (n=9) and a control group (n=6), respectively according to arandom number table. After 4 weeks, plasma hemorheology was detected by automatic hemorheological analyzer, indices including hematocrit, plasma viscosity, blood viscosity, rigidity index and erythrocyte sedimentation rate; cardiac function was assessed by echocardiograph to detect left ventricular end-systolic diameter (LVED), left ventricular end-diastolic diameter (LVEDd), ejection fraction (EF), fractional shortening (FS) and other indicators. Gas chromatography coupled with mass spectrometry (GC-MS) and bioinformatics were applied to analyze spectra of CHD plasma with BSS. The results of hemorheology analysis showed signifificant changes in viscosity, with low shear whole blood viscosity being lower and plasma viscosity higher in the model group compared with the control group. Moreover, whole blood reduction viscosity at high shear rate and whole blood reduction viscosity at low shear rate increased signifificantly (P patterns involved were associated with dysfunction of energy metabolism including glucose and lipid disorders, especially in glycolysis/gluconeogenesis, galactose metabolism and adenosine-triphosphate-binding cassette transporters. Glucose metabolism and lipid metabolism disorders were the major contributors to the syndrome classifification of CHD with BSS.

Pattern of steroid-resistant nephrotic syndrome in children and the ...

African Journals Online (AJOL)

Steroid-resistant nephrotic syndrome (SRNS) remains a challenge for paediatric nephrologists. e underlying histopathology usually affects the course of the disease and the response to treatment.[1] ere is still controversy over the role of renal biopsy in the management of children with. SRNS.[2] Studies by the International ...

Anthropometric characteristics and dietary pattern of women with polycystic ovary syndrome

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Afsane Ahmadi

2013-01-01

Full Text Available Objective: Polycystic ovary syndrome (PCOS is the most common endocrine disorder among women of reproductive age.PCOS is considered to be not only a reproductive endocrinopathy, but also a metabolic disorder.The objective of the present study was to characterize the anthropometric and dietary profile of women with PCOS and to compare it with that of healthy age-matched women. Design: In this case-control study, 65 women with PCOS served as cases. The control group consisted of 65 age-matched healthy women. For each participant, demographic, anthropometric and dietary intake data were gathered and compared between the two groups. Results: There was no significant difference between the mean of the body mass index of the two groups, but the mean of waist circumference was significantly higher in the PCOS group, than the control group ( P = 0.016. Compared to the normal weight PCOS patients, a significantly higher percentage of overweight patients had hirsutism ( P = 0.009. In dietary analysis, women with PCOS consumed more calories and more fat than healthy women ( P = 0.001 and P = 0.019, respectively. Conclusion: It is concluded that in PCOS patients, android obesity is a common feature and this abdominal adiposity may be related to the syndrome′s complications. PCOS symptoms were more severe in overweight patients than the normal weight. Regarding the dietary pattern, it was indicated that patients with PCOS consume more calories and more fat in their diets and this might have been correlated to their disease.

Inappropriate implantable cardioverter-defibrillator shocks in Brugada syndrome: Pattern in primary and secondary prevention

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Aimé Bonny

2017-01-01

Conclusion: Inappropriate shock is common in Brugada syndrome during the early periods after an ICD implantation, and seems to be more likely in asymptomatic patients. This finding may warrant a review of the indications for ICD implantation, especially in the young and apparently healthy population of patients with Brugada syndrome.

Mac Leod's syndrome

International Nuclear Information System (INIS)

Schad, M.; Danesi, C.; Ricci, R.; Galluzzi, S.; Coviello, G.

1988-01-01

Mac Leod's syndrome is a rarely diagnosed disease; that is why an accurate differential diagnosis is needed by means of radiological imaging. This paper is aimed at discussing the differential diagnosis, with a special emphasis on the pathogenesis of the syndrome. The phenomenon of air trapping in absence of central bronchial lesions is a typical radiographic finding. Chest X-ray is performed in both inspiration and expiration. Posterior oblique tomography at 55 grade centigrade of the effected side is also performed. Diffuse bronchiolitis obliterans in infancy or early childhood ia widely accepted pathogenetic pattern. Pulmonary hypoventilation causes vasoconstriction and underdevelopment of pulmonary vessels, that are reduced in caliber. Differential diagnosis includes all the diseases resulting in pulmonary hyperlucency, i.e. pulmonary and pleural alterations, and skeletal anomalies

[PHACES syndrome].

Science.gov (United States)

Morcillo Azcárate, J; Bernabeu-Wittel, J; Fernández-Pineda, I; Conejo-Mir, M D; Tuduri Limousin, I; Aspiazu Salinas, D A; de Agustín Asensio, J C

2010-04-01

PHACES syndrome associates a segmental facial hemangioma with cerebral malformations, aortic branches/cranial arteries anomalies, cardiac defects, eye anomalies or ventral wall defects. The aim of this study is to analyze our experience with this syndrome. Retrospective study of the cases seen at our unit in the last year. We treat 4 cases; 3 girls and 1 child. Besides the segmental hemangioma they presented: 3 vascular cerebral malformations; 2 structural cardiopathies; 2 cerebral malformations, 1 microftalmia. We did not find ventral wall defects. A case received treatment with two cycles of metilprednisolone i.v. and oral prednisone, with favourable course; two cases received initial treatment with oral prednisone continued of oral propanolol in rising pattern up to 2 mg/kg/day, Obtaining both the detention of the tumour growth and regression of the lesion, with very good tolerance. A 7-year-old patient has been treated with colouring pulse laser for her residual lesions. When we see a segmental facial hemangioma we must perform a wide diagnostic study in order to discard a PHACES syndrome. Multidisciplinar approach to the patient by a wide expert's group gets an earlier diagnose and improves the outcome. Propranolol is a promising therapeutic alternative.

Genetics Home Reference: Bernard-Soulier syndrome

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... Bernard-Soulier syndrome often have heavy or prolonged menstrual periods (menorrhagia). Related Information What does it mean ... in an autosomal recessive pattern , which means both copies of the GP1BA , GP1BB , or GP9 gene in ...

Age and Pattern of Intellectual Decline among Down Syndrome and Other Mentally Retarded Adults.

Science.gov (United States)

Gibson, David; And Others

1988-01-01

A study of 18 Down Syndrome and 18 other mentally retarded adults found evidence of a significant erosion of Wechsler Intelligence Scale for Children scores from the third to fourth decades of life. The Block Design subtest was especially vulnerable to performance decline with age in the Down Syndrome adults. (Author/JDD)

Anticorpos para os vírus da rubéola, do sarampo e da caxumba em crianças de São Paulo, Brasil Rubella, measles and mumps serum antibodies in children of S. Paulo, Brazil

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Renato Piza de Souza Carvalho

1976-12-01

Full Text Available Foram dosados anticorpos inibidores da hemaglutinação para o vírus da rubéola, do sarampo e da caxumba, em amostras de soro de 166 crianças de elevado nível sócio-econômico, com idade de 6 a 12 anos, que freqüentavam, em 1969, uma escola primária na cidade de São Paulo, Brasil. A per-centagem de soros positivos foi de 49,3% para a rubéola, 88,2% para o sarampo e 79,4% para a caxumba. Através de interrogatório junto aos pais, observou-se significativa correspondência entre antecedentes clínicos positivos para sarampo e caxumba e presença de anticorpos circulantes (95,3% e 91,7%, respectivamente. Houve grande discordância quando os antecedentes clínicos ou vacinais para sarampo e caxumba eram negativos: 51,8% e 61,4% destas crianças possuíam anticorpos circulantes. Quanto à rubéola, não foi possível fazer-se tal correlação, pois a maioria das mães não sabia dar informações sobre esta doença, no passado.One hundred and sixty high socio-economic level, 6-12 year old children, attending a primary school, were tested in 1969 for rubella, measles and mumps HI antibodies. A 49.3% positivity for rubella antibodies, 88.2% for measles and 79.4% for mumps were found. A good correlation was observed between a positive history of clinical disease in the past and detectable serum antibodies for measles and mumps (95.3% and 91.7%, respectively. Quite on the contrary was observed when the history of measles and mumps disease or immunization in the past were negative, as 51.8% and 61.4% of these children, respectively, presented antibodies. As regards rubella, no correlation was obtained as the great majority of the parents was unable to give information on this disease in the past.

Electrophysiolocal findings in Mohr-Tranebjærg syndrome

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Regina Halfeld Furtado de Mendonça

2015-04-01

Full Text Available Mohr-Tranebjærg syndrome (MTS is an X-liked recessive rare syndrome also known as deafness-dystonia syndrome. The severity of the symptoms may vary, but they progress usually to severe deafness and dystonia and sometimes they are accompanied by cortical deterioration of vision and mental deterioration. The purpose of this paper is to illustrate a very interesting case of Mohr-Tranebjærg syndrome. A 24-year-old italian man with Mohr-Tranebjærg syndrome underwent full field electroretinography (ERG and visual evoked potentials (VEPs. Fundus examination showed apparently normal retina with pallor of the optic disc. Pattern reversal VEP and flash VEP responses were non-recordable. ERG showed amplitude reduction of the fotopic, scotopic and 30 Hz flicker responses revealing generalized retinal dysfunction with reduction of cone and rod responses. The progressive neurodegeneration in Mohr-Tranebjærg syndrome can be also associated with a retinal degeneration.

A rare cause of tall stature: Sotos syndrome

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Nagehan Aslan

2014-12-01

Full Text Available Sotos syndrome is an excessive growth syndrome and is characterized by macrocephaly, typical facial appearance and mental retardation. The majority of cases are sporadic, autosomal dominant inheritance pattern matching families have been reported. Syndrome responsible for gen encodes the nuclear receptor-binding SET domain1 (NSD1 protein. This rare genetic syndrome firstly described by Sotos et al. in 1964 at five cases with excessive height, acromegalic appearance and mild mental retardation. Hairline high forehead, macrocephaly, frontal bossing, long and thin face, frontotemporal hair sparseness, down slanting palpebral fissures and prominent mandible creating characteristic facial appearance and advanced bone age and varying degrees of mental retardation are other diagnostic criteria. Cardiovascular, central nervous system and genitourinary system anomalies may be associated with syndrome. In this case report we presenting a case who admitted to our clinic because of the rapid growth and mild mental retardation and diagnosed with Sotos syndrome for emphasize the importance of growth monitoring.

Abdominoplasty in prune belly syndrome: Modifications in Monfort technique to address variable patterns of abdominal wall weakness.

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Smith, Edwin A; Srinivasan, Arun; Scherz, Hal C; Tracey, Anthony J; Broecker, Bruce; Kirsch, Andrew J

2017-10-01

Abdominoplasty is an important component of the management of children with prune belly syndrome (PBS). While there are features of the abdominal defect in PBS which are common to all patients, there will be differences unique to each patient that should be taken into consideration in surgical planning. Specifically, we have come to realize that although the Monfort procedure assumes a symmetric pattern of abdominal wall laxity, this symmetry is rarely present. The aim of this report is to describe our modifications and review our outcomes for the Monfort procedure which more completely address correction of the abdominal wall laxity including both common and uncommon features while positioning the umbilicus to a more anatomically correct position (Figure). Sixteen male patients with PBS and one female pseudoprune belly syndrome patient, aged 2-9 years, were treated at our institution between 2003 and 2014. Modifications incorporated into the abdominoplasty procedure for PBS applied to this study group included: 1) use of diagnostic laparoscopy to define the topography of the abdominal wall defect, 2) initial midline rather than elliptical skin incision to defer retailoring of the skin coverage until the final step of the procedure, 3) varying the width of the central plate to correct side to side asymmetry in redundancy, 4) plication of the central plate to reduce vertical redundancy and reposition the umbilicus, and 5) plication of focal areas of fascial weakness, most often in the flank region. All patients have improved abdominal wall contour with a more uniform correction of areas of weakness at a mean follow-up of 5.5 years (range 18 months-11.5 years). All patients and parents indicate that they are very satisfied with the outcome of their procedures without any revisions being performed. This study is descriptive in nature and retrospective, with the patient population treated in a relatively uniform fashion that does not allow direct comparison with other

What Are the Symptoms of Rett Syndrome?

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... any stage) can include: Loss of ability to grasp and intentionally touch things Loss of ability to ... Rett syndrome rely on feeding tubes.) Disrupted sleep patterns at night (during childhood) and increased sleep (after ...

Caroli's syndrome

Energy Technology Data Exchange (ETDEWEB)

Numan, F; Cokyueksel, O; Camuscu, S; Demir, K; Dueren, M

1986-07-01

In 1958 Caroli described the syndrome of congenital, either segmental or involving the entire bile duct system, saccular extensions of the intrahepatic bile ducts. He differentiated between two types of this disease pattern. The first form concerns pure cystic dilatations of the intrahepatic bile ducts, whereas the second one is combined with hepatic fibrosis and portal hypertension. Both types are characterised by cystic dilatations in the kidneys and in the extrahepatic bile ducts, pancreas and spleen.

Syndrome Differentiation Analysis on Mars500 Data of Traditional Chinese Medicine

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Yong-Zhi Li

2015-01-01

Full Text Available Mars500 study was a psychological and physiological isolation experiment conducted by Russia, the European Space Agency, and China, in preparation for an unspecified future manned spaceflight to the planet Mars. Its intention was to yield valuable psychological and medical data on the effects of the planned long-term deep space mission. In this paper, we present data mining methods to mine medical data collected from the crew consisting of six spaceman volunteers. The synthesis of the four diagnostic methods of TCM, inspection, listening, inquiry, and palpation, is used in our syndrome differentiation. We adopt statistics method to describe the syndrome factor regular pattern of spaceman volunteers. Hybrid optimization based multilabel (HOML is used as feature selection method and multilabel k-nearest neighbors (ML-KNN is applied. According to the syndrome factor statistical result, we find that qi deficiency is a base syndrome pattern throughout the entire experiment process and, at the same time, there are different associated syndromes such as liver depression, spleen deficiency, dampness stagnancy, and yin deficiency, due to differences of individual situation. With feature selection, we screen out ten key factors which are essential to syndrome differentiation in TCM. The average precision of multilabel classification model reaches 80%.

Lipoprotein subclass patterns in women with polycystic ovary syndrome (PCOS) compared with equally insulin-resistant women without PCOS.

LENUS (Irish Health Repository)

Phelan, N

2012-02-01

OBJECTIVES: Women with polycystic ovary syndrome (PCOS) are more insulin resistant and display an atherogenic lipid profile compared with normal women of similar body mass index (BMI). Insulin resistance (IR) at least partially underlies the dyslipidemia of PCOS, but it is unclear whether PCOS status per se confers additional risk. RESEARCH DESIGN AND METHODS: Using a case-control design, we compared plasma lipids and lipoprotein subclasses (using polyacrylamide gel tube electrophoresis) in 70 women with PCOS (National Institutes of Health criteria) and 70 normal women pair matched for age, BMI, and IR (homeostasis model assessment-IR, quantitative insulin sensitivity check index, and the Avignon Index). Subjects were identified as having a (less atherogenic) type A pattern consisting predominantly of large low-density lipoprotein (LDL) subfractions or a (more atherogenic) non-A pattern consisting predominantly of small-dense LDL subfractions. RESULTS: Total, high-density lipoprotein, or LDL cholesterol, or triacylglycerol did not differ between the groups, but very low-density lipoprotein levels (P<0.05) were greater in women with PCOS, whereas a non-A LDL profile was seen in 12.9% compared with 2.9% of controls (P<0.05, chi2). Multiple regression analysis revealed homeostasis model assessment-IR and waist circumference to be independent predictors of very low-density lipoprotein together explaining 40.2% of the overall variance. Logistic regression revealed PCOS status to be the only independent determinant of a non-A LDL pattern (odds ratio 5.48 (95% confidence interval 1.082-27.77; P<0.05). CONCLUSIONS: Compared with women matched for BMI and IR, women with PCOS have potentially important differences in lipid profile with greater very low-density lipoprotein levels and increased rates of a more atherogenic non-A LDL pattern.

Measles and rubella elimination: learning from polio eradication and moving forward with a diagonal approach.

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Goodson, James L; Alexander, James P; Linkins, Robert W; Orenstein, Walter A

2017-12-01

In 1988, an estimated 350,000 children were paralyzed by polio and 125 countries reported polio cases, the World Health Assembly passed a resolution to achieve polio eradication by 2000, and the Global Polio Eradication Initiative (GPEI) was established as a partnership focused on eradication. Today, following eradication efforts, polio cases have decreased >99% and eradication of all three types of wild polioviruses is approaching. However, since polio resources substantially support disease surveillance and other health programs, losing polio assets could reverse progress toward achieving Global Vaccine Action Plan goals. Areas covered: As the end of polio approaches and GPEI funds and capacity decrease, we document knowledge, experience, and lessons learned from 30 years of polio eradication. Expert commentary: Transitioning polio assets to measles and rubella (MR) elimination efforts would accelerate progress toward global vaccination coverage and equity. MR elimination feasibility and benefits have long been established. Focusing efforts on MR elimination after achieving polio eradication would make a permanent impact on reducing child mortality but should be done through a 'diagonal approach' of using measles disease transmission to identify areas possibly susceptible to other vaccine-preventable diseases and to strengthen the overall immunization and health systems to achieve disease-specific goals.

Event-Related Potential Patterns Associated with Hyperarousal in Gulf War Illness Syndrome Groups

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Tillman, Gail D.; Calley, Clifford S.; Green, Timothy A.; Buhl, Virginia I.; Biggs, Melanie M.; Spence, Jeffrey S.; Briggs, Richard W.; Haley, Robert W.; Hart, John; Kraut, Michael A.

2012-01-01

An exaggerated response to emotional stimuli is one of several symptoms widely reported by veterans of the 1991 Persian Gulf War. Many have attributed these symptoms to post-war stress; others have attributed the symptoms to deployment-related exposures and associated damage to cholinergic, dopaminergic, and white matter systems. We collected event-related potential (ERP) data from 20 veterans meeting Haley criteria for Gulf War Syndromes 1–3 and from 8 matched Gulf War veteran controls, who were deployed but not symptomatic, while they performed an auditory three-condition oddball task with gunshot and lion roar sounds as the distractor stimuli. Reports of hyperarousal from the ill veterans were significantly greater than those from the control veterans; different ERP profiles emerged to account for their hyperarousability. Syndromes 2 and 3, who have previously shown brainstem abnormalities, show significantly stronger auditory P1 amplitudes, purported to indicate compromised cholinergic inhibitory gating in the reticular activating system. Syndromes 1 and 2, who have previously shown basal ganglia dysfunction, show significantly weaker P3a response to distractor stimuli, purported to indicate dysfunction of the dopaminergic contribution to their ability to inhibit distraction by irrelevant stimuli. All three syndrome groups showed an attenuated P3b to target stimuli, which could be secondary to both cholinergic and dopaminergic contributions or disruption of white matter integrity. PMID:22691951

Genes and Syndromic Hearing Loss.

Science.gov (United States)

Keats, Bronya J. B.

2002-01-01

This article provides a description of the human genome and patterns of inheritance and discusses genes that are associated with some of the syndromes for which hearing loss is a common finding, including: Waardenburg, Stickler, Jervell and Lange-Neilsen, Usher, Alport, mitochondrial encephalomyopathy, and sensorineural hearing loss. (Contains…

Genetic investigation into ethnic disparity in polycystic ovarian syndrome

DEFF Research Database (Denmark)

Li, Shuxia; Zhu, Dongyi; Duan, Hongmei

2013-01-01

Polycystic ovarian syndrome is universally the most common endocrinopathy in women of reproductive age. It is characterized by composite clinical phenotypes reflecting the reproductive impact of ovarian dysfunction (androgen excess, oligo-/anovulation, polycystic ovary) and metabolic abnormalities...... more efficient strategies for treatment and prevention of polycystic ovarian syndrome....... to unravel the molecular basis of the interethnic difference in the pathogenesis of the syndrome. It is hoped that identification and characterization of population-specific structural genetic and functional genomic patterns could help to not only deepen our understanding of the aetiology but also develop...

Night eating syndrome and its association with weight status, physical activity, eating habits, smoking status, and sleep patterns among college students.

Science.gov (United States)

Yahia, Najat; Brown, Carrie; Potter, Stacey; Szymanski, Hailey; Smith, Karen; Pringle, Lindsay; Herman, Christine; Uribe, Manuela; Fu, Zhuxuan; Chung, Mei; Geliebter, Allan

2017-09-01

Night eating syndrome (NES) is characterized by evening hyperphagia and/or nocturnal ingestion. The main objective of this study was to assess the percentage of students complying with symptoms and behaviors consistent with the diagnostic criteria for NES, and explore its association with body mass index (BMI), dietary habits, physical activity, smoking status, and sleep patterns, among a sample of college students. A cross-sectional survey was conducted among a sample of 413 undergraduate students, mean age of 20.6 ± 1.68 SD, at Central Michigan University. Students completed an online survey including demographic information and the Night Eating Diagnostic Questionnaire (NEDQ) and Pittsburgh Sleep Quality Index Questionnaire (PSQI). Participants were grouped based on self-reporting of the presence and frequency of night eating-related symptoms and behaviors related to the diagnostic criteria for NES as follows: normal, mild night eater, moderate night eater, and full-syndrome night eater. Pearson's Chi-squared, Student's t test, and Wilcoxon rank-sum test were used to test the association between students with and without any night eating behavior in relation to BMI, lifestyle variables, and sleep duration/quality. Results showed that the proportion of students complying with symptoms and behaviors consistent with full-syndrome of NES was 1.2%. There were no significant differences between students complying with symptoms and behaviors consistent with any level of NES and those without any night eating behavior regarding BMI, eating habits, physical activity, and smoking status. NES was significantly related to sleep duration (P = 0.023). Students complying with symptoms consistent with any level of NES reported shorter sleep time and had higher total PSQI score (6.73 ± 4.06) than students without the syndrome (5.61 ± 2.61) (P = 0.007). Although the percentage of students complying with full-syndrome NES was relatively low in our student sample

Long-term memory for verbal and visual information in Down syndrome and Williams syndrome: performance on the Doors and People test.

Science.gov (United States)

Jarrold, Christopher; Baddeley, Alan D; Phillips, Caroline

2007-02-01

Previous studies have suggested that Williams syndrome and Down syndrome may be associated with specific short-term memory deficits. Individuals with Williams syndrome perform relatively poorly on tests of visuo-spatial short-term memory and individuals with Down syndrome show a relative deficit on verbal short-term memory tasks. However, these patterns of impairments may reflect the impact of generally impaired visuo-spatial processing skills in Williams syndrome, and verbal abilities in Down syndrome. The current study explored this possibility by assessing long-term memory among 15 individuals with Williams syndrome and 20 individuals with Down syndrome using the Doors and People test, a battery which assesses recall and recognition of verbal and visual information. Individuals' performance was standardised for age and level of intellectual ability with reference to that shown by a sample of 110 typically developing children. The results showed that individuals with Down syndrome have no differential deficits in long-term memory for verbal information, implying that verbal short-term memory deficits in this population are relatively selective. Instead both individuals with Down syndrome and with Williams syndrome showed some evidence of relatively poor performance on tests of long-term memory for visual information. It is therefore possible that visuo-spatial short-term memory deficits that have previously been demonstrated in Williams syndrome may be secondary to more general problems in visuo-spatial processing in this population.

Genetics Home Reference: Opitz G/BBB syndrome

Science.gov (United States)

... A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. Rarely, Opitz G/BBB syndrome is inherited in an autosomal dominant pattern , which means one copy of the altered ...

A case of Werner's syndrome associated with osteosarcoma.

Science.gov (United States)

Murata, K; Hatamochi, A; Shinkai, H; Ishikawa, Y; Kawaguchi, N; Goto, M

1999-10-01

We described a case of Werner's syndrome associated with osteosarcoma. A 37-year-old Japanese man was diagnosed as having Werner's syndrome by the presence of juvenile cataracts, skin sclerosis and hyperpigmentation of the feet, high-pitched voice, characteristic bird-like appearance of the face with beak-shaped nose, thinning of the entire skin and hyperkeratoses on soles, hyperlipemia, hyperuricemia, diabetes melitus, and the mutated responsible gene (WRN). He had a 3-month history of a tumor on his left forearm. Histologically, the tumor included four histological patterns; a malignant fibrous histiocytoma-like, a desmoid-like, a dermatofibrosarcoma protuberans-like, and a chondrosarcoma-like pattern. Tumoral osteoid formation was also found in the tumor. Therefore, the tumor was diagnosed as osteosarcoma.

Usher's syndrome--case report.

Science.gov (United States)

Kwiecień, Sława; Sulak, Robert; Szaflik, Jerzy

2008-01-01

The aim of this study is to present a case of coincidence of sensorineural hearing loss with chronic recurrent bilateral cystoid macular oedema in a 32-year-old woman, who was admitted to the clinic for deterioration of visual acuity of four months' duration. The patient gave a history of hearing loss for 29 years. Visual field examination disclosed peripheral ring scotoma. Electrophysiological examination was performed: pattern visual evoked response was within normal limits and electroretinogram displayed diminished both photopic and scotopic response. As ophthalmoscopy demonstrated no pigment in the fundus of the eye, the findings were consisted with diagnosis of retinitis pigmentosis sine pigmento. The presence of loss of hearing indicated the necessity of performing the genetic examination for Usher's syndrome. In order to establish a final diagnosis of Usher's syndrome genetic examination must be performed, but family history is relevant. Early investigation for Usher's syndrome in children with sensorineural hearing impairment is of a great significance. The patient may develop symptoms of retinitis pigmentosa in second or even third decade of his life. The necessity of thorough investigation for detecting other systemic abnormalities should be emphasized. There is no effective treatment of this syndrome. A child with Usher's syndrome requires a comprehensive care of different medical specialties. Psychological, educational and sociological attitude is also of a great importance in the child development.

Specifics of mental disorders of patients with metabolic syndrome

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K. I. Kleban

2017-09-01

Full Text Available In the general-somatic network there is a steady increase in the number of patients with psychosomatic disorders. Problems of providing adequate psychiatric and psychotherapeutic assistance to this category of patients are related to the motivation of patients to participate in psychological measures and the readiness of the medical system to provide comprehensive care on the basis of the biopsychosocial approach. Mental factors are involved both in the occurrence and course of a metabolic syndrome in the form of a patient's lifestyle and behavior patterns of healthy functioning, and is a consequence of somatic pathology. Mental factors are involved both in the occurrence and course of a metabolic syndrome in the form of a patient's lifestyle and behavior patterns of healthy functioning, and is a consequence of somatic pathology. So mental disorders of metabolic syndrome are manifested in the form of psychosocial maladaptation, neurotic, affective, personality, and organic disorders. Desynchronosis which is a factor of the development of a metabolic syndrome and characterizes the complex chronobiological component of the regulation of psychophysiological functions in norm and under the influence of stress, deserves special attention. Addressing the diagnosis of mental disorders associated with metabolic syndrome is precisely aimed at determining chronobiological disorders of psychosomatic integrated areas and is supposed to improve diagnostic and treatment process and to shorten the treatment of these disorders.

Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome.

Science.gov (United States)

Woods, C G; Stricker, S; Seemann, P; Stern, R; Cox, J; Sherridan, E; Roberts, E; Springell, K; Scott, S; Karbani, G; Sharif, S M; Toomes, C; Bond, J; Kumar, D; Al-Gazali, L; Mundlos, S

2006-08-01

Fuhrmann syndrome and the Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome are considered to be distinct limb-malformation disorders characterized by various degrees of limb aplasia/hypoplasia and joint dysplasia in humans. In families with these syndromes, we found homozygous missense mutations in the dorsoventral-patterning gene WNT7A and confirmed their functional significance in retroviral-mediated transfection of chicken mesenchyme cell cultures and developing limbs. The results suggest that a partial loss of WNT7A function causes Fuhrmann syndrome (and a phenotype similar to mouse Wnt7a knockout), whereas the more-severe limb truncation phenotypes observed in Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome result from null mutations (and cause a phenotype similar to mouse Shh knockout). These findings illustrate the specific and conserved importance of WNT7A in multiple aspects of vertebrate limb development.

Unmasking of Brugada syndrome by lithium

NARCIS (Netherlands)

Darbar, Dawood; Yang, Tao; Churchwell, Keith; Wilde, Arthur A. M.; Roden, Dan M.

2005-01-01

Background - The characteristic ECG pattern of ST- segment elevation in V-1 and V-2 in the Brugada syndrome is dynamic; it is often intermittently present in affected individuals and can be unmasked by sodium channel blockers, including antiarrhythmic drugs and tricyclic antidepressants. We report

[Waardenburg syndrome--ophthalmic findings and criteria for diagnosis: case reports].

Science.gov (United States)

Nasser, Luciano Sólia; Paranaíba, Lívia Maris Ribeiro; Frota, Ana Cláudia; Gomes, Andreia; Versiani, Gisele; Martelli Júnior, Hercílio

2012-10-01

To describe the clinical and imaginological features of two families with Waardenburg syndrome: type I and II, with emphasis on ophthalmic manifestations, as well as the pattern of genetic inheritance. We conducted a clinical study involving two families affected by Waardenburg syndrome, and through the pedigree, determined the present pattern of genetic inheritance. Analyses were performed including the measurement of visual acuity, the presence of dystopia cantorum (telecanthus), evaluation of iris color and retinal mapping, as well as dermatological and otological examinations. The pedigree of the family affected by the Waardenburg syndrome type I showed an autosomal dominant mode of transmission. The syndrome was present at 85.71% of patients. The dystopia cantorum was the most frequent feature, followed by the white streak on the skin of the forehead, hypopigmentation of the iris and retina and deafness. The Waardenburg syndrome family type II had 33.33% of family members affected by the syndrome. No member had dystopia cantorum and hypopigmentation of the iris. Three patients had sensorineural hearing loss (12.5%), associated with white forelock and achromatic spots confluent by the body. This study shows the importance of the ophthalmologist in aiding the diagnosis of this rare genetic condition, since it includes ocular disorders such as telecanthus, hypopigmentation of the iris and retina. The cantorum dystopia is the main diagnostic criterion to differentiate type I and II syndrome and should be done by a trained ophthalmologist. The families are in medical monitoring, receiving genetic guidelines and care related to eye protection.

A case report of burning mouth syndrome: A diagnostic dilemma

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Ghassan M Al-Iryani

2016-01-01

Full Text Available Oral dysaesthesia syndrome called burning mouth syndrome (BMS causes chronic pain in the orofacial region without presence of any of the detectable organic causes. Common features of BMS are burning sensation in the mouth, xerostomia, dysgeusia, etc. These symptoms ideally show a diurnal pattern, were they are less in the morning and worsen as the day progresses and classically subside at the night time. BMS have multifactorial etiology. This report describes a case of burning mouth syndrome in a 60 year old female patient.

Refeeding syndrome or refeeding hypophosphatemia: a systematic review of cases.

Science.gov (United States)

Skipper, Annalynn

2012-02-01

Nutrition support clinicians refer to the abnormalities in laboratory data and changes in clinical signs and symptoms that follow refeeding of starved or malnourished patients as refeeding syndrome. Theoretical descriptions of refeeding syndrome include a complex and extensive list of changes, such as hypophosphatemia, hypomagnesemia, hypokalemia, hyponatremia, hypocalcemia, hyperglycemia, and vitamin deficiency--all of which are accompanied by clinical signs and symptoms. In practice, clinicians see asymptomatic refeeding hypophosphatemia more often than a full-blown syndrome with multiple laboratory and clinical abnormalities. Confusion results because there is no widely accepted or uniformly applied set of defining characteristics for diagnosing refeeding syndrome. To gain insight into the clinical characteristics of refeeding syndrome described in the literature, a systematic review of reported cases and case series was conducted. Since 2000, 20 authors described 27 cases that contained sufficient data for review. Hypophosphatemia occurred in 26 patients (96%). While 19 patients (71%) experienced at least 1 other laboratory abnormality, only 14 (51%) exhibited a consistent pattern of abnormally low phosphorus and magnesium levels. Seven patients had hypocalcemia (26%), and hyponatremia was reported in 3 patients (11%). There were no reports of hyperglycemia. Mean data reported in case series containing data from 63 patients showed that hypophosphatemia was a consistent finding but that other abnormalities were not consistently identified. Findings suggest that refeeding hypophosphatemia is not accompanied by a consistent pattern of biochemical or clinical abnormalities among case reports or case series of patients reported to have refeeding syndrome.

A novel homozygous variant in the SMOC1 gene underlying Waardenburg anophthalmia syndrome.

Science.gov (United States)

Ullah, Asmat; Umair, Muhammad; Ahmad, Farooq; Muhammad, Dost; Basit, Sulman; Ahmad, Wasim

2017-01-01

Waardenburg anophthalmia syndrome (WAS), also known as ophthalmo-acromelic syndrome or anophthalmia-syndactyly, is a rare congenital disorder that segregates in an autosomal recessive pattern. Clinical features of the syndrome include malformation of the eyes and the skeleton. Mostly, WAS is caused by mutations in the SMOC-1 gene. The present report describes a large consanguineous family of Pakistani origin segregating Waardenburg anophthalmia syndrome in an autosomal recessive pattern. Genotyping followed by Sanger sequencing was performed to search for a candidate gene. SNP genotyping using AffymetrixGeneChip Human Mapping 250K Nsp array established a single homozygous region among affected members on chromosome 14q23.1-q24.3 harboring the SMOC1 gene. Sequencing of the gene revealed a novel homozygous missense mutation (c.812G>A; p.Cys271Tyr) in the family. This is the first report of Waardenburg anophthalmia syndrome caused by a SMOC1 variant in a Pakistani population. The mutation identified in the present investigation extends the body of evidence implicating the gene SMOC-1 in causing WAS.

A heart-hand syndrome gene: Tfap2b plays a critical role in the development and remodeling of mouse ductus arteriosus and limb patterning.

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Feng Zhao

Full Text Available BACKGROUND: Patent ductus arteriosus (PDA is one of the most common forms of congenital heart disease. Mutations in transcription factor TFAP2B cause Char syndrome, a human disorder characterized by PDA, facial dysmorphysm and hand anomalies. Animal research data are needed to understand the mechanisms. The aim of our study was to elucidate the pathogenesis of Char syndrome at the molecular level. METHODOLOGY/PRINCIPAL FINDINGS: Gene expression of Tfap2b during mouse development was studied, and newborns of Tfap2b-deficient mice were examined to identify phenotypes. Gel shift assays had been carried out to search for Tfap2 downstream genes. Promoters of candidate genes were cloned into a reporter construct and used to demonstrate their regulation by Tfap2b in cell transfection. In situ hybridizations showed that the murine transcription factor Tfap2b was expressed during the entire development of mouse ductus arteriosus. Histological examination of ductus arteriosus from Tfap2b knockout mice 6 hours after birth revealed that they were not closed. Consequently, the lungs of Tfap2b(-/- mice demonstrated progressive congestion of the pulmonary capillaries, which was postulated to result secondarily from PDA. In addition, Tfap2b was expressed in the limb buds, particularly in the posterior limb field during development. Lack of Tfap2b resulted in bilateral postaxial accessory digits. Further study indicated that expressions of bone morphogenetic protein (Bmp genes, which are reported to be involved in the limb patterning and ductal development, were altered in limb buds of Tfap2b-deficient embryos, due to direct control of Bmp2 and Bmp4 promoter activity by Tfap2b. CONCLUSIONS/SIGNIFICANCE: Tfap2b plays important roles in the development of mouse ductus arteriosus and limb patterning. Loss of Tfap2b results in altered Bmp expression that may cause the heart-limb defects observed in Tfap2b mouse mutants and Char syndrome patients. The Tfap2b knockout

THE "FORTUNATA SYNDROME": A FORM OF EMOTIONAL DEPENDENCY

OpenAIRE

Jorge Barraca Mairal

2015-01-01

This paper presents information about a form of emotional dependency, for which the term "Fortunata syndrome" has been coined, designating a type of affective relationship that some women develop repeatedly with married men. Several patterns of behaviour and repeated attitudes can be identified in this syndrome, such us the strong and lasting emotional dependency and loyalty to the man, the ambivalence of feelings towards the official partner (resentment due to the belief that she has t...

Genetics of syndromic and non-syndromic mitral valve prolapse.

Science.gov (United States)

Le Tourneau, Thierry; Mérot, Jean; Rimbert, Antoine; Le Scouarnec, Solena; Probst, Vincent; Le Marec, Hervé; Levine, Robert A; Schott, Jean-Jacques

2018-01-19

Mitral valve prolapse (MVP) is a common condition that affects 2%-3% of the general population. MVP is thought to include syndromic forms such as Marfan syndrome and non-syndromic MVP, which is the most frequent form. Myxomatous degeneration and fibroelastic deficiency (FED) are regarded as two different forms of non-syndromic MVP. While FED is still considered a degenerative disease associated with ageing, frequent familial clustering has been demonstrated for myxomatous MVP. Familial and genetic studies led to the recognition of reduced penetrance and large phenotypic variability, and to the identification of prodromal or atypical forms as a part of the complex spectrum of the disease. Whereas autosomal dominant mode is the common inheritance pattern, an X linked form of non-syndromic MVP was recognised initially, related to Filamin-A gene, encoding for a cytoskeleton protein involved in mechanotransduction. This identification allowed a comprehensive description of a new subtype of MVP with a unique association of leaflet prolapse and paradoxical restricted motion in diastole. In autosomal dominant forms, three loci have been mapped to chromosomes 16p11-p12, 11p15.4 and 13q31-32. Although deciphering the underlying genetic defects is still a work in progress, DCHS1 mutations have been identified (11p15.4) in typical myxomatous disease, highlighting new molecular pathways and pathophysiological mechanisms leading to the development of MVP. Finally, a large international genome-wide association study demonstrated the implication of frequent variants in MVP development and opened new directions for future research. Hence, this review focuses on phenotypic, genetic and pathophysiological aspects of MVP. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

IRF6 mutation screening in non-syndromic orofacial clefting

DEFF Research Database (Denmark)

Leslie, Elizabeth J; Koboldt, Daniel C; Kang, C. J.

2016-01-01

-syndromic OFCs. About 70% of causal VWS mutations occur in IRF6, a gene that is also associated with non-syndromic OFCs. Screening for IRF6 mutations in apparently non-syndromic cases has been performed in several modestly sized cohorts with mixed results. In this study, we screened 1521 trios with presumed non......-syndromic OFCs to determine the frequency of causal IRF6 mutations. We identified seven likely causal IRF6 mutations, although a posteriori review identified two misdiagnosed VWS families based on the presence of lip pits. We found no evidence for association between rare IRF6 polymorphisms and non......-syndromic OFCs. We combined our results with other similar studies (totaling 2472 families) and conclude that causal IRF6 mutations are found in 0.24–0.44% of apparently non-syndromic OFC families. We suggest that clinical mutation screening for IRF6 be considered for certain family patterns such as families...

Diagnosis of Equipment Failures by Pattern Recognition

DEFF Research Database (Denmark)

Pau, L. F.

1974-01-01

The main problems in relation to automatic fault finding and diagnosis in equipments or production systems are discussed: 1) compression of the syndrome and observation spaces for better discrimination between failure modes; 2) simultaneous display of the failure patterns and the failure instants...

Clinical Study of the Relationship between Eczema TCM Syndrome Types and TCM constitution

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Weian Mao

2015-04-01

Full Text Available Objective To investigate the relationship between Eczema TCM syndrome types and TCM constitutional. Methods 100 cases of eczema were randomly selected and numbered, then sum up the results of report after using DSO1- A system that collect lingual, facial and sphygmic to identify the types of TCM constitution. Finally, the results were analyzed. Results The results show that the nine types of moderate physical quality account for 58.3% of spreading damp-heat pattern , Phlegm-dampness constitution 25.7% of the pattern of spleen vacuity with damp-heat, and yin deficiency 32.1% of the pattern of blood vacuity and wind-dryness. Conclusion There was a correlation between Eczema TCM syndrome types and TCM constitutional. Spreading damp-heat pattern was associated with moderate physical quality. The pattern of spleen vacuity with damp-heat was connected to Phlegm-dampness constitution. The pattern of blood vacuity and wind-dryness had relation with yin deficiency.

Natural course of visual field loss in patients with Type 2 Usher syndrome.

Science.gov (United States)

Fishman, Gerald A; Bozbeyoglu, Simge; Massof, Robert W; Kimberling, William

2007-06-01

To evaluate the natural course of visual field loss in patients with Type 2 Usher syndrome and different patterns of visual field loss. Fifty-eight patients with Type 2 Usher syndrome who had at least three visual field measurements during a period of at least 3 years were studied. Kinetic visual fields measured on a standard calibrated Goldmann perimeter with II4e and V4e targets were analyzed. The visual field areas in both eyes were determined by planimetry with the use of a digitalizing tablet and computer software and expressed in square inches. The data for each visual field area measurement were transformed to a natural log unit. Using a mixed model regression analysis, values for the half-life of field loss (time during which half of the remaining field area is lost) were estimated. Three different patterns of visual field loss were identified, and the half-life time for each pattern of loss was calculated. Of the 58 patients, 11 were classified as having pattern type I, 12 with pattern type II, and 14 with pattern type III. Of 21 patients whose visual field loss was so advanced that they could not be classified, 15 showed only a small residual central field (Group A) and 6 showed a residual central field with a peripheral island (Group B). The average half-life times varied between 3.85 and 7.37 for the II4e test target and 4.59 to 6.42 for the V4e target. There was no statistically significant difference in the half-life times between the various patterns of field loss or for the test targets. The average half-life times for visual field loss in patients with Usher syndrome Type 2 were statistically similar among those patients with different patterns of visual field loss. These findings will be useful for counseling patients with Type 2 Usher syndrome as to their prognosis for anticipated visual field loss.

3-M syndrome: description of six new patients with review of the literature.

NARCIS (Netherlands)

Wal, G. van der; Otten, B.J.; Brunner, H.G.; Burgt, C.J.A.M. van der

2001-01-01

3-M syndrome combines pre- and postnatal growth retardation and dysmorphic facial features with autosomal recessive inheritance. Six new patients with 3-M syndrome are described and compared with 28 cases from the literature. Our six patients have a growth pattern, which parallels that of

Patient with confirmed LEOPARD syndrome developing multiple melanoma.

Science.gov (United States)

Colmant, Caroline; Franck, Deborah; Marot, Liliane; Matthijs, Gert; Sznajer, Yves; Blomme, Sandrine; Tromme, Isabelle

2018-01-01

LEOPARD syndrome, also known as Gorlin syndrome II, cardiocutaneous syndrome, lentiginosis profusa syndrome, Moynahan syndrome, was more recently coined as Noonan syndrome with multiple lentigines (NSML), inside the RASopathies. Historically, the acronym LEOPARD refers to the presence of distinctive clinical features such as: lentigines (L), electrocardiographic/conduction abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), genital abnormalities (A), retardation of growth (R), and sensorineural deafness (D). This condition is identified in 85% of patients with phenotype hallmarks caused by presence a germline point mutation in PTPN11 gene. Association of melanoma to NSML seems to be rare: to our knowledge, two patients so far were reported in the literature. We herein present a patient diagnosed with LEOPARD syndrome, in whom molecular investigation confirmed the presence of the c.1403C>T mutation in exon 12 of the PTPN11 gene, who developed four superficial spreading melanomas and three atypical lentiginous hyperplasias. Three of the melanomas were achromic or hypochromic, three were in situ, and one had a Breslow index under 0.5 mm. Dermoscopic examination showed some characteristic white structures in most of the lesions, which were a signature pattern and a key for the diagnosis.

Trichorhinophalangeal syndrome

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Tuzovic, S.; Fiebach, B.J.O.; Magnus, L.; Sauerbrei, H.U.

1982-11-01

This article reports on 14 cases of a trichorhinophalangeal syndrome in five successive generations. Besides the well-known characteristics of the TRPS the following symptoms observed in this family are new: Teething was considerably delayed, intelligence was reduced, and there were skin manifestations resembling eczema. Besides, struma colli and colitis ulcerosa were also observed. Subsequent observations have to clarify whether these symptoms are a facultative part of the TRPS pattern. The constant appearance of carriers of these characteristics during five generation points to dominant heredity.

Congenital nephrotic syndrome. Gallium-67 imaging

International Nuclear Information System (INIS)

Trepashko, D.W.; Gelfand, M.J.; Pan, C.C.

1988-01-01

Congenital nephrotic syndrome is a rare disorder. Heavy proteinuria, hypoalbuminemia, and edema occur during the first 3 months of life. Initial cases were reported from Finland and sporadic cases have occurred elsewhere. Finnish cases demonstrated an autosomal recessive inheritance pattern; currently, Finnish and non-Finnish types are recognized. The clinical course consists of failure to thrive, frequent infections, declining renal function, and early death by age 4 years from sepsis or uremia. Recently renal transplantation has improved the prognosis of patients with this disease. An abnormal Ga-67 scan in a case of congenital nephrotic syndrome is presented

Hamman-Rich syndrome in a goldsmith

International Nuclear Information System (INIS)

Kirchner, J.; Stein, A.; Jacobi, V.; Viel, K.

1997-01-01

We report the case of a 54-year-old goldsmith admitted because of dyspnea on exertion, persistent cough, and weakness under the suspicion of exogenous allergic alveolitis. He rapidly developed progressive lung fibrosis with exitus letalis 7 weeks after admission. Radiological examination (chest X-ray and HRCT) first showed ground glass opacities, and later rapid development of severe interstitial pattern with architectural distraction. The findings were similar to idiopathic lung fibrosis; however, the rare Hamman-Rich syndrome was confirmed by progressive course of the disease. Correlations between Hamann-Rich syndrome and idiopathic lung fibrosis are discussed. (orig.) [de

Aicardi's syndrome: (agenesis of the corpus callosum, infantile spasms, and ocular anomalies).

Science.gov (United States)

Dinani, S; Jancar, J

1984-06-01

A case of Aicardi's syndrome is reported. A 12-year-old mentally handicapped female has all the characteristics of the syndrome: agenesis of the Corpus callosum; female infant with mental handicap, epilepsy, characteristic eye lesions, vertebral anomalies and abnormal EEG pattern. The results of supporting examination and investigations are noted.

Survey of Ophthalmologists Regarding Practice Patterns for Dry Eye and Sjogren Syndrome.

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Bunya, Vatinee Y; Fernandez, Karen B; Ying, Gui-Shuang; Massaro-Giordano, Mina; Macchi, Ilaria; Sulewski, Michael E; Hammersmith, Kristin M; Nagra, Parveen K; Rapuano, Christopher J; Orlin, Stephen E

2018-01-15

To survey ophthalmologists about current practice patterns regarding the evaluation of dry eye patients and referrals for a Sjogren syndrome (SS) workup. An online survey was sent to ophthalmologists affiliated with the Scheie Eye Institute or Wills Eye Hospital using REDCap in August 2015. Descriptive statistics were used to summarize the data. Four hundred seventy-four survey invitations were sent out and 101 (21%) ophthalmologists completed the survey. The common traditional dry eye test performed was corneal fluorescein staining (62%) and the most common newer dry eye test performed was tear osmolarity (18%). Half of respondents (51%) refer fewer than 5% of their dry eye patients for SS workups, with 18% reporting that they never refer any patients. The most common reasons for referrals included positive review of systems (60%), severe dry eye symptoms (51%) or ocular signs (47%), or dry eye that is refractory to treatment (42%). The majority (83%) felt that there is a need for an evidence-based standardized screening tool for dry eye patients to decide who should be referred for evaluation for SS. Ophthalmologists continue to prefer the use of traditional dry eye tests in practice, with the most common test being corneal fluorescein staining. There is an underreferral of dry eye patients for SS workups, which is contributing to the continued underdiagnosis of the disease. Most respondents felt that there was a need for an evidence-based standardized screening tool to decide which dry eye patients should be referred for SS evaluations.

Soroprevalência da rubéola na população urbana e rural de Guaratinguetá Seroprevalence of rubella in urban and rural populations, Guaratinguetá

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Cristina A. Figueiredo

2009-01-01

Full Text Available OBJETIVO: Determinar a prevalência de anticorpos para a rubéola na população de 15 a 39 anos no município de Guaratinguetá, São Paulo, SP. MÉTODOS: Neste estudo, 996 amostras foram colhidas após consentimento informado e esclarecido entre homens e mulheres na faixa etária de 15 a 39 anos. Os anticorpos da classe IgG foram detectados por ELISA usando kit comercial Rubenostika IgGII (Organon Teknika AS, Holland. As faixas etárias foram estratificadas em três categorias: 15-19 anos; 20-29 anos e 30-39 anos. As análises estatísticas foram realizadas pelo software MINITAB versão 14.0 (Minitab Inc, EUA. RESULTADOS: A proporção de soros reagentes para anticorpos da classe IgG nas faixas etárias estudadas foram: 92,7% positivos de 15-19 anos; 82,4% de 20 a 29 anos e 90,7% de 30-39 anos com diferença significativa na proporção de soropositivos pela faixa etária ( p OBJECTIVE: To investigate seroprevalence of rubella antibodies in a 15 to 39 year old population in the municipal district of Guaratinguetá. METHODS: The 996 samples studied were collected in urban and rural zones, after informed and elucidated consent from men and women stratified by age (15 -39 years. Rubella IgG antibodies were detected by ELISA using the commercial kit Rubenostika IgGII (Organon Teknika THE, Holland. Age groups were stratified in 3 categories: 15-19; 20-29 and 30-39 years of age. Statistical analyses were accomplished with the software MINITAB version 14.0 (Minitab Inc, USA. RESULTS: The proportion of seropositives for antibodies of the IgG class were: 92.7.% positive for 15-19 years; 82.4% for 20 to 29 years and 90.7% for 30-39 years, with a significant difference in the seropositive proportions by age group (p <0.001. Variation of intensity of antibody response was calculated and results show a significant difference (p = 0.002 between means of the 3 age groups studied. In relation to rural and urban zone average of the ratio DO/CO for each age

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

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Johnston, Jennifer J; van der Smagt, Jasper J; Rosenfeld, Jill A; Pagnamenta, Alistair T; Alswaid, Abdulrahman; Baker, Eva H; Blair, Edward; Borck, Guntram; Brinkmann, Julia; Craigen, William; Dung, Vu Chi; Emrick, Lisa; Everman, David B; van Gassen, Koen L; Gulsuner, Suleyman; Harr, Margaret H; Jain, Mahim; Kuechler, Alma; Leppig, Kathleen A; McDonald-McGinn, Donna M; Can, Ngoc Thi Bich; Peleg, Amir; Roeder, Elizabeth R; Rogers, R Curtis; Sagi-Dain, Lena; Sapp, Julie C; Schäffer, Alejandro A; Schanze, Denny; Stewart, Helen; Taylor, Jenny C; Verbeek, Nienke E; Walkiewicz, Magdalena A; Zackai, Elaine H; Zweier, Christiane; Zenker, Martin; Lee, Brendan; Biesecker, Leslie G

2018-02-22

PurposeTo characterize the molecular genetics of autosomal recessive Noonan syndrome.MethodsFamilies underwent phenotyping for features of Noonan syndrome in children and their parents. Two multiplex families underwent linkage analysis. Exome, genome, or multigene panel sequencing was used to identify variants. The molecular consequences of observed splice variants were evaluated by reverse-transcription polymerase chain reaction.ResultsTwelve families with a total of 23 affected children with features of Noonan syndrome were evaluated. The phenotypic range included mildly affected patients, but it was lethal in some, with cardiac disease and leukemia. All of the parents were unaffected. Linkage analysis using a recessive model supported a candidate region in chromosome 22q11, which includes LZTR1, previously shown to harbor mutations in patients with Noonan syndrome inherited in a dominant pattern. Sequencing analyses of 21 live-born patients and a stillbirth identified biallelic pathogenic variants in LZTR1, including putative loss-of-function, missense, and canonical and noncanonical splicing variants in the affected children, with heterozygous, clinically unaffected parents and heterozygous or normal genotypes in unaffected siblings.ConclusionThese clinical and genetic data confirm the existence of a form of Noonan syndrome that is inherited in an autosomal recessive pattern and identify biallelic mutations in LZTR1.Genet Med advance online publication, 22 February 2018; doi:10.1038/gim.2017.249.

[Science of Meridians, Collaterals and Acupoints--Exploration on teaching method of meridian syndromes].

Science.gov (United States)

Wang, Yinping; Zhang, Zongquan; Wang, Wenlin; Yuan, Limin

2015-04-01

Meridian syndromes are the required basic knowledge for mastering Science of Meridians, Collaterals and Acupoints but have not brought the adequate attention on the teaching program. The writers discovered' that the content of this section occupied a decisive role for developing the students' clinical thinking ability and, stimulating their interests to learn classical TCM theories. It's necessary to enhance the importance on meridian syndromes during teaching program. The teaching program was discussed in three aspects, named workshop pattern, competitive pattern and multimedia pattern. This teaching method may improve students' interests in the study on classical TCM theories, deepen the understanding on knowledge and motivate students' learning autonomy so that the teaching quality can be improved.

Safety and Immunogenicity of Coadministering a Combined Meningococcal Serogroup C and Haemophilus influenzae Type b Conjugate Vaccine with 7-Valent Pneumococcal Conjugate Vaccine and Measles, Mumps, and Rubella Vaccine at 12 Months of Age ▿

OpenAIRE

Miller, Elizabeth; Andrews, Nick; Waight, Pauline; Findlow, Helen; Ashton, Lindsey; England, Anna; Stanford, Elaine; Matheson, Mary; Southern, Joanna; Sheasby, Elizabeth; Goldblatt, David; Borrow, Ray

2010-01-01

The coadministration of the combined meningococcal serogroup C conjugate (MCC)/Haemophilus influenzae type b (Hib) vaccine with pneumococcal conjugate vaccine (PCV7) and measles, mumps, and rubella (MMR) vaccine at 12 months of age was investigated to assess the safety and immunogenicity of this regimen compared with separate administration of the conjugate vaccines. Children were randomized to receive MCC/Hib vaccine alone followed 1 month later by PCV7 with MMR vaccine or to receive all thr...

Treatment Approaches in Down's Syndrome: A Review.

Science.gov (United States)

Foreman, Philip J.; Ward, James

1986-01-01

The paper reviews research into treatment approaches in Down's Syndrome. Pharmacological treatments reviewed include thyroid therapy, 5-hydroxytryptophan, vitamin therapy, and cell therapy. Other treatments considered are movement patterning, early intervention, and facial surgery. Early educational intervention is seen as the most effective…

Early repolarisation and J wave syndromes

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Kamal K. Sethi

2014-07-01

Full Text Available J wave syndrome has emerged as a significant cause of Idiopathic ventricular fibrillation (IVF responsible for sudden cardiac death. A large body of data is now available on genesis, genetics and ionic mechanisms of J wave syndromes. Two of these viz., Early repolarization syndrome (ER and Brugada syndrome (BrS are fairly well characterized enabling correct diagnosis in most patients. The first part of repolarization of ventricular myocardium is governed by Ito current i.e., rapid outward potassium current. The proposed mechanism of ventricular fibrillation (VF and ventricular tachycardia (VT storms is the faster Ito current in the epicardium than in the endocardium results in electrical gradient that forms the substrate for phase 2 reentry. Prevention of Ito current with quinidine supports this mechanism. Majority of ER patterns in young patients are benign. The key issue is to identify those at increased risk of sudden cardiac death. Association of both ER syndrome and Brugada syndrome with other disease states like coronary artery disease has also been reported. Individuals resuscitated from VF definitely need an implantable cardiac defibrillator (ICD but in others there is no consensus regarding therapy. Role of electrophysiology study to provoke ventricular tachycardia or fibrillation is not yet well defined. Radiofrequency ablation of epicardial substrate in right ventricle in Brugada syndrome is also under critical evaluation. In this review we shall discuss historical features, epidemiology, electrocardiographic features, ionic pathogenesis, clinical features and current status of proposed treatment of ER and BrS.

Identification of Chinese medicine syndromes in persistent insomnia associated with major depressive disorder: a latent tree analysis.

Science.gov (United States)

Yeung, Wing-Fai; Chung, Ka-Fai; Zhang, Nevin Lian-Wen; Zhang, Shi Ping; Yung, Kam-Ping; Chen, Pei-Xian; Ho, Yan-Yee

2016-01-01

Chinese medicine (CM) syndrome (zheng) differentiation is based on the co-occurrence of CM manifestation profiles, such as signs and symptoms, and pulse and tongue features. Insomnia is a symptom that frequently occurs in major depressive disorder despite adequate antidepressant treatment. This study aims to identify co-occurrence patterns in participants with persistent insomnia and major depressive disorder from clinical feature data using latent tree analysis, and to compare the latent variables with relevant CM syndromes. One hundred and forty-two participants with persistent insomnia and a history of major depressive disorder completed a standardized checklist (the Chinese Medicine Insomnia Symptom Checklist) specially developed for CM syndrome classification of insomnia. The checklist covers symptoms and signs, including tongue and pulse features. The clinical features assessed by the checklist were analyzed using Lantern software. CM practitioners with relevant experience compared the clinical feature variables under each latent variable with reference to relevant CM syndromes, based on a previous review of CM syndromes. The symptom data were analyzed to build the latent tree model and the model with the highest Bayes information criterion score was regarded as the best model. This model contained 18 latent variables, each of which divided participants into two clusters. Six clusters represented more than 50 % of the sample. The clinical feature co-occurrence patterns of these six clusters were interpreted as the CM syndromes Liver qi stagnation transforming into fire, Liver fire flaming upward, Stomach disharmony, Hyperactivity of fire due to yin deficiency, Heart-kidney noninteraction, and Qi deficiency of the heart and gallbladder. The clinical feature variables that contributed significant cumulative information coverage (at least 95 %) were identified. Latent tree model analysis on a sample of depressed participants with insomnia revealed 13 clinical

Distinctive pattern of expression of spermatogenic molecular markers in testes of azoospermic men with non-mosaic Klinefelter syndrome.

Science.gov (United States)

Kleiman, Sandra E; Yogev, Leah; Lehavi, Ofer; Yavetz, Haim; Hauser, Ron

2016-06-01

Mature sperm cells can be found in testicular specimens extracted from azoospermic men with non-mosaic Klinefelter syndrome (KS). The present study evaluates the expression of various known molecular markers of spermatogenesis in a population of men with KS and assesses the ability of those markers to predict spermatogenesis. Two groups of men with non-obstructive azoospermia who underwent testicular sperm-retrieval procedures were included in the study: 31 had non-mosaic KS (KS group) and 91 had normal karyotype (NK group). Each group was subdivided into mixed atrophy (containing some mature sperm cells) or Sertoli cell only syndrome according to testicular histology and cytology observations. Semi-quantitative histological morphometric analysis (interstitial hyperplasia and hyalinization, tubules with cells and abnormal thickness of the basement membrane) and expression of spermatogenetic markers (DAZ, RBM, BOLL, and CDY1) were evaluated and compared among those subgroups. Clear differences in the histological morphometry and spermatogenetic marker expression were noted between the KS and NK groups. There was a significant difference in the expression of spermatogenetic markers between the subgroups of the NK group (as expected), while no difference could be discerned between the two subgroups in the KS group. We conclude that molecular spermatogenetic markers have a pattern of expression in men with KS that is distinctively different from that of men with NK, and that it precludes and limits their use for predicting spermatogenesis in the former. It is suggested that this difference might be due to the specific highly abnormal histological morphometric parameters in KS specimens.

The Role of Executive Functions in Social Cognition among Children with Down Syndrome: Relationship Patterns

Science.gov (United States)

Amadó, Anna; Serrat, Elisabet; Vallès-Majoral, Eduard

2016-01-01

Many studies show a link between social cognition, a set of cognitive and emotional abilities applied to social situations, and executive functions in typical developing children. Children with Down syndrome (DS) show deficits both in social cognition and in some subcomponents of executive functions. However this link has barely been studied in this population. The aim of this study is to investigate the links between social cognition and executive functions among children with DS. We administered a battery of social cognition and executive function tasks (six theory of mind tasks, a test of emotion comprehension, and three executive function tasks) to a group of 30 participants with DS between 4 and 12 years of age. The same tasks were administered to a chronological-age control group and to a control group with the same linguistic development level. Results showed that apart from deficits in social cognition and executive function abilities, children with DS displayed a slight improvement with increasing chronological age and language development in those abilities. Correlational analysis suggested that working memory was the only component that remained constant in the relation patterns of the three groups of participants, being the relation patterns similar among participants with DS and the language development control group. A multiple linear regression showed that working memory explained above 50% of the variability of social cognition in DS participants and in language development control group, whereas in the chronological-age control group this component only explained 31% of the variability. These findings, and specifically the link between working memory and social cognition, are discussed on the basis of their theoretical and practical implications for children with DS. We discuss the possibility to use a working memory training to improve social cognition in this population. PMID:27679588

Sheldon-Hall syndrome

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Bamshad Michael J

2009-03-01

Full Text Available Abstract Sheldon-Hall syndrome (SHS is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. Epidemiological data for the prevalence of SHS are not available, but less than 100 cases have been reported in the literature. Other common clinical features of SHS include prominent nasolabial folds, high arched palate, attached earlobes, mild cervical webbing, short stature, severe camptodactyly, ulnar deviation, and vertical talus and/or talipes equinovarus. Typically, the contractures are most severe at birth and non-progressive. SHS is inherited in an autosomal dominant pattern but about half the cases are sporadic. Mutations in either MYH3, TNNI2, or TNNT3 have been found in about 50% of cases. These genes encode proteins of the contractile apparatus of fast twitch skeletal muscle fibers. The diagnosis of SHS is based on clinical criteria. Mutation analysis is useful to distinguish SHS from arthrogryposis syndromes with similar features (e.g. distal arthrogryposis 1 and Freeman-Sheldon syndrome. Prenatal diagnosis by ultrasonography is feasible at 18–24 weeks of gestation. If the family history is positive and the mutation is known in the family, prenatal molecular genetic diagnosis is possible. There is no specific therapy for SHS. However, patients benefit from early intervention with occupational and physical therapy, serial casting, and/or surgery. Life expectancy and cognitive abilities are normal.

Plummer-Vinson syndrome combined with arteria lusoria

International Nuclear Information System (INIS)

Prokopenko, O.P.

1988-01-01

Role of X-ray methods in diagnosis of Plummer-Vinson syndrome combined with arteria lusoria is described. X-ray patterns of esophagus illustrating its pathological changes are presented. Concrete recommendations for diagnosis of the above-mentioned disease in carrying out X-ray investigations are given

Rubella virus capsid protein modulation of viral genomic and subgenomic RNA synthesis

International Nuclear Information System (INIS)

Tzeng, W.-P.; Frey, Teryl K.

2005-01-01

The ratio of the subgenomic (SG) to genome RNA synthesized by rubella virus (RUB) replicons expressing the green fluorescent protein reporter gene (RUBrep/GFP) is substantially higher than the ratio of these species synthesized by RUB (4.3 for RUBrep/GFP vs. 1.3-1.4 for RUB). It was hypothesized that this modulation of the viral RNA synthesis was by one of the virus structural protein genes and it was found that introduction of the capsid (C) protein gene into the replicons as an in-frame fusion with GFP resulted in an increase of genomic RNA production (reducing the SG/genome RNA ratio), confirming the hypothesis and showing that the C gene was the moiety responsible for the modulation effect. The N-terminal one-third of the C gene was required for the effect of be exhibited. A similar phenomenon was not observed with the replicons of Sindbis virus, a related Alphavirus. Interestingly, modulation was not observed when RUBrep/GFP was co-transfected with either other RUBrep or plasmid constructs expressing the C gene, demonstrating that modulation could occur only when the C gene was provided in cis. Mutations that prevented translation of the C protein failed to modulate RNA synthesis, indicating that the C protein was the moiety responsible for modulation; consistent with this conclusion, modulation of RNA synthesis was maintained when synonymous codon mutations were introduced at the 5' end of the C gene that changed the C gene sequence without altering the amino acid sequence of the C protein. These results indicate that C protein translated in proximity of viral replication complexes, possibly from newly synthesized SG RNA, participate in regulating the replication of viral RNA

Syndromic surveillance: etiologic study of acute febrile illness in dengue suspicious cases with negative serology. Brazil, Federal District, 2008 Vigilância sindrômica: estudo etiológico de doenças febris agudas a partir dos casos suspeitos de dengue com sorologia não reagente. Distrito Federal, Brasil, 2008

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Ailton Domicio da Silva

2010-10-01

Full Text Available With the aim of identifying the etiology of acute febrile illness in patients suspected of having dengue, yet with non reagent serum, a descriptive study was conducted with 144 people using secondary serum samples collected during convalescence. The study was conducted between January and May of 2008. All the exams were re-tested for dengue, which was confirmed in 11.8% (n = 17; the samples that remained negative for dengue (n = 127 were tested for rubella, with 3.9% (n = 5 positive results. Among those non reactive for rubella (n = 122, tests were made for leptospirosis and hantavirus. Positive tests for leptospirosis were 13.9% (n = 17 and none for hantavirus. Non reactive results (70.8% were considered as Indefinite Febrile Illness (IFI. Low schooling was statistically associated with dengue, rubella and leptospirosis (p = 0.009, dyspnea was statistically associated with dengue and leptospirosis (p = 0.012, and exanthem/petechia with dengue and rubella (p = 0.001. Among those with leptospirosis, activities in empty or vacant lots showed statistical association with the disease (p = 0.013. Syndromic surveillance was shown to be an important tool in the etiologic identification of IFI in the Federal District of Brazil.Com o objetivo de identificar a etiologia de doenças febris agudas, em suspeitos de dengue com sorologia não reagente, realizou-se estudo descritivo com 144 pessoas utilizando amostras de soro coletados na convalescença, entre janeiro e março de 2008. Todos os exames foram re-testados para dengue, sendo as amostras negativas, processadas para rubéola (n = 127. Dentre as não reagentes para rubéola, submeteu-se ao teste para leptospirose (n = 122, e em se permanecendo sem diagnóstico, testou-se para hantavirose. Confirmou-se dengue em 11,8% (n = 17, rubéola em 3,9% (n = 5 e leptospirose em 13,9% (n = 17. Os resultados não reagentes foram considerados como doença febril aguda indiferenciada (DFI em 70.8% dos casos

Noonan syndrome: a clinical and genetic study of 31 patients

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Bertola Débora Romeo

1999-01-01

Full Text Available Noonan syndrome is a multiple congenital anomaly syndrome, inherited in an autosomal dominant pattern. We studied 31 patients (18 males and 13 females affected by this disorder regarding their clinical and genetic characteristics. The most frequent clinical findings were short stature (71%; craniofacial dysmorphisms, especially hypertelorism, ptosis, downslanting of the palpebral fissures; short or webbed neck (87%; cardiac anomalies (65%, and fetal pads in fingers and toes (70%. After studying the probands' first-degree relatives, we made the diagnosis of Noonan syndrome in more than one family member in three families. Therefore, the majority of our cases were sporadic.

Hutchinson-Gilford Progeria Syndrome

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Gopal G

2014-08-01

Full Text Available Hutchinson-Gilford Progeria syndrome (HGPS is a rare pediatric genetic syndrome associated with a characteristic aged appearance very early in life, generally leading to death in the second decade of life. Apart from premature aging, the other notable characteristics of children with HGPS include extreme short stature, prominent superficial veins, poor weight gain, alopecia, as well as various skeletal and cardiovascular pathologies associated with advanced age. The pattern of inheritance of HGPS is uncertain, though both autosomal dominant and autosomal recessive modes have been described. Recent genetic studies have demonstrated mutations in the LMNA gene in children with HGPS. In this article, we report a 16 years old girl who had the phenotypic features of HGPS and was later confirmed to have LMNA mutation by genetic analysis.

A cross-cultural perspective on irritable bowel syndrome.

Science.gov (United States)

Gerson, Charles D; Gerson, Mary-Joan

2010-01-01

Irritable bowel syndrome is a functional gastrointestinal illness, defined by symptoms. Irritable bowel syndrome has been described as a biopsychosocial condition, in which colonic dysfunction is affected by psychological and social factors. As a result of this unusual constellation, irritable bowel syndrome may be subject to cultural variables that differ in different parts of the globe. In this article, we describe some of the ways in which irritable bowel syndrome may be experienced differently, depending on local belief systems, psychological pressures, acceptance or resistance to a mind-body paradigm, and breakdown in support or relationship structure. Examples are given in which irritable bowel syndrome investigators from countries around the world describe various aspects of the syndrome that may affect the illness experience of their patients. We describe our own research studies that have demonstrated possible adverse effects on disease severity from relationship conflict, attribution of symptoms to physical rather than emotional cause, and the belief that irritable bowel syndrome is enduring and mysterious. Also described is our finding that symptom patterns may differ significantly between different geographic locations. Finally, we discuss the importance of "cultural competence" on the part of healthcare professionals in regard to caring for patients of diverse cultural backgrounds. © 2010 Mount Sinai School of Medicine.

Noonan syndrome: an update on growth and development.

Science.gov (United States)

Yart, Armelle; Edouard, Thomas

2018-02-01

To provide an update on recent developments on Noonan syndrome with a special focus on endocrinology, bone, and metabolism aspects. The key issues still to be resolved and the future therapeutic perspectives will be discussed. The discovery of the molecular genetic causes of Noonan syndrome and Noonan-syndrome-related disorders has permitted us to better understand the mechanisms underlying the different symptoms of these diseases and to establish genotype-phenotype correlations (in growth patterns for example). In addition to the classical clinical hallmarks of Noonan syndrome, new important aspects include decreased fertility in men, lean phenotype with increased energy expenditure and possible impact on carbohydrate metabolism/insulin sensitivity, and impaired bone health. Further clinical studies are needed to investigate the long-term impact of these findings and their possible interconnections. Finally, the understanding of the crucial role of RAS/mitogen-activated protein kinases dysregulation in the pathophysiology of Noonan syndrome allows us to devise new therapeutic approaches. Some agents are currently undergoing clinical trials in Noonan syndrome patients. On the last 10 years, our knowledge of the molecular basis and the pathophysiology of Noonan syndrome has greatly advanced allowing us to gain insight in all the aspects of this disease and to devise new specific therapeutic strategies.

Studies of malformation syndromes in man XXXX: multiple congenital anomalies/mental retardation syndrome or variant familial developmental pattern; differential diagnosis and description of the McDonough syndrome (with XXY son from XY/XXY father).

Science.gov (United States)

Neuhäuser, G; Opitz, J M

1975-11-13

The McDonough syndrome is a "new" MCA/MR syndrome which was found in 3 children (1 girl, 2 boys) of non-consanguineous parents. The affected children were mentally retarded (IQ 47--67) and had congenital heart defect, sternal deformity, kyphosis and craniofacila anomalies (anteverted auricles, upward slanted palpebral fissures, squint); cryptorchidism was present in the 2 boys. In addition a possible VFDP is postulated as the explanation for similar features in affected and unaffected siblings and parents. However, the McDonough syndrome may be an autosomal recessive trait with minor manifestations in heterozygotes. The klinefelter syndrome in one affected boy and a 46,XY/47,XXY chromosome constitution in the father was a coincidental finding.

Obstructive sleep apnoea syndrome in children

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Anna Włodarska

2016-09-01

Full Text Available Sleep-related breathing disorders in children are a clinical problem which is more and more often diagnosed by doctors nowadays. They can be the basis for diagnosing obstructive sleep apnoea syndrome that causes a number of complications: lowering the quality of life, behavioural problems, complications involving cardiovascular system. The incidence of obstructive sleep apnoea syndrome in the paediatric population is estimated to be at the level of 2%. The symptoms of obstructive sleep apnoea syndrome can be divided into daytime and night ones. Night symptoms in children include: snoring, apnoea, breathing with open mouth (both during the day and at night, dry tongue and mouth during sleep, agitated sleep in unnatural positions. Among daytime symptoms of obstructive sleep apnoea syndrome there are: irritability, aggressiveness, hyperactivity, attention deficit disorder, delayed development and growth pattern (mainly failure to thrive, learning problems, morning headaches. Parents often do not connect the night and daytime symptoms with the possible development of obstructive sleep apnoea syndrome in their children. The main predisposing factor of obstructive sleep apnoea syndrome in children is adenotonsillar hypertrophy. Effective and in most cases preferred treatment for the management of obstructive sleep apnoea syndrome in children is adenotonsillectomy. Polysomnography and polygraphy are diagnostic tools helpful in the study of sleep-related disorders. The objective of this study was to systematise the knowledge on the epidemiology, aetiology, clinical image and prevention of obstructive sleep apnoea syndrome in children.

Attachment and the metabolic syndrome in midlife: the role of interview-based discourse patterns.

Science.gov (United States)

Davis, Cynthia R; Usher, Nicole; Dearing, Eric; Barkai, Ayelet R; Crowell-Doom, Cynthia; Neupert, Shevaun D; Mantzoros, Christos S; Crowell, Judith A

2014-10-01

Adult attachment discourse patterns and current family relationship quality were examined as correlates of health behaviors and number of metabolic syndrome (MetS) criteria met, and as mediators of the link between childhood adversity and these health outcomes. A sample of 215 white/European American and black/African American adults aged 35 to 55 years were examined using a cross-sectional study design. Discourse was assessed with the Adult Attachment Interview, using coherence (a marker of attachment security), unresolved trauma/loss (a marker of disorganized cognitions related to trauma or loss), and idealization (minimizing stressful experiences and their impact) scores. Relationship quality, adverse childhood experiences, and current depressive symptoms were assessed, as were health behaviors of diet, exercise, and smoking. MetS includes obesity, elevated blood pressure, elevated fasting glucose, high triglycerides, and low high-density lipoprotein cholesterol. Using path analysis and including childhood adversity severity and depressive symptoms in the model, both Adult Attachment Interview coherence and unresolved trauma/loss were directly linked to the number of MetS criteria (r = 0.186 and r = 0.170, respectively). Idealization was indirectly linked to MetS through poor diet (r = 0.183). The final model explained 21% of the variance in scores for the number of MetS criteria met. Insecure adult attachment is associated with increased risk of MetS.

Geography of Food Consumption Patterns between South and North China.

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Song, Fangfang; Cho, Mi Sook

2017-05-05

The geographical environment, food culture, and dietary habits are substantially different between the southern and northern regions in China. We investigated the associations with dietary patterns and metabolic syndrome between Chinese adult from the southern and northern regions (North: 1249; South: 1849) using data from the Chinese Health and Nutrition 2009 survey. Respectively, four dietary patterns were identified by factor analysis in each of the two regions. Using factor analysis, each dietary pattern of factor score was calculated for three groups by tertile (T1 fasting blood glucose (OR: 1.37; 95%: 1.05, 1.80), and hypertension (OR: 1.55; 95%: 1.45, 1.99) was increased compared T1 to T3. In the southern region, the Convenience Food pattern was positively associated with hypertriglyceridemia (OR: 1.53; 95%: 1.03, 2.26), low high density lipoprotein (HDL)-cholesterol (OR: 1.96; 95%: 1.12, 3.43), and metabolic syndrome (OR: 1.79; 95%: 1.03, 3.11). The Alcohol dietary pattern was positively associated with high fasting blood glucose (OR: 1.83, 95%: 1.13, 2.97). There are some dietary pattern differences in the two regions. It is necessary to consider the factors of food culture and food intake habits in order to provide nutrition education to Chinese individuals from different regions in the future.

Pulmonary manifestations in anaphylactoid purpura (Henoch-Schoenlein syndrome)

International Nuclear Information System (INIS)

Fiegler, W.; Siemoneit, K.D.

1981-01-01

Pulmonary manifestations in anaphylactoid purpura (Henoch-Schoenlein-syndrome). Radiological observations are reported on 2 female adults with Henoch-Schoenlein-syndrome accompanied by reversible pulmonary disease. This form of anaphylaktoid purpura has rarely been reported until now. The pulmonary opacities are regarded as intraalveolar bleeding probably with edem and interstitial perivascular infiltrations. They developed at the same time as the skin lesions and are probably part of the disease. These pulmonary changes are characterized by the following radiological criteria: 1. parahilar, butterfly-shaped opacities, 2. air-bronchograms, 3. reticulo-nodular pattern, 4. rapid change. (orig.) [de

Immunogenicity and safety of concomitant administration of a measles, mumps and rubella vaccine (M-M-RvaxPro^®) and a varicella vaccine (VARIVAX^®) by intramuscular or subcutaneous routes at separate injection sites: a randomised clinical trial

OpenAIRE

Thomas Stéphane; Habermehl Pirmin; Gillet Yves; Eymin Cécile; Fiquet Anne

2009-01-01

Abstract Background When this trial was initiated, the combined measles, mumps and rubella (MMR) vaccine was licensed for subcutaneous administration in all European countries and for intramuscular administration in some countries, whereas varicella vaccine was licensed only for subcutaneous administration. This study evaluated the intramuscular administration of an MMR vaccine (M-M-RvaxPro®) and a varicella vaccine (VARIVAX®) compared with the subcutaneous route. Methods An open-label random...

Syndrome-source-coding and its universal generalization. [error correcting codes for data compression

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Ancheta, T. C., Jr.

1976-01-01

A method of using error-correcting codes to obtain data compression, called syndrome-source-coding, is described in which the source sequence is treated as an error pattern whose syndrome forms the compressed data. It is shown that syndrome-source-coding can achieve arbitrarily small distortion with the number of compressed digits per source digit arbitrarily close to the entropy of a binary memoryless source. A 'universal' generalization of syndrome-source-coding is formulated which provides robustly effective distortionless coding of source ensembles. Two examples are given, comparing the performance of noiseless universal syndrome-source-coding to (1) run-length coding and (2) Lynch-Davisson-Schalkwijk-Cover universal coding for an ensemble of binary memoryless sources.

Partial subclavian steal syndrome in a congenitally anomalous subclavian artery

International Nuclear Information System (INIS)

Krnic, A.; Sucic, Z.; Vucic, N.; Krolo, I.

2006-01-01

Background. A subclavian steal syndrome results from the abnormal flow of blood due to the occlusion in the subclavian artery proximal to the origin of the vertebral artery. A case of a male patient with a partial subclavian steal syndrome is presented. Case report. The syndrome was caused by a stenotic lesion of an aberrant right subclavian artery (the so called lusorian artery). The partial subclavian steal was recognized using the duplex ultrasound which showed the to and fro pattern in the right vertebral artery. Angiography of the aortic arch revealed the arterial anomaly. In our case, duplex ultrasound was a crucial method in diagnosing the partial subclavian steal syndrome. However, in order to show the arterial anomaly, the final evaluation had to be performed using arteriography. Conclusions. The early recognized partial subclavian steal syndrome provides good understanding of patient's symptoms, successful follow up, and a variety of treatment options. (author)

Criminality in men with Klinefelter's syndrome and XYY syndrome: a cohort study

OpenAIRE

Stochholm, Kirstine; Bojesen, Anders; Jensen, Anne Skakkebæk; Juul, Svend; Gravholt, Claus Højbjerg

2012-01-01

Objective To investigate the criminal pattern in men between 15 and 70 years of age diagnosed with 47,XXY (Klinefelter's syndrome (KS)) or 47,XYY compared to the general population. Design Register-based cohort study comparing the incidence of convictions among men with KS and with 47,XYY with age- and calendar-matched samples of the general population. Crime was classified into eight types (sexual abuse, homicide, burglary, violence, traffic, drug-related, arson and ‘others’). Setting Denmar...

Ecotypic and allozyme variation of Capsella bursa-pastoris and C. rubella (Brassicaceae along latitude and altitude gradients on the Iberian Peninsula

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Hoffrogge, Raimund

1999-12-01

Full Text Available Life-history traits (onset of flowering, leaf number, rosette diameter, plant height, branching number, fruit dimensions, seed number of Capsella species from the Iberian Península associated with colotúzing ability were compared in a random block field experiment. Data were evaluated by a principal component analysis. Allozymes (AAT, LAP, GDH and leaf types were recorded. C. bursa-pastoris plants originating from low and high elevations of the summer dry Mediterranean climatic zone (Sierra Nevada were early flowering, whereas those originating from the Pyrenees with an alpine climate were late. In C. bursa-pastoris the "rhomboidea" leaf type was very frequent, whereas in C. rubella it was the "heteris" leaf type. There was a change of leaf type frequencies along geographical clines which is explained by adaptive components of the leaf shape. The allozymes displayed a geographical distribuüon pattem and in C. bursa-pastoris a certain multilocus genotype appeared to be a molecular marker for an early flowering ecotype(inicio de la floración, número de hojas, diámetro de la roseta, altura de la planta, número de ramas, dimensiones del fruto y número de semillas de plantas de Capsella procedentes de la Península Ibérica mediante un experimento de bloques aleatorios en el campo. Los datos se evaluaron con un análisis de componentes principales. También se registraron el tipo de hojas y el perfil aloenzimático de las plantas. Las plantas de Capsella bursa-pastoris procedentes de altitudes altas y bajas de la zona climática Mediterránea de verano seco (Sierra Nevada mostraron ser de floración temprana, mientras que las plantas de los Pirineos, con un clima alpino, presentaron una floración tardía. En C. bursa-pastoris el tipo de hoja "rhomboidea" resultó ser el más frecuente, en tanto que en C. rubella lo fue el tipo "heteris". Se observó un cambio en las frecuencias de los tipos de hojas a lo largo de una clina geográfica, lo

Impact of an Intervention to Use a Measles, Rubella, and Polio Mass Vaccination Campaign to Strengthen Routine Immunization Services in Nepal.

Science.gov (United States)

Wallace, Aaron S; Bohara, Rajendra; Stewart, Steven; Subedi, Giri; Anand, Abhijeet; Burnett, Eleanor; Giri, Jagat; Shrestha, Jagat; Gurau, Suraj; Dixit, Sameer; Rajbhandari, Rajesh; Schluter, W William

2017-07-01

The potential to strengthen routine immunization (RI) services through supplementary immunization activities (SIAs) is an important benefit of global measles and rubella elimination and polio eradication strategies. However, little evidence exists on how best to use SIAs to strengthen RI. As part the 2012 Nepal measles-rubella and polio SIA, we developed an intervention package designed to improve RI processes and evaluated its effect on specific RI process measures. The intervention package was incorporated into existing SIA activities and materials to improve healthcare providers' RI knowledge and practices throughout Nepal. In 1 region (Central Region) we surveyed the same 100 randomly selected health facilities before and after the SIA and evaluated the following RI process measures: vaccine safety, RI planning, RI service delivery, vaccine supply chain, and RI data recording practices. Data collection included observations of vaccination sessions, interviews with the primary healthcare provider who administered vaccines at each facility, and administrative record reviews. Pair-matched analytical methods were used to determine whether statistically significant changes in the selected RI process measures occurred over time. After the SIA, significant positive changes were measured in healthcare provider knowledge of adverse events following immunization (11% increase), availability of RI microplans (+17%) and maps (+12%), and awareness of how long a reconstituted measles vial can be used before it must be discarded (+14%). For the SIA, 42% of providers created an SIA high-risk villages list, and >50% incorporated this information into RI outreach session site planning. Significant negative changes occurred in correct knowledge of measles vaccination contraindications (-11%), correct definition for a measles outbreak (-21%), and how to treat a child with a severe adverse event following immunization (-10%). Twenty percent of providers reported cancelling ≥1 RI

Pattern of irritable bowel syndrome and its impact on quality of life in primary health care center attendees, Suez governorate, Egypt

Science.gov (United States)

Abdulmajeed, Ahmed; Rabab, Mohamed A; Sliem, Hamdy A; Hebatallah, Nour Eldein

2011-01-01

Introduction Irritable bowel syndrome (IBS) is one of the most common disorders diagnosed by gastroenterologists and a common cause of general practice visits. Although this disease is not life threatening, patients with IBS seem to be seriously affected in their everyday life. The study was designed to explore the pattern of IBS in clinical practice and the impact on the quality of life. Methods This is a case control descriptive study. 117 individuals were included in this study. Rome II criteria were used for the diagnosis of IBS. Impact of IBS on patient's quality of life was determined by irritable bowel syndrome quality of life (IBS-QOL) questionnaire. Results Prevalence of IBS among the study sample was 34.2%. 10% were IBS-Diarrhea, 37.5% were IBS-Constipation and 52.5% were alternators. There is statistical insignificant relationship between IBS (+) and age while it was a significant relation regarding gender (more common among women 80%). There is statistical significance relationship between IBS (+) on one hand and marital status and occupational status on the other hand. Patients with IBS had statistically significant lower scores for all IBS- QOL domains compared with the control group. Conclusion IBS is a prevalent disorder that affects females more than males and it has significant impacts on work, lifestyle and social well-being. PMID:22145053

Challenging behavior: Behavioral phenotypes of some genetic syndromes

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Buha Nataša

2014-01-01

Full Text Available Challenging behavior in individuals with mental retardation (MR is relatively frequent, and represents a significant obstacle to adaptive skills. The frequency of specific forms and manifestations of challenging behavior can depend on a variety of personal and environmental factors. There are several prominent theoretical models regarding the etiology of challenging behavior and psychopathology in persons with MR: behavioral, developmental, socio-cultural and biological. The biological model emphasizes the physiological, biochemical and genetic factors as the potential source of challenging behavior. The progress in the field of genetics and neuroscience has opened the opportunity to study and discover the neurobiological basis of phenotypic characteristics. Genetic syndromes associated with MR can be followed by a specific set of problems and disorders which constitutes their behavioral phenotype. The aim of this paper was to present challenging behaviors that manifest in the most frequently studied syndromes: Down syndrome, Fragile X syndrome, Williams syndrome, Prader-Willi syndrome and Angelman syndrome. The concept of behavioral phenotype implies a higher probability of manifesting specific developmental characteristics and specific behaviors in individuals with a certain genetic syndrome. Although the specific set of (possible problems and disorders is distinctive for the described genetic syndromes, the connection between genetics and behavior should be viewed through probabilistic dimension. The probabilistic concept takes into consideration the possibility of intra-syndrome variability in the occurrence, intensity and time onset of behavioral characteristics, at which the higher variability the lower is the specificity of the genetic syndrome. Identifying the specific pattern of behavior can be most important for the process of early diagnosis and prognosis. In addition, having knowledge about behavioral phenotype can be a landmark in

The trichorhinophalangeal syndrome

International Nuclear Information System (INIS)

Tuzovic, S.; Fiebach, B.J.O.; Magnus, L.; Sauerbrei, H.U.

1982-01-01

This article reports on 14 cases of a trichorhinophalangeal syndrome in five successive generations. Besides the well-known characteristics of the TRPS the following symptoms observed in this family are new: Teething was considerably delayed, intelligence was reduced, and there were skin manifestations resembling eczema. Besides, struma colli and colitis ulcerosa were also observed. Subsequent observations have to clarify whether these symptoms are a facultative part of the TRPS pattern. The constant appearance of carriers of these characteristics during five generation points to dominant heredity. (orig.) [de

Pulmonary mineralization in four dogs with Cushing's syndrome

International Nuclear Information System (INIS)

Berry, C.R.; Ackerman, N.; Monce, K.

1994-01-01

The clinical and imaging features of four dogs with Cushing's syndrome and pulmonary mineralization are reviewed. Three dogs presented with a primary complaint of respiratory distress/dyspnea. Three dogs had pituitary dependent Cushing's syndrome, while the remaining one dog had iatrogenic Cushing's syndrome. Each dog had clinical features typical for Cushing's syndrome. Two of the dogs were euthanized due to progressive hypoxemia. In each dog, the serum calcium, phosphorous, blood urea nitrogen and creatinine were normal. A generalized increase in unstructured interstitial pulmonary opacity with diffuse mineralization was noted on thoracic radiographs of all dogs. In one dog, an ill-defined nodular interstitial pattern of mineralization was present. Delayed bone phase scintigraphy using 99m Technetium methylene diphosphonate documented generalized pulmonary uptake in two dogs. 99m Technetium labeled microaggregated albumin lung perfusion scans were normal in these two dogs. 99m Tc-MDP scintigraphy can provide useful information in diagnosing pulmonary mineralization in Cushingoid dogs

TAFRO syndrome: current perspectives.

Science.gov (United States)

Sakashita, Kentaro; Murata, Kengo; Takamori, Mikio

2018-01-01

Multicentric Castleman's disease (MCD), a distinct subtype of Castleman's disease, is a rare, nonneoplastic, lymphoproliferative disorder. Patients with MCD present with systemic symptoms and multiple lymphadenopathy. Lymph node biopsy is necessary for the diagnosis of various histological MCD patterns including hyaline vascular, plasma cell, and mixed types. Human herpesvirus 8 (HHV8) infection was identified as an important etiology of MCD among immunocompromised patients such as those positive for human immunodeficiency virus. Although HHV8-negative MCD was reported in immunocompetent patients, the underlying etiology remains unknown. Several experts speculate that MCD in immunocompetent patients might be due to proinflammatory hypercytokinemia because of infection by a virus other than HHV8, inflammation, or neoplastic disease. In 2010, a distinct variant of HHV8-negative MCD reported in Japan was characterized by thrombocytopenia, anasarca, myelofibrosis, renal dysfunction, and organomegaly (TAFRO). Recent case reports and a systematic review suggest that TAFRO syndrome might have a unique pathogenesis among HHV8-negative MCD variants. This review introduces TAFRO syndrome as a subtype of HHV8-negative MCD and offers an overview of the current perspectives on this syndrome.

The syndrome of Capgras.

Science.gov (United States)

Sinkman, Arthur

2008-01-01

The delusional belief that a close relative has been replaced by a look-alike impostor was named the Capgras delusion in honor of Joseph Capgras, who described the first case. Capgras's original patient, Mme M., had a complex mental illness with various symptoms in addition to the delusion of substitution. The focus in the literature has always been on her eponymous delusion, ignoring the rest of her condition. However, studying the substitution delusion in isolation from the rest of her illness has led to inadequate conclusions. It is necessary to understand the delusion within the broad context of her illness. Toward that goal, her mental illness is described here in detail. A particular pattern of delusions and illness is identified. This same pattern is noted in other cases of Capgras in the literature. Three new cases are reported here, each with the same overall pattern of illness that Mme M. had. This pattern is labeled the Syndrome of Capgras. A hypothesis is offered to explain the Capgras delusion within the context of this illness.

Light and scanning electron microscopic examination of hair in Garlic's syndrome

International Nuclear Information System (INIS)

Celik, Hakan H.; Tunali, S.; Tatar, I.; Aldur, Muhammad M.; Tore, H.

2007-01-01

Grisceli syndrome is a rare disease is a rare disease characterized by pigment dilution, partial albinism, variable cellular immunodeficiency and an acute phase of uncontrolled T-lymphocyte macrophage activation. Griscelli et al described this syndrome in 1978. Since then, only approximately, 60 cases have been reported, most from Turkish and Mediterranean population. In microscopic examination, silvery grey hair with large clumped melanosomes on the hair shaft is the diagnostic finding. Here, we present scanning electron microscopic study of hair in 2 cases of Griscelli syndrome where the hair showed normal cuticular pattern but nodular structures were present as an abnormal finding. (author)

Unsuspected costo-vertebral fractures demonstrated by bone scanning in the child abuse syndrome

Energy Technology Data Exchange (ETDEWEB)

Smith, F W; Gilday, D L; Ash, J M; Green, M D

1980-01-01

Many patterns of injury have been described in the child abuse syndrome. Until recently, all the bone manifestations of this syndrome have been diagnosed radiologically. Four cases of multiple costovertebral fracture diagnosed by bone scan are described and their etiology discussed. The use of bone scanning in identifying fractures which previously would have been missed is advocated.

Unsuspected costo-vertebral fractures demonstrated by bone scanning in the child abuse syndrome

International Nuclear Information System (INIS)

Smith, F.W.; Gilday, D.L.; Ash, J.M.; Green, M.D.

1980-01-01

Many patterns of injury have been described in the child abuse syndrome. Until recently, all the bone manifestations of this syndrome have been diagnosed radiologically. Four cases of multiple costovertebral fracture diagnosed by bone scan are described and their etiology discussed. The use of bone scanning in identifying fractures which previously would have been missed is advocated. (orig.) [de

MRI findings of Guillain-Barre syndrome

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Park, Won Kyu; Lee, Hwa Jin; Byun, Woo Mok [Yeungnam Univ. College of Medicine, Taegu (Korea, Republic of)

1997-04-01

To evaluate MRI findings of Guillain-Barre syndrome. In six patients with Guillain-Barre syndrome diagnosed by clinical, cerebrospinal fluid and electrophysiologic findings, a retrospective review of MR findings was conducted. Follow-up MRI scans were carried out in two patients showing minimal clinical improvement. Marked or moderate enhancement of thickened nerve roots was seen in all cases on gadopentetate dimeglumine enhanced axial T1-weighted images. Two patterns were seen; one was even enhancement of both anterior and posterior nerve roots (n=1) and the other was enhancement of anterior nerve roots only (n=5). Enhancement and thickness of nerve roots was seen to have slightly decreased on MRI follow-up at 32 and 50 days; clinical and electrophysiologic examination showed minimal improvement. Although MRI findings of nerve root enhancement are nonspecific and can be seen in neoplastic and other inflammatory diseases, the enhancement of thickened anterior nerve roots within the cal sac suggests Guillain-Barre syndrome.

MRI findings of Guillain-Barre syndrome

International Nuclear Information System (INIS)

Park, Won Kyu; Lee, Hwa Jin; Byun, Woo Mok

1997-01-01

To evaluate MRI findings of Guillain-Barre syndrome. In six patients with Guillain-Barre syndrome diagnosed by clinical, cerebrospinal fluid and electrophysiologic findings, a retrospective review of MR findings was conducted. Follow-up MRI scans were carried out in two patients showing minimal clinical improvement. Marked or moderate enhancement of thickened nerve roots was seen in all cases on gadopentetate dimeglumine enhanced axial T1-weighted images. Two patterns were seen; one was even enhancement of both anterior and posterior nerve roots (n=1) and the other was enhancement of anterior nerve roots only (n=5). Enhancement and thickness of nerve roots was seen to have slightly decreased on MRI follow-up at 32 and 50 days; clinical and electrophysiologic examination showed minimal improvement. Although MRI findings of nerve root enhancement are nonspecific and can be seen in neoplastic and other inflammatory diseases, the enhancement of thickened anterior nerve roots within the cal sac suggests Guillain-Barre syndrome

Patterns and Trajectories in Williams Syndrome: The Case of Visual Orientation Discrimination

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Palomares, Melanie; Englund, Julia A.; Ahlers, Stephanie

2011-01-01

Williams Syndrome (WS) is a developmental disorder typified by deficits in visuospatial cognition. To understand the nature of this deficit, we characterized how people with WS perceive visual orientation, a fundamental ability related to object identification. We compared WS participants to typically developing children (3-6 years of age) and…

Cortical correlates of affective syndrome in dementia due to Alzheimer’s disease

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Thaís T. Hayata

2015-07-01

Full Text Available Neuropsychiatric symptoms in Alzheimer’s disease (AD are prevalent, however their relationship with patterns of cortical atrophy is not fully known. Objectives To compare cortical atrophy’s patterns between AD patients and healthy controls; to verify correlations between neuropsychiatric syndromes and cortical atrophy. Method 33 AD patients were examined by Neuropsychiatric Inventory (NPI. Patients and 29 controls underwent a 3T MRI scanning. We considered four NPI syndromes: affective, apathy, hyperactivity and psychosis. Correlations between structural imaging and neuropsychiatric scores were performed by Freesurfer. Results were significant with a p-value < 0.05, corrected for multiple comparisons. Results Patients exhibited atrophy in entorhinal cortices, left inferior and middle temporal gyri, and precuneus bilaterally. There was correlation between affective syndrome and cortical thickness in right frontal structures, insula and temporal pole. Conclusion Cortical thickness measures revealed atrophy in mild AD. Depression and anxiety symptoms were associated with atrophy of right frontal, temporal and insular cortices.

A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect

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De Molfetta Greice Andreotti

2002-01-01

Full Text Available Angelman syndrome (AS and Prader-Willi syndrome (PWS are distinct human neurogenetic disorders; however, a clinical overlap between AS and PWS has been identified. We report on a further case of a patient showing the PWS phenotype with the AS molecular defect. Despite the PWS phenotype, the DNA methylation analysis of SNRPN revealed an AS pattern. Cytogenetic and FISH analysis showed normal chromosomes 15 and microsatellite analysis showed heterozygous loci inside and outside the 15q11-13 region. The presence of these atypical cases could be more frequent than previously expected and we reinforce that the DNA methylation analysis is important for the correct diagnosis of severe mental deficiency, congenital hypotonia and obesity.

A question of data quality-Testing pollination syndromes in Balsaminaceae.

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Stefan Abrahamczyk

Full Text Available Pollination syndromes and their predictive power regarding actual plant-animal interactions have been controversially discussed in the past. We investigate pollination syndromes in Balsaminaceae, utilizing quantitative respectively categorical data sets of flower morphometry, signal and reward traits for 86 species to test for the effect of different types of data on the test patterns retrieved. Cluster Analyses of the floral traits are used in combination with independent pollinator observations. Based on quantitative data we retrieve seven clusters, six of them corresponding to plausible pollination syndromes and one additional, well-supported cluster comprising highly divergent floral architectures. This latter cluster represents a non-syndrome of flowers not segregated by the specific data set here used. Conversely, using categorical data we obtained only a rudimentary resolution of pollination syndromes, in line with several earlier studies. The results underscore that the use of functional, exactly quanitified trait data has the power to retrieve pollination syndromes circumscribed by the specific data used. Data quality can, however, not be replaced by sheer data volume. With this caveat, it is possible to identify pollination syndromes from large datasets and to reliably extrapolate them for taxa for which direct observations are unavailable.

Refeeding syndrome as an iatrogenic cause of delirium: a retrospective pilot study.

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Caplan, Jason P; Chang, Grace

2010-01-01

Refeeding syndrome describes a pattern of electrolyte disturbances occurring after the reintroduction of nutrition to the malnourished patient; it is often associated with delirium. The authors investigated whether hospitalized elderly patients who develop delirium are more likely to have laboratory findings consistent with refeeding syndrome. The authors conducted a retrospective chart review of 100 patients over age 60. Charts were examined for indications of delirium and refeeding syndrome. Significantly lower serum levels of magnesium and phosphate were found in patients with delirium. Delirium was not associated with any significant difference in levels of potassium. This study supports an association between delirium in elderly patients and electrolyte changes consistent with those seen in refeeding syndrome.

Facial emotion recognition in Williams syndrome and Down syndrome: A matching and developmental study.

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Martínez-Castilla, Pastora; Burt, Michael; Borgatti, Renato; Gagliardi, Chiara

2015-01-01

In this study both the matching and developmental trajectories approaches were used to clarify questions that remain open in the literature on facial emotion recognition in Williams syndrome (WS) and Down syndrome (DS). The matching approach showed that individuals with WS or DS exhibit neither proficiency for the expression of happiness nor specific impairments for negative emotions. Instead, they present the same pattern of emotion recognition as typically developing (TD) individuals. Thus, the better performance on the recognition of positive compared to negative emotions usually reported in WS and DS is not specific of these populations but seems to represent a typical pattern. Prior studies based on the matching approach suggested that the development of facial emotion recognition is delayed in WS and atypical in DS. Nevertheless, and even though performance levels were lower in DS than in WS, the developmental trajectories approach used in this study evidenced that not only individuals with DS but also those with WS present atypical development in facial emotion recognition. Unlike in the TD participants, where developmental changes were observed along with age, in the WS and DS groups, the development of facial emotion recognition was static. Both individuals with WS and those with DS reached an early maximum developmental level due to cognitive constraints.

Nicolau Syndrome after Intramuscular Injection: 3 Cases

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Seok-Kwun Kim

2012-05-01

Full Text Available Nicolau syndrome is a rare complication of intramuscular injection consisting of ischemic necrosis of skin, soft tissue, and muscular tissue that arises locoregionally. The characteristic pattern is pain around the injection site, developing into erythema, a livedoid dermatitis patch, and necrosis of the skin, subcutaneous fat, and muscle tissue. Three patients were injected with drugs (diclofenac sodium, ketoprofen, meperidine for pain relief. Three patients complained of pain, and a skin lesion was observed, after which necrosis developed on their buttocks. Each patient underwent debridement and coverage. The wound healed uneventfully. We report three cases of Nicolau syndrome in the buttocks following diclofenac intramuscular injection.

Imaging findings of Copa syndrome in a 12-year-old boy

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Noorelahi, Razan; Otero, Hansel J. [George Washington University School of Medicine and Health Services, Department of Diagnostic Imaging and Radiology, Children' s National Health System, Washington, DC (United States); Perez, Geovany [George Washington University School of Medicine and Health Sciences, Pulmonary and Sleep Medicine Division, Washington, DC (United States)

2018-02-15

Copa syndrome is a newly described autosomal dominant autoinflammatory disease that presents as pulmonary hemosiderosis and polyarticular arthritis. Twenty-one cases from five families have been reported to date. We present chest computed tomography (CT) and temporomandibular joint magnetic resonance (MR) findings of a 12-year-old boy presenting with dyspnea on exertion, fatigue and clubbing. Additional findings included a restrictive pattern of pulmonary involvement and positive inflammatory markers and autoantibodies. Genetic testing revealed a p.W240R variant of the COPA gene confirming the diagnosis of Copa syndrome. CT of the chest showed a nonspecific interstitial pneumonia pattern distributed mainly in the lower lobes. MR of the temporomandibular joints and follow-up CT three years later are also described. (orig.)

The Evaluation of Pelvic Cross Syndrome in Patients with Non-specific Chronic Low Back Pain

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Amir Masoud A'rab

2007-10-01

Full Text Available Objective: The purpose of this study was the investigation of relationship between muscle imbalance syndrome in the lumbo-pelvic area (Pelvic Cross Syndrome which includes the combination of weakness of phasic muscles and tightness of postural muscles, lordosis and chronic low back pain. Materials & Methods: This study was a comparative - cross-sectional and case – control research. A convenience sample of 600 subjects participated in this study. The size of lordosis, strength of abdominal and gluteal muscles and the extensibility of iliopsoas and back extensor muscles were measured in each group. The best cut-off values obtained from Receiver Operating Characteristic (ROC curve analysis were used to categorize subjects as having weak or tight muscles in accordance with the assumptions. The lumbar lordosis in subjects with and without patterns of muscle impairments, and the association between lordosis and low back pain was assessed. Data were analyzed by using statistical methods such as: ICC, Kolmogroff – Smirnoff, Independent T test and ANOVA. Results: The Findings of this study showed no significant difference in the degree of lordosis in subjects with and without patterns of muscle impairment in pelvic cross syndrome (P=0.38 and no significant difference in the lordosis between subjects with and without low back pain among those with specific patterns of muscle impairment in pelvic cross syndrome (P=0.62. Data also showed no significant association between degree of lordosis and low back pain (P=0.25. Conclusion: The findings of this study did not support the Pelvic Cross Syndrome theory, which indicates certain patterns of muscle impairment would lead to exaggerated LL and LBP. Our data show a relationship between muscle impairment and occurrence of LBP, but probably not via changing the degree of lumbar lordosis as it has been proposed in PCS theory.

Hypoplastic left heart syndrome and the nutmeg lung pattern in utero: a cause and effect relationship or prognostic indicator?

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Saul, David; Johnson, Ann M.; Victoria, Teresa [The Children' s Hospital of Philadelphia, Radiology Department, Philadelphia, PA (United States); Degenhardt, Karl; Rychik, Jack [The Children' s Hospital of Philadelphia, Cardiac Center and Fetal Heart Program, Philadelphia, PA (United States); Iyoob, Suzanne D.; Johnson, Mark P. [The Children' s Hospital of Philadelphia, Center for Fetal Diagnosis and Treatment, Philadelphia, PA (United States); Surrey, Lea F. [The Children' s Hospital of Philadelphia, Pathology Department, Philadelphia, PA (United States)

2016-04-15

Hypoplastic left heart syndrome (HLHS) is the third most common cause of critical congenital heart disease in newborns, and one of the most challenging forms to treat. Secondary pulmonary lymphangiectasia has been recognized in association with HLHS, an appearance described on fetal MRI as the ''nutmeg lung.'' To investigate the association of fetal nutmeg lung with HLHS survival. A retrospective search of the fetal MRI database was performed. The nutmeg lung pattern was defined as T2 heterogeneous signal with tubular structures radiating peripherally from the hila. Postnatal echocardiograms and charts were reviewed. Forty-four fetal MR studies met inclusion criteria, of which 4 patients (9%) had the nutmeg lung pattern and 3 of whom also had restrictive lesions. Mortality in this nutmeg lung group was 100% by 5 months of age. Of the 40 patients without nutmeg lung, mortality/orthotopic heart transplant (OHT) was 35%. Of these 40 patients without nutmeg lung, 5 had restriction on echo, 3 of whom died/had OHT before 5 months of age (60% of patients with restriction and non-nutmeg lung). There was a significantly higher incidence of restrictive lesions (P = 0.02) and mortality/OHT (P = 0.02) in patients with nutmeg lung compared to those without. The nutmeg lung MR appearance in HLHS fetuses is associated with increased mortality/OHT (100% in the first 5 months of life compared to 35% with HLHS alone). Not all patients with restrictive lesions develop nutmeg lung, and outcome is not as poor when restriction is present in isolation. Dedicated evaluation for nutmeg lung pattern on fetal MR studies may be useful to guide prognostication and aid clinicians in counseling parents of fetuses with HLHS. (orig.)

Hypoplastic left heart syndrome and the nutmeg lung pattern in utero: a cause and effect relationship or prognostic indicator?

International Nuclear Information System (INIS)

Saul, David; Johnson, Ann M.; Victoria, Teresa; Degenhardt, Karl; Rychik, Jack; Iyoob, Suzanne D.; Johnson, Mark P.; Surrey, Lea F.

2016-01-01

Hypoplastic left heart syndrome (HLHS) is the third most common cause of critical congenital heart disease in newborns, and one of the most challenging forms to treat. Secondary pulmonary lymphangiectasia has been recognized in association with HLHS, an appearance described on fetal MRI as the ''nutmeg lung.'' To investigate the association of fetal nutmeg lung with HLHS survival. A retrospective search of the fetal MRI database was performed. The nutmeg lung pattern was defined as T2 heterogeneous signal with tubular structures radiating peripherally from the hila. Postnatal echocardiograms and charts were reviewed. Forty-four fetal MR studies met inclusion criteria, of which 4 patients (9%) had the nutmeg lung pattern and 3 of whom also had restrictive lesions. Mortality in this nutmeg lung group was 100% by 5 months of age. Of the 40 patients without nutmeg lung, mortality/orthotopic heart transplant (OHT) was 35%. Of these 40 patients without nutmeg lung, 5 had restriction on echo, 3 of whom died/had OHT before 5 months of age (60% of patients with restriction and non-nutmeg lung). There was a significantly higher incidence of restrictive lesions (P = 0.02) and mortality/OHT (P = 0.02) in patients with nutmeg lung compared to those without. The nutmeg lung MR appearance in HLHS fetuses is associated with increased mortality/OHT (100% in the first 5 months of life compared to 35% with HLHS alone). Not all patients with restrictive lesions develop nutmeg lung, and outcome is not as poor when restriction is present in isolation. Dedicated evaluation for nutmeg lung pattern on fetal MR studies may be useful to guide prognostication and aid clinicians in counseling parents of fetuses with HLHS. (orig.)

Three molecular pathways model colorectal carcinogenesis in Lynch syndrome.

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Ahadova, Aysel; Gallon, Richard; Gebert, Johannes; Ballhausen, Alexej; Endris, Volker; Kirchner, Martina; Stenzinger, Albrecht; Burn, John; von Knebel Doeberitz, Magnus; Bläker, Hendrik; Kloor, Matthias

2018-07-01

Lynch syndrome is caused by germline mutations of DNA mismatch repair (MMR) genes. MMR deficiency has long been regarded as a secondary event in the pathogenesis of Lynch syndrome colorectal cancers. Recently, this concept has been challenged by the discovery of MMR-deficient crypt foci in the normal mucosa. We aimed to reconstruct colorectal carcinogenesis in Lynch syndrome by collecting molecular and histology evidence from Lynch syndrome adenomas and carcinomas. We determined the frequency of MMR deficiency in adenomas from Lynch syndrome mutation carriers by immunohistochemistry and by systematic literature analysis. To trace back the pathways of pathogenesis, histological growth patterns and mutational signatures were analyzed in Lynch syndrome colorectal cancers. Literature and immunohistochemistry analysis demonstrated MMR deficiency in 491 (76.7%) out of 640 adenomas (95% CI: 73.3% to 79.8%) from Lynch syndrome mutation carriers. Histologically normal MMR-deficient crypts were found directly adjacent to dysplastic adenoma tissue, proving their role as tumor precursors in Lynch syndrome. Accordingly, mutation signature analysis in Lynch colorectal cancers revealed that KRAS and APC mutations commonly occur after the onset of MMR deficiency. Tumors lacking evidence of polypous growth frequently presented with CTNNB1 and TP53 mutations. Our findings demonstrate that Lynch syndrome colorectal cancers can develop through three pathways, with MMR deficiency commonly representing an early and possibly initiating event. This underlines that targeting MMR-deficient cells by chemoprevention or vaccines against MMR deficiency-induced frameshift peptide neoantigens holds promise for tumor prevention in Lynch syndrome. © 2018 UICC.

Clinical characteristics in genetically distinct forms of the congenital long QT syndrome

International Nuclear Information System (INIS)

Kawahara, Yosuke; Sawayama, Toshitami; Samukawa, Masanobu; Nezuo, Shoso; Tanaka, Junji; Suetsuna, Ryoji; Kamiyama, Norio

1998-01-01

The clinical characteristics in genetically distinct forms of the congenital long QT syndrome (LQTs) were examined on the balance of bilateral sympathetic nerves, and ECG findings. The subjects (mean: 19.4 years old) were three genetically distinct forms of LQTs, including 3 patients in A-family (the high risk family with sudden death), 2 patients in B-family and 3 patients in C-family. All patients met the standard diagnostic criteria according to Schwartz. As the index of the balance of bilateral sympathetic nerves, the dissociation of Tl and MIBG uptake (D) was examined and the radioactivity ratio (the A/L ratio) of anteroseptal wall to posterolateral wall was calculated. The T-wave patterns of ECG and the situation at syncope were examined. In A-family, all 3 patients showed the lowered A/L ratio, D(+), and similar T-wave patterns in ECG. The syndrome developed at exercise, and their QTc extended at exercise. In B-family, all 2 patients showed normal A/L ratio and long T-wave at QT onset, and their QTc shortened at exercise. All patients had developed syncope at rest. In C-family, all 3 patients showed a little decrease of A/L ratio and similar T-wave patterns. Their QTc extended at exercise. These results suggest that the characteristics of the sympathetic nerve balance, ECG wave patterns and the syndrome may depend on each family. (K.H.)

Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes-MELAS Syndrome.

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Henry, Caitlin; Patel, Neema; Shaffer, William; Murphy, Lillian; Park, Joe; Spieler, Bradley

2017-01-01

Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a rare inherited disorder that results in waxing and waning nervous system and muscle dysfunction. MELAS syndrome may overlap with other neurologic disorders but shows distinctive imaging features. We present the case of a 28-year-old female with atypical stroke-like symptoms, a strong family history of stroke-like symptoms, and a relapsing-remitting course for several years. We discuss the imaging features distinctive to the case, the mechanism of the disease, typical presentation, imaging diagnosis, and disease management. This case is a classic example of the relapse-remitting MELAS syndrome progression with episodic clinical flares and fluctuating patterns of stroke-like lesions on imaging. MELAS is an important diagnostic consideration when neuroimaging reveals a pattern of disappearing and relapsing cortical brain lesions that may occur in different areas of the brain and are not necessarily limited to discrete vascular territories. Future studies should investigate disease mechanisms at the cellular level and the value of advanced magnetic resonance imaging techniques for a targeted approach to therapy.

Understanding Bartter syndrome and Gitelman syndrome.

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Fremont, Oliver T; Chan, James C M

2012-02-01

We aim to review the clinical features of two renal tubular disorders characterized by sodium and potassium wasting: Bartter syndrome and Gitelman syndrome. Selected key references concerning these syndromes were analyzed, together with a PubMed search of the literature from 2000 to 2011. The clinical features common to both conditions and those which are distinct to each syndrome were presented. The new findings on the genetics of the five types of Bartter syndrome and the discrete mutations in Gitelman syndrome were reviewed, together with the diagnostic workup and treatment for each condition. Patients with Bartter syndrome types 1, 2 and 4 present at a younger age than classic Bartter syndrome type 3. They present with symptoms, often quite severe in the neonatal period. Patients with classic Bartter syndrome type 3 present later in life and may be sporadically asymptomatic or mildly symptomatic. The severe, steady-state hypokalemia in Bartter syndrome and Gitelman syndrome may abruptly become life-threatening under certain aggravating conditions. Clinicians need to be cognizant of such renal tubular disorders, and promptly treat at-risk patients.

Immunogenicity and safety of concomitant administration of a measles, mumps and rubella vaccine (M-M-RvaxPro® and a varicella vaccine (VARIVAX® by intramuscular or subcutaneous routes at separate injection sites: a randomised clinical trial

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Thomas Stéphane

2009-04-01

Full Text Available Abstract Background When this trial was initiated, the combined measles, mumps and rubella (MMR vaccine was licensed for subcutaneous administration in all European countries and for intramuscular administration in some countries, whereas varicella vaccine was licensed only for subcutaneous administration. This study evaluated the intramuscular administration of an MMR vaccine (M-M-RvaxPro® and a varicella vaccine (VARIVAX® compared with the subcutaneous route. Methods An open-label randomised trial was performed in France and Germany. Healthy children, aged 12 to18 months, received single injections of M-M-RvaxPro and VARIVAX concomitantly at separate injection sites. Both vaccines were administered either intramuscularly (IM group, n = 374 or subcutaneously (SC group, n = 378. Immunogenicity was assessed before vaccination and 42 days after vaccination. Injection-site erythema, swelling and pain were recorded from days 0 to 4 after vaccination. Body temperature was monitored daily between 0 and 42 days after vaccination. Other adverse events were recorded up to 42 days after vaccination and serious adverse events until the second study visit. Results Antibody response rates at day 42 in the per-protocol set of children initially seronegative to measles, mumps, rubella or varicella were similar between the IM and SC groups for all four antigens. Response rates were 94 to 96% for measles, 98% for both mumps and rubella and 86 to 88% for varicella. For children initially seronegative to varicella, 99% achieved the seroconversion threshold (antibody concentrations of ≥ 1.25 gpELISA units/ml. Erythema and swelling were the most frequently reported injection-site reactions for both vaccines. Most injection-site reactions were of mild intensity or small size (≤ 2.5 cm. There was a trend for lower rates of injection-site erythema and swelling in the IM group. The incidence and nature of systemic adverse events were comparable for the two routes

Atypical pattern of discriminating sound features in adults with Asperger syndrome as reflected by the mismatch negativity.

Science.gov (United States)

Kujala, T; Aho, E; Lepistö, T; Jansson-Verkasalo, E; Nieminen-von Wendt, T; von Wendt, L; Näätänen, R

2007-04-01

Asperger syndrome, which belongs to the autistic spectrum of disorders, is characterized by deficits of social interaction and abnormal perception, like hypo- or hypersensitivity in reacting to sounds and discriminating certain sound features. We determined auditory feature discrimination in adults with Asperger syndrome with the mismatch negativity (MMN), a neural response which is an index of cortical change detection. We recorded MMN for five different sound features (duration, frequency, intensity, location, and gap). Our results suggest hypersensitive auditory change detection in Asperger syndrome, as reflected in the enhanced MMN for deviant sounds with a gap or shorter duration, and speeded MMN elicitation for frequency changes.

Cytokine expression patterns and mesenchymal stem cell karyotypes from the bone marrow microenvironment of patients with myelodysplastic syndromes

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Xiong, H.; Yang, X.Y.; Han, J.; Wang, Q.; Zou, Z.L. [Department of Hematology, Shanghai Clinical Research Center, Chinese Academy of Sciences, Shanghai Xuhui District Central Hospital, Shanghai (China)

2015-01-20

The purpose of this study was to explore cytokine expression patterns and cytogenetic abnormalities of mesenchymal stem cells (MSCs) from the bone marrow microenvironment of Chinese patients with myelodysplastic syndromes (MDS). Bone marrow samples were obtained from 30 cases of MDS (MDS group) and 30 healthy donors (control group). The expression pattern of cytokines was detected by customized protein array. The karyotypes of MSCs were analyzed using fluorescence in situ hybridization. Compared with the control group, leukemia inhibitory factor, stem cell factor (SCF), stromal cell-derived factor (SDF-1), bone morphogenetic protein 4, hematopoietic stem cell (HSC) stimulating factor, and transforming growth factor-β in the MDS group were significantly downregulated (P<0.05), while interferon-γ (IFN-γ), tumor necrosis factor-α (TNF-α), and programmed death ligand (B7-H1) were significantly upregulated (P<0.05). For chromosome abnormality analysis, the detection rate of abnormal karyotypes (+8, -8, -20, 20q-, -Y, -7, 5q-) was 30% in the MDS group and 0% in the control group. In conclusion, the up- and downregulated expression of these cytokines might play a key role in the pathogenesis of MDS. Among them, SCF and SDF-1 may play roles in the apoptosis of HSCs in MDS; and IFN-γ, TNF-α, and B7-H1 may be associated with apoptosis of bone marrow cells in MDS. In addition, the abnormal karyotypes might be actively involved in the pathogenesis of MDS. Further studies are required to determine the role of abnormal karyotypes in the occurrence and development of MDS.

Cytokine expression patterns and mesenchymal stem cell karyotypes from the bone marrow microenvironment of patients with myelodysplastic syndromes