Mitochondrial genome analyses suggest multiple Trichuris species in humans, baboons, and pigs from different geographical regions

DEFF Research Database (Denmark)

Hawash, Mohamed B. F.; Andersen, Lee O.; Gasser, Robin B.

2015-01-01

Trichuris from françois' leaf monkey, suggesting multiple whipworm species circulating among non-human primates. The genetic and protein distances between pig Trichuris from Denmark and other regions were roughly 9% and 6%, respectively, while Chinese and Ugandan whipworms were more closely related......) suggesting that they represented different species. Trichuris from the olive baboon in US was genetically related to human Trichuris in China, while the other from the hamadryas baboon in Denmark was nearly identical to human Trichuris from Uganda. Baboon-derived Trichuris was genetically distinct from......BACKGROUND: The whipworms Trichuris trichiura and Trichuris suis are two parasitic nematodes of humans and pigs, respectively. Although whipworms in human and non-human primates historically have been referred to as T. trichiura, recent reports suggest that several Trichuris spp. are found...

Analysis of Risk and Burden of Dysentery Associated with Floods from 2004 to 2010 in Nanning, China.

Science.gov (United States)

Liu, Zhidong; Ding, Guoyong; Zhang, Ying; Xu, Xin; Liu, Qiyong; Jiang, Baofa

2015-11-01

This study aimed to examine the association between floods and the morbidity of dysentery and to quantify the burden of dysentery due to floods in Nanning, China. A generalized additive mixed model was conducted to assess the relationship between monthly morbidity of dysentery and floods from 2004 to 2010. The years lived with disability (YLDs) of dysentery attributable to floods were then estimated based on the WHO framework of the burden of disease study for calculating the potential impact fraction. The relative risk (RR) of floods on the morbidity of dysentery was 1.44 (95% confidence interval [CI] = 1.18-1.75). The models suggest that a potential 1-day rise in flood duration may lead to 8% (RR = 1.08, 95% CI = 1.04-1.12) increase in the morbidity of dysentery. The average attributable YLD per 1,000 of dysentery caused by floods were 0.013 in males, 0.005 in females, and 0.009 in persons. Our study confirms that floods have significantly increased the risk and the burden of dysentery in the study area. Public health action should be taken to prevent and control the potential risk of dysentery after floods. Vulnerable groups such as males and children should be paid more attention. © The American Society of Tropical Medicine and Hygiene.

Financial benefit from the eradication of swine dysentery.

Science.gov (United States)

Wood, E N; Lysons, R J

1988-03-19

Swine dysentery was eradicated from a 270 sow herd by using medication in conjunction with cleaning and disinfection, without reducing the herd size. The feed conversion efficiency, cost per kg liveweight gain and veterinary costs in the herd were compared with similar Meat and Livestock Commission recorded herds before swine dysentery entered the farm, while it was present and after its eradication. During the four years when the disease was endemic in the herd the feed conversion efficiency deteriorated by 0.58, equivalent to 7.31 pounds per pig, the cost per kg liveweight gain was 15 per cent higher and the costs of veterinary care and medicines were 1.38 pounds per pig greater. Although there were pigs with clinical swine dysentery in the herd during the four year period, the poor production figures were attributed mainly to subclinical disease. The cost of eradicating the disease was more than 20,000 pounds but this sum was recouped within 12 months by the improved production and reduced drug usage. The chances of success of such a programme have been estimated to be between 54 and 90 per cent.

(Epidemic of bacillary dysentery)

Energy Technology Data Exchange (ETDEWEB)

Auger, P.; Pouliot, B.; De Grace, M.; Milot, C.; Lafortune, M.; Bergeron, Z.

1981-10-01

An outbreak of bacillary dysentery in 1978 affecting 928 persons, most of whom were living in the village of St-Jacques, PQ, is described. An epidemiologic study suggested the water supply as the source of the infection, and it was established that the water carried by the municipal aqueduct was contaminated by feces containing the causal agent, Shigella sonnei. This epidemic, the largest mentioned in he Canadian medical literature, demonstrates how contagious this infection is.

Spatiotemporal Risk of Bacillary Dysentery and Sensitivity to Meteorological Factors in Hunan Province, China

Directory of Open Access Journals (Sweden)

Chengdong Xu

2017-12-01

Full Text Available Bacillary dysentery remains a public health concern in the world. Hunan Province is one of the provinces having the highest risk of bacillary dysentery in China, however, the spatial-temporal distribution, variation of bacillary dysentery and sensitivity to meteorological factors in there are unclear. In this paper, a Bayesian space-time hierarchical model (BSTHM was used to detect space-time variation, and effects of meteorological factors between 2010 and 2015. The risk of bacillary dysentery showed apparent spatial-temporal heterogeneity. The highest risk occurred in the summer season. Economically undeveloped mountainous areas in the west and south of the province had the highest incidence rates. Twenty three (18.9% and 20 (16.4% counties were identified as hot and cold spots, respectively. Among the hotspots, 11 counties (47.8% exhibited a rapidly decreasing trend, suggesting they may become low-risk areas in the future. Of the cold spot counties, six (30% showed a slowly decreasing trend, and may have a higher risk in the future. Among meteorological factors, air temperature, relative humidity, and wind speed all played a significant role in the spatial-temporal distribution of bacillary dysentery risk. These findings can contribute to the implementation of an early warning system for controlling and preventing bacillary dysentery.

Uptake of benzimidazoles by Trichuris suis in vivo in pigs

DEFF Research Database (Denmark)

Hansen, Tina Vicky Alstrup; Friis, Christian; Nejsum, Peter

2014-01-01

It is recognized that the clinical efficacy of single dose benzimidazoles (BZs) against the nematode, Trichuris suis of pigs and the closely related Trichuris trichiura in humans is only poor to moderate. Recent in vitro studies have indicated that a low uptake of fenbendazole (FBZ) in T. suis may...

Epidemiologic Investigation of Dysentery in North of Iran: Use of Geographic Information System (GIS)

Science.gov (United States)

Nadi, Aliasghar; Abedi, Ghassem; Isazadeh, Khatoon; Rostami, Farideh; Siamian, Hasan; Hosseini, Mahbobeh; Asadi-Aliabadi, Mehran

2016-01-01

Introduction: Dysentery is an intestinal inflammation which is created by the microorganisms attacking intestine mucus. Knowing the prevalence of this disease in different societies paves the way for programming and providing treatment and preventive measures. The main purpose of this study is to investigate the epidemiologic pattern and geographical distribution of dysentery based on GIS. Method: This was a cross-sectional and analytical study. The dysentery cases were gathered from the section of contagious diseases in health chancellery of Mazandaran University of medical sciences through a checklist during the years 2008 to 2013. In order to analyze the data, we made use of chi-square test. Then, the GIS software was used to recognize the geographical distribution of the disease. Findings: There was reported about 653 cases affected by dysentery and the disease proportion was equal for both men and women. Most of the persons with dysentery was city dwellers. The highest rate of incidents was reported to be in Fereidunkenar in 2011, and the disease was mostly found among farmers, students, and college students. Conclusion: Since dysentery is a disease transmitted from water and food, and in this study, it was found out that the disease sources included using polluted water, vegetables, and lack of appropriate personal hygiene. Therefore, it is essential to take into consideration the health issues. Moreover, the suitable conditions of the geographical area which has the highest rate of incident have paved the way for dysentery occurrence. In addition, using geographic information system (GIS) as a visual instrument can help the stakeholders and officials to elaborate on the death trend and recognize the areas for optimal use of the available resources. PMID:28144197

Trichuris and hookworm infections associated with anaemia during pregnancy.

Science.gov (United States)

Gyorkos, Theresa W; Gilbert, Nicolas L; Larocque, Renée; Casapía, Martín

2011-04-01

To assess the following associations between the second and third trimesters of pregnancy: (i) the intensity of soil-transmitted helminth (STH) infection and haemoglobin/anaemia, (ii) the effect of mebendazole treatment on the occurrence of STH infection, and (iii) the effect of mebendazole treatment on haemoglobin/anaemia. Data originated from a trial of 1042 pregnant women recruited in their second trimester and followed to delivery. Baseline assessments included socio-demographic/health information from questionnaires, haemoglobin/anaemia from HemoCue ascertainment of fingerprick blood, and the presence and intensity of STH (Ascaris lumbricoides, hookworms and Trichuris trichiura) infections from Kato-Katz examination. All women were given iron supplements; half were randomly allocated to receive single dose 500 mg mebendazole, and half, placebo. Haemoglobin/anaemia and STH infection status were determined again in the third trimester of pregnancy. Complete information was available from 935 (89.7%) women. Mebendazole significantly reduced the prevalence and intensity of all three STH infections. Higher intensities of hookworm and Trichuris infections in the second trimester were associated with a higher risk of anaemia in the third trimester. Overall, women with moderate/heavy Trichuris infection were found to be at a higher risk of anaemia; the highest risk was observed among those with moderate/heavy hookworm co-infection (adjusted OR = 2.77; 95% CI: 1.26, 6.11). Mebendazole treatment did not reduce the risk of anaemia. Higher intensities of both Trichuris and hookworm infections are associated with anaemia in pregnancy. The importance of Trichuris infections during pregnancy requires renewed attention. © 2011 Blackwell Publishing Ltd.

Phylogenetic evidence that two distinct Trichuris genotypes infect both humans and non-human primates.

Directory of Open Access Journals (Sweden)

Damiana F Ravasi

Full Text Available Although there has been extensive debate about whether Trichuris suis and Trichuris trichiura are separate species, only one species of the whipworm T. trichiura has been considered to infect humans and non-human primates. In order to investigate potential cross infection of Trichuris sp. between baboons and humans in the Cape Peninsula, South Africa, we sequenced the ITS1-5.8S-ITS2 region of adult Trichuris sp. worms isolated from five baboons from three different troops, namely the Cape Peninsula troop, Groot Olifantsbos troop and Da Gama Park troop. This region was also sequenced from T. trichiura isolated from a human patient from central Africa (Cameroon for comparison. By combining this dataset with Genbank records for Trichuris isolated from other humans, non-human primates and pigs from several different countries in Europe, Asia, and Africa, we confirmed the identification of two distinct Trichuris genotypes that infect primates. Trichuris sp. isolated from the Peninsula baboons fell into two distinct clades that were found to also infect human patients from Cameroon, Uganda and Jamaica (named the CP-GOB clade and China, Thailand, the Czech Republic, and Uganda (named the DG clade, respectively. The divergence of these Trichuris clades is ancient and precedes the diversification of T. suis which clustered closely to the CP-GOB clade. The identification of two distinct Trichuris genotypes infecting both humans and non-human primates is important for the ongoing treatment of Trichuris which is estimated to infect 600 million people worldwide. Currently baboons in the Cape Peninsula, which visit urban areas, provide a constant risk of infection to local communities. A reduction in spatial overlap between humans and baboons is thus an important measure to reduce both cross-transmission and zoonoses of helminthes in Southern Africa.

Effects of the floods on dysentery in north central region of Henan Province, China from 2004 to 2009.

Science.gov (United States)

Ni, Wei; Ding, Guoyong; Li, Yifei; Li, Hongkai; Liu, Qiyong; Jiang, Baofa

2014-11-01

Zhengzhou, Kaifeng and Xinxiang, the cities in the north central region of Henan Province, suffered from many times floods from 2004 to 2009. We focused on dysentery disease consequences of floods and examined the association between floods and the morbidity of dysentery, based on a longitudinal data. A generalized additive mixed model was conducted to examine the relationship between the monthly morbidity of dysentery and floods from 2004 to 2009 in the study areas. The relative risks (RRs) of the floods risk on the morbidity of dysentery were estimated in each city and the whole region. The RRs on dysentery were 11.47 (95% CI: 8.67-15.33), 1.35 (95% CI: 1.23-3.90) and 2.75 (95% CI: 1.36-4.85) in Kaifeng, Xinxiang and Zhengzhou, respectively. The RR on dysentery in the whole region was 1.66 (95% CI: 1.52-1.82). Our study confirms that flooding has significantly increased the risk of dysentery in the study areas. Additionally, we observed that a sudden and severe flooding can contribute more risk to the morbidity of dysentery than a persistent and moderate flooding. Our findings have significant implications for developing strategies to prevent and reduce health impact of floods. Copyright © 2014 The Authors. Published by Elsevier Ltd.. All rights reserved.

Diagnosis of swine dysentery: spirochaetes which may be confused with Treponema hyodysenteriae.

Science.gov (United States)

Hudson, M J; Alexander, T J; Lysons, R J

Spirochaetes, designated PWS, microscopically resembling Treponema hyodysenteriae, were isolated from the colon contents of pigs with post-weaning scours from three herds, which on clinical and epidemiological grounds were thought to be free from swine dysentery. One of the isolates was fed to pigs experimentally but no evidence of disease was noted. Their cultural characteristics differed from those of T hyodysenteriae but they were similar to those of a non-pathogenic spirachaete (4/71) which had been isolated previously from the laboratory's dysentery-free herd. Smears prepared from cultures of the PWS spirochaete, 4/71 and two virulent and one avirulent strain of T hyodysenteriae were all positive to a fluorescent antibody test which was in use as an aid to the diagnosis of swine dysentery in the United Kingdom.

Glucose Absorption by the Bacillary Band of Trichuris muris.

Directory of Open Access Journals (Sweden)

Tina V A Hansen

2016-09-01

Full Text Available A common characteristic of Trichuris spp. infections in humans and animals is the variable but low efficacy of single-dose benzimidazoles currently used in mass drug administration programmes against human trichuriasis. The bacillary band, a specialised morphological structure of Trichuris spp., as well as the unique partly intracellular habitat of adult Trichuris spp. may affect drug absorption and perhaps contribute to the low drug accumulation in the worm. However, the exact function of the bacillary band is still unknown.We studied the dependency of adult Trichuris muris on glucose and/or amino acids for survival in vitro and the absorptive function of the bacillary band. The viability of the worms was evaluated using a motility scale from 0 to 3, and the colorimetric assay Alamar Blue was utilised to measure the metabolic activity. The absorptive function of the bacillary band in living worms was explored using a fluorescent glucose analogue (6-NBDG and confocal microscopy. To study the absorptive function of the bacillary band in relation to 6-NBDG, the oral uptake was minimised or excluded by sealing the oral cavity with glue and agarose.Glucose had a positive effect on both the motility (p < 0.001 and metabolic activity (p < 0.001 of T. muris in vitro, whereas this was not the case for amino acids. The 6-NBDG was observed in the pores of the bacillary band and within the stichocytes of the living worms, independent of oral sealing.Trichuris muris is dependent on glucose for viability in vitro, and the bacillary band has an absorptive function in relation to 6-NBDG, which accumulates within the stichocytes. The absorptive function of the bacillary band calls for an exploration of its possible role in the uptake of anthelmintics, and as a potential anthelmintic target relevant for future drug development.

Glucose Absorption by the Bacillary Band of Trichuris muris

DEFF Research Database (Denmark)

Hansen, Tina Vicky Alstrup; Hansen, Michael; Nejsum, Peter

2016-01-01

Background A common characteristic of Trichuris spp. infections in humans and animals is the variable but low efficacy of single-dose benzimidazoles currently used in mass drug administration programmes against human trichuriasis. The bacillary band, a specialised morphological structure of Trich......Background A common characteristic of Trichuris spp. infections in humans and animals is the variable but low efficacy of single-dose benzimidazoles currently used in mass drug administration programmes against human trichuriasis. The bacillary band, a specialised morphological structure...

Plants used for treatment of dysentery and diarrhoea by the Bhoxa community of district Dehradun, Uttarakhand, India.

Science.gov (United States)

Gairola, Sumeet; Sharma, Jyotsana; Gaur, R D; Siddiqi, T O; Painuli, R M

2013-12-12

Dysentery and diarrhoea are major causes of morbidity and mortality in rural communities of developing world. The Bhoxa community is an important primitive indigenous community of Uttarakhand, India. In this paper we have tried to scientifically enumerate ethnomedicinal plants and herbal preparations used by Bhoxa community to treat dysentery and diarrhoea, and discuss their antidiarrhoeal properties in the light of previous ethnomedicinal, pharmacological, microbiological and phytochemical studies. To record plants and herbal preparations used by Bhoxa community of district Dehradun, Uttarakhand, India in treatment of dysentery and diarrhoea, and to discuss antidiarrhoeal and antimicrobial properties of the recorded plants. Ethnomedicinal survey was conducted in different villages of Bhoxa community located in district Dehradun, Uttarakhand, India. Thirty Bhoxa traditional healers were interviewed to collect information on plants used by them for treating dysentery and diarrhoea. For each of the recorded plant species the use value (UV) and fidelity level (FL) was calculated. Detailed literature survey was conducted to summarize ethnomedicinal, pharmacological, microbiological and phytochemical information on the medicinal plants listed in the present study. Fifty medicinal plants (45 genera and 30 families) were used by Bhoxa community to treat dysentery and diarrhoea, among which 27 species were used for dysentery, 41 for diarrhoea and 18 for both dysentery and diarrhoea. Three plants viz., Dioscorea bulbifera L., Euphorbia thymifolia L. and Prunus persica (L.) Stokes, recorded in the present survey have been reported for the first time in treatment of dysentery and diarrhoea by any indigenous communities in India. FL and UV values revealed that most preferred species for the treatment of dysentery and diarrhoea by Bhoxa community are Euphorbia hirta L. followed by Holarrhena pubescens Wall., Helicteres isora L. and Cassia fistula L. Earlier pharmacological

16S partial gene mitochondrial DNA and internal transcribed spacers ribosomal DNA as differential markers of Trichuris discolor populations.

Science.gov (United States)

Callejón, R; Halajian, A; de Rojas, M; Marrugal, A; Guevara, D; Cutillas, C

2012-05-25

Comparative morphological, biometrical and molecular studies of Trichuris discolor isolated from Bos taurus from Spain and Iran was carried out. Furthermore, Trichuris ovis isolated from B. taurus and Capra hircus from Spain has been, molecularly, analyzed. Morphological studies revealed clear differences between T. ovis and T. discolor isolated from B. taurus but differences were not observed between populations of T. discolor isolated from different geographical regions. Nevertheless, the molecular studies based on the amplification and sequencing of the internal transcribed spacers 1 and 2 ribosomal DNA and 16S partial gene mitochondrial DNA showed clear differences between both populations of T. discolor from Spain and Iran suggesting two cryptic species. Phylogenetic studies corroborated these data. Thus, phylogenetic trees based on ITS1, ITS2 and 16S partial gene sequences showed that individuals of T. discolor from B. taurus from Iran clustered together and separated, with high bootstrap values, of T. discolor isolated from B. taurus from Spain, while populations of T. ovis from B. taurus and C. hircus from Spain clustered together but separated with high bootstrap values of both populations of T. discolor. Furthermore, a comparative phylogenetic study has been carried out with the ITS1and ITS2 sequences of Trichuris species from different hosts. Three clades were observed: the first clustered all the species of Trichuris parasitizing herbivores (T. discolor, T. ovis, Trichuris leporis and Trichuris skrjabini), the second clustered all the species of Trichuris parasitizing omnivores (Trichuris trichiura and Trichuris suis) and finally, the third clustered species of Trichuris parasitizing carnivores (Trichuris muris, Trichuris arvicolae and Trichuris vulpis). Copyright © 2011 Elsevier B.V. All rights reserved.

Molecular diversification of Trichuris spp. from Sigmodontinae (Cricetidae) rodents from Argentina based on mitochondrial DNA sequences.

Science.gov (United States)

Callejón, Rocío; Robles, María Del Rosario; Panei, Carlos Javier; Cutillas, Cristina

2016-08-01

A molecular phylogenetic hypothesis is presented for the genus Trichuris based on sequence data from mitochondrial cytochrome c oxidase 1 (cox1) and cytochrome b (cob). The taxa consisted of nine populations of whipworm from five species of Sigmodontinae rodents from Argentina. Bayesian Inference, Maximum Parsimony, and Maximum Likelihood methods were used to infer phylogenies for each gene separately but also for the combined mitochondrial data and the combined mitochondrial and nuclear dataset. Phylogenetic results based on cox1 and cob mitochondrial DNA (mtDNA) revealed three clades strongly resolved corresponding to three different species (Trichuris navonae, Trichuris bainae, and Trichuris pardinasi) showing phylogeographic variation, but relationships among Trichuris species were poorly resolved. Phylogenetic reconstruction based on concatenated sequences had greater phylogenetic resolution for delimiting species and populations intra-specific of Trichuris than those based on partitioned genes. Thus, populations of T. bainae and T. pardinasi could be affected by geographical factors and co-divergence parasite-host.

Morphological and Genetic Diversity of Trichuris spp. recovered from Humans and Pigs

DEFF Research Database (Denmark)

Nissen, Sofie; Nejsum, Peter; Christensen, Henrik

2009-01-01

The nematodes, Trichuris suis and Trichuris trichiura are believed to be two separate but closely related species. The aim of our study was to examine the morphological and genetic diversity of Trichuris spp. recovered from pigs and humans. Sympatric worm material isolated from 10 humans and 5 pigs...... found in pig-derived worms (31% of the human-derived worms, consensus sequence 531 nucleotides long). The results indicated that the nematodes found in pigs belong to a genetically distinct species (T. suis) whereas the nematodes in humans showed considerable genetic variability either related...... to ancestral polymorphism or more recent cross-breeding between T. trichiura and T. suis....

Investigating the effects of climate variations on bacillary dysentery incidence in northeast China using ridge regression and hierarchical cluster analysis

Directory of Open Access Journals (Sweden)

Guo Junqiao

2008-09-01

Full Text Available Abstract Background The effects of climate variations on bacillary dysentery incidence have gained more recent concern. However, the multi-collinearity among meteorological factors affects the accuracy of correlation with bacillary dysentery incidence. Methods As a remedy, a modified method to combine ridge regression and hierarchical cluster analysis was proposed for investigating the effects of climate variations on bacillary dysentery incidence in northeast China. Results All weather indicators, temperatures, precipitation, evaporation and relative humidity have shown positive correlation with the monthly incidence of bacillary dysentery, while air pressure had a negative correlation with the incidence. Ridge regression and hierarchical cluster analysis showed that during 1987–1996, relative humidity, temperatures and air pressure affected the transmission of the bacillary dysentery. During this period, all meteorological factors were divided into three categories. Relative humidity and precipitation belonged to one class, temperature indexes and evaporation belonged to another class, and air pressure was the third class. Conclusion Meteorological factors have affected the transmission of bacillary dysentery in northeast China. Bacillary dysentery prevention and control would benefit from by giving more consideration to local climate variations.

The Effects of Floods on the Incidence of Bacillary Dysentery in Baise (Guangxi Province, China) from 2004 to 2012.

Science.gov (United States)

Liu, Xuena; Liu, Zhidong; Zhang, Ying; Jiang, Baofa

2017-02-12

Research shows potential effects of floods on intestinal infections. Baise, a city in Guangxi Province (China) had experienced several floods between 2004 and 2012 due to heavy and constant precipitation. This study aimed to examine the relationship between floods and the incidence of bacillary dysentery in Baise. A mixed generalized additive model and Spearman correlation were applied to analyze the relationship between monthly incidence of bacillary dysentery and 14 flood events with two severity levels. Data collected from 2004 to 2010 were utilized to estimate the parameters, whereas data from 2011 to 2012 were used to validate the model. There were in total 9255 cases of bacillary dysentery included in our analyses. According to the mixed generalized additive model, the relative risks (RR) of moderate and severe floods on the incidence of bacillary dysentery were 1.40 (95% confidence interval (CI): 1.16-1.69) and 1.78 (95% CI: 1.61-1.97), respectively. The regression analysis also indicated that the flood duration was negatively associated with the incidence of bacillary dysentery (with RR: 0.57, 95% CI: 0.40-0.86). Therfore, this research suggests that floods exert a significant part in enhancing the risk of bacillary dysentery in Baise. Moreover, severe floods have a higher proportional contribution to the incidence of bacillary dysentery than moderate floods. In addition, short-term floods may contribute more to the incidence of bacillary dysentery than a long-term flood. The findings from this research will provide more evidence to reduce health risks related to floods.

The Effects of Floods on the Incidence of Bacillary Dysentery in Baise (Guangxi Province, China from 2004 to 2012

Directory of Open Access Journals (Sweden)

Xuena Liu

2017-02-01

Full Text Available Research shows potential effects of floods on intestinal infections. Baise, a city in Guangxi Province (China had experienced several floods between 2004 and 2012 due to heavy and constant precipitation. This study aimed to examine the relationship between floods and the incidence of bacillary dysentery in Baise. A mixed generalized additive model and Spearman correlation were applied to analyze the relationship between monthly incidence of bacillary dysentery and 14 flood events with two severity levels. Data collected from 2004 to 2010 were utilized to estimate the parameters, whereas data from 2011 to 2012 were used to validate the model. There were in total 9255 cases of bacillary dysentery included in our analyses. According to the mixed generalized additive model, the relative risks (RR of moderate and severe floods on the incidence of bacillary dysentery were 1.40 (95% confidence interval (CI: 1.16–1.69 and 1.78 (95% CI: 1.61–1.97, respectively. The regression analysis also indicated that the flood duration was negatively associated with the incidence of bacillary dysentery (with RR: 0.57, 95% CI: 0.40–0.86. Therfore, this research suggests that floods exert a significant part in enhancing the risk of bacillary dysentery in Baise. Moreover, severe floods have a higher proportional contribution to the incidence of bacillary dysentery than moderate floods. In addition, short-term floods may contribute more to the incidence of bacillary dysentery than a long-term flood. The findings from this research will provide more evidence to reduce health risks related to floods.

Characterization of Trichuris skrjabini by isoenzyme gel electrophoresis: comparative study with Trichuris ovis.

Science.gov (United States)

Cutillas, C; German, P; Arias, P; Guevara, D

1996-10-01

Morphological and biometric studies were performed in Trichuris skrjabini (Baskakov, 1924) collected from the caecum of Capra hircus. The LDH (EC 1.1.1.27.), G6PD (EC 1.1.1.49.), GPI (EC 5.3.1.9.), MDH (EC 1.1.1.37) and malic enzyme (ME) (EC 1.1.1.40) isoenzymatic patterns of T. skrjabini were determined by starch gel electrophoresis. The G6PD and GPI isoenzymatic patterns of T. skrjabini displayed two anodic bands for both enzymes: one fast migration band and one band near the origin. This isoenzymatic pattern was interpreted as two gene loci encoding both enzymes. The LDH isoenzymatic pattern of T. skrjabini was characterized by the presence of a cathodically migrating band, while the MDH isoenzymatic pattern showed a very slow cathodic band. These two phenotypes were interpreted as the expression of a homozygous state of a gene locus for LDH and MDH in T. skrjabini. The ME isoenzymatic pattern was characterized by the presence of a single anodic band. Further, comparative isoenzymatic studies were carried out between T. skrjabini and T. ovis. The different G6PD, GPI, LDH, MDH and ME isoenzymatic patterns observed for both species allowed us to distinguish them and therefore to use isoenzymatic patterns as a diagnostic tool to differentiate species of Trichuris.

Corrigendum - Influence of Tiamulin Therapy on Weight Gain in Brachyspira Dysentery in Piglets

OpenAIRE

Alexandru O. Doma; Andreia B. Chirila; Eugenia Dumitrescu; Florin Muselin; ROMEO TEODOR CRISTINA

2014-01-01

In the article Influence of Tiamulin Therapy on Weight Gain in Brachyspira Dysentery in Piglets first published in Vol 47, No 1 in Scientific Papers: Animal Science and Biotechnologies, by a clerical error instead Novartis was presented Dopharma as producer of Tiamutin 10% oily injectable solution (1ml of solution containing 100 mg of tiamulin fumarate). This article corrects: Influence of Tiamulin Therapy on Weight Gain in Brachyspira Dysentery in Piglets Vol. 47, Issue 1, p....

Socio-economic factors of bacillary dysentery based on spatial correlation analysis in Guangxi Province, China.

Directory of Open Access Journals (Sweden)

Chengjing Nie

Full Text Available BACKGROUND: In the past decade, bacillary dysentery was still a big public health problem in China, especially in Guangxi Province, where thousands of severe diarrhea cases occur every year. METHODS: Reported bacillary dysentery cases in Guangxi Province were obtained from local Centers for Diseases Prevention and Control. The 14 socio-economic indexes were selected as potential explanatory variables for the study. The spatial correlation analysis was used to explore the associations between the selected factors and bacillary dysentery incidence at county level, which was based on the software of ArcGIS10.2 and GeoDA 0.9.5i. RESULTS: The proportion of primary industry, the proportion of younger than 5-year-old children in total population, the number of hospitals per thousand persons and the rates of bacillary dysentery incidence show statistically significant positive correlation. But the proportion of secondary industry, per capital GDP, per capital government revenue, rural population proportion, popularization rate of tap water in rural area, access rate to the sanitation toilets in rural, number of beds in hospitals per thousand persons, medical and technical personnel per thousand persons and the rate of bacillary dysentery incidence show statistically significant negative correlation. The socio-economic factors can be divided into four aspects, including economic development, health development, medical development and human own condition. The four aspects were not isolated from each other, but interacted with each other.

Intrafamilial person-to-person spread of bacillary dysentery due to ...

African Journals Online (AJOL)

BD) within families during a propagated outbreak of bacillary dysentery. Design: A retrospective cohort study. Setting: Eighteen neighbouring villages in rural Gizan, southwestern Saudi Arabia. Subjects: Two hundred and thirty three cases of ...

Blood concentrations of the cytokines IL-1beta, IL-6, IL-10, TNF-alpha and IFN-gamma during experimentally induced swine dysentery

Directory of Open Access Journals (Sweden)

Jensen-Waern Marianne

2008-08-01

Full Text Available Abstract Background Knowledge of the cytokine response at infection with Brachyspira hyodysenteriae can help understanding disease mechanisme involved during swine dysentery. Since this knowledge is still limited the aim of the present study was to induce dysentery experimentally in pigs and to monitor the development of important immunoregulatory cytokines in blood collected at various stages of the disease. Methods Ten conventional pigs (~23 kg were orally inoculated with Brachyspira hyodysenteriae B204T. Eight animals developed muco-haemorrhagic diarrhoea with impaired general body condition. Blood was sampled before inoculation and repeatedly during acute dysentery and recovery periods and cytokine levels of IL-1β, IL-6, Il-10, TNF-α and IFN-γ were measured by ELISA. Results IL-1β was increased at the beginning of the dysentery period and coincided with the appearance of Serum amyloid A and clinical signs of disease. TNF-α increased in all animals after inoculation, with a peak during dysentery, and IL-6 was found in 3 animals during dysentery and in the 2 animals that did not develop clinical signs of disease. IL-10 was found in all sick animals during the recovery period. IFN-γ was not detected on any occasion. Conclusion B. hyodysenteriae inoculation induced production of systemic levels of IL-1β during the dysentery period and increased levels of IL-10 coincided with recovery from dysentery.

Corrigendum - Influence of Tiamulin Therapy on Weight Gain in Brachyspira Dysentery in Piglets

Directory of Open Access Journals (Sweden)

Alexandru O. Doma

2014-05-01

Full Text Available In the article Influence of Tiamulin Therapy on Weight Gain in Brachyspira Dysentery in Piglets first published in Vol 47, No 1 in Scientific Papers: Animal Science and Biotechnologies, by a clerical error instead Novartis was presented Dopharma as producer of Tiamutin 10% oily injectable solution (1ml of solution containing 100 mg of tiamulin fumarate. This article corrects: Influence of Tiamulin Therapy on Weight Gain in Brachyspira Dysentery in Piglets Vol. 47, Issue 1, p. 372-376. Article first published online: 30 May 2014

Impacts of ambient temperature on the burden of bacillary dysentery in urban and rural Hefei, China.

Science.gov (United States)

Cheng, J; Xie, M Y; Zhao, K F; Wu, J J; Xu, Z W; Song, J; Zhao, D S; Li, K S; Wang, X; Yang, H H; Wen, L Y; Su, H; Tong, S L

2017-06-01

Bacillary dysentery continues to be a major health issue in developing countries and ambient temperature is a possible environmental determinant. However, evidence about the risk of bacillary dysentery attributable to ambient temperature under climate change scenarios is scarce. We examined the attributable fraction (AF) of temperature-related bacillary dysentery in urban and rural Hefei, China during 2006-2012 and projected its shifting pattern under climate change scenarios using a distributed lag non-linear model. The risk of bacillary dysentery increased with the temperature rise above a threshold (18·4 °C), and the temperature effects appeared to be acute. The proportion of bacillary dysentery attributable to hot temperatures was 18·74% (95 empirical confidence interval (eCI): 8·36-27·44%). Apparent difference of AF was observed between urban and rural areas, with AF varying from 26·87% (95% eCI 16·21-36·68%) in urban area to -1·90% (95 eCI -25·03 to 16·05%) in rural area. Under the climate change scenarios alone (1-4 °C rise), the AF from extreme hot temperatures (>31·2 °C) would rise greatly accompanied by the relatively stable AF from moderate hot temperatures (18·4-31·2 °C). If climate change proceeds, urban area may be more likely to suffer from rapidly increasing burden of disease from extreme hot temperatures in the absence of effective mitigation and adaptation strategies.

Reiters syndrome – a case report and review of literature | Alebiosu ...

African Journals Online (AJOL)

The occurrence of Reiter's Syndrome is rare and not commonly reported in Nigeria. This paper reports a case of a 35yr old male Nigerian with Reiter's Syndrome, occurring 1-2 weeks after a bout of a dysenteric illness. The patient presented with fever, conjunctivitis, dysentery, urethritis and arthralgia. The joint pains ...

The changing epidemiology of bacillary dysentery and characteristics of antimicrobial resistance of Shigella isolated in China from 2004-2014.

Science.gov (United States)

Chang, Zhaorui; Zhang, Jing; Ran, Lu; Sun, Junling; Liu, Fengfeng; Luo, Li; Zeng, Lingjia; Wang, Liping; Li, Zhongjie; Yu, Hongjie; Liao, Qiaohong

2016-11-18

Bacillary dysentery caused by bacteria of the genus Shigella is a significant public health problem in developing countries such as China. The objective of this study was to analyze the epidemiological pattern of bacillary dysentery, the diversity of the causative agent, and the antimicrobial resistance patterns of Shigella spp. for the purpose of determining the most effective allocation of resources and prioritization of interventions. Surveillance data were acquired from the National Infectious Disease Information Reporting System (2004-2014) and from the sentinel hospital-based surveillance system (2005-2014). We analyzed the spatial and temporal distribution of bacillary dysentery, age and sex distribution, species diversity, and antimicrobial resistance patterns of Shigella spp. The surveillance registry included over 3 million probable cases of bacillary dysentery during the period 2004-2014. The annual incidence rate of bacillary dysentery decreased from 38.03 cases per 100,000 person-years in 2004 to 11.24 cases per 100,000 person-years in 2014. The case-fatality rate decreased from 0.028% in 2004 to 0.003% in 2014. Children aged Shigella flexneri was the most prevalent species that caused bacillary dysentery in China (63.86%), followed by Shigella sonnei (34.89%). Shigella isolates were highly resistant to nalidixic acid (89.13%), ampicillin (88.90%), tetracycline (88.43%), and sulfamethoxazole (82.92%). During the study period, isolates resistant to ciprofloxacin and cefotaxime increased from 8.53 and 7.87% in 2005 to 44.65 and 29.94% in 2014, respectively. The incidence rate of bacillary dysentery has undergone an obvious decrease from 2004 to 2014. Priority interventions should be delivered to populations in northwest China and to individuals aged Shigella is a serious public health problem and it is important to consider the susceptibility profile of isolates before determining treatment.

Studies on antigenic cross-reactivity of Trichuris ovis with host mucosal antigens in goat

OpenAIRE

Gautam Patra; Seikh Sahanawaz Alam; Sonjoy Kumar Borthakur; Hridayesh Prasad

2015-01-01

Objective: To ascertain whether immunodominant antigens of Trichuris ovis might share and cross react with host molecule. Methods: Two crude protein preparations from anterior and posterior parts of Trichuris ovis were characterized along with host mucosal antigen by double immunodiffusion, sodium dodecyl sulfate-polyacrylamide gel electrophoresis and western blotting technique. Conventional scanning electron microscopy was performed as per standard procedure. Results: Sharp...

The changing epidemiology of bacillary dysentery and characteristics of antimicrobial resistance of Shigella isolated in China from 2004–2014

Directory of Open Access Journals (Sweden)

Zhaorui Chang

2016-11-01

Full Text Available Abstract Background Bacillary dysentery caused by bacteria of the genus Shigella is a significant public health problem in developing countries such as China. The objective of this study was to analyze the epidemiological pattern of bacillary dysentery, the diversity of the causative agent, and the antimicrobial resistance patterns of Shigella spp. for the purpose of determining the most effective allocation of resources and prioritization of interventions. Methods Surveillance data were acquired from the National Infectious Disease Information Reporting System (2004–2014 and from the sentinel hospital-based surveillance system (2005–2014. We analyzed the spatial and temporal distribution of bacillary dysentery, age and sex distribution, species diversity, and antimicrobial resistance patterns of Shigella spp. Results The surveillance registry included over 3 million probable cases of bacillary dysentery during the period 2004–2014. The annual incidence rate of bacillary dysentery decreased from 38.03 cases per 100,000 person-years in 2004 to 11.24 cases per 100,000 person-years in 2014. The case-fatality rate decreased from 0.028% in 2004 to 0.003% in 2014. Children aged <1 year and 1–4 years were most affected, with higher incidence rates (228.59 cases per 100,000 person-years and 92.58 cases per 100,000 person-years respectively. The annual epidemic season occurred between June and September. A higher incidence rate of bacillary dysentery was found in the Northwest region, Beijing and Tianjin during the study period. Shigella flexneri was the most prevalent species that caused bacillary dysentery in China (63.86%, followed by Shigella sonnei (34.89%. Shigella isolates were highly resistant to nalidixic acid (89.13%, ampicillin (88.90%, tetracycline (88.43%, and sulfamethoxazole (82.92%. During the study period, isolates resistant to ciprofloxacin and cefotaxime increased from 8.53 and 7.87% in 2005 to 44.65 and 29.94% in 2014

A cytotoxic haemolysin from Treponema hyodysenteriae--a probable virulence determinant in swine dysentery.

Science.gov (United States)

Lysons, R J; Kent, K A; Bland, A P; Sellwood, R; Robinson, W F; Frost, A J

1991-02-01

The haemolysin from a virulent strain of Treponema hyodysenteriae was extracted and injected into ligated loops of the ileum and colon of germ-free pigs. It caused severe epithelial damage, especially to the differentiated cells at the tips of the villi in the ileum and the cells in the intercrypt zones of the colon; goblet cells were less affected. The changes in the colon were similar to those seen in natural cases of swine dysentery. The ligated loop offers a means of investigating pathogenic mechanisms and the mode of action of the toxin. This study demonstrated that the haemolysin was a potent cytotoxin for pig enterocytes, and a probable virulence determinant in swine dysentery.

The Etiology and Pathogenesis of Hepatitis and Liver Cirrhosis under the Influence of Dysentery Toxin

Directory of Open Access Journals (Sweden)

L.A. Alimova

2015-09-01

Full Text Available Chronic intoxication of white rats by intravenous administration of dysentery toxin causes in animals within 2–4 months the development of liver cirrhosis. A particularly intensive development of cirrhosis is observed in simultaneous application of dysentery toxin and very low doses of heliotrope containing hepatotoxic alkaloids. Heliotrope was added to the food for animals and was given once in 7 days. The research results are considered as an evidence of the etiologic role of chronic toxic-infectious intestinal diseases in the development of liver cirrhosis.

Differential clinical features and stool findings in shigellosis and amoebic dysentery

NARCIS (Netherlands)

Speelman, P.; McGlaughlin, R.; Kabir, I.; Butler, T.

1987-01-01

To obtain information that could assist the clinician to differentiate between shigellosis and amoebic dysentery, we compared clinical features and stool findings in 58 adult male patients in Bangladesh. Mean values indicated that patients with invasive amoebiasis were older and had a longer

Therapeutic effects of various concentrations of lincomycin in drinking water on experimentally transmitted swine dysentery.

Science.gov (United States)

Hamdy, A H

1978-07-01

Three experimental studies were conducted in 232 growing pigs (8 to 12 weeks old) to evaluate the therapeutic effects of various concentrations of lincomycin in drinking water, against swine dysentery experimentally transmitted, by oral inoculation or by contact-commingling exposure. Four or 5 concentrations of lincomycin were used in each experiment (132, 66, 33, 16.5 or 0.0 mg/L of drinking water). Medication was initiated 7 to days after exposure and was continued for 6 to 10 days. Both methods of exposure were capable of transmitting the disease successfully. A more marked dose response was noticed in pigs inoculated orally than in pigs that were exposed by contact. All concentrations of lincomycin were effective for the treatment of swine dysentery by oral or by contact exposure. At the smaller concentration of 16.5 mg/L of drinking water, lincomycin was less effective for treating the disease than it was at greater concentrations. The suggested optimal concentration was 33 mg of lincomycin/L of drinking water for the treatment of swine dysentery.

Redescripción de Trichuris ovis (Nematoda) (Abildgaard, 1795) parásito de Ovis aries (Linné, 1758) y Capra hircus...

OpenAIRE

Oliveros, R; Cutillas Barrios, Cristina

2003-01-01

Los estudios taxonómicos previos llevados a cabo en el género Trichuris. confirman la sinon imia de Trichuris avis (Abildgaard, 1795) y Trichuris glabulasa (Von Linstow, 1901), aceptándose como única especie válida a Trichuris avis (Abildgaard, 1795). Es por ello que hemos querido realizar una redescripción de esta especie parásita de ovinos, teniendo en cuenta las características morfológicas y biométricas citadas hasta el momento en la bibliografía consultada, incluyendo aquellos d...

Application of Poisson kriging to the mapping of cholera and dysentery incidence in an endemic area of Bangladesh

Directory of Open Access Journals (Sweden)

Haq M Zahirul

2006-10-01

Full Text Available Abstract Background Disease maps can serve to display incidence rates geographically, to inform on public health provision about the success or failure of interventions, and to make hypothesis or to provide evidences concerning disease etiology. Poisson kriging was recently introduced to filter the noise attached to rates recorded over sparsely populated administrative units. Its benefit over simple population-weighted averages and empirical Bayesian smoothers was demonstrated by simulation studies using county-level cancer mortality rates. This paper presents the first application of Poisson kriging to the spatial interpolation of local disease rates, resulting in continuous maps of disease rate estimates and the associated prediction variance. The methodology is illustrated using cholera and dysentery data collected in a cholera endemic area (Matlab of Bangladesh. Results The spatial analysis was confined to patrilineally-related clusters of households, known as baris, located within 9 kilometers from the Matlab hospital to avoid underestimating the risk of disease incidence, since patients far away from the medical facilities are less likely to travel. Semivariogram models reveal a range of autocorrelation of 1.1 km for dysentery and 0.37 km for cholera. This result translates into a cholera risk map that is patchier than the dysentery map that shows a large zone of high incidence in the south-central part of the study area, which is quasi-urban. On both maps, lower risk values are found in the Northern part of the study area, which is also the most distant from the Matlab hospital. The weaker spatial continuity of cholera versus dysentery incidence rates resulted in larger kriging variance across the study area. Conclusion The approach presented in this paper enables researchers to incorporate the pattern of spatial dependence of incidence rates into the mapping of risk values and the quantification of the associated uncertainty. Differences

The anthelmintic efficacy of fenbendazole in the control of Moniezia expansa and Trichuris ovis in sheep.

Science.gov (United States)

Townsend, R B; Kelly, J D; James, R; Weston, I

1977-11-01

The anthelmintic efficacy of fenbendazole (methyl 5-(phenyl-thio)-2-benzimidazole-carbamate) against Moniezia expansa and Trichuris ovis was tested. At dose rates of 5 mg per kg and above, efficacies were found to be greater than 91 percent against M expansa and greater than 92 per cent against T ovis. At these dose rates efficacy on egg suppression was 100 per cent for Moniezia and greater than 97 per cent for Trichuris.

Morphologic, biometric, and isoenzyme characterization of Trichuris suis.

Science.gov (United States)

Oliveros, R; Cutillas, C; Arias, P; Guevara, D

1998-06-01

Trichuris suis isolates were collected from the cecum of Sus scrofa domestica (pig) and S. s. scrofa (wild boar). Morphology and biometry studies were carried out. Morphology studies showed the existence of typical caudal papillae in males of T. suis from wild boars, but no other difference was observed in the biometric parameters (total length, esophageal length, posterior-portion body length, and spicular length) of T. suis isolated from either host. Individual extracts were subjected to malate dehydrogenase (MDH), malic enzyme (ME), glucose 6-phosphate dehydrogenase (G6PD), lactate dehydrogenase (LDH), and superoxide dismutase (SOD) isoenzyme analysis following starch-gel electrophoresis, and the isoenzyme patterns were compared with those obtained from other species of trichurids. MDH, ME, G6PD, LDH, and SOD isoenzyme patterns were identical for T. suis from both hosts. MDH isoenzyme patterns were characterized by the presence of one cathodic isoenzyme. ME, G6PD, and LDH isoenzyme patterns indicated the presence of three phenotypes, whereas the SOD isoenzyme pattern showed only one phenotype characterized by the existence of two (anodic and cathodic) bands. Different LDH and SOD isoenzyme patterns observed for T. suis, T. ovis, and T. skrjabini confirm once more that isoenzyme patterns have potential as a diagnostic tool for differentiation of different species of Trichuris.

Trichuris suis ova therapy for allergic rhinitis

DEFF Research Database (Denmark)

Bager, Peter; Arnved, John; Rønborg, Steen

2010-01-01

Parasitic helminth infections can protect against allergic airway inflammation in experimental models and have been associated with a reduced risk of atopy and a reduced course of asthma in some observational studies. Although no clinical evidence exists to support the use of helminth therapy...... for allergic disease, the helminth Trichuris suis has demonstrated efficacy in treatment of inflammatory bowel disease....

Pathway of oxfendazole from the host into the worm: Trichuris suis in pigs

Directory of Open Access Journals (Sweden)

Tina V.A. Hansen

2017-12-01

Full Text Available It is well known that the efficacy of a single oral dose of benzimidazoles against Trichuris spp. infections in humans and animals is poor, but is currently still used in control programmes against human trichuriasis. However, the route of the benzimidazoles from the treated host to Trichuris remains unknown. As parts of adult Trichuris are situated intracellularly in the caecum, they might be exposed to anthelmintic drugs in the intestinal content as well as the mucosa. In this study, the pathway of oxfendazole and its metabolites was explored using a T. suis-pig infection model, by simultaneously measuring drug concentrations within the worms and the caecal mucosa, caecal tissue, caecal content and plasma of pigs over time after a single oral dose of 5 mg/kg oxfendazole. Additionally, for comparison to the in vivo study, drug uptake and metabolism of oxfendazole by T. suis was examined after in vitro incubation. Oxfendazole and metabolites were quantified by High Performance Liquid Chromatography.Multivariate linear regression analysis showed a strong and highly significant association between OFZ concentrations within T. suis and in plasma, along with a weaker association between OFZ concentrations in caecal tissue/mucosa and T. suis, suggesting that oxfendazole reaches T. suis after absorption from the gastrointestinal tract and enters the worms by the blood-enterocyte pathway. The fenbendazole sulfone level in T. suis was highly affected by the concentrations in plasma. In addition, correlations between drug concentrations in the host compartments, were generally highest for this metabolite. In comparison to oxfendazole, the correlation between plasma and content was particularly high for this metabolite, suggesting a high level of drug movement between these compartments and the possible involvement of the enterohepatic circulation. Keywords: Trichuris, Benzimidazole, Drug efficacy, Drug pathway

Association of Serpulina hyodysenteriae with the colonic mucosa in experimental swine dysentery studied by fluorescent in situ hybridization

DEFF Research Database (Denmark)

Jensen, Tim Kåre; Boye, Mette; Møller, Kristian

1998-01-01

The localization of Serpulina hyodysenteriae in experimental swine dysentery was studied by fluorescent in situ hybridization (FISH) using an oligonucleotide probe targeting the 23S rRNA of S. hyodysenteriae. Nine 8-week-old pigs were challenged. Seven of the pigs were intragastrically dosed with 1......x10(9) cfu S. hyodysenteriae for 3 consecutive days, whereas two pigs were infected by contact. Six non-challenged pigs served as negative controls. The challenged pigs developed clinical swine dysentery from 8 to 14 days postinfection with typical gross lesions. By FISH S. hyodysenteriae cells...

Long-term occurrence of Trichuris species in wild ruminants in the Czech Republic.

Science.gov (United States)

Nechybová, Stanislava; Vejl, Pavel; Hart, Vlastimil; Melounová, Martina; Čílová, Daniela; Vašek, Jakub; Jankovská, Ivana; Vadlejch, Jaroslav; Langrová, Iva

2018-05-02

The aim of this study was to identify Trichuris species in wild ruminants from 32 localities in the Czech Republic using morphological and molecular methods (ITS1-5.8S RNA-ITS2 region polymorphisms). Trichurids were obtained from 176 wild ruminants (roe deer, sika deer, red deer, fallow deer and mouflons) that were culled between 2009 and 2017. Trichuris discolor is the predominant trichurid of all of the above-mentioned wild ruminants, whereas Trichuris ovis was identified less frequently in roe deer, fallow deer, sika deer and mouflons. Red deer were parasitised exclusively by T. discolor. Young hosts under 1 year of age were more intensively infected by trichurids than were adults (χ 2  = 32.02, p = 0.00). Trichurid prevalence results obtained through coprological methods and those based on parasitological dissections differed significantly (χ 2  = 16.26, p = 0.00). The regression analysis indicated that the eggs per gram (EPG) threshold (20 EPG) was exceeded only if the host was parasitised by more than 7 trichurid females. Full concordance between the positive results obtained by the coprological methods and those obtained via direct dissections was achieved when the number of trichurid females per host exceeded 51.

Population dynamics of Trichuris suis in trickle-infected pigs.

Science.gov (United States)

Nejsum, P; Thamsborg, S M; Petersen, H H; Kringel, H; Fredholm, M; Roepstorff, A

2009-05-01

The population dynamics of Trichuris suis in pigs was studied during long-term experimental infections. Twenty-three 10-week-old pigs were inoculated with 5 T. suis eggs/kg/day. Seven, 8, and 8 pigs were necropsied at weeks 4, 8, and 14 post-start of infection (p.i.), respectively. The median numbers of worms in the colon were 538 (min-max: 277-618), 332 (14-1140) and 0 (0-4) at 4, 8, and 14 weeks p.i. respectively, suggesting an increased aggregation of the worms with time and acquisition of nearly sterile immunity. The serum levels of T. suis specific antibodies (IgG1, IgG2 and IgA) peaked at week 8 p.i. By week 14 p.i. the IgG2 and IgA antibody levels remained significantly elevated above the level of week 0. The population dynamics of T. suis trickle infections in pigs is discussed with focus on interpretation of diagnostic and epidemiological data of pigs, the use of pigs as a model for human Trichuris trichiura infections and the novel approach of using T. suis eggs in the treatment of patients with inflammatory bowel disease.

Failure of Syndrome-Based Diarrhea Management Guidelines to Detect Shigella Infections in Kenyan Children.

Science.gov (United States)

Pavlinac, P B; Denno, D M; John-Stewart, G C; Onchiri, F M; Naulikha, J M; Odundo, E A; Hulseberg, C E; Singa, B O; Manhart, L E; Walson, J L

2016-12-01

Shigella is a leading cause of childhood diarrhea mortality in sub-Saharan Africa. Current World Health Organization guidelines recommend antibiotics for children in non cholera-endemic areas only in the presence of dysentery, a proxy for suspected Shigella infection. To assess the sensitivity and specificity of the syndromic diagnosis of Shigella-associated diarrhea, we enrolled children aged 6 months to 5 years presenting to 1 of 3 Western Kenya hospitals between November 2011 and July 2014 with acute diarrhea. Stool samples were tested using standard methods for bacterial culture and multiplex polymerase chain reaction for pathogenic Escherichia coli. Stepwise multivariable logit models identified factors to increase the sensitivity of syndromic diagnosis. Among 1360 enrolled children, median age was 21 months (interquartile range, 11-37), 3.4% were infected with human immunodeficiency virus, and 16.5% were stunted (height-for-age z-score less than -2). Shigella was identified in 63 children (4.6%), with the most common species being Shigella sonnei (53.8%) and Shigella flexneri (40.4%). Dysentery correctly classified 7 of 63 Shigella cases (sensitivity, 11.1%). Seventy-eight of 1297 children without Shigella had dysentery (specificity, 94.0%). The combination of fecal mucous, age over 23 months, and absence of excessive vomiting identified more children with Shigella-infection (sensitivity, 39.7%) but also indicated antibiotics in more children without microbiologically confirmed Shigella (specificity, 82.7%). Reliance on dysentery as a proxy for Shigella results in the majority of Shigella-infected children not being identified for antibiotics. Field-ready rapid diagnostics or updated evidence-based algorithms are urgently needed to identify children with diarrhea most likely to benefit from antibiotic therapy. © The Author 2015. Published by Oxford University Press on behalf of the Pediatric Infectious Diseases Society. All rights reserved. For Permissions

The influence of diet on the development of swine dysentery upon experimental infection

DEFF Research Database (Denmark)

Lindecrona, R.H.; Jensen, Tim Kåre; Jensen, B.B.

2003-01-01

, to confirm if low non-starch polysaccharide (NSP)-containing diets reduce swine dysentery the effect of different dietary levels of NSP and resistant starch (RS) was evaluated. These diets were based on cooked rice and animal protein, cooked rice and potato starch, cooked rice and wheat bran, or cooked rice...

Re-visiting Trichuris trichiura intensity thresholds based on anemia during pregnancy.

Science.gov (United States)

Gyorkos, Theresa W; Gilbert, Nicolas L; Larocque, Renée; Casapía, Martín; Montresor, Antonio

2012-01-01

The intensity categories, or thresholds, currently used for Trichuris trichiura (ie. epg intensities of 1-999 (light); 1,000-9,999 epg (moderate), and ≥ 10,000 epg (heavy)) were developed in the 1980s, when there were little epidemiological data available on dose-response relationships. This study was undertaken to determine a threshold for T. trichiura-associated anemia in pregnant women and to describe the implications of this threshold in terms of the need for primary prevention and chemotherapeutic interventions. In Iquitos, Peru, 935 pregnant women were tested for T. trichiura infection in their second trimester of pregnancy; were given daily iron supplements throughout their pregnancy; and had their blood hemoglobin levels measured in their third trimester of pregnancy. Women in the highest two T. trichiura intensity quintiles (601-1632 epg and ≥ 1633 epg) had significantly lower mean hemoglobin concentrations than the lowest quintile (0-24 epg). They also had a statistically significantly higher risk of anemia, with adjusted odds ratios of 1.67 (95% CI: 1.02, 2.62) and 1.73 (95% CI: 1.09, 2.74), respectively. This analysis provides support for categorizing a T. trichiura infection ≥ 1,000 epg as 'moderate', as currently defined by the World Health Organization. Because this 'moderate' level of T. trichiura infection was found to be a significant risk factor for anemia in pregnant women, the intensity of Trichuris infection deemed to cause or aggravate anemia should no longer be restricted to the 'heavy' intensity category. It should now include both 'heavy' and 'moderate' intensities of Trichuris infection. Evidence-based deworming strategies targeting pregnant women or populations where anemia is of concern should be updated accordingly.

The other Campylobacters: Not innocent bystanders in endemic diarrhea and dysentery in children in low-income settings.

Science.gov (United States)

François, Ruthly; Yori, Pablo Peñataro; Rouhani, Saba; Siguas Salas, Mery; Paredes Olortegui, Maribel; Rengifo Trigoso, Dixner; Pisanic, Nora; Burga, Rosa; Meza, Rina; Meza Sanchez, Graciela; Gregory, Michael J; Houpt, Eric R; Platts-Mills, James A; Kosek, Margaret N

2018-02-01

Campylobacter is one of the main causes of gastroenteritis worldwide. Most of the current knowledge about the epidemiology of this food-borne infection concerns two species, C. coli and C. jejuni. Recent studies conducted in developing countries and using novel diagnostic techniques have generated evidence of the increasing burden and importance of other Campylobacter species, i.e. non-C. coli/jejuni. We performed a nested case-control study to compare the prevalence of C. coli/jejuni and other Campylobacter in children with clinical dysentery and severe diarrhea as well as without diarrhea to better understand the clinical importance of infections with Campylobacter species other than C. coli/jejuni. Our nested case-control study of 439 stool samples included dysenteric stools, stools collected during severe diarrhea episodes, and asymptomatic stools which were systematically selected to be representative of clinical phenotypes from 9,160 stools collected during a birth cohort study of 201 children followed until two years of age. Other Campylobacter accounted for 76.4% of the 216 Campylobacter detections by qPCR and were more prevalent than C. coli/jejuni across all clinical groups. Other Campylobacter were also more prevalent than C. coli/jejuni across all age groups, with older children bearing a higher burden of other Campylobacter. Biomarkers of intestinal inflammation and injury (methylene blue, fecal occult test, myeloperoxidase or MPO) showed a strong association with dysentery, but mixed results with infection. MPO levels were generally higher among children infected with C. coli/jejuni, but Shigella-infected children suffering from dysentery recorded the highest levels (26,224 ng/mL); the lowest levels (10,625 ng/mL) were among asymptomatic children infected with other Campylobacter. Adjusting for age, sex, and Shigella infection, dysentery was significantly associated with C. coli/jejuni but not with other Campylobacter, whereas severe diarrhea was

The other Campylobacters: Not innocent bystanders in endemic diarrhea and dysentery in children in low-income settings.

Directory of Open Access Journals (Sweden)

Ruthly François

2018-02-01

Full Text Available Campylobacter is one of the main causes of gastroenteritis worldwide. Most of the current knowledge about the epidemiology of this food-borne infection concerns two species, C. coli and C. jejuni. Recent studies conducted in developing countries and using novel diagnostic techniques have generated evidence of the increasing burden and importance of other Campylobacter species, i.e. non-C. coli/jejuni. We performed a nested case-control study to compare the prevalence of C. coli/jejuni and other Campylobacter in children with clinical dysentery and severe diarrhea as well as without diarrhea to better understand the clinical importance of infections with Campylobacter species other than C. coli/jejuni.Our nested case-control study of 439 stool samples included dysenteric stools, stools collected during severe diarrhea episodes, and asymptomatic stools which were systematically selected to be representative of clinical phenotypes from 9,160 stools collected during a birth cohort study of 201 children followed until two years of age. Other Campylobacter accounted for 76.4% of the 216 Campylobacter detections by qPCR and were more prevalent than C. coli/jejuni across all clinical groups. Other Campylobacter were also more prevalent than C. coli/jejuni across all age groups, with older children bearing a higher burden of other Campylobacter. Biomarkers of intestinal inflammation and injury (methylene blue, fecal occult test, myeloperoxidase or MPO showed a strong association with dysentery, but mixed results with infection. MPO levels were generally higher among children infected with C. coli/jejuni, but Shigella-infected children suffering from dysentery recorded the highest levels (26,224 ng/mL; the lowest levels (10,625 ng/mL were among asymptomatic children infected with other Campylobacter. Adjusting for age, sex, and Shigella infection, dysentery was significantly associated with C. coli/jejuni but not with other Campylobacter, whereas severe

Re-visiting Trichuris trichiura intensity thresholds based on anemia during pregnancy.

Directory of Open Access Journals (Sweden)

Theresa W Gyorkos

Full Text Available The intensity categories, or thresholds, currently used for Trichuris trichiura (ie. epg intensities of 1-999 (light; 1,000-9,999 epg (moderate, and ≥ 10,000 epg (heavy were developed in the 1980s, when there were little epidemiological data available on dose-response relationships. This study was undertaken to determine a threshold for T. trichiura-associated anemia in pregnant women and to describe the implications of this threshold in terms of the need for primary prevention and chemotherapeutic interventions.In Iquitos, Peru, 935 pregnant women were tested for T. trichiura infection in their second trimester of pregnancy; were given daily iron supplements throughout their pregnancy; and had their blood hemoglobin levels measured in their third trimester of pregnancy. Women in the highest two T. trichiura intensity quintiles (601-1632 epg and ≥ 1633 epg had significantly lower mean hemoglobin concentrations than the lowest quintile (0-24 epg. They also had a statistically significantly higher risk of anemia, with adjusted odds ratios of 1.67 (95% CI: 1.02, 2.62 and 1.73 (95% CI: 1.09, 2.74, respectively.This analysis provides support for categorizing a T. trichiura infection ≥ 1,000 epg as 'moderate', as currently defined by the World Health Organization. Because this 'moderate' level of T. trichiura infection was found to be a significant risk factor for anemia in pregnant women, the intensity of Trichuris infection deemed to cause or aggravate anemia should no longer be restricted to the 'heavy' intensity category. It should now include both 'heavy' and 'moderate' intensities of Trichuris infection. Evidence-based deworming strategies targeting pregnant women or populations where anemia is of concern should be updated accordingly.

KERATODERMA BLENORRHAGICUM IN A PATIENT WITH REITER SYNDROME

Directory of Open Access Journals (Sweden)

Valentina Dimitrova

2008-10-01

Full Text Available Reiter syndrome is a systemic disorder, originally defined as a triad of arthritis, urethritis and conjunctivitis. This symptoms complex usually follows an episode of either urethritis or dysentery. Skin and mucosal involvement is observed in about 10% of the cases. We present a case of Reiter’s syndrome in a 55-year-old man who developed the typical skin lesions - kerathoderma blenorrhagicum. The disease started with a severe asymmetric oligoarthritis a month after the patient had urethritis. Two weeks after the onset of the arthritis red patches on the palms and plants appeared, which transformed quickly in harder and elevated plaques.

The first determination of Trichuris sp. from roe deer by amplification and sequenation of the ITS1-5.8S-ITS2 segment of ribosomal DNA.

Science.gov (United States)

Salaba, O; Rylková, K; Vadlejch, J; Petrtýl, M; Scháňková, S; Brožová, A; Jankovská, I; Jebavý, L; Langrová, I

2013-03-01

Trichuris nematodes were isolated from roe deer (Capreolus capreolus). At first, nematodes were determined using morphological and biometrical methods. Subsequently genomic DNA was isolated and the ITS1-5.8S-ITS2 segment from ribosomal DNA (RNA) was amplified and sequenced using PCR techniques. With u sing morphological and biometrical methods, female nematodes were identified as Trichuris globulosa, and the only male was identified as Trichuris ovis. The females were classified into four morphotypes. However, analysis of the internal transcribed spacers (ITS1-5.8S-ITS2) of specimens did not confirm this classification. Moreover, the female individuals morphologically determined as T. globulosa were molecularly identified as Trichuris discolor. In the case of the only male molecular analysis match the result of the molecular identification. Furthermore, a comparative phylogenetic study was carried out with the ITS1 and ITS2 sequences of the Trichuris species from various hosts. A comparison of biometric information from T. discolor individuals from this study was also conducted.

Trichuris suis secrete products that reduce disease severity in a multiple sclerosis model

DEFF Research Database (Denmark)

Hansen, Christine Soholm; Hasseldam, Henrik; Bacher, Idahella Hyldgaard

2017-01-01

, including parasites. Parasites are known to employ different immunomodulatory and antiinflammatory strategies, which enable them to evade destruction by the immune system. We have investigated the immunomodulation by the swine whipworm, Trichuris suis, by measuring the impact of oral administration of T...

Mucosal and systemic immune modulation by Trichuris trichiura in a self-infected individual

DEFF Research Database (Denmark)

Dige, Anders Kirch; Rasmussen, Tue Kruse; Nejsum, Peter

2017-01-01

Helminthic therapy of immune-mediated diseases has gained attention in recent years, but we know little of how helminths modulate human immunity. In this study, we investigated how self-infection with Trichuris (T.) trichiura in an adult man without intestinal disease affected mucosal and systemic...

[Dysentery and amoebiasis in Poland in 2010].

Science.gov (United States)

Stypułkowska-Misiurewicz, Hanna; Baumann-Popczyk, Anna

2012-01-01

Dysentery as infective and contagious disease is registered by all EU and EFTA countries only as shigellosis according to etiological classification of the infectious diseases. The cases are also registered by ECDC. According to ECDC Report for 2006-2008 the incidence rate in Poland Sanitary Stations, send to the National Register of Infectious Diseases, evaluated, calculated and published by Department of Epidemiology National Institute of Public Health (NIZP-PZH) in Annual Bulletin "Infections and Intoxications in Poland in 2010", Warsaw NIZP-PZH and GIS (Chief Sanitary Inspectorate ) 2010. Laboratory data were collected as reports from all Regional Sanitary Laboratories send to NIZP-PZH Department of Bacteriology, data from epidemiological investigation of outbreaks including data from identification of Shigella strains obtained from the Reference Laboratory for Gram-negative Bacilli of NIZP-PZH Bacteriology Department. In 2010 thirty cases of shigellosis were registered (incidence was 0.08/100 000 inhabitants) the same number of cases and incidence was observed in 2009, nearly the same in 2008 - 33 cases (incidence 0.09). The numbers were lower than the median in 2004-2008 (64 cases, incidence 0.17/100 000). According to laboratory reports in all 16 Regional Sanitary Stations only 14 persons were Shigella positive, in spite that more than 600 000 were examined: 10 persons were infected by S. sonnei, 4 by S. flexneri. Only one strain of S. sonnei was isolated from a patient with diarrhea. It was in the Regional Sanitary Station laboratory of the małopolskie voievodeshaft. No one strain of S. boydii or S. dysenteriae was isolated. Most of the dysentery cases were examined by other laboratories than laboratories of sanitary epidemiological service. The obligation of private payment for bacteriological examination of suspected cases is one of reason that patient is treated with antibacterial drugs without determination of etiological agent of the infection. It

Reliable molecular differentiation of Trichuris ovis and Trichuris discolor from sheep (Ovis orientalis aries) and roe deer (Capreolus capreolus) and morphological characterisation of their females: morphology does not work sufficiently.

Science.gov (United States)

Vejl, Pavel; Nechybová, Stanislava; Peřinková, Pavla; Melounová, Martina; Sedláková, Vladimíra; Vašek, Jakub; Čílová, Daniela; Rylková, Kateřina; Jankovská, Ivana; Vadlejch, Jaroslav; Langrová, Iva

2017-08-01

The main aim of the study was to evaluate associations between morphological variability of Trichuris females from sheep and roe deer and their rDNA polymorphism in whipworm populations from the Czech Republic. The results introduced the use of new molecular markers based on the internal transcribed spacer (ITS)1-5.8S RNA-ITS2 region polymorphisms, as useful tools for the unambiguous differentiation of congeners Trichuris ovis and Trichuris discolor. These markers revealed both parasites in roe deer and in sheep; however, T. ovis females predominated in sheep while T. discolor females occurred mostly in roe deer. Additional analysis of ITS1-5.8 rRNA-ITS2 discovered the genetic uniformity of the analysed T. discolor but high haplotype variation of T. ovis. Simultaneously, molecularly designated female individuals of both species were categorised into four morphotypes (MT) on the basis of morphology of genital pore area. MT1 and MT4 (vulvar opening on everted vaginal appendage/on visible cuticular bulge) occurred only in T. ovis, MT2 (uneverted vagina-vulvar opening without any elevation) was identified only in T. discolor and MT3 (transient type of vulvar opening on a small swelling) was observed in both species. Statistical analysis of biometric data confirmed that morphology of vulva is not a reliable marker for the species determination. On the basis of the ITS1-5.8S RNA-ITS2 region variability, we carried out a phylogenetic analysis (maximum likelihood method, Hasegawa-Kishino-Yano model) which showed that T. ovis haplotypes from the Czech Republic and Ireland and T. discolor haplotypes from the Czech Republic, Spain, Iran and Japan are sister OTUs.

Glucose 6-phosphate dehydrogenase: isoenzymatic pattern in Oesophagostomum venulosum, Trichuris ovis and T. suis.

Science.gov (United States)

Rodriguez, B; Cutillas, C; German, P; Guevara, D

1991-12-01

In the present communication we have studied the isoenzymatic pattern activity of the glucose 6-phosphate dehydrogenase (G6PD) in Oesophagostomum venulosum, Trichuris ovis and T. suis, parasites of Capra hircus (goat), Ovis aries (sheep) and Sus scrofa domestica (pig) respectively, by polyacrylamide gel electrophoresis. Different phenotypes have been observed in the G6PD isoenzymatic pattern activity in males and females of Oesophagostomum venulosum. Furthermore, G6PD activity has been assayed in Trichuris ovis collected from Ovis aries and Capra hircus. No differences have been observed in the isoenzymatic patterns attending to the different hosts. All the individuals exhibited one single band or two bands; this suggests a monomeric condition for G6PD in T. ovis. In T. suis the enzyme G6PD appeared as a single electrophoretic band in about 85.7% of the individuals.

The first report of new species: Trichuris landak n. sp.

Science.gov (United States)

Purwaningsih, Endang

2013-02-01

To study nematode parasites morphology of Hystrix javanica (H. javanica), both through the feces and internal organs. Feces were observed by direct smear method, internal organs were observed after dissecting the host. Specimens for light microscopy examination were fixed with 70% warm alcohol, cleared and mounted in lactophenol for wet mounting. Specimens for SEM examination were postfixed in cacodylate buffer and glutaraldehyde, dehydrated through a graded series of alcohol and freeze dried. The specimens were attached to stubs with double cello-tape, coated with gold and observed with a JSM5310 LV electron microscope. Figures were made with the aid of a drawing tube attached to Olympus compound microscope, other figures were photographs of scanning electron microscope images. Measurements were given in micrometers as the mean followed by the range in parentheses, unless otherwise stated. The nematode species found in the intestine of H. javanica are Gireterakis girardi and a new species, Trihuris landak. The new species differs with previously reported species from Hystrix because of having stylet and short cervical alae. The pattern of bacillary band is closed to Trichuris trichiurus, the species that infect human, but differs because the surface of its vulva is not covered with densely spine. The species of nematodes found on H. javanica were Gireterakis girardi and a new species Trichuris landak n.sp. Those two species are newly recorded in Indonesia.

Studies on antigenic cross-reactivity of Trichuris ovis with host mucosal antigens in goat

Directory of Open Access Journals (Sweden)

Gautam Patra

2015-12-01

Full Text Available Objective: To ascertain whether immunodominant antigens of Trichuris ovis might share and cross react with host molecule. Methods: Two crude protein preparations from anterior and posterior parts of Trichuris ovis were characterized along with host mucosal antigen by double immunodiffusion, sodium dodecyl sulfate-polyacrylamide gel electrophoresis and western blotting technique. Conventional scanning electron microscopy was performed as per standard procedure. Results: Sharp and distinct bands of three antigens have been found in double immunodiffusion using hyperimmune serum raised in rabbit indicating the presence of specific antibody against each antigen. All three antigens have shown major and minor bands with molecular weight ranging from 15 to 110 kDa during sodium dodecyl sulfate-polyacrylamide gel electrophoresis. Conclusions: The antigenic cross-reactivity was thought to result from shared antigens. The existence of paracloacal papillae found in the anterior part of the male was not a unique feature for species differentiation.

Swine dysentery: protection of pigs by oral and parenteral immunisation with attenuated Treponema hyodysenteriae.

Science.gov (United States)

Hudson, M J; Alexander, T J; Lysons, R J; Prescott, J F

1976-11-01

An attenuated strain of Treponema hyodysenteriae was used to immunise 18 pigs in three experiments. Live attenuated spirochaetes were dosed orally and injected intra-peritoneally, and killed spirochaetes were injected intramuscularly with adjuvant. The vaccinated pigs, which developed high serum agglutination titres against T hyodysenteriae, and 18 unvaccinated litter-mates were repeatedly challenged with virulent T hyodysenteriae. Nine vaccinated pigs and 16 control pigs developed typical swine dysentery.

Trichuris suis and Oesophagostomum dentatum show different sensitivity and accumulation of fenbendazole, albendazole and levamisole in vitro

DEFF Research Database (Denmark)

Hansen, Tina Vicky Alstrup; Nejsum, Peter; Friis, Christian

2014-01-01

BACKGROUND: The single-dose benzimidazoles used against Trichuris trichiura infections in humans are not satisfactory. Likewise, the benzimidazole, fenbendazole, has varied efficacy against Trichuris suis whereas Oesophagostomum dentatum is highly sensitive to the drug. The reasons for low...... treatment efficacy of Trichuris spp. infections are not known. METHODOLOGY: We studied the effect of fenbendazole, albendazole and levamisole on the motility of T. suis and O. dentatum and measured concentrations of the parent drug compounds and metabolites of the benzimidazoles within worms in vitro....... The motility and concentrations of drug compounds within worms were compared between species and the maximum specific binding capacity (Bmax) of T. suis and O. dentatum towards the benzimidazoles was estimated. Comparisons of drug uptake in living and killed worms were made for both species. PRINCIPAL FINDINGS...

In vitro hatching of Trichuris suis eggs

DEFF Research Database (Denmark)

Vejzagic, Nermina; Thamsborg, Stig Milan; Kringel, Helene

2015-01-01

Eggs of the pig whipworm, Trichuris suis ova (TSO), are currently tested in human clinical trials for their potential immunomodulatory capacity. The biological potency of TSO (egg viability and infectivity) is traditionally assessed in Göttingen minipigs as the establishment of intestinal larvae...... after inoculation with a known number of eggs. To minimize testing in animal models, development of an in vitro egg hatching assay is proposed as a reliable, cost-effective, and a faster alternative to test the egg viability. The present study aimed to investigate the influence of different chemical......, physical, and biological factors on egg hatching. Thus, in a series of experiments and in different combinations, the eggs were stimulated with glass beads, artificial gastric juice, bile salt and trypsin solution, fermentation gut medium, or stimulated with mucosal scrapings from the ileum and the large...

Estrategia de Ascaris lumbricoides y Trichuris trichiura para la contaminación del medio ambiente, en una zona endemica Strategy of Ascaris lumbricoides and Trichuris trichiura for the environment contamination in an endemic area

Directory of Open Access Journals (Sweden)

Gustavo Morales

1988-06-01

Full Text Available La distribución de frecuencias del número de huevos por gramo de heces tanto de Ascaris lumbricoides como de Trichuris trichiura en humanos infestados en una zona endémica se corresponde con una ley binomial negativa y la disposición espacial de dichos huevos en la materia fecal, resultó ser en agregados, independientemente de que los hospedadores sean mayores o menores de 15 años. Estos resultados nos indican que solamente unos pocos hospedadores son los responsables de la mayor contaminación del medio ambiente y que esos individuos no pertenecen a ningún grupo etario en particular.The distribution of frequences of the number per grame of Ascaris lumbricoides and Trichuris trichiura in the faeces of naturally infected human in endemic areas, were found following a negative binomial distribution and an overdispersal pattern, independently of the ages of hosts. These results show, that only few hosts, independently of their ages, are involved in the higher environment contamination.

Antigenic Cross-reactivity among Haemonchus contortus, Oesophagostomum columbianum and Trichuris ovis of Goat

OpenAIRE

JAS, Ruma; GHOSH, Joydeb; DAS, Kinsuk

2016-01-01

Background: Cross antigenicity is the major problem in developing a reliable tool for immunodiagnosis and immunoprophylaxis of parasitic diseases. Mixed infection due to different types of gastrointestinal parasites is more common than single species infection under field condition.Methods: The present study was undertaken to detect antigenic cross-reactivity among Haemonchus contortus, Oesophagostomum columbianum and Trichuris ovis of goats by SDS-PAGE and western blot analysis using hyperim...

Randomized intervention study of solar disinfection of drinking water in the prevention of dysentery in Kenyan children aged under 5 years

CSIR Research Space (South Africa)

Du Preez, M

2011-09-01

Full Text Available The authors report the results of a randomized controlled intervention study (September 2007 to March 2009) investigating the effect of solar disinfection (SODIS) of drinking water on the incidence of dysentery, nondysentery diarrhea...

Cefotaximase and AmpC-producing Shigella flexneri in case of dysentery from southern India

Directory of Open Access Journals (Sweden)

S Oommen

2013-01-01

Full Text Available Diarrhoea and dysentery caused by Shigella spp. are major public health concerns. Emerging multidrug resistance (MDR in this pathogen further complicates this disease. Extended spectrum β-lactamases (ESBLs have been described in this pathogen, which significantly compromises the treatment options for shigellosis. The usual ESBLs seen are sulfhydryl variable (SHV-type; cefotaximases (CTX-M are very uncommonly detected. Here, we report a CTX-M type and AmpC-producing Shigella flexneri from a three-year-old boy residing in Central Kerala, South India.

The extant World War 1 dysentery bacillus NCTC1: a genomic analysis.

Science.gov (United States)

Baker, Kate S; Mather, Alison E; McGregor, Hannah; Coupland, Paul; Langridge, Gemma C; Day, Martin; Deheer-Graham, Ana; Parkhill, Julian; Russell, Julie E; Thomson, Nicholas R

2014-11-08

Shigellosis (previously bacillary dysentery) was the primary diarrhoeal disease of World War 1, but outbreaks still occur in military operations, and shigellosis causes hundreds of thousands of deaths per year in developing nations. We aimed to generate a high-quality reference genome of the historical Shigella flexneri isolate NCTC1 and to examine the isolate for resistance to antimicrobials. In this genomic analysis, we sequenced the oldest extant Shigella flexneri serotype 2a isolate using single-molecule real-time (SMRT) sequencing technology. Isolated from a soldier with dysentery from the British forces fighting on the Western Front in World War 1, this bacterium, NCTC1, was the first isolate accessioned into the National Collection of Type Cultures. We created a reference sequence for NCTC1, investigated the isolate for antimicrobial resistance, and undertook comparative genetics with S flexneri reference strains isolated during the 100 years since World War 1. We discovered that NCTC1 belonged to a 2a lineage of S flexneri, with which it shares common characteristics and a large core genome. NCTC1 was resistant to penicillin and erythromycin, and contained a complement of chromosomal antimicrobial resistance genes similar to that of more recent isolates. Genomic islands gained in the S flexneri 2a lineage over time were predominately associated with additional antimicrobial resistances, virulence, and serotype conversion. This S flexneri 2a lineage is a well adapted pathogen that has continued to respond to selective pressures. We have created a valuable historical benchmark for shigellae in the form of a high-quality reference sequence for a publicly available isolate. The Wellcome Trust. Copyright © 2014 Baker et al. Open Access article distributed under the terms of CC BY. Published by Elsevier Ltd. All rights reserved.

Assessing the zoonotic potential of Ascaris suum and Trichuris suis

DEFF Research Database (Denmark)

Nejsum, Peter; Betson, M.; Bendall, R. P.

2012-01-01

The two geohelminths, Ascaris lumbricoides and Trichuris trichiura, infect more than a billion people worldwide but are only reported sporadically in the developed part of the world. In contrast, the closely related species A. suum and T. suis in pigs have a truly global distribution, with infect...... and pig host, with special focus on recent evidence concerning the zoonotic potential of these parasites, and identify some open questions for future research....

Some parasitological, pathological and immunohistochemical examinations in sheep naturally infected by Trichuris Ovis

OpenAIRE

P. T. Iliev; A. Ivanov; Z. Kirkova; K. Hristov; K. Dinkova; J. Ananiev

2017-01-01

A case of Trichuris ovis infection in a lamb is presented. In June 2012 a herd of 12 infected with T. ovis lambs in Brestnik (Southern Bulgaria) were discovered. A diarrhea and loss in body weight in 2 lambs have been observed. Despite antibiotic treatment one of the animals died. Parasitological examination was done. During necropsy of the gastro-intestinal tract, adult worms in the caecum were found. Standart staining and immunohistochemistry were performed to detect the cell population in ...

The whipworm (Trichuris suis) secretes prostaglandin E2 to suppress proinflammatory properties in human dendritic cells

DEFF Research Database (Denmark)

Laan, Lisa C; Williams, Andrew R; Stavenhagen, Kathrin

2017-01-01

Clinical trials have shown that administration of the nematode Trichuris suis can be beneficial in treating various immune disorders. To provide insight into the mechanisms by which this worm suppresses inflammatory responses, an active component was purified from T. suis soluble products (TsSPs)...

Solar disinfection of drinking water in the prevention of dysentery in South African children under 5 years: the role of participant motivation

CSIR Research Space (South Africa)

Du Preez, M

2010-11-01

Full Text Available This 1-year randomized controlled trial investigated the effect of SODIS of drinking water and motivation on the incidence of dysentery and nondysentery diarrhea among children of age 6 months to 5 years living in periurban communities in South...

Determination of Trichuris skrjabini by sequencing of the ITS1-5.8S-ITS2 segment of the ribosomal DNA: comparative molecular study of different species of trichurids.

Science.gov (United States)

Cutillas, C; Oliveros, R; de Rojas, M; Guevara, D C

2004-06-01

Adults of Trichuris skrjahini have been isolated from the cecum of caprine hosts (Capra hircus), Trichuris ovis and Trichuris globulosa from Ovis aries (sheep) and C. hircus (goats), and Trichuris leporis from Lepus europaeus (rabbits) in Spain. Genomic DNA was isolated and the ITS1-5.8S-ITS2 segment from the ribosomal DNA (rDNA) was amplified and sequenced by polymerase chain reaction (PCR) techniques. The ITS1 of T. skrjabini, T. ovis, T. globulosa, and T. leporis was 495, 757, 757, and 536 nucleotides in length, respectively, and had G + C contents of 59.6, 58.7, 58.7, and 60.8%, respectively. Intraindividual variation was detected in the ITSI sequences of the 4 species. Furthermore, the 5.8S sequences of T. skrjabini, T. ovis, T. globulosa, and T. leporis were compared. A total of 157, 152, 153, and 157 nucleotides in length was observed in the 5.8S sequences of these 4 species, respectively. There were no sequence differences of ITS1 and 5.8S products between T. ovis and T. globulosa. Nevertheless, clear differences were detected between the ITS1 sequences of T. skrjabini, T. ovis, T. leporis, Trichuris muris, and T. arvicolae. The ITS2 fragment from the rDNA of T. skrjabini was sequenced. A comparative study of the ITS2 sequence of T. skrjabini with the previously published ITS2 sequence data of T. ovis, T. leporis, T. muris, and T. arvicolae suggested that the combined use of sequence data from both spacers would be useful in the molecular characterization of trichurid parasites.

Trichuris suis and Oesophagostomum dentatum show different sensitivity and accumulation of fenbendazole, albendazole and levamisole in vitro.

Directory of Open Access Journals (Sweden)

Tina V A Hansen

2014-04-01

Full Text Available BACKGROUND: The single-dose benzimidazoles used against Trichuris trichiura infections in humans are not satisfactory. Likewise, the benzimidazole, fenbendazole, has varied efficacy against Trichuris suis whereas Oesophagostomum dentatum is highly sensitive to the drug. The reasons for low treatment efficacy of Trichuris spp. infections are not known. METHODOLOGY: We studied the effect of fenbendazole, albendazole and levamisole on the motility of T. suis and O. dentatum and measured concentrations of the parent drug compounds and metabolites of the benzimidazoles within worms in vitro. The motility and concentrations of drug compounds within worms were compared between species and the maximum specific binding capacity (Bmax of T. suis and O. dentatum towards the benzimidazoles was estimated. Comparisons of drug uptake in living and killed worms were made for both species. PRINCIPAL FINDINGS: The motility of T. suis was generally less decreased than the motility of O. dentatum when incubated in benzimidazoles, but was more decreased when incubated in levamisole. The Bmax were significantly lower for T. suis (106.6, and 612.7 pmol/mg dry worm tissue than O. dentatum (395.2, 958.1 pmol/mg dry worm tissue when incubated for 72 hours in fenbendazole and albendazole respectively. The total drug concentrations (pmol/mg dry worm tissue were significantly lower within T. suis than O. dentatum whether killed or alive when incubated in all tested drugs (except in living worms exposed to fenbendazole. Relatively high proportions of the anthelmintic inactive metabolite fenbendazole sulphone was measured within T. suis (6-17.2% as compared to O. dentatum (0.8-0.9%. CONCLUSION/SIGNIFICANCE: The general lower sensitivity of T. suis towards BZs in vitro seems to be related to a lower drug uptake. Furthermore, the relatively high occurrence of fenbendazole sulphone suggests a higher detoxifying capacity of T. suis as compared to O. dentatum.

Trichuris suis and Oesophagostomum dentatum show different sensitivity and accumulation of fenbendazole, albendazole and levamisole in vitro.

Science.gov (United States)

Hansen, Tina V A; Nejsum, Peter; Friis, Christian; Olsen, Annette; Thamsborg, Stig Milan

2014-04-01

The single-dose benzimidazoles used against Trichuris trichiura infections in humans are not satisfactory. Likewise, the benzimidazole, fenbendazole, has varied efficacy against Trichuris suis whereas Oesophagostomum dentatum is highly sensitive to the drug. The reasons for low treatment efficacy of Trichuris spp. infections are not known. We studied the effect of fenbendazole, albendazole and levamisole on the motility of T. suis and O. dentatum and measured concentrations of the parent drug compounds and metabolites of the benzimidazoles within worms in vitro. The motility and concentrations of drug compounds within worms were compared between species and the maximum specific binding capacity (Bmax) of T. suis and O. dentatum towards the benzimidazoles was estimated. Comparisons of drug uptake in living and killed worms were made for both species. The motility of T. suis was generally less decreased than the motility of O. dentatum when incubated in benzimidazoles, but was more decreased when incubated in levamisole. The Bmax were significantly lower for T. suis (106.6, and 612.7 pmol/mg dry worm tissue) than O. dentatum (395.2, 958.1 pmol/mg dry worm tissue) when incubated for 72 hours in fenbendazole and albendazole respectively. The total drug concentrations (pmol/mg dry worm tissue) were significantly lower within T. suis than O. dentatum whether killed or alive when incubated in all tested drugs (except in living worms exposed to fenbendazole). Relatively high proportions of the anthelmintic inactive metabolite fenbendazole sulphone was measured within T. suis (6-17.2%) as compared to O. dentatum (0.8-0.9%). The general lower sensitivity of T. suis towards BZs in vitro seems to be related to a lower drug uptake. Furthermore, the relatively high occurrence of fenbendazole sulphone suggests a higher detoxifying capacity of T. suis as compared to O. dentatum.

Some parasitological, pathological and immunohistochemical examinations in sheep naturally infected by Trichuris Ovis

Directory of Open Access Journals (Sweden)

P. T. Iliev

2017-06-01

Full Text Available A case of Trichuris ovis infection in a lamb is presented. In June 2012 a herd of 12 infected with T. ovis lambs in Brestnik (Southern Bulgaria were discovered. A diarrhea and loss in body weight in 2 lambs have been observed. Despite antibiotic treatment one of the animals died. Parasitological examination was done. During necropsy of the gastro-intestinal tract, adult worms in the caecum were found. Standart staining and immunohistochemistry were performed to detect the cell population in the affected areas of the caecum

A Dog with Pseudo-Addison Disease Associated with Trichuris vulpis Infection

Directory of Open Access Journals (Sweden)

Luigi Venco

2011-01-01

Full Text Available A female Rottweiler dog was presented with a history of intermittent vomiting and diarrhoea, dysorexia, weakness, and weight loss. Haemocytometry and biochemistry values were within normal ranges except for electrolyte analyses, that demonstrated hyponatremia and hyperkalemia with a decreased sodium/potassium ratio. A diagnosis of hypoadrenocorticism was suspected. Basal and post-ACTH stimulation cortisolemia were within the normal values. Electrocardiography was normal, and thoracic radiography showed no significant modifications. On abdominal ultrasonography, adrenal glands appeared normal, while the bowel was distended, and several thin linear hyperechoic objects floating in the lumen were observed. Two adult female whipworms (Trichuris vulpis were collected following bowel irrigation. Anthelmintic treatment against the parasite was curative.

Detection of a quantitative trait locus associated with resistance to infection with Trichuris suis in pigs

DEFF Research Database (Denmark)

Skallerup, Per; Thamsborg, Stig Milan; Jørgensen, Claus Bøttcher

2015-01-01

diarrhoea. A significant proportion of the variation in Trichuris faecal egg count (FEC) has been attributed to the host's genetic make-up. The aim of the present study was to identify genetic loci associated with resistance to T. suis in pigs. We used single nucleotide polymorphism (SNP) markers to perform...

A survey of medicinal plants used in the treatment of dysentery in amathole district municipality, south africa

International Nuclear Information System (INIS)

Afolayan, A.J.; Wintola, O.A.

2014-01-01

In view of the prevalence of dysentery in developing countries such as South Africa and the erosion of indigenous knowledge of phytomedicine due to lack of interest by the young generation, a survey of five local municipalities of Amathole district, Eastern Cape Province was carried out in 2012. A questionnaire-guided interview of the indigenous people by random sampling was done with the help of an interpreter during a survey of the district. Fifty-five (55) respondents participated in the study. The respondents comprised of 25% traditional medical practitioners, 15% herb-sellers and 15% rural elders. Fifty-one (51) plants species of 32 families were documented. Fabaceae had the highest representation of seven (14%) plant species used for the treatment of dysentery; some other families were Asphodelaceae, Apiaceae, Geraniaceae, Anacardiaceae, Bignoniaceae, Ebenaceae, Euphorbiaceae, Hyacinthaceae, Asclepiadiaceae, Acanthaceae, Asteraceae, Balanophaceae, Celstraceae, Convolvulaceae, Cornaceae, Iridaceae, and Hydronaceae. The medicinal plants with the highest frequency of prescription were Hydnora africana and Alepidea amatymbica. The plants were used singly or in combination in recipes. Leaves (28%) had the highest use-value of plant parts, followed by the roots (24%), bark (22%) and the whole plant (9%). Methods of preparation of recipes were decoction, infusion and tincture. The use of recipe as an enema was also documented. The study of the pharmacology and mode of action of the plants will contribute immensely to their therapeutic value. (author)

Parasite population dynamics in pigs infected with Trichuris suis and Oesophagostomum dentatum

DEFF Research Database (Denmark)

Petersen, Heidi Huus; Andreasen, Annette; Kringel, Helene

2014-01-01

The aim of the present study was to investigate the population dynamics and potential interactions between Trichuris suis and Oesophagostomum dentatum in experimentally co-infected pigs, by quantification of parasite parameters such as egg excretion, worm recovery and worm location. Forty......-eight helminth naïve pigs were allocated into four groups. Group O was inoculated with 20 O. dentatum L3/kg/day and group T with 10 T. suis eggs/kg/day. Group OT was inoculated with both 20 O. dentatum L3/kg/day and 10 T. suis eggs/kg/day, while Group C was kept as an uninfected control group. All inoculations...

Development, Hatching, and Intestinal Establishment of Trichuris suis, - in vivo and in vitro Studies

DEFF Research Database (Denmark)

Vejzagic, Nermina

Trichuris suis, the pig whipworm is a nematode parasite located in the large intestine of pigs. Embryonated eggs of T. suis (T. suis ova = TSO) constitute the active pharmaceutical ingredient (API) in a new medicinal product, which is currently tested in human clinical trials as a potential treat...

Field validity and feasibility of four techniques for the detection of Trichuris in simians: a model for monitoring drug efficacy in public health?

Directory of Open Access Journals (Sweden)

Bruno Levecke

Full Text Available BACKGROUND: Soil-transmitted helminths, such as Trichuris trichiura, are of major concern in public health. Current efforts to control these helminth infections involve periodic mass treatment in endemic areas. Since these large-scale interventions are likely to intensify, monitoring the drug efficacy will become indispensible. However, studies comparing detection techniques based on sensitivity, fecal egg counts (FEC, feasibility for mass diagnosis and drug efficacy estimates are scarce. METHODOLOGY/PRINCIPAL FINDINGS: In the present study, the ether-based concentration, the Parasep Solvent Free (SF, the McMaster and the FLOTAC techniques were compared based on both validity and feasibility for the detection of Trichuris eggs in 100 fecal samples of nonhuman primates. In addition, the drug efficacy estimates of quantitative techniques was examined using a statistical simulation. Trichuris eggs were found in 47% of the samples. FLOTAC was the most sensitive technique (100%, followed by the Parasep SF (83.0% [95% confidence interval (CI: 82.4-83.6%] and the ether-based concentration technique (76.6% [95% CI: 75.8-77.3%]. McMaster was the least sensitive (61.7% [95% CI: 60.7-62.6%] and failed to detect low FEC. The quantitative comparison revealed a positive correlation between the four techniques (Rs = 0.85-0.93; p<0.0001. However, the ether-based concentration technique and the Parasep SF detected significantly fewer eggs than both the McMaster and the FLOTAC (p<0.0083. Overall, the McMaster was the most feasible technique (3.9 min/sample for preparing, reading and cleaning of the apparatus, followed by the ether-based concentration technique (7.7 min/sample and the FLOTAC (9.8 min/sample. Parasep SF was the least feasible (17.7 min/sample. The simulation revealed that the sensitivity is less important for monitoring drug efficacy and that both FLOTAC and McMaster were reliable estimators. CONCLUSIONS/SIGNIFICANCE: The results of this study

[Epidemic of bacillary dysentery in the Rwanda refugee camps of the Goma region (Zaire, North Kivu) in August 1994].

Science.gov (United States)

Milleliri, J M; Soares, J L; Signoret, J; Bechen, R; Lamarque, D; Boutin, J P; Coué, J C; Niel, L; Merouze, F; Rey, J L

1995-09-01

The authors describe the extension of an outbreak of bacillary dysentery among the Rwandese populations seeking refuge in the region of Goma, Zaire in august 1994. Analysis of the epidemiological surveillance data and of the bacteriological laboratory results of the Bioforce, show that this epidemic was probably facilitated by the preceding cholera outbreak. In such circumstances, rapid sterilization of the virus reservoir, by short course treatments, might be beneficial in limiting the extension of the epidemic.

Characterization of four species of Trichuris (Nematoda: Enoplida) by their second internal transcribed spacer ribosomal DNA sequence.

Science.gov (United States)

Oliveros, R; Cutillas, C; De Rojas, M; Arias, P

2000-12-01

Adult worms of Trichuris ovis and T. globulosa were collected from Ovis aries (sheep) and Capra hircus (goats). T. suis was isolated from Sus scrofa domestica (swine) and T. leporis was isolated from Lepus europaeus (rabbits) in Spain. Genomic DNA was isolated and a ribosomal internal transcribed spacer (ITS2) was amplified and sequenced using polymerase-chain-reaction (PCR) techniques. The ITS2 of T. ovis and T. globulosa was 407 nucleotides in length and had a GC content of about 62%. Furthermore, the ITS2 of T. suis and T. leporis was 534 and 418 nucleotides in length and had a GC content of about 64.8% and 62.4%, respectively. There was evidence of slight variation in the sequence within individuals of all species analyzed, indicating intraindividual variation in the sequence of different copies of the ribosomal DNA. Furthermore, low-level intraspecific variation was detected. Sequence analyses of ITS2 products of T. ovis and T. globulosa demonstrated no sequence difference between them. Nevertheless, differences were detected between the ITS2 sequences of T. suis, T. leporis, and T. ovis, indicating that Trichuris species can reliably be differentiated by their ITS2 sequences and PCR-linked restriction-fragment-length polymorphism (RFLP).

Effect of combinations of marketed human anthelmintic drugs against Trichuris muris in vitro and in vivo

Directory of Open Access Journals (Sweden)

Keiser Jennifer

2012-12-01

Full Text Available Abstract Background Soil-transmitted helminth (STH infections are responsible for a huge public health burden, however treatment options are limited. The discovery and development of novel efficacious drugs or drug combinations for the treatment of STH infections therefore has a high research priority. Methods We studied drug combination effects using the main standard anthelmintics, albendazole, mebendazole, levamisole, pyrantel pamoate and ivermectin in the Trichuris muris model. Drug combinations were first tested in vitro and additive and synergistic combinations investigated further in vivo in female mice using ratios based on the ED50 of the respective drugs. Results In vitro all 10 combinations of the standard anthelmintics tested against T. muris revealed synergistic behavior. We identified three drug combinations in vivo as strongly synergistic, namely mebendazole-ivermectin (Combination index (CI=0.16, mebendazole-levamisole (CI=0.17 and albendazole-mebendazole (CI=0.23. For albendazole-ivermectin, moderate synergism was observed (CI=0.81 and for albendazole-levamisole a nearly additive effect was documented (CI=0.93 in vivo. Five combinations (albendazole-pyrantel pamoate, mebendazole-pyrantel pamoate, levamisole-pyrantel pamoate, levamisole-ivermectin and pyrantel pamoate-ivermectin were antagonistic in vivo. Conclusion Our results strengthen the evidence that combination chemotherapy might play a role in the treatment of Trichuris infections. Albendazole-mebendazole should be studied in greater detail in preclinical studies.

Genetic variations in the beta-tubulin gene and the internal transcribed spacer 2 region of Trichuris species from man and baboons

DEFF Research Database (Denmark)

Hansen, Tina Vicky Alstrup; Thamsborg, Stig Milan; Olsen, Annette

2013-01-01

The whipworm Trichuris trichiura has been estimated to infect 604 -- 795 million people worldwide. The current control strategy against trichuriasis using the benzimidazoles (BZs) albendazole (400 mg) or mebendazole (500 mg) as single-dose treatment is not satisfactory. The occurrence of single...

Serum antibody responses in pigs trickle-infected with Ascaris and Trichuris

DEFF Research Database (Denmark)

Kringel, Helene; Thamsborg, Stig Milan; Petersen, Heidi Huus

2015-01-01

A humoral immune response following helminth infection in pigs is well documented. However, it has been difficult to confirm the existence of antibody mediated resistance against the large roundworm, Ascaris suum, and whipworm, Trichuris suis, in experimental settings by correlating worm burdens...... or egg excretion with specific antibody levels. We set out to investigate the association between worm load and T. suis and A. suum specific serum antibody levels (IgG1, IgG2 and IgA) against excretory-secretory products of adults and third stage larvae, respectively, measured at 0, 7 and 14 weeks p.......i. in a trickle-infected F1-resource-population of crossbred pigs (n=195). Furthermore, we wanted to determine the heritability of these antibody isotypes during the course of infection. Most pigs remained infected with A. suum throughout the experiment while they expelled T. suis between 7 and 14 weeks post...

Superoxide dismutase from Trichuris ovis--inhibition by benzimidazoles and pyrimidine derivatives.

Science.gov (United States)

Sanchez-Moreno, M; Garcia-Rejon, L; Salas, I; Osuna, A; Monteoliva, M

1992-01-01

Three superoxide dismutase isoenzymes of different cellular location were detected in an homogenate of Trichuris ovis. Each of these molecular forms was purified by differential centrifugation and precipitation with ammonium sulphate, followed by chromatography on DEAE-cellulose and Sephadex G-75 columns. The activity levels of the two molecular forms detected in the mitochondrial (one cyanide sensitive Cu-Zn-SOD and the other cyanide insensitive Mn-SOD) were higher than that of the superoxide dismutase detected in the cytoplasmic fraction (cyanide sensitive Cu-Zn-SOD). All molecular forms present evident differences to the SODs contained in the host liver. Molecular mass and some of the physical and chemical properties of the enzyme was determined for all three molecular forms. An inhibitory effect on the SOD of the parasite an the host was detected with a series of compounds, some of which markedly inhibited parasite enzyme but not host enzyme.

Parasite-specific IL-4 responses in Ascaris suum and Trichuris suis-infected pigs evaluated by ELISPOT

DEFF Research Database (Denmark)

Steenhard, N. R.; Kringel, H.; Roepstorff, A.

2007-01-01

method is a valuable tool for future experimental settings as it enables repeated and parasite-specific measurement of IL-4 at protein level when investigating, for example, immunomodulatory properties of helminths. Furthermore, the method could be used to identify specific parasite antigens inducing IL......The objective of the present study was to develop an ELISPOT method to measure parasite-specific IL-4 producing cells during experimental Ascaris suum and Trichuris suis infections in pigs. In many experimental settings it is useful to be able to measure changes in specifically induced cytokines...

Mitochondrial and nuclear ribosomal DNA evidence supports the existence of a new Trichuris species in the endangered François' leaf-monkey

DEFF Research Database (Denmark)

Liu, Guo-Hua; Gasser, Robin B.; Nejsum, Peter

2013-01-01

The whipworm of humans, Trichuris trichiura, is responsible for a neglected tropical disease (NTD) of major importance in tropical and subtropical countries of the world. Whipworms also infect animal hosts, including pigs, dogs and non-human primates, cause clinical disease (trichuriasis) similar...

Efficacy of fenbendazole formulated in a commercial primate diet for treating specific pathogen-free baboons (Papio cynocephalus anubis) infected with Trichuris trichiura.

Science.gov (United States)

Reichard, Mason V; Wolf, Roman F; Clingenpeel, Lindsay C; Doan, Sandra K; Jones, Amy N; Gray, Kristene M

2008-11-01

Trichuris trichiura is a common intestinal nematode parasite of captive baboons. We evaluated the efficacy of fenbendazole formulated in a commercial primate diet (FBZ-PD) for treating specific pathogen-free (SPF) baboons (Papio cynocephalus anubis) naturally infected with Trichuris trichiura. Twenty-nine baboons, housed indoors in 3 separate rooms, were fed FBZ-PD for 5 d, whereas 4 baboons housed in another isolated area served as untreated controls. The efficacy of FBZ-PD was measured as reduction in the number of T. trichiura eggs in host feces after treatment as determined by quantitative fecal flotation examination. All baboons that received FBZ-PD stopped shedding T. trichiura eggs by 7 d after initiation of treatment, and remained negative until at least 119 d after treatment. However, eggs of T. trichiura were present in the feces of 3 (10.3%) experimental baboons at 154 d after treatment. Untreated control baboons shed T. trichiura eggs throughout the entire study. Our results indicate that FBZ-PD was efficacious for treating SPF baboons infected with T. trichiura.

Ekiri syndrome: a report of 13 cases

Directory of Open Access Journals (Sweden)

Rahbarimanesh AA

2009-02-01

Full Text Available "nBackground: Ekiri syndrome or lethal toxic encephalopathy is a complication of shigellosis with dysentery, hyperpyrexia, seizures, headache and altered level of consiousness, which rapidly progresses to death. These children die at the beginning of the disease (8-48 hours from the beginning of symptoms, from brain edema. However they had no symptoms or signs of sepsis, dehydration, DIC or Hemolytic Uremic Syndrome (HUS. "nMethods: This survey is a case series study of children with Ekiri syndrome in Bahrami hospital from October 1998-2008 presented with loss of consciousness, colitis and high fever shortly after admission. Information about the patients was gathered from the documents according to physical signs and symptoms, lab data of those whom Ekiri syndrome had been diagnosed for them. Studied variables in this assessment were age, sex, fever, convulsions and loss of consciousness. Headache, encephalopathy, dehydration, elevated ICP, colitis, underline disease, stool, blood and CSF cultures. "nResults: The subjects contain 13 cases (10 male, 3 female, averaged 30/5 months of age. All had seizure, elevated ICP, encephalopathy and coma. All of the patients had fever between 39 and 40, averaged 39.5 degree of centigrade. Seven patients had headache and three ones was dehydrated. The first presentation symptom in three patients was gastroenteritis, in 9 was siezure and in 1 patient was headache. Stool culture in all patients was positive, but blood culture was positive in only one of them. CSF culture was negative in all of the patients. Mortality was 100%. "nConclusion: Symptoms, signs and presentation of Ekiri syndrome, a rare complication of infection with shigella, in the patients in Bahrami hospital was similar with the other studies beforehand in other countries. In this study, all the patients were died and supportive treatments were ineffective.

Testing parasite 'intimacy': the whipworm Trichuris muris in the European house mouse hybrid zone.

Science.gov (United States)

Wasimuddin; Bryja, Josef; Ribas, Alexis; Baird, Stuart J E; Piálek, Jaroslav; Goüy de Bellocq, Joëlle

2016-05-01

Host-parasite interaction studies across hybrid zones often focus on host genetic variation, treating parasites as homogeneous. 'Intimately' associated hosts and parasites might be expected to show similar patterns of genetic structure. In the literature, factors such as no intermediate host and no free-living stage have been proposed as 'intimacy' factors likely constraining parasites to closely follow the evolutionary history of their hosts. To test whether the whipworm, Trichuris muris, is intimately associated with its house mouse host, we studied its population genetics across the European house mouse hybrid zone (HMHZ) which has a strong central barrier to gene flow between mouse taxa. T. muris has a direct life cycle and nonmobile free stage: if these traits constrain the parasite to an intimate association with its host we expect a geographic break in the parasite genetic structure across the HMHZ. We genotyped 205 worms from 56 localities across the HMHZ and additionally T. muris collected from sympatric woodmice (Apodemus spp.) and allopatric murine species, using mt-COX1, ITS1-5.8S-ITS2 rDNA and 10 microsatellites. We show four haplogroups of mt-COX1 and three clear ITS1-5.8S-ITS2 clades in the HMHZ suggesting a complex demographic/phylogeographic history. Microsatellites show strong structure between groups of localities. However, no marker type shows a break across the HMHZ. Whipworms from Apodemus in the HMHZ cluster, and share mitochondrial haplotypes, with those from house mice. We conclude Trichuris should not be regarded as an 'intimate' parasite of the house mouse: while its life history might suggest intimacy, passage through alternate hosts is sufficiently common to erase signal of genetic structure associated with any particular host taxon.

Immune responses and parasitological observations induced during probiotic treatment with medicinal Trichuris suis ova in a healthy volunteer

DEFF Research Database (Denmark)

Williams, Andrew R; Dige, Anders; Rasmussen, Tue Kruse

2017-01-01

Ingestion of eggs (ova) of the porcine nematode parasite Trichuris suis (TSO) may reduce the severity of autoimmune disorders, however the development of TSO treatment as a useful therapy for autoimmune diseases is hampered by a lack of knowledge on the development of the parasite and the nature...... was also reflected to some extent in the peripheral circulation. These results, together with the first definitive observations that T. suis can mature to adult size and reproduce in humans, shed new light on the interaction between the human immune system and probiotic helminth treatment, which should...

Genetic variability among Trichuris ovis isolates from different hosts in Guangdong Province, China revealed by sequences of three mitochondrial genes.

Science.gov (United States)

Wang, Yan; Liu, Guo-Hua; Li, Jia-Yuan; Xu, Min-Jun; Ye, Yong-Gang; Zhou, Dong-Hui; Song, Hui-Qun; Lin, Rui-Qing; Zhu, Xing-Quan

2013-02-01

This study examined sequence variation in three mitochondrial DNA (mtDNA) regions, namely cytochrome c oxidase subunit 1 (cox1), NADH dehydrogenase subunit 5 (nad5) and cytochrome b (cytb), among Trichuris ovis isolates from different hosts in Guangdong Province, China. A portion of the cox1 (pcox1), nad5 (pnad5) and cytb (pcytb) genes was amplified separately from individual whipworms by PCR, and was subjected to sequencing from both directions. The size of the sequences of pcox1, pnad5 and pcytb was 618, 240 and 464 bp, respectively. Although the intra-specific sequence variations within T. ovis were 0-0.8% for pcox1, 0-0.8% for pnad5 and 0-1.9% for pcytb, the inter-specific sequence differences among members of the genus Trichuris were significantly higher, being 24.3-26.5% for pcox1, 33.7-56.4% for pnad5 and 24.8-26.1% for pcytb, respectively. Phylogenetic analyses using combined sequences of pcox1, pnad5 and pcytb, with three different computational algorithms (maximum likelihood, maximum parsimony and Bayesian inference), indicated that all of the T. ovis isolates grouped together with high statistical support. These findings demonstrated the existence of intra-specific variation in mtDNA sequences among T. ovis isolates from different hosts, and have implications for studying molecular epidemiology and population genetics of T. ovis.

Randomized, controlled, assessor-blind clinical trial to assess the efficacy of single- versus repeated-dose albendazole to treat ascaris lumbricoides, trichuris trichiura, and hookworm infection.

Science.gov (United States)

Adegnika, Ayola A; Zinsou, Jeannot F; Issifou, Saadou; Ateba-Ngoa, Ulysse; Kassa, Roland F; Feugap, Eliane N; Honkpehedji, Yabo J; Dejon Agobe, Jean-Claude; Kenguele, Hilaire M; Massinga-Loembe, Marguerite; Agnandji, Selidji T; Mordmüller, Benjamin; Ramharter, Michael; Yazdanbakhsh, Maria; Kremsner, Peter G; Lell, Bertrand

2014-05-01

In many regions where soil-transmitted helminth infections are endemic, single-dose albendazole is used in mass drug administration programs to control infections. There are little data on the efficacy of the standard single-dose administration compared to that of alternative regimens. We conducted a randomized, controlled, assessor-blinded clinical trial to determine the efficacies of standard and extended albendazole treatment against soil-transmitted helminth infection in Gabon. A total of 175 children were included. Adequate cure rates and egg reduction rates above 85% were found with a single dose of albendazole for Ascaris infection, 85% (95% confidence interval [CI], 73, 96) and 93.8% (CI, 87.6, 100), respectively, while two doses were necessary for hookworm infestation (92% [CI, 78, 100] and 92% [CI, 78, 100], respectively). However, while a 3-day regimen was not sufficient to cure Trichuris (cure rate, 83% [CI, 73, 93]), this regimen reduced the number of eggs up to 90.6% (CI, 83.1, 100). The rate ratios of two- and three-dose regimens compared to a single-dose treatment were 1.7 (CI, 1.1, 2.5) and 2.1 (CI, 1.5, 2.9) for Trichuris and 1.7 (CI, 1.0, 2.9) and 1.7 (CI, 1.0, 2.9) for hookworm. Albendazole was safe and well tolerated in all regimens. A single-dose albendazole treatment considerably reduces Ascaris infection but has only a moderate effect on hookworm and Trichuris infections. The single-dose option may still be the preferred regimen because it balances efficacy, safety, and compliance during mass drug administration, keeping in mind that asymptomatic low-level helminth carriage may also have beneficial effects. (This study has been registered at ClinicalTrials.gov under registration number NCT01192802.).

Genetic variation in codons 167, 198 and 200 of the beta-tubulin gene in whipworms (Trichuris spp.) from a range of domestic animals and wildlife

DEFF Research Database (Denmark)

Hansen, Tina Vicky Alstrup; Nejsum, Peter; Olsen, Annette

2013-01-01

A recurrent problem in the control of whipworm (Trichuris spp.) infections in many animal species and man is the relatively low efficacy of treatment with a single application of benzimidazoles (BZs). The presence of single nucleotide polymorphisms (SNPs) in codons 167, 198 and 200 in the beta...

Temperature and atmospheric pressure may be considered as predictors for the occurrence of bacillary dysentery in Guangzhou, Southern China

Directory of Open Access Journals (Sweden)

Tiegang Li

2014-06-01

Full Text Available Introduction The control of bacillary dysentery (BD remains a big challenge for China. Methods Negative binomial multivariable regression was used to study relationships between meteorological variables and the occurrence of BD during the period of 2006-2012. Results Each 1°C rise of temperature corresponded to an increase of 3.60% (95%CI, 3.03% to 4.18% in the monthly number of BD cases, whereas a 1 hPa rise in atmospheric pressure corresponded to a decrease in the number of BD cases by 2.85% (95%CI = 3.34% to 2.37% decrease. Conclusions Temperature and atmospheric pressure may be considered as predictors for the occurrence of BD in Guangzhou.

Comparative activity of some veterinary pharmaceutical products in swine dysentery

Directory of Open Access Journals (Sweden)

Cristina, T. Romeo

2010-12-01

Full Text Available One of the diseases that cause great damage in the pig breeding farms, Brachyspyra swine dysentery has a special importance because involve great losses both by growth failure and high mortality andsignificant costs to the prevention and control. The study was conducted in a swine farm in Timis County, where the disease was originally identified in autumn of year 2009. Cumulative adverse conditions have affected the rate of morbidity and mortality. Themost common clinical developments in the unit were usually acute and subacute. Research included: a comparative study of the effectiveness of tiamulin fumarate, hydrogenated and dimetridazole powder in sick acute and subacute forms in piglets, at the weaning period; the comparative study of efficiency in therapy of soluble tiamulin (the tiamulin fumarate-hydrogenated and of the injection of piglets effective and the study of growth indicators: average daily gain.Experiment IGroup I consisted in 15 piglets with an average weight per lot of 7.60 kg/head (batch weight: 114kg received p.o. dimetridazole insoluble powder (Romvac Bucharest, mixed in feed, for 5 days dose of 25 mg/kg.bw. During the observation, two mortalities were recorded, representing 13.33% of the treated lot. Other animals from the group were clinically cured, the signs of the disease gradually disappeared, and the temperature returned to normal enteric symptoms. The observation period after the 21 days of experiment, the batchweight was 114.2 kg, corresponding to growth registered 95.5 g/head/day.Group II, of 15 pigs with enteritis clinical signs, have had an average weight per lot of 7.48 kg/head, and he has undergone treatment with tiamulin product (Novartis Animal Health soluble granules, in drinking water. Treatments were performed for 5 consecutive days at a dose of 60 mg/liter of drinking water. In this group, diarrhea symptoms decreased and general status of the animals gradually improved, no mortality was recorded five days

Primer registro paleoparasitológico de Trichuris SP (nematoda, capilariidae en muestras asociadas a restos humanos del Holoceno tardío de Patagonia septentrional

Directory of Open Access Journals (Sweden)

Fugassa, Martín H.

2009-01-01

Full Text Available En el marco de los estudios paleoepidemiológicos que se realizan en restos arqueológicos asignados a poblaciones de cazadores-recolectores de Patagonia, este trabajo presenta información novedosa acerca de la presencia de parásitos en muestras de sedimento de las cavidades pélvicas correspondientes a individuos que habitaron la costa norte de Patagonia durante el Holoceno Tardío. Fueron analizados 3 casos de diferente cronología y en dos de ellos, los de menor antigüedad relativa, los resultados fueron positivos para la presencia de Trichuris trichiura. Es interesante mencionar al respecto que para el período que involucra a los dos casos positivos, la información arqueológica registra un proceso de intensificación en el que se explota una mayor diversidad de fauna y se incrementan los artefactos de molienda en los sitios. Entre las posibles causas propuestas para este proceso se encuentran el aumento demográfico y/o el nucleamiento poblacional en espacios favorables que comienzan a saturarse, hecho consistente con la evidencia cultural obtenida al momento y con la presencia de Trichuris sp.

A study on in vitro culture of Trichuris ovis in different physiological solutions at constant temperature, 37°C.

Science.gov (United States)

Singh, Tikam; Lal, S S

2011-06-01

The primary aim of in vitro culture of whipworms (Trichuris ovis) is to provide artificial conditions under which the life cycle of the parasites completed outside the host under controlled conditions. The physiological solutions used for the present study were sodium chloride (0.64%), Ringer's solution, Tyrode's solution, and Lock-Lewis solution. Parasites were collected from freshly slaughtered intestine of the host. The recovered parasites were washed with running tap water after that with normal saline. After washing parasites were put in four petridishes containing different physiological solutions. Observations were recorded after interval of every 8 h. The hundred percent survival of Trichuris ovis was observed at 32, 40, and 48 h in NaCl (0.64%), Ringer's, Tyrode's, and Lock-Lewis solution, respectively in case of both male and female parasites. In sodium chloride solution (0.64%) cent percent mortality was observed after 64 h of incubation in males and in case of females it was observed 72 h. In Ringer's solution cent percent mortality was observed after 72 in males and in females it was observed 80 h. In Tyrode's solution cent percent mortality was observed after 88 h in males and 96 h in females. In Lock-Lewis solution cent percent mortality was observed after 96 h in case of both the male and female parasites. Present study could be used to understand the effects of various drugs on the above parasites and also other intra-intestinal parasites.

Distinct DC subsets regulate adaptive Th1 and 2 responses during Trichuris muris infection

DEFF Research Database (Denmark)

Demiri, M.; Müller-Luda, K.; Agace, William Winston

2017-01-01

a high-dose infection and displayed impaired Th2 responses. Conversely, mice lacking IRF8-dependent cDC cleared a low-dose infection and displayed an impaired Th1 response while increased production of Th2 cytokines. Finally, mice lacking both IRF4- and IRF8-dependent cDC were able to generate a Th2...... response and clear a low-dose infection. Collectively, these results suggest that IRF4- and IRF8-dependent cDC act antagonistically during T. muris infection, and demonstrate that intestinal Th2 responses can be generated towards T. muris in the absence of IRF4-dependent cDC.......Low- and high-dose infections with the murine large intestinal nematode Trichuris muris are associated with induction of adaptive Th1 and Th2 responses, respectively, in mesenteric lymph nodes (MLN). Classical dendritic cells (cDC) accumulate in the large intestinal mucosa and MLN upon T. muris...

Applied mixed generalized additive model to assess the effect of temperature on the incidence of bacillary dysentery and its forecast.

Directory of Open Access Journals (Sweden)

Weiping Ma

Full Text Available BACKGROUND: Association between bacillary dysentery (BD disease and temperature has been reported in some studies applying Poisson regression model, however the effect estimation might be biased due to the data autocorrelation. Furthermore the temperature effect distributed in the time of different lags has not been studied either. The purpose of this work was to obtaining the association between the BD counts and the climatic factors such as temperature in the form of the weighted averages, concerning the autocorrelation pattern of the model residuals, and to make short term predictions using the model. The data was collected in the city of Shanghai from 2004 to 2008. METHODS: We used mixed generalized additive model (MGAM to analyze data on bacillary dysentery, temperature and other covariates with autoregressive random effect. Short term predictions were made using MGAM with the moving average of the BD counts. MAIN RESULTS: Our results showed that temperature was significant linearly associated with the logarithm of BD count for temperature in the range from 12°C to 22°C. Optimal weights in the temperature effect have been obtained, in which the one of 1-day-lag was close to 0, and the one of 2-days-lag was the maximum (p-value of the difference was less than 0.05. The predictive model was showing good fitness on the internal data with R(2 value 0.875, and the good short term prediction effect on the external data with correlation coefficient to be 0.859. CONCLUSION: According to the model estimation, corresponding Risk Ratio to affect BD was close to 1.1 when temperature effect goes up for 1°C in the range from 12°C to 22°C. And the 1-day incubation period could be inferred from the model estimation. Good prediction has been made using the predictive MGAM.

Reduced antibody responses against Plasmodium falciparum vaccine candidate antigens in the presence of Trichuris trichiura

DEFF Research Database (Denmark)

Esen, Meral; Mordmüller, Benjamin; de Salazar, Pablo Martinez

2012-01-01

BACKGROUND: Helminth infections are highly prevalent in the tropics and may have an effect on immune responses to vaccines due to their immunomodulatory effect. The prevalence of helminth infections in young children, the target group for malaria and most other vaccines, is high. Therefore we...... assessed the influence of helminth infection on vaccine-induced immune responses in a phase I clinical trial of the malaria vaccine candidate GMZ2. METHODS: Twenty Gabonese preschool-age children were vaccinated with GMZ2, a blood stage malaria vaccine candidate. Humoral immune response against the vaccine...... antigens and parasitological status were assessed. Vaccine-specific antibody concentrations and memory B-cell numbers were compared in worm infected and non-infected participants. RESULTS: Antibody response to GMZ2 was 3.4-fold (95% confidence interval: 1.6, 7.4) higher in Trichuris trichiura negative...

Activity of oxantel pamoate monotherapy and combination chemotherapy against Trichuris muris and hookworms: revival of an old drug.

Directory of Open Access Journals (Sweden)

Jennifer Keiser

Full Text Available BACKGROUND: It is widely recognized that only a handful of drugs are available against soil-transmitted helminthiasis, all of which are characterized by a low efficacy against Trichuris trichiura, when administered as single doses. The re-evaluation of old, forgotten drugs is a promising strategy to identify alternative anthelminthic drug candidates or drug combinations. METHODOLOGY: We studied the activity of the veterinary drug oxantel pamoate against Trichuris muris, Ancylostoma ceylanicum and Necator americanus in vitro and in vivo. In addition, the dose-effect of oxantel pamoate combined with albendazole, mebendazole, levamisole, pyrantel pamoate and ivermectin was studied against T. muris in vitro and additive or synergistic combinations were followed up in vivo. PRINCIPAL FINDINGS: We calculated an ED50 of 4.7 mg/kg for oxantel pamoate against T. muris in mice. Combinations of oxantel pamoate with pyrantel pamoate behaved antagonistically in vitro (combination index (CI = 2.53. Oxantel pamoate combined with levamisole, albendazole or ivermectin using ratios based on their ED50s revealed antagonistic effects in vivo (CI = 1.27, 1.90 and 1.27, respectively. A highly synergistic effect (CI = 0.15 was observed when oxantel pamoate-mebendazole was administered to T. muris-infected mice. Oxantel pamoate (10 mg/kg lacked activity against Ancylostoma ceylanicum and Necator americanus in vivo. CONCLUSION/SIGNIFICANCE: Our study confirms the excellent trichuricidal properties of oxantel pamoate. Since the drug lacks activity against hookworms it is necessary to combine oxantel pamoate with a partner drug with anti-hookworm properties. Synergistic effects were observed for oxantel pamoate-mebendazole, hence this combination should be studied in more detail. Since, of the standard drugs, albendazole has the highest efficacy against hookworms, additional investigations on the combination effect of oxantel pamoate-albendazole should be

Efficacy of nitroscanate against naturally acquired infection with Ancylostoma caninum, Dipylidium caninum, and Trichuris vulpis in dogs.

Science.gov (United States)

Craig, T M; Mercer, S H; Wade, C G; Lynn, R C

1991-04-01

Eighteen dogs with naturally acquired helminth infections were used to evaluate the efficacy of nitroscanate against Ancylostoma caninum, Dipylidium caninum, and Trichuris vulpis. Approximately 15 minutes before treatment, the dogs were given 100 to 200 g of canned dog food. Ten dogs were treated with nitroscanate (50 mg/kg of body weight, PO), and 8 dogs were given placebo tablets PO. The dogs were euthanatized and necropsied 10 days after treatment and helminths were recovered from the small intestine and cecum. On the basis of the number of worms recovered from treated dogs vs the number recovered from control dogs, we determined the efficacy of nitroscanate to be 99.6% against A caninum, 99.8% against D caninum, and 0% against T vulpis.

Cellular distribution, purification and electrophoretic properties of malate dehydrogenase in Trichuris ovis and inhibition by benzimidazoles and pyrimidine derivatives.

Science.gov (United States)

Sanchez-Moreno, M; Ortega, J E; Valero, A

1989-12-01

High levels of malate dehydrogenase were found in Trichuris ovis. Two molecular forms of the enzyme, of different cellular location and electrophoretic pattern, were isolated and purified. The activity of soluble malate dehydrogenase was greater than that of mitochondrial malate dehydrogenase. Both forms also displayed different electrophoretic profiles in comparison with purified extracts from goat (Capra hircus) liver. Substrate concentration directly affected enzyme activity. Host and parasite malate dehydrogenase activity were both inhibited by a series of benzimidazoles and pyrimidine-derived compounds, some of which markedly reduced parasite enzyme activity, but not host enzyme activity. Percentage inhibition by some pyrimidine derivatives was greater than that produced by benzimidazoles.

Efficacy of fenbendazole and milbemycin oxime for treating baboons (Papio cynocephalus anubis) infected with Trichuris trichiura.

Science.gov (United States)

Reichard, Mason V; Wolf, Roman F; Carey, David W; Garrett, Jennifer Jane; Briscoe, Heather A

2007-03-01

We evaluated the efficacy of fenbendazole (FBZ) and milbemycin oxime (MO) in the treatment of baboons (Papio cynocephalus anubis) with naturally acquired Trichuris trichiura infection by comparing fecal egg count reduction (FECR) tests. We assigned 7 baboons, each singly housed and confirmed infected with T. trichiura, to treatment groups of FBZ (n=3) or MO (n=3), or as a control (n=1). All (100%) baboons that received FBZ stopped shedding T. trichiura eggs within 6 d of treatment, and fecal egg counts remained negative at 65 d after treatment. Although the number of T. trichiura eggs shed per gram of feces from 2 (67%) baboons decreased significantly after the second treatment with MO, this regimen never totally eliminated eggs of T. trichiura. The results of our study indicate that FBZ was more effective for treating baboons with T. trichiura than was MO.

Oxantel pamoate-albendazole for Trichuris trichiura infection.

Science.gov (United States)

Speich, Benjamin; Ame, Shaali M; Ali, Said M; Alles, Rainer; Huwyler, Jörg; Hattendorf, Jan; Utzinger, Jürg; Albonico, Marco; Keiser, Jennifer

2014-02-13

Infections with soil-transmitted helminths (Ascaris lumbricoides, hookworm, and Trichuris trichiura) are widespread and often occur concomitantly. These parasitic-worm infections are typically treated with albendazole or mebendazole, but both drugs show low efficacy against T. trichiura. Albendazole is the drug of choice against hookworm. In this double-blind trial conducted on Pemba Island, Tanzania, we randomly assigned children, 6 to 14 years of age, to receive one of four treatments: oxantel pamoate at a dose of 20 mg per kilogram of body weight, plus 400 mg of albendazole, administered on consecutive days; oxantel pamoate at a single dose of 20 mg per kilogram; albendazole at a single dose of 400 mg; or mebendazole at a single dose of 500 mg. We assessed the efficacy and safety profile of oxantel pamoate-albendazole when used in the treatment of T. trichiura infection (primary outcome) and concomitant soil-transmitted helminth infection (secondary outcome). Efficacy was determined by means of assessment of the cure rate and egg-reduction rate. Adverse events were assessed four times after treatment. Complete data were available for 458 children, of whom 450 were infected with T. trichiura, 443 with hookworm, and 293 with A. lumbricoides. The cure rate of T. trichiura infection was significantly higher with oxantel pamoate-albendazole than with mebendazole (31.2% vs. 11.8%, P=0.001), as was the egg-reduction rate (96.0% [95% confidence interval {CI}, 93.5 to 97.6] vs. 75.0% [95% CI, 64.2 to 82.0]). The cure rate with albendazole (2.6%) and the egg-reduction rate with albendazole (45.0%; 95% CI, 32.0 to 56.4) were significantly lower than the rates with mebendazole (P=0.02 for the comparison of cure rates). Oxantel pamoate had low efficacy against hookworm and A. lumbricoides. Adverse events (mainly mild) were reported by 30.9% of all children. Treatment with oxantel pamoate-albendazole resulted in higher cure and egg-reduction rates for T. trichiura infection

Are we paying too much attention to cardio-pulmonary nematodes and neglecting old-fashioned worms like Trichuris vulpis?

Directory of Open Access Journals (Sweden)

Traversa Donato

2011-03-01

Full Text Available Abstract Trichuris vulpis, the dog whipworm, causes an intestinal parasitosis of relevance in current canine veterinary practice. Its occurrence is well-known in pets, kennelled dogs and stray animals, and its eggs contaminate the ground in urban areas all over the world. Moreover, T. vulpis has been occasionally incriminated, though not convincingly substantiated, as a cause of zoonosis. This nematode is erroneously considered an "old-fashioned" pathogen with a consequent lack of up- to- date knowledge on several aspects of the infection. These, in turn, are still controversial and need to be studied in greater depth. This article reviews current knowledge of T. vulpis, together with a discussion of critical points in epidemiology, zoonotic hazard, diagnosis and treatment of canine trichurosis.

Moderate to heavy infections of Trichuris trichiura affect cognitive function in Jamaican school children.

Science.gov (United States)

Nokes, C; Grantham-McGregor, S M; Sawyer, A W; Cooper, E S; Robinson, B A; Bundy, D A

1992-06-01

A double-blind placebo trial was conducted to determine the effect of moderate to high loads of Trichuris trichiura (whipworm) infection on the cognitive functions of 159 school children (age 9-12 years) in Jamaica. Infected children were randomly assigned to Treatment or Placebo groups. A third group of randomly selected uninfected children were assigned to a Control for comparative purposes. The improvement in cognitive function was evaluated using a stepwise multiple linear regression, designed to control for any confounding variables. The expulsion of worms led to a significant improvement in tests of auditory short-term memory (P less than 0.02; P less than 0.01), and a highly significant improvement in the scanning and retrieval of long-term memory (P less than 0.001). After 9 weeks, treated children were no longer significantly different from an uninfected Control group in these three tests of cognitive function. The removal of T. trichiura was more important than Ascaris lumbricoides in determining this improvement. The results suggest that whipworm infection has an adverse effect on certain cognitive functions which is reversible by therapy.

A Randomised, Double-blind, Placebo-controlled Trial of Trichuris suis ova in Active Crohn's Disease

DEFF Research Database (Denmark)

Schölmerich, Jürgen; Fellermann, Klaus; Seibold, Frank W

2017-01-01

Background and Aims: To investigate the efficacy and safety of three different dosages of embryonated, viable eggs of Trichuris suis [TSO] versus placebo for induction of remission in mildly-to-moderately active ileocolonic, uncomplicated Crohn's disease [CD]. Methods: Adults with active CD [n.......2%, and 47.2% of TSO 250, TSO 2500, and TSO 7500 patients, respectively, and in 42.9% of placebo recipients. TSO induced a dose-dependent immunological response. There was no response regarding laboratory markers of inflammation. Other secondary efficacy variables also showed no advantage of TSO over placebo...... for treatment of active CD. Administration of TSO did not result in any serious adverse drug reaction. Review of non-serious suspected adverse drug reactions following TSO did not reveal any safety concerns. Conclusions: Administration of 250-7500 TSO fortnightly over 12 weeks was safe and showed a dose...

Excreted/secreted Trichuris suis products reduce barrier function and suppress inflammatory cytokine production of intestinal epithelial cells

DEFF Research Database (Denmark)

Hiemstra, I. H.; Klaver, E. J.; Vrijland, K.

2014-01-01

The administration of helminths is considered a promising strategy for the treatment of autoimmune diseases due to their immunomodulatory properties. Currently, the application of the helminth Trichuris suis as a treatment for Crohn's disease is being studied in large multi-center clinical trials....... The intestinal epithelium forms an efficient barrier between the intestinal lumen containing the microbial flora and helminths, and dendritic cells (DCs) present in the lamina propria that determine the TH response. Here, we investigated how excreted/secreted (E/S) products of T. suis affect the barrier function...... of intestinal epithelial cells (IECs) in order to reach the DCs and modulate the immune response. We show that T. suis E/S products reduce the barrier function and the expression of the tight junction proteins EMP-1 and claudin-4 in IEC CMT93/69 monolayers in a glycan-dependent manner. This resulted...

Prevalence and intensity of infections of Ascaris lumbricoides and Trichuris trichiura and associated socio-demographic variables in four rural Honduran communities

Directory of Open Access Journals (Sweden)

Smith HM

2001-01-01

Full Text Available Between January and March 1998, a cross-sectional survey was carried out in four rural communities in Honduras, Central America. We examined the prevalence and intensity of Ascaris lumbricoides and Trichuris trichiura infections among 240 fecal specimens, and the association between selected socio-demographic variables and infection for 62 households. The overall prevalence of A. lumbricoides and T. trichiura was 45% (95% CI 39.0-51.9 and 38% (95% CI 31.8-44.4 respectively. The most intense infections for Ascaris and Trichuris were found in children aged 2-12 years old. By univariate analysis variables associated with infections of A. lumbricoides were: number of children 2-5 years old (p=0.001, level of formal education of respondents (p=0.01, reported site of defecation of children in households (p=0.02, households with children who had a recent history of diarrhea (p=0.002, and the location of households (p=0.03. Variables associated with both A. lumbricoides and T. trichiura infection included: number of children 6-14 years old (p=0.01, p=0.04, respectively, ownership of a latrine (p=0.04, p=0.03, respectively and coinfection with either helminth (p=0.001, p=0.001, respectively. By multivariate analysis the number of children 2-5 years living in the household, (p=0.01, odds ratio (OR=22.2, children with a recent history of diarrhea (p=0.0, OR=39.8, and infection of household members with T. trichiura (p=0.02, OR=16.0 were associated with A. lumbricoides infection. The number of children 6-14 years old in the household was associated with both A. lumbricoides and T. trichiura infection (p=0.04, p=0.01, OR=19.2, OR=5.2, respectively.

Symptoms after ingestion of pig whipworm Trichuris suis eggs in a randomized placebo-controlled double-blind clinical trial

DEFF Research Database (Denmark)

Bager, Peter; Kapel, Christian Moliin Outzen; Roepstorff, Allan Knud

2011-01-01

by a fluoroenzymeimmunoassay (Phadia ApS). During 163 days complete follow-up, subjects ingesting T. suis eggs (N = 49) had a three to 19-fold higher rate of events (median duration, 2 days) with gastrointestinal reactions (moderate to severe flatulence, diarrhea, and upper abdominal pain) compared with placebo subjects (N......Symptoms after human infection with the helminth Trichuris suis have not previously been described. Exposure to helminths has been suggested as immune therapy against allergy and autoimmune diseases. We randomized adults with allergic rhinitis to ingest a dose of 2500 T. suis eggs or placebo every......-hoc analyses of gastrointestinal reactions. Adverse events and severity (mild, moderate, severe) were recorded daily by subjects, classified by organ using MedDRA 10.0, and event rates compared between subjects on T. suis treatment vs. subjects on placebo. T. suis-specific serum IgG antibodies were measured...

Symptoms after ingestion of pig whipworm Trichuris suis eggs in a randomized placebo-controlled double-blind clinical trial

DEFF Research Database (Denmark)

Bager, Peter; Kapel, Christian Moliin Outzen; Roepstorff, Allan Knud

2011-01-01

Symptoms after human infection with the helminth Trichuris suis have not previously been described. Exposure to helminths has been suggested as immune therapy against allergy and autoimmune diseases. We randomized adults with allergic rhinitis to ingest a dose of 2500 T. suis eggs or placebo every...... by a fluoroenzymeimmunoassay (Phadia ApS). During 163 days complete follow-up, subjects ingesting T. suis eggs (N = 49) had a three to 19-fold higher rate of events (median duration, 2 days) with gastrointestinal reactions (moderate to severe flatulence, diarrhea, and upper abdominal pain) compared with placebo subjects (N...... of episodes with onset before day 42 was ≤ 14 days in 80% of affected subjects. Age, gender, total IgE, and recent intestinal symptoms at baseline did not predict gastrointestinal side effects. In conclusion, during the first 2 months, repeated ingestions of 2500 T. suis eggs caused frequent gastrointestinal...

Identification of a New Antimicrobial Resistance Gene Provides Fresh Insights Into Pleuromutilin Resistance in Brachyspira hyodysenteriae, Aetiological Agent of Swine Dysentery

Directory of Open Access Journals (Sweden)

Roderick M. Card

2018-06-01

Full Text Available Brachyspira hyodysenteriae is the aetiological agent of swine dysentery, a globally distributed disease that causes profound economic loss, impedes the free trade and movement of animals, and has significant impact on pig health. Infection is generally treated with antibiotics of which pleuromutilins, such as tiamulin, are widely used for this purpose, but reports of resistance worldwide threaten continued effective control. In Brachyspira hyodysenteriae pleuromutilin resistance has been associated with mutations in chromosomal genes encoding ribosome-associated functions, however the dynamics of resistance acquisition are poorly understood, compromising stewardship efforts to preserve pleuromutilin effectiveness. In this study we undertook whole genome sequencing (WGS and phenotypic susceptibility testing of 34 UK field isolates and 3 control strains to investigate pleuromutilin resistance in Brachyspira hyodysenteriae. Genome-wide association studies identified a new pleuromutilin resistance gene, tva(A (tiamulin valnemulin antibiotic resistance, encoding a predicted ABC-F transporter. In vitro culture of isolates in the presence of inhibitory or sub-inhibitory concentrations of tiamulin showed that tva(A confers reduced pleuromutilin susceptibility that does not lead to clinical resistance but facilitates the development of higher-level resistance via mutations in genes encoding ribosome-associated functions. Genome sequencing of antibiotic-exposed isolates identified both new and previously described mutations in chromosomal genes associated with reduced pleuromutilin susceptibility, including the 23S rRNA gene and rplC, which encodes the L3 ribosomal protein. Interesting three antibiotic-exposed isolates harboured mutations in fusA, encoding Elongation Factor G, a gene not previously associated with pleuromutilin resistance. A longitudinal molecular epidemiological examination of two episodes of swine dysentery at the same farm indicated

Multifunctional Thioredoxin-Like Protein from the Gastrointestinal Parasitic Nematodes Strongyloides ratti and Trichuris suis Affects Mucosal Homeostasis

Directory of Open Access Journals (Sweden)

Dana Ditgen

2016-01-01

Full Text Available The cellular redox state is important for the regulation of multiple functions and is essential for the maintenance of cellular homeostasis and antioxidant defense. In the excretory/secretory (E/S products of Strongyloides ratti and Trichuris suis sequences for thioredoxin (Trx and Trx-like protein (Trx-lp were identified. To characterize the antioxidant Trx-lp and its interaction with the parasite’s mucosal habitat, S. ratti and T. suis Trx-lps were cloned and recombinantly expressed. The primary antioxidative activity was assured by reduction of insulin and IgM. Further analysis applying an in vitro mucosal 3D-cell culture model revealed that the secreted Trx-lps were able to bind to monocytic and intestinal epithelial cells and induce the time-dependent release of cytokines such as TNF-α, IL-22, and TSLP. In addition, the redox proteins also possessed chemotactic activity for monocytic THP-1 cells and fostered epithelial wound healing activity. These results confirm that the parasite-secreted Trx-lps are multifunctional proteins that can affect the host intestinal mucosa.

Treatment rates for injectable tiamulin and lincomycin as an estimate of morbidity in a swine herd with endemic swine dysentery.

Science.gov (United States)

Walczak, Krysia; Friendship, Robert; Brockoff, Egan; Greer, Amy; Poljak, Zvonimir

2017-05-01

Treatment can be used as an indirect measure of morbidity, and treatment records can be used to describe disease patterns in a population. The aim of this study was to describe the rates of treatments with tiamulin and lincomycin by the intramuscular route in cohorts of pigs affected by swine dysentery. Data from treatment records from 19 cohorts of a 1500-head grower-finisher barn were analyzed using Poisson regression to determine factors associated with rates of treatment. Serial interval and reproductive numbers were extracted. Treatment rates displayed marked seasonality. The mean serial interval was estimated at 17 d with variability among batches. In the early period of most cohorts, the effective reproductive number did not exceed 1, and the highest estimate was 2.15 (95% CI: 1.46, 3.20). The average days-to-first treatment was 4.8 which suggests that pigs could have been infected at time of entry. The information about possible sources of infection and likely seasonality should be considered when developing disease and infection control measures in affected barns.

Seasonal and geographical distribution of bacillary dysentery (shigellosis) and associated climate risk factors in Kon Tam Province in Vietnam from 1999 to 2013.

Science.gov (United States)

Lee, Hu Suk; Ha Hoang, T T; Pham-Duc, Phuc; Lee, Mihye; Grace, Delia; Phung, Dac Cam; Thuc, Vu Minh; Nguyen-Viet, Hung

2017-06-21

Bacillary dysentery (BD) is an acute bacterial infection of the intestine caused by Shigella spp., with clinical symptoms ranging from fever to bloody diarrhoea to abdominal cramps to tenesmus. In Vietnam, enteric bacterial pathogens are an important cause of diarrhoea and most cases in children under 5 years of age are due to Shigella strains. The serogroups S. flexneri and S. sonnei are considered to be the most common. The main objective of this study was to, for the first time, assess the seasonal patterns and geographic distribution of BD in Vietnam, and to determine the climate risk factors associated with the incidence of BD in Kon Tum Province, where the highest rate of bacillary dysentery was observed from 1999 to 2013. The seasonal patterns and geographic distribution of BD was assessed in Vietnam using a seasonal-trend decomposition procedure based on loess. In addition, negative binomial regression models were used to determine the climate risk factors associated with the incidence of BD in Kon Tum Province, from 1999 to 2013. Overall, incidence rates of BD have slightly decreased over time (except for an extremely high incidence in 2012 in the north of Vietnam). The central regions (north/south central coast and central highlands) had relatively high incidence rates, whereas the northwest/east and Red River Delta regions had low incidence rates. Overall, seasonal plots showed a high peak in the mid-rainy reason and a second smaller peak in the early or late rainy season. The incidence rates significantly increased between May and October ("wet season") across the country. In Kon Tum Province, temperature, humidity, and precipitation were found to be positively associated with the incidence of BD. Our findings provide insights into the seasonal patterns and geographic distribution of BD in Vietnam and its associated climate risk factors in Kon Tum Province. This study may help clinicians and the general public to better understand the timings of

Shrinking risk profiles after deworming of children in Port Elizabeth, South Africa, with special reference to Ascaris lumbricoides and Trichuris trichiura.

Science.gov (United States)

Müller, Ivan; Gall, Stefanie; Beyleveld, Lindsey; Gerber, Markus; Pühse, Uwe; Du Randt, Rosa; Steinmann, Peter; Zondie, Leyli; Walter, Cheryl; Utzinger, Jürg

2017-11-27

Risk maps facilitate discussion among different stakeholders and provide a tool for spatial targeting of health interventions. We present maps documenting shrinking risk profiles after deworming with respect to soil-transmitted helminthiasis among schoolchildren from disadvantaged neighbourhoods in Port Elizabeth, South Africa. Children were examined for soil-transmitted helminth infections using duplicate Kato-Katz thick smears in March 2015, October 2015 and May 2016, and subsequently treated with albendazole after each survey. The mean infection intensities for Ascaris lumbricoides were 9,554 eggs per gram of stool (EPG) in March 2015, 4,317 EPG in October 2015 and 1,684 EPG in March 2016. The corresponding figures for Trichuris trichiura were 664 EPG, 331 EPG and 87 EPG. Repeated deworming shrank the risk of soil-transmitted helminthiasis, but should be complemented by other public health measures.

Immune expulsion of Trichuris muris from resistant mice: suppression by irradiation and restoration by transfer of lymphoid cells

International Nuclear Information System (INIS)

Wakelin, D.; Selby, G.R.

1976-01-01

Lethal irradiation (850 rads of x rays) of mice made resistant to Trichuris muris markedly depressed their ability to expel a challenge infection. Expulsion was restored within 7 to 10 days when MLNC from uninfected mice were transferred on the day of infection, but no significant restoration was evident after transfer of immune serum. Transfer of Bm alone had no restorative effect within 10 days and no synergism was seen when both BM and MLNC were transferred. MLNC from uninfected donors did not restore challenge expulsion when transfer was delayed until day 7 and the mice were killed 3 days later, although MLNC from resistant donors were effective within this time. When irradiated mice were given BM and the challenge infection allowed to continue for 15 days expulsion was restored, as it was when challenge was delayed for 7 days after BM transfer in thymectomized mice. The results confirm that expulsion of T. muris involves both antibody-mediated and lymphoid cell-mediated phases and offer no evidence for the involvement of other cell types. (author)

Antigenic Cross-reactivity among Haemonchus contortus, Oesophagostomum columbianum and Trichuris ovis of Goat

Directory of Open Access Journals (Sweden)

Ruma JAS

2016-12-01

Full Text Available Background: Cross antigenicity is the major problem in developing a reliable tool for immunodiagnosis and immunoprophylaxis of parasitic diseases. Mixed infection due to different types of gastrointestinal parasites is more common than single species infection under field condition.Methods: The present study was undertaken to detect antigenic cross-reactivity among Haemonchus contortus, Oesophagostomum columbianum and Trichuris ovis of goats by SDS-PAGE and western blot analysis using hyperimmune sera (HIS rose in rabbit separately against the antigens of the three nematode species.Results: Thirteen, 16 and 14 polypeptides in crude somatic antigen (CSAg of H. contortus (CSAg-Hc, O. columbianum (CSAg-Oc and T. ovis (CSAg-To, respectively, were resolved in SDS PAGE analyses. It was revealed that 54 kDa peptide was shared by H.contortus and O. columbianum, whereas 47 kDa peptide was shared by O. columbianum and T. ovis. Western blot analyses revealed that three immunogenic polypeptides (MW 54, 49 and 42 kDa in CSAg-Hc, five in CSAg-Oc (54, 47, 44, 38 and 35.5 kDa and CSAg-To and five polypeptides (90, 51, 47, 39.5 and 31 kDa in CSAg-To cross-reacted with the heterologous HIS. Four species-specific immunoreactive polypeptides (92, 85, 65 and 39 kDa of H. contortus and two (72 & 26 kDa in O. columbianum were also identified in the study. Conclusion: The shared polypeptides and species-specific polypeptides might be evaluated as protective antigen and subsequently exploitation for developing immunodiagnostic and for immunoprophylactic tools of for these common nematode species. 

Antigenic Cross-reactivity among Haemonchus contortus, Oesophagostomum columbianum and Trichuris ovis of Goat.

Science.gov (United States)

Jas, Ruma; Ghosh, Joydeb; DAS, Kinsuk

2016-01-01

Cross antigenicity is the major problem in developing a reliable tool for immunodiagnosis and immunoprophylaxis of parasitic diseases. Mixed infection due to different types of gastrointestinal parasites is more common than single species infection under field condition. The present study was undertaken to detect antigenic cross-reactivity among Haemonchus contortus, Oesophagostomum columbianum and Trichuris ovis of goats by SDS-PAGE and western blot analysis using hyperimmune sera (HIS) rose in rabbit separately against the antigens of the three nematode species. Thirteen, 16 and 14 polypeptides in crude somatic antigen (CSAg) of H. contortus (CSAg-Hc), O. columbianum (CSAg-Oc) and T. ovis (CSAg-To), respectively, were resolved in SDS PAGE analyses. It was revealed that 54 kDa peptide was shared by H.contortus and O. columbianum , whereas 47 kDa peptide was shared by O. columbianum and T. ovis . Western blot analyses revealed that three immunogenic polypeptides (MW 54, 49 and 42 kDa) in CSAg-Hc, five in CSAg-Oc (54, 47, 44, 38 and 35.5 kDa) and CSAg-To and five polypeptides (90, 51, 47, 39.5 and 31 kDa) in CSAg-To cross-reacted with the heterologous HIS. Four species-specific immunoreactive polypeptides (92, 85, 65 and 39 kDa) of H. contortus and two (72 & 26 kDa) in O. columbianum were also identified in the study. The shared polypeptides and species-specific polypeptides might be evaluated as protective antigen and subsequently exploitation for developing immunodiagnostic and for immunoprophylactic tools of for these common nematode species.

The synergistic effect of concomitant schistosomiasis, hookworm, and trichuris infections on children's anemia burden.

Directory of Open Access Journals (Sweden)

Amara E Ezeamama

2008-06-01

Full Text Available To estimate the degree of synergism between helminth species in their combined effects on anemia.Quantitative egg counts using the Kato-Katz method were determined for Ascaris lumbricoides, hookworm, Trichuris trichiura, and Schistosoma japonicum in 507 school-age children from helminth-endemic villages in The Philippines. Infection intensity was defined in three categories: uninfected, low, or moderate/high (M+. Anemia was defined as hemoglobin <11 g/dL. Logistic regression models were used to estimate odds ratios (OR, 95% confidence intervals (CI, and synergy index for pairs of concurrent infections.M+ co-infection of hookworm and S. japonicum (OR = 13.2, 95% CI: 3.82-45.5 and of hookworm and T. trichiura (OR = 5.34, 95% CI: 1.76-16.2 were associated with higher odds of anemia relative to children without respective M+ co-infections. For co-infections of hookworm and S. japonicum and of T. trichiura and hookworm, the estimated indices of synergy were 2.9 (95% CI: 1.1-4.6 and 1.4 (95% CI: 0.9-2.0, respectively.Co-infections of hookworm and either S. japonicum or T. trichiura were associated with higher levels of anemia than would be expected if the effects of these species had only independent effects on anemia. This suggests that integrated anti-helminthic treatment programs with simultaneous deworming for S. japonicum and some geohelminths could yield a greater than additive benefit for reducing anemia in helminth-endemic regions.

Spatiotemporal pattern of bacillary dysentery in China from 1990 to 2009: what is the driver behind?

Directory of Open Access Journals (Sweden)

Zhiwei Xu

Full Text Available Little is known about the spatiotemporal pattern of bacillary dysentery (BD in China. This study assessed the geographic distribution and seasonality of BD in China over the past two decades.Data on monthly BD cases in 31 provinces of China from January 1990 to December 2009 obtained from Chinese Center for Disease Control and Prevention, and data on demographic and geographic factors, as well as climatic factors, were compiled. The spatial distributions of BD in the four periods across different provinces were mapped, and heat maps were created to present the seasonality of BD by geography. A cosinor function combined with Poisson regression was used to quantify the seasonal parameters of BD, and a regression analysis was conducted to identify the potential drivers of morbidity and seasonality of BD.Although most regions of China have experienced considerable declines in BD morbidity over the past two decades, Beijing and Ningxia still had high BD morbidity in 2009. BD morbidity decreased more slowly in North-west China than other regions. BD in China mainly peaked from July to September, with heterogeneity in peak time between regions. Relative humidity was associated with BD morbidity and peak time, and latitude was the major predictor of BD amplitude.The transmission of BD was heterogeneous in China. Improved sanitation and hygiene in North-west China, and better access to clean water and food in the big floating population in some metropolises could be the focus of future preventive interventions against BD. BD control efforts should put more emphasis on those dry areas in summer.

The Rising Dominance of Shigella sonnei: An Intercontinental Shift in the Etiology of Bacillary Dysentery.

Directory of Open Access Journals (Sweden)

Corinne N Thompson

Full Text Available Shigellosis is the major global cause of dysentery. Shigella sonnei, which has historically been more commonly isolated in developed countries, is undergoing an unprecedented expansion across industrializing regions in Asia, Latin America, and the Middle East. The precise reasons underpinning the epidemiological distribution of the various Shigella species and this global surge in S. sonnei are unclear but may be due to three major environmental pressures. First, natural passive immunization with the bacterium Plesiomonas shigelloides is hypothesized to protect populations with poor water supplies against S. sonnei. Improving the quality of drinking water supplies would, therefore, result in a reduction in P. shigelloides exposure and a subsequent reduction in environmental immunization against S. sonnei. Secondly, the ubiquitous amoeba species Acanthamoeba castellanii has been shown to phagocytize S. sonnei efficiently and symbiotically, thus allowing the bacteria access to a protected niche in which to withstand chlorination and other harsh environmental conditions in temperate countries. Finally, S. sonnei has emerged from Europe and begun to spread globally only relatively recently. A strong selective pressure from localized antimicrobial use additionally appears to have had a dramatic impact on the evolution of the S. sonnei population. We hypothesize that S. sonnei, which exhibits an exceptional ability to acquire antimicrobial resistance genes from commensal and pathogenic bacteria, has a competitive advantage over S. flexneri, particularly in areas with poorly regulated antimicrobial use. Continuing improvement in the quality of global drinking water supplies alongside the rapid development of antimicrobial resistance predicts the burden and international distribution of S. sonnei will only continue to grow. An effective vaccine against S. sonnei is overdue and may become one of our only weapons against this increasingly dominant and

Chronic Trichuris muris infection causes neoplastic change in the intestine and exacerbates tumour formation in APC min/+ mice.

Directory of Open Access Journals (Sweden)

Kelly S Hayes

2017-06-01

Full Text Available Incidences of infection-related cancers are on the rise in developing countries where the prevalence of intestinal nematode worm infections are also high. Trichuris muris (T. muris is a murine gut-dwelling nematode that is the direct model for human T. trichiura, one of the major soil-transmitted helminth infections of humans. In order to assess whether chronic infection with T. muris does indeed influence the development of cancer hallmarks, both wild type mice and colon cancer model (APC min/+ mice were infected with this parasite. Parasite infection in wild type mice led to the development of neoplastic change similar to that seen in mice that had been treated with the carcinogen azoxymethane. Additionally, both chronic and acute infection in the APCmin/+ mice led to an enhanced tumour development that was distinct to the site of infection suggesting systemic control. By blocking the parasite induced T regulatory response in these mice, the increase in the number of tumours following infection was abrogated. Thus T. muris infection alone causes an increase in gut pathologies that are known to be markers of cancer but also increases the incidence of tumour formation in a colon cancer model. The influence of parasitic worm infection on the development of cancer may therefore be significant.

Human parasites in the Roman World: health consequences of conquering an empire.

Science.gov (United States)

Mitchell, Piers D

2017-01-01

The archaeological evidence for parasites in the Roman era is presented in order to demonstrate the species present at that time, and highlight the health consequences for people living under Roman rule. Despite their large multi-seat public latrines with washing facilities, sewer systems, sanitation legislation, fountains and piped drinking water from aqueducts, we see the widespread presence of whipworm (Trichuris trichiura), roundworm (Ascaris lumbricoides) and Entamoeba histolytica that causes dysentery. This would suggest that the public sanitation measures were insufficient to protect the population from parasites spread by fecal contamination. Ectoparasites such as fleas, head lice, body lice, pubic lice and bed bugs were also present, and delousing combs have been found. The evidence fails to demonstrate that the Roman culture of regular bathing in the public baths reduced the prevalence of these parasites. Fish tapeworm was noted to be widely present, and was more common than in Bronze and Iron Age Europe. It is possible that the Roman enthusiasm for fermented, uncooked fish sauce (garum) may have facilitated the spread of this helminth. Roman medical practitioners such as Galen were aware of intestinal worms, explaining their existence and planning treatment using the humoural theory of the period.

Impact of meteorological factors on the incidence of bacillary dysentery in Beijing, China: A time series analysis (1970-2012.

Directory of Open Access Journals (Sweden)

Long Yan

Full Text Available Influence of meteorological variables on the transmission of bacillary dysentery (BD is under investigated topic and effective forecasting models as public health tool are lacking. This paper aimed to quantify the relationship between meteorological variables and BD cases in Beijing and to establish an effective forecasting model.A time series analysis was conducted in the Beijing area based upon monthly data on weather variables (i.e. temperature, rainfall, relative humidity, vapor pressure, and wind speed and on the number of BD cases during the period 1970-2012. Autoregressive integrated moving average models with explanatory variables (ARIMAX were built based on the data from 1970 to 2004. Prediction of monthly BD cases from 2005 to 2012 was made using the established models. The prediction accuracy was evaluated by the mean square error (MSE.Firstly, temperature with 2-month and 7-month lags and rainfall with 12-month lag were found positively correlated with the number of BD cases in Beijing. Secondly, ARIMAX model with covariates of temperature with 7-month lag (β = 0.021, 95% confidence interval(CI: 0.004-0.038 and rainfall with 12-month lag (β = 0.023, 95% CI: 0.009-0.037 displayed the highest prediction accuracy.The ARIMAX model developed in this study showed an accurate goodness of fit and precise prediction accuracy in the short term, which would be beneficial for government departments to take early public health measures to prevent and control possible BD popularity.

Ultrastructural Histopathology of Vervet Monkey Colonic Epithelium After In Vitro Exposure to Cell-free Supernatants of Shigella Cultures

OpenAIRE

Hill, R. R.; Collins, N. E.; Cowley, H. M.

2011-01-01

The full dysentery syndrome of human shigellosis is often preceded by a transient diarrhoea that may be induced by bacterial extracellular products before invasion of the colonic mucosa and development of subsequent pathology. To examine this hypothesis, we studied the effects of cell-free cultures of Shigella sp. on the ultrastructure of monkey colonic epithelium in vitro. Clinical isolates of shigella strains were grown in a niche-simulating medium. Sheets of colon wall collected from verve...

An Investigation into the Etiological Agents of Swine Dysentery in Australian Pig Herds.

Directory of Open Access Journals (Sweden)

Tom La

Full Text Available Swine dysentery (SD is a mucohemorrhagic colitis, classically seen in grower/finisher pigs and caused by infection with the anaerobic intestinal spirochete Brachyspira hyodysenteriae. More recently, however, the newly described species Brachyspira hampsonii and Brachyspira suanatina have been identified as causing SD in North America and/or Europe. Furthermore, there have been occasions where strains of B. hyodysenteriae have been recovered from healthy pigs, including in multiplier herds with high health status. This study investigated whether cases of SD in Australia may be caused by the newly described species; how isolates of B. hyodysenteriae recovered from healthy herds compared to isolates from herds with disease; and how contemporary isolates compare to those recovered in previous decades, including in their plasmid gene content and antimicrobial resistance profiles. In total 1103 fecal and colon samples from pigs in 97 Australian herds were collected and tested. Of the agents of SD only B. hyodysenteriae was found, being present in 34 (35.1% of the herds, including in 14 of 24 (58% herds that had been considered to be free of SD. Multilocus sequence typing applied to 96 isolates from 30 herds and to 53 Australian isolates dating from the 1980s through the early 2000s showed that they were diverse, distinct from those reported in other countries, and that the 2014/16 isolates generally were different from those from earlier decades. These findings provided evidence for ongoing evolution of B. hyodysenteriae strains in Australia. In seven of the 20 herds where multiple isolates were available, two to four different sequence types (STs were identified. Isolates with the same STs also were found in some herds with epidemiological links. Analysis of a block of six plasmid virulence-associated genes showed a lack of consistency between their presence or absence and their origin from herds currently with or without disease; however

Efficacy and Safety of Nitazoxanide, Albendazole, and Nitazoxanide-Albendazole against Trichuris trichiura Infection: A Randomized Controlled Trial

Science.gov (United States)

Speich, Benjamin; Ame, Shaali M.; Ali, Said M.; Alles, Rainer; Hattendorf, Jan; Utzinger, Jürg; Albonico, Marco; Keiser, Jennifer

2012-01-01

Background The currently used anthelmintic drugs, in single oral application, have low efficacy against Trichuris trichiura infection, and hence novel anthelmintic drugs are needed. Nitazoxanide has been suggested as potential drug candidate. Methodology The efficacy and safety of a single oral dose of nitazoxanide (1,000 mg), or albendazole (400 mg), and a nitazoxanide-albendazole combination (1,000 mg–400 mg), with each drug administered separately on two consecutive days, were assessed in a double-blind, randomized, placebo-controlled trial in two schools on Pemba, Tanzania. Cure and egg reduction rates were calculated by per-protocol analysis and by available case analysis. Adverse events were assessed and graded before treatment and four times after treatment. Principal Findings Complete data for the per-protocol analysis were available from 533 T. trichiura-positive children. Cure rates against T. trichiura were low regardless of the treatment (nitazoxanide-albendazole, 16.0%; albendazole, 14.5%; and nitazoxanide, 6.6%). Egg reduction rates were 54.9% for the nitazoxanide-albendazole combination, 45.6% for single albendazole, and 13.4% for single nitazoxanide. Similar cure and egg reduction rates were calculated using the available case analysis. Children receiving nitazoxanide had significantly more adverse events compared to placebo recipients. Most of the adverse events were mild and had resolved within 24 hours posttreatment. Conclusions/Significance Nitazoxanide shows no effect on T. trichiura infection. The low efficacy of albendazole against T. trichiura in the current setting characterized by high anthelmintic drug pressure is confirmed. There is a pressing need to develop new anthelmintics against trichuriasis. Trial Registration Controlled-Trials.com ISRCTN08336605 PMID:22679525

Human intestinal parasites from a Mamluk Period cesspool in the Christian quarter of Jerusalem: Potential indicators of long distance travel in the 15th century AD.

Science.gov (United States)

Yeh, Hui-Yuan; Prag, Kay; Clamer, Christa; Humbert, Jean-Baptiste; Mitchell, Piers D

2015-06-01

The aim of this research is to determine which parasites were present in a mediaeval latrine from the old city of Jerusalem. This latrine contains fragments of pottery from the Middle East and also from Italy, suggesting links of some kind with Europe. Excavation identified two separate entry chutes emptying in a shared cesspool. Radiocarbon dating and pottery analysis is compatible with a date of use in the late fifteenth century and early sixteenth century. Twelve coprolites (preserved stool) and mixed cesspool sediment were analysed with light microscopy and enzyme-linked immunosorbent assay (ELISA). Six species of intestinal parasites were identified. These were the helminths Ascaris lumbricoides (roundworm), Trichuris trichiura (whipworm), Taenia sp. (beef/pork/asiatic tapeworm) Diphyllobothrium sp. (fish tapeworm), and two protozoa that can cause dysentery (Entamoeba histolytica and Giardia duodenalis). While roundworm and whipworm were found in every sample, the other parasite species were present in only one or two samples each, suggesting that only a minority of those using the latrine were infected with those species. The role of Jerusalem as a site for long distance trade, migration or pilgrimage is considered when interpreting the Italian pottery and the parasites present, especially E. histolytica and Diphyllobothrium sp. Copyright © 2015 Elsevier Inc. All rights reserved.

Soil-Transmitted Helminths in Children in a Remote Aboriginal Community in the Northern Territory: Hookworm is Rare but Strongyloides stercoralis and Trichuris trichiura Persist

Directory of Open Access Journals (Sweden)

Deborah C. Holt

2017-10-01

Full Text Available (1 Background: soil-transmitted helminths are a problem worldwide, largely affecting disadvantaged populations. The little data available indicates high rates of infection in some remote Aboriginal communities in Australia. Studies of helminths were carried out in the same remote community in the Northern Territory in 1994–1996 and 2010–2011; (2 Methods: fecal samples were collected from children aged <10 years and examined for helminths by direct smear microscopy. In the 2010–2011 study, some fecal samples were also analyzed by agar plate culture and PCR for Strongyloides stercoralis DNA. Serological analysis of fingerprick dried blood spots using a S. stercoralis NIE antigen was also conducted; (3 Results and Conclusions: a reduction in fecal samples positive for S. stercoralis, hookworm and Trichuris trichiura was seen between the studies in 1994–1996 and 2010–2011, likely reflecting public health measures undertaken in the region to reduce intestinal helminths. Comparison of methods to detect S. stercoralis showed that PCR of fecal samples and serological testing of dried blood spots was at least as sensitive as direct smear microscopy and agar plate culture. These methods have advantages for use in remote field studies.

Understanding Bartter syndrome and Gitelman syndrome.

Science.gov (United States)

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.

[Maxillofacial and dental abnormalities in some multiple abnormality syndromes. "Cri du chat" syndrome, Wilms' tumor-aniridia syndrome; Sotos syndrome; Goldenhar syndrome].

Science.gov (United States)

Berio, A; Trucchi, R; Meliota, M

1992-05-01

The paper describes the maxillo-facial and dental anomalies observed in some chromosome and non-chromosome poly-malformative syndromes ("Cri du chat" syndrome; Wilms' tumour; Sotos' syndrome; Goldenhar's syndrome). The Authors emphasise the possibility of diagnosing these multiple deformity syndromes from maxillo-facial alterations in early infancy; anomalous tooth position and structure cal also be successfully treated immediately after the first appearance of teeth. This is a particularly promising field of pediatrics and preventive pediatric medicine.

Marfan syndrome masked by Down syndrome?

NARCIS (Netherlands)

Vis, J.C.; Engelen, K. van; Timmermans, J.; Hamel, B.C.J.; Mulder, B.J.

2009-01-01

Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare. We present a case of a 28-year-old female with Down syndrome and a mutation in the fibrillin-1 gene. The patient showed strikingly few manifestations of Marfan syndrome.

The developmental trajectory of disruptive behavior in Down syndrome, fragile X syndrome, Prader-Willi syndrome and Williams syndrome.

Science.gov (United States)

Rice, Lauren J; Gray, Kylie M; Howlin, Patricia; Taffe, John; Tonge, Bruce J; Einfeld, Stewart L

2015-06-01

The aim of this study was to investigate the developmental trajectories of verbal aggression, physical aggression, and temper tantrums in four genetic syndrome groups. Participants were part of the Australian Child to Adult Development Study (ACAD), which collected information from a cohort of individuals with an intellectual disability at five time points over 18 years. Data were examined from a total of 248 people with one of the four following syndromes: Down syndrome, Fragile X syndrome, Prader-Willi syndrome, or Williams syndrome. Changes in behaviors were measured using validated items from the Developmental Behavior Checklist (DBC). The results indicate that, while verbal aggression shows no evidence of diminishing with age, physical aggression, and temper tantrums decline with age before 19 years for people with Down syndrome, Fragile X syndrome, and William syndrome; and after 19 years for people with Prader-Willi syndrome. These findings offer a somewhat more optimistic outlook for people with an intellectual disability than has previously been suggested. Research is needed to investigate the mechanisms predisposing people with PWS to persistence of temper tantrums and physical aggression into adulthood. © 2015 Wiley Periodicals, Inc.

Hamartomatous polyposis syndromes

DEFF Research Database (Denmark)

Jelsig, Anne Marie; Qvist, Niels; Brusgaard, Klaus

2014-01-01

Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes such as ......Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes...

Seckel syndrome: an overdiagnosed syndrome.

OpenAIRE

Thompson, E; Pembrey, M

1985-01-01

Five children in whom a diagnosis of Seckel syndrome had previously been made were re-examined in the genetic unit. One child had classical Seckel syndrome, a sib pair had the features of the syndrome with less severe short stature, and in two children the diagnosis was not confirmed. Seckel syndrome is only one of a group of low birth weight microcephalic dwarfism and careful attention should be paid to fulfillment of the major criteria defined by Seckel before the diagnosis is made. There r...

Serum antibody responses in pigs trickle-infected with Ascaris and Trichuris: Heritabilities and associations with parasitological findings.

Science.gov (United States)

Kringel, Helene; Thamsborg, Stig Milan; Petersen, Heidi Huus; Göring, Harald Heinz Herbert; Skallerup, Per; Nejsum, Peter

2015-07-30

A humoral immune response following helminth infection in pigs is well documented. However, it has been difficult to confirm the existence of antibody mediated resistance against the large roundworm, Ascaris suum, and whipworm, Trichuris suis, in experimental settings by correlating worm burdens or egg excretion with specific antibody levels. We set out to investigate the association between worm load and T. suis and A. suum specific serum antibody levels (IgG1, IgG2 and IgA) against excretory-secretory products of adults and third stage larvae, respectively, measured at 0, 7 and 14 weeks p.i. in a trickle-infected F1-resource-population of crossbred pigs (n=195). Furthermore, we wanted to determine the heritability of these antibody isotypes during the course of infection. Most pigs remained infected with A. suum throughout the experiment while they expelled T. suis between 7 and 14 weeks post infection (p.i.). Parasite specific IgG1 and IgA were significantly (P<0.001) elevated after 7 and 14 weeks of infection, whereas parasite specific IgG2 levels only changed slightly at 14 weeks p.i.. However, the observed association between specific antibody isotype levels and faecal egg counts and macroscopic worm load was weak. The relative heritabilities of the different parasite specific isotypes were assessed and resulted in significant heritability estimates for parasite specific IgG1 and IgA. The highest heritabilities were found for A. suum specific IgG1 (h(2)=0.41 and 0.46 at 7 and 14 weeks p.i., respectively). Thus, the present study demonstrates that host genetic factors influence the IgG1 and IgA antibody isotype responses specific to two of the most common gastrointestinal nematodes of swine whereas specific antibody levels were poorly associated with egg excretion and the presence of macroscopic worms. Copyright © 2015. Published by Elsevier B.V.

Epidemiological characterization of resistance and PCR typing of Shigella flexneri and Shigella sonnei strains isolated from bacillary dysentery cases in Southeast Brazil

Directory of Open Access Journals (Sweden)

M.P.A. Penatti

2007-02-01

Full Text Available Shigella spp are Gram-negative, anaerobic facultative, non-motile, and non-sporulated bacilli of the Enterobacteriaceae family responsible for "Shigellosis" or bacillary dysentery, an important cause of worldwide morbidity and mortality. However, despite this, there are very few epidemiological studies about this bacterium in Brazil. We studied the antibiotic resistance profiles and the clonal structure of 60 Shigella strains (30 S. flexneri and 30 S. sonnei isolated from shigellosis cases in different cities within the metropolitan area of Campinas, State of São Paulo, Brazil. We used the following well-characterized molecular techniques: enterobacterial repetitive intergenic consensus, repetitive extragenic palindromic, and double-repetitive element-polymerase chain reaction to characterize the bacteria. Also, the antibiotic resistance of the strains was determined by the diffusion disk method. Many strains of S. flexneri and S. sonnei were found to be multi-resistant. S. flexneri strains were resistant to ampicillin in 83.3% of cases, chloramphenicol in 70.0%, streptomycin in 86.7%, sulfamethoxazole in 80.0%, and tetracycline in 80.0%, while a smaller number of strains were resistant to cephalothin (3.3% and sulfazotrim (10.0%. S. sonnei strains were mainly resistant to sulfamethoxazole (100.0% and tetracycline (96.7% and, to a lesser extent, to ampicillin (6.7% and streptomycin (26.7%. Polymerase chain reaction-based typing supported the existence of specific clones responsible for the shigellosis cases in the different cities and there was evidence of transmission between cities. This clonal structure would probably be the result of selection for virulence and resistance phenotypes. These data indicate that the human sanitary conditions of the cities investigated should be improved.

Superior Mesenteric Artery Syndrome or Wilkie Syndrome

International Nuclear Information System (INIS)

Castano Llano, Rodrigo; Chams Anturi, Abraham; Arango Vargas, Paula

2009-01-01

We described three cases of superior mesenteric artery (SMA) syndrome, also known as Wilkie's syndrome, chronic duodenal ileus, or cast syndrome. This syndrome occurs when the third portion of the duodenum is compressed between the SMA and the aorta. The major risk factors for development of SMA syndrome are rapid weight loss and surgical correction of spinal deformities. The clinical presentation of SMA syndrome is variable and nonspecific, including nausea, vomiting, abdominal pain, and weight loss. The diagnosis is based on endoscopic, radiographic and tomographic findings of duodenal compression by the SMA. The treatment of SMA syndrome is aimed at the precipitating factor, which usually is related to weight loss. Therefore, conservative therapy with nutritional supplementation is the initial approach, and surgery is reserved for those who do not respond to nutritional therapy.

Disease: H00299 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available H00299 Shigellosis; Bacillary dysentery Shigellosis (bacillary dysentery) is a food...t and bloody diarrhea, and tenesmus. Transmission usually occurs via contaminated food and water or through

Beals Syndrome

Science.gov (United States)

... the syndrome. How does Beals syndrome compare with Marfan syndrome? People with Beals syndrome have many of the ... bone) and aortic enlargement problems as people with Marfan syndrome, and treatments for these problems are the same. ...

Regional variation in Ascaris lumbricoides and Trichuris trichiura infections by age cohort and sex: effects of market integration among the indigenous Shuar of Amazonian Ecuador.

Science.gov (United States)

Gildner, Theresa E; Cepon-Robins, Tara J; Liebert, Melissa A; Urlacher, Samuel S; Madimenos, Felicia C; Snodgrass, J Josh; Sugiyama, Lawrence S

2016-11-24

Soil-transmitted helminth (STH) infection peaks during childhood and varies by sex. The impact of market integration (MI) (increasing production for and consumption from a market-based economy) on these infection patterns, however, is unclear. In this study, STH infection is examined by sex and age among indigenous Shuar inhabiting two regions of Amazonian Ecuador: (1) the modestly market-integrated Upano Valley (UV) and (2) the more traditional Cross-Cutucú (CC) region. Kato-Katz fecal smears were examined for parasite presence and infection intensity. Factorial ANOVAs and post hoc simple effects analyses were performed by sex to compare infection intensity between regions and age categories (infant/child, juvenile/adolescent, adult). Significant age and regional differences in Ascaris lumbricoides and Trichuris trichiura infection were detected. Overall, infants/children and juveniles/adolescents displayed higher parasite loads than adults. CC females exhibited higher A. lumbricoides loads than UV females, while the opposite pattern was observed for T. trichiura infection in males. Regional infection patterns varied by sex and parasite species, perhaps due to MI-linked environmental and lifestyle changes. These results have public health implications for the identification of individuals at risk for infection and contribute to ongoing efforts to track changes and alleviate STH infection in indigenous populations undergoing MI.

Efficacy and Safety of Ivermectin Against Trichuris trichiura in Preschool- and School-Aged Children: A Randomized Controlled Dose-Finding Trial.

Science.gov (United States)

Wimmersberger, David; Coulibaly, Jean T; Schulz, Jessica; Puchkow, Maxim; Huwyler, Jörg; N'Gbesso, Yves; Hattendorf, Jan; Keiser, Jennifer

2018-03-30

Although trichuriasis affects millions of children worldwide, recommended drugs lack efficacy and new treatment options are urgently needed. Ivermectin has promising potential to complement the anthelminthic armamentarium. A randomized placebo-controlled trial was conducted in rural Côte d'Ivoire to provide evidence on the efficacy and safety of ascending oral ivermectin dosages in preschool-aged children and in schoolchildren infected with Trichuris trichiura. Primary outcome was cure rate on T. trichiura infection and secondary outcomes were safety, egg-reduction rates against T. trichiura infection, and cure and egg-reduction rates against other soil-transmitted helminth species. 126 preschool-aged and 166 school-aged children were included in an available case analysis. In preschool-aged children efficacy against T. trichiura did not differ between 200 µg/kg ivermectin and placebo as expressed in cure rates (20.9% [95% CI 11.9-52.8%] vs. 19.5% [95% CI 10.4-49.9%]) and geometric mean egg-reduction rates (78.6% [95% CI 60.1-89.5%] vs. 68.2% [95% CI 40.5 to 84.8%]). In school-aged children even a dose of 600 µg/kg ivermectin revealed a low cure rate (12.2% [95% CI 4.8-32.3%] and moderate egg-reduction rate (66.3% [95% CI 43.8-80.2%]. Only mild adverse events and no organ toxicity based on serum biomarkers was observed. Ivermectin can be administered safely to preschool-aged children suffering from trichuriasis. Given the low efficacy of ivermectin monotherapy against T. trichiura infection further research should investigate the optimal drug combinations and dosages with ivermectin against soil-transmitted helminthiasis. The trial is registered at www.isrctn.com, number ISRCTN15871729.

LATAR BELAKANG KARAKTERISTIK RESPONDED DALAM PENCEGAHAN PENYAKIT SHIGELLA/DISENTRI YANG DILAKUKAN OLEH MASYARAKAT DI JAKARTA UTARA

Directory of Open Access Journals (Sweden)

Kartika Handayani

2012-11-01

Full Text Available The Research was conducted in North Jakarta and Selected 2 district in Jakarta North that is Tanjung Priok and Koja district as a research region. About 300 respondents which include 140 men and 151 woman from Tanjung Priok district. In Koja district was taken 200 respondents that consist of 101 men and 99 woman. Data processing done with double entry, by using program ISSA (Integrated Survey Analysis and Analysis Data used SPSS (Statistic Package for Social Science. The Research shown 88,7%-89,2% prevent spicy food can overcome dysentery disease of, 55.2% improving clean water can be temporary prevention of dysentery disease, and 56,4%-56,6% personal hygiene able to handle dysentery disease forever. By repairing bathroom (usually used for bath, wash, dump faeces 57.1%-58.4% and fixing garbage 56,2%-57,2% can prevent dysentery disease temporary, while 97,2%-97,4% of drinking traditional medicine (jamu also happen the same thing with dysentery disease. Based on respondents, 96,5%-96,6% using its own medicine/ingredient will prevent dysentery disease. According respondents habit on wash hand about 84.4% respondents wash their hand firstly in the morning and 74.2% washing band before sleep but 64.4% respondents who never wash their band before get dressed. From this research inferential respondents belief to prevent eat spicy food, improving readily clean water, bathroom, garbage place, efficacious of traditional drink, ingredients, washing band habit can be major factors that can prevent community from dysentery disease. The research is part of social Behavior Culture in Overcome Shigella Disease in Jakarta. Keywords: Respondent, Preventing, Shigella Disease

Serotonin syndrome

Science.gov (United States)

Hyperserotonemia; Serotonergic syndrome; Serotonin toxicity; SSRI - serotonin syndrome; MAO - serotonin syndrome ... brain area. For example, you can develop this syndrome if you take migraine medicines called triptans together ...

[Association Budd Chiari syndrome, antiphospholipid syndrome and Grave's disease].

Science.gov (United States)

Mouelhi, Leila; Chaieb, Mouna; Debbeche, Radhouane; Salem, Mohamed; Sfar, Imene; Trabelsi, Sinda; Gorgi, Yosr; Najjar, Taoufik

2009-02-01

Antiphospholipid syndrome is revealed by Budd Chiari syndrome in 5% of the cases. Antiphospholipid syndrome is characterized by venous or arterial thrombosis, foetal loss and positivity of antiphospholipid antibodies, namely lupus anticoagulant, anticardiolipin antibodies and anti-beta2-glycoprotein I. Anticardiolipin antibodies was reported in auto-immune thyroid disorders, particularly in Grave's disease. Antiphospholipid syndrome associated to Grave's disease was reported in only three cases. To describe a case report of association of Grave's disease and antiphospholipid syndrome. We report the first case of Grave's disease associated with antiphospholipid syndrome, revealed by Budd Chiari syndrome. Our observation is particular by the fact that it is about a patient presenting a Grave's disease associated with antiphospholipid syndrome revealed by Budd Chiari syndrome. This triple association has never been reported in literature. Although association between antiphospholipid syndrome and Grave's disease was previously described, further studies evaluating the coexistence of these two affections in the same patient would be useful.

Protection of rats by extracts of some common Nigerian trees against ...

African Journals Online (AJOL)

GRACE

2006-05-02

May 2, 2006 ... Leaves. Tranquilizer, diaphoretic, vertigo, otitis, headaches, migraine, childhood fever, dysentery, haemorrhoid. Vitellaria paradoxa. Root. Gastritis, liver cancer, female sterility, ascites. Bark. Dysentery, haemorrhoids, schistosomiasis, coughs,. Jaundices, nausea, diarrhoea, constipation, headaches, fever.

Duane Syndrome

Science.gov (United States)

... Frequently Asked Questions Español Condiciones Chinese Conditions Duane Syndrome En Español Read in Chinese What is Duane Syndrome? Duane syndrome, also called Duane retraction syndrome (DRS), ...

Wells syndrome and its relationship to Churg-Strauss syndrome.

Science.gov (United States)

Ratzinger, Gudrun; Zankl, Julia; Zelger, Bernhard

2013-08-01

  Wells syndrome has been described as an inflammatory disorder based on typical clinical appearance combined with the histopathological presence of eosinophilic infiltrates and flame figures in the absence of vasculitis. Churg-Strauss syndrome, on the other hand, is primarily a diffuse, necrotizing vasculitis but is also typically displaying eosinophils and flame figures. Despite several parallels, the present understanding of these two diseases excludes any pathogenetic relationship.   We describe the clinical course and histopathological appearance of three patients who had initially been diagnosed with Wells syndrome that developed into Churg-Strauss syndrome during the course of their disease.   The clinical presentation of all three patients led to the diagnosis of Wells syndrome by independent specialists. Histopathology showed an eosinophilic infiltrate and flame figures next to features of leukocytoclastic vasculitis. Detailed examination revealed asthma bronchiale and additional symptoms indicating Churg-Strauss syndrome. The initial diagnosis of Wells syndrome had to be revised to Churg-Strauss syndrome.   We conclude that Wells syndrome could be the starting point of a pathogenetic process that might reach its maximum in Churg-Strauss syndrome. As a clinical consequence, patients with Wells syndrome should be evaluated and followed for Churg-Strauss syndrome. © 2013 The International Society of Dermatology.

Goldenhar Syndrome in Association with Duane Syndrome

Directory of Open Access Journals (Sweden)

U D Shrestha

2012-03-01

Full Text Available Goldenhar syndrome (GHS is also known as Oculo-Auriculo-Vertebral (OAV syndrome or Branchial arch syndrome. Duane retraction syndrome (DRS is a congenital disorder of ocular motility characterized by limited abduction, adduction or both. It is unilateral in 80% of cases. The important and interesting part of this eight months old child is presence of GHS with DRS. She has bilateral invol-vement, which is seen in only 5-8% of GHS, as compared to high incidence of unilateral involve-ment. This child also had refractive error of + 6.00/ - 1.5 * 180. At four year of age her vision with glass was 6/9. Children with GHS and DRS should have early eye examination done to treat the problem of refractive error. Keywords: Duane retraction syndrome; goldenhar syndrome, refractive error.

Comparison of Brachyspira hyodysenteriae Isolates Recovered from Pigs in Apparently Healthy Multiplier Herds with Isolates from Herds with Swine Dysentery.

Directory of Open Access Journals (Sweden)

Tom La

Full Text Available Swine dysentery (SD is a mucohaemorrhagic colitis of grower/finisher pigs classically resulting from infection by the anaerobic intestinal spirochaete Brachyspira hyodysenteriae. This study aimed to determine whether B. hyodysenteriae isolates from pigs in three healthy German multiplier herds supplying gilts to other farms differed from isolates from nine German production herds with SD. Isolates were subjected to whole genomic sequencing, and in silico multilocus sequence typing showed that those from the three multiplier herds were of previously undescribed sequence types (ST132, ST133 and ST134, with all isolates from the same herd having the same ST. All isolates were examined for the presence of 332 genes encoding predicted virulence or virulence lifestyle associated factors, and these were well conserved. Isolates from one multiplier herd were atypical in being weakly haemolytic: they had 10 amino acid substitutions in the haemolysin III protein and five in the haemolysin activation protein compared to reference strain WA1, and had a disruption in the promoter site of the hlyA gene. These changes likely contribute to the weakly haemolytic phenotype and putative lack of virulence. These same isolates also had nine base pair insertions in the iron metabolism genes bitB and bitC and lacked five of six plasmid genes that previously have been associated with colonisation. Other overall differences between isolates from the different herds were in genes from three of five outer membrane proteins, which were not found in all the isolates, and in members of a block of six plasmid genes. Isolates from three herds with SD had all six plasmid genes, while isolates lacking some of these genes were found in the three healthy herds-but also in isolates from six herds with SD. Other differences in genes of unknown function or in gene expression may contribute to variation in virulence; alternatively, superior husbandry and better general health may have

Fanconi syndrome

Science.gov (United States)

De Toni-Fanconi syndrome ... Fanconi syndrome can be caused by faulty genes, or it may result later in life due to kidney damage. Sometimes the cause of Fanconi syndrome is unknown. Common causes of Fanconi syndrome in ...

OCULO-CEREBRO-RENAL SYNDROME (LOWE'S SYNDROME)

Institute of Scientific and Technical Information of China (English)

无

1991-01-01

Oculo-cerebro-renal syndrome (Lowe's syndrome) is characterized by mental and motor retardation, cataract, glaucoma and renal abnormalities. It is an X-linked recessive metabolic disease. Two brothers suffering from Lowe's syndrome are reported. Their mother with lenticular opacities and peculiar facial appearance is in concordance with the obligate carrier. The ocular changes and heridity are discussed.

Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma.

Directory of Open Access Journals (Sweden)

Tullu M

2000-04-01

Full Text Available Neurofibromatosis (NF, Noonan syndrome (NS, and LEOPARD syndrome are all autosomal dominant conditions, each being a distinct clinical entity by itself. Rarely, one encounters cases with features of NF and NS and is termed as the ′Neurofibromatosis-Noonan syndrome′ (NF-NS. The authors report a clinical dilemma with major clinical features of the NF-NS syndrome and LEOPARD syndrome co-existing in the same patient. Also, features of Noonan syndrome and LEOPARD syndrome are compared with the case reported.

LEOPARD syndrome is not linked to the Marfan syndrome and the Watson syndrome loci

Energy Technology Data Exchange (ETDEWEB)

Rass-Rothchild, A.: Abeliovitch, D.; Kornstein, A. [Tel Aviv Univ. (Israel)]|[Hebrew Univ., Jerusalem (Israel)

1994-09-01

The acronym LEOPARD stands for a syndromic association of Lentigines, Eletrocardiographic changes, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth and sensorineural Deafness. Inheritance is autosomal dominant with high penetrance and variable expressivity. In 1990 Torok et al. reported on the association of LEOPARD and Marfan syndrome. In addition a clinical similarity (cardiac and cutaneous involvement) exists with the Watson syndrome (neurofibromatosis and pulmonic stenosis) which is linked to the marker D17S33 on chromosome 17. We studied possible linkage of LEOPARD syndrome to the Marfan syndrome locus on chromosome 15 (D15S1, MF13, and (TAAAA)n repeats) and to the NF-1 locus on chromosome 17 in a family with 9 cases of LEOPARD syndrome. Close linkage between LEOPARD syndrome and both the Marfan locus on chromosome 15 and the NF-1 locus on chromosome 17 was excluded (lod score <-2.0 through {theta} = 0.1).

The transcriptome of Trichuris suis--first molecular insights into a parasite with curative properties for key immune diseases of humans.

Directory of Open Access Journals (Sweden)

Cinzia Cantacessi

Full Text Available Iatrogenic infection of humans with Trichuris suis (a parasitic nematode of swine is being evaluated or promoted as a biological, curative treatment of immune diseases, such as inflammatory bowel disease (IBD and ulcerative colitis, in humans. Although it is understood that short-term T. suis infection in people with such diseases usually induces a modified Th2-immune response, nothing is known about the molecules in the parasite that induce this response.As a first step toward filling the gaps in our knowledge of the molecular biology of T. suis, we characterised the transcriptome of the adult stage of this nematode employing next-generation sequencing and bioinformatic techniques. A total of ∼65,000,000 reads were generated and assembled into ∼20,000 contiguous sequences ( = contigs; ∼17,000 peptides were predicted and classified based on homology searches, protein motifs and gene ontology and biological pathway mapping.These analyses provided interesting insights into a number of molecular groups, particularly predicted excreted/secreted molecules (n = 1,288, likely to be involved in the parasite-host interactions, and also various molecules (n = 120 linked to chemokine, T-cell receptor and TGF-β signalling as well as leukocyte transendothelial migration and natural killer cell-mediated cytotoxicity, which are likely to be immuno-regulatory or -modulatory in the infected host. This information provides a conceptual framework within which to test the immunobiological basis for the curative effect of T. suis infection in humans against some immune diseases. Importantly, the T. suis transcriptome characterised herein provides a curated resource for detailed studies of the immuno-molecular biology of this parasite, and will underpin future genomic and proteomic explorations.

Metabolic syndrome and polycystic ovary syndrome: an intriguing overlapping.

Science.gov (United States)

Caserta, Donatella; Adducchio, Gloria; Picchia, Simona; Ralli, Eleonora; Matteucci, Eleonora; Moscarini, Massimo

2014-06-01

Metabolic syndrome is an increasing pathology in adults and in children, due to a parallel rise of obesity. Sedentary lifestyle, food habits, cultural influences and also a genetic predisposition can cause dyslipidemia, hypertension, abdominal obesity and insulin resistance which are the two main features of metabolic syndrome. Polycystic ovary syndrome (PCOS) is a condition directly associated with obesity, insulin resistance (HOMA index) and metabolic syndrome, and it is very interesting for its relationship and overlap with the metabolic syndrome. The relationship between the two syndromes is mutual: PCOS women have a higher prevalence of metabolic syndrome and also women with metabolic syndrome commonly present the reproductive/endocrine trait of PCOS. Prevention and treatment of metabolic syndrome and PCOS are similar for various aspects. It is necessary to treat excess adiposity and insulin resistance, with the overall goals of preventing cardiovascular disease and type 2 diabetes and improving reproductive failure in young women with PCOS. First of all, lifestyle changes, then pharmacological therapy, bariatric surgery and laparoscopic ovarian surgery represent the pillars for PCOS treatment.

Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview

NARCIS (Netherlands)

de Maria, Beatrice; Mazzanti, Laura; Roche, Nathalie; Hennekam, Raoul C.

2016-01-01

Barber-Say syndrome (BSS) and Ablepharon-Macrostomia syndrome (AMS) are congenital malformation syndromes caused by heterozygous mutations in TWIST2. Here we provide a critical review of all patients published with these syndromes. We excluded several earlier reports due to misdiagnosis or

Autosomal dominant syndrome resembling Coffin-Siris syndrome.

Science.gov (United States)

Flynn, Maureen A; Milunsky, Jeff M

2006-06-15

Coffin-Siris syndrome is a multiple congenital anomaly/mental retardation syndrome with phenotypic variability [OMIM 135900]. The diagnosis is based solely on clinical findings, as there is currently no molecular, biochemical, or cytogenetic analysis available to confirm a diagnosis. Although typically described as an autosomal recessive disorder, autosomal dominant inheritance has also been infrequently reported. We describe a mother and her two daughters who all have features that resemble Coffin-Siris syndrome. However, this is not a completely convincing diagnosis given that hypertelorism is not a feature of Coffin-Siris syndrome and the family is relatively mildly affected. Yet, this family provides further evidence of an autosomal dominant mode of inheritance for a likely variant of Coffin-Siris syndrome (at least in some families). In addition, Sibling 1 had premature thelarche. She is the second reported individual within the spectrum of Coffin-Siris syndrome to have premature thelarche, indicating that it may be a rare clinical feature. Copyright 2006 Wiley-Liss, Inc.

West syndrome in a patient with Schinzel-Giedion syndrome.

Science.gov (United States)

Miyake, Fuyu; Kuroda, Yukiko; Naruto, Takuya; Ohashi, Ikuko; Takano, Kyoko; Kurosawa, Kenji

2015-06-01

Schinzel-Giedion syndrome is a rare recognizable malformation syndrome defined by characteristic facial features, profound developmental delay, severe growth failure, and multiple congenital anomalies. The causative gene of Schinzel-Giedion syndrome, SETBP1, has been identified, but limited cases have been confirmed by molecular analysis. We present a 9-month-old girl affected by West syndrome with Schinzel-Giedion syndrome. Congenital severe hydronephrosis, typical facial features, and multiple anomalies suggested a clinical diagnosis of Schinzel-Giedion syndrome. Hypsarrhythmia occurred at 7 months of age and was temporarily controlled by adrenocorticotropic hormone (ACTH) therapy during 5 weeks. SETBP1 mutational analysis showed the presence of a recurrent mutation, p.Ile871Thr. The implications in management of Schinzel-Giedion syndrome are discussed. © The Author(s) 2014.

Identification and management of Shigella infection in children with diarrhoea: a systematic review and meta-analysis.

Science.gov (United States)

Tickell, Kirkby D; Brander, Rebecca L; Atlas, Hannah E; Pernica, Jeffrey M; Walson, Judd L; Pavlinac, Patricia B

2017-12-01

Shigella infections are a leading cause of diarrhoeal death among children in low-income and middle-income countries. WHO guidelines reserve antibiotics for treating children with dysentery. Reliance on dysentery for identification and management of Shigella infection might miss an opportunity to reduce Shigella-associated morbidity and mortality. We aimed to systematically review and evaluate Shigella-associated and dysentery-associated mortality, the diagnostic value of dysentery for the identification of Shigella infection, and the efficacy of antibiotics for children with Shigella or dysentery, or both. We did three systematic reviews (for mortality, diagnostic value, and antibiotic treatment of Shigella and dysentery), and meta-analyses where appropriate, of studies in resource-limited settings. We searched MEDLINE, Embase, and LILACS database for studies published before Jan 1, 2017, in English, French, and Spanish. We included studies of human beings with diarrhoea and accepted all study-specific definitions of dysentery. For the mortality and diagnostic value searches, we excluded studies that did not include an effect estimate or data necessary to calculate this estimate. The search for treatment included only randomised controlled trials that were done after Jan 1, 1980, and assessed antibiotics in children (aged Shigella. We extracted or calculated odds ratios (ORs) and 95% CIs for relative mortality and did random-effects meta-analysis to arrive at pooled ORs. We calculated 95% CIs assuming a binomial distribution and did random-effects meta-regression of log-transformed sensitivity and specificity estimates for diagnostic value. We assessed the heterogeneity of papers included in these meta-analyses using the I 2 statistic and evaluated publication bias using funnel plots. This review is registered with PROSPERO (CRD42017063896). 3649 papers were identified and 60 studies were included for analyses: 13 for mortality, 27 for diagnostic value, and 20 for

Cushing syndrome

Science.gov (United States)

Hypercortisolism; Cortisol excess; Glucocorticoid excess - Cushing syndrome ... The most common cause of Cushing syndrome is taking too much ... Cushing syndrome . Prednisone, dexamethasone, and prednisolone ...

Russell-Silver syndrome

Science.gov (United States)

Silver-Russell syndrome; Silver syndrome; RSS; Russell-Silver syndrome ... One in 10 children with this syndrome has a problem involving chromosome 7. In other people with the syndrome, it may affect chromosome 11. Most of the time, it ...

[Cockett's syndrome, May-Thurner syndrome, or iliac vein compression syndrome].

Science.gov (United States)

Gil Martín, A R; Carreras Aja, M; Arrieta Ardieta, I; Labayen Azparren, I

2014-01-01

Iliac vein compression syndrome (also known as May-Thurner syndrome or Cockett's syndrome) is a rare clinical entity in which the left common iliac vein is compressed when it passes between the right common iliac artery and the spine. The sustained compression and trauma caused by the pulsatile force of the artery on the vein damage the intima and lead to the formation of membranes or bands in the vascular lumen that hinder or obstruct the flow of blood in the vein, favoring thrombus formation. The current treatment strategy of choice is endovascular vein patch angioplasty and stenting with the aim of improving the caliber of the lumen and enabling normal venous drainage. We present two cases of May-Thurner syndrome and review the clinical and CT findings. Copyright © 2011 SERAM. Published by Elsevier Espana. All rights reserved.

LEOPARD syndrome

Science.gov (United States)

Multiple lentigines syndrome; Noonan syndrome with multiple lentigines ... Genetics Home Reference -- ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines National Organization for Rare Disorders -- ...

Dravets syndrom

DEFF Research Database (Denmark)

Hansen, Lars Kjaersgård; Rasmussen, Niels Henrik; Ousager, Lilian Bomme

2010-01-01

Dravet syndrome is an epileptic syndrome of infancy and early childhood. Most cases of Dravet syndrome seem to be due to a genetic defect causing the sodium channel to malfunction. We describe the main features of the syndrome. This epilepsy is medically intractable, but we call attention...... to the fact that some medications are of benefit and some could exacerbate the condition. Early recognition of the syndrome including by genetic testing could possibly improve outcome and reduce the need for other specialized investigations. Udgivelsesdato: 2010-Feb-22...

A Chinese patient with pusher syndrome and unilateral spatial neglect syndrome.

Science.gov (United States)

Chen, Xiao-Wei; Lin, Cheng-He; Zheng, Hua; Lin, Zhen-Lan

2014-07-01

To observe clinical manifestations, behavioral characteristics, and effects of rehabilitation on a patient with pusher syndrome and unilateral spatial neglect caused by right thalamic hemorrhage. Assessment of pusher syndrome was made by the Scale for Contraversive pushing (SCP), and unilateral spatial neglect syndrome was diagnosed using line cancellation, letter and star cancellation, line bisection tests and copy and continuation of graphic sequence test. Behavioral therapy, occupational therapy, reading training and traditional Chinese medicine methods were adopted for treatment of pusher syndrome and unilateral spatial neglect. The patient showed typical pusher syndrome and unilateral spatial neglect symptoms. The pusher syndrome and unilateral spatial neglect symptoms were significantly improved following rehabilitation treatments. Pusher syndrome and unilateral spatial neglect syndrome occurred simultaneously after right thalamic hemorrhage. Early rehabilitation therapy can reduce the symptoms of pusher syndrome and unilateral spatial neglect syndrome and improve motor function.

Aarskog syndrome

Science.gov (United States)

Aarskog disease; Aarskog-Scott syndrome; AAS; Faciodigitogenital syndrome; Gaciogenital dysplasia ... Aarskog syndrome is a genetic disorder that is linked to the X chromosome. It affects mainly males, but females ...

Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome).

Science.gov (United States)

Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

2014-01-01

Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts.

Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome)

OpenAIRE

Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

2014-01-01

Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts.

Cushing's Syndrome

OpenAIRE

宗, 友厚; 伊藤, 勇; 諏訪, 哲也; 武田, 純; MUNE, Tomoatsu

2003-01-01

Sixteen cases of verified Cushing's syndrome, and twelve cases of probable Cushing's syndrome were reviewed and data on them were compared with various reports on Cushing's syndrome in the literature.

Polycystic ovary syndrome and metabolic syndrome.

Science.gov (United States)

Ali, Aus Tariq

2015-08-01

Polycystic ovary syndrome (PCOS) is a heterogeneous disorder, where the main clinical features include menstrual irregularities, sub-fertility, hyperandrogenism, and hirsutism. The prevalence of PCOS depends on ethnicity, environmental and genetic factors, as well as the criteria used to define it. On the other hand, metabolic syndrome is a constellation of metabolic disorders which include mainly abdominal obesity, insulin resistance, impaired glucose metabolism, hypertension and dyslipidaemia. These associated disorders directly increase the risk of Type 2 diabetes mellitus (DMT2), coronary heart disease (CHD), cardiovascular diseases (CVD) and endometrial cancer. Many patients with PCOS have features of metabolic syndrome such as visceral obesity, hyperinsulinaemia and insulin resistance. These place patients with PCOS under high risk of developing cardiovascular disease (CVD), Type 2 diabetes (DMT2) and gynecological cancer, in particular, endometrial cancer. Metabolic syndrome is also increased in infertile women with PCOS. The aim of this review is to provide clear and up to date information about PCOS and its relationship with metabolic syndrome, and the possible interaction between different metabolic disorders.

Tourette syndrome

Science.gov (United States)

Gilles de la Tourette syndrome; Tic disorders - Tourette syndrome ... Tourette syndrome is named for Georges Gilles de la Tourette, who first described this disorder in 1885. The disorder is likely passed down through families. ...

Metabolic syndrome in acute coronary syndrome

International Nuclear Information System (INIS)

Bhalli, M.A.; Aamir, M.; Mustafa, G.

2011-01-01

Objective: To determine the frequency of metabolic syndrome in male patients presenting with acute coronary syndrome Study design: A Descriptive study Place and duration of study: Armed Forces Institute of Cardiology and National Institute of Heart Diseases, Rawalpindi, from October 2007 to September 2008 Patients and Methods: Male patients with acute coronary syndrome (ACS) were included. Patients having angioplasty (PCI), coronary artery bypass surgery in the past and other co-morbid diseases were excluded. All patients were assessed for the presence of five components of metabolic syndrome including hypertension, HDL-Cholesterol and triglycerides, glucose intolerance and abdominal obesity. Systolic, diastolic blood pressures, waist circumference (WC) and body mass index (BMI) were measured. ECG, cardiac enzymes, fasting glucose and lipid profile were also done. Results: A total of 135 male patients of ACS were studied with a mean age of 54.26 +- 11 years. Metabolic syndrome (MS) was present in 55 (40.7%) patients. MS with all five components was documented in 4 (7.27%) while MS with four and three components was seen in 23 (41.81%) and 28 (50.90%) patients respectively. Only 24 (43.63%) patients with MS had diabetes mellitus, remaining 31(56.36%) were non diabetic. Frequencies of diabetes, hypertension and family history of CAD were significantly higher (p<0.05) in patients with metabolic syndrome as compared to patients with normal metabolic status. Conclusion: Metabolic syndrome is fairly common and important risk factor in patients of IHD. Other risk factors like smoking, dyslipidemia, hypertension and diabetes were also frequently found. Public awareness to control the risk factors can reduce the prevalence of CAD in our country. (author)

Metabolic syndrome in acute coronary syndrome

Energy Technology Data Exchange (ETDEWEB)

Bhalli, M A; Aamir, M; Mustafa, G [Combined Military Hospital, Abbottabad (Pakistan)

2011-06-15

Objective: To determine the frequency of metabolic syndrome in male patients presenting with acute coronary syndrome Study design: A Descriptive study Place and duration of study: Armed Forces Institute of Cardiology and National Institute of Heart Diseases, Rawalpindi, from October 2007 to September 2008 Patients and Methods: Male patients with acute coronary syndrome (ACS) were included. Patients having angioplasty (PCI), coronary artery bypass surgery in the past and other co-morbid diseases were excluded. All patients were assessed for the presence of five components of metabolic syndrome including hypertension, HDL-Cholesterol and triglycerides, glucose intolerance and abdominal obesity. Systolic, diastolic blood pressures, waist circumference (WC) and body mass index (BMI) were measured. ECG, cardiac enzymes, fasting glucose and lipid profile were also done. Results: A total of 135 male patients of ACS were studied with a mean age of 54.26 +- 11 years. Metabolic syndrome (MS) was present in 55 (40.7%) patients. MS with all five components was documented in 4 (7.27%) while MS with four and three components was seen in 23 (41.81%) and 28 (50.90%) patients respectively. Only 24 (43.63%) patients with MS had diabetes mellitus, remaining 31(56.36%) were non diabetic. Frequencies of diabetes, hypertension and family history of CAD were significantly higher (p<0.05) in patients with metabolic syndrome as compared to patients with normal metabolic status. Conclusion: Metabolic syndrome is fairly common and important risk factor in patients of IHD. Other risk factors like smoking, dyslipidemia, hypertension and diabetes were also frequently found. Public awareness to control the risk factors can reduce the prevalence of CAD in our country. (author)

Exogenous Cushing syndrome

Science.gov (United States)

Cushing syndrome - corticosteroid induced; Corticosteroid-induced Cushing syndrome; Iatrogenic Cushing syndrome ... Cushing syndrome is a disorder that occurs when your body has a higher than normal level of the hormone ...

Targets to treat metabolic syndrome in polycystic ovary syndrome.

Science.gov (United States)

Mahalingaiah, Shruthi; Diamanti-Kandarakis, Evanthia

2015-01-01

Metabolic syndrome is comprised of a combination of the following states: increased insulin resistance, dyslipidemia, cardiovascular disease, and increased abdominal obesity. Women with polycystic ovary syndrome (PCOS) have an increased risk of developing metabolic syndrome over the course of their lives. Metabolic syndrome increases risk of major cardiovascular events, morbidity, quality of life, and overall health care costs. Though metabolic syndrome in women with PCOS is an area of great concern, there is no effective individual medical therapeutic to adequately treat this issue. This article will review key aspects of metabolic syndrome in PCOS. We will discuss classic and novel therapeutics to address metabolic syndrome in women with PCOS. We will conclude with the importance of developing strategic interventions to increase the compliance to lifestyle and dietary modification, in addition to appreciation of the emerging pharmaceutical therapeutics available. Innovation in lifestyle modification, including diet, exercise, with and without dedicated stress reduction techniques is the future in treatment of metabolic syndrome in PCOS. Application of novel interventions, such as group medical care, may improve future adherence to lifestyle modification recommendations, in addition to or in combination with pharmaceutical therapeutics.

Targets to treat metabolic syndrome in polycystic ovary syndrome

Science.gov (United States)

Mahalingaiah, Shruthi; Diamanti-Kandarakis, Evanthia

2016-01-01

Introduction Metabolic syndrome is comprised of a combination of the following states: increased insulin resistance, dyslipidemia, cardiovascular disease, and increased abdominal obesity. Women with polycystic ovary syndrome (PCOS) have an increased risk of developing metabolic syndrome over the course of their lives. Metabolic syndrome increases risk of major cardiovascular events, morbidity, quality of life, and overall health care costs. Though metabolic syndrome in women with PCOS is an area of great concern, there is no effective individual medical therapeutic to adequately treat this issue. Areas Covered This article will review key aspects of metabolic syndrome in PCOS. We will discuss classic and novel therapeutics to address metabolic syndrome in women with PCOS. We will conclude with the importance of developing strategic interventions to increase the compliance to lifestyle and dietary modification, in addition to appreciation of the emerging pharmaceutical therapeutics available. Expert Opinion Innovation in lifestyle modification, including diet, exercise, with and without dedicated stress reduction techniques is the future in treatment of metabolic syndrome in PCOS. Application of novel interventions, such as group medical care, may improve future adherence to lifestyle modification recommendations, in addition to or in combination with pharmaceutical therapeutics. PMID:26488852

Concurrent Van der Woude syndrome and Turner syndrome: A case report.

Science.gov (United States)

Los, Evan; Baines, Hayley; Guttmann-Bauman, Ines

2017-01-01

Most cases of Van der Woude syndrome are caused by a mutation to interferon regulatory factor 6 on chromosome 1. Turner syndrome is caused by complete or partial absence of the second sex chromosome in girls. We describe a unique case of the two syndromes occurring concurrently though apparently independently in a girl with Van der Woude syndrome diagnosed at birth and Turner syndrome at 14 years 9 months. Short stature was initially misattributed to Van der Woude syndrome and pituitary insufficiency associated with clefts before correctly diagnosing Turner syndrome. We discuss the prevalence of delayed diagnosis of Turner syndrome, the rarity of reports of concurrent autosomal chromosome mutation and sex chromosome deletion, as well as the need to consider the diagnosis of Turner syndrome in all girls with short stature regardless of prior medical history.

Milk-alkali syndrome

Science.gov (United States)

Calcium-alkali syndrome; Cope syndrome; Burnett syndrome; Hypercalcemia; Calcium metabolism disorder ... Milk-alkali syndrome is almost always caused by taking too many calcium supplements, usually in the form of calcium carbonate. Calcium ...

Marfan Syndrome

Science.gov (United States)

Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, ... A problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, and ...

Brief Report: Repetitive Behaviour Profiles in Williams Syndrome: Cross Syndrome Comparisons with Prader-Willi and Down Syndromes

Science.gov (United States)

Royston, R.; Oliver, C.; Moss, J.; Adams, D.; Berg, K.; Burbidge, C.; Howlin, P.; Nelson, L.; Stinton, C.; Waite, J.

2018-01-01

This study describes the profile of repetitive behaviour in individuals with Williams syndrome, utilising cross-syndrome comparisons with people with Prader-Willi and Down syndromes. The Repetitive Behaviour Questionnaire was administered to caregivers of adults with Williams (n = 96), Prader-Willi (n = 103) and Down (n = 78) syndromes. There were…

Loeys-Dietz Syndrome

Science.gov (United States)

... to the signs and symptoms of Loeys-Dietz syndrome. Marfan syndrome is different from Loeys-Dietz syndrome in that the gene mutation which causes Marfan syndrome is in fibrillin-1 (FBN-1), a protein ...

Pre-Menstrual Syndrome in Women with Down Syndrome

Science.gov (United States)

Mason, Linda; Cunningham, Cliff

2009-01-01

Background: Prevalence of pre-menstrual syndrome (PMS) may be higher in women with Down syndrome due to syndrome specific characteristics in biochemistry, psychopathology and lifestyle. Recognition of PMS may be difficult for women with intellectual disabilities and their carers. Method: A daily diary, used to diagnose PMS with typical women, was…

Williams syndrome

Science.gov (United States)

Williams-Beuren syndrome ... Williams syndrome is caused by not having a copy of several genes. It may be passed down in families. ... history of the condition. However, people with Williams syndrome have a 50% chance of passing the disorder ...

Coexistence of Reverse Capgras Syndrome, Subjective Double and Cotard Syndrome

Directory of Open Access Journals (Sweden)

Azadeh Mashayekhi

2016-01-01

Full Text Available Misidentification syndrome is a condition in which the person thinks that familiar persons have been replaced with other one. Coexistence of some types of this syndrome has been reported with other psychiatric syndromes. In this report, we present a 47-year-old married man with coexistence of reverse Capgras and subjective double syndromes with Cotard syndrome. There is no previous report of coexistence of these three forms of delusions in a single case.

Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome).

Science.gov (United States)

Bresler, Scott C; Padwa, Bonnie L; Granter, Scott R

2016-06-01

Nevoid basal cell carcinoma syndrome, or basal cell nevus syndrome (Gorlin syndrome), is a rare autosomal dominantly inherited disorder that is characterized by development of basal cell carcinomas from a young age. Other distinguishing clinical features are seen in a majority of patients, and include keratocystic odontogenic tumors (formerly odontogenic keratocysts) as well as dyskeratotic palmar and plantar pitting. A range of skeletal and other developmental abnormalities are also often seen. The disorder is caused by defects in hedgehog signaling which result in constitutive pathway activity and tumor cell proliferation. As sporadic basal cell carcinomas also commonly harbor hedgehog pathway aberrations, therapeutic agents targeting key signaling constituents have been developed and tested against advanced sporadically occurring tumors or syndromic disease, leading in 2013 to FDA approval of the first hedgehog pathway-targeted small molecule, vismodegib. The elucidation of the molecular pathogenesis of nevoid basal cell carcinoma syndrome has resulted in further understanding of the most common human malignancy.

Aicardi Syndrome

Science.gov (United States)

... from Aicardi-Goutieres syndrome, which is an inherited encephalopathy that affects newborn infants.) × Definition Aicardi syndrome is a rare genetic ... from Aicardi-Goutieres syndrome, which is an inherited encephalopathy that affects newborn infants.) View Full Definition Treatment There is no ...

Fournier gangrene associated with hyper IgE syndrome (Job syndrome).

Science.gov (United States)

Hori, Junichi; Yamaguchi, Satoshi; Watanabe, Masaki; Osanai, Hiroaki; Hori, Masako

2008-04-01

We report a case of a 32-year-old man with hyper IgE syndrome (Job syndrome) who developed Fournier gangrene due to infectious multiple atheromas of the scrotal skin that progressed to the right groin and thigh. The patient required surgical debridement and subsequent skin grafting. This is a rare case of Fournier gangrene associated with hyper IgE syndrome (Job syndrome). When a patient without diabetes mellitus has repeated infections and atopic-like dermatitis, Job syndrome should be considered.

Down Syndrome

Science.gov (United States)

... Down syndrome increases as a woman gets older. Down syndrome cannot be cured. Early treatment programs can help improve skills. They may include ... occupational, and/or educational therapy. With support and treatment, many ... Down syndrome live happy, productive lives. NIH: National Institute of ...

TAFRO Syndrome.

Science.gov (United States)

Igawa, Takuro; Sato, Yasuharu

2018-02-01

TAFRO syndrome is a newly recognized variant of idiopathic multicentric Castleman disease (iMCD) that involves a constellation of syndromes: thrombocytopenia (T), anasarca (A), fever (F), reticulin fibrosis (R), and organomegaly (O). Thrombocytopenia and severe anasarca accompanied by relatively low serum immunoglobulin levels are characteristic clinical findings of TAFRO syndrome that are not present in iMCD-not otherwise specified (iMCD-NOS). Lymph node biopsy is recommended to exclude other diseases and to diagnose TAFRO syndrome, which reveals characteristic histopathological findings similar to hyaline vascular-type CD. TAFRO syndrome follows a more aggressive course, compared with iMCD-NOS, and there is no standard treatment. Copyright © 2017 Elsevier Inc. All rights reserved.

Development and characteristics of children with Usher syndrome and CHARGE syndrome.

Science.gov (United States)

Dammeyer, Jesper

2012-09-01

Individuals with Usher syndrome or CHARGE syndrome are faced with a number of difficulties concerning hearing, vision, balance, and language development. The aim of the study is to describe the developmental characteristics of children with Usher syndrome and CHARGE syndrome, respectively. Data about the developmental characteristics of 26 children with Usher syndrome and 17 children with CHARGE syndrome was obtained. Associations between deafblindness (dual sensory loss), motor development (age of walking), language abilities, and intellectual outcome of these children were explored for each group independently. Both groups of children face a number of difficulties associated with vision, hearing, language, balance and intellectual outcome. Intellectual disability and/or language delay was found among 42% of the children with Usher syndrome and among 82% of the children with CHARGE syndrome. Intellectual disability was associated with language delay and age of walking for both groups. Even though Usher and CHARGE are two different genetic syndromes, both groups are challenged with a number of similar developmental delays. Clinicians need to be aware of several developmental issues in order to offer adequate support to children with Usher or CHARGE syndrome. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

Phytochemical screening and antimicrobial activities of leaf extracts ...

African Journals Online (AJOL)

The plant S. macrophylla is commonly used traditionally for the treatment of diarrhoea, wound, headache, malaria, dysentery and fevers. The overall results confirm the significance of the use of the plant in traditional medicinal treatment of diarrhea, wound, headache, malaria, dysentery and fevers, in line with reported ...

Pregnancy outcome in joint hypermobility syndrome and Ehlers-Danlos syndrome.

Science.gov (United States)

Sundelin, Heléne E K; Stephansson, Olof; Johansson, Kari; Ludvigsson, Jonas F

2017-01-01

An increased risk of preterm birth in women with joint hypermobility syndrome or Ehlers-Danlos syndrome is suspected. In this nationwide cohort study from 1997 through 2011, women with either joint hypermobility syndrome or Ehlers-Danlos syndrome or both disorders were identified through the Swedish Patient Register, and linked to the Medical Birth Register. Thereby, 314 singleton births to women with joint hypermobility syndrome/Ehlers-Danlos syndrome before delivery were identified. These births were compared with 1 247 864 singleton births to women without a diagnosis of joint hypermobility syndrome/Ehlers-Danlos syndrome. We used logistic regression, adjusted for maternal age, smoking, parity, and year of birth, to calculate adjusted odds ratios for adverse pregnancy outcomes. Maternal joint hypermobility syndrome/Ehlers-Danlos syndrome was not associated with any of our outcomes: preterm birth (adjusted odds ratio = 0.6, 95% confidence interval 0.3-1.2), preterm premature rupture of membranes (adjusted odds ratio = 0.8; 95% confidence interval 0.3-2.2), cesarean section (adjusted odds ratio = 0.9, 95% confidence interval 0.7-1.2), stillbirth (adjusted odds ratio = 1.1, 95% confidence interval 0.2-7.9), low Apgar score (adjusted odds ratio = 1.6, 95% confidence interval 0.7-3.6), small for gestational age (adjusted odds ratio = 0.9, 95% confidence interval 0.4-1.8) or large for gestational age (adjusted odds ratio = 1.2, 95% confidence interval 0.6-2.1). Examining only women with Ehlers-Danlos syndrome (n = 62), we found a higher risk of induction of labor (adjusted odds ratio = 2.6; 95% confidence interval 1.4-4.6) and amniotomy (adjusted odds ratio = 3.8; 95% confidence interval 2.0-7.1). No excess risks for adverse pregnancy outcome were seen in joint hypermobility syndrome. Women with joint hypermobility syndrome/Ehlers-Danlos syndrome do not seem to be at increased risk of adverse pregnancy outcome. © 2016 Nordic Federation of

Wolf-Hirschhorn (4p-) syndrome with West syndrome.

Science.gov (United States)

Motoi, Hirotaka; Okanishi, Tohru; Kanai, Sotaro; Yokota, Takuya; Yamazoe, Tomohiro; Nishimura, Mitsuyo; Fujimoto, Ayataka; Yamamoto, Takamichi; Enoki, Hideo

2016-01-01

Wolf-Hirschhorn syndrome (WHS) is a chromosome disorder (4p-syndrome) which is characterized by craniofacial features and epileptic seizures. Here, we report a case of WHS with West syndrome, in whom the seizures were refractory to several antiepileptic drugs but were responsive to the addition of lamotrigine. The patient had epileptic spasms at age seven months. The interictal electroencephalogram was hypsarrhythmic. After adding lamotrigine, seizures decreased remarkably, and spasms disappeared. We have identified and described the very rare case of a girl with WHS who also developed West syndrome. In this case, adding lamotrigine to her medications effectively treated the spasms.

Rowell syndrome

Directory of Open Access Journals (Sweden)

Ramesh Y Bhat

2014-01-01

Full Text Available Rowell syndrome is a rare disease consisting of erythema multiforme-like lesions associated with lupus erythematosus. The syndrome occurs mostly in middle-aged women. The authors describe the syndrome in a 15-year-old boy who responded well to systemic steroids and hydroxychloroquine.

[Poland's syndrome].

Science.gov (United States)

Slezak, R; Sasiadek, M

2000-08-01

Poland's syndrome consists of the variable clinical features, but always includes unilateral aplasia of the chest wall muscles and ipsilateral anomalies of upper extremity. The incidence of Poland's syndrome, reported by different authors ranges from 1:10,000 to 1:100,000 and is observed more frequently in males than in females with the right side of the body affected more often than the left. The etiology of this syndrome is still discussed. However most of described cases were sporadic, rare familial incidence of Poland's syndrome were also presented. Therefore different etiologic factors of the Poland's syndrome are taken into account: genetic, vascular compromise during early stages of embriogenesis but also teratogenic effect of environmental xenobiotics (e.g. cigarette smoking by pregnant women). The authors present also the case of 20-years old man with inherited bilateral syndactyly with the right side aplasia of major pectoralis muscle and face asymmetry. The familial history was negative in respect to the features, associated with Poland's syndrome.

[Gardner syndrome--parent alienation syndrome (PAS). Diagnosis or family reality?].

Science.gov (United States)

Namysłowska, Irena; Heitzman, Janusz; Siewierska, Anna

2009-01-01

The authors present characteristics of Parental Alienation Syndrome (PAS) proposed by Gardner as well as data, which may help to differentiate that syndrome with real psychological, physical and sexual abuse. The consequences of Gardner Syndrome for legal decisions in the court cases of child custody and the critique of this syndrome in forensic and psychiatric literature are also discussed, and several questions posed. Authors propose to treat Gardner Syndrome not as as a child disorder but as a specific, dynamic family situation, which occurs sometimes, during divorce and fight about child custody.

Burning Mouth Syndrome and "Burning Mouth Syndrome".

Science.gov (United States)

Rifkind, Jacob Bernard

2016-03-01

Burning mouth syndrome is distressing to both the patient and practitioner unable to determine the cause of the patient's symptoms. Burning mouth syndrome is a diagnosis of exclusion, which is used only after nutritional deficiencies, mucosal disease, fungal infections, hormonal disturbances and contact stomatitis have been ruled out. This article will explore the many causes and treatment of patients who present with a chief complaint of "my mouth burns," including symptomatic treatment for those with burning mouth syndrome.

Pilot Study to Assess the Efficacy of Ivermectin and Fenbendazole for Treating Captive-Born Olive Baboons (Papio anubis) Coinfected with Strongyloides fülleborni and Trichuris trichiura.

Science.gov (United States)

Reichard, Mason V; Thomas, Jennifer E; Chavez-Suarez, Maria; Cullin, Cassandra O; White, Gary L; Wydysh, Emily C; Wolf, Roman F

2017-01-01

In this study, we evaluated the efficacy of combined treatment with ivermectin and fenbendazole (IVM-FBZ) for treating captive olive baboons (Papio anubis) infected with Strongyloides fülleborni and Trichuris trichiura, 2 common nematode parasites of these NHP. Infected baboons were treated for a total of 9 wk with ivermectin (400 μg/kg IM twice weekly) and fenbendazole (50 mg/kg PO once daily for 3 d; 3 rounds of treatment, 21 d apart). Five baboons naturally infected with both S. fülleborni and T. trichiura (n = 4) or S. fülleborni alone (n = 1) received the combination therapy; an additional baboon infected with both parasites served as a nontreated control. The efficacy of IVM-FBZ was measured as the reduction in fecal egg counts of S. fülleborni and T. trichiura as determined by quantitative fecal flotation examination after treatment of baboons with IVM-FBZ. All baboons treated with IVM-FBZ stopped shedding S. fülleborni and T. trichiura eggs by 8 d after treatment and remained negative for at least 161 d. The nontreated control baboon shed S. fülleborni and T. trichiura eggs throughout the study period. Our results indicate that the IVM-FBZ regimen was efficacious for treating olive baboons infected with S. fülleborni and T. trichiura.

Marfan Syndrome (For Teens)

Science.gov (United States)

... genetic disorder called Marfan syndrome. What Is Marfan Syndrome? Marfan syndrome is named after Antoine Marfan, the French ... immediately. What's Life Like for Teens With Marfan Syndrome? Marfan syndrome affects people differently, so life is not ...

Learning about Marfan Syndrome

Science.gov (United States)

... Additional Resources for Marfan Syndrome What is Marfan syndrome? Marfan syndrome is one of the most common inherited ... FAQ Top of page Additional Resources For Marfan Syndrome Marfan syndrome [nlm.nih.gov] From Medline Plus Marfan ...

Divorce in families of children with Down Syndrome or Rett Syndrome.

Science.gov (United States)

Lederman, Vivian Renne Gerber; Alves, Bianca dos Santos; Negrão, Juliana; Maria, Juliana Negrão; Schwartzman, José Salomão; D'Antino, Maria Eloisa Famá; Brunoni, Decio

2015-05-01

This study evaluates the impact in the stability and management of the marriage of parents of a child with Down or Rett Syndrome. Morbidity of the syndromes and the marital status of the couples before and after the birth of the affected children were considered variables. The divorce rate in families with Down syndrome was 10%, similar to the Brazilian rate population. In Rett Syndrome, the divorce rate was significantly higher, 23.5%. The higher morbidity of Rett Syndrome, and the moment of diagnosis could be relevant factors for the increased divorce rate related to this syndrome.

The sick-building syndrome; Das Sick-Building-Syndrom

Energy Technology Data Exchange (ETDEWEB)

Henne, A.; Neumann, H.F.; Winneke, G.

1992-12-31

The sick-building syndrome is characterized by the presence of general, non-specific symptoms (e.g., headache, tiredness, respiratory problems, eye trouble, vertigo, nausea, unspecific hypersensitivity) in association with a particular indoor ambience. It is clearly distinguishable from `building-related illness`, referring to a well-defined clinical syndrome due to staying in a building and for which a cause can, in general, be established. Disorders in the case of the sick-building syndrome are manifold and confirmed objectifiable results are hardly available so far. Yet there are some organ-related methods for the confirmation of findings concerning, for instance, the eyes, the skin and the area of the nose. The causes of the incidence of sick-building syndrome are more or less unclear. It is a multifactorial phenomenon involving physical, biological, chemical, individual-specific and psychological factors. Buildings where sick-building syndrome occurs typically exhibit certain properties. The European Community has already made proposals for the investigation of incriminated buildings. A systematic survey by questionnaire together with individual interviews plays an import part towards clarifying the syndrome. (orig./UWA) [Deutsch] Das Sick-Building-Syndrom beschreibt das Vorhandensein von allgemeinen, nicht spezifischen Symptomen (z.B. Kopfschmerzen, Muedigkeit, Atembeschwerden, Augenreizungen, Schwindelgefuehl, Uebelkeit, unspezifische Ueberempfindlichkeit), assoziiert mit einer besonderen Innenraumumgebung. Deutlich hiervon abzugrenzen ist die ``Building related illness``, bei der ein klinisch definiertes Krankheitsbild vorliegt, das durch den Aufenthalt im Gebaeude verursacht wird und fuer das im allgemeinen eine Ursache ermittelt werden kann. Das Beschwerdebild beim Sick-Building-Syndrom ist vielfaeltig, und gesicherte, objektivierbare Befunde liegen hierzu bisher kaum vor. Dennoch gibt es einige organbezogenen Methoden zur Befundabsicherung, z.B. fuer das

Hypokalaemia: Bartter's syndrome or pseudo-Bartter's syndrome?

OpenAIRE

Robb, J D; Delargy, M A; Nolan, M; Tomkin, G H

1984-01-01

The difficulties in the diagnosis of hypokalaemia are often considerable. This paper reports three patients who presented with hypokalaemia. Investigations are described which may help to distinguish Bartter's syndrome from pseudo-Bartter's syndrome.

Syndromes with supernumerary teeth.

Science.gov (United States)

Lubinsky, Mark; Kantaputra, Piranit Nik

2016-10-01

While most supernumerary teeth are idiopathic, they can be associated with a number of Mendelian syndromes. However, this can also be a coincidental finding, since supernumerary teeth occur in 6% or more of the normal population. To better define this relationship, we analyzed the evidence for specific associations. We excluded conditions with a single affected patient reported, supernumerary teeth adjacent to clefts or other forms of alveolar disruption (as secondary rather than primary findings), and natal teeth, which can involve premature eruption of a normal tooth. Since, the cause of supernumerary teeth shows considerable heterogeneity, certain findings are less likely to be coincidental, such as five or more supernumerary teeth in a single patient, or locations outside of the premaxilla. We found only eight genetic syndromes with strong evidence for an association: cleidocranial dysplasia; familial adenomatous polyposis; trichorhinophalangeal syndrome, type I; Rubinstein-Taybi syndrome; Nance-Horan syndrome; Opitz BBB/G syndrome; oculofaciocardiodental syndrome; and autosomal dominant Robinow syndrome. There is also suggestive evidence of an association with two uncommon disorders, Kreiborg-Pakistani syndrome (craniosynostosis and dental anomalies), and insulin-resistant diabetes mellitus with acanthosisnigricans. An association of a Mendelian disorder with a low frequency manifestation of supernumerary teeth is difficult to exclude without large numbers, but several commonly cited syndromes lacked evidence for clear association, including Hallermann-Streiff syndrome, Fabry disease, Ehlers-Danlos syndrome, Apert and Crouzon syndromes, Zimmermann-Laband syndrome, and Ellis-van Creveld syndrome. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

What Is Usher Syndrome?

Science.gov (United States)

... Action You are here Home › Retinal Diseases Listen Usher Syndrome What is Usher syndrome? How is Usher syndrome ... available? Are there any related diseases? What is Usher Syndrome? Usher syndrome is an inherited condition characterized by ...

Autoimmune/inflammatory syndrome induced by adjuvants (Shoenfeld's syndrome) - An update.

Science.gov (United States)

Watad, A; Quaresma, M; Brown, S; Cohen Tervaert, J W; Rodríguez-Pint, I; Cervera, R; Perricone, C; Shoenfeld, Y

2017-06-01

Autoimmune/inflammatory syndrome induced by adjuvants (ASIA) has been widely described in many studies conducted thus far. The syndrome incorporates five immune-mediated conditions, all associated with previous exposure to various agents such as vaccines, silicone implants and several others. The emergence of ASIA syndrome is associated with individual genetic predisposition, for instance those carrying HLA-DRB1*01 or HLA-DRB4 and results from exposure to external or endogenous factors triggering autoimmunity. Such factors have been demonstrated as able to induce autoimmunity in both animal models and humans via a variety of proposed mechanisms. In recent years, physicians have become more aware of the existence of ASIA syndrome and the relationship between adjuvants exposure and autoimmunity and more cases are being reported. Accordingly, we have created a registry that includes at present more than 300 ASIA syndrome cases that have been reported by different physicians worldwide, describing various autoimmune conditions induced by diverse adjuvants. In this review, we have summarized the updated literature on ASIA syndrome and the knowledge accumulated since 2013 in order to elucidate the association between the exposure to various adjuvant agents and its possible clinical manifestations. Furthermore, we especially referred to the relationship between ASIA syndrome and systemic lupus erythematosus (SLE) and antiphospholipid syndrome (APS).

Toxic shock syndrome

Science.gov (United States)

Staphylococcal toxic shock syndrome; Toxic shock-like syndrome; TSLS ... Toxic shock syndrome is caused by a toxin produced by some types of staphylococcus bacteria. A similar problem, called toxic shock- ...

Eosinophilic leukocytoclastic vasculitis - a spectrum ranging from Wells' syndrome to Churg-Strauss syndrome?

Science.gov (United States)

Ratzinger, Gudrun; Zankl, Julia; Eisendle, Klaus; Zelger, Bernhard

2014-01-01

Wells' syndrome is defined as an inflammatory disorder with the histopathological presence of eosinophilic infiltrates and flame figures in the absence of vasculitis. Eosinophilic leukocytoclastic vasculitis shows eosinophilic infiltrates in combination with vasculitic changes. And Churg Strauss Syndrome comprises all three characteristics - eosinophilic infiltrates, vasculitis and flame figures. To determine whether these three diseases are distinct entities or different manifestations of a similar clinicopathologic process. Histopathological samples and clinical courses of 17 patients with eosinophilic infiltrates, flame figures and clinical features of Wells' syndrome were re-evaluated. Histopathologically, we focused on the presence or absence of vasculitic features. Clinically, we included only patients who were diagnosed with Wells' syndrome at least once in the course of their disease. 4 patients were finally diagnosed with Wells' syndrome, 5 with eosinophilic leukocytoclastic vasculitis and 6 with Churg Strauss syndrome. Further, we had one case of an overlap between Wells' syndrome and eosinophilic vasculitis and one case of Wegener granulomatosis. Vasculitic features were found in the samples of all patients. Histologically, we find vasculitic features in typical presentations of Wells' syndrome. Clinically, we find typical features of Wells' syndrome in patients finally diagnosed with eosinophilic leukocytoclastic vasculitis or Churg Strauss syndrome. Furthermore, we have observed and formerly reported 3 patients with progression from Wells' syndrome to Churg Strauss syndrome. Thus, we assume that eosinophilic leukocytoclastic vasculitis might form a bridge between Wells' syndrome and Churg Strauss syndrome.

Management of moyamoya syndrome in patients with Noonan syndrome.

Science.gov (United States)

Gupta, Mihir; Choudhri, Omar A; Feroze, Abdullah H; Do, Huy M; Grant, Gerald A; Steinberg, Gary K

2016-06-01

A few isolated reports have described an association between Noonan syndrome and cerebrovascular abnormalities, including moyamoya syndrome. These reports have been limited to pediatric patients presenting with recurrent transient ischemic attacks (TIA) or headaches. Management has primarily been pharmacologic, with only one prior report of surgical revascularization to our knowledge. We report four cases of Noonan syndrome patients presenting with headaches and/or sensorimotor strokes in childhood that caused unilateral sensorimotor impairment. Cerebral angiography and MRI revealed bilateral moyamoya syndrome. All patients underwent successful bilateral extracranial-to-intracranial revascularization. The first patient was a 10-year-old girl who presented following a hemorrhagic stroke and recovered well after indirect bypass. The second patient was an adult with a history of childhood stroke whose symptoms progressed in adulthood. She underwent a direct bypass and improved, but continued to experience TIA at her 4 year follow-up. The third patient was a 7-year-old girl with headaches and a new onset TIA who failed pharmacological therapy and subsequently underwent bilateral indirect bypass. The fourth patient was a 24-year-old woman with worsening headaches and an occluded left middle cerebral artery from unilateral moyamoya syndrome. A left sided direct bypass was completed given delayed MRI perfusion with poor augmentation. To our knowledge these are the first reported surgical cases of combined Noonan and moyamoya syndrome. These cases highlight the need to recognize moyamoya syndrome in patients with Noonan syndrome. Early surgical revascularization should be pursued in order to prevent symptom progression. Copyright © 2015 Elsevier Ltd. All rights reserved.

Obstructive sleep apnoea/hypopnoea syndrome in adults with Down syndrome

OpenAIRE

Hill, Elizabeth A.

2016-01-01

Key points Adults with Down syndrome are predisposed to obstructive sleep apnoea/hypopnoea syndrome (OSAHS) due to overlap between the Down syndrome phenotype and OSAHS risk factors. The prevalence of OSAHS in adults with Down syndrome is estimated at 35?42%. This is up to ten-times higher than in the general adult population. Symptoms of OSAHS, including behavioural and emotional disturbances as well as standard symptoms such as sleepiness, should be monitored as part of regular health surve...

Shigellosis Caused by CTX-M Type ESBL Producing Shigella flexneri in Two Siblings of Rural Nepal: First Case Report from the Country

Directory of Open Access Journals (Sweden)

Narayan Prasad Parajuli

2017-01-01

Full Text Available Shigellosis is an acute infectious disease characterized as severe bloody diarrhea (dysentery and is accountable for a significant burden of morbidity and mortality especially in children under the age of 5 years. Antimicrobial therapy is required in the cases of severe dysentery associated with Shigella. However, emergence of multidrug resistant (MDR strains of Shigella spp. over the last two decades has restricted the use of common therapeutic antimicrobials. In MDR strains, the third-generation cephalosporins have been used for the treatment, but, unfortunately, emerging reports of enzyme mediated β-lactam resistance among Shigella isolates from various parts of the world have greatly compromised the therapy of pediatric dysentery. In Nepal, drug resistant strains of Shigella spp. have been reported, but MDR and extended spectrum β-lactamase (ESBL producing strains were previously unknown. Here, we report two Shigella flexneri isolates harboring ESBL genotype-CTX-M associated with acute dysentery in two siblings which were presented and treated in a tertiary care teaching hospital of Kathmandu, Nepal.

What is Metabolic Syndrome?

Science.gov (United States)

... Intramural Research Home / Metabolic Syndrome Metabolic Syndrome Also known as What Is Metabolic syndrome ... metabolic risk factors to be diagnosed with metabolic syndrome. Metabolic Risk Factors A Large Waistline Having a large ...

Prune belly syndrome

Science.gov (United States)

Eagle-Barrett syndrome; Triad syndrome ... The exact causes of prune belly syndrome are unknown. The condition affects mostly boys. While in the womb, the developing baby's abdomen swells with fluid. Often, the cause is ...

Gorlin-goltz syndrome

Directory of Open Access Journals (Sweden)

B V Shobha

2011-01-01

Full Text Available Gorlin-Goltz syndrome also known as nevoid basal cell carcinoma syndrome (NBCCS is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by keratocystic odontogenic tumors (KCOT in the jaw, multiple basal cell carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographic examination in the first decade of life, as KCOTs are usually one of the first manifestations of the NBCCS syndrome. This article reports the case of a 12-year-old girl with Gorlin-Goltz syndrome, emphasizing its clinical and radiographic manifestation. This study highlights the importance of health professionals in the early diagnosis of this syndrome and a multidisciplinary approach to provide a better diagnosis and prognosis.

Refeeding syndrome

OpenAIRE

Tripathy, Swagata; Mishra, Padmini; Dash, S. C.

2008-01-01

Refeeding syndrome is a potentially fatal medical condition that may affect malnourished patients in response to an inappropriately rapid overfeeding. This commonly occurs following the institution of nutritional support, especially parenteral or enteral nutrition. The most characteristic pathophysiology of refeeding syndrome relates to the rapid consumption of phosphate after glucose intake and subsequent hypophosphatemia. Refeeding syndrome can manifest as either metabolic changes （hypokala...

Nevoid basal cell carcinoma syndrome

Science.gov (United States)

NBCC syndrome; Gorlin-Goltz syndrome; Basal cell nevus syndrome; BCNS; Basal cell cancer - nevoid basal cell carcinoma syndrome ... Nevoid basal cell carcinoma nevus syndrome is a rare genetic ... syndrome is known as PTCH ("patched"). The gene is passed down ...

The wellness syndrome

DEFF Research Database (Denmark)

Mik-Meyer, Nanna

2015-01-01

Klumme. Wellness er blevet et syndrom, og dets symptomer er angst, selvbebrejdelser og skyldfølelse. Kommentar med udgangspunkt i: Carl Cederström & Andre Spicer, "The Wellness Syndrome" (Polity Books, 2015. 200 p.).......Klumme. Wellness er blevet et syndrom, og dets symptomer er angst, selvbebrejdelser og skyldfølelse. Kommentar med udgangspunkt i: Carl Cederström & Andre Spicer, "The Wellness Syndrome" (Polity Books, 2015. 200 p.)....

Turner Syndrome: Other FAQs

Science.gov (United States)

... Other FAQs Share Facebook Twitter Pinterest Email Print Turner Syndrome: Other FAQs Basic information for topics, such as " ... been diagnosed with Turner syndrome. Now what? Is Turner syndrome inherited? Turner syndrome is usually not inherited, but ...

Bardet-Biedl syndrome and Usher syndrome.

Science.gov (United States)

Koenig, Rainer

2003-01-01

Bardet-Biedl syndrome (BBS) and Usher syndrome (USH) are the most prevalent syndromic forms of retinitis pigmentosa (RP), together they make up almost a quarter of the patients with RP. BBS is defined by the association of retinopathy, obesity, hypogonadism, renal dysfunction, postaxial polydactyly and mental retardation. This clinically complex syndrome is genetically heterogeneous with linkage to more than 6 loci, and 4 genes have been cloned so far. Recent molecular data present evidence that, in some instances, the clinical manifestation of BBS requires recessive mutations in 1 of the 6 BBS loci plus one or two additional mutations in a second BBS locus (tri- or tetra-allelic inheritance). USH is characterized by the combination of congenital or early-onset sensorineural deafness, RP, and variable degrees of vestibular dysfunction. Each of the three clinical types is genetically heterogeneous: 7 loci have been mapped for type 1, three loci for type 2, and two loci for type 3. Currently, 6 USH genes (MYO7A, USH1C, CDH23, PCDH15, USH2A, USH3) have been identified. Pathogenetically, mutations of the USH1 genes seem to result in defects of auditory and retinal sensory cells, the USH 2 phenotype is caused by defects of extracellular matrix or cell surface receptor proteins, and USH3 may be due to synaptic disturbances. The considerable contribution of syndromic forms of RP requires interdisciplinary approaches to the clinical and diagnostic management of RP patients.

Abdominal compartment syndrome with acute reperfusion syndrome

International Nuclear Information System (INIS)

Maleeva, A.

2017-01-01

Abdominal compartment syndrome was recognized clinically in the 19th century when Marey and Burt observed its association with declines in respiratory function. Abdominal compartment syndrome is first used as a medical terminology from Fietsman in a case of ruptured abdominal aortic aneurysm. A condition caused by abnormally increased pressure within the abdomen. Causes of abdominal compartment syndrome include trauma, surgery, or infection. Common symptoms: abdominal distension, fast heart rate, insufficient urine production, or low blood pressure Medical procedure: nasogastric intubation Surgery: laparotomy Specialists: radiologist, primary care provider (PCP), surgeon, and emergency medicine doctor [6, 10]. Keywords: Stomach. Gastroparesis . Diabetes Mellitus [bg

Munchausen syndrome and Munchausen syndrome by proxy in dermatology.

Science.gov (United States)

Boyd, Alan S; Ritchie, Coleman; Likhari, Sunaina

2014-08-01

Patients with Munchausen syndrome purposefully injure themselves, often with the injection of foreign materials, to gain hospital admission and the attention associated with having a difficult-to-identify condition. Munchausen syndrome by proxy occurs when a child's caregiver, typically the mother, injures the child for the same reasons. Cases of Munchausen syndrome and Munchausen syndrome by proxy with primary cutaneous involvement appear to be rarely described in the literature suggesting either that diagnosis is not made readily or that it is, in fact, an uncommon disorder. At the center of both conditions is significant psychological pathology and treatment is difficult as many patients with Munchausen syndrome when confronted with these diagnostic possibilities simply leave the hospital. Little is known about the long-term outcome or prognosis of these patients. Copyright © 2014 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

Roberts-SC syndrome, a rare syndrome and cleft palate repair

Directory of Open Access Journals (Sweden)

Murthy Jyotsna

2008-01-01

Full Text Available Roberts SC syndrome is a rare syndrome with only 17 previously recognized patients reported in medical literature. The syndrome is characterized by multiple malformations, particularly, symmetrical limb reduction, craniofacial anomalies such as bilateral cleft lip and palate, micrognathia, and severe growth and mental retardation. Our patient, a young child of five years having Roberts-SC, was successfully operated for cleft palate under general anesthesia. The main features of the syndrome and the technical problems of anesthesia and surgery are discussed in this report.

Sjogren-Larsson Syndrome

Science.gov (United States)

... Or In Memory Of Obituaries Contact Us Donate Sjogren-Larsson Syndrome What causes SLS? SLS is caused by mutations ... methods of diagnosing SLS. Other Clinical Names for Sjogren-Larsson Syndrome Other clinical names of Sjogren-Larsson Syndrome include: ...

Redefining syndromic surveillance

Directory of Open Access Journals (Sweden)

Rebecca Katz

2011-12-01

Full Text Available With growing concerns about international spread of disease and expanding use of early disease detection surveillance methods, the field of syndromic surveillance has received increased attention over the last decade. The purpose of this article is to clarify the various meanings that have been assigned to the term syndromic surveillance and to propose a refined categorization of the characteristics of these systems. Existing literature and conference proceedings were examined on syndromic surveillance from 1998 to 2010, focusing on low- and middle-income settings. Based on the 36 unique definitions of syndromic surveillance found in the literature, five commonly accepted principles of syndromic surveillance systems were identified, as well as two fundamental categories: specific and non-specific disease detection. Ultimately, the proposed categorization of syndromic surveillance distinguishes between systems that focus on detecting defined syndromes or outcomes of interest and those that aim to uncover non-specific trends that suggest an outbreak may be occurring. By providing an accurate and comprehensive picture of this field’s capabilities, and differentiating among system types, a unified understanding of the syndromic surveillance field can be developed, encouraging the adoption, investment in, and implementation of these systems in settings that need bolstered surveillance capacity, particularly low- and middle-income countries.

Gorlin-Goltz Syndrome

Directory of Open Access Journals (Sweden)

Padma Pandeshwar

2012-01-01

Full Text Available The Gorlin-Goltz syndrome (GGS (the nevoid basal cell carcinoma syndrome—NBCCS is a rare autosomal dominant syndrome caused due to mutations in the PTCH (patched gene found on chromosome arm 9q. The syndrome, characterized by increased predisposition to develop basal cell carcinoma and associated multiorgan anomalies, has a high level of penetrance and variable expressiveness. GGS is a multidisciplinary problem, early diagnosis of which allows introduction of secondary prophylaxis and following an appropriate treatment to delay the progress of the syndrome. The following report emphasizes the need for awareness of the diagnostic criteria of this syndrome in cases with no typical skin lesions.

Sjögren syndrome

Science.gov (United States)

Xerostomia - Sjögren syndrome; Keratoconjunctivitis sicca - Sjögren; Sicca syndrome ... The cause of Sjögren syndrome is unknown. It is an autoimmune disorder. This means the body attacks healthy tissue by mistake. The syndrome occurs most ...

Marfan Syndrome (For Parents)

Science.gov (United States)

... en español Síndrome de Marfan What Is Marfan Syndrome? Marfan syndrome is a genetic disorder of the body's ... bones , blood vessels, and organs. What Causes Marfan Syndrome? Marfan syndrome happens because of an abnormality in one ...

Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome).

Science.gov (United States)

Kiran, N K; Tilak Raj, T N; Mukunda, K S; Rajashekar Reddy, V

2012-10-01

The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by odontogenic keratocysts in the jaw, multiple basal cell nevi carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the odontogenic keratocysts are usually one of the first manifestations of the syndrome. This case report presents a patient diagnosed as NBCCS by clinical, radiographic and histological findings in a 13-year-old boy. This paper highlights the importance of early diagnosis of NBCCS which can help in preventive multidisciplinary approach to provide a better prognosis for the patient.

Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome

Directory of Open Access Journals (Sweden)

N K Kiran

2012-01-01

Full Text Available The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS, is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by odontogenic keratocysts in the jaw, multiple basal cell nevi carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the odontogenic keratocysts are usually one of the first manifestations of the syndrome. This case report presents a patient diagnosed as NBCCS by clinical, radiographic and histological findings in a 13-year-old boy. This paper highlights the importance of early diagnosis of NBCCS which can help in preventive multidisciplinary approach to provide a better prognosis for the patient.

``Battered child`` syndrome; Das ``Battered-Child``-Syndrom

Energy Technology Data Exchange (ETDEWEB)

Elsner, K.; Merk, J.; Sokiranski, R. [Ulm Univ. (Germany). Abt. Diagnostische Radiologie

1997-10-01

Synonyms for the `battered child` syndrome (BCS) are terms describing the physical and body aspects of the process, such as `child abuse`, or `non-accidental injury`. These are to be distinguished from the psychic aspects and abuse, emotional and bodily neglect, and sexual abuse. Most cases are one or another combination of these aspects. Radiology is the essential method for giving proof of such abuses, identifying the signs of maltreatment in a medical record, or for disproving suspected abuse. (orig./AJ) [Deutsch] Als Synonym fuer das `Battered-Child`-Syndrom (BCS) stehen die Begriffe der koerperlichen-/physikalischen-Kindesmisshandlung, im angelsaechsischen Sprachraum die Begriffe `Child Abuse` und `Nonaccidental Injury`. Vom Syndrom abzugrenzen sind die seelische Misshandlung, die seelische und koerperliche Vernachlaessigung, und der sexuelle Missbrauch. Kombinationsformen sind nicht selten. Bei der Diagnostik des Syndroms spielt die Radiologie eine entscheidende Rolle. So hilft der Einsatz adaequater Untersuchungsmethoden, den Tatbestand der Misshandlung zu identifizieren und zu dokumentieren, aber auch einen Verdacht zu widerlegen. (orig./AJ)

Hepatorenal syndrome

Science.gov (United States)

... 2016:chap 153. Nevah MI, Fallon MB. Hepatic encephalopathy, hepatorenal syndrome, hepatopulmonary syndrome, and other systemic complications of liver disease. In: Feldman M, Friedman LS, Brandt LJ, ...

Prevalence of Burnout Syndrome in patients admitted with acute coronary syndrome.

Science.gov (United States)

Prosdócimo, Ana Cláudia Giaxa; Lucina, Luciane Boreki; Marcia, Olandoski; Jobs, Priscila Megda João; Schio, Nicolle Amboni; Baldanzi, Fernanda Fachin; Costantini, Costantino Ortiz; Benevides-Pereira, Ana Maria Teresa; Guarita-Souza, Luiz Cesar; Faria-Neto, José Rocha

2015-03-01

Burnout Syndrome is the extreme emotional response to chronic occupational stress, manifesting as physical and mental exhaustion. Although associated with higher prevalence of cardiovascular risk factors, no study so far has evaluated whether the Burnout Syndrome could be a prevalent factor in non-elderly individuals active in the labor market, admitted for acute coronary syndrome (ACS). To evaluate the prevalence of the Burnout Syndrome in non-elderly, economically active patients, hospitalized with ACS. Cross-sectional study conducted in a tertiary and private cardiology center, with economically active patients aged Burnout Syndrome was evaluated with the Burnout Syndrome Inventory (BSI), which assesses workplace conditions and four dimensions that characterize the syndrome: emotional exhaustion (EE), emotional distancing (EmD), dehumanization (De) and professional fulfillment (PF). The Lipp's Stress Symptoms Inventory for Adults (LSSI) was applied to evaluate global stress. Of 830 patients evaluated with suspected ACS, 170 met the study criteria, 90% of which were men, overall average age was 52 years, and 40.5% had an average income above 11 minimum wages. The prevalence of the Burnout Syndrome was 4.1%. When we evaluated each dimension individually, we found high EE in 34.7%, high De in 52.4%, high EDi in 30.6%, and low PF in 5.9%. The overall prevalence of stress was 87.5%. We found a low prevalence of Burnout Syndrome in an economically active, non-elderly population among patients admitted for ACS in a tertiary and private hospital.

Turner Syndrome (For Teens)

Science.gov (United States)

... Staying Safe Videos for Educators Search English Español Turner Syndrome KidsHealth / For Teens / Turner Syndrome What's in this ... en español El síndrome de Turner What Is Turner Syndrome? Turner syndrome (TS) is a genetic condition found ...

DIDMOAD (Wolfram Syndrome

Directory of Open Access Journals (Sweden)

Masoud Nashibi

2016-07-01

Full Text Available Wolfram syndrome was first described by physician D J Wolfram and Wagener in 1938. This autosomal recessive syndrome is also referred to as DIDMOAD syndrome which stands for Diabetes Insipidus, Insulin Dependent Diabetes Mellitus, Optic Atrophy and Deafness

[The Capgras syndrome].

Science.gov (United States)

Anikina, M A; Levin, O S

2013-01-01

The Capgras syndrome is one of delusional-like misidentification syndrome in which a person holds a delusion that one or several his/her friends or relatives have been replaced by an identical-looking impostor. As any other delusional disorder, the Capgras syndrome is characterized by stability despite the indisputable arguments against fault views. Initially, this syndrome was considered as a presentation of schizophrenia but later it has been described in brain organic disorders, primarily in elderly patients with dementia.

Revesz syndrome

Directory of Open Access Journals (Sweden)

Dayane Cristine Issaho

2015-04-01

Full Text Available Revesz syndrome is a rare variant of dyskeratosis congenita and is characterized by bilateral exudative retinopathy, alterations in the anterior ocular segment, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation, bone marrow failure, cerebral calcification, cerebellar hypoplasia and psychomotor retardation. Few patients with this syndrome have been reported, and significant clinical variations exist among patients. This report describes the first Brazilian case of Revesz syndrome and its ocular and clinical features.

Cardiorenal Syndrome in Acute Heart Failure Syndromes

Directory of Open Access Journals (Sweden)

Mohammad Sarraf

2011-01-01

Full Text Available Impaired cardiac function leads to activation of the neurohumoral axis, sodium and water retention, congestion and ultimately impaired kidney function. This sequence of events has been termed the Cardiorenal Syndrome. This is different from the increase in cardiovascular complications which occur with primary kidney disease, that is, the so-called Renocardiac Syndrome. The present review discusses the pathogenesis of the Cardiorenal Syndrome followed by the benefits and potential deleterious effects of pharmacological agents that have been used in this setting. The agents discussed are diuretics, aquaretics, natriuretic peptides, vasodilators, inotropes and adenosine α1 receptor antagonists. The potential role of ultrafiltration is also briefly discussed.

Interstitial Cystitis/Painful Bladder Syndrome and Associated Medical Conditions With an Emphasis on Irritable Bowel Syndrome, Fibromyalgia and Chronic Fatigue Syndrome

DEFF Research Database (Denmark)

Nickel, J.C.; Tripp, D.A.; Pontari, M.

2010-01-01

of associated conditions increased (ie localized, regional, systemic), pain, stress, depression and sleep disturbance increased while social support, sexual functioning and quality of life deteriorated. Anxiety and catastrophizing remained increased in all groups. Symptom duration was associated......Purpose: We characterized and compared the impact of clinical phenotypic associations between interstitial cystitis/painful bladder syndrome and controls in relation to potentially related conditions, particularly irritable bowel syndrome, fibromyalgia and chronic fatigue syndrome. Materials...... cystitis/painful bladder syndrome vs controls was irritable bowel syndrome 38.6% vs 5.2%, fibromyalgia 17.7% vs 2.6% and chronic fatigue syndrome 9.5% vs 1.7% (all p

Plummer-Vinson syndrome

Directory of Open Access Journals (Sweden)

Novacek Gottfried

2006-09-01

Full Text Available Abstract Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs. Exact data about epidemiology of the syndrome are not available; the syndrome is extremely rare. Most of the patients are white middle-aged women, in the fourth to seventh decade of life but the syndrome has also been described in children and adolescents. The dysphagia is usually painless and intermittent or progressive over years, limited to solids and sometimes associated with weight loss. Symptoms resulting from anemia (weakness, pallor, fatigue, tachycardia may dominate the clinical picture. Additional features are glossitis, angular cheilitis and koilonychia. Enlargement of the spleen and thyroid may also be observed. One of the most important clinical aspects of Plummer-Vinson syndrome is the association with upper alimentary tract cancers. Etiopathogenesis of Plummer-Vinson syndrome is unknown. The most important possible etiological factor is iron deficiency. Other possible factors include malnutrition, genetic predisposition or autoimmune processes. Plummer-Vinson syndrome can be treated effectively with iron supplementation and mechanical dilation. In case of significant obstruction of the esophageal lumen by esophageal web and persistent dysphagia despite iron supplementation, rupture and dilation of the web are necessary. Since Plummer-Vinson syndrome is associated with an increased risk of squamous cell carcinoma of the pharynx and the esophagus, the patients should be followed closely.

Genetics Home Reference: antiphospholipid syndrome

Science.gov (United States)

... Share: Email Facebook Twitter Home Health Conditions Antiphospholipid syndrome Antiphospholipid syndrome Printable PDF Open All Close All Enable ... area? Other Names for This Condition anti-phospholipid syndrome antiphospholipid antibody syndrome Hughes syndrome Related Information How are ...

Genetics Home Reference: Costello syndrome

Science.gov (United States)

... other genetic conditions, cardiofaciocutaneous syndrome (CFC syndrome) and Noonan syndrome . In affected infants, it can be difficult to ... These individuals may actually have CFC syndrome or Noonan syndrome , which are caused by mutations in related genes. ...

Metabolic syndrome and menopause

Directory of Open Access Journals (Sweden)

Jouyandeh Zahra

2013-01-01

Full Text Available Abstract Background The metabolic syndrome is defined as an assemblage of risk factors for cardiovascular diseases, and menopause is associated with an increase in metabolic syndrome prevalence. The aim of this study was to assess the prevalence of metabolic syndrome and its components among postmenopausal women in Tehran, Iran. Methods In this cross-sectional study in menopause clinic in Tehran, 118 postmenopausal women were investigated. We used the adult treatment panel 3 (ATP3 criteria to classify subjects as having metabolic syndrome. Results Total prevalence of metabolic syndrome among our subjects was 30.1%. Waist circumference, HDL-cholesterol, fasting blood glucose, diastolic blood pressure ,Systolic blood pressure, and triglyceride were significantly higher among women with metabolic syndrome (P-value Conclusions Our study shows that postmenopausal status is associated with an increased risk of metabolic syndrome. Therefore, to prevent cardiovascular disease there is a need to evaluate metabolic syndrome and its components from the time of the menopause.

Wolfram syndrome 1 and Wolfram syndrome 2.

Science.gov (United States)

Rigoli, Luciana; Di Bella, Chiara

2012-08-01

Wolfram syndrome 1 (WS1) is an autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DI DM OA D syndrome) associated with other variable clinical manifestations. The causative gene for WS1 (WFS1) encoding wolframin maps to chromosome 4p16.1. Wolframin has an important function in maintaining the homeostasis of the endoplasmic reticulum (ER) in pancreatic β cells. Recently, another causative gene, CISD2, has been identified in patients with a type of Wolfram syndrome (WS2) resulting in early optic atrophy, diabetes mellitus, deafness, decreased lifespan, but not diabetes insipidus. The CISD2-encoded protein ERIS (endoplasmic reticulum intermembrane small protein) also localizes to ER, but does not interact directly with wolframin. ERIS maps to chromosome 4q22. Numerous studies have shown an interesting similarity between WFS1 and CISD2 genes. Experimental studies demonstrated that the Cisd2 knockout (Cisd2) mouse shows premature aging and typical symptoms of Wolfram syndrome. These researches provide interesting insight into the relation of neurodegenerative diseases, mitochondrial disorders, and autophagy and are useful for the pathophysiological understanding of both Wolfram syndrome and mitochondrial-mediated premature aging. The knowledge of WS1 and WS2 pathogenesis, and of the interactions between WFS1 and CISD2 genes, is useful for accurate diagnostic classification and for diagnosis of presymptomatic individuals.

Whipworms in humans and pigs

DEFF Research Database (Denmark)

Hawash, Mohamed Bayoumi Fahmy; Betson, Martha; Al-Jubury, Azmi

2016-01-01

BACKGROUND: Trichuris suis and T. trichiura are two different whipworm species that infect pigs and humans, respectively. T. suis is found in pigs worldwide while T. trichiura is responsible for nearly 460 million infections in people, mainly in areas of poor sanitation in tropical and subtropical...... on different continents, namely Denmark, USA, Uganda, Ecuador, China and St. Kitts (Caribbean). Additional sequences available from GenBank were incorporated into the analyses. RESULTS: We found no differentiation between human-derived Trichuris in Uganda and the majority of the Trichuris samples from non...

Interaction Between Syndromic and Non-Syndromic Factors Affecting Speech and Language Development in Treacher-Collins Syndrome

Directory of Open Access Journals (Sweden)

Marziyeh Poorjavad

2011-09-01

Full Text Available Background: Treacher-Collins syndrome is a congenital craniofacial disorder with multiple anomalies. This syndrome affects the maxilla, mandible, eyes, middle and outer ears, and soft palate. Conductive hearing loss due to the deformities of the middle and external ears is prevalent. The characteristics of this syndrome include multiple and serious threats to normal communication development in children. In this study, speech and language features of a Persian speaking child with this syndrome are presented.Case: The case was an 8-year old girl with Treacher-Collins syndrome and bilateral moderate conductive hearing loss due to atretic canal. In language and speech assessments, moderate hypernasality, numerous compensatory errors and morphosyntactic deficits were observed. There were 13 phonemes that were incorrectly produced at least in one position. Besides, she used 22 types of phonological processes that were abnormal and disappear before the age of three in normal Persian speaking children.Conclusion: Moderate hearing loss, velopharyngeal incompetency, malocclusion and dental anomalies, attention deficit/hyperactivity disorder (ADHD and environmental factors resulted in severe speech and language disorders in this case. These disorders affected her academic performance as well. Moderate hypernasality, numerous compensatory errors, and excessive and abnormal use of phonological processes were not presented as prevalent characteristics of Treacher-Collins syndrome in other resources.

Urofacial syndrome

Directory of Open Access Journals (Sweden)

Kamal F Akl

2012-01-01

Full Text Available The urofacial syndrome is characterized by functional obstructive uropathy asso-ciated with an inverted smile. The importance of the subject is that it sheds light, not only on the muscles of facial expression, but also on the inheritance of voiding disorders and lower urinary tract malformations. We report a 10-year-old-male patient who had the urofacial syndrome. Early diagnosis of the urofacial syndrome is important to avoid upper urinary tract damage and renal failure.

Felty syndrome

Science.gov (United States)

Seropositive rheumatoid arthritis (RA); Felty's syndrome ... The cause of Felty syndrome is unknown. It is more common in people who have had rheumatoid arthritis (RA) for a long time. People with ...

Pendred Syndrome

Science.gov (United States)

... other possible long-term consequences of the syndrome. Children with Pendred syndrome should start early treatment to gain communication skills, such as learning sign language or cued speech or learning to ...

Unusual headache syndromes.

Science.gov (United States)

Queiroz, Luiz P

2013-01-01

Some headache syndromes have few cases reported in the literature. Their clinical characteristics, pathogenesis, and treatment may have not been completely defined. They may not actually be uncommon but rather under-recognized and/or underreported. A literature review of unusual headache syndromes, searching PubMed and ISI Web of Knowledge, was performed. After deciding which disorders to study, relevant publications in scientific journals, including original articles, reviews, meeting abstracts, and letters or correspondences to the editors were searched. This paper reviewed the clinical characteristics, the pathogenesis, the diagnosis, and the treatment of five interesting and unusual headache syndromes: exploding head syndrome, red ear syndrome, neck-tongue syndrome, nummular headache, and cardiac cephalgia. Recognizing some unusual headaches, either primary or secondary, may be a challenge for many non-headache specialist physicians. It is important to study them because the correct diagnosis may result in specific treatments that may improve the quality of life of these patients, and this can even be life saving. © 2013 American Headache Society.

Burnout Syndrome of Teachers

OpenAIRE

Semrádová, Michaela

2013-01-01

The bachelor's thesis covers burnout syndrome of teachers. Defines burnout syndrome, describes its causes and symptoms. Describes teaching as helping profession and focousing on stressful situations at school. In the last chapter described different prevention strategies burnout syndrome. Key words: burnout syndrome, teaching, teacher, helping professions, beginning teacher, stress

Prevalence of Burnout Syndrome in Patients Admitted with Acute Coronary Syndrome

Directory of Open Access Journals (Sweden)

Ana Cláudia Giaxa Prosdócimo

2015-03-01

Full Text Available Background: Burnout Syndrome is the extreme emotional response to chronic occupational stress, manifesting as physical and mental exhaustion. Although associated with higher prevalence of cardiovascular risk factors, no study so far has evaluated whether the Burnout Syndrome could be a prevalent factor in non-elderly individuals active in the labor market, admitted for acute coronary syndrome (ACS. Objective: To evaluate the prevalence of the Burnout Syndrome in non-elderly, economically active patients, hospitalized with ACS. Methods: Cross-sectional study conducted in a tertiary and private cardiology center, with economically active patients aged <65 years, hospitalized with diagnosis of ACS. The Burnout Syndrome was evaluated with the Burnout Syndrome Inventory (BSI, which assesses workplace conditions and four dimensions that characterize the syndrome: emotional exhaustion (EE, emotional distancing (EmD, dehumanization (De and professional fulfillment (PF. The Lipp’s Stress Symptoms Inventory for Adults (LSSI was applied to evaluate global stress. Results: Of 830 patients evaluated with suspected ACS, 170 met the study criteria, 90% of which were men, overall average age was 52 years, and 40.5% had an average income above 11 minimum wages. The prevalence of the Burnout Syndrome was 4.1%. When we evaluated each dimension individually, we found high EE in 34.7%, high De in 52.4%, high EDi in 30.6%, and low PF in 5.9%. The overall prevalence of stress was 87.5%. Conclusion: We found a low prevalence of Burnout Syndrome in an economically active, non-elderly population among patients admitted for ACS in a tertiary and private hospital.

"Nine" syndrome: A new neuro-ophthalmologic syndrome: Report of two cases

Directory of Open Access Journals (Sweden)

Rohan R Mahale

2015-01-01

Full Text Available "Eight-and-a-half" syndrome is a rare condition involving the ipsilateral abducens nucleus or paramedian pontine reticular formation (PPRF, the ipsilateral medial longitudinal fasciculus (MLF, and the adjacent facial colliculus/facial nerve fascicle. The condition is often caused by a lesion (vascular or demyelinating in the dorsal tegmentum of the caudal pons. There are new variants of this syndrome caused by extension of lesion to involve new adjacent structures in pontine tegmentum. We report two patients with different etiology presenting with clinical features suggestive of eight-and-a-half syndrome associated with hemiataxia representing "nine" syndrome (8– + – = 9 adding new dimension to "eight-and-a-half" syndrome.

Mobius syndrome redefined: a syndrome of rhombencephalic maldevelopment.

NARCIS (Netherlands)

Verzijl, H.T.F.M.; Zwaag, A. van der; Cruysberg, J.R.M.; Padberg, G.W.A.M.

2003-01-01

OBJECTIVE: To investigate the variable clinical picture of Mobius syndrome (MIM no. 157900) and to further understand the pathogenesis of the disorder. METHODS: A standardized questionnaire was submitted to 37 Dutch patients with Mobius syndrome. All underwent standardized neurologic examination

Bartter syndrome

Science.gov (United States)

... this page: //medlineplus.gov/ency/article/000308.htm Bartter syndrome To use the sharing features on this page, please enable JavaScript. Bartter syndrome is a group of rare conditions that affect ...

Dravet Syndrome

Science.gov (United States)

... and supports a broad program of basic and clinical research on all types of epilepsy, including Dravet syndrome. Study of the genetic defects responsible for Dravet syndrome and related ... Publications Definition Dravet ...

Genetics Home Reference: Marfan syndrome

Science.gov (United States)

... Share: Email Facebook Twitter Home Health Conditions Marfan syndrome Marfan syndrome Printable PDF Open All Close All Enable Javascript ... Marfan syndrome KidsHealth from Nemours Foundation MalaCards: marfan syndrome Orphanet: Marfan syndrome Your Genes Your Health from Cold Spring ...

Does wastewater discharge have relations with increase of Turner syndrome and Down syndrome?

Science.gov (United States)

Choi, Intae

2017-01-01

The purpose of this study is to examine whether water and air pollutants have a relationship with an increase in the genetic disorders Turner syndrome and Down syndrome, which are caused by congenital chromosomal abnormalities, and to generate a hypothesis about the genetic health effects of environmental pollutants. A panel regression based on random effect was conducted on Korea's metropolitan councils from 2012 to 2014. The dependent variable was the number of Turner syndrome and Down syndrome cases, and the main independent variables were those regarding the water and air pollution. Air pollutants did not have a significant impact on the number of Turner syndrome and Down syndrome cases; however, the increase in number of wastewater discharge companies did have a significant relationship with the number of cases. The more the number of wastewater discharge companies, the more the number Turner syndrome and Down syndrome cases were observed. Therefore, scientific investigation on water and air pollutants in relation with genetic health effects needs to be performed.

Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome: a case report

Directory of Open Access Journals (Sweden)

Shukla Umesh

2010-11-01

Full Text Available Abstract Introduction We report the case of an unusual association of Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome. This association has never previously been reported in the medical literature. Case presentation A nine-year-old Indian girl was referred to our hospital for growth retardation, mental retardation, lax joints, generalized hypertrichosis, and hypoplastic fifth fingernails and toenails. A thorough medical examination and evaluation revealed she had phenotypic features of Coffin-Siris syndrome, with Mayer-Rokitansky-Küster-Hauser syndrome on radiological evaluation. The karyotype of our patient was normal. Conclusion In an unexplained case of mental retardation with facies suggestive of Coffin-Siris syndrome, association with Mayer-Rokitansky-Küster-Hauser syndrome should be considered and the patient should be evaluated for the same. Both of these syndromes may have a common pathogenesis, as yet unknown. This case report has broad implications, as similar cases in future may give insights into the pathogenesis of both these syndromes.

Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome: a case report.

Science.gov (United States)

Goyal, Deepak; Yadav, Dinesh K; Shukla, Umesh; Sethi, Sidharth K

2010-11-08

We report the case of an unusual association of Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome. This association has never previously been reported in the medical literature. A nine-year-old Indian girl was referred to our hospital for growth retardation, mental retardation, lax joints, generalized hypertrichosis, and hypoplastic fifth fingernails and toenails. A thorough medical examination and evaluation revealed she had phenotypic features of Coffin-Siris syndrome, with Mayer-Rokitansky-Küster-Hauser syndrome on radiological evaluation. The karyotype of our patient was normal. In an unexplained case of mental retardation with facies suggestive of Coffin-Siris syndrome, association with Mayer-Rokitansky-Küster-Hauser syndrome should be considered and the patient should be evaluated for the same. Both of these syndromes may have a common pathogenesis, as yet unknown. This case report has broad implications, as similar cases in future may give insights into the pathogenesis of both these syndromes.

Rett Syndrome

Science.gov (United States)

Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to autism spectrum disorder. Babies with Rett syndrome seem to grow and develop normally at first. ...

Caplan syndrome

Science.gov (United States)

... enable JavaScript. Rheumatoid pneumoconiosis (RP; also known as Caplan syndrome) is swelling (inflammation) and scarring of the ... avoid exposure to inorganic dust. Alternative Names RP; Caplan syndrome; Pneumoconiosis - rheumatoid; Silicosis - rheumatoid pneumoconiosis; Coal worker's ...

Sotos Syndrome

Science.gov (United States)

... Clinical Trials Organizations Publications Definition Sotos syndrome (cerebral gigantism) is a rare genetic disorder caused by mutation ... have also been reported. × Definition Sotos syndrome (cerebral gigantism) is a rare genetic disorder caused by mutation ...

Chronic exertional compartment syndrome with medial tibial stress syndrome in twins.

Science.gov (United States)

Banerjee, Purnajyoti; McLean, Christopher

2011-06-14

Chronic exertional compartment syndrome and medial tibial stress syndrome are uncommon conditions that affect long-distance runners or players involved in team sports that require extensive running. We report 2 cases of bilateral chronic exertional compartment syndrome, with medial tibial stress syndrome in identical twins diagnosed with the use of a Kodiag monitor (B. Braun Medical, Sheffield, United Kingdom) fulfilling the modified diagnostic criteria for chronic exertional compartment syndrome as described by Pedowitz et al, which includes: (1) pre-exercise compartment pressure level >15 mm Hg; (2) 1 minute post-exercise pressure >30 mm Hg; and (3) 5 minutes post-exercise pressure >20 mm Hg in the presence of clinical features. Both patients were treated with bilateral anterior fasciotomies through minimal incision and deep posterior fasciotomies with tibial periosteal stripping performed through longer anteromedial incisions under direct vision followed by intensive physiotherapy resulting in complete symptomatic recovery. The etiology of chronic exertional compartment syndrome is not fully understood, but it is postulated abnormal increases in intramuscular pressure during exercise impair local perfusion, causing ischemic muscle pain. No familial predisposition has been reported to date. However, some authors have found that no significant difference exists in the relative perfusion, in patients, diagnosed with chronic exertional compartment syndrome. Magnetic resonance images of affected compartments have indicated that the pain is not due to ischemia, but rather from a disproportionate oxygen supply versus demand. We believe this is the first report of chronic exertional compartment syndrome with medial tibial stress syndrome in twins, raising the question of whether there is a genetic predisposition to the causation of these conditions. Copyright 2011, SLACK Incorporated.

Moyamoya syndrome in a patient with Noonan-like syndrome with loose anagen hair.

Science.gov (United States)

Choi, Jin-Ho; Oh, Moon-Yeon; Yum, Mi-Sun; Lee, Beom Hee; Kim, Gu-Hwan; Yoo, Han-Wook

2015-03-01

Noonan-like syndrome with loose anagen hair is one of the RASopathies characterized by Noonan syndrome-like features with unique ectodermal abnormalities. This syndrome is caused by mutations in the SHOC2 gene. We encountered a patient with moyamoya syndrome associated with Noonan-like syndrome with loose anagen hair presenting with transient ischemic attacks. A 6-year-old girl was diagnosed with Noonan-like syndrome with loose anagen hair because of profound short stature and ectodermal anomalies such as sparse and easily pluckable hair. A heterozygous mutation of c.4A>G (p.S2G) in the SHOC2 gene was identified, and recombinant human growth hormone therapy was initiated at 8 years of age. At age 10, she manifested recurrent left hemiplegia. Moreover, cerebrovascular imaging revealed occlusion or narrowing of both internal carotid arteries and both middle cerebral arteries with distal moyamoya-like vessels. She is treated with aspirin and calcium channel blocker. We describe the first case of Noonan-like syndrome with loose anagen hair associated with moyamoya syndrome, although it has been reported to be associated with a few cases of other RASopathies, including Noonan, cardiofaciocutaneous, and Costello syndromes. This report emphasizes the associations between cerebrovascular anomalies and Noonan-like syndrome with loose anagen hair. Copyright © 2015 Elsevier Inc. All rights reserved.

Abdominal vascular syndromes: characteristic imaging findings

International Nuclear Information System (INIS)

Cardarelli-Leite, Leandro; Velloni, Fernanda Garozzo; Salvadori, Priscila Silveira; Lemos, Marcelo Delboni; D'Ippolito, Giuseppe

2016-01-01

Abdominal vascular syndromes are rare diseases. Although such syndromes vary widely in terms of symptoms and etiologies, certain imaging findings are characteristic. Depending on their etiology, they can be categorized as congenital - including blue rubber bleb nevus syndrome, Klippel-Trenaunay syndrome, and hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome) - compressive - including 'nutcracker' syndrome, median arcuate ligament syndrome, Cockett syndrome (also known as May-Thurner syndrome), and superior mesenteric artery syndrome. In this article, we aimed to illustrate imaging findings that are characteristic of these syndromes, through studies conducted at our institution, as well as to perform a brief review of the literature on this topic. (author)

Abdominal vascular syndromes: characteristic imaging findings

Energy Technology Data Exchange (ETDEWEB)

Cardarelli-Leite, Leandro; Velloni, Fernanda Garozzo; Salvadori, Priscila Silveira; Lemos, Marcelo Delboni; D' Ippolito, Giuseppe, E-mail: leandrocleite@gmail.com [Universidade Federal de Sao Paulo (EPM/UNIFESP), Sao Paulo, SP (Brazil). Escola Paulista de Mediciana. Departmento de Diagnostico por Imagem

2016-07-15

Abdominal vascular syndromes are rare diseases. Although such syndromes vary widely in terms of symptoms and etiologies, certain imaging findings are characteristic. Depending on their etiology, they can be categorized as congenital - including blue rubber bleb nevus syndrome, Klippel-Trenaunay syndrome, and hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome) - compressive - including 'nutcracker' syndrome, median arcuate ligament syndrome, Cockett syndrome (also known as May-Thurner syndrome), and superior mesenteric artery syndrome. In this article, we aimed to illustrate imaging findings that are characteristic of these syndromes, through studies conducted at our institution, as well as to perform a brief review of the literature on this topic. (author)

Cushing's Syndrome

Science.gov (United States)

Cushing's syndrome is a hormonal disorder. The cause is long-term exposure to too much cortisol, a hormone that ... your body to make too much cortisol. Cushing's syndrome is rare. Some symptoms are Upper body obesity ...

Usher Syndrome

Science.gov (United States)

Usher syndrome is an inherited disease that causes serious hearing loss and retinitis pigmentosa, an eye disorder that causes ... and vision. There are three types of Usher syndrome: People with type I are deaf from birth ...

Metabolic Syndrome

Science.gov (United States)

Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These conditions ... agree on the definition or cause of metabolic syndrome. The cause might be insulin resistance. Insulin is ...

Reye Syndrome

Science.gov (United States)

Reye syndrome is a rare illness that can affect the blood, liver, and brain of someone who has recently ... a viral illness, seek medical attention immediately. Reye syndrome can lead to a coma and brain death, ...

Turner Syndrome

Science.gov (United States)

Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete ... t work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...

Apert syndrome (acrocephalosyndactyly

Directory of Open Access Journals (Sweden)

Milovanović J.

2014-01-01

Full Text Available Apert syndrome is named for the French physician, Eugen Apert who was, in 1906. described anomalous shape of the skull with coronary suture synostosis and hypoplasia sphenoethmoidmaxillary part of the face and fingers syndactyly of hands and feet. Apert syndrome accounts for about 4,5% of all craniosynostosis. With the prevalence of 1:160 000-200 000, inherited in an autosomal domi­nant, and in 25% of cases are fresh mutations in the gene. This syndrome has no predilection by gender and race, varies in severity form in witch it is manifested. Anomality of internal organs are very rare, but half of the patients with this syndrome have mental retardation. Apert syndrome has no cure, but surgery can help to correct some of the problems.

Coexistent Brugada Syndrome and Wolff-Parkinson-White Syndrome: What is the Optimal Management?

Directory of Open Access Journals (Sweden)

Abhishek Jaiswal, MBBS

2013-09-01

Full Text Available Coexistent Brugada syndrome and Wolff-Parkinson-White (WPW syndrome is rare, and as such poses management challenges. The overlap of symptoms attributable to each condition, the timing of ventricular stimulation after accessory pathway ablation and the predictive value of programmed stimulation in Brugada syndrome are controversial. We describe a case of coexistent Brugada syndrome and WPW syndrome in a symptomatic young adult. We discuss our treatment approach and the existing literature along with the challenges in management of such cases.

Cowden syndrome

Directory of Open Access Journals (Sweden)

Ravi Prakash S

2010-01-01

Full Text Available Cowden syndrome or multiple hamartoma syndrome is an autosomal dominant condition with variable expressions that result mainly from mutation in the PTEN gene on arm 10q. It is characterized by multiple hamartomatous neoplasms of the skin, oral mucosa, gastrointestinal tract, bones, CNS, eyes, and genitourinary tract. Mucocutaneous features include trichilemmomas, oral mucosal papillomatosis, acral keratosis, and palmoplantar keratosis. Here we present a case of Cowden syndrome in a 14-year-old female patient with the chief complaint of multiple oral papillomatous lesions.

Metabolic syndrome and the risk of adverse cardiovascular events after an acute coronary syndrome.

Science.gov (United States)

Cavallari, Ilaria; Cannon, Christopher P; Braunwald, Eugene; Goodrich, Erica L; Im, KyungAh; Lukas, Mary Ann; O'Donoghue, Michelle L

2018-05-01

Background The incremental prognostic value of assessing the metabolic syndrome has been disputed. Little is known regarding its prognostic value in patients after an acute coronary syndrome. Design and methods The presence of metabolic syndrome (2005 International Diabetes Federation) was assessed at baseline in SOLID-TIMI 52, a trial of patients within 30 days of acute coronary syndrome (median follow-up 2.5 years). The primary endpoint was major coronary events (coronary heart disease death, myocardial infarction or urgent coronary revascularization). Results At baseline, 61.6% ( n = 7537) of patients met the definition of metabolic syndrome, 34.7% (n = 4247) had diabetes and 29.3% had both ( n = 3584). The presence of metabolic syndrome was associated with increased risk of major coronary events (adjusted hazard ratio (adjHR) 1.29, p metabolic syndrome was numerically but not significantly associated with the risk of major coronary events (adjHR 1.13, p = 0.06). Conversely, diabetes was a strong independent predictor of major coronary events in the absence of metabolic syndrome (adjHR 1.57, p metabolic syndrome identified patients at highest risk of adverse outcomes but the incremental value of metabolic syndrome was not significant relative to diabetes alone (adjHR 1.07, p = 0.54). Conclusions After acute coronary syndrome, diabetes is a strong and independent predictor of adverse outcomes. Assessment of the metabolic syndrome provides only marginal incremental value once the presence or absence of diabetes is established.

Separation and Identification of Four New Compounds with Antibacterial Activity from Portulaca oleracea L.

Directory of Open Access Journals (Sweden)

Xia Lei

2015-09-01

Full Text Available The Portulaca oleracea L. (P. oleracea has been used to treat bacillary dysentery for thousands of years in China. Pharmacology studies on P. oleracea have also showed its significant antibacterial effects on the enteropathogenic bacteria, which might reveal the treatment of P. oleracea in cases of bacillary dysentery to some extent. To date, however, the therapeutic basis of P. oleracea treating on bacillary dysentery remains unknown. We determined the antibacterial effective fraction of P. oleracea in a previous study. The current study, which is based on our previous study, was first designed to isolate, identify and screen antibacterial active constituents from P. oleracea. As a result, four new compounds (1–4, portulacerebroside B (1, portulacerebroside C (2, portulacerebroside D (3 and portulaceramide A (4 along with five known compounds (5–9 were isolated, and structures were established by their physico-chemical constants and spectroscopic analysis. The antibacterial activities against common enteropathogenic bacteria were evaluated for all compounds and the new compounds 1–4 showed significant antibacterial effect on enteropathogenic bacteria in vitro, which might contribute to revealing the treatment of P. oleracea in cases of bacillary dysentery.

Separation and Identification of Four New Compounds with Antibacterial Activity from Portulaca oleracea L.

Science.gov (United States)

Lei, Xia; Li, Jianmin; Liu, Bin; Zhang, Ning; Liu, Haiyang

2015-09-10

The Portulaca oleracea L. (P. oleracea) has been used to treat bacillary dysentery for thousands of years in China. Pharmacology studies on P. oleracea have also showed its significant antibacterial effects on the enteropathogenic bacteria, which might reveal the treatment of P. oleracea in cases of bacillary dysentery to some extent. To date, however, the therapeutic basis of P. oleracea treating on bacillary dysentery remains unknown. We determined the antibacterial effective fraction of P. oleracea in a previous study. The current study, which is based on our previous study, was first designed to isolate, identify and screen antibacterial active constituents from P. oleracea. As a result, four new compounds (1-4), portulacerebroside B (1), portulacerebroside C (2), portulacerebroside D (3) and portulaceramide A (4) along with five known compounds (5-9) were isolated, and structures were established by their physico-chemical constants and spectroscopic analysis. The antibacterial activities against common enteropathogenic bacteria were evaluated for all compounds and the new compounds 1-4 showed significant antibacterial effect on enteropathogenic bacteria in vitro, which might contribute to revealing the treatment of P. oleracea in cases of bacillary dysentery.

Cases of Trichohepatoenteric Syndrome (Syndromic Diarrhea with Underlying Crohn’s Disease

Directory of Open Access Journals (Sweden)

Е. А. Roslavtseva

2015-01-01

Full Text Available Tricho-hepato-enteric syndrome (syndromic, phenotypic diarrhea, SD/THES is a rare inborn disease, which affects bowels. It is caused by the mutation of genes SKIV2L or TTC37. Manifestations include intrauterine hypotrophy, severe chronic diarrhea, which starts in infancy, characteristic facial features and hair growth abnormalities, immune disorders. There are data on two patients dealing with tricho-hepato-enteric syndrome with underlying Crohn’s disease. This is the first description of cases of aggravated tricho-hepatoenteric syndrome ever found in Russian medical literature. 

A new familial intrauterine growth retardation syndrome the "3-M syndrome".

Science.gov (United States)

Spranger, J; Opitz, J M; Nourmand, A

1976-09-01

Two pairs of siblings are described with proportionate dwarfism due to skeletal hypoplasia of prenatal onset. The head size was normal for age and disproportionately large for height. The patients had a characteristic face different from that seen in the Silver-Russell syndrome. The family data are in accordance with autosomal recessive inheritance. In spite of some similarities, the bulk of clinical and genetic evidence suggests that the described intrauterine growth retardation syndrome is different from the Silver-Russell syndrome and presents an apparently "new" entity which has been designated 3-M syndrome.

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.

Brain-hepato-renal syndrome (Zellweger syndrome). Report of two cases and a review of the syndrome

International Nuclear Information System (INIS)

Ruiz, T.; Caparros, C.; Blanco, A.; Lopez, A.M.

1997-01-01

Cerebro-hepato-renal syndrome is a rare disorder that is transmitted by autosomal recessive inheritance. Children with this syndrome present mongoloid facies and severe muscle hypotonic at birth. Scimitar-like knee calcifications are considered a pathognomonic feature of this disorder. We present two patients with Zellweger syndrome, according to the diagnosis suggested by our Radiodiagnostic Service. Our objective is to stress the importance of the radiological findings, which in many cases are decisive in establishing the definitive diagnosis. (Author) 10 refs

Does wastewater discharge have relations with increase of Turner syndrome and Down syndrome?

Directory of Open Access Journals (Sweden)

Intae Choi

2017-08-01

Full Text Available The purpose of this study is to examine whether water and air pollutants have a relationship with an increase in the genetic disorders Turner syndrome and Down syndrome, which are caused by congenital chromosomal abnormalities, and to generate a hypothesis about the genetic health effects of environmental pollutants. A panel regression based on random effect was conducted on Korea’s metropolitan councils from 2012 to 2014. The dependent variable was the number of Turner syndrome and Down syndrome cases, and the main independent variables were those regarding the water and air pollution. Air pollutants did not have a significant impact on the number of Turner syndrome and Down syndrome cases; however, the increase in number of wastewater discharge companies did have a significant relationship with the number of cases. The more the number of wastewater discharge companies, the more the number Turner syndrome and Down syndrome cases were observed. Therefore, scientific investigation on water and air pollutants in relation with genetic health effects needs to be performed.

Skin symptoms in four ectodermal dysplasia syndromes including two case reports of Rapp-Hodgkin-Syndrome.

Science.gov (United States)

Knaudt, Björn; Volz, Thomas; Krug, Markus; Burgdorf, Walter; Röcken, Martin; Berneburg, Mark

2012-01-01

The skin, hair and nail changes in four distinct ectodermal dysplasia syndromes are compared and reviewed. These syndromes comprise Christ-Siemens-Touraine syndrome; ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome; ankyloblepharon-ectodermal defects-cleft lip/palate syndrome and Rapp-Hodgkin syndrome. A comprehensive overview of the dermatological signs and symptoms in these syndromes was generated from the database of the Ectodermal Dysplasia Network Germany, the clinical findings in the patients seen in our department and an extensive review of the literature. The findings included abnormalities of skin, sweating, hair and nails. These clinical findings are discussed in relation to the underlying molecular defects known to play a role in these four ectodermal dysplasia syndromes.

Postural tachycardia syndrome and other forms of orthostatic intolerance in Ehlers-Danlos syndrome.

Science.gov (United States)

Roma, Maria; Marden, Colleen L; De Wandele, Inge; Francomano, Clair A; Rowe, Peter C

2018-03-05

To review the association between orthostatic intolerance syndromes and both joint hypermobility and Ehlers-Danlos syndrome, and to propose reasons for identifying hereditary connective tissue disorders in those with orthostatic intolerance in the context of both clinical care and research. We searched the published peer-reviewed medical literature for papers reporting an association between joint hypermobility or Ehlers-Danlos syndrome and orthostatic intolerance. We identified 10 relevant papers. Although methodological variability between studies introduces some limitations, the published literature consistently identifies a significantly higher prevalence of orthostatic intolerance symptoms in patients with joint hypermobility or Ehlers-Danlos syndrome than in healthy controls, and a significantly higher prevalence of cardiovascular and autonomic abnormalities both at rest and during orthostatic challenge. Postural tachycardia syndrome is the most commonly recognized circulatory disorder. The severity of orthostatic symptoms in those with EDS correlates with impairments in quality of life. There is a strong association between several forms of cardiovascular dysfunction, most notably postural tachycardia syndrome, and joint hypermobility or Ehlers-Danlos syndrome. We propose that recognition of joint hypermobility and Ehlers-Danlos syndrome among those with orthostatic intolerance syndromes has the potential to improve clinical care and the validity of research findings. Copyright © 2018 Elsevier B.V. All rights reserved.

Gardner's syndrome

International Nuclear Information System (INIS)

Sobrado Junior, C.W.; Bresser, A.; Cerri, G.G.; Habr-Gama, A.; Pinotti, H.W.; Magalhaes, A.

1988-01-01

A case of familiar poliposis of colon related to a right mandibular osteoma is reported (this association is usually called Gardner's syndrome). Radiologic pictures ae shown and some commentaries about this syndrome concerning the treatment are made. (author) [pt

Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome.

Science.gov (United States)

Busa, Tiffany; Jeraiby, Mohammed; Clémenson, Alix; Manouvrier, Sylvie; Granados, Viviana; Philip, Nicole; Touraine, Renaud

2017-11-01

CHAND syndrome is an autosomal recessive disorder characterized by curly hair, ankyloblepharon, and nail dysplasia. Only few patients were reported to date. A homozygous RIPK4 mutation was recently identified by homozygosity mapping and whole exome sequencing in three patients from an expanded consanguineous kindred with a clinical diagnosis of CHAND syndrome. RIPK4 was previously known to be implicated in Bartsocas-Papas syndrome, the autosomal recessive form of popliteal pterygium syndrome. We report here two cases of RIPK4 homozygous mutations in a fetus with severe Bartsocas-Papas syndrome and a patient with CHAND syndrome. The patient with CHAND syndrome harbored the same mutation as the one identified in the family previously reported. We thus confirm the implication of RIPK4 gene in CHAND syndrome in addition to Bartsocas-Papas syndrome and discuss genotype/phenotype correlations. © 2017 Wiley Periodicals, Inc.

Drug treatment of metabolic syndrome.

Science.gov (United States)

Altabas, Velimir

2013-08-01

The metabolic syndrome is a constellation of risk factors for cardiovascular diseases including: abdominal obesity, a decreased ability to metabolize glucose (increased blood glucose levels and/or presence of insulin resistance), dyslipidemia, and hypertension. Patients who have developed this syndrome have been shown to be at an increased risk of developing cardiovascular disease and/or type 2 diabetes. Genetic factors and the environment both are important in the development of the metabolic syndrome, influencing all single components of this syndrome. The goals of therapy are to treat the underlying cause of the syndrome, to reduce morbidity, and to prevent complications, including premature death. Lifestyle modification is the preferred first-step treatment of the metabolic syndrome. There is no single effective drug treatment affecting all components of the syndrome equally known yet. However, each component of metabolic syndrome has independent goals to be achieved, so miscellaneous types of drugs are used in the treatment of this syndrome, including weight losing drugs, antidiabetics, antihypertensives, antilipemic and anticlothing drugs etc. This article provides a brief insight into contemporary drug treatment of components the metabolic syndrome.

Numerical Magnitude Processing Impairments in Genetic Syndromes: A Cross-Syndrome Comparison of Turner and 22Q11.2 Deletion Syndromes

Science.gov (United States)

Brankaer, Carmen; Ghesquière, Pol; De Wel, Anke; Swillen, Ann; De Smedt, Bert

2017-01-01

Cross-syndrome comparisons offer an important window onto understanding heterogeneity in mathematical learning disabilities or dyscalculia. The present study therefore investigated symbolic numerical magnitude processing in two genetic syndromes that are both characterized by mathematical learning disabilities: Turner syndrome and 22q11.2 deletion…

Neonatal bartter syndrome

International Nuclear Information System (INIS)

Parkash, J.; Salat, S. M.; Khan, I.A.

2006-01-01

A pre-term baby girl was born following a pregnancy complicated by severe polyhydramnios at a gestational age of 36 weeks. She was initially suffering from respiratory distress consistent with idiopathic respiratory distress syndrome, and altered electrolyte imbalance with hyponatremia, hypokalemia and hypochloremic metabolic alkalosis. However, during the third week of life when she had dehydration along with significant electrolyte imbalance, Bartter's syndrome was considered which was supported by findings of high renin and aldosterone levels. Treatment was done by correction of electrolytes and dehydration along with indomethacin. The drug was well tolerated. The infant showed correction of electrolyte imbalance. The features of this case suggest an extreme form of Bartter's syndrome presenting from the early days of life. The syndrome is reported because of it's rarity and alerts pediatricians to the antenatal and neonatal variant of Bartter's syndrome. (author)

Kallmann syndrome and ichthyosis: a case of contiguous gene deletion syndrome

Directory of Open Access Journals (Sweden)

Irene Berges-Raso

2017-09-01

Full Text Available Kallmann syndrome is a genetically heterogeneous form of hypogonadotropic hypogonadism caused by gonadotropin-releasing hormone deficiency and characterized by anosmia or hyposmia due to hypoplasia of the olfactory bulbs; osteoporosis and metabolic syndrome can develop due to longstanding untreated hypogonadism. Kallmann syndrome affects 1 in 10 000 men and 1 in 50 000 women. Defects in 17 genes, including KAL1, have been implicated. Kallmann syndrome can be associated with X-linked ichthyosis, a skin disorder characterized by early onset dark, dry, irregular scales affecting the limb and trunk, caused by a defect of the steroid sulfatase gene (STS. Both KAL1 and STS are located in the Xp22.3 region; therefore, deletions in this region cause a contiguous gene syndrome. We report the case of a 32-year-old man with ichthyosis referred for evaluation of excessive height (2.07 m and weight (BMI: 29.6 kg/m2, microgenitalia and absence of secondary sex characteristics. We diagnosed Kallmann syndrome with ichthyosis due to a deletion in Xp22.3, a rare phenomenon.

Neonatal respiratory distress syndrome

Science.gov (United States)

Hyaline membrane disease (HMD); Infant respiratory distress syndrome; Respiratory distress syndrome in infants; RDS - infants ... improves slowly after that. Some infants with severe respiratory distress syndrome will die. This most often occurs ...

Dress syndrome with sepsis, acute respiratory distress syndrome and pneumomediastinum

Directory of Open Access Journals (Sweden)

Prabhas Prasun Giri

2011-01-01

Full Text Available Drug rash with eosinophilia and systemic symptoms (DRESS syndrome reflects a serious hypersensitivity reaction to drugs, and is characterized by skin rash, fever, lymph node enlargement, and internal organ involvement. So far, numerous drugs such as sulfonamides, phenobarbital, sulfasalazine, carbamazepine, and phenytoin have been reported to cause DRESS syndrome. We report a case of a 10-year-old girl who developed clinical manifestations of fever, rash, lymphadenopathy, hypereosinophilia, and visceral involvement (hepatitis and pneumonitis after taking phenobarbital for seizures, with subsequent development of sepsis, acute respiratory distress syndrome (ARDS and spontaneous air leak syndrome (pnemothorax and pneumomediastinum. She was put on steroids and various antibiotics and was ventilated, but ultimately succumbed to sepsis and pulmonary complications.

MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity Syndrome

Directory of Open Access Journals (Sweden)

Sheetal Sharda

2011-01-01

Full Text Available There are multiple genetic disorders with known or unknown etiology grouped under obesity syndromes. Inspite of having multisystem involvement and often having a characteristic presentation, the understanding of the genetic causes in the majority of these syndromes is still lacking. The common obesity syndromes are Bardet-Biedl, Prader-Willi, Alstrom, Albright's hereditary osteodystrophy, Carpenter, Rubinstein-Taybi, Fragile X, and Börjeson-Forssman-Lehman syndrome. The list is ever increasing as new syndromes are being added to it. One of the recent additions is MOMO syndrome, with about five such cases being reported in literature. Expanding the spectrum of clinical features, we report the first case of MOMO syndrome from India with lobar variant of holoprosencephaly and cryptorchidism, which have not been reported previously.

Duane retraction syndrome type 1 with Usher syndrome type 2: an unreported association.

Science.gov (United States)

Khurana, Bhawna Piplani; Khurana, Aruj Kumar; Grover, Sumit

2015-05-07

Duane retraction syndrome is characterized by globe retraction and palpebral fissure narrowing on adduction, with restriction of abduction, adduction, or both. Usher syndrome type 2 consists of congenital bilateral sensorineural hearing loss and retinitis pigmentosa. The authors present a case with a yet unreported association between Duane retraction syndrome type 1 and Usher syndrome type 2. Copyright 2015, SLACK Incorporated.

Rare case of nephrotic syndrome: Schimke syndrome.

Science.gov (United States)

Pedrosa, Anna Kelly Krislane de Vasconcelos; Torres, Luiz Fernando Oliveira; Silva, Ana Corina Brainer Amorim da; Dantas, Adrianna Barros Leal; Zuntini, Káthia Liliane da Cunha Ribeiro; Aguiar, Lia Cordeiro Bastos

2016-01-01

Schimke syndrome corresponds to dysplasia of bone and immunity, associated with progressive renal disease secondary to nephrotic syndrome cortico-resistant, with possible other abnormalities such as hypothyroidism and blond marrow aplasia. It is a rare genetic disorder, with few reports in the literature. The most frequent renal involvement is nephrotic syndrome with focal segmental glomerulosclerosis and progressive renal failure. The objective of this study was to report a case of Schimke syndrome, diagnostic investigation and management of the case. Resumo A síndrome Schimke corresponde à displasia imuno-óssea, associada à doença renal progressiva secundária à síndrome nefrótica córtico-resistente, podendo haver outras anormalidades como hipotireoidismo e aplasia de medula óssea. Trata-se de uma patologia genética rara, com poucos relatos na literatura. O acometimento renal mais frequente é uma síndrome nefrótica por glomeruloesclerose segmentar e focal e falência renal progressiva. O objetivo deste estudo foi relatar um caso de síndrome de Schimke, investigação diagnóstica e condução do caso.

Gorlin-goltz syndrome

International Nuclear Information System (INIS)

Ahmed, N.; Salman, M.; Mansoor, M.A.

2007-01-01

Multiple jaw cysts are a characteristic manifestation of basal cell nevus (Gorlin) syndrome. Gorlin-Goltz syndrome is characterized by symptoms primarily involving the skin, central nervous system, and skeletal system. In 90% of the patients, nevoid basal cell carcinoma syndrome is associated with recurring odontogenic keratocysts. This patient showed recurrent jaw and maxillary cysts, for which he was followed for 2 years. (author)

Cardio-renal syndrome

OpenAIRE

Gnanaraj, Joseph; Radhakrishnan, Jai

2016-01-01

Cardio-renal syndrome is a commonly encountered problem in clinical practice. Its pathogenesis is not fully understood. The purpose of this article is to highlight the interaction between the cardiovascular system and the renal system and how their interaction results in the complex syndrome of cardio-renal dysfunction. Additionally, we outline the available therapeutic strategies to manage this complex syndrome.

INVESTIGATION OF DYSENTERY (1)

African Journals Online (AJOL)

On 12 December 2008, several cases of bloody diarrhoea visited Jimma University. Specialized ... factory. Therefore, screening of food handlers need to be conducted in a regular manner. ... Despite the risk, epidemiological studies regarding ...

Tourette Syndrome

Science.gov (United States)

If you have Tourette syndrome, you make unusual movements or sounds, called tics. You have little or no control over them. Common tics are throat- ... spin, or, rarely, blurt out swear words. Tourette syndrome is a disorder of the nervous system. It ...

Lemierre's syndrome

DEFF Research Database (Denmark)

Johannesen, Katrine; Bødtger, Uffe; Heltberg, Ole

2014-01-01

Lemierre's syndrome is an often un-diagnosed disease seen in previously healthy young subjects, presenting with symptoms of pharyngitis, fever and elevated markers of inflammation. The syndrome is characterised by infectious thrombosis of the jugular vein due to infection with Fusobacteria, causing...

Sleep overlap syndrome

Directory of Open Access Journals (Sweden)

Fariba Rezaeetalab

2016-12-01

Full Text Available Overlap syndrome, which is known as the coexistence of chronic obstructive pulmonary disease (COPD and obstructive sleep apnea (OSA, was first defined by Flenley. Although it can refer to concomitant occurrence of any of the pulmonary diseases and OSA, overlap syndrome is commonly considered as the coexistence of OSA and COPD. This disease has unique adverse health consequences distinct from either condition alone. Given the high prevalence of each solitary disease, overlap syndrome is also likely to be common and clinically relevant. Despite the fact that overlap syndrome has been described in the literature for nearly 30 years, paucity of evaluations and studies limited the discussion on diagnosis, prevalence, pathophysiology, treatment, and outcomes of this disease. This review article addresses these issues by reviewing several recent studies conducted in Iran or other countries. This review suggests that overlap syndrome has worse outcomes than either disease alone. Our findings accentuated the urgent need for further studies on overlap syndrome and all overlaps between OSA and chronic pulmonary disease to provide a deeper insight into diagnosis and non-invasive treatments of this disease.

What Causes Cushing's Syndrome?

Science.gov (United States)

... Share Facebook Twitter Pinterest Email Print What causes Cushing syndrome? Cushing syndrome can develop for two reasons: Medication ... uhs ), thyroid, or thymus How Tumors Can Cause Cushing Syndrome Normally, the pituitary gland in the brain controls ...

[The refeeding syndrome].

Science.gov (United States)

Lambers, Wietske M; Kraaijenbrink, Bastiaan; Siegert, Carl E H

2015-01-01

The refeeding syndrome may occur during reintroduction of carbohydrates in malnourished patients. This syndrome is characterized by reduced plasma electrolyte levels, hypophosphataemia being most prevalent. The symptoms can vary from minor symptoms to severe neurological or cardiac symptoms. The pathophysiological mechanism comprises an increase in insulin levels, resulting in shifts of phosphate, potassium and magnesium into the intracellular environment, as well as fluid retention and relative deficiency of vitamin B1. There is growing interest in the screening and treatment of patients with malnutrition, due to which the incidence of refeeding syndrome is probably increasing. Currently, there is no single definition of this syndrome and therefore there is no solid scientific basis for screening and treatment. In this article we describe the rationale for screening and additional laboratory investigations. A prospective, controlled trial is important to define the clinical relevance of the refeeding syndrome and optimize its treatment.

Subclinical nephritic syndrome in children cohabiting with pediatric patients, Presenting acute nephritic syndrome

OpenAIRE

Guerrero-Tinoco Gustavo Adolfo; Julio-Barrios Emil

2012-01-01

Introduction: subclinical nephritic syndrome is the presence of hematuria, hypocomplementemiaand/or proteinuria without the presence of signs and/or symptoms.Objective: to determine the incidence of subclinical nephritic syndrome in childrenliving with pediatric patients diagnosed with acute nephritic syndrome.Methods: family visit to identify children living together in the two previous months, with pediatric patients hospitalized with acute nephritic syndrome, at Hospital InfantilNapoleon F...

Relationships among personality traits, metabolic syndrome, and metabolic syndrome scores: The Kakegawa cohort study.

Science.gov (United States)

Ohseto, Hisashi; Ishikuro, Mami; Kikuya, Masahiro; Obara, Taku; Igarashi, Yuko; Takahashi, Satomi; Kikuchi, Daisuke; Shigihara, Michiko; Yamanaka, Chizuru; Miyashita, Masako; Mizuno, Satoshi; Nagai, Masato; Matsubara, Hiroko; Sato, Yuki; Metoki, Hirohito; Tachibana, Hirofumi; Maeda-Yamamoto, Mari; Kuriyama, Shinichi

2018-04-01

Metabolic syndrome and the presence of metabolic syndrome components are risk factors for cardiovascular disease (CVD). However, the association between personality traits and metabolic syndrome remains controversial, and few studies have been conducted in East Asian populations. We measured personality traits using the Japanese version of the Eysenck Personality Questionnaire (Revised Short Form) and five metabolic syndrome components-elevated waist circumference, elevated triglycerides, reduced high-density lipoprotein cholesterol, elevated blood pressure, and elevated fasting glucose-in 1322 participants aged 51.1±12.7years old from Kakegawa city, Japan. Metabolic syndrome score (MS score) was defined as the number of metabolic syndrome components present, and metabolic syndrome as having the MS score of 3 or higher. We performed multiple logistic regression analyses to examine the relationship between personality traits and metabolic syndrome components and multiple regression analyses to examine the relationship between personality traits and MS scores adjusted for age, sex, education, income, smoking status, alcohol use, and family history of CVD and diabetes mellitus. We also examine the relationship between personality traits and metabolic syndrome presence by multiple logistic regression analyses. "Extraversion" scores were higher in those with metabolic syndrome components (elevated waist circumference: P=0.001; elevated triglycerides: P=0.01; elevated blood pressure: P=0.004; elevated fasting glucose: P=0.002). "Extraversion" was associated with the MS score (coefficient=0.12, P=0.0003). No personality trait was significantly associated with the presence of metabolic syndrome. Higher "extraversion" scores were related to higher MS scores, but no personality trait was significantly associated with the presence of metabolic syndrome. Copyright © 2018 Elsevier Inc. All rights reserved.

SNEDDON’S SYNDROME

Directory of Open Access Journals (Sweden)

Valentin Valtchev

2008-10-01

Full Text Available Sneddon’s syndrome is usually characterized by the association of an ischemic cerebrovascular disease and a widespread livedo reticularis. The incidence of Sneddon syndrome is 4/1000 000. We present 42-year-old woman with livedo reticularis, recurrence ischaemic cerebrovascular accidents, two repetitive miscarriages and positive anti-2GPi antibodies. Skin biopsy specimens reveal inflammatory changes of small- to medium-sized arteries and subendothelial proliferation and fibrosis. The diagnosis Sneddon syndrome is confirmed by skin biopsy, and MR evidence. We suggest that anti-2GPi antibodies may be pathophysiologically related to the clinical manifestation observed in some patients with Sneddon syndrome.

Sjogren′s Syndrome: A Review

Directory of Open Access Journals (Sweden)

Rani Somani

2011-01-01

Full Text Available Sjogren′s syndrome, also known as "Mikulicz disease" or "Sicca syndrome" is a systemic autoimmune disease in which immune cells attack and destroy the exocrine glands that produce tears and saliva. It can exist by itself (primary Sjogren syndrome or develop in association with another disorder such as rheumatoid arthritis, systemic sclerosis, primary biliary cirrhosis or Hashimoto thyroiditis (associated Sjogren syndrome. Hallmarks are the dry mouth and dry eyes known as the Sicca syndrome. Sjogren syndrome affects t million to 4 million people in the United States- Most are over 40 years old at the time of diagnosis. As there is no known cure for Sjogren syndrome, treatment focuses on relieving symptoms and preventing complications. The most serious complication associated with primary Sjogren syndrome is the development of a lymphoproliferative disease. primarily non-Hodgkin lymphoma.

The ``eco-syndrome`` and what causes it; Das Oeko-Syndrom`` und seine Ausloeser

Energy Technology Data Exchange (ETDEWEB)

Voack, C. [Technische Univ. Muenchen (Germany). Klinik und Poliklinik fuer Dermatolologie und Allergologie; Borelli, S. [Technische Univ. Muenchen (Germany). Klinik und Poliklinik fuer Dermatolologie und Allergologie; Ring, J. [Technische Univ. Muenchen (Germany). Klinik und Poliklinik fuer Dermatolologie und Allergologie

1997-01-24

Headache, tiredness, skin irritation etc. may be the results of adverse effects on health due to toxic substances in residential buildings and at workplaces. Possible causes of syndromes that are hard to objectify but associated with serious afflictions such as the ``eco-syndrome`` or Multiple Chemical Sensitivity (MCS) and the Sick Building Syndrome (SBS) are listed. (VHE) [Deutsch] Bei Kopfschmerzen, Muedigkeit, Hautirritationen u.ae. besteht die Moeglichkeit einer gesundheitlichen Beeintraechtigung durch Schadstoff im Wohn- oder Arbeitsbereich. Moegliche Ausloeser fuer schwer objektivierbare, aber mit hohem Leidensdruck verbundene Krankheitsbilder wie Oeko-Syndrom(Multiple Chemical Sensivity, MCS) und SBS (Sick-Building-Syndrom) werden aufgelistet. (VHE)

[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.

The association between the metabolic syndrome and metabolic syndrome score and pulmonary function in non-smoking adults.

Science.gov (United States)

Yoon, Hyun; Gi, Mi Young; Cha, Ju Ae; Yoo, Chan Uk; Park, Sang Muk

2018-03-01

This study assessed the association of metabolic syndrome and metabolic syndrome score with the predicted forced vital capacity and predicted forced expiratory volume in 1 s (predicted forced expiratory volume in 1 s) values in Korean non-smoking adults. We analysed data obtained from 6684 adults during the 2013-2015 Korean National Health and Nutrition Examination Survey. After adjustment for related variables, metabolic syndrome ( p metabolic syndrome score ( p metabolic syndrome score with metabolic syndrome score 0 as a reference group showed no significance for metabolic syndrome score 1 [1.061 (95% confidence interval, 0.755-1.490)] and metabolic syndrome score 2 [1.247 (95% confidence interval, 0.890-1.747)], but showed significant for metabolic syndrome score 3 [1.433 (95% confidence interval, 1.010-2.033)] and metabolic syndrome score ⩾ 4 [1.760 (95% confidence interval, 1.216-2.550)]. In addition, the odds ratio of restrictive pulmonary disease of the metabolic syndrome [1.360 (95% confidence interval, 1.118-1.655)] was significantly higher than those of non-metabolic syndrome. Metabolic syndrome and metabolic syndrome score were inversely associated with the predicted forced vital capacity and forced expiratory volume in 1 s values in Korean non-smoking adults. In addition, metabolic syndrome and metabolic syndrome score were positively associated with the restrictive pulmonary disease.

Cross Syndrome Comparison of Sleep Problems in Children with Down Syndrome and Williams Syndrome

Science.gov (United States)

Ashworth, Anna; Hill, Catherine M.; Karmiloff-Smith, Annette; Dimitriou, Dagmara

2013-01-01

Based on previous findings of frequent sleep problems in children with Down syndrome (DS) and Williams syndrome (WS), the present study aimed to expand our knowledge by using parent report and actigraphy to define sleep problems more precisely in these groups. Twenty-two school-aged children with DS, 24 with WS and 52 typically developing (TD)…

Goldenhar syndrome

Directory of Open Access Journals (Sweden)

Neeraj Sharma

2013-01-01

Full Text Available Goldenhar syndrome is a syndrome of complex structures developing from first and second branchial arches during blastogenesis. The etiology of this rare disease is not fully understood, as it has shown itself variable genetically and of unclear causes. The disorder is characterized by a wide spectrum of symptoms and physical features that may vary greatly in range and severity from case to case. Here we present a unique case of Goldenhar syndrome with absence of left condyle, hypoplasia of the zygomatic bone, no pneumatization of the mastoid process, underdeveloped mandible, bifid tongue and the skin tags in the preauricular area.

[Neurobiology of Tourette Syndrome].

Science.gov (United States)

Ünal, Dilek; Akdemir, Devrim

2016-01-01

Tourette Syndrome (TS) is a neurodevelopmental disorder characterized by chronic motor and vocal tics. Although it is a common disorder in childhood, the etiology of Tourette Syndrome has not been fully elucidated yet. Studies, -conducted so far- have revealed differences in neurobiological structures of individuals who suffer from Tourette Syndrome. The objective of this review is to assess etiological and pathophysiological studies in the Tourette Syndrome literature. An electronical search was conducted in PubMed database using the keywords tic disorders, Tourette Syndrome, neurobiology, genetics, neuroimaging and animal models. Research and review studies published between 1985 and 2015, with a selection preference towards recent publications, were reviewed. According to the studies, genetic predisposition hypothesis is considered as a priority. However, a precise genetic disorder associated with Tourette Syndrome has not been found. The evidence from postmortem and neuroimaging studies in heterogenous patient groups and animal studies supports the pathological involvement of cortico-striato-thalamo-cortical (CSTC) circuits in Tourette Syndrome. Consequently, the most emphasized hypothesis in the pathophysiology is the dopaminergic dysfunction in these circuits. Furthermore, these findings of the animal, postmortem and neuroimaging studies have confirmed the neurodevelopmental hypothesis of Tourette Syndrome. In conclusion, more studies are needed to understand the etiology of the disorder. The data obtained from neurobiological studies of the disorder will not only shed light on the way of Tourette Syndrome, but also guide studies on its treatment options.

Genetics Home Reference: Gorlin syndrome

Science.gov (United States)

... for This Condition basal cell nevus syndrome BCNS Gorlin-Goltz syndrome NBCCS nevoid basal cell carcinoma syndrome Related Information ... named? Additional Information & Resources MedlinePlus (2 links) Encyclopedia: Basal Cell Nevus Syndrome Health Topic: Skin Cancer Genetic and Rare Diseases ...

Genetics Home Reference: Rett syndrome

Science.gov (United States)

... Genetic Testing Registry: Rett syndrome Other Diagnosis and Management Resources (4 links) Boston Children's Hospital GeneReview: MECP2-Related Disorders MedlinePlus Encyclopedia: Rett Syndrome RettSyndrome.org: Rett Syndrome Clinics General Information from MedlinePlus (5 links) Diagnostic Tests ...

[Menopause and metabolic syndrome].

Science.gov (United States)

Meirelles, Ricardo M R

2014-03-01

The incidence of cardiovascular disease increases considerably after the menopause. One reason for the increased cardiovascular risk seems to be determined by metabolic syndrome, in which all components (visceral obesity, dyslipidemia, hypertension, and glucose metabolism disorder) are associated with higher incidence of coronary artery disease. After menopause, metabolic syndrome is more prevalent than in premenopausal women, and may plays an important role in the occurrence of myocardial infarction and other atherosclerotic and cardiovascular morbidities. Obesity, an essential component of the metabolic syndrome, is also associated with increased incidence of breast, endometrial, bowel, esophagus, and kidney cancer. The treatment of metabolic syndrome is based on the change in lifestyle and, when necessary, the use of medication directed to its components. In the presence of symptoms of the climacteric syndrome, hormonal therapy, when indicated, will also contribute to the improvement of the metabolic syndrome.

Pathway of oxfendazole from the host into the worm

DEFF Research Database (Denmark)

Hansen, Tina V A; Williams, Andrew R; Denwood, Matthew

2017-01-01

It is well known that the efficacy of a single oral dose of benzimidazoles against Trichuris spp. infections in humans and animals is poor, but is currently still used in control programmes against human trichuriasis. However, the route of the benzimidazoles from the treated host to Trichuris...

DRESS syndrome with thrombotic microangiopathy revealing a Noonan syndrome

Science.gov (United States)

Bobot, Mickaël; Coen, Matteo; Simon, Clémentine; Daniel, Laurent; Habib, Gilbert; Serratrice, Jacques

2018-01-01

Abstract Rationale: The life-threatening drug rash with eosinophilia and systemic symptoms (DRESS) syndrome occurs most commonly after exposure to drugs, clinical features mimic those found with other serious systemic disorders. It is rarely associated with thrombotic microangiopathy. Patient concerns: We describe the unique case of a 44-year-old man who simultaneously experienced DRESS syndrome with thrombotic microangiopathy (TMA) after a 5 days treatment with fluindione. Diagnoses: Clinical evaluation leads to the discovery of an underlying lymphangiomatosis, due to a Noonan syndrome. Intervetions: The anticoagulant was withdrawn, and corticosteroids (1 mg/kg/day) and acenocoumarol were started. Outcomes: Clinical improvement ensued. At follow-up the patient is well. Lessons: The association of DRESS with TMA is a rare condition; we believe that the presence of the underlying Noonan syndrome could have been the trigger. Moreover, we speculate about the potential interrelations between these entities. PMID:29642153

A Cross-Syndrome Study of the Development of Holistic Face Recognition in Children with Autism, Down Syndrome, and Williams Syndrome

Science.gov (United States)

Annaz, Dagmara; Karmiloff-Smith, Annette; Johnson, Mark H.; Thomas, Michael S. C.

2009-01-01

We report a cross-syndrome comparison of the development of holistic processing in face recognition in school-aged children with developmental disorders: autism, Down syndrome, and Williams syndrome. The autism group was split into two groups: one with high-functioning children and one with low-functioning children. The latter group has rarely…

Clinical update on metabolic syndrome

Directory of Open Access Journals (Sweden)

Juan Diego Hernández-Camacho

2017-12-01

Full Text Available Metabolic syndrome has been defined as a global issue since it affects a lot of people. Numerous factors are involved in metabolic syndrome development. It has been described that metabolic syndrome has negative consequences on health. Consequently, a lot of treatments have been proposed to palliate it such as drugs, surgery or life style changes where nutritional habits have shown to be an important point in its management. The current study reviews the literature existing about the actual epidemiology of metabolic syndrome, the components involucrate in its appearance and progression, the clinical consequences of metabolic syndrome and the nutritional strategies reported in its remission. A bibliographic search in PubMed and Medline was performed to identify eligible studies. Authors obtained that metabolic syndrome is present in population from developed and undeveloped areas in a huge scale. Environmental and genetic elements are involucrate in metabolic syndrome development. Metabolic syndrome exponentially increased risk of cardiovascular disease, some types of cancers, diabetes mellitus type 2, sleep disturbances, etc. Nutritional treatments play a crucial role in metabolic syndrome prevention, treatment and recovery.

Genetics Home Reference: Tourette syndrome

Science.gov (United States)

... and Vocal Tic Disorder Gilles de la Tourette Syndrome Gilles de la Tourette's syndrome GTS TD Tourette Disorder Tourette's Disease TS Related ... Additional Information & Resources MedlinePlus (2 links) Encyclopedia: Gilles de la Tourette syndrome Health Topic: Tourette Syndrome Genetic and Rare Diseases ...

Comparison of metabolic syndrome with growing epidemic syndrome Z in terms of risk factors and gender differences.

Science.gov (United States)

Uyar, Meral; Davutoğlu, Vedat; Aydın, Neriman; Filiz, Ayten

2013-05-01

The aim of this study is to compare metabolic syndrome with syndrome Z growing epidemic in terms of risk factors, demographic variables, and gender differences in our large cohort at southeastern area in Turkey. Data of patients admitted to sleep clinic in University of Gaziantep from January 2006 to January 2011 were retrospectively evaluated. ATP III and JNC 7 were used for defining metabolic syndrome and hypertension. Data of 761 patients were evaluated. Hypertension, diabetes mellitus, coronary artery disease, pulmonary hypertension, and left ventricular hypertrophy were more common in patients with syndrome Z than in patients without metabolic syndrome. Age, waist/neck circumferences, BMI, triglyceride, glucose, and Epworth sleepiness scale score were detected higher, whereas the minimum oxygen saturation during sleep was lower in patients with syndrome Z. Metabolic syndrome was more common in sleep apneic subjects than in controls (58 versus 30 %). Female sleep apneics showed higher rate of metabolic syndrome than those of males (74 versus 52 %). Hypertension, diabetes mellitus, coronary artery disease, and left ventricular hypertrophy were detected higher in males with syndrome Z than in males without metabolic syndrome. Snoring and excessive daytime sleepiness were detected higher in females with syndrome Z than in females without metabolic syndrome. Systemic/pulmonary hypertension, diabetes mellitus, and left ventricular hypertrophy were more common in females with syndrome Z than in females without metabolic syndrome. Complaints of headache and systemic/pulmonary hypertension were more common among females than males with syndrome Z. Female syndrome Z patients had lower minimum oxygen saturation than male patients with syndrome Z. Metabolic syndrome in sleep apneic patients is more prevalent than in controls. All metabolic syndrome parameters were significantly different among obstructive sleep apneic patients with respect to gender with more severe

Facts about Down Syndrome

Science.gov (United States)

... monitor children with Down syndrome for these conditions. Treatments Down syndrome is a lifelong condition. Services early in life ... of these services focus on helping children with Down syndrome develop to their ... therapy, and they are typically offered through early intervention ...

LEOPARD-syndrom

DEFF Research Database (Denmark)

Hansen, Lars Kjaersgård; Risby, Kirsten; Bygum, Anette

2009-01-01

We describe a 12-year-old boy with a typical phenotype of the LEOPARD syndrome (LS). The diagnosis was confirmed in the boy and his mother, who both had a mutation in the PTPN11 gene at Thr468Met (c.1403C > T). Several other members of the maternal family are suspected also to have the LEOPARD sy...... syndrome. We discuss the clinical characteristics of LS, the need for follow-up and genetic counselling, and the molecular-genetic background as well as the relationship to the allelic disease Noonan syndrome. Udgivelsesdato: 2009-Jan-26......We describe a 12-year-old boy with a typical phenotype of the LEOPARD syndrome (LS). The diagnosis was confirmed in the boy and his mother, who both had a mutation in the PTPN11 gene at Thr468Met (c.1403C > T). Several other members of the maternal family are suspected also to have the LEOPARD...

[Refeeding syndrome].

Science.gov (United States)

Ševela, Stanislav; Novák, František; Kazda, Antonín; Brodská, Helena

Despite being known more than 60 years, refeeding syndrome (RS) still bears many uncertainties. For example, its definition is not clear and definite, and the attitude to it varies from the complete neglect to over-prevention.The term "refeeding syndrome" refers to electrolyte and metabolic changes occurring in malnourished patients after the readministration of nutrition. These changes concern especially to phosphates and ions. Potassium, magnesium, naturism and fluids balance are involved. The changes lead to cell energetic metabolism and electric potential disturbances, with related clinical symptoms.Fully developed refeeding syndrome is quite rare; nevertheless it can be fatal for the patient. However, even its development can lead to many complications increasing the patient's morbidity and the length of stay in the hospital. Yet the refeeding syndrome is more or less predictable and if kept in mind also preventable.The aim of this article is to get the reader to know more about this metabolic phenomenon and possible attitudes towards it.

Efficacy of syndromic management measured as symptomatic improvement in females with vaginal discharge syndrome.

Science.gov (United States)

Chauhan, Vidyalaxmi; Shah, Maitri C; Patel, Sangita V; Marfatia, Yogesh S; Zalavadiya, Dhara

2016-01-01

In spite of a few shortcomings such as over diagnosis and over treatment, syndromic management is a recommended practice in India for sexually transmitted infections (STIs). This study tries to find out the efficacy of syndromic management measured as symptomatic improvement in females with vaginal discharge syndrome. The objective of the study is to find out the effectiveness of syndromic management in terms of symptomatic improvement among females with vaginal discharge syndrome. A longitudinal study was conducted in Gynecology Department of Tertiary Care Hospital including 180 symptomatic females having vaginal discharge syndrome. Demographic profile, presenting complaints, menstrual history, obstetric history, partner history, and contraceptive history were noted. This was followed by clinical examination and specimen collection for laboratory tests and blood tests to find out type of STI including viral STI such as human immunodeficiency virus (HIV), herpes simplex virus (HSV), and hepatitis B surface antigen (HBsAg). Treatment was given according to syndromic management on the same day. All the participants were asked to come for follow-up after 15 days and their improvement in symptoms was noted as complete improvement, some improvement or no improvement on a five point scale. 63.9% cases showed complete improvement, while 36.1% showed some improvement. None of the patients was without any improvement. Vaginal discharge syndrome was most common between 20 and 30 years (43.4%), and 67.8% of symptomatic females with vaginal discharge syndrome belonged to the lower socioeconomic group. HSV infection was the most common (15%) associated viral infection with vaginal discharge syndrome, while hepatitis B infection was the least common (0.5%). HIV was reactive in 2.8% cases only. Syndromic management was found to be effective in relieving symptoms in most of the cases of vaginal discharge syndrome.

Congenital nephrotic syndrome

Directory of Open Access Journals (Sweden)

Claudia Fanni

2014-06-01

Full Text Available CNS (Congenital nephrotic syndrome is a disorder characterized by the presence of a nephrotic syndrome in the first three months of life. Different pathologies can cause this syndrome. In general, we can distinguish primary forms (sporadic and hereditary and secondary forms (acquired and associated with other syndromes. The most common form is the Finnish CNS (CNF, congenital nephrotic syndrome of the Finnish type, a hereditary form whose name derives from the fact that the highest incidence is described in that country (1.2:10,000. The pathogenesis, the clinical picture, the diagnostic criteria, the therapy and the outcome are described in details.  Proceedings of the International Course on Perinatal Pathology (part of the 10th International Workshop on Neonatology · October 22nd-25th, 2014 · Cagliari (Italy · October 25th, 2014 · The role of the clinical pathological dialogue in problem solving Guest Editors: Gavino Faa, Vassilios Fanos, Peter Van Eyken

Late-Onset Nephrotic Syndrome in Galloway-Mowat Syndrome: A Case Report

Directory of Open Access Journals (Sweden)

Hazza Issa

1999-01-01

Full Text Available Galloway-Mowat Syndrome (GMS has a wide variety of clinical manifestations and histologic findings. All reported cases had developed nephrotic syndrome in the first two years of life. We report a case of 12 years old boy with microcephaly, mental retardation, and typical dysmorphic features of GMS with a late onset of minimal change nephritic syndrome which first manifested at seven years of age.

Prune belly syndrome in an Egyptian infant with Down syndrome: A case report

Directory of Open Access Journals (Sweden)

Metwalley Kotb A

2008-10-01

Full Text Available Abstract Introduction Prune belly syndrome is a rare congenital anomaly of uncertain aetiology almost exclusive to males. The association between prune belly syndrome and Down syndrome is very rare. Case presentation A 4-month-old Egyptian boy was admitted to our institute for management of acute bronchiolitis. He was born at full term by normal vaginal delivery. His mother, a 42-year-Egyptian villager with six other children, had no antenatal or prenatal care. On examination, the boy was found to be hypotonic. In addition to features of Down syndrome, karyotyping confirmed the diagnosis of trisomy 21. Ultrasound examination of the abdomen showed bilateral gross hydronephrosis with megaureter. Micturating cystourethrography showed grade V vesicoureteric reflux bilaterally with no urethral obstruction. Serum creatinine concentration was 90 μmol/litre, serum sodium was 132 mmol/litre and serum potassium was 5.9 mmol/litre. Conclusion We report an Egyptian infant with Down syndrome and prune belly syndrome. The incidence of this association is unknown. Routine antenatal ultrasonography will help in discovering renal anomalies which can be followed postnatally. Postnatal detection of prune belly syndrome necessitates full radiological investigation to detect any renal anomalies. Early diagnosis of this syndrome and determining its optimal treatment are very important in helping to avoid its fatal course.

Prune belly syndrome in an Egyptian infant with Down syndrome: a case report.

Science.gov (United States)

Metwalley, Kotb A; Farghalley, Hekma S; Abd-Elsayed, Alaa A

2008-10-02

Prune belly syndrome is a rare congenital anomaly of uncertain aetiology almost exclusive to males. The association between prune belly syndrome and Down syndrome is very rare. A 4-month-old Egyptian boy was admitted to our institute for management of acute bronchiolitis. He was born at full term by normal vaginal delivery. His mother, a 42-year-Egyptian villager with six other children, had no antenatal or prenatal care. On examination, the boy was found to be hypotonic. In addition to features of Down syndrome, karyotyping confirmed the diagnosis of trisomy 21. Ultrasound examination of the abdomen showed bilateral gross hydronephrosis with megaureter. Micturating cystourethrography showed grade V vesicoureteric reflux bilaterally with no urethral obstruction. Serum creatinine concentration was 90 mumol/litre, serum sodium was 132 mmol/litre and serum potassium was 5.9 mmol/litre. We report an Egyptian infant with Down syndrome and prune belly syndrome. The incidence of this association is unknown. Routine antenatal ultrasonography will help in discovering renal anomalies which can be followed postnatally. Postnatal detection of prune belly syndrome necessitates full radiological investigation to detect any renal anomalies. Early diagnosis of this syndrome and determining its optimal treatment are very important in helping to avoid its fatal course.

Simultaneous Occurrence of Duane Retraction Syndrome with Marfan Syndrome

Directory of Open Access Journals (Sweden)

Mihir Kothari

2011-01-01

Full Text Available Marfan syndrome (MFS is an autosomal dominant disorder of connective tissue, while Duane retraction syndrome (DRS is a congenital cranial dysinnervation disorder (CCDD which can be transmitted as autosomal dominant disorder in 5–10% of patients. In this paper, we present an 8-year-old girl who presented with left eye DRS and bilateral subluxation of the lens associated with MFS in absence of familial involvement. To our knowledge this is the first case report of DRS with MFS. The occurrence of these syndromes together is very rare and appears to be coincidental.

Naumoff short-rib polydactyly syndrome compounded with Mohr oral-facial-digital syndrome

Energy Technology Data Exchange (ETDEWEB)

Young, L.W.; Wilhelm, L.L. [Loma Linda Univ., CA (United States). Medical Center; Zuppan, C.W. [Div. of Pediatric Pathology, Loma Linda University Medical Center, CA (United States); Clark, R. [Div. of Medical Genetics, Loma Linda University Medical Center, CA (United States)

2001-01-01

A stillborn baby boy had findings of severe constitutional dwarfism with short limbs, short ribs, and polydactyly that were consistent with Naumoff (type III) short-rib polydactyly syndrome. He also had additional congenital anomalies, including cleft palate, notching of the upper lip, small tongue with accessory sublingual tissue. These oral and pharyngeal anomalies were consistent with Mohr (type II) oral-facial-digital syndrome. We suggest the stillborn infant represented a compound of Naumoff short-rib polydactyly syndrome (SRPS-III) and Mohr oral-facial-digital syndrome (OFDS-II). (orig.)

The Capgras syndrome in paranoid schizophrenia.

Science.gov (United States)

Silva, J A; Leong, G B

1992-01-01

Capgras syndrome is characterized by a delusion of impostors who are thought to be physically similar but psychologically distinct from the misidentified person. This syndrome is generally thought to be relatively rare. Most of our knowledge about Capgras syndrome derives from single case studies and small series of cases usually from diagnostically heterogeneous groups. In this article, a series of 31 patients suffering from both paranoid schizophrenia and Capgras syndrome is described. Issues pertaining to the phenomenology of Capgras syndrome, the possible relation between Capgras syndrome and other delusional misidentification syndromes, and a neurobiological hypothesis aimed at explaining Capgras syndrome are discussed.

Antimicrobial Susceptibility Patterns of Brachyspira Species Isolated from Swine Herds in the United States

OpenAIRE

Mirajkar, Nandita S.; Davies, Peter R.; Gebhart, Connie J.

2016-01-01

Outbreaks of swine dysentery, caused by Brachyspira hyodysenteriae and the recently discovered “Brachyspira hampsonii,” have reoccurred in North American swine herds since the late 2000s. Additionally, multiple Brachyspira species have been increasingly isolated by North American diagnostic laboratories. In Europe, the reliance on antimicrobial therapy for control of swine dysentery has been followed by reports of antimicrobial resistance over time. The objectives of our study were to determi...

Fahr's Syndrome

Science.gov (United States)

... or 50s, although it can occur at any time in childhood or adolescence. × Definition Fahr's Syndrome is a rare, genetically dominant, inherited ... or 50s, although it can occur at any time in childhood or adolescence. View Full Definition Treatment There is no cure for Fahr's Syndrome, ...

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....

Eagle's Syndrome

Science.gov (United States)

Pinheiro, Thaís Gonçalves; Soares, Vítor Yamashiro Rocha; Ferreira, Denise Bastos Lage; Raymundo, Igor Teixeira; Nascimento, Luiz Augusto; Oliveira, Carlos Augusto Costa Pires de

2013-01-01

Summary Introduction: Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is difficult, and it is generally confounded by other manifestations of cervicopharyngeal pain. Objective: To describe a case of Eagle's syndrome. Case Report: A 53-year-old man reported lateral pain in his neck that had been present for 30 years. Computed tomography (CT) of the neck showed elongation and ossification of the styloid processes of the temporal bone, which was compatible with Eagle's syndrome. Surgery was performed for bilateral resection of the stylohyoid ligament by using a transoral and endoscopic access route. The patient continued to present pain laterally in the neck, predominantly on his left side. CT was performed again, which showed elongation of the styloid processes. The patient then underwent lateral cervicotomy with resection of the stylohyoid process, which partially resolved his painful condition. Final Comments: Patients with Eagle's syndrome generally have a history of chronic pain. Appropriate knowledge of this disease is necessary for adequate treatment to be provided. The importance of diagnosing this uncommon and often unsuspected disease should be emphasized, given that correct clinical-surgical treatment is frequently delayed. The diagnosis of Eagle's syndrome is clinical and radiographic, and the definitive treatment in cases of difficult-to-control pain is surgical. PMID:25992033

Eagle's Syndrome

Directory of Open Access Journals (Sweden)

Pinheiro, Thaís Gonçalves

2014-01-01

Full Text Available Introduction: Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is difficult, and it is generally confounded by other manifestations of cervicopharyngeal pain. Objective: To describe a case of Eagle's syndrome. Case Report: A 53-year-old man reported lateral pain in his neck that had been present for 30 years. Computed tomography (CT of the neck showed elongation and ossification of the styloid processes of the temporal bone, which was compatible with Eagle's syndrome. Surgery was performed for bilateral resection of the stylohyoid ligament by using a transoral and endoscopic access route. The patient continued to present pain laterally in the neck, predominantly on his left side. CT was performed again, which showed elongation of the styloid processes. The patient then underwent lateral cervicotomy with resection of the stylohyoid process, which partially resolved his painful condition. Final Comments: Patients with Eagle's syndrome generally have a history of chronic pain. Appropriate knowledge of this disease is necessary for adequate treatment to be provided. The importance of diagnosing this uncommon and often unsuspected disease should be emphasized, given that correct clinical-surgical treatment is frequently delayed. The diagnosis of Eagle's syndrome is clinical and radiographic, and the definitive treatment in cases of difficult-to-control pain is surgical.

Review of the refeeding syndrome.

Science.gov (United States)

Kraft, Michael D; Btaiche, Imad F; Sacks, Gordon S

2005-12-01

Refeeding syndrome describes a constellation of metabolic disturbances that occur as a result of reinstitution of nutrition to patients who are starved or severely malnourished. Patients can develop fluid and electrolyte disorders, especially hypophosphatemia, along with neurologic, pulmonary, cardiac, neuromuscular, and hematologic complications. We reviewed literature on refeeding syndrome and the associated electrolyte abnormalities, fluid disturbances, and associated complications. In addition to assessing scientific literature, we also considered clinical experience and judgment in developing recommendations for prevention and treatment of refeeding syndrome. The most important steps are to identify patients at risk for developing refeeding syndrome, institute nutrition support cautiously, and correct and supplement electrolyte and vitamin deficiencies to avoid refeeding syndrome. We provide suggestions for the prevention of refeeding syndrome and suggestions for treatment of electrolyte disturbances and complications in patients who develop refeeding syndrome, according to evidence in the literature, the pathophysiology of refeeding syndrome, and clinical experience and judgment.

Heterogeneity in Waardenburg syndrome.

Science.gov (United States)

Hageman, M J; Delleman, J W

1977-01-01

Heterogeneity of Waardenburg syndrome is demonstrated in a review of 1,285 patients from the literature and 34 previously unreported patients in five families in the Netherlands. The syndrome seems to consist of two genetically distinct entities that can be differentiated clinically: type I, Waardenburg syndrome with dystopia canthorum; and type II, Waardenburg syndrome without dystopia canthorum. Both types have an autosomal dominant mode of inheritance. The incidence of bilateral deafness in the two types of the syndrome was found in one-fourth with type I and about half of the patients with type II. This difference has important consequences for genetic counseling. Images Fig. 7 Fig. 8 Fig. 9 PMID:331943

Symptoms and Diagnosis of Metabolic Syndrome

Science.gov (United States)

... Thromboembolism Aortic Aneurysm More Symptoms and Diagnosis of Metabolic Syndrome Updated:Apr 13,2017 What are the symptoms ... Syndrome? This content was last reviewed August 2016. Metabolic Syndrome • Home • About Metabolic Syndrome • Why Metabolic Syndrome Matters • ...

Diagnostik af Dravet syndrom

DEFF Research Database (Denmark)

Hansen, Lars Kjaersgård; Rasmussen, Niels Henrik; Ousager, Lilian Bomme

2010-01-01

Dravet syndrome is an epileptic syndrome of infancy. We describe the features of two cases with genetically verified SCNA1 mutations. The diagnosis was established rather late in one case. The epilepsies were medically intractable and the symptoms characteristic of Dravet syndrome. The children...

[Bilateral "crocodile tears syndrome" associated with Melkersson-Rosenthal syndrome--case report].

Science.gov (United States)

Owecki, Michał K; Kapelusiak-Pielok, Magdalena; Kowal, Piotr; Kozubski, Wojciech

2006-01-01

We present a rare case of bilateral crocodile tears syndrome (CTS) in the course of Melkersson-Rosenthal syndrome. Melkersson-Rosenthal syndrome is characterised by a triad of recurrent orofacial swelling, relapsing facial paralysis, and fissured tongue. The classic triad is infrequent and oligosymptomatic variants are seen more frequently. CTS is a rare complication of facial nerve paralysis characterised by inappropriate lacrimation on the side of the palsy in response to salivary stimuli. It results from aberrant reinnervation of the lacrimal gland by salivary parasympathetic fibres. The therapeutic approach for an acute bout of Melkersson-Rosenthal syndrome consists mainly of steroid administration. CTS management is composed of anticholinergic drugs and surgical procedures. Botulin toxin injection into the lacrimal gland is the most modern therapeutic option. In the case presented CTS developed in a 50-year-old man after 5 incidents of facial palsy due to Melkersson-Rosenthal syndrome. The case deserves attention due to the rarity of the observed symptoms and signs.

Acute nephritic syndrome

Science.gov (United States)

Glomerulonephritis - acute; Acute glomerulonephritis; Nephritis syndrome - acute ... Acute nephritic syndrome is often caused by an immune response triggered by an infection or other disease. Common causes in children ...

The impact of autism spectrum disorder symptoms on gesture use in fragile X syndrome and Down syndrome

Directory of Open Access Journals (Sweden)

Emily Lorang

2017-12-01

Full Text Available Background & aims This study compared gesture rate and purpose in participants with Down syndrome and fragile X syndrome, and the impact of autism spectrum disorder symptoms on each syndrome. Methods Twenty individuals with fragile X syndrome and 20 individuals with Down syndrome between nine and 22 years of age participated in this study. We coded gesture rate and purpose from an autism spectrum disorder evaluation, the Autism Diagnostic Observation Schedule – Second Edition. Results We did not find between-group differences (Down syndrome compared to fragile X syndrome in gesture rate or purpose. Notably, as autism spectrum disorder symptoms increased, the group with Down syndrome produced a lower rate of gestures, but used gestures for the same purpose. Gesture rate did not change based on autism spectrum disorder symptoms in the participants with fragile X syndrome, but as autism spectrum disorder symptoms increased, the participants with fragile X syndrome produced a larger proportion of gestures to regulate behavior and a smaller proportion for joint attention/social interaction. Conclusions Overall, the amount or purpose of gestures did not differentiate individuals with Down syndrome and fragile X syndrome. However, the presence of autism spectrum disorder symptoms had a significant and unique impact on these genetic disorders. In individuals with Down syndrome, the presence of more autism spectrum disorder symptoms resulted in a reduction in the rate of gesturing, but did not change the purpose. However, in fragile X syndrome, the rate of gestures remained the same, but the purpose of those gestures changed based on autism spectrum disorder symptoms. Implications Autism spectrum disorder symptoms differentially impact gestures in Down syndrome and fragile X syndrome. Individuals with Down syndrome and more autism spectrum disorder symptoms are using gestures less frequently. Therefore, clinicians may need to consider children with

Costello syndrome

Directory of Open Access Journals (Sweden)

Madhukara J

2007-01-01

Full Text Available Costello syndrome is a rare, distinctive, multiple congenital anomaly syndrome, characterized by soft, loose skin with deep palmar and plantar creases, loose joints, distinctive coarse facial features and skeletal and cardiac abnormalities. The affected patients have a predisposition to develop malignancy, developmental delays and mental retardation. Recently, a 7-year-old male child born to normal nonconsanguineous parents presented to us with abnormal facial features, arrhythmia, mitral valve dysfunction and growth retardation. His cutaneous examination revealed lax and pigmented skin over hands and feet with deep creases, acanthosis nigricans and short curly hairs. Its differentiation from other syndromes with similar clinical features is discussed in this article.

Primary Sjögren’s Syndrome with Sensory Ganglionopathy and Painful Legs and Moving Toes Syndrome

Directory of Open Access Journals (Sweden)

Mehmet Uğur Çevik

2014-06-01

Full Text Available Sjogren’s syndrome is characterized by the sicca syndrome, with dryness of the mouth (xerostomia and the eyes (xerophthalmia. Sjogren's syndrome is the only connective tissue disease that has been associated with sensory neuronopathy. The syndrome of painful legs and moving toes consisting of pain in the lower limbs with spontaneous movements of the toes or feet. The association between Sjogren’s syndrome and painful legs and moving toes syndrome is a rare condition

Psychosomatic syndromes and anorexia nervosa

Directory of Open Access Journals (Sweden)

Abbate-Daga Giovanni

2013-01-01

Full Text Available Abstract Background In spite of the role of some psychosomatic factors as alexithymia, mood intolerance, and somatization in both pathogenesis and maintenance of anorexia nervosa (AN, few studies have investigated the prevalence of psychosomatic syndromes in AN. The aim of this study was to use the Diagnostic Criteria for Psychosomatic Research (DCPR to assess psychosomatic syndromes in AN and to evaluate if psychosomatic syndromes could identify subgroups of AN patients. Methods 108 AN inpatients (76 AN restricting subtype, AN-R, and 32 AN binge-purging subtype, AN-BP were consecutively recruited and psychosomatic syndromes were diagnosed with the Structured Interview for DCPR. Participants were asked to complete psychometric tests: Body Shape Questionnaire, Beck Depression Inventory, Eating Disorder Inventory–2, and Temperament and Character Inventory. Data were submitted to cluster analysis. Results Illness denial (63% and alexithymia (54.6% resulted to be the most common syndromes in our sample. Cluster analysis identified three groups: moderate psychosomatic group (49%, somatization group (26%, and severe psychosomatic group (25%. The first group was mainly represented by AN-R patients reporting often only illness denial and alexithymia as DCPR syndromes. The second group showed more severe eating and depressive symptomatology and frequently DCPR syndromes of the somatization cluster. Thanatophobia DCPR syndrome was also represented in this group. The third group reported longer duration of illness and DCPR syndromes were highly represented; in particular, all patients were found to show the alexithymia DCPR syndrome. Conclusions These results highlight the need of a deep assessment of psychosomatic syndromes in AN. Psychosomatic syndromes correlated differently with both severity of eating symptomatology and duration of illness: therefore, DCPR could be effective to achieve tailored treatments.

The Marfan syndrome genetics

Directory of Open Access Journals (Sweden)

Galina Pungerčič

2005-05-01

Full Text Available Background: The Marfan syndrome is an autosomal dominant heritable disorder of connective tissue. It is caused by mutations in the fibrillin-1 gene encoding glycoprotein fibrillin-1, a component of microfibrils of extracellular matrix. Patients with Marfan syndrome show wide spectra of clinical signs, primarily on skeletal, cardiovascular and ocular organ systems. Cardiovascular complications (especially aortic aneurysm and aortic dissection are the most common cause of mortality of Marfan syndrome patients. Discovering genotype-phenotype correlations is complicated because of the large number of mutations reported as well as clinical heterogeneity among individuals with the same mutation. Despite the progress in the knowledge of the molecular nature of Marfan syndrome the diagnosis is still based mainly on the clinical features in the different body systems.Conclusions: Early identification of patient with Marfan syndrome is of considerable importance because of appropriate treatment that can greatly improve life expectancy. Unfortunately, despite the improvement of diagnostic methods, medical and surgical therapy, the mortality due to undiagnosed Marfan syndrome is still high. The present article reviews the molecular genetic studies of Marfan syndrome since the discovery of the mutations in the fibrillin-1 gene.

A Rare Case of Acute Coronary Syndrome in a Patient With Turner Syndrome.

Science.gov (United States)

Kemaloglu, Tugba; Ozer, Nihat; Fikri Yapici, Mehmet

2016-05-01

In Turner syndrome, cardiovascular complications are the most important causes of early mortality. Congenital cardiovascular abnormalities are found in approximately one third of Turner syndrome patients. Developments in diagnosis and treatment have decreased the rate of mortality related to these abnormalities. In recent years, many papers have mentioned that coronary artery disease developing at early ages in patients with Turner syndrome causes sudden deaths. The patient, a 27-year-old female was admitted to the emergency room with chest pain at rest. She was diagnosed with Turner Syndrome in her teenage years due to amenorrhea. Patients with ECG changes and cardiac enzyme elevations were treated with acute coronary syndrome. The young woman with Turner Syndrome have several risk factors for early Coronary Artery Disease development. In such cases, dramatic results like sudden death or heart attack at an early age may occur in cases of insufficient follow-up and treatment.

Prevalence of dry eye syndrome and Sjogren's syndrome in patients with rheumatoid arthritis.

Science.gov (United States)

Kosrirukvongs, Panida; Ngowyutagon, Panotsom; Pusuwan, Pawana; Koolvisoot, Ajchara; Nilganuwong, Surasak

2012-04-01

Rheumatoid arthritis has manifestations in various organs including ophthalmic involvement. The present study evaluates prevalence of dry eye and secondary Sjogren's syndrome using salivary scintigraphy which has not been used in previous reports. To evaluate the prevalence of secondary Sjogren's syndrome in patients with rheumatoid arthritis, including clinical characteristics and dry eye, compared with non-Sjogren's syndrome. Descriptive cross sectional study Sixty-one patients with rheumatoid arthritis were recruited at Siriraj Hospital during March 2009-September 2010 and filled in the questionnaires about dry eye for Ocular Surface Disease Index (OSDI) with a history taking of associated diseases, medications, duration of symptoms of dry eyes and dry mouth. The Schirmer I test without anesthesia, tear break-up time, rose bengal staining score, severity of keratitis and salivary scintigraphy were measured and analyzed. Prevalence of secondary Sjogren's syndrome and dry eye were 22.2% (95% CI 15.4 to 30.9) and 46.7% (95% CI 38.0 to 55.6), respectively. Dry eye interpreted from OSDI, Schirmer 1 test, tear break-up time and rose bengal staining was 16.4%, 46.7%, 82% and 3.3% respectively. Fifty-two percent of patients had a history of dry eye and dry mouth with mean duration 27.4 and 29.8 months, respectively. Superficial punctate keratitis and abnormal salivary scintigraphy were found in 58.2% and 77.8%. Duration of rheumatoid arthritis, erythrocyte sedimentation rate were not correlated with secondary Sjogren's syndrome. Dry eye from OSDI with secondary Sjogren's syndrome (33.3%) compared with non-Sjogren's syndrome (9.5%) was significant difference (p = 0.008). Adjusted odds ratio for secondary Sjogren's syndrome in OSDIL score > 25 was 13.8 (95% CI 2.6 to 73.8, p = 0.002) compared to OSDI score dry eye syndrome and secondary Sjogren's syndrome in rheumatoid arthritis was crucial for evaluation of their severity and proper management.

Polycystic Ovary Syndrome FAQ

Science.gov (United States)

... Ovary Syndrome (PCOS) • What are common signs and symptoms of polycystic ovary syndrome (PCOS)? • What causes PCOS? • What is insulin resistance? • ... with PCOS? •Glossary What are common signs and symptoms of polycystic ovary syndrome (PCOS)? Common PCOS signs and symptoms include the ...

[Characteristics of traditional Chinese medicine syndromes in patients with acute ischemic stroke of yin or yang syndrome: a multicenter trial].

Science.gov (United States)

You, Jin-song; Huang, Yan; Cai, Ye-feng; Guo, Jian-wen; Liang, Wei-xiong; Huang, Pei-xin; Liu, Mao-cai

2008-04-01

To explore the composition characteristics of traditional Chinese medicine (TCM) syndromes in patients with acute ischemic stroke of yin or yang syndrome by investigating the characteristics of TCM syndromes at different periods after onset. One thousand two hundred and forty-six patients with acute ischemic stroke were admitted in twenty hospitals. According to the "diagnostic criteria of syndrome differentiation of stroke", the characteristics of syndromes in the patients were investigated at the periods of 1-3 days, 4-10 days and 11-30 days after they had ischemic stroke. General distribution of six basic syndromes was compared between the patients with yin syndrome and the patients with yang syndrome at the three periods. The six basic syndromes were wind syndrome, pathogenic fire syndrome, phlegm syndrome, blood stasis syndrome, qi deficiency syndrome, and syndrome of yin deficiency and yang hyperactivity. The percentages of wind, pathogenic fire, and phlegm syndromes in the patients were decreased at the period of 11-30 days as compared with the period of 1-3 days (87.1% vs 79.3%, 52.1% vs 38.7% and 67.1% vs 57.4% respectively, P0.05). There were no differences in the distribution of yin and yang syndromes among the three periods (P>0.05). The percentages of syndromes of wind, pathogenic fire, phlegm, and yin deficiency and yang hyperactivity were higher (Pfour or five syndromes were higher, and the percentages of single-syndromes and complex syndromes of two syndromes were lower in patients with yang syndrome than in patients with yin syndrome (P<0.05, P<0.01). The most frequent complex syndromes in patients with yin syndrome were complex syndrome of wind, phlegm, blood stasis and qi deficiency, and complex syndrome of wind, phlegm and qi deficiency; while the most frequent complex syndromes in patients with yang syndrome were complex syndrome of wind, pathogenic fire, phlegm and qi deficiency, and complex syndrome of wind, pathogenic fire and phlegm. The

Pfeiffer syndrome

Directory of Open Access Journals (Sweden)

Fryns Jean-Pierre

2006-06-01

Full Text Available Abstract Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows, abnormal viscera, and slow development. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three clinical subtypes. Type 1 "classic" Pfeiffer syndrome involves individuals with mild manifestations including brachycephaly, midface hypoplasia and finger and toe abnormalities; it is associated with normal intelligence and generally good outcome. Type 2 consists of cloverleaf skull, extreme proptosis, finger and toe abnormalities, elbow ankylosis or synostosis, developmental delay and neurological complications. Type 3 is similar to type 2 but without a cloverleaf skull. Clinical overlap between the three types may occur. Pfeiffer syndrome affects about 1 in 100,000 individuals. The disorder can be caused by mutations in the fibroblast growth factor receptor genes FGFR-1 or FGFR-2. Pfeiffer syndrome can be diagnosed prenatally by sonography showing craniosynostosis, hypertelorism with proptosis, and broad thumb, or molecularly if it concerns a recurrence and the causative mutation was found. Molecular genetic testing is important to confirm the diagnosis. Management includes multiple-staged surgery of craniosynostosis. Midfacial surgery is performed to reduce the exophthalmos and the midfacial hypoplasia.

Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome.

Science.gov (United States)

Myers, Angela; Bernstein, Jonathan A; Brennan, Marie-Luise; Curry, Cynthia; Esplin, Edward D; Fisher, Jamie; Homeyer, Margaret; Manning, Melanie A; Muller, Eric A; Niemi, Anna-Kaisa; Seaver, Laurie H; Hintz, Susan R; Hudgins, Louanne

2014-11-01

The RASopathies are a family of developmental disorders caused by heritable defects of the RAS/MAPK signaling pathway. While the postnatal presentation of this group of disorders is well known, the prenatal and neonatal findings are less widely recognized. We report on the perinatal presentation of 10 patients with Noonan syndrome (NS), nine with Cardiofaciocutaneous syndrome (CFCS) and three with Costello syndrome (CS), in conjunction with the results of a comprehensive literature review. The majority of perinatal findings in NS, CS, and CFCS are shared: polyhydramnios; prematurity; lymphatic dysplasia; macrosomia; relative macrocephaly; respiratory distress; hypotonia, as well as cardiac and renal anomalies. In contrast, fetal arrhythmia and neonatal hypoglycemia are relatively specific to CS. NS, CS, and CFCS should all be considered as a possible diagnosis in pregnancies with a normal karyotype and ultrasound findings of a RASopathy. Recognition of the common perinatal findings of these disorders should facilitate both their prenatal and neonatal diagnosis. © 2014 Wiley Periodicals, Inc.

Mobius syndrome: MRI features

International Nuclear Information System (INIS)

Markarian, Maria F.; Villarroel, Gonzalo M.; Nagel, Jorge R.

2003-01-01

Purpose: Mobius Syndrome or congenital facial diplegia is associated with paralysis of the lateral gaze movements. This syndrome may include other cranial nerve palsies and be associated to musculoskeletal anomalies. Our objective is to show the MRI findings in Mobius Syndrome. Material and methods: MRI study was performed in 3 patients with clinic diagnosis of Mobius Syndrome. RMI (1.5T); exams included axial FSE (T1 and T2), FLAIR, SE/EPI, GRE/20, sagittal FSE T2 , coronal T1, diffusion, angio MRI and Spectroscopy sequences. Results: The common features of this syndrome found in MRI were: depression or straightening of the floor of the fourth ventricle, brainstem anteroposterior diameter diminution, morphologic alteration of the pons and medulla oblongata and of the hypoglossal nuclei as well as severe micrognathia. Conclusion: The morphologic alterations of Mobius Syndrome can be clearly identified by MRI; this method has proved to be a useful diagnostic examination. (author)

Ramsay Hunt syndrome

Science.gov (United States)

Hunt syndrome; Herpes zoster oticus; Geniculate ganglion zoster; Geniculate herpes; Herpetic geniculate ganglionitis ... The varicella-zoster virus that causes Ramsay Hunt syndrome is the same virus that causes chickenpox and ...

[Congenital sensorineural deafness and associated syndromes].

Science.gov (United States)

Moatti, L; Garabedian, E N; Lacombe, H; Spir-Jacob, C

1990-01-01

The etiology of perceptive deafness, especially the congenital variety, requires investigation. The presence of a variety of signs associated with deafness constitutes an "associated syndrome" and helps to define a possible genetic origin. These syndromes only represent a small percentage of overall causes of deafness in children, since at most they account for only 10% of cases. Certain syndromes are encountered more often or are well known, others are extremely rare or have only been described recently. The authors report six of these very rare syndromes discovered among their patients: a KID syndrome, a Leopard syndrome, a Norrie syndrome, a Jervell and Lange Nielsen syndrome, a recently described entity called CEE with deafness and an External Neuro-Cochleo-Pancreatic syndrome which would not appear to have been previously described.

Ambras syndrome

Directory of Open Access Journals (Sweden)

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.

Analysis of the accuracy and precision of the McMaster method in detection of the eggs of Toxocara and Trichuris species (Nematoda) in dog faeces.

Science.gov (United States)

Kochanowski, Maciej; Dabrowska, Joanna; Karamon, Jacek; Cencek, Tomasz; Osiński, Zbigniew

2013-07-01

The aim of this study was to determine the accuracy and precision of McMaster method with Raynaud's modification in the detection of the eggs of the nematodes Toxocara canis (Werner, 1782) and Trichuris ovis (Abildgaard, 1795) in faeces of dogs. Four variants of McMaster method were used for counting: in one grid, two grids, the whole McMaster chamber and flotation in the tube. One hundred sixty samples were prepared from dog faeces (20 repetitions for each egg quantity) containing 15, 25, 50, 100, 150, 200, 250 and 300 eggs of T. canis and T. ovis in 1 g of faeces. To compare the influence of kind of faeces on the results, samples of dog faeces were enriched at the same levels with the eggs of another nematode, Ascaris suum Goeze, 1782. In addition, 160 samples of pig faeces were prepared and enriched only with A. suum eggs in the same way. The highest limit of detection (the lowest level of eggs that were detected in at least 50% of repetitions) in all McMaster chamber variants were obtained for T. canis eggs (25-250 eggs/g faeces). In the variant with flotation in the tube, the highest limit of detection was obtained for T. ovis eggs (100 eggs/g). The best results of the limit of detection, sensitivity and the lowest coefficients of variation were obtained with the use of the whole McMaster chamber variant. There was no significant impact of properties of faeces on the obtained results. Multiplication factors for the whole chamber were calculated on the basis of the transformed equation of the regression line, illustrating the relationship between the number of detected eggs and that of the eggs added to the'sample. Multiplication factors calculated for T. canis and T. ovis eggs were higher than those expected using McMaster method with Raynaud modification.

Cushing's syndrome during pregnancy

NARCIS (Netherlands)

Mulder, W. J.; Berghout, A.; Wiersinga, W. M.

1990-01-01

Two cases of Cushing's syndrome during pregnancy are reported, both due to an adrenal adenoma. The association of pregnancy and Cushing's syndrome has up to now been described in 48 patients (including our two cases); Cushing's syndrome was ACTH-independent in 59%, ACTH-dependent in 33%, and of

Freqüência de parasitas intestinais em felinos mantidos em zoológicos Frequency of intestinal parasites in felines kept in zoos

Directory of Open Access Journals (Sweden)

G.C.K. Müller

2005-08-01

Full Text Available The endoparasites occurrence in felines confined in two Zoos, between December 1999 and April 2000, was studied. Fecal samples of 18 felines (Panthera tigris, Panthera leo, Felis serval, Panthera onca, Puma concolor, Leopardus tigrinus and Leopardus wiedii were collected and the methods of Faust, modified Baermann and Hoffmann, were used for fecal analyses. Three genera were identified in the feces: Trichuris spp., Toxocara spp. and Giardia spp. In the zoo of Pomerode, six animals (46% were infected by Trichuris spp. and/or Giardia spp. and all samples from the zoo of Brusque were infected by Trichuris spp., Toxocara spp. and Giardia spp.

Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome). Case report.

Science.gov (United States)

Fini, G; Belli, E; Mici, E; Virciglio, P; Moricca, L M; D'Itri, L; Leonardi, A; Malavenda, M S; Krizzuk, D; Merola, R; Maturo, A; Pasta, V

2013-01-01

Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome (NBCCS) comprises multiple basal cell carcinomas, keratocysts of the jaw, palmar/plantar pits, spine and rib anomalies, calcifications of the falx cerebri etc. The diagnosis is made according to clinical criteria (Kimonis Criteria) and genetic ones. We studied one family where father and then his sun resulted affected by each syndrome. Gorlin-Goltz syndrome is a rare disease diagnosed according to clinical criteria sometimes difficult to integrate. The family case we presented shows how you can get diagnosis even in older age and after numerous surgeries. Patients should be given special attention and therefore should be monitorized and need multidisciplinary treatments continued in time, even a trivial change of signs and symptoms may be an important indicator of a precipitating event which puts the patient's life under threat.

A rare cause of acute coronary syndrome: Kounis syndrome.

Science.gov (United States)

Almeida, João; Ferreira, Sara; Malheiro, Joana; Fonseca, Paulo; Caeiro, Daniel; Dias, Adelaide; Ribeiro, José; Gama, Vasco

2016-12-01

Kounis syndrome is an acute coronary syndrome in the context of a hypersensitivity reaction. The main pathophysiological mechanism appears to be coronary vasospasm. We report the case of a patient with a history of allergy to quinolones, who was given ciprofloxacin before an elective surgical procedure and during drug administration developed symptoms and electrocardiographic changes suggestive of ST-segment elevation acute coronary syndrome. The drug was suspended and coronary angiography excluded epicardial coronary disease. Two hours after withdrawal of the drug the symptoms and ST elevation had resolved completely. Copyright © 2016 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier España, S.L.U. All rights reserved.

Pediatric Toxic Shock Syndrome

Directory of Open Access Journals (Sweden)

Jennifer Yee

2017-09-01

Full Text Available Audience: This scenario was developed to educate emergency medicine residents on the diagnosis and management of a pediatric patient with toxic shock syndrome. The case is also appropriate for teaching of medical students and advanced practice providers, as well as a review of the principles of crisis resource management, teamwork, and communication. Introduction: Toxic shock syndrome is a low-frequency, high-acuity scenario requiring timely identification and aggressive management. If patients suffering from this condition are managed incorrectly, they may progress into multi-organ dysfunction and potentially death. Toxic shock syndrome has been associated with Streptococcus and Staphylococcus aureus (Staph. Approximately half of Staph cases are associated with menstruation, which was first described in the 1970s-1980s and was associated with the use of absorbent tampons.1 Group A Streptococcus may cause complications such as necrotizing fasciitis and gangrenous myositis.2 Pediatric patients may present critically ill from toxic shock syndrome. Providers need to perform a thorough history and physical exam to discern the source of infection. Management requires aggressive care with antibiotics and IV fluids. Objectives: By the end of this simulation session, the learner will be able to: 1 Recognize toxic shock syndrome. 2 Review the importance of a thorough physical exam. 3 Discuss management of toxic shock syndrome, including supportive care and the difference in antibiotic choices for streptococcal and staphylococcal toxic shock syndrome. 4 Appropriately disposition a patient suffering from toxic shock syndrome. 5 Communicate effectively with team members and nursing staff during a resuscitation of a critically ill patient. Method: This session was conducted using high-fidelity simulation, followed by a debriefing session and lecture on toxic shock syndrome.

Klinefelter's syndrome and Prader-Willi syndrome: A rare combination

NARCIS (Netherlands)

Verhoeven, W.M.A.; Vries, B.B. van; Duffels, S.J.H.; Egger, J.I.M.; Noordam, C.; Tuinier, S.

2007-01-01

In this paper a review is presented of the rare combination of Klinefelter's syndrome and Prader-Willi syndrome (PWS) and a second case of this combination with a uniparental disomy (UPD) etiology of PWS is described. Patients outlined in all other 8 reports and the present case have a PWS

Klinefelter's syndrome and Prader-Willi syndrome: a rare combination.

NARCIS (Netherlands)

Verhoeven, W.M.A.; Vries, B.B. van; Duffels, S.J.H.; Egger, J.I.M.; Noordam, C.; Tuinier, S.

2007-01-01

In this paper a review is presented of the rare combination of Klinefelter's syndrome and Prader-Willi syndrome (PWS) and a second case of this combination with a uniparental disomy (UPD) etiology of PWS is described. Patients outlined in all other 8 reports and the present case have a PWS

Hyperimmunoglobulin E syndrome with Sjogren's syndrome in a child

African Journals Online (AJOL)

We describe a case of hyperimmunoglobulin E syndrome (HIES) associated with Sjogren's syndrome (SS) in a 10-year-old boy and provide a brief review of the literature. Although seen in adults, SS occurring after a primary immunodeficiency disease such as HIES has not previously been reported in a child.

Marfan syndrome (image)

Science.gov (United States)

Marfan syndrome is a disorder of connective tissue which causes skeletal defects typically recognized in a tall, lanky person. A person with Marfan syndrome may exhibit long limbs and spider-like fingers, ...

Hyperimmunoglobulin E syndrome

Science.gov (United States)

... page: //medlineplus.gov/ency/article/001311.htm Hyperimmunoglobulin E syndrome To use the sharing features on this page, please enable JavaScript. Hyperimmunoglobulin E syndrome is a rare, inherited disease. It causes ...

Congenital hypoventilation syndrome and Hirschsprung's disease - Haddad syndrome: A neonatal case presentation.

Science.gov (United States)

Jaiyeola, P; El-Metwally, D; Viscardi, R; Greene, C; Woo, H

2015-01-01

Congenital central hypoventilation syndrome (CCHS) is an uncommon cause of apnea in the newborn characterized by the occurrence of apnea predominantly during sleep. Haddad syndrome is CCHS with Hirschsprung's disease. We report a newborn with Haddad syndrome that had a family history of spinal muscular atrophy and discuss aspects of CCHS and important considerations in the evaluation of apnea in the term newborn.

Lemierre's syndrome

DEFF Research Database (Denmark)

Johannesen, Katrine M; Bodtger, Uffe

2016-01-01

This is a systematic review of cases with Lemierre's syndrome (LS) in the past 5 years. LS is characterized by sepsis often evolving after a sore throat or tonsillitis and then complicated by various septic emboli and thrombosis of the internal jugular vein. Symptoms include sepsis, pain, and/or ...... LS in this day and age appears to be low, however the syndrome is difficult to recognize, and still requires the full attention of the clinician.......This is a systematic review of cases with Lemierre's syndrome (LS) in the past 5 years. LS is characterized by sepsis often evolving after a sore throat or tonsillitis and then complicated by various septic emboli and thrombosis of the internal jugular vein. Symptoms include sepsis, pain, and....../or swelling in the throat or neck, as well as respiratory symptoms. Laboratory findings show elevated infectious parameters and radiological findings show thrombosis of the internal jugular vein and emboli in the lungs or other organs. The syndrome is often associated with an infection with Fusobacterium...

Kartagener's Syndrome.

Science.gov (United States)

Dhar, D K; Ganguly, K C; Alam, S; Hossain, A; Sarker, U K; Das, B K; Haque, M J

2009-01-01

Kartagener's Syndrome or Immotile Cilia Syndrome, a variant of Primary Ciliary Dyskinesia (PCD), is a rare autosomal recessive genetic disorder caused by defect in the tiny hair like structure, the cilia lining the respiratory tract (upper and lower), sinuses, eustachian tubes, middle ear and fallopian tubes. Here electron microscopy shows abnormal arrangement of ciliary tubules and patients with Kartagener's syndrome has an absence of dynein arms at the base of the cilia. The inability of cilia to move results in inadequate clearance of bacteria from the air passages, resulting in an increased risk of infection and causing bronchiectasis. Another result of ciliary immobility is infertility. A 60 years old lady was diagnosed as a case of Kartagener's syndrome. She had history of chronic cough for 20 years, irregular fever for 20 years and occasional shortness of breath for 5 years. Relevant investigations revealed dextrocardia, situs inversus, bilateral maxillary sinusitis with non pneumatised frontal sinus and bronchiectasis. She was treated with low concentration oxygen inhalation, antibiotic, bronchodilator, chest physiotherapy including postural drainage, vitamins and other supportive treatment.

Clinicopathological comparison of colorectal and endometrial carcinomas in patients with Lynch-like syndrome versus patients with Lynch syndrome.

Science.gov (United States)

Mas-Moya, Jenny; Dudley, Beth; Brand, Randall E; Thull, Darcy; Bahary, Nathan; Nikiforova, Marina N; Pai, Reetesh K

2015-11-01

Screening for DNA mismatch repair (MMR) deficiency in colorectal and endometrial carcinomas identifies patients at risk for Lynch syndrome. Some patients with MMR-deficient tumors have no evidence of a germline mutation and have been described as having Lynch-like syndrome. We compared the clinicopathological features of colorectal and endometrial carcinomas in patients with Lynch-like syndrome and Lynch syndrome. Universal screening identified 356 (10.6%) of 3352 patients with colorectal carcinoma and 72 (33%) of 215 patients with endometrial carcinoma with deficient DNA MMR. Sixty-six patients underwent germline mutation analysis with 45 patients (68%) having evidence of a germline MMR gene mutation confirming Lynch syndrome and 21 patients (32%) having Lynch-like syndrome with no evidence of a germline mutation. Most patients with Lynch-like syndrome had carcinoma involving the right colon compared to patients with Lynch syndrome (93% versus 45%; P Lynch syndrome confirmed by germline mutation analysis. Synchronous or metachronous Lynch syndrome-associated carcinoma was more frequently identified in patients with Lynch syndrome compared to Lynch-like syndrome (38% versus 7%; P = .04). There were no significant differences in clinicopathological variables between patients with Lynch-like syndrome and Lynch syndrome with endometrial carcinoma. In summary, 32% of patients with MMR deficiency concerning Lynch syndrome will have Lynch-like syndrome. Our results demonstrate that patients with Lynch-like syndrome are more likely to have right-sided colorectal carcinoma, less likely to have synchronous or metachronous Lynch syndrome-associated carcinoma, and less likely to demonstrate isolated loss of MSH6 expression within their tumor. Copyright © 2015 Elsevier Inc. All rights reserved.

Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome

NARCIS (Netherlands)

Narumi, Yoko; Aoki, Yoko; Niihori, Tetsuya; Neri, Giovanni; Cave, Helene; Verloes, Alain; Nava, Caroline; Kavamura, Maria Ines; Okamoto, Nobuhiko; Kurosawa, Kenji; Hennekam, Raoul C. M.; Wilson, Louise C.; Gillessen-Kaesbach, Gabriele; Wieczorek, Dagmar; Lapunzina, Pablo; Ohashi, Hirofumi; Makita, Yoshio; Kondo, Ikuko; Tsuchiya, Shigeru; Ito, Etsuro; Sameshima, Kiyoko; Kato, Kumi; Kure, Shigeo; Matsubara, Yokhi

2007-01-01

Cardio-facio-cutaneous (CFC) syndrome is a multiple congenital anomaly/mental retardation syndrome characterized by heart defects, a distinctive facial appearance, ectodermal abnormalities and mental retardation. Clinically, it overlaps with both Noonan syndrome and Costello syndrome, which are

Genetics Home Reference: MEGDEL syndrome

Science.gov (United States)

... Leigh-like syndrome 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MEGDHEL syndrome SERAC1 ... Topic: Newborn Screening Genetic and Rare Diseases Information Center (1 ...

Usher syndrome type III can mimic other types of Usher syndrome.

Science.gov (United States)

Pennings, Ronald J E; Fields, Randall R; Huygen, Patrick L M; Deutman, August F; Kimberling, William J; Cremers, Cor W R J

2003-06-01

Clinical and genetic characteristics are presented of 2 patients from a Dutch Usher syndrome type III family who have a new homozygous USH3 gene mutation: 149-152delCAGG + insTGTCCAAT. One individual (IV:1) is profoundly hearing impaired and has normal vestibular function and retinitis punctata albescens (RPA). The other individual is also profoundly hearing impaired, but has well-developed speech, vestibular areflexia, and retinitis pigmentosa sine pigmento (RPSP). These findings suggest that Usher syndrome type III can be clinically misdiagnosed as either Usher type I or II; that Usher syndrome patients who are profoundly hearing impaired and have normal vestibular function should be tested for USH3 mutations; and that RPA and RPSP can occur as fundoscopic manifestations of pigmentary retinopathy in Usher syndrome.

Malignant vasovagal syndrome in two patients with Wolff-Parkinson-White syndrome

Science.gov (United States)

Gandhi, N M; Bennett, D H

2004-01-01

The presence of Wolff-Parkinson-White (WPW) syndrome in patients presenting with syncope suggests that tachyarrhythmia may be the cause. However, the symptoms require careful evaluation. Two young patients presented with syncope and were found to have WPW syndrome on their ECG. In both patients symptoms were suggestive of vasovagal syncope. During tilt testing, both the patients developed their typical symptoms with a fall in blood pressure and heart rate confirming the diagnosis of malignant vasovagal syndrome. PMID:15020537

Antibiotic susceptibility of Brachyspira hyodysenteriae isolates from Czech swine farms: a 10-year follow-up study

OpenAIRE

Josef Prášek; Daniel Šperling; Dana Lobová; Jiří Smola; Alois Čížek

2014-01-01

Brachyspira hyodysenteriae is the causative agent of swine dysentery. Loss of clinical efficacy of some antimicrobial agents authorized for treating swine dysentery was observed on certain Czech pig farms. The aim of the present study was to evaluate the antimicrobial sensitivity of six antibiotics using a set of 202 randomly selected B. hyodysenteriae isolates obtained from farms in the Czech Republic between years 1997 and 2006. Minimum inhibitory concentration of antibiotics tylosin, linco...

Carpal Tunnel Syndrome

Science.gov (United States)

... a passing cramp? It could be carpal tunnel syndrome. The carpal tunnel is a narrow passageway of ... three times more likely to have carpal tunnel syndrome than men. Early diagnosis and treatment are important ...

Moebius Syndrome Foundation

Science.gov (United States)

... craniofacial/neurological disorder. Individuals with Moebius syndrome cannot smile or frown, and do not have lateral eye ... the organization to ensure that they are in line with the mission of the Moebius Syndrome Foundation. ...

Ehlers-Danlos syndrome

Directory of Open Access Journals (Sweden)

Wakhloo Tulika

2015-01-01

Full Text Available Ehlers-Danlos syndrome is a group of clinically and genetically heterogeneous inherited connective tissue disorders with widespread manifestations. The prevalence of this syndrome is 1:5000 worldwide without gender, racial or ethnic associations. This syndrome is characterized by joint hypermobility, dermal hyperelasticity and tissue fragility caused by mutations in genes encoding collagen type I, III, V and enzymes involved in the posttranslational modifications of collagen. The oral manifestations include increased mucosal fragility, delayed wound healing, early onset generalized periodontitis and temporomandibular joint hypermobility. Children presenting with this syndrome are often misdiagnosed for hematological problem as they present with bruising, malignancy and/or child abuse. A thorough assessment of the patient is, therefore, essential for early diagnosis and patient referral. This paper reviews current literature, oral manifestations, diagnostic investigations and effective dental management.

What Is Respiratory Distress Syndrome?

Science.gov (United States)

... Home / Respiratory Distress Syndrome Respiratory Distress Syndrome Also known as What Is Respiratory ... This condition is called apnea (AP-ne-ah). Respiratory Distress Syndrome Complications Depending on the severity of ...

The acute radiation syndrome

International Nuclear Information System (INIS)

Souhami Filho, L.

1985-01-01

Symptoms and signs from medical aspects resulting from whole body exposure, or in the main part, to ionizing radiation are described. The dose-response relationship is studied and the exposure is divided in three parts: central nervous system syndrome, gastrointestinal syndrome and hematopoietic syndrome. Brief comments about the treatment are reported. (M.A.C.) [pt

Gilles de la Tourette's syndrome in a patient with 47(XXX) syndrome: a case report.

Science.gov (United States)

Chiappedi, Matteo; de Vincenzi, Silvia; Dolci, Roberta; De Luca, Sara; Bejor, Maurizio

2011-11-05

To the best of our knowledge, this is the first report of a comorbidity between Gilles de la Tourette's syndrome and 47 (XXX) syndrome. The clinical picture of Gilles de la Tourette's Syndrome is well described, while 47 (XXX) syndrome is much more rare and has a broader spectrum of possible phenotypic presentations. An Italian Caucasian girl was referred at the age of 11 to our Rehabilitation Center for anxiety and learning difficulties. The girl had already been diagnosed as having 47(XXX) syndrome; she had some rather typical features of the chromosomal abnormality, but she also showed a high level of anxiety and the presence of motor and vocal tics. When an accurate history was taken, a diagnosis of Gilles de la Tourette's Syndrome emerged. The possible interaction between peculiar features of these two syndromes in terms of neuropsychological and affective functioning is both interesting for the specific case and to hypothesize models of rehabilitation for patients with one or both syndromes. Executive functions are specifically reduced in both syndromes, therefore it might be hard to discriminate the contribution of each one to the general impairment; the same applies to anxiety. Moreover, mental retardation (with a significantly lower verbal cognitive functioning) poses relevant problems when suggesting cognitive behavioral or psychoeducational rehabilitative approaches.

What Is Antiphospholipid Antibody Syndrome?

Science.gov (United States)

... Back To Health Topics / Antiphospholipid Antibody Syndrome Antiphospholipid Antibody Syndrome Also known as What Is Antiphospholipid (AN-te-fos-fo-LIP-id) antibody syndrome (APS) is an autoimmune disorder. Autoimmune disorders ...

Noonan syndrome - a new survey.

Science.gov (United States)

Tafazoli, Alireza; Eshraghi, Peyman; Koleti, Zahra Kamel; Abbaszadegan, Mohammadreza

2017-02-01

Noonan syndrome (NS) is an autosomal dominant disorder with vast heterogeneity in clinical and genetic features. Various symptoms have been reported for this abnormality such as short stature, unusual facial characteristics, congenital heart abnormalities, developmental complications, and an elevated tumor incidence rate. Noonan syndrome shares clinical features with other rare conditions, including LEOPARD syndrome, cardio-facio-cutaneous syndrome, Noonan-like syndrome with loose anagen hair, and Costello syndrome. Germline mutations in the RAS-MAPK (mitogen-activated protein kinase) signal transduction pathway are responsible for NS and other related disorders. Noonan syndrome diagnosis is primarily based on clinical features, but molecular testing should be performed to confirm it in patients. Due to the high number of genes associated with NS and other RASopathy disorders, next-generation sequencing is the best choice for diagnostic testing. Patients with NS also have higher risk for leukemia and specific solid tumors. Age-specific guidelines for the management of NS are available.

Skin Peeling Syndrome

Directory of Open Access Journals (Sweden)

Sharma Rajeev

2000-01-01

Full Text Available Peeling of the skin is an uncommonly encountered disorder. Occurrence of vesicles and bullae in peeling skin syndrome is very rare. We report a case of idiopathic peeling skin syndrome with vesicular lesions.

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 ...

Waardenburg syndrome with familial unilateral renal agenesis: a new syndrome variant?

Science.gov (United States)

Webb, Katie M; Smith, Alisha J; Dansby, Linda M; Diskin, Charles J

2015-06-01

A 64-year-old man with Waardenburg syndrome presented with anuria and was subsequently discovered by renal ultrasound to have unilateral renal agenesis. The patient is one of three generations with incidental finding of renal agenesis also marked by the presence of Waardenburg syndrome. To our knowledge, there has been no mention elsewhere in the scientific literature of a variant of Waardenburg syndrome with associated renal agenesis. © 2014 The Authors. Therapeutic Apheresis and Dialysis © 2014 International Society for Apheresis.

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

Gorlin-Goltz Syndrome

Directory of Open Access Journals (Sweden)

M K Sunil

2010-01-01

Full Text Available Gorlin-Goltz syndrome, also known as basal cell nevus syndrome, is an uncommon autosomal dominant inherited disorder characterized by numerous basal cell carcinomas, odontogenic keratocysts, and musculoskeletal malformation. It is occasionally associated with aggressive basal cell carcinoma and internal malignancies. It is about a muttisystemic process characterized by the presence of multiple pigmented basocellular carcinomas, keratocysts in the jaws, palmar and/or plantar pits and calcification of the falxcerebri. Hence, present a case report and a review of Gorlin-Goltz syndrome.

Eagle syndrome. A narrative review

Directory of Open Access Journals (Sweden)

Heber Arbildo

2016-09-01

Full Text Available Painful disorders in the maxillofacial region are common in dental practice. Most of these conditions are not properly diagnosed because of inadequate knowledge of craniofacial and cervico-pharyngeal syndromes such as Eagle Syndrome. The aim of this review is to describe the general aspects, diagnosis and treatment of Eagle syndrome. Eagle syndrome or stylohyoid syndrome was first described by Watt W. Eagle in 1937. It was defined as orofacial pain related to the elongation of the styloid process and ligament stylohyoid calcification. The condition is accompanied by symptoms such as dysphonia, dysphagia, sore throat, glossitis, earache, tonsillitis, facial pain, headache, pain in the temporomandibular joint and inability to perform lateral movements of the neck. Diagnosis and treatment of Eagle syndrome based on symptoms and radiographic examination of the patient will determine the need for surgical or nonsurgical treatment. Eagle syndrome is a complex disorder demanding a thorough knowledge of its signs and symptoms to make a correct diagnosis and provide an appropriate subsequent treatment. Disseminating information about this syndrome among medical-dental professionals is essential to provide adequate dental care to patients.

Influence of traditional Chinese medicine syndrome groups on quality of life in women with metabolic syndrome

Directory of Open Access Journals (Sweden)

Li-Wen Huang

2016-10-01

Full Text Available Traditional Chinese medicine (TCM; 中醫 zhōng yī syndrome groups are based on the symptoms of human diseases and guide the use of Chinese herbs. The aim of this study was to examine the effects of TCM syndrome groups on biochemical characteristics and quality of life (QOL in women with metabolic syndrome (MS. Among the 1080 registered female patients screened at our outpatient clinic, a total of 322 women aged between 18 and 65 years and meeting the requirements of MS were enrolled. All the patients were asked to fill out a questionnaire on metabolic TCM syndrome groups and a questionnaire on the QOL, the Medical Outcomes Study (MOS Short Form-12 (SF-12. Data of biochemical characteristics were collected at the same time. The present study showed MS women in TCM syndrome groups had significantly lower physical and mental component scores in SF-12 compared with those not in TCM syndrome groups. We also found MS patients in TCM syndrome groups, except Kidney Deficiency syndrome, showed higher body mass indexes, waist circumference, and hip circumference. However, there was almost no difference in most biochemical characteristics between TCM syndrome groups. The MS patients diagnosed as belonging to TCM syndrome groups had poor QOL.

Nelson syndrome: definition and management.

Science.gov (United States)

Barber, T M; Adams, E; Wass, J A H

2014-01-01

Nelson syndrome is an important complication of treatment with total bilateral adrenalectomy (TBA) for patients with refractory Cushing's disease. Although early cases of Nelson syndrome often presented with the clinical features of large sellar masses, the modern face of Nelson syndrome has changed primarily due to earlier detection (with highly resolved magnetic resonance imaging (MRI) and sensitive ACTH assays) and greater awareness of the condition, resulting in reduced morbidity and mortality. Although lack of administration of neoadjuvant pituitary radiotherapy post-TBA surgery may predict future development of Nelson syndrome, other predictive factors remain controversial. Therefore, Nelson syndrome should be screened for closely and long-term in all patients with a history of Cushing's disease and TBA. The diagnosis of Nelson syndrome remains controversial, and the pathogenesis of this condition is incompletely understood. Current hypotheses include the "released negative feedback" mechansism (residual pituitary corticotropinoma cells are "released" from the negative feedback effects of cortisol following TBA), and the "aggressive corticotropinoma" mechanism (Nelson syndrome is most likely to develop in those patients with refractory treatments - including TBA - for an underlying aggressive corticotropinoma). Effective management of Nelson syndrome with pituitary surgery and radiotherapy is often a challenge. Other therapies (such as Gamma Knife surgery and temozolomide) play an important role and merit further research into their efficacy and placement in the management pathway of Nelson syndrome. © 2014 Elsevier B.V. All rights reserved.

Goldenhar syndrome and urogenital abnormalities

Directory of Open Access Journals (Sweden)

Mohan Marulaiah

2003-01-01

Full Text Available The Goldenhar syndrome (oculo-auriculo-vertebral syn-drome or 1st and 2nd branchial arch syndrome is a com-plex of craniofacial anomalies. It has been associated with anomalies in other systems and with abnormalities of the urogenital system. We present a case of Goldenhar syn-drome with multiple renal anomalies and a urogenital si-nus, which has not been reported before.

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

Science.gov (United States)

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.

A Case of Paraneoplastic Cushing Syndrome Presenting as Hyperglycemic Hyperosmolar Nonketotic Syndrome

Directory of Open Access Journals (Sweden)

Christina E. Brzezniak

2017-04-01

Full Text Available Carcinoid tumors are neuroendocrine tumors that mainly arise in the gastrointestinal tract, lungs, and bronchi. Bronchopulmonary carcinoids have been associated with Cushing syndrome, which results from ectopic adrenocorticotrophic hormone (ACTH secretion. We report the case of a 65-year-old man, a colonel in the US Air Force, with metastatic bronchopulmonary carcinoid tumors treated on a clinical trial who was hospitalized for complaints of increasing thirst, polydipsia, polyuria, weakness, and visual changes. Decompensated hyperglycemia suggested a diagnosis of hyperglycemic hyperosmolar nonketotic syndrome (HHNS. Additional findings, which included hypokalemia, hypernatremia, hypertension, metabolic alkalosis, moon facies, and striae, raised a red flag for an ectopic ACTH syndrome. Elevated ACTH levels confirmed Cushing syndrome. Treatment with a fluid replacement and insulin drip resulted in immediate symptomatic improvement. Cushing syndrome should be considered in carcinoid patients with physical stigmata such as moon facies and striae. HHNS may be the presenting clinical feature in patients with impaired glucose metabolism.

Spectrum of Features in Pterygium Syndrome

Directory of Open Access Journals (Sweden)

Sanjay Y. Parashar

2006-04-01

Full Text Available Pterygium syndrome is a complex and rare congenital deformity that consists of contractures involving multiple flexural surfaces and associated craniofacial anomalies. It often has associated conditions, including anomalies of the cardiovascular, respiratory, gastrointestinal and genitourinary systems. It may present in different forms, including multiple pterygium syndrome of Escobar, lethal multiple pterygium syndrome, popliteal pterygium syndrome, lethal popliteal syndrome (Bartsocas-Papas syndrome and arthrogryposis multiplex congenita. The clinical presentation, multidisciplinary management and the long-term outcome in three patients with this condition are presented.

Burnout Syndrome

OpenAIRE

Panova, Gordana; Panov, Nenad; Stojanov, H; Sumanov, Gorgi; Panova, Blagica; Stojanovski, Angel; Nikolovska, Lence; Jovevska, Svetlana; Trajanovski, D; Asanova, D

2013-01-01

Introduction: Increasing work responsibilities, allocation of duties, loss of energy and motivation in everyday activities, emotional exhaustion, lack of time for themselves, insuffi cient time for rest and recreation, dissatisfaction in private life. All these symptoms can be cause of Burnout Syndrome. Aim: To see the importance of this syndrome, the consequences of job dissatisfaction, the environment, family and expression in drastic chan...

Noonan syndrome

OpenAIRE

Roberts, Amy E; Allanson, Judith E; Tartaglia, Marco; Gelb, Bruce D

2013-01-01

Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, lymphatic malformations, and bleeding difficulties. Mutations that cause Noonan syndrome alter genes encoding proteins with roles in the RAS–MAPK pathway, leading to pathway dysregulation. Management guidelines have been developed. Several clinically relevant genotype–phenotype correlations aid ris...

Crohn's Disease Associated with Sweet's Syndrome and Sjögren's Syndrome Treated with Infliximab

Directory of Open Access Journals (Sweden)

Erina N. Foster

2005-01-01

Full Text Available The association of Crohn's disease (CD and Sweet's syndrome is rare and the presence of Sjögren's syndrome in Crohn's disease is even rarer, with only three reports found in the literature. We describe two cases of Crohn's disease associated with Sweet's syndrome, one of which is the first case of CD and Sweet's concomitantly associated with Sjögren's syndrome. Both cases responded rapidly to Infliximab therapy with complete resolution of the skin lesions.

Lumbar dorsal ramus syndrome.

Science.gov (United States)

Bogduk, N

1980-11-15

Low back pain, referred pain in the lower limbs, and spasm of the back, gluteal, and hamstring muscles are clinical features which can be induced in normal volunteers by stimulating structures which are innervated by the lumbar dorsal rami. Conversely, they can be relieved in certain patients by selective interruption of conduction along dorsal rami. These facts permit the definition of a lumbar dorsal ramus syndrome, which can be distinguished from the intervertebral disc syndrome and other forms of low back pain. The distinguishing feature is that, in lumbar dorsal ramus syndrome, all the clinical features are exclusively mediated by dorsal rami and do not arise from nerve-root compression. The pathophysiology, pathology, and treatment of this syndrome are described. Recognition of this syndrome, and its treatment with relatively minor procedures, can obviate the need for major surgery which might otherwise be undertaken.

[Clinical characteristics of Rett Syndrome].

Science.gov (United States)

Abbes, Zeineb; Bouden, Asma; Halayem, Soumaya; Othman, Sami; Bechir Halayem, Mohamed

2011-10-01

Rett Syndrome is a neurodevelopmental disorder, one of the least commonly occurring autism spectrum disorders (ASD),affecting mainly females. To describe features and molecular specificities of Rett syndrome. To identify articles for this review, a Pubmed search was conducted using the following keywords: Rett syndrome, regression,mutation, stereotypes. This syndrome is characterized by cognitive impairment,communication dysfunction, stereotypic movement disorder, and growth failure. It is generally caused by mutations in the MECP2 gene. Rett Syndrome has a prevalence ranging from 10-20 000 females. Specific treatment is not available, but patients need a careful planning for long-term care, with multidisciplinary approaches.

Cushing syndrome: update on testing.

Science.gov (United States)

Raff, Hershel

2015-03-01

Endogenous hypercortisolism (Cushing syndrome) is one of the most enigmatic diseases in clinical medicine. The diagnosis and differential diagnosis of Cushing syndrome depend on proper laboratory evaluation. In this review, an update is provided on selected critical issues in the diagnosis and differential diagnosis of Cushing syndrome: the use of late-night salivary cortisol in initial diagnosis and for postoperative surveillance, and the use of prolactin measurement to improve the performance of inferior petrosal sinus sampling to distinguish Cushing disease from ectopic adrenocorticotropic hormone (ACTH) syndrome during differential diagnosis of ACTH-dependent Cushing syndrome. Copyright © 2015 Elsevier Inc. All rights reserved.

Bertolotti's syndrome: a case report.

Science.gov (United States)

Mitra, Raj; Carlisle, Mark

2009-01-01

A case report and literature review is presented. To review relevant data for the management of Bertolotti's syndrome and to determine whether the transverse process-ilium articulation may be a pain generator. Bertolotti's syndrome is associated with axial low back pain secondary to arthritic changes; the pain generator in the disorder is unclear. We present a case report of symptomatic Bertolotti's syndrome managed with intra-articular steroid injections. A patient with Bertolotti's syndrome had significant relief of axial pain after steroid injection of the ilium-transverse process articulation. Steroid therapy may be a non-surgical alternative for the treatment of symptomatic Bertolotti's syndrome.

Guillain-Barre Syndrome

Science.gov (United States)

Guillain-Barre syndrome is a rare disorder that causes your immune system to attack your peripheral nervous system (PNS). The PNS ... your brain. No one knows what causes the syndrome. Sometimes it is triggered by an infection, surgery, ...

Polycystic Ovary Syndrome

Science.gov (United States)

Polycystic ovary syndrome (PCOS) happens when a woman's ovaries or adrenal glands produce more male hormones than normal. PCOS causes cysts ( ... PCOS are at higher risk of diabetes, metabolic syndrome, heart disease, and high blood pressure. PCOS is ...

Hermansky-Pudlak syndrome

Directory of Open Access Journals (Sweden)

Preena A

2017-04-01

Full Text Available Hermansky-Pudlak syndrome is a rare autosomal recessive multisystem disease, with oculocutneous albinism, pulmonary fibrosis and bleeding diathesis. Here we report a case of Hermansky-Pudlak syndrome who presented with dyspnea, oculocutaneous albinism and nystagmus.

Chinese restaurant syndrome

Science.gov (United States)

Chinese restaurant syndrome is a set of symptoms that some people have after eating Chinese food. A food additive ... Chinese restaurant syndrome is most often diagnosed based on the symptoms. The health care provider may ask the following ...

Holmes-Adie Syndrome

Science.gov (United States)

... other diseases of the nervous system, such as Sjogren’s syndrome or migraine. It is most often seen in ... other diseases of the nervous system, such as Sjogren’s syndrome or migraine. It is most often seen in ...

Genetics Home Reference: Cockayne syndrome

Science.gov (United States)

... Cockayne syndrome type II is also known as cerebro-oculo-facio-skeletal (COFS) syndrome, and while some ... link) National Institute of Neurological Disorders and Stroke: Cerebro-Oculo-Facio-Skeletal Syndrome Educational Resources (8 links) ...

Stigma in Iranian Down Syndrome

Directory of Open Access Journals (Sweden)

Sahel Hemmati

2010-04-01

Full Text Available Objectives: Stigma is a negative value. Many behaviors are to ward Stigmatized people. Down syndrome is one of conditions with Stigma. The aim of this study is to determine the sources of labeling in iranian Down syndrome. Methods: The View of 105 Down syndrome families concerning stigma were conducted. All of Down syndrome was under 50 years. Results: A fair proportion of Down syndrome families perceived that stigma had a negative effect from social. Causes of stigma are different. Stigma due social interaction, Media and health professionals are significant than others. Discussion: The diagnostic label of Down syndrome may render the person and his family vulnerable to stigmatization. The most causes of stigma were determined therefore, in the destigmatization programs, they must be attended. Stigma must be detected, too.

Loin pain hematuria syndrome.

Science.gov (United States)

Taba Taba Vakili, Sahar; Alam, Tausif; Sollinger, Hans

2014-09-01

Loin pain hematuria syndrome is a rare disease with a prevalence of ∼0.012%. The most prominent clinical features include periods of severe intermittent or persistent unilateral or bilateral loin pain accompanied by either microscopic or gross hematuria. Patients with loin pain hematuria syndrome initially present with hematuria, flank pain, or most often both hematuria and flank pain. Kidney biopsies from patients with loin pain hematuria typically reveal only minor pathologic abnormalities. Further, loin pain hematuria syndrome is not associated with loss of kidney function or urinary tract infections. Loin pain hematuria syndrome-associated hematuria and pain are postulated to be linked to vascular disease of the kidney, coagulopathy, renal vasospasm with microinfarction, hypersensitivity, complement activation on arterioles, venocalyceal fistula, abnormal ureteral peristalsis, and intratubular deposition of calcium or uric acid microcrystals. Many patients with loin pain hematuria syndrome also meet criteria for a somatoform disorder, and analgesic medications, including narcotics, commonly are used to treat loin pain hematuria syndrome-associated pain. Interventional treatments include renal denervation, kidney autotransplantation, and nephrectomy; however, these methods should be used only as a last resort when less invasive measures have been tried unsuccessfully. In this review article, we discuss and critique current clinical practices related to loin pain hematuria syndrome pathophysiology, diagnosis, treatment, and prognosis. Copyright © 2014 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.

Parental Alienation Syndrome

Directory of Open Access Journals (Sweden)

Fuat Torun

2011-09-01

Full Text Available Children who have been programmed by one parent to be alienated from the other parent are commonly seen in the context of child-custody disputes. Its primary manifestation is the child’s campaign of denigration against a parent, a campaign that has no justification. It is said to result from a combination of a programming (brainwashing parent’s indoctrinations and the child’s own contributions to the vilification of the targeted parent. Many evaluators use the term parental alienation syndrome to refer to the disorder engendered in such children. However, there is significant controversy going on about the validity of parental alienation syndrome. The purpose of this article has been to describe and help to differentiate parental alienation syndrome and abuse for mental health professionals working in the field, and discuss the arguments about the validity of this syndrome.

SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome

Science.gov (United States)

Fabre, Alexandre; Charroux, Bernard; Martinez-Vinson, Christine; Roquelaure, Bertrand; Odul, Egritas; Sayar, Ersin; Smith, Hilary; Colomb, Virginie; Andre, Nicolas; Hugot, Jean-Pierre; Goulet, Olivier; Lacoste, Caroline; Sarles, Jacques; Royet, Julien; Levy, Nicolas; Badens, Catherine

2012-01-01

Syndromic diarrhea (or trichohepatoenteric syndrome) is a rare congenital bowel disorder characterized by intractable diarrhea and woolly hair, and it has recently been associated with mutations in TTC37. Although databases report TTC37 as being the human ortholog of Ski3p, one of the yeast Ski-complex cofactors, this lead was not investigated in initial studies. The Ski complex is a multiprotein complex required for exosome-mediated RNA surveillance, including the regulation of normal mRNA and the decay of nonfunctional mRNA. Considering the fact that TTC37 is homologous to Ski3p, we explored a gene encoding another Ski-complex cofactor, SKIV2L, in six individuals presenting with typical syndromic diarrhea without variation in TTC37. We identified mutations in all six individuals. Our results show that mutations in genes encoding cofactors of the human Ski complex cause syndromic diarrhea, establishing a link between defects of the human exosome complex and a Mendelian disease. PMID:22444670

DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.

Science.gov (United States)

Campeau, Philippe M; Hennekam, Raoul C

2014-09-01

DOORS syndrome (Deafness, Onychodystrophy, Osteodystrophy, mental Retardation, Seizures) is characterized mainly by sensorineural deafness, shortened terminal phalanges with small nails of hands and feet, intellectual deficiency, and seizures. Half of the patients with all clinical features have mutations in TBC1D24. We review here the manifestations of patients clinically diagnosed with DOORS syndrome. In this cohort of 32 families (36 patients) we detected 13 individuals from 10 families with TBC1D24 mutations. Subsequent whole exome sequencing in the cohort showed the same de novoSMARCB1 mutation (c.1130G>A), known to cause Coffin-Siris syndrome, in two patients. Distinguishing features include retinal anomalies, Dandy-Walker malformation, scoliosis, rocker bottom feet, respiratory difficulties and absence of seizures, and 2-oxoglutaric aciduria in the patients with the SMARCB1 mutation. We briefly discuss the heterogeneity of the DOORS syndrome phenotype and the differential diagnosis of this condition. © 2014 Wiley Periodicals, Inc.

Nephrotic syndrome: a rare cause of acute coronary syndrome in a child

International Nuclear Information System (INIS)

Khan, J.A.; Shamsi, F.

2012-01-01

Patients with nephrotic syndrome are at risk of developing thrombosis in both veins and arteries. Various manifestations in different organs have been reported. Thrombi in heart seen, associated with multi organ thrombosis have been reported on autopsy earlier, but only once in a living patient with nephrotic syndrome. Here, we report a 13 years old boy with steroid-resistant nephrotic syndrome, who developed an asymptomatic but potentially hazardous large intracardiac thrombus. The child developed nephrotic syndrome at the age of 9 years and had multiple recurrences. At the age of 13 years, he developed myocardial infarction (MI) due to embolism from a large intracardiac thrombus. Later on, he was treated with heparin and warfarin anticoagulation. (author)

Genetics Home Reference: Turner syndrome

Science.gov (United States)

... Email Facebook Twitter Home Health Conditions Turner syndrome Turner syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Turner syndrome is a chromosomal condition that affects development in ...

Genetics Home Reference: Waardenburg syndrome

Science.gov (United States)

... Email Facebook Twitter Home Health Conditions Waardenburg syndrome Waardenburg syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Waardenburg syndrome is a group of genetic conditions that can ...

Genetics Home Reference: Usher syndrome

Science.gov (United States)

... Email Facebook Twitter Home Health Conditions Usher syndrome Usher syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Usher syndrome is a condition characterized by partial or total ...

Genetics Home Reference: Bartter syndrome

Science.gov (United States)

... Email Facebook Twitter Home Health Conditions Bartter syndrome Bartter syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Bartter syndrome is a group of very similar kidney disorders ...

[Obstructive sleep apnea syndrome in the setting of Gorlin-Goltz syndrome].

Science.gov (United States)

Grundig, H; Sinikovic, B; Günther, J; Jungehülsing, M

2013-09-01

Goltz-Gorlin syndrome is a rare autosomal dominant hereditary disease associated with a high rate of spontaneous mutation. Diagnosis is based on clinically defined major and minor criteria. The disease is caused by a gene mutation locating to chromosome 9q22-31. We report on a young Goltz-Gorlin syndrome patient with obstructive sleep apnea syndrome. Due to intolerance to continuous positive airway pressure (CPAP) therapy and in order to avoid a tracheotomy, we opted for an alternative therapy comprising interdisciplinary multi-level surgery.

Noonan′s Syndrome

Directory of Open Access Journals (Sweden)

Yesudian P Devakar

1995-01-01

Full Text Available Noonan’s syndrome is characterized by hypertelorism, webbed neck, curly or wooly hair, congenital heart defects, micrognathia and low set ears. A 15 year old male presented with features of Noonan’s syndrome with hypertelorism, cryptorchidism, low hairline, large and low set ears, curly hair, pulmonary stenosis and lentigenes. This case is presented to alert the physicians towards the occurrence of lentigenes, characteristic facies and pulmonary stenosis in the syndrome. A few hitherto unreported associations like macrothelia and high arched palate were also seen.

Radiology of syndromes

International Nuclear Information System (INIS)

Taybi, H.

1982-01-01

In the course of 20 years, the author has investigated the radiological aspects of many different syndromes. 541 of them are listed in this book, together with their typical X-ray pictures. Congenital deformities, genetic diseases, and acquired diseases with typical combinations of sigs and symptoms are presented with information on how to identify them. Clinical manifestations are briefly characterized, and hereditary aspects are mentioned. Pathological characteristics and names of the syndromes are presented. A bibliography is given for every syndrome for those who intend to deepen their knowledge. (orig./MG) [de

Lance-adams syndrome.

Science.gov (United States)

Shin, Jun-Hwa; Park, Jong Moon; Kim, A Ram; Shin, Hee Suk; Lee, Eun Shin; Oh, Min-Kyun; Yoon, Chul Ho

2012-08-01

It is not common for a patient who survives cardiac arrest to experience significant neurologic impairment such as acute and chronic post-hypoxic myoclonus, known as Lance-Adams syndrome. This syndrome is predominantly characterized by myoclonus that starts days to weeks after cardiopulmonary resuscitation in patients who regained consciousness. Although several cases of LAS were reported, the decisive treatment method has not been established. We report a 43 year old man with Lance-Adams syndrome who showed long-term improvement through treatment with anti-myoclonic agents and participation in a rehabilitation program.

Bullous Wells’ syndrome

Directory of Open Access Journals (Sweden)

Bengu Cevirgen Cemil

2016-01-01

Full Text Available Wells’ syndrome (WS is an uncommon inflammatory skin disease which typically presents single or multiple erythematous and edematous urticarial plaques similar to cellulitis. The lesions may evolve into blue-grey morphea-like lesions and may persist for weeks or months. They ultimately heal without scar. Other clinical presentations reported in literature include papular and nodular and, rarely, bullous eruptions. Previously, bullous Wells’ syndrome was rarely reported in the literature. Herein, we describe a case of a female patient with bullous Wells’ syndrome localized to the upper limbs without any associated disorders.

Burning Mouth Syndrome

Science.gov (United States)

... Care Home Health Info Health Topics Burning Mouth Burning Mouth Syndrome (BMS) is a painful, complex condition often described ... or other symptoms. Read More Publications Cover image Burning Mouth Syndrome Publication files Download Language English PDF — Number of ...

Neuroleptic Malignant Syndrome

Science.gov (United States)

... such as neuroleptic malignant syndrome. Much of this research focuses on finding ways to prevent and treat the disorder. Show More Show Less Search Disorders SEARCH SEARCH Definition Treatment Prognosis Clinical Trials Organizations Publications Definition Neuroleptic malignant syndrome is ...

Noonan syndrome and Turner syndrome patients respond similarly to 4 years' growth-hormone therapy

DEFF Research Database (Denmark)

Lee, Peter A; Ross, Judith L; Pedersen, Birgitte Tønnes

2015-01-01

BACKGROUND: Turner syndrome (TS) and Noonan syndrome (NS) are distinct syndromes associated with short stature and other similar phenotypic features. We compared the responses to growth hormone (GH) therapy of TS and NS patients enrolled in the NordiNet® International Outcome Study (IOS...

[Evaluation of the primary caregiver syndrome when caring for elderly adults with immobility syndrome].

Science.gov (United States)

Morales-Cariño, Elizabeth María; Jiménez-Herrera, Blanca L; Serrano-Miranda, Tirzo A

2012-01-01

Caregiver syndrome may develop in caregivers of elderly adults. To evaluate the repercussions of the immobility syndrome present in elderly adults on their primary caregivers as well as to determine the clinical and socio-demographic characteristics of the elderly adult and caregiver. The study population included patients over 65 recruited in the Geriatric Rehabilitation Department, with the diagnosis of immobility syndrome and that required a primary caregiver. A questionnaire including socio-demographic variables was applied to all patients and caregivers, and the Zarit scale was also applied to caregivers in order to determine the presence of caregiver syndrome. Analysis was performed with descriptive statistical methods; Student's t test and Fisher's test were used for comparisons between strata. 75 patients and their caregivers were evaluated; patient average age was 75.9 years and 85.3% were female. 50.7% (38 cases) had mild immobility. The average caregiver's age was 50.6%, 70.7% were female and 57.3% were the patient's daughter. Caregiver syndrome was detected in 60% of them: 57.7% had mild symptoms and in 42.2%, symptoms were moderate to severe. No statistically significant association was established between the development of caregiver syndrome and the degree of patient immobility. Caregivers of patients with immobility syndrome are at high risk of developing caregiver syndrome, thus underscoring the need to include primary caregiver support programs.

Gilles de la Tourette's syndrome in a patient with 47(XXX syndrome: a case report

Directory of Open Access Journals (Sweden)

Chiappedi Matteo

2011-11-01

Full Text Available Abstract Introduction To the best of our knowledge, this is the first report of a comorbidity between Gilles de la Tourette's syndrome and 47 (XXX syndrome. The clinical picture of Gilles de la Tourette's Syndrome is well described, while 47 (XXX syndrome is much more rare and has a broader spectrum of possible phenotypic presentations. Case presentation An Italian Caucasian girl was referred at the age of 11 to our Rehabilitation Center for anxiety and learning difficulties. The girl had already been diagnosed as having 47(XXX syndrome; she had some rather typical features of the chromosomal abnormality, but she also showed a high level of anxiety and the presence of motor and vocal tics. When an accurate history was taken, a diagnosis of Gilles de la Tourette's Syndrome emerged. Conclusions The possible interaction between peculiar features of these two syndromes in terms of neuropsychological and affective functioning is both interesting for the specific case and to hypothesize models of rehabilitation for patients with one or both syndromes. Executive functions are specifically reduced in both syndromes, therefore it might be hard to discriminate the contribution of each one to the general impairment; the same applies to anxiety. Moreover, mental retardation (with a significantly lower verbal cognitive functioning poses relevant problems when suggesting cognitive behavioral or psychoeducational rehabilitative approaches.

Polycystic ovary syndrome: a common reproductive syndrome with long-term metabolic consequences.

Science.gov (United States)

Yau, T Tl; Ng, N Yh; Cheung, L P; Ma, R Cw

2017-12-01

Polycystic ovary syndrome is the most common endocrine disorder among women of reproductive age. Although traditionally viewed as a reproductive disorder, there is increasing appreciation that it is associated with significantly increased risk of cardiometabolic disorders. Women with polycystic ovary syndrome may present to clinicians via a variety of different routes and symptoms. Although the impact on reproduction predominates during the reproductive years, the increased cardiometabolic problems are likely to become more important at later stages of the life course. Women with polycystic ovary syndrome have an approximately 2- to 5-fold increased risk of dysglycaemia or type 2 diabetes, and hence regular screening with oral glucose tolerance test is warranted. Although the diagnostic criteria for polycystic ovary syndrome are still evolving and are undergoing revision, the diagnosis is increasingly focused on the presence of hyperandrogenism, with the significance of polycystic ovarian morphology in the absence of associated hyperandrogenism or anovulation remaining uncertain. The management of women with polycystic ovary syndrome should focus on the specific needs of the individual, and may change according to different stages of the life course. In view of the clinical manifestations of the condition, there is recent debate about whether the current name is misleading, and whether the condition should be renamed as metabolic reproductive syndrome.

Hypertension og det metaboliske syndrom

DEFF Research Database (Denmark)

Olsen, Michael Hecht; Jeppesen, Jørgen; Larsen, Mogens Lytken

2009-01-01

The metabolic syndrome is a relatively prevalent condition characterized by co-existence of several metabolic and cardiovascular risk factors including hypertension. Patients with hypertension have an increased risk of developing the metabolic syndrome which, in turn, increases the cardiovascular...... syndrome is of clinical importance as it makes the treating physician test for other elements of the syndrome in patients with one of the elements, e.g. hypertension. Udgivelsesdato: 2009-Jun...

Hypertension og det metaboliske syndrom

DEFF Research Database (Denmark)

Olsen, Michael; Jeppesen, Jørgen; Larsen, Mogens

2009-01-01

The metabolic syndrome is a relatively prevalent condition characterized by co-existence of several metabolic and cardiovascular risk factors including hypertension. Patients with hypertension have an increased risk of developing the metabolic syndrome which, in turn, increases the cardiovascular...... syndrome is of clinical importance as it makes the treating physician test for other elements of the syndrome in patients with one of the elements, e.g. hypertension. Udgivelsesdato: 2009-Jun-15...

Epilepsy in KCNH1-related syndromes

NARCIS (Netherlands)

Mastrangelo, Mario; Scheffer, Ingrid E.; Bramswig, Nuria C.; Nair, Lal. D. V.; Myers, Candace T.; Dentici, Maria Lisa; Korenke, Georg C.; Schoch, Kelly; Campeau, Philippe M.; White, Susan M.; Shashi, Vandana; Kansagra, Sujay; Van Essen, Anthonie J.; Leuzzi, Vincenzo

Aim. KCNH1 mutations have been identified in patients with Zimmermann-Laband syndrome and Temple-Baraitser syndrome, as well as patients with uncharacterized syndromes with intellectual disability and overlapping features. These syndromes include dysmorphic facial features, nail hypo/aplasia, thumb

Beckwith-Wiedemann syndrome

Science.gov (United States)

... most common tumors in children with this syndrome. Causes Beckwith-Wiedemann syndrome is caused by a defect ... Fanaroff AA, Walsh MC, eds. Fanaroff and Martin's Neonatal-Perinatal Medicine . 10th ed. ... MA. Hypoglycemia. In: Kliegman RM, Stanton BF, St. Geme JW, ...

Post-Polio Syndrome

Science.gov (United States)

... You are here Home » Disorders » All Disorders Post-Polio Syndrome Information Page Post-Polio Syndrome Information Page What research is being done? ... behavior of motor neurons many years after a polio attack. Others are looking at the mechanisms of ...

Cardiac involvement in antiphospholipid syndrome associated with Sneddon syndrome: a challenging diagnosis.

Science.gov (United States)

Faustino, Ana; Paiva, Luís; Morgadinho, Ana; Trigo, Emília; Botelho, Ana; Costa, Marco; Leitão-Marques, António

2014-02-01

Sneddon syndrome is a rare clinical entity characterized by the association of ischemic cerebrovascular disease and livedo reticularis. The authors report a case of stroke and myocardial infarction in a 39-year-old man with Sneddon syndrome and antiphospholipid syndrome who subsequently met some criteria for systemic lupus erythematosus, highlighting the complexity of cardiovascular involvement in systemic diseases. Copyright © 2013 Sociedade Portuguesa de Cardiologia. Published by Elsevier España. All rights reserved.

Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndrome.

Science.gov (United States)

Couser, Natario L; Marchuk, Daniel S; Smith, Laurie D; Arreola, Alexandra; Kaiser-Rogers, Kathleen A; Muenzer, Joseph; Pandya, Arti; Gucsavas-Calikoglu, Muge; Powell, Cynthia M

2017-10-01

Mitochondrial DNA depletion syndrome 5 (MIM 612073) is a rare autosomal recessive disorder caused by homozygous or compound heterozygous pathogenic variants in the beta subunit of the succinate-CoA ligase gene located within the 13q14 band. We describe two siblings of Hispanic descent with SUCLA2-related mitochondrial depletion syndrome (encephalomyopathic form with methylmalonic aciduria); the older sibling is additionally affected with trisomy 21. SUCLA2 sequencing identified homozygous p.Arg284Cys pathogenic variants in both patients. This mutation has previously been identified in four individuals of Italian and Caucasian descent. The older sibling with concomitant disease has a more severe phenotype than what is typically described in patients with either SUCLA2-related mitochondrial depletion syndrome or Down syndrome alone. The younger sibling, who has a normal female chromosome complement, is significantly less affected compared to her brother. While the clinical and molecular findings have been reported in about 50 patients affected with a deficiency of succinate-CoA ligase caused by pathogenic variants in SUCLA2, this report describes the first known individual affected with both a mitochondrial depletion syndrome and trisomy 21. © 2017 Wiley Periodicals, Inc.

Nakalanga Syndrome: Clinical Characteristics, Potential Causes, and Its Relationship with Recently Described Nodding Syndrome.

Directory of Open Access Journals (Sweden)

Kathrin Föger

2017-02-01

Full Text Available Nakalanga syndrome is a condition that was described in Uganda and various other African countries decades ago. Its features include growth retardation, physical deformities, endocrine dysfunction, mental impairment, and epilepsy, amongst others. Its cause remains obscure. Nodding syndrome is a neurological disorder with some features in common with Nakalanga syndrome, which has been described mainly in Uganda, South Sudan, and Tanzania. It has been considered an encephalopathy affecting children who, besides head nodding attacks, can also present with stunted growth, delayed puberty, and mental impairment, amongst other symptoms. Despite active research over the last years on the pathogenesis of Nodding syndrome, to date, no convincing single cause of Nodding syndrome has been reported. In this review, by means of a thorough literature search, we compare features of both disorders. We conclude that Nakalanga and Nodding syndromes are closely related and may represent the same condition. Our findings may provide new directions in research on the cause underlying this neurological disorder.

Atypical presentations of Wolframs syndrome

Directory of Open Access Journals (Sweden)

S Saran

2012-01-01

Full Text Available Background: Wolfram syndrome is a rare hereditary or sporadic neurodegenerative disorder also known as DIDMOAD. The classically described presentation is of insulin-dependent diabetes, followed by optic atrophy, central diabetes insipidus, and sensory neural deafness. Also included are less well-described presentations of Wolframs syndrome. We here present three cases of atypical presentation of this syndrome. Case 1: A 15-year-old boy with insulin-dependent diabetes was presented for evaluation of depressive symptoms associated with suicidal tendency. Neuropsychiatric manifestations are described with Wolframs syndrome, and wolframin gene, in recessive inheritance, is associated with psychiatric illnesses without other manifestations of Wolframs syndrome. Case 2: A 17-year-old diabetic boy on insulin with good control of blood sugar presented for evaluation of delayed puberty. Central hypogonadism and other anterior pituitary hormone dysfunctions are the less publicized hormone dysfunctions in Wolframs syndrome. Case 3: A 23-year-old female who was on insulin for diabetes for the past 14 years, got admitted for evaluation of sudden loss of vision. This patient had developed a vitreous hemorrhage and, on evaluation, was found to have optic atrophy, sensory neural hearing loss, and diabetes insipidus, and presented differently from the gradual loss of vision described in Wolframs syndrome. Conclusion: Wolframs syndrome being a multisystem degenerative disorder can have myriad other manifestations than the classically described features. Neuropsychiatric manifestations, depression with suicidal risk, central hypogonadism, and secondary adrenal insufficiency are among the less well-described manifestations of this syndrome.

DRESS syndrome with thrombotic microangiopathy revealing a Noonan syndrome: Case report.

Science.gov (United States)

Bobot, Mickaël; Coen, Matteo; Simon, Clémentine; Daniel, Laurent; Habib, Gilbert; Serratrice, Jacques

2018-04-01

The life-threatening drug rash with eosinophilia and systemic symptoms (DRESS) syndrome occurs most commonly after exposure to drugs, clinical features mimic those found with other serious systemic disorders. It is rarely associated with thrombotic microangiopathy. We describe the unique case of a 44-year-old man who simultaneously experienced DRESS syndrome with thrombotic microangiopathy (TMA) after a 5 days treatment with fluindione. Clinical evaluation leads to the discovery of an underlying lymphangiomatosis, due to a Noonan syndrome. The anticoagulant was withdrawn, and corticosteroids (1 mg/kg/day) and acenocoumarol were started. Clinical improvement ensued. At follow-up the patient is well. The association of DRESS with TMA is a rare condition; we believe that the presence of the underlying Noonan syndrome could have been the trigger. Moreover, we speculate about the potential interrelations between these entities.

Lynch Syndrome: An Updated Review

Directory of Open Access Journals (Sweden)

Rishabh Sehgal

2014-06-01

Full Text Available Lynch syndrome is one of the most common cancer susceptibility syndromes. Individuals with Lynch syndrome have a 50%–70% lifetime risk of colorectal cancer, 40%–60% risk of endometrial cancer, and increased risks of several other malignancies. It is caused by germline mutations in the DNA mismatch repair genes MLH1, MSH2, MSH6 or PMS2. In a subset of patients, Lynch syndrome is caused by 3' end deletions of the EPCAM gene, which can lead to epigenetic silencing of the closely linked MSH2. Relying solely on age and family history based criteria inaccurately identifies eligibility for Lynch syndrome screening or testing in 25%–70% of cases. There has been a steady increase in Lynch syndrome tumor screening programs since 2000 and institutions are rapidly adopting a universal screening approach to identify the patients that would benefit from genetic counseling and germline testing. These include microsatellite instability testing and/or immunohistochemical testing to identify tumor mismatch repair deficiencies. However, universal screening is not standard across institutions. Furthermore, variation exists regarding the optimum method for tracking and disclosing results. In this review, we summarize traditional screening criteria for Lynch syndrome, and discuss universal screening methods. International guidelines are necessary to standardize Lynch syndrome high-risk clinics.

Audiological findings in Noonan syndrome.

Science.gov (United States)

Tokgoz-Yilmaz, Suna; Turkyilmaz, Meral Didem; Cengiz, Filiz Basak; Sjöstrand, Alev Pektas; Kose, Serdal Kenan; Tekin, Mustafa

2016-10-01

The aim of this study was to evaluate audiologic properties of patients with Noonan syndrome and compare these findings with those of unaffected peers. The study included 17 children with Noonan syndrome and 20 typically developing children without Noonan syndrome. Pure tone and speech audiometry, immitancemetric measurement, otoacoustic emissions measurement and auditory brainstem response tests were applied to all (n = 37) children. Hearing thresholds of children with Noonan syndrome were higher (poorer) than those observed unaffected peers, while the hearing sensitivity of the both groups were normal limits (p = 0.013 for right, p = 0.031 for left ear). Transient evoked otoacoustic emissions amplitudes of the children with Noonan syndrome were lower than the children without Noonan syndrome (p = 0.005 for right, p = 0.002 for left ear). Middle ear pressures and auditory brainstem response values were within normal limits and there was no difference between the two groups (p > 0.05). General benefit of the present study is to characterize the audiologic findings of children with Noonan syndrome, which is beneficial in clinics evaluating children with Noonan syndrome. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Cushing's syndrome in pregnancy.

Science.gov (United States)

Nassi, Rossella; Ladu, Cristina; Vezzosi, Chiara; Mannelli, Massimo

2015-02-01

Cushing's syndrome is a rare condition in the general population and is even less common during pregnancy with only a few cases reported in literature. The diagnosis of Cushing's syndrome may be difficult during pregnancy because the typical features of the disorder and pregnancy may overlap. However, Cushing's syndrome results in increased fetal and maternal complications, and diagnosis and treatment are critical. This report describes a case of 26-year-old female at the 19th week of pregnancy with symptoms and signs of hypercortisolism, where ACTH-independent Cushing's syndrome was diagnosed and treated by robotic laparoscopic adrenalectomy at the 21th week of gestation.

[Asthenic syndrome in patients with burnout syndrome].

Science.gov (United States)

Chutko, L S; Surushkina, S Iu; Rozhkova, A V; Nikishena, I S; Iakovenko, E A

2013-01-01

The authors present the results of a survey of 103 patients aged 25 to 45 years with burnout syndrom. The results showed that most patients with the syndrome of burnout have clinical manifestations of asthenia, varying degrees of severity. According to psychological and psychophysiological examination in this group of patients were found attention and memory dysfunction. This study evaluated the efficacy of memoplant in the treatment of this pathology. The high efficiency of memoplant (improvement in 69.7% of cases) was detected, confirmed by the data of the clinical, psychological and neuropsychological research.

Shaken Baby Syndrome

Science.gov (United States)

... baby syndrome. Information from the National Library of Medicine’s MedlinePlus Child Abuse × What research is being done? The National ... baby syndrome. Information from the National Library of Medicine’s MedlinePlus Child Abuse See More About Research The National Institute ...

Extracolonic Manifestations of Lynch Syndrome

OpenAIRE

Bansidhar, Brian J.

2012-01-01

Lynch syndrome has classically been defined by several predominant malignancies. Initial clinical criteria for diagnosis of Lynch syndrome would miss 40% of affected individuals. As time has passed, our understanding of Lynch syndrome has evolved and will continue to do so. The number of cancer types that are included in the Lynch phenotype is growing. This has allowed clinicians to redefine Lynch syndrome, at risk populations, screening needs, and diagnostic criteria. Inclusion of extracolon...

Colobomata associated with Noonan's syndrome.

OpenAIRE

Kleanthous, L.; Cruz, D.; D'Graham, E.; Efthimiou, J.

1987-01-01

A patient with Noonan's syndrome and fundal colobomata in both eyes is described. To our knowledge, this is the first report of the association of colobomata with Noonan's syndrome. Although the patient had poor sight since early childhood and dyspnea on exertion as a teenager, the diagnosis of Noonan's syndrome was not made until early adulthood. We hope this report will encourage recognition of this syndrome and its implications at an earlier stage.

Waardenburg Syndrome: A Case Report

OpenAIRE

Hayrullah Alp; Esma Alp

2010-01-01

Introduction: Auditory-pigmentary syndromes are a group of diseases that effect the skin, hair, eyes and the cochlea. Waardenburg syndrome is one of the members of these autosomal dominantly inherited diseases. Waardenburg syndrome is characterized by white forelock, congenital sensorineural hearing loss, hypopigmented skin and anomalies of the intraocular tissues. How ever all these diagnostic features may not be seen in all patient. In addition, there are four subtypes of the syndrome in ea...

Syndrome in question: Gorlin-Goltz syndrome.

Science.gov (United States)

Ribeiro, Pauline Lyrio; Souza, João Basílio de; Abreu, Karina Demoner de; Brezinscki, Marisa Simon; Pignaton, Christine Chambo

2016-01-01

The Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an uncommon disorder caused by a mutation in Patched, tumor suppressor gene. It is mainly characterized by numerous early onset basal cell carcinomas, odontogenic cysts of jaw and skeletal abnormalities. Due to the wide clinical spectrum, treatment and management of its modalities are not standardized and should be individualized and monitored by a multidisciplinary team. We report a typical case in a 30-year-old man with multiple basal cell carcinomas, keratotic pits of palmar creases and bifid ribs, with a history of several corrective surgeries for keratocystic odontogenic tumors, among other lesions characteristic of the syndrome.

Guide to Understanding Pfeiffer Syndrome

Science.gov (United States)

... syndrome occurs more often in children with older fathers. if I have pfeiffer syndrome what are the odds of passing it to my children? p feiffer syndrome is a rare, autosomal dominant disorder, meaning it requires only one parent to ...

Syndrome de Smith-Lemli-Opitz

DEFF Research Database (Denmark)

Pelluard-Nehmé, Fanny; Carles, Dominique; Alberti, Eve Marie

2005-01-01

SLO syndrome is an autosomal recessive condition with multiple malformations. This syndrome is ascribed to deficiency of 7 dehydrocholesterol reductase, an enzyme in the cholesterol biosynthetic pathway. The characteristics of this syndrome are facial anomalies, syndactyly of the second and third...