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Sample records for pseudoexfoliation syndrome pex

  1. Plasma homocysteine, folic acid, and vitamin B₁₂ levels in patients with pseudoexfoliation syndrome, pseudoexfoliation glaucoma, and normotensive glaucoma

    National Research Council Canada - National Science Library

    Türkcü, Fatih Mehmet; Köz, Ozlem Gürbüz; Yarangümeli, Alper; Oner, Veysi; Kural, Gülcan

    2013-01-01

    ...), pseudoexfoliation syndrome (PEXS), PEXS plus normotensive glaucoma (NTG). In total, 24 patients with PEXG, 35 patients with PEXS, 18 patients with PEXS plus NTG, and 35 control subjects were enrolled into study...

  2. Selenium and pseudoexfoliation syndrome.

    Science.gov (United States)

    Yilmaz, Ayça; Ayaz, Lokman; Tamer, Lülüfer

    2011-02-01

    To investigate the levels of selenium (Se), an essential trace element, in aqueous humor, conjunctival specimens, and serum of patients with pseudoexfoliation (PEX) syndrome and control subjects; and to determine the role of Se in the development and pathogenesis of PEX syndrome. A prospective case-control study. Twenty-seven cataract patients with PEX syndrome and 20 age-matched cataract patients without PEX syndrome were enrolled in this institutional study. Patients with ophthalmic conditions other than PEX and conditions that may influence Se levels were excluded. During cataract surgeries, aqueous humor, conjunctival specimens, and serum were collected in both groups. Selenium levels of all samples were measured by using atomic absorption spectrophotometer. The mean Se levels in aqueous humor of patients with PEX syndrome (50.96 ± 23.79 μg/L) were significantly lower than the control group (77.85 ± 19.21 μg/L) (P < .001). The mean Se levels in conjunctival specimens of patients with PEX syndrome (4.04 ± 1.44 μg/mg) were significantly lower than the control group (7.19 ± 2.00 μg/mg) (P < .001), as well. The mean Se levels in serum of patients with PEX syndrome (115.25 ± 25.20 μg/L) were lower than the control group (124.25 ± 14.40 μg/L), but this was not statistically significant (P = .325). Reduced levels of Se in aqueous humor, conjunctival specimens, and serum of patients with PEX may support the role of impairment in antioxidant defense system in the pathogenesis of PEX syndrome. Copyright © 2011 Elsevier Inc. All rights reserved.

  3. Evaluation of the anterior chamber angle in pseudoexfoliation syndrome.

    Science.gov (United States)

    Iwanejko, Małgorzata; Turno-Kręcicka, Anna; Tomczyk-Socha, Martyna; Kaczorowski, Kamil; Grzybowski, Andrzej; Misiuk-Hojło, Marta

    2017-08-01

    Pseudoexfoliation syndrome (PEX) is the most frequently identifiable cause of secondary open-angle glaucoma, known as pseudoexfoliation glaucoma. The exact pathophysiology and etiology of PEX and associated glaucoma remains obscure. The purpose of this study was to determine the differences in the morphology of the anterior chamber angle in people with pseudoexfoliation syndrome and pseudoexfoliation glaucoma compared to a control group. We also evaluated the correlation between intraocular pressure (IOP) and pigmentation of the angle with the amount of exfoliated material in the anterior segment. The study group was composed of 155 eyes from 103 patients aged between 43 and 86 years. Each patient underwent a complete ophthalmological examination. Some difference was found in intraocular pressure between the PEX group and the control group and between the pseudoexfoliation glaucoma group and the control group, but no significant difference was found between the 2 study groups. There was a significant difference in the incidence of some degree of pigmentation in the anterior chamber angle and no difference in the widths of the angle between each group. A significant positive relationship was observed between intraocular pressure and the degree of pigmentation of the anterior chamber angle in both the PEX group and the pseudoexfoliation glaucoma group. The results of this study indicate that the amount of pigmentation and exfoliation material in the anterior segment significantly correlates with the level of IOP and possibly with the degree of trabecular dysfunction. It seems that for clear identification of PEX and pseudoexfoliation glaucoma factors, clinical assessment appears to be insufficient.

  4. Is pseudoexfoliation syndrome associated with coronary artery disease?

    Science.gov (United States)

    Emiroglu, Mehmet Yunus; Coskun, Erol; Karapinar, Hekim; Capkın, Musa; Kaya, Zekeriya; Kaya, Hasan; Akcakoyun, Mustafa; Kargin, Ramazan; Simsek, Zeki; Acar, Göksel; Aung, Soe Moe; Pala, Selcuk; Özdemir, Burak; Esen, Ali Metin; Kırma, Cevat

    2010-01-01

    Background: Pseudoexfoliation syndrome (PEX) is recognised by chronic deposition of abnormal pseudoexfoliation material on anterior segment structures of the eye, especially the anterior lens capsule. In recent years, several studies have shown the presence of vascular, cardiac and other organ pseudoexfoliative material in patients with ocular pseudoexfoliation. Aims: The purpose of this study is to determine whether an association exists between ocular pseudoexfoliation and coronary artery disease, aortic aneurysms and peripheric vascular disease. Patients and Methods: 490 patients who underwent coronary angiography (CAG) at Kosuyolu Cardiovascula Research and Training Hospital were included in the study. Patients were evaluated for conventional risk factors such as age, sex, family history, hypertension, diabetes, dislipidemia and smoking. Detailed eye examinations including evaluation of lens were done in all patients. The presence of PEX material in the anterior segment was best appreciated by slit lamp after pupillary dilation. The patients were divided into two groups according to the presence of PEX, and compared for the presence of CAD and other risk factors. Results: CAD was present in 387 patients. 103 patients had normal coronary angiography. 20 (5.2 %) of CAD patients and 4 (3.9%) of normal CAG patients were found to have PEX (p>0.05). There was no significant relationship between CAD and the presence of PEX (p>0.05). When patients were grouped according to the presence of PEX, only age was significantly different between the two groups (r: 0.25, p<0.001). Conclusion: There is no significant relationship between the presence of PEX and CAD. Further studies in larger scales with elderly population may be more valuable. PMID:22558552

  5. Corneal biomechanical properties of patients with pseudoexfoliation syndrome.

    Science.gov (United States)

    Yenerel, Nursal Melda; Gorgun, Ebru; Kucumen, Raciha Beril; Oral, Deniz; Dinc, Umut Asl; Ciftci, Ferda

    2011-09-01

    To assess the corneal biomechanical properties of patients with pseudoexfoliation syndrome (PEX syndrome). Fifty-two eyes of 52 patients (27 unilateral and 25 bilateral) and 42 eyes of 42 age-matched control subjects were enrolled in the study. Metrics of corneal biomechanical properties, including corneal hysteresis (CH) and corneal resistance factor (CRF), were measured with the ocular response analyzer (ORA). The ORA also determined the values of Goldmann-correlated intraocular pressure and corneal-compensated intraocular pressure. Central corneal thickness (CCT) was measured by the ORA integrated handheld ultrasonic pachymeter. The values recorded by the ORA were compared between eyes with PEX syndrome and those without PEX syndrome. Eyes with unilateral PEX syndrome and fellow eyes without PEX syndrome were also compared. The mean CH and CRF of all eyes with PEX syndrome were significantly lower than those of control eyes (P corneal-compensated intraocular pressure nor Goldmann-correlated intraocular pressure showed a statistically significant difference in both the groups. Mean CCT values also did not show significant difference. Comparison of the unilateral eyes with PEX syndrome with the apparently normal fellow eyes revealed no significant difference between the mean CCT, mean CH, and mean CRF values (P > 0.05). However, the mean corneal-compensated intraocular pressure and Goldmann-correlated intraocular pressure were relatively higher in the PEX syndrome eye (P 0.05). The CH and CRF decrease in both unilateral and bilateral PEX syndrome suggested that PEX syndrome has a weakening effect on corneal biomechanical properties. Moreover, in subjects with clinically unilateral PEX syndrome, these properties were closer to eyes with PEX syndrome than to normal control eyes.

  6. [Morphometric changes of corneal endothelial cells in pseudoexfoliation syndrome and pseudoexfoliation glaucoma].

    Science.gov (United States)

    de Juan-Marcos, L; Cabrillo-Estévez, L; Escudero-Domínguez, F A; Sánchez-Jara, A; Hernández-Galilea, E

    2013-11-01

    To evaluate the corneal endothelial morphometry and central corneal thickness (CCT) in pseudoexfoliative (PEX) eyes with and without glaucoma and to compare with normal eyes and eyes with primary open-angle glaucoma (POAG). A total of 166 patients were included in this study: 36 eyes with pseudoexfoliation syndrome (PXS), 30 eyes with pseudoexfoliation glaucoma (PXG), 40 eyes with POAG, and 60 normal eyes. Corneal endothelial cell density (ECD), coefficient of variation (CV) in cell size, and percentage of hexagonal cells, were measured using a non-contact specular microscope, whereas CCT was measured with an ultrasonic pachymeter. ECD and percentage of hexagonal cells were lower in PEX groups and in the POAG group compared with normal eyes, while the CV in cell size was greater. There was a tendency for greater cell loss and morphological abnormalities of the corneal endothelial cells in PXG eyes compared to PXS eyes, when all pseudoexfoliative eyes were analyzed together. Changes in endothelial cells increased with age. There were no significant differences in mean CCT between the four groups. Endothelial cell density is significantly decreased, and pleomorphism and polymegathism of cells are increased in PEX eyes, particularly when intraocular pressure is high. Copyright © 2012 Sociedad Española de Oftalmología. Published by Elsevier Espana. All rights reserved.

  7. Corneal biomechanical comparison of pseudoexfoliation syndrome, pseudoexfoliative glaucoma and healthy subjects.

    Science.gov (United States)

    Yazgan, Serpil; Celik, Ugur; Alagöz, Neşe; Taş, Mehmet

    2015-05-01

    To evaluate the differences in corneal biomechanical properties between healthy subjects and patients with pseudoexfoliation syndrome (PEX) and pseudoexfoliative glaucoma (PEXG) using the ocular response analyzer (ORA). One hundred eighteen eyes of 45 healthy, 43 PEX and 30 PEXG eyes were included in to the study. Corneal biomechanical parameters measurements were obtained using ORA. The main parameters assessed were corneal hysteresis (CH), corneal resistance factor (CRF), Goldmann-correlated pressure measurement (IOPg) and corneal compensated intraocular pressure (IOPcc). Ultrasound pachymetry was used for measurement of central corneal thickness (CCT). In healthy subjects, PEX and PEXG eyes' mean CH values were 10.3 ± 1.4, 8.2 ± 1.4 and 6.8 ± 1.7 mmHg, respectively. The difference in mean CH between the PEXG and other two groups were statistically significant (p corneal biomechanical features of subjects with PEX were found to be changed as compared to healthy controls. In these patients; CH, CRF and CCT were decreased which was more obvious in patients with PEXG in comparison to PEX patients.

  8. The Effect of Pseudoexfoliation Syndrome on the Retinal Nerve Fiber Layer and Choroid Thickness.

    Science.gov (United States)

    Demircan, Süleyman; Yılmaz, Uğur; Küçük, Erkut; Ulusoy, M Döndü; Ataş, Mustafa; Gülhan, Ahmet; Zararsız, Gökmen

    2017-01-01

    To investigate thickness of the retinal nerve fiber layer (RNFL) and choroid thickness in patients with pseudoexfoliation syndrome (PEX) and pseudoexfoliation glaucoma (PXG) compared to healthy volunteers. This cross-sectional, prospective study included 43 patients with PXG, 45 patients with PEX syndrome, and 48 healthy volunteers. The RNFL and macular thickness were analyzed with standard OCT protocol while choroidal thickness was analyzed with EDI protocol in all subjects. The RNFL thickness was higher in the PEX and control groups compared to the PXG group (pthickness was significantly higher in the control group compared to the PXG and PEX groups (p<0.05). No significant difference was detected between the both groups. PEX might weaken choroid circulation by accumulating in choroid vessels. The thinner choroid in the PXG group suggests that ischemia affects the duration of PEX and has a role in the development of glaucoma.

  9. Evaluation of the Endothelial Cell Density and the Central Corneal Thickness in Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma

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    Bożydar T. Tomaszewski

    2014-01-01

    Full Text Available Purpose. Evaluation of central corneal thickness (CCT and endothelial cell density (ECD in patients with senile cataract and coexisting pseudoexfoliation (PEX syndrome with glaucoma (PEXG and without glaucoma using specular microscopy. Participants and Methods. The study included 122 patients (217 eyes. In this group of patients we identified 133 eyes with PEX syndrome (65 with glaucoma, 68 without glaucoma and 84 eyes without PEX syndrome. ECD and CCT were measured in each eye by specular microscopy. Results. ECD in eyes with PEX syndrome without glaucoma (2297 ± 359 cell/mm2 and in eyes with PEXG (2241 ± 363 cell/mm2 was lower than in the control group (2503 ± 262 cell/mm2 (P<0.001. CCT in eyes with PEXG (508.2 ± 32.6 μm was thinner than in eyes with PEX syndrome without glaucoma (529.7 ± 30.3 μm and control group (527.7 ± 29.4 μm (P<0.001. Conclusions. This research shows that in eyes with PEX syndrome, both with and without glaucoma, ECD was statistically significantly lower than in the control group. In patients with PEXG, CCT was statistically significantly thinner than in the PEX syndrome and control group.

  10. Update on pseudoexfoliation syndrome pathogenesis and associations with intraocular pressure, glaucoma and systemic diseases.

    Science.gov (United States)

    Anastasopoulos, Eleftherios; Founti, Panayiota; Topouzis, Fotis

    2015-03-01

    Pseudoexfoliation (PEX) syndrome is a common age-related disorder affecting intraocular and extraocular tissues. This review focuses on recent publications related with the pathogenesis and associations of PEX syndrome with intraocular pressure (IOP), glaucoma and systemic diseases. In PEX tissues, expression of lysyl oxidase-like 1 (LOXL1) was found to be markedly dysregulated. This may adversely affect elastin metabolism and lead to elastotic alteration in tissues such as lamina cribrosa. There is increasing evidence that cellular stress conditions and low-grade chronic inflammatory processes are involved in the pathogenesis of PEX. Although there is an increased risk for glaucoma development in patients with PEX and ocular hypertension as compared with non-PEX patients with ocular hypertension, LOXL1 single nucleotide polymorphisms were not associated with intraocular pressure (IOP) differences. Lack of association of PEX with all-cause mortality or dementia has been reported recently. The association with vascular diseases is not consistent among different studies. Despite the high prevalence of the LOXL1 variants in the general population, a much lower proportion of the population develops PEX, suggesting that in addition to LOXL1, other genetic, epigenetic and environmental factors may contribute to the development of PEX. Also, LOXL1 cannot help to identify those with PEX at increased risk for glaucoma development. Increased risk for glaucoma development in PEX patients who present with increased IOP may be related to other factors beyond IOP, contributing to increased vulnerability of the optic nerve to glaucoma development in the presence of PEX.

  11. Association between polymorphisms in lysyl oxidase-like 1 and susceptibility to pseudoexfoliation syndrome and pseudoexfoliation glaucoma.

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    Jun-Zhou Tang

    Full Text Available The present knowledge on the association of single nucleotide polymorphisms (SNPs of lysyl oxidase-like 1 (LOXL1 with pseudoexfoliation syndrome (PEXS and pseudoexfoliation glaucoma (PEXG is controversial and inconclusive. This meta-analysis sought to derive a more precise estimation of the effects of LOXL1 SNP loci (rs1048661, rs3825942, and rs2165241 on PEXS/PEXG. Literature searches were conducted on the PubMed, EMBASE, ISI Web of Science, and Cochrane Library databases through October 2013. Twelve studies describing 1810 cases and 1790 controls met the inclusion criteria. The strengths of the associations found through the meta-analysis were assessed with pooled odds ratios and their 95% confidence intervals (CI. A meta-regression analysis was also used to examine the influence of the study and population characteristics. The results indicated that rs1048661 TT carriers had 92.1% and 40.4% less risk of developing PEXS/PEXG than did the controls in the Caucasian and Asian populations, respectively. Carriers of rs3825942 AA or rs2165241 CC also had significantly less PEXS/PEXG susceptibility than did the non-carriers. Meta-regression showed that in Caucasians, the male proportion (slope: 0.272; 95% CI: 0.167-0.376; P = 0.0001 and mean age (slope: 0.796; 95% CI: 0.375-1.217; P = 0.0002 of the PEXS/PEXG subjects correlated positively with the effect of rs3825942 on PEXS/PEXG susceptibility. The meta-analysis suggested that LOXL1 rs1048661 TT, rs3825942 AA, and rs2165241 CC were associated with a reduced risk of developing PEXS/PEXG.

  12. Corneal alterations associated with pseudoexfoliation syndrome and glaucoma: A literature review

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    Joel R Palko

    2017-01-01

    Full Text Available A systematic literature review was performed evaluating articles examining the effects of pseudoexfoliation syndrome (PEX and glaucoma (PEXG on the cornea with a focus on the corneal endothelium. We searched for articles relevant to pseudoexfoliation syndrome, pseudoexfoliation glaucoma and corneal endothelial cell counts using Pubmed, Google Scholar Database, Web of Science and cochrane Library databases published prior to September of 2016. We then screened the references of these retrieved papers and performed a Web of Science cited reference search. corneal characteristics analyzed included central corneal thickness (ccT, corneal nerve density, endothelial cell density (EcD, polymegathism, and pleomorphism. These parameters were compared in the following populations: control, PEX, PEXG, and primary open angle glaucoma (POAG. Over 30 observational studies were reviewed. Most studies showed a statistically significant lower EcD in PEX and PEXG populations compared to controls. Overall, PEX eyes had a non-statistically significant trend of lower EcDs compared to PEXG eyes. No consistent trends were found when analyzing differences in ccT amongst control, PEX and PEXG groups. For the few studies that looked at corneal nerve characteristics, the control groups were found to have statistically significantly greater nerve densities than PEX eyes, which had significantly greater densities than PEXG eyes. EcD and corneal nerve densities may be potential metrics for risk-stratifying patients with PEX and PEXG. Our literature review provided further evidence of the significant negative influence PEX has on the cornea, worsening as patients convert to PEXG.

  13. Association of Lysyl Oxidase-Like 1 Gene Polymorphism in Turkish Patients With Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma.

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    Asfuroglu, Mahmut; Cavdarli, Busranur; Koz, Ozlem G; A Yarangumeli, Ahmet; Ozdemir, Emine Y

    2017-02-01

    To investigate the genetic association of lysyl oxidase-like 1 (LOXL1) gene polymorphisms in patients with pseudoexfoliation (PEX) syndrome and PEX glaucoma of Turkish descent. Three LOXL1 single nucleotide polymorphisms (SNPs) (rs1048661, rs3825942, and rs2165241) were analyzed in 109 Turkish patients (44 patients with PEX syndrome, 65 patients with PEX glaucoma) and 47 healthy subjects. "A" allele of SNP rs3825942 was underrepresented in control group compared with the glaucoma [odds ratio (OR)=4.5, confidence interval (CI): 95%] and syndrome (OR=4.5, CI: 95%) groups. "AA+AG" genotype of SNP rs3825942 was more frequent in the syndrome group (OR=10, CI: 95%) rather than the control group. "GT" genotype of SNP rs1048661 was presented less frequently in the control group compared with the glaucoma group (OR=4.25, CI: 95%). "T" allele of SNP rs1048661 was more frequent in glaucoma group (OR=2.05, CI: 95%) compared with control group. "T" allele of SNP rs2165241 was more frequent in the syndrome (OR=2.59, CI: 95%) and the glaucoma group (OR=3.78, CI: 95%) compared with the control group. "TT" genotype of SNP rs2165241 was underrepresented in control group compared with the syndrome (OR=3.85, CI: 95%) and the glaucoma (OR=6.58, CI: 95%) group. Findings of this current study indicate a different LOXL1 gene expression pattern compared with a recent study that was also performed in the Turkish population. Other gene replication studies are required to accurately assess genetic factors in the pathogenesis of PEX syndrome and glaucoma.

  14. Pseudoexfoliation syndrome in Ethiopian glaucoma patients | Bedri ...

    African Journals Online (AJOL)

    Background: Pseudoexfoliation syndrome (PXS) has variable prevalence rates in the glaucoma population depending on geographic location and racial composition of the population studied. There is no data available on this subject in Ethiopia. Objective: To determine the prevalence of PXS among Ethiopian glaucoma ...

  15. Is there any relation between pseudoexfoliation syndrome and Alzheimer's type dementia?

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    Cumurcu, Tongabay; Dorak, Ferhat; Cumurcu, Birgul Elbozan; Erbay, Lale Gonenir; Ozsoy, Ercan

    2013-07-01

    To investigate the frequency of Alzheimer-related dementia in patients with pseudoexfoliation syndrome (PEX). Sixty-seven patients with PEX and 67 age-, gender-, and educational-background-matched control subjects were compared for the presence of Alzheimer-related dementia according to DSM- IV-TR. The effects of cataract, glaucoma, additional ocular and systemic disease on the dementia incidence were also evaluated in patients with PEX and the control group. The frequency of Alzheimer-related dementia was higher in patients with PEX (p = 0.0001). The frequency of dementia in patients who had cataract was higher than in patients without cataract (p = 0.003). There was also an association between additional ocular disease and dementia (p dementia (p > 0.05). Furthermore, there was no difference for the frequency of dementia between patients who had glaucoma or not among patients with PEX (p = 0.953). The increased frequency of Alzheimer-related dementia in patients with PEX is important and a possible association between PEX and Alzheimer's disease could be present.

  16. Lysyl oxidase-like 1 polymorphisms in a southwestern Greek cataract population with pseudoexfoliation syndrome

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    Panoutsopoulos AA

    2016-01-01

    Full Text Available Alexios A Panoutsopoulos,1 Vassiliki S Gartaganis,2 Marios P Giannakopoulos,1 Panos D Goumas,3 Evangelos D Anastassiou,4 Sotirios P Gartaganis1 1Department of Ophthalmology, School of Medicine, University of Patras, Achaia, Greece; 2Protein Chemistry Group, Institute of Molecular Oncology, BSRC “Al Fleming”, Vari, Greece; 3Department of Otolaryngology, Head and Neck Surgery, 4Department of Microbiology, School of Medicine, University of Patras, Achaia, Greece Purpose: The aim of this study was to determine the possible association of rs1048661 and rs3825942 single nucleotide polymorphisms (SNPs in the lysyl oxidase-like 1 (LOXL1 gene of cataract patients from southwestern Greece with pseudoexfoliation (PEX syndrome. Patients and methods: Ninety-three patients with PEX syndrome and 74 without PEX syndrome were recruited with the principal diagnosis being cataract. LOXL1 SNPs, rs1048661 and rs3825942, were genotyped by using polymerase chain reaction. Results: The G allele of rs1048661 was found in 96.7% in the PEX group as compared to 80.5% of non-PEX alleles (P=19×10-4; Odds ratio [OR] =5.37; 95% confidence interval [CI] =1.68–17.12. Similarly, the G allele of rs3825942 was found in 72.1% of the PEX group as compared to 41.8% of non-PEX alleles (P=4×10-5; OR =3.78; 95% CI =1.98–7.23. The T and A allele frequencies of rs1048661 and rs3825942, respectively, were underrepresented in the PEX group patients as compared to non-PEX group. Conclusion: Our data confirm previously reported association between LOXL1 polymorphisms and PEX syndrome in a southwestern Greek population. A significant association was found for the G allele of rs1048661 and rs3825942 demonstrating that the GG haplotype is a high-risk factor for the development of PEX syndrome. Keywords: exfoliative syndrome, PEX syndrome, single nucleotide polymorphisms

  17. Serum and Aqueous Humor Levels of Fetuin-A in Pseudoexfoliation Syndrome.

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    Yuksel, Nilay; Takmaz, Tamer; Ozel Turkcu, Ummuhani; Ergin, Merve; Altinkaynak, Hasan; Bilgihan, Ayse

    2017-10-01

    To evaluate serum and aqueous humor levels of fetuin-A in patients with pseudoexfoliation syndrome (PEXS) in comparison with those of age- and sex-matched healthy subjects. This prospective study included 25 patients with PEXS and 25 control subjects who were undergoing cataract surgery without any systemic or ocular disease. Aqueous humor and serum fetuin-A levels were measured with enzyme-linked immunosorbent assay method. The mean age of the PEXS group (14 males, 11 females, n = 25) was 57.7 ± 6.9 years, and the control group (13 males, 12 females, n = 25) was 58.1 ± 5.7 years. There was no difference between the groups in terms of age (p = 0.77) and sex (p = 0.83). The mean serum fetuin-A level of the PEXS group did not differ from that of the control group (p = 0.53). The mean aqueous humor level of the PEXS group was significantly higher than that of the control group (p = 0.032). There were no significant correlations between aqueous humor and serum fetuin-A levels among patients with PEXS and control group (p > 0.05). Increased levels of fetuin-A in aqueous humor of patients with PEXS may show the local effect of fetuin-A on the anterior segment. With considering the wide range of possible biological functions of fetuin-A in the pathogenesis of PEXS, further studies are needed to clarify the clinical relevance of these findings.

  18. Transforming growth factor β1, matrix metalloproteinase-2 and its tissue inhibitor in patients with pseudoexfoliation glaucoma/syndrome

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    Đorđević-Jocić Jasmina

    2012-01-01

    Full Text Available Background/Aim. Transforming growth factor-b1 (TGF-b1, oxidative stress and imbalance between matrix metalloproteinases (MMPs and their tissue inhibitors (TIMPs may play an important role in pathogenesis of pseudoexfoliation syndrome/glaucoma (PEX Sy/Gl. The aim of the study was to measure concentrations of TGF- b1, MMP-2, TIMP-2 in the aqueous humor in the examined group, as well as to compare the biochemical findings with the following clinical parameters: degree of chamber angle pigmantation, presence of pseudoexfoliation and the value of intraocular pressure (IOP. Methods. Aqueous samples from 30 patients with cataract, 30 patients with PEX Sy, 36 patients with PEX Gl, and 42 patients with primary open-angle glaucoma (POAG were collected during phacoemulsification cataract surgery. TGF b1, MMP-2, TIMP-2 Fluotokine Multi Analyze Profiling kits and Luminex technology were used to simultaneously measure TGF b1, MMP-2 and TIMP-2. Results. TGF- β1, MMP-2, TIMP-2 were detected in human aqueous from all the groups with the highest level in the group with PEX Gl. Statistically, a significant correlation between the levels of TGF b1, MMP-2, TIMP-2 in the aqueous humor of the patients with PEX Gl and the IOP value was confirmed (p < 0.05. In this group, the positive correlations between the TGF b1 concentration in the aqueous humor and the presence of pseudoexfoliation (p < 0.01, on the one hand, and between the TIMP-2 level and the presence of pseudoexfoliation (p < 0.05, on the other, were reported. A statistically significant positive correlation of TGF-b1 and MMP-2, and the degree of chamber angle pigmentation in the PEX Gl group was confirmed (p < 0.05. In the POAG group, TIMP-2 values were in a negative correlation with the degree of pigmentation (p < 0.05, and the IOP value (p < 0.05. Conclusion. TGF b1 and MMP-2 affect the degree of chamber angle pigmentation and the degree of pseudoexfoliation in patients with pseudoexfoliative glaucoma.

  19. Serum insulin-like growth factor-1 levels in patients with pseudoexfoliation syndrome and glaucoma.

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    Dogan, Aysun Sanal; Kabatas, Naciye; Erden, Gonul; Celikay, Osman; Arzuhal, Abdullah Ercan; Gurdal, Canan

    2017-04-01

    Insulin-like growth factor-1 (IGF-1) is altered in several neurodegenerative diseases, the association between serum IGF-1 levels and glaucoma has not been evaluated. This study was designed to evaluate whether serum IGF-1 levels are different in patients with Pseudoexfoliation (PEX) with or without glaucoma. The study was conducted with 110 participants aged 65 years or older who were divided into three groups: group 1, patients with PEX syndrome; group 2, patients with PEX glaucoma; and group 3, participants without PEX or glaucoma. All participants underwent full ophthalmological examination and a detailed medical history was recorded. Patients with known neurodegenerative diseases other than PEX glaucoma were excluded. Serum IGF-1 levels were measured by automated chemiluminescent assay. Groups 1, 2, and 3 included 35, 34, and 41 patients, respectively; there were no differences regarding age, gender, or systemic disease status. There were also no statistically significant differences between the groups in terms of IGF-1 levels, which were 91.7 ± 39.1, 101.1 ± 40.2, and 107.2 ± 43.8 ng/ml for groups 1, 2, and 3, respectively (p = 0.276). Serum IGF-1 levels were similar by gender, the presence of systemic disease, status of diabetes mellitus, and laterality of the PEX material. There was no correlation between the cup-to-disk ratios and IGF-1 levels (r = -0.214, p = 0.223). IGF-1 levels in the circulation did not differ in the presence of PEX syndrome with or without glaucoma. This may indicate that the neurodegenerative process is local rather than systemic.

  20. GENDER-RELATED DIFFERENCE IN AQUEOUS HUMOR MATRIX METALLOPROTEINASES MMP-2 AND TISSUE INHIBITOR OF MATRIX METALLOPROTEINASES IN PATIENTS WITH PSEUDOEXFOLIATION SYNDROME/GLAUCOMA

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    Gordana Zlatanović

    2010-03-01

    Full Text Available Pseudoexfoliation syndrome (PEX Sy is a common age–related disorder of the extracellular matrix that is frequently associated with severe secondary chronic open-angle glaucoma and cataract. Pseudoexfoliation glaucoma (PEX gl is one of the most common causes of optic disc damage, low visual accuracy, damage of visual field and blidness. Deposits of white material on the anterior lens surface are the most consistent and important diagnostic feature of PEX syndrome/glaucoma. It is thought that PEX represents aberrant extracellular matrix synthesis. The aim of this paper was to evaluate the gender-related difference in the level of matrix metalloproetinases MMP-2 and tissue inhibitor of matrix metalloproetinases (TIMP-1, TIMP-2, TIMP-3, TIMP-4 in aqueous humor in patients with pseudoexfoliation syndrome/glaucoma.Aqueous humor was aspirated during surgery from 15 patients with PEX syndrome without glaucoma, 42 patients with PEX glaucoma, 36 patients with POAG and 14 age-matched control patients with cataract during cataract surgery or trabeculectomy. Data about medical history, medications, and demographic information were obtained from case notes. In all patients we determined Intra Ocular Pressure (IOP by (measurement by Goldman aplanation tonometry, PEX appereance (determined with slet lamp examination. Fluorokine MultiAnalite Profiling kits (R&D Systems, Minneapolis, MN and Luminex technology (Luminex Corporation, Austin, TX were used to simultaneously measure MMP-2, and TIMP-1, TIMP-2, TIMP-3 and TIMP-4 in aqueous humor samples.Patients with PEX glaucoma are older and of male sex compared to the patients with POAG. Male patients with PEX glaucoma and POAG were significantly older than female patients. Patients with PEX Sy have bilateral ocular changes more often compared to other groups. There were no significant gender differences in aqueous humour MMP-2, TIMP-2, TIMP-3, TIMP-4 levels among examined groups. In the group with PEX syndrome a

  1. EVALUATION OF OCULAR PROFILE OF PATIENTS WITH PSEUDOEXFOLIATION SYNDROME IN A TERTIARY EYE CARE CENTER IN WEST BENGAL

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    Nirmal Kumar Sasmal

    2017-07-01

    Full Text Available BACKGROUND Pseudoexfoliation Syndrome (PEX is characterized by the deposition of a distinctive fibrillar material on the lens capsule, pupillary margin, iris, ciliary body and subconjunctival tissue and has also been identified in other parts of the body. PEX occurs worldwide and prevalence rates vary from 10 to 20% of the general population over the age of 60 years. Heightened awareness of this condition and its associated clinical signs are important in the detection and management of glaucoma, and preoperative determination of those patients at increased risk for surgical complications. The aim of the study was to evaluate the ocular profile of patients with Pseudoexfoliation Syndrome in a tertiary eye care centre in West Bengal and to assess surgical complications which may arise from Pseudoexfoliation Syndrome. MATERIALS AND METHODS This is institution based cross sectional study, conducted at the Regional Institute of Ophthalmology (RIO OPD over a period of 1.5 years starting from February 2014 to July 2015. Fifty patients with the age between 20-80 years, attending RIO, OPD and diagnosed as having Pseudoexfoliation Syndrome were included in our study. Patients with other causes of secondary glaucoma and Fuchs Heterochromic Uveitis were excluded from our study RESULTS In our study we found results similar to other studies with respect to age distribution of pseudo exfoliation patients. Higher incidence was found in age group of patients more than 55 years. The PEX patients in our study had10.0%, 4.0%, 3.0% and 2.0% of pseudoexfoliation glaucoma (PXG, primary open angle glaucoma (POAG, primary angle closure glaucoma(PACG and normal tension glaucoma (NTG respectively. 81% eyes were non-glaucomatous. The mean IOP (mean ± s.d. of the patients was 17.48 ± 2.58 mmHg with range 14 - 23 mmHg and the median was 17 mmHg. Surgical complication was observed in 22.22% of the cases, but this was not further analysed since very few patients (9 patients

  2. Atomic force microscopy-based antibody recognition imaging of proteins in the pathological deposits in Pseudoexfoliation Syndrome

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    Creasey, Rhiannon [School of Chemical and Physical Sciences, Flinders University of SA, GPO Box 2100, Adelaide, SA 5001 (Australia); Sharma, Shiwani [School of Medicine, Ophthalmology, Flinders University of SA, GPO Box 2100, Adelaide, SA 5001 (Australia); Gibson, Christopher T. [School of Chemical and Physical Sciences, Flinders University of SA, GPO Box 2100, Adelaide, SA 5001 (Australia); Craig, Jamie E. [School of Medicine, Ophthalmology, Flinders University of SA, GPO Box 2100, Adelaide, SA 5001 (Australia); Ebner, Andreas [Institute for Biophysics, Johannes Kepler Universitaet Linz, Altenbergerstr. 69, A-4040 Linz (Austria); Becker, Thomas [Nanochemistry Research Institute, Curtin University, GPO Box U1987, Perth, 6845 WA (Australia); Hinterdorfer, Peter [Institute for Biophysics, Johannes Kepler Universitaet Linz, Altenbergerstr. 69, A-4040 Linz (Austria); Voelcker, Nicolas H., E-mail: nico.voelcker@flinders.edu.au [School of Chemical and Physical Sciences, Flinders University of SA, GPO Box 2100, Adelaide, SA 5001 (Australia)

    2011-07-15

    The phenomenon of protein aggregation is of considerable interest to various disciplines, including the field of medicine. A range of disease pathologies are associated with this phenomenon. One of the ocular diseases hallmarked by protein aggregation is the Pseudoexfoliation (PEX) Syndrome. This condition is characterized by the deposition of insoluble proteinaceous material on the anterior human lens capsule. Genomic and proteomic analyses have revealed an association of specific genetic markers and various proteins, respectively, with PEX syndrome. However, the ultrastructure of the protein aggregates is poorly characterized. This study seeks to build capacity to determine the molecular nature of PEX aggregates on human lens capsules in their native state by AFM-based antibody recognition imaging. Lysyl oxidase-Like 1 (LOXL1), a protein identified as a component of PEX aggregates, is detected by an antibody-modified AFM probe. Topographical AFM images and antibody recognition images are obtained using three AFM-based techniques: TREC, phase and force-volume imaging. LOXL1 is found to be present on the lens capsule surface, and is localized around fibrous protein aggregates. Our evaluation shows that TREC imaging is best suited for human tissue imaging and holds significant potential for imaging of human disease tissues in their native state. -- Highlights: {yields} Atomic force microscopy techniques were applied to diseased human tissues. {yields} LOXL1 protein was detected on the small fibers of Pseudoexfoliation deposits. {yields} PicoTREC was the optimum technique for investigating protein aggregates.

  3. Is Pseudoexfoliation Syndrome a Risk Factor for Cerebro Vascular Disease?

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    Kan, Emrah; Yılmaz, Ahmet; Demirağ, Mehmet Derya; Çalık, Murat

    2017-01-01

    To determine the relationship between cerebro vascular disease and pseudoexfoliation syndrome. This cross-sectional case control study consisted of 50 patients with ischemic-type cerebro vascular disease and 50 control subjects. All subjects were investigated for diabetes mellitus and hypertension status and underwent a detailed ophthalmic examination. A diagnosis of pseudoexfoliation syndrome was made if characteristic greyish particulate matter was found on the anterior lens capsule after pupillary dilatation by slit-lamp examination. All subjects were compared in terms of pseudoexfoliation syndrome, diabetes mellitus, and hypertension. Pearson Chi Square and Student's t test were used for statistical analysis. Logistic regression analyses of the risk factors between groups were also made. The presence of pseudoexfoliation syndrome was significantly higher in patients with cerebro vascular disease when compared to the control subjects (p = 0.02). The frequency of diabetes mellitus was similar between the two groups. Arterial hypertension was significantly more frequent in the patient group when compared to the control subjects (p cerebro vascular disease. In the present study, we found that pseudoexfoliation syndrome frequency was found to be higher in patients with cerebro vascular disease than in control subjects. A slit-lamp examination of the eye could be an important marker that indicates the risk of cerebro vascular disease. We recommend an evaluation of all subjects with pseudoexfoliation syndrome for the presence of cerebro vascular disease. Longitudinal studies with larger populations are needed to confirm this relationship.

  4. Ischemic Changes in a Case of Unilateral Pseudoexfoliation Syndrome

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    Tolga Kocaturk

    2016-05-01

    Full Text Available A 66 year old man with normotensive unilateral pseudoexfoliation syndrome associated with ipsilateral marked ischemia with nerve fiber layer thinning and nasal step on successive visual field tests mimicking glaucomatous visual field loss is presented. Although the optic disc appearance of the clinically visible pseudoexfoliative left eye was not suggestive of glaucomatous cupping the disc appeared much pale and retinal vessels narrowed compared to the right eye. Color Doppler imaging of the left ophthalmic artery showed extremely high resistivity index of 0.88. The case is discussed in light of recent literature underscoring the fact that pseudoexfoliation is a cause of ocular ischemia.

  5. Phacoemulsification in eyes with cataract and pseudoexfoliation syndrome

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    Servet Cetinkaya

    2016-06-01

    Full Text Available AIM: To evaluate the visual outcomes and intraoperative and postoperative complications of phacoemulsification surgery in patients with cataract and pseudoexfoliation syndrome(PEXand the usage of proper surgical techniques and appropriate devices intraoperatively.METHODS: Sixty-seven eyes of 53 patients with PEX and cataract who had undergone phacoemulsification and intraocular lens(IOLimplantation surgery were evaluated retrospectively. The mean age was 71.68±9.96(53-89y, and there were 24(45%males and 29(55%females. Nuclear, cortical, posterior subcapsular, and mature cataracts were all represented.RESULTS: Nuclear cataract was significantly more common than other types(P=0.00. The mean preoperative best corrected visual acuity(BCVAwas 0.99±0.30(SD(0.40-1.50logMAR, and the mean postoperative BCVA was 0.32±0.31(SD(0.00-1.00logMAR(P=0.00. Iris retractors were used in 12(18%eyes. Capsular tension ring(CTRimplantation was used in 15(22%eyes, it was planned in 8(12%and unplanned in 7(10%. Posterior capsule rupture occurred in 4(6%eyes, and vitreous loss occurred in 2(3%eyes. Anterior vitrectomy was performed in these 2 eyes. Conversion to extracapsular cataract extraction(ECCEwas needed in these 2(3%eyes due to large posterior capsular rupture. Persistent corneal edema was observed in 4(6%eyes, and anterior chamber reaction in 5(7%eyes. IOL dislocation occurred in 4(6%eyes, but repositioning was only needed in 1(1.5%eye. Posterior capsule opacification(PCOrequiring Nd:YAG laser capsulotomy developed in 13(20%eyes.CONCLUSION: Postoperative visual acuities of patients with cataract and PEX are satisfactory. However, intraoperative and postoperative complications like posterior capsule rupture, vitreous loss, conversion to ECCE, persistent corneal edema, anterior chamber reaction and IOL dislocation may be observed. To avoid these complications, proper surgical techniques and the use of appropriate devices intraoperatively are essential.

  6. Pseudoexfoliation Syndrome and Sensorineural Hearing Loss

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    Ramin Zojaji

    2011-03-01

    Full Text Available Introduction: Pseudoexfoliation syndrome (PXS occurs due to the deposition of extracellular fibrillar materials on the anterior chamber of the eye. This syndrome has been considered to be part of a systemic disease with the potential involvement of the inner ear called sensoroneural hearing loss (SNHL.  In this study, we aimed on evaluating SNHL within PXS patients in Iran to compare them with other international reports. Materials and Methods: In total, 33 patients with PXS and 33 age and sex matched controls were enrolled prospectively in a case-control study. Both groups underwent complete ophthalmologic and otorhinolaryngologic examinations and pure tone audiometry (PTA testing. Six frequencies (0.25, 0.5, 1, 2, 3, 4 and 6 KHz were evaluated for PTA in the same ethnic group in order to select the case and control individuals. Data were analyzed using t-test and chi-square test. Results: Forty-nine out of 66 ears (75.2% in the PXS group and 27 ears (40.9% in the control group had SNHL (P

  7. Cataract surgery in patients with pseudoexfoliation syndrome: current updates

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    Fontana L

    2017-07-01

    Full Text Available Luigi Fontana, Marco Coassin, Alfonso Iovieno, Antonio Moramarco, Luca Cimino Ophthalmology Unit, Arcispedale Santa Maria Nuova – IRCCS, Reggio Emilia, Italy Abstract: Pseudoexfoliation is a ubiquitous syndrome of multifactorial origin affecting elderly people by increasing the risk of cataract and secondary glaucoma development. Despite modern techniques and technologies for cataract surgery, pseudoexfoliation syndrome represents a challenge for surgeons because of the increased weakness of the zonular apparatus and limited pupil dilation. Due to the inherent difficulties during surgery, the risk of vitreous loss in these patients is several times higher than in cataract patients without pseudoexfoliation. Using currently available surgical devices (ophthalmic viscosurgical device, iris retractors and ring dilators, capsular tension ring, etc., the risk of intraoperative complications may be much reduced, allowing the surgeon to handle difficult cases with greater confidence and safety. This review analyzes the methodologic approach to the patient with zonular laxity with the aim of providing useful advices to limit the risks of intraoperative and postoperative complications. From the preoperative planning, to the intraoperative management of the small pupil and phacodonesis, and to the postoperative correction of capsule phimosis and intraocular lens dislocation, a step approach to the surgical management of pseudoexfoliation patients is illustrated. Keywords: pseudoexfoliation syndrome, cataract surgery, zonular laxity, intraocular lens implant, complications

  8. Anterior Chamber Depth Change Following Cataract Surgery in Pseudoexfoliation Syndrome; a Preliminary Study.

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    Fallah Tafti, Mohammad Reza; Abdollah Beiki, Hossein; Mohammadi, S Farzad; Latifi, Golshan; Ashrafi, Elham; Fallah Tafti, Zahra

    2017-01-01

    To assess the pseudophakic anterior chamber depth (PP-ACD) or effective lens position (ELP) change after cataract surgery in patients with pseudoexfoliation syndrome (PEX). Consecutive eyes with PEX and cataract underwent standard phacoemulsification and were implanted with single-piece acrylic posterior chamber intraocular lenses (IOLs). Eyes with severe PEX and with axial length (AL) greater than 24 mm or less than 22 mm were not included. Eyes with capsular complication or unstable bags that needed capsular tension ring insertion were excluded. The SRK-II formula was applied to calculate IOL power for postoperative emmetropia. PP-ACD or ELP was measured using anterior segment optical coherence tomography. Data obtained at one and six months post operation were evaluated during analysis. Twenty-six eyes of 26 subjects (mean age: 72 years; range: 60-84 years) were studied. PP-ACD was deepened (mean change: 0.08 mm) and a concurrent hyperopic shift (0.3 D) was observed postoperatively between month 1 and month 6 (P values ≤0.002). PP-ACD and postoperative refraction changes were correlated with age and AL (P values < 0.025), respectively. Increased hyperopic shift and PP-ACD deepening in eyes with posterior capsule opacification (PCO) was noted postoperatively at six months, but the difference was not statistically significant (P values = 0.15 and 0.2, respectively). After cataract surgery in eyes with PEX syndrome, a significant backward movement of the IOL occurs postoperatively in the first six months, which is associated with a concurrent small hyperopic shift.

  9. Pseudoexfoliation syndrome in various ethnic population of Nepal.

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    Shakya, S; Dulal, S; Maharjan, I M

    2008-09-01

    Pseudoexfoliation syndrome is an ocular condition characterized by a distinctive deposition of fibrillar material in the anterior segment of the eye. Pseudoexfoliation syndrome is frequently associated with glaucoma. Though it is seen in all the population, prevalence varies considerably in different races. A hospital based study done in Nepal by our group showed that Gurung population is frequently affected by this disease than any others. To determine the fact a larger population based study was necessary. Thus a research was designed to survey the various populations in the community. Different population from Kathmandu valley, Kavrepalanchowk, Pokhara, and Ghandruk were evaluated in two different phases to include major ethnic population living in Nepal. Household surveys done to bring all the targeted population to base hospital and detail examination including anterior segment evaluation after dilatation of pupil, optic disc evaluation, intraocular pressure measurement, gonioscopy, visual field recording and photographic documentation was done. Total of4430 population surveyed while only 2135 fulfilled the criteria for inclusion. Gurungs irrespective of their place of residence showed higher prevalence of Pseudoexfoliation syndrome accounting for 7.8% in Kathmandu valley while 12.0% in Ghandruk. Tamangs were affected very rarely by this disease accounting only for 0.3%. Gurungs are at higher risk of developing Pseudoexfoliation syndrome than any others in Nepal.

  10. Application of anodic stripping voltammetry for zinc, copper, and cadmium quantification in the aqueous humor: implications of pseudoexfoliation syndrome.

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    Panteli, Vassiliki S; Kanellopoulou, Dimitra G; Gartaganis, Sotirios P; Koutsoukos, Petros G

    2009-12-01

    Anodic stripping voltammetric (ASV) procedure, using mercury film electrode, was optimized and applied to determine the concentrations of zinc, cadmium, and copper in the aqueous humor. Concentration levels as low as 1 ppb of the test metals was possible to be detected using short electrolysis times (120 s) and microquantities of aqueous humor (up to 35 μL). As a first application of the voltammetric analysis of trace metals in the aqueous humor, the role of the three selected trace elements in the pseudoexfoliation (PEX) syndrome was examined. Samples from aqueous humor were collected during cataract extraction from patients with and without PEX. The zinc and copper concentration levels in the aqueous humor did not show statistically significant difference in the study and control group. Cadmium was detected in a small number of samples, without however statistical differences between the two groups. ASV proved to be a highly precise and sensitive tool for the quantification of heavy metal ions in aqueous humor. Further studies may lead to useful conclusions for the role of zinc, copper, or cadmium in PEX syndrome.

  11. Pseudoexfoliation syndrome, a systemic disorder with ocular manifestations

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    Elhawy Eman

    2012-10-01

    Full Text Available Abstract Pseudoexfoliation syndrome (PXS is a systemic condition with eye manifestations. In the eye, pseudoexfoliation material deposits on various structures of the anterior segment. The nature of this material is mostly fibrillar with fibers made up of microfibrils and coated with amorphous material. The composition of these fibrils is diverse and includes basement membrane components as well as enzymes involved in extracellular matrix maintenance. Pseudoexfoliation is the most common cause of secondary open-angle glaucoma (pseudoexfoliation glaucoma, PXG worldwide. The goal of this review is to summarize our knowledge on the genetics of this systemic disorder and its resultant ocular manifestations. PXS familial aggregation suggests genetic inheritance. PXS has been strongly associated with single nucleotide polymorphisms (SNPs of the lysyl oxidase-like 1 (LOXL1 gene on chromosome 15q24.1. Two of these SNPs confer a higher than 99% population attributable risk for PXS and PXG in the Nordic population; however, they carry different risks in different populations. The high risk haplotypes also vary among different populations. LOXL1 is one of group of the enzymes involved in the cross-linking of collagen and elastin in the extracellular matrix. Its function in connective tissue maintenance has been confirmed in mice; however, its actual role in PXS remains unclear. Contactin-associated protein-like 2 also has a strong genetic association with PXS in a German cohort and is an attractive candidate molecule. It encodes for a protein involved in potassium channel trafficking. Other candidate genes linked to PXS include lysosomal trafficking regulator, clusterin, adenosine receptors, matrix metalloproteinase-1 (MMP1, and glutathione transferase. These genes may be modifying genes for development of PXS and PXG.

  12. Drosophila Carrying Pex3 or Pex16 Mutations Are Models of Zellweger Syndrome That Reflect Its Symptoms Associated with the Absence of Peroxisomes

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    Nakayama, Minoru; Sato, Hiroyasu; Okuda, Takayuki; Fujisawa, Nao; Kono, Nozomu; Arai, Hiroyuki; Suzuki, Emiko; Umeda, Masato; Ishikawa, Hiroyuki O.; Matsuno, Kenji

    2011-01-01

    The peroxisome biogenesis disorders (PBDs) are currently difficult-to-treat multiple-organ dysfunction disorders that result from the defective biogenesis of peroxisomes. Genes encoding Peroxins, which are required for peroxisome biogenesis or functions, are known causative genes of PBDs. The human peroxin genes PEX3 or PEX16 are required for peroxisomal membrane protein targeting, and their mutations cause Zellweger syndrome, a class of PBDs. Lack of understanding about the pathogenesis of Zellweger syndrome has hindered the development of effective treatments. Here, we developed potential Drosophila models for Zellweger syndrome, in which the Drosophila pex3 or pex16 gene was disrupted. As found in Zellweger syndrome patients, peroxisomes were not observed in the homozygous Drosophila pex3 mutant, which was larval lethal. However, the pex16 homozygote lacking its maternal contribution was viable and still maintained a small number of peroxisome-like granules, even though PEX16 is essential for the biosynthesis of peroxisomes in humans. These results suggest that the requirements for pex3 and pex16 in peroxisome biosynthesis in Drosophila are different, and the role of PEX16 orthologs may have diverged between mammals and Drosophila. The phenotypes of our Zellweger syndrome model flies, such as larval lethality in pex3, and reduced size, shortened longevity, locomotion defects, and abnormal lipid metabolisms in pex16, were reminiscent of symptoms of this disorder, although the Drosophila pex16 mutant does not recapitulate the infant death of Zellweger syndrome. Furthermore, pex16 mutants showed male-specific sterility that resulted from the arrest of spermatocyte maturation. pex16 expressed in somatic cyst cells but not germline cells had an essential role in the maturation of male germline cells, suggesting that peroxisome-dependent signals in somatic cyst cells could contribute to the progression of male germ-cell maturation. These potential Drosophila models

  13. Outcome of Phacoemulsification in patients with and without Pseudoexfoliation syndrome in Kashmir

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    Sufi Aalia R

    2012-06-01

    Full Text Available Abstract Background The aim of the study is to compare the outcome of phacoemulsification in patients with and without pseudoexfoliation syndrome in Kashmir. Methods 200 patients were prospectively evaluated and divided into 2 groups. Group 1 comprised 100 cases with pseudoexfoliation and Group 2 (control 100 cases without pseudoexfoliation. Phacoemulsification with posterior chamber intraocular lens implantation was performed by 3 surgeons. Intraoperative and postoperative observations were made in both the groups at regular intervals upto 6 months. A chi square test was used for statistical analysis. Results Patients with pseudoexfoliation were significantly older (P = 0.000, had harder cataract(P = 0.030 and smaller mean pupil diameter(P = 0.000 than the control group. Intraoperative complications were comparable between the 2 groups except the occurrence of zonular dehiscence which was seen in 7% patients of Group 1 compared to 0% in Group 2. Higher postoperative inflammatory response was seen in Group 1(P = 0.000. Decrease in intraocular pressure (IOP at all postoperative measurements was more in Group 1(P = 0.000. The visual acuity was better in the control group in the early postoperative period (P = 0.029, however the final visual acuity at 6 months was comparable between the 2 groups. Conclusions Phacoemulsification in presence of pseudoexfoliation necessitates appropriate surgical technique to avoid intraoperative complications. Pseudoexfoliation is associated with higher inflammatory response, significant postoperative IOP drop and satisfactory visual outcome.

  14. Comparison of cytokine profiles in the aqueous humor of eyes with pseudoexfoliation syndrome and glaucoma.

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    Garweg, Justus G; Zandi, Souska; Pfister, Isabel B; Skowronska, Magdalena; Gerhardt, Christin

    2017-01-01

    To compare the cyto- and chemokine profiles in the aqueous humor of PEXS eyes in the absence or presence of secondary glaucoma with or without luxation of the intraocular lens (IOL). Samples of aqueous humor were collected intraoperatively from 20 healthy controls and from 73 eyes with PEX-syndrome, which was manifested in the absence of any other local or systemic desease. The latter group was sub-devided into eyes with an early form of PEX-syndrome in the absence of complications (PEX, n = 33), those with a late form of PEX-syndrome and glaucoma (PEXG, n = 30), and those with a late form of PEX-syndrome with luxation of the IOL that required surgery (PEXL, n = 10). The samples were analyzed in parallel after storage at -80°C. The levels of 40 cytokines were simultaneously quantified using the Bio-Plex® multiplex beads system. The inter-group data were statistically compared using the Kruskal-Wallis test (p ≤ 0.01). PEX and PEXG were comparable in their cytokine profiles for all 40 cytokines, whereas the cytokine profile in PEXL-eyes revealed higher levels of all but 5 cytokines (CXCL13, CCL27, IL-2, CCL3, CCL20; p ≤ 0.01). This latter finding is indicative of a non-specific inflammatory reaction in the context of IOL-luxation. The concentrations of 6 cytokines lay below the detection limit in all groups. The local up-regulation of 85% of the detectable cytokines in the aqueous humor of PEXL-eyes may be linked either with a progression of the disease or a breakdown of the antero-posterior barrier in the context of IOL-luxation.

  15. Clinical application of capsular tension ring on cataract surgery in patients with pseudoexfoliation syndrome after trabeculectomy

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    Yi Zhang

    2014-09-01

    Full Text Available AIM:To investigate the safety and efficacy of capsular tension ring(CTRinsertion combined with phacoemulsification and intraocular lens(IOLimplantation in patient with pseudoexfoliation syndrome after anti-glaucoma surgery.METHODS: A retrospective study was conducted of 10 eyes from 10 cataract patients with pseudoexfoliation syndrome following trabeculectomy surgery, and who underwent CTR insertion combined with phacoemulsification and IOL implantation between January, 2012 and June, 2013. All cases had nuclear cataracts(nuclear hardness Ⅱ 1 eye, nuclear hardness Ⅲ 4 eyes, nuclear hardness Ⅳ 5 eyes. One case with Ⅳ nuclear hardness cataract had iridodonesis and lens subluxation. Postoperative visual acuity, intra- and post-operative complications, anterior capsular opening, IOL position, and postoperative intraocular pressure(IOPwere assessed. Follow-ups ranged from 3 to 14mo. The t test was used to analyze the variables studied.RESULTS: All patients had a successful CTR insertion combined with phacoemulsification and IOL implantation. A modified CTR insertion was performed in one case, the others underwent a standard CTR insertion. The best corrected visual acuity(BCVAwas ≥0.5 in 3 eyes and 0.3-t=1.9955, P>0.05. The most common intrao- and post-operative complications were corneal edema, small pupil, residual cortex, spontaneous zonular dialysis.CONCLUSION: Suitable CTR insertion in appropriate occasion may be beneficial to patients with pseudoexfoliation syndrome after trabeculectomy during cataract surgery. It prevents the IOL decentration and decrease the surgical complication. Less complication occurs at the early stage.

  16. Energy-filtering transmission electron microscopy (EFTEM) in the elemental analysis of pseudoexfoliative material.

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    Schlötzer-Schrehardt, U; Körtje, K H; Erb, C

    2001-02-01

    To obtain more information on the basic nature of the pathological matrix product accumulating in pseudoexfoliation (PEX) syndrome by analyzing its elemental composition at the subcellular level. Energy-filtering transmission electron microscopy (EFTEM), combining the two microanalytical techniques of electron spectroscopic imaging (ESI) and energy-loss spectroscopy (EELS), were performed on ultrathin sections of lens specimens with PEX syndrome using a transmission electron microscope equipped with an integrated electron energy filter. EFTEM is based on inner shell ionization of elements present in the sample giving rise to characteristic signals in well-defined energy-loss regions. The EEL-spectra, demonstrating the presence of a particular element by its specific electron energy-loss edge, were recorded with an integrated scintillator-photomultiplier-system. ESI generated graphic images of elemental localization in the sections after a process of background correction with an IBAS image analysis program. Energy-dispersive X-ray (EDX) analysis of PEX deposits on hydrated lenses was conducted by variable pressure scanning electron microscopy. The ESI element distribution images of both intracapsular and supracapsular PEX material displayed high signals for nitrogen, sulfur, calcium, chlorine, and zinc in clear association with the PEX fibrils. The corresponding EEL-spectra confirmed the data obtained by ESI and showed the presence of the element-specific energy-loss edges. The presence of these elements in PEX fibrils was further confirmed by EDX analysis. No specific signals were obtained for phosphorus, oxygen, or aluminum. This study demonstrates the presence of nitrogen, sulfur, chlorine, zinc, and calcium both in mature and in aggregating PEX fibrils of the lens capsule. EFTEM proved to be a highly sensitive method for the microanalytical study of biological material with unknown composition, such as PEX material, at the subcellular level.

  17. Characteristics of pseudoexfoliation in the Thessaloniki Eye Study.

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    Anastasopoulos, Eleftherios; Topouzis, Fotis; Wilson, M Roy; Harris, Alon; Pappas, Theofanis; Yu, Fei; Koskosas, Archimidis; Founti, Panayiota; Coleman, Anne L

    2011-03-01

    To report on the prevalence of pseudoexfoliation (PEX) and its association with ophthalmic characteristics and systemic diseases in a well-defined population. The Thessaloniki Eye study is a cross-sectional population-based study of chronic eye diseases in Thessaloniki, Greece. Participants with PEX were identified by clinical examination and were compared with those without PEX with regards to ophthalmic characteristics and systemic diseases, after adjusting for age and sex. PEX was found in 11.9% of the 2261 clinic-visit participants. Participants with PEX, compared with those without, had higher intraocular pressure, larger vertical cup-to-disc ratio, and higher percentage with vertical cup-to-disc ratio asymmetry and optic disc damage. The proportion with glaucoma among pseudoexfoliative participants (15.2%) was higher than that for glaucoma among nonpseudoexfoliative participants (4.7%). After excluding glaucoma participants, the only difference was the 0.6 mm Hg higher intraocular pressure in participants with PEX. Compared with nonpseudoexfoliative eyes, the presence of PEX on iris only or on both iris and lens was associated with higher intraocular pressure, whereas the presence of PEX on lens only was not. PEX was not associated with any systemic disease. The prevalence of PEX in Greece is relatively high compared with other white populations. PEX was associated with higher intraocular pressure and higher percentage with optic disc damage, secondary to the higher proportion with glaucoma among pseudoexfoliative participants than among nonpseudoexfoliative participants. In nonglaucoma participants, eyes with PEX had only slightly higher intraocular pressure, but this was not observed in eyes with PEX on lens only.

  18. Central corneal thickness in subjects with glaucoma and in normal individuals (with or without pseudoexfoliation syndrome

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    Georgios Kitsos

    2009-09-01

    Full Text Available Georgios Kitsos, Christos Gartzios, Ioannis Asproudis, Eleni BagliOphthalmology Department, University of Ioannina, Ioannina, GreeceObjective: The evaluation of central corneal thickness (CCT in subjects with pesudoexfoliation glaucoma (PEXG, primary open-angle glaucoma (POAG, and in normotensive individuals with or without pseudoexfoliation syndrome (PXS. Study design/patients and methods: CCT was evaluated with ultrasound pachymetry in a total of 179 individuals: 32 had bilateral PEXG, 55 had bilateral POAG, 35 had PXS, and 57 were healthy individuals without PXS.Results: CCT in PEXG eyes (526.00 ± 34.30 µm was significantly thinner compared to POAG eyes (549.36 ± 39.3 µm (P = 0.027 and normal control eyes with (550.64 ± 39.0 µm or without PXS (547.36 ± 33.1 µm, (P = 0.039 and 0.048 respectively. No statistically significant difference was found comparing CCT values of POAG eyes to control group eyes.Conclusion: The evaluation of CCT is necessary in all patients with glaucoma and especially in those with PEXG due to the thinner cornea and the risk of underestimation of intraocular pressure.Keywords: CCT, pesudoexfoliation syndrome, glaucoma

  19. The T allele of lysyl oxidase-like 1 rs41435250 is a novel risk factor for pseudoexfoliation syndrome and pseudoexfoliation glaucoma independently and through intragenic epistatic interaction

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    Guadarrama-Vallejo, Dalia; Miranda-Duarte, Antonio

    2013-01-01

    Purpose Two coding single nucleotide polymorphisms (SNPs) in lysyl oxidase-like 1 (LOXL1) are major genetic risk factors for pseudoexfoliation syndrome (XFS) and pseudoexfoliation glaucoma (XFG) in diverse populations. However, recent conflicting results suggest that the currently known disease-associated missense variants R141L and G153D are not causal and that they may be proxies for other unknown functional LOXL1 variants. The purpose of this study was to investigate the possible association of XFS/XFG with a novel LOXL1 exonic variant. Methods Genotypes of the synonymous coding LOXL1 SNP rs41435250 (p.A310A) were identified with direct sequencing. A case-control study was conducted with 115 unrelated Mexican patients with XFS/XFG (43 XFS/72 XFG) as well as 130 control subjects. Allele frequencies, genotype frequencies, and Hardy–Weinberg equilibrium were assessed with the HaploView software. A probable intragenic epistasis effect was assessed by comparing the frequencies of the rs41435250 alleles among a subset of 51 patients with XFS/XFG without the high-risk TT genotype at LOXL1 intronic rs2165241 and the control group. Results The T allele of the exonic SNP rs41435250 was more frequent in patients with XFS/XFG than in controls (odds ratios [95% confidence intervals]=2.0 [1.1–3.6]; p=0.01). Interestingly, the strength of association with the rs41435250 T allele was strongly increased (odds ratio [95% confidence intervals]=4.9 [2.7–9.1]; p=0.00000005) in the subgroup of subjects without the risk genotype at rs2165241. Conclusions Our results indicate that allele T of rs41435250 is a novel risk genetic factor for XFS/XFG development in our population and points toward the possibility of a LOXL1 intragenic epistatic effect between rs41435250 and rs2165241. Functional studies are needed to investigate if the synonymous p.A310A mutation could affect messenger ribonucleic acid stability and thus LOXL1 enzymatic activity. PMID:24068861

  20. The T allele of lysyl oxidase-like 1 rs41435250 is a novel risk factor for pseudoexfoliation syndrome and pseudoexfoliation glaucoma independently and through intragenic epistatic interaction.

    Science.gov (United States)

    Guadarrama-Vallejo, Dalia; Miranda-Duarte, Antonio; Zenteno, Juan Carlos

    2013-01-01

    Two coding single nucleotide polymorphisms (SNPs) in lysyl oxidase-like 1 (LOXL1) are major genetic risk factors for pseudoexfoliation syndrome (XFS) and pseudoexfoliation glaucoma (XFG) in diverse populations. However, recent conflicting results suggest that the currently known disease-associated missense variants R141L and G153D are not causal and that they may be proxies for other unknown functional LOXL1 variants. The purpose of this study was to investigate the possible association of XFS/XFG with a novel LOXL1 exonic variant. Genotypes of the synonymous coding LOXL1 SNP rs41435250 (p.A310A) were identified with direct sequencing. A case-control study was conducted with 115 unrelated Mexican patients with XFS/XFG (43 XFS/72 XFG) as well as 130 control subjects. Allele frequencies, genotype frequencies, and Hardy-Weinberg equilibrium were assessed with the HaploView software. A probable intragenic epistasis effect was assessed by comparing the frequencies of the rs41435250 alleles among a subset of 51 patients with XFS/XFG without the high-risk TT genotype at LOXL1 intronic rs2165241 and the control group. The T allele of the exonic SNP rs41435250 was more frequent in patients with XFS/XFG than in controls (odds ratios [95% confidence intervals] = 2.0 [1.1-3.6]; p = 0.01). Interestingly, the strength of association with the rs41435250 T allele was strongly increased (odds ratio [95% confidence intervals] = 4.9 [2.7-9.1]; p = 0.00000005) in the subgroup of subjects without the risk genotype at rs2165241. Our results indicate that allele T of rs41435250 is a novel risk genetic factor for XFS/XFG development in our population and points toward the possibility of a LOXL1 intragenic epistatic effect between rs41435250 and rs2165241. Functional studies are needed to investigate if the synonymous p.A310A mutation could affect messenger ribonucleic acid stability and thus LOXL1 enzymatic activity.

  1. The role of the cytokines in the pathogenesis of pseudoexfoliation syndrome

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    Zuhal Yildirim

    2013-02-01

    Full Text Available AIM: To examine the mechanism of the development of pseudoexfoliation (PSX syndrome via both cytokine formation and endothelial vasorelaxing and growth factors that will provide us new therapeutic insights for the treatment.METHODS: This is a cross sectional study included two groups; Group 1:control patients with nuclear cataract (n=20, aged 51-80 years. Group 2:PSX patients with nuclear cataract (n=18, aged 50-90 years. Patients with other ophthalmic problems and systemic diseases were excluded. Vascular endothelial growth factor (VEGF, interleukin-6 (IL-6 and interleukin-1β (IL-1β and nitrotyrosine levels were determined through serum samples by Enzyme-linked immunosorbent assay (ELISA method. Nitrite-nitrate levels were measured with photometric endpoint determination.RESULTS: There were no significant differences between the groups in terms of age, VEGF, IL-1β, nitrite-nitrate and nitrotyrosine. The significant results were the mean IL-6 levels that were higher in PSX group 2 (37.68±29.52 pg/mL compared to that in control group 1 (15.32±10.08 pg/mL (PCONCLUSION: Several interacting and extending biochemical pathways may lead to the promotion of VEGF and IL-6 expressions. IL-6 which is the only altered marker in our study may indirectly cause an increase of vascular permeability and neovascularization. We suggest inflammation as a factor that can be involved in etiopathogenesis of PSX.

  2. Evaluation of anterior segment parameters in patients with pseudoexfoliation syndrome using Scheimpflug imaging

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    Alime Gunes

    2016-06-01

    Full Text Available ABSTRACT Purpose: To evaluate anterior segment parameters in patients with pseudoexfoliation syndrome (PXS using Scheimpflug imaging. Methods: Forty-three PXS patients and 43 healthy control subjects were included in this cross-sectional study. All participants underwent a detailed ophthalmologic examination. Anterior segment parameters were measured using a Scheimpflug system. Results: Considering the PXS and control groups, the mean corneal thicknesses at the apex point (536 ± 31 and 560 ± 31 µm, respectively, p=0.001, at the center of the pupil (534 ± 31 and 558 ± 33 µm, respectively, p=0.001, and at the thinnest point (528 ± 30 and 546 ± 27 µm, respectively, p=0.005 were significantly thinner in PXS patients. Visual acuity was significantly lower (0.52 ± 0.37 versus 0.88 ± 0.23, p<0.001 and axial length was significantly longer (23.9 ± 0.70 mm versus 23.2 ± 0.90 mm, p=0.001 in the PXS eyes than in the control eyes. There were no statistically significant differences in the mean values of keratometry, anterior chamber angle, anterior chamber depth, corneal volume, and anterior chamber volume between the PXS and control eyes. Conclusions: The patients with PXS had thinner corneas, worse visual acuity, and longer axial length compared with those in the healthy controls.

  3. Association of LOXL1 polymorphisms with pseudoexfoliation, glaucoma, intraocular pressure, and systemic diseases in a Greek population. The Thessaloniki eye study.

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    Anastasopoulos, Eleftherios; Coleman, Anne L; Wilson, M Roy; Sinsheimer, Janet S; Yu, Fei; Katafigiotis, Sokratis; Founti, Panayiota; Salonikiou, Angeliki; Pappas, Theofanis; Koskosas, Archimidis; Katopodi, Theodora; Lambropoulos, Alexandros; Topouzis, Fotis

    2014-06-10

    To investigate the association of the two single-nucleotide polymorphisms (SNPs) in the lysyl oxidase-like 1 (LOXL1) gene with pseudoexfoliation syndrome (PEX), pseudoexfoliative glaucoma (PEXG), and primary open-angle glaucoma (POAG) in a Greek population-based setting, from the Thessaloniki Eye study. A total of 233 subjects with successful DNA extraction, PCR amplification, and genotyping were included in the genetic analysis of G153D and R141L SNPs of LOXL1 gene and classified into four groups: controls (n = 93); subjects with PEX (n = 40); POAG (n = 66); and PEXG (n = 34). Multinomial logistic regression was used to test their association with LOXL1 SNPs with adjustment for covariates. The association of LOXL1 with IOP (in untreated subjects) and with systemic diseases was explored. Both LOXL1 SNPs were present in high frequencies in controls and cases. The G153D was strongly associated with both PEX (odds ratio [OR] = 23.2, P = 0.003 for allele G) and PEXG (OR = 24.75, P = 0.003 for allele G) and was not associated with POAG (P = 0.451). In contrast, the R141L was not associated with PEX (P = 0.81), PEXG (P = 0.063), or POAG (P = 0.113). No association of the G153D with either intraocular pressure (IOP) or systemic diseases was found. In the Thessaloniki Eye Study, the G153D SNP of LOXL1 gene was strongly associated with both PEX and PEXG, whereas the R141L was not associated. No association of the LOXL1 with IOP or with systemic diseases was found. These findings further support the hypothesis that the LOXL1 gene contributes to onset of PEXG through PEX. Gene variants of LOXL1 do not help to identify those with PEX at increased risk for glaucoma development. Copyright 2014 The Association for Research in Vision and Ophthalmology, Inc.

  4. Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene.

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    Ratbi, Ilham; Jaouad, Imane Cherkaoui; Elorch, Hamza; Al-Sheqaih, Nada; Elalloussi, Mustapha; Lyahyai, Jaber; Berraho, Amina; Newman, William G; Sefiani, Abdelaziz

    2016-10-01

    Heimler syndrome (HS) is a rare recessive disorder characterized by sensorineural hearing loss (SNHL), amelogenesis imperfecta, nail abnormalities, and occasional or late-onset retinal pigmentation. It is the mildest form known to date of peroxisome biogenesis disorder caused by hypomorphic mutations of PEX1 and PEX6 genes. We report on a second Moroccan family with Heimler syndrome with early onset, severe visual impairment and important phenotypic overlap with Usher syndrome. The patient carried a novel homozygous missense variant c.3140T > C (p.Leu1047Pro) of PEX1 gene. As standard biochemical screening of blood for evidence of a peroxisomal disorder did not provide a diagnosis in the individuals with HS, patients with SNHL and retinal pigmentation should have mutation analysis of PEX1 and PEX6 genes. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  5. Diurnal variation in central corneal thickness and intraocular pressure in eyes with pseudoexfoliation syndrome without glaucoma

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    Keel, Stuart; Malesic, Linda; Chan, Siew-Pang

    2014-01-01

    Aim: The aim was to ascertain if any differences exist in diurnal central corneal thickness (CCT) and intra-ocular pressure (IOP) between eyes with pseudoexfoliation (PXF) syndrome without glaucoma and eyes with no ocular pathology. A secondary aim was to determine whether there was a significant relationship between CCT and IOP. Settings and Design: This study was a prospective design conducted within a hospital setting. Materials and Methods: The experimental group consisted of seven participants with bilateral PXF (14 eyes) and the control group comprised of 15 participants (30 eyes). Testing included CCT and IOP measured at four different times on one given day (8.00 a.m.; 11 a.m.; 2 p.m. and 5 p.m.). Statistical Analysis: The data were analyzed with the generalized linear latent mixed model. Results: PXF eyes displayed a significantly thinner overall mean CCT (520 μm) compared to controls (530 μm). Furthermore, a significant reduction in CCT and IOP occurred in the PXF group from 8 a.m. to 5 p.m. The mean overall IOP in PXF eyes was significantly lower than the control group. A significant association between IOP and CCT was also found in PXF eyes. Conclusions: Displaying a significantly thinner mean CCT highlights the importance of measuring CCT in an ophthalmic clinical setting as to avoid falsely underestimated IOP measurements in such a high-risk glaucoma population. Furthermore, a statistically significant correlation between IOP and CCT in PXF eyes suggests that the reduction in CCT that occurred in PXF eyes between 8 a.m. and 5 p.m. may be partly responsible for the reduction in IOP measurements. PMID:25494249

  6. Evaluation of lysyl oxidase-like 1 gene polymorphisms in pseudoexfoliation syndrome in a Korean population

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    Park, Do Young; Won, Hong-Hee; Cho, Hyun-kyung

    2013-01-01

    Purpose The purpose of this study was to evaluate association profiles of lysyl oxidase-like 1 (LOXL1) gene polymorphisms with pseudoexfoliation syndrome (XFS) in a Korean population. Methods A total of 110 Korean patients with XFS and 127 control subjects were included in this study. Genotypes of three single nucleotide polymorphisms (SNPs) of LOXL1 (rs1048661, rs3825942, and rs2165241) were analyzed with direct sequencing, and a case-control association study was performed. Genotype frequencies of each SNP were compared according to the XFS phenotypes. Results All three SNPs were significantly associated with XFS. The T allele at rs1048661 (odds ratio [OR]=14.29, 95% confidence interval [CI]=6.25–33.3) and the C allele at rs2165241 (OR=7.14, 95% CI=1.59–33.3) were risk alleles in Korean subjects, which was consistent with findings in other Asian populations. However, our findings were opposite to results from Caucasian populations in which the risk alleles at rs1048661 and rs2165241 were G and T, respectively. At the rs3825942, the G allele (OR=12.50, 95% CI=2.94–50.0) was a risk allele for XFS, which was similar to results from most other ethnic groups except black South Africans in whom the A allele increased the risk. In the haplotype analysis, the T-G-C haplotype composed of all three risk alleles was significantly overrepresented in XFS and conferred an 11.36 fold (95% CI=5.97–23.49) increased likelihood of XFS. There was no significant association between the genotype frequencies of the three SNPs and the XFS phenotypes. Conclusions Three SNPs of LOXL1 (rs1048661, rs3825942, and 2,165,241) are highly associated with XFS in a Korean population. The risk alleles of these SNPs were similar to those of other Asian populations, such as Japanese or Chinese, but differed from non-Asian populations, suggesting that still unidentified genetic or environmental factors may contribute to disease expression. PMID:23441117

  7. Síndrome pseudoexfoliativo y cirugía de catarata Pseudoexfoliative syndrome and the cataract surgery

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    Henry Pérez González

    2012-12-01

    Full Text Available Se realizó una revisión bibliográfica con el objetivo de exponer los principales aspectos relacionados con la cirugía de catarata en los pacientes con pseudoexfoliación. Se efectuó una búsqueda de los principales artículos científicos de los últimos 10 años y fueron seleccionados los contenidos más relevantes para la confección del informe final. El síndrome de pseudoexfoliación es una patología sistémica asociada a un alto riesgo de complicaciones durante la cirugía de catarata debido principalmente a la debilidad del soporte zonular y la dilatación insuficiente de la pupila. Mediante un cuidadoso examen preoperatorio y una adecuada técnica quirúrgica correctamente valorada por el cirujano, el índice de complicaciones durante el proceder y en el posoperatorio puede reducirse significativamente.A literature review was made to present the main aspects of the cataract surgery in patients with pseudoexfoliative syndrome. The main scientific articles of the past ten years related to the topic were searched, and the most relevant contents were selected for the preparation of the final report. It was found that the pseudoexfoliation syndrome is a systemic pathology associated with high risk of complications during the cataract surgery mainly due to the weakness of the zonular support and the pupilar insufficient dilation. By means of a careful preoperative exam and an appropriate surgical technique, adequately assessed by the surgeon, the rate of complications during and after the surgical procedure may be significantly reduced.

  8. Fluctuations of the Intraocular Pressure in Pseudoexfoliation Syndrome and Normal Eyes Measured by a Contact Lens Sensor.

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    Tojo, Naoki; Hayashi, Atsushi; Otsuka, Mitsuya; Miyakoshi, Akio

    2016-05-01

    We compared the fluctuation of the intraocular pressure (IOP) in patients with pseudoexfoliation syndrome (PE) and individuals with normal healthy eyes. We measured continuous IOP using a SENSIMED Triggerfish contact lens sensor (CLS). Eleven eyes with PE and 11 healthy eyes were examined. In all 22 participants, the IOP fluctuation was measured continuously for 24 hours with a CLS. The CLS could measure every 5 minutes. We evaluated IOP fluctuations over the 24-hour period separately for diurnal IOP and nocturnal IOP. We also identified each participant's maximum value. Changes in the corneal thickness and the corneal curvature were measured before and after the CLS use with anterior-segment optical coherence tomography. The mean IOP within the PE eyes was 20.3±3.9 mm Hg and that in the healthy eyes was 13.1±2.1 mm Hg (P<0.001). The 24-hour range of IOP fluctuations in the PE group was significantly larger than that in the healthy group (P=0.004). The central corneal thickness was significantly thicker after CLS use (P=0.011). The steeper meridian changed slightly to myopia (P=0.0068). All healthy eyes had their maximum value during the nocturnal period, whereas 7 of the 11 PE eyes (64%) had their maximum value in the nocturnal period. The IOP fluctuation was larger in the eyes with PE than in the healthy eyes. This larger fluctuation might be one of the reasons underlying the aggravation of the visual field by PE. Measurements of 24-hour continuous IOP might be useful to evaluate IOP fluctuation.

  9. Ethnicity-Based Differences in the Association of LOXL1 Polymorphisms with Pseudoexfoliation/Pseudoexfoliative Glaucoma: A Meta-Analysis.

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    Founti, Panayiota; Haidich, Anna-Bettina; Chatzikyriakidou, Anthoula; Salonikiou, Angeliki; Anastasopoulos, Eleftherios; Pappas, Theofanis; Lambropoulos, Alexandros; Viswanathan, Ananth C; Topouzis, Fotis

    2015-11-01

    Pseudoexfoliation (PEX) is an age-related disorder of the extracellular matrix; it is strongly associated with glaucoma, the leading cause of irreversible blindness worldwide. We conducted an ethnic-based meta-analysis of the association of LOXL1 polymorphisms with PEX/pseudoexfoliative glaucoma (PEXG). Association studies were retrieved systematically from PubMed, EMBASE, and Web of Knowledge. Allelic and genotype frequencies of rs3825942, rs1048661, and rs2165241 were compared between PEX/PEXG and controls. Odds ratios (OR) and 95% confidence intervals (CI) were calculated using a random effects model. Overall, 39 independent cohorts were included. Rs3825942 (G) was an at risk allele for PEX/PEXG in Caucasians, Japanese, Koreans, Chinese, South Asians, and Middle Easterners, but protective in Black South Africans (OR = 0.10, 95%CI:0.06-0.16). Rs1048661 (G) was an at risk allele for PEX/PEXG in Caucasians, South Asians, Middle Easterners and Black South Africans, but was protective in Japanese (OR = 0.03, 95%CI:0.02-0.06) and Koreans (OR = 0.10, 95%CI:0.05-0.22). These associations we-re confirmed for the genotypic recessive models. Rs2165241 (C) was a protective allele for PEX/PEXG in Caucasians, but was an at risk allele in Japanese (OR = 7.49, 95%CI:3.22-17.41) and Koreans (OR = 6.63, 95%CI:2.60-16.90). This was confirmed for the genotypic dominant model. Other genetic and/or environmental factors may modify the effect of LOXL1 polymorphisms in certain ethnic groups. © 2015 John Wiley & Sons Ltd/University College London.

  10. PSEUDOEXFOLIATION : A STUDY IN RURAL POPULATION AROUND HYDERABAD

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    Dayasagar

    2015-09-01

    Full Text Available CONTEXT: Pseudoexfoliation is an inherited microfibrillopathy with public health implication in India, due to its association with age, increased risk of glaucoma and higher incidence of intraoperative (especially difficulty in mydriasis and postoperative complications of cataract surgery. AIMS: T o determine age, sex, Body Mass Index correlation, laterality and intraocular pressure at presentation and effect of mydriasis in patients with pseudoexfoliation. To estimate the prevalence of glaucoma in pseudoexfoliation patients. SETTINGS AND DESIGN: The study is a cross - sectional observation of patients attending the ophthalmology outpatient department at Bhaskar Medical College, Moinabad over a period of 6 months. 38 consecutive patients (and 48 pseudoexfoliative eyes who fit the inclusion and exclusion criteria were included. METHODS AND MATERIAL : A clinical profile sheet was used to obtain patient information and relevant history of present and past complaints. Recording of height and weight was done, as was visual acuity estimation and examination of anterior segment. Goldman applanation tonometer was used to record intraocular pressure and evaluation of the angle by a four mirror gonioscope. Pupil size was measured before and after the use of 1 drop of 5% w/v phenylephrine and 0.8% w/v tropicamide. RESULTS: Pseudoexfoliation was found to be most common in the 60 - 69 years age group (55.26%, followed by 70 - 79 years (21.05%. Males (63.15% were found to have higher incidence. The majority of patients (68.42% were found to have Body Mass Index in the range of 18.5 - 24.9, classified as normal. 73.68% of patients had unilateral presentation. Most pseudoexfoliative eyes (72.91% showed mydriasis in the range of 6 - 8 mm. 6.25% patients were diagnosed glaucomatous and 10.41% had ocular hypertension. CONCLUSIONS: 1. Pseudoexfoliation syndrome is an age - related microfibrillopathy, with incidence increasing with age. 2. Males had higher incidence

  11. Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients

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    Thoms Sven

    2011-08-01

    Full Text Available Abstract Background Mutations in PEX1 are the most common primary cause of Zellweger syndrome. In addition to exonic mutations, deletions and splice site mutations two 5' polymorphisms at c.-137 and c.-53 with a potential influence on PEX1 protein levels have been described in the 5' untranslated region (UTR of the PEX1 gene. Methods We used RACE and in silico promoter prediction analysis to study the 5' UTR of PEX1. We determined the distribution of PEX1 5' polymorphisms in a cohort of 30 Zellweger syndrome patients by standard DNA sequencing. 5' polymorphisms were analysed in relation to the two most common mutations in PEX1 and were incorporated into a novel genotype-phenotype analysis by correlation of three classes of PEX1 mutations with patient survival. Results We provide evidence that the polymorphism 137 bp upstream of the ATG codon is not part of the UTR, rendering it a promoter polymorphism. We show that the first, but not the second most common PEX1 mutation arose independently of a specific upstream polymorphic constellation. By genotype-phenotype analysis we identified patients with identical exonic mutation and identical 5' polymorphisms, but strongly differing survival. Conclusions Our study suggests that two different types of PEX1 5' polymorphisms have to be distinguished: a 5' UTR polymorphism at position c.-53 and a promoter polymorphism 137 bp upstream of the PEX1 start codon. Our results indicate that the exonic PEX1 mutation correlates with patient survival, but the two 5' polymorphisms analysed in this study do not have to be considered for diagnostic and/or prognostic purposes.

  12. Prevalence of high-risk alleles in the LOXL1 gene and its association with pseudoexfoliation syndrome and exfoliation glaucoma in a Latin American population.

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    Jaimes, Martha; Rivera-Parra, David; Miranda-Duarte, Antonio; Valdés, Gerardo; Zenteno, Juan Carlos

    2012-03-01

    Pseudoexfoliation syndrome (XFS) is a major risk factor for exfoliation glaucoma (XFG). A significant association exists between XFG and several SNPs in the lysyl oxidase-like 1 (LOXL1) gene. The purpose of this study was to report the results of the first association study between LOXL1 polymorphisms and XFS and/or XFG in a Latin American population. Genotypes of three high-risk SNPs of LOXL1 (rs1048661, rs3825942, and rs2165241) were analyzed by direct sequencing. A case-control study was conducted with 102 unrelated XFS/XFG Mexican patients (42 XFS/60 XFG) as well as 97 control subjects. Allele frequencies, Hardy-Weinberg equilibrium, and haplotype association analysis were assessed with the Haplo View software. The T allele of the intronic SNP rs2165241 was more frequent in XFS/XFG patients than in controls (OR [95% CI] = 2.41 [1.59-3.64]; p = 0.00001). The G allele of rs3825942 was found in a higher frequency in XFS/XFG than in controls (100% vs 95% respectively, p = 0.0019). No significant association between XFS and the rs1048661 (R141L) SNP was observed. The TGT haplotype was observed in a higher frequency in patients than in controls (p = 0.025), and produced the highest risk in our study (OR [95% CI] = 3.20 [1.09-9.39]; p = 0.025). This is the first study associating LOXL1 gene polymorphism and XFS/XFG in Latin America. LOXL1 variants are associated with an elevated risk for XFS/XFG in the Mexican population. A higher risk was conferred by the T allele of the intronic rs2165241 SNP rather than by the worldwide "high-risk" G allele of rs3825942.

  13. The PEX study – Exercise therapy for patellofemoral pain syndrome: design of a randomized clinical trial in general practice and sports medicine [ISRCTN83938749

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    van Linschoten, Robbart; van Middelkoop, Marienke; Berger, Marjolein Y; Heintjes, Edith M; Koopmanschap, Mark A; Verhaar, Jan AN; Koes, Bart W; Bierma-Zeinstra, Sita MA

    2006-01-01

    Background Patellofemoral complaints are frequently seen in younger and active patients. Clinical strategy is usually based on decreasing provoking activities as sports and demanding knee activities during work and leisure and reassuring the patient on the presumed good outcome. Exercise therapy is also often prescribed although evidence on effectiveness is lacking. The objective of this article is to present the design of a randomized clinical trial that examines the outcome of exercise therapy supervised by a physical therapist versus a clinically accepted "wait and see" approach (information and advice about the complaints only). The research will address to both effectiveness and cost effectiveness of supervised exercise therapy in patients with patellofemoral pain syndrome (PFPS). Methods/design 136 patients (adolescents and young adults) with patellofemoral pain syndrome are recruited in general practices and sport medicine centers. They will be randomly allocated receiving either 3 months of exercise therapy (or usual care. The primary outcome measures are pain, knee function and perception of recovery after 3 months and 12 months of follow up and will be measured by self reporting. Measurements will take place at baseline, 6 weeks, and 3 monthly until 1 year after inclusion in the study. Secondary outcome measurements include an economic evaluation. A cost-utility analysis will be performed that expresses health improvements in Quality Adjusted Life Years (QALYs) and incorporates direct medical costs and productivity costs Discussion This study has been designed after reviewing the literature on exercise therapy for patellofemoral pain syndrome. It was concluded that to merit the effect of exercise therapy a trial based on correct methodological concept needed to be executed. The PEX study is a randomized clinical trial where exercise therapy is compared to usual care. This trial started in April 2005 and will finish in June 2007. The first results will be

  14. The PEX study - Exercise therapy for patellofemoral pain syndrome: design of a randomized clinical trial in general practice and sports medicine [ISRCTN83938749].

    Science.gov (United States)

    van Linschoten, Robbart; van Middelkoop, Marienke; Berger, Marjolein Y; Heintjes, Edith M; Koopmanschap, Mark A; Verhaar, Jan A N; Koes, Bart W; Bierma-Zeinstra, Sita M A

    2006-03-17

    Patellofemoral complaints are frequently seen in younger and active patients. Clinical strategy is usually based on decreasing provoking activities as sports and demanding knee activities during work and leisure and reassuring the patient on the presumed good outcome. Exercise therapy is also often prescribed although evidence on effectiveness is lacking. The objective of this article is to present the design of a randomized clinical trial that examines the outcome of exercise therapy supervised by a physical therapist versus a clinically accepted "wait and see" approach (information and advice about the complaints only). The research will address to both effectiveness and cost effectiveness of supervised exercise therapy in patients with patellofemoral pain syndrome (PFPS). 136 patients (adolescents and young adults) with patellofemoral pain syndrome are recruited in general practices and sport medicine centers. They will be randomly allocated receiving either 3 months of exercise therapy (or usual care. The primary outcome measures are pain, knee function and perception of recovery after 3 months and 12 months of follow up and will be measured by self reporting. Measurements will take place at baseline, 6 weeks, and 3 monthly until 1 year after inclusion in the study. Secondary outcome measurements include an economic evaluation.A cost-utility analysis will be performed that expresses health improvements in Quality Adjusted Life Years (QALYs) and incorporates direct medical costs and productivity costs This study has been designed after reviewing the literature on exercise therapy for patellofemoral pain syndrome. It was concluded that to merit the effect of exercise therapy a trial based on correct methodological concept needed to be executed. The PEX study is a randomized clinical trial where exercise therapy is compared to usual care. This trial started in April 2005 and will finish in June 2007. The first results will be available around December 2007.

  15. The PEX study – Exercise therapy for patellofemoral pain syndrome: design of a randomized clinical trial in general practice and sports medicine [ISRCTN83938749

    Directory of Open Access Journals (Sweden)

    Verhaar Jan AN

    2006-03-01

    Full Text Available Abstract Background Patellofemoral complaints are frequently seen in younger and active patients. Clinical strategy is usually based on decreasing provoking activities as sports and demanding knee activities during work and leisure and reassuring the patient on the presumed good outcome. Exercise therapy is also often prescribed although evidence on effectiveness is lacking. The objective of this article is to present the design of a randomized clinical trial that examines the outcome of exercise therapy supervised by a physical therapist versus a clinically accepted "wait and see" approach (information and advice about the complaints only. The research will address to both effectiveness and cost effectiveness of supervised exercise therapy in patients with patellofemoral pain syndrome (PFPS. Methods/design 136 patients (adolescents and young adults with patellofemoral pain syndrome are recruited in general practices and sport medicine centers. They will be randomly allocated receiving either 3 months of exercise therapy (or usual care. The primary outcome measures are pain, knee function and perception of recovery after 3 months and 12 months of follow up and will be measured by self reporting. Measurements will take place at baseline, 6 weeks, and 3 monthly until 1 year after inclusion in the study. Secondary outcome measurements include an economic evaluation. A cost-utility analysis will be performed that expresses health improvements in Quality Adjusted Life Years (QALYs and incorporates direct medical costs and productivity costs Discussion This study has been designed after reviewing the literature on exercise therapy for patellofemoral pain syndrome. It was concluded that to merit the effect of exercise therapy a trial based on correct methodological concept needed to be executed. The PEX study is a randomized clinical trial where exercise therapy is compared to usual care. This trial started in April 2005 and will finish in June 2007

  16. DNA sequence variants in the LOXL1 gene are associated with pseudoexfoliation glaucoma in a U.S. clinic-based population with broad ethnic diversity

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    Miller Joan W

    2008-02-01

    Full Text Available Abstract Background Pseudoexfoliation syndrome is a major risk factor for glaucoma in many populations throughout the world. Using a U.S. clinic-based case control sample with broad ethnic diversity, we show that three common SNPs in LOXL1 previously associated with pseudoexfoliation in Nordic populations are significantly associated with pseudoexfoliation syndrome and pseudoexfoliation glaucoma. Methods Three LOXL1 SNPs were genotyped in a patient sample (206 pseudoexfoliation, 331 primary open angle glaucoma, and 88 controls from the Glaucoma Consultation Service at the Massachusetts Eye and Ear Infirmary. The SNPs were evaluation for association with pseudeoexfoliation syndrome, pseudoexfoliation glaucoma, and primary open angle glaucoma. Results The strongest association was found for the G allele of marker rs3825942 (G153D with a frequency of 99% in pseudoexfoliation patients (with and without glaucoma compared with 79% in controls (p = 1.6 × 10-15; OR = 20.93, 95%CI: 8.06, 54.39. The homozygous GG genotype is also associated with pseudoexfoliation when compared to controls (p = 1.2 × 10-12; OR = 23.57, 95%CI: 7.95, 69.85. None of the SNPs were significantly associated with primary open angle glaucoma. Conclusion The pseudoexfoliation syndrome is a common cause of glaucoma. These results indicate that the G153D LOXL1 variant is significantly associated with an increased risk of pseudoexfoliation and pseudoexfoliation glaucoma in an ethnically diverse patient population from the Northeastern United States. Given the high prevalence of pseudooexfoliation in this geographic region, these results also indicate that the G153D LOXL1 variant is a significant risk factor for adult-onset glaucoma in this clinic based population.

  17. Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.

    Science.gov (United States)

    Neuhaus, Christine; Eisenberger, Tobias; Decker, Christian; Nagl, Sandra; Blank, Cornelia; Pfister, Markus; Kennerknecht, Ingo; Müller-Hofstede, Cornelie; Charbel Issa, Peter; Heller, Raoul; Beck, Bodo; Rüther, Klaus; Mitter, Diana; Rohrschneider, Klaus; Steinhauer, Ute; Korbmacher, Heike M; Huhle, Dagmar; Elsayed, Solaf M; Taha, Hesham M; Baig, Shahid M; Stöhr, Heidi; Preising, Markus; Markus, Susanne; Moeller, Fabian; Lorenz, Birgit; Nagel-Wolfrum, Kerstin; Khan, Arif O; Bolz, Hanno J

    2017-09-01

    Combined retinal degeneration and sensorineural hearing impairment is mostly due to autosomal recessive Usher syndrome (USH1: congenital deafness, early retinitis pigmentosa (RP); USH2: progressive hearing impairment, RP). Sanger sequencing and NGS of 112 genes (Usher syndrome, nonsyndromic deafness, overlapping conditions), MLPA, and array-CGH were conducted in 138 patients clinically diagnosed with Usher syndrome. A molecular diagnosis was achieved in 97% of both USH1 and USH2 patients, with biallelic mutations in 97% (USH1) and 90% (USH2), respectively. Quantitative readout reliably detected CNVs (confirmed by MLPA or array-CGH), qualifying targeted NGS as one tool for detecting point mutations and CNVs. CNVs accounted for 10% of identified USH2A alleles, often in trans to seemingly monoallelic point mutations. We demonstrate PTC124-induced read-through of the common p.Trp3955* nonsense mutation (13% of detected USH2A alleles), a potential therapy target. Usher gene mutations were found in most patients with atypical Usher syndrome, but the diagnosis was adjusted in case of double homozygosity for mutations in OTOA and NR2E3, genes implicated in isolated deafness and RP. Two patients with additional enamel dysplasia had biallelic PEX26 mutations, for the first time linking this gene to Heimler syndrome. Targeted NGS not restricted to Usher genes proved beneficial in uncovering conditions mimicking Usher syndrome.

  18. PSEUDOEXFOLIATION SYNDROME IN ETHIOPIAN GLAUCOMA ...

    African Journals Online (AJOL)

    1999-05-05

    May 5, 1999 ... All patients with. PXS and glaucoma or ocular HPN were included in this study, except those secondary glaucoma cases due to trauma, intraocular inflammation and anterior adherent leucoma. For the purpose of this study, glaucoma is defined as an IOF222 mmHg with glaucomatous cupping of the optic.

  19. clinical characteristics of cataract patients with pseudoexfoliation

    African Journals Online (AJOL)

    User

    BACKGROUND: Pseudoexfoliation is the most common identifiable cause of secondary glaucoma and pseudoexfoliation patients have higher rates of intraoperative and postoperative complications of cataract surgery compared to those without the condition. Hence, the objective of this study was to assess the clinical ...

  20. Coincidence of retinitis pigmentosa and pseudoexfoliative glaucoma

    Directory of Open Access Journals (Sweden)

    Božić Marija

    2017-01-01

    Full Text Available Introduction. This is an observational case report presenting retinitis pigmentosa associated with pseudoexfoliative glaucoma. Case outline. A 69-year-old man presented with retinitis pigmentosa. On examination, pseudoexfoliative material was detected on anterior segment structures, and intraocular pressure was 26 mmHg in the right and 24 mmHg in the left eye. The patient was commenced on topical antiglaucomatous therapy (timolol + dorzolamide twice daily, latanoprost once in the evening to both eyes. Conclusion. To the best of our knowledge, this is the first reported case of retinitis pigmentosa associated with pseudoexfoliative glaucoma. Although rare, retinitis pigmentosa and glaucoma can occur in the same eye.

  1. Yeast pex1 cells contain peroxisomal ghosts that import matrix proteins upon reintroduction of Pex1

    NARCIS (Netherlands)

    Knoops, Kèvin; de Boer, Rinse; Kram, Anita; van der Klei, Ida J

    2015-01-01

    Pex1 and Pex6 are two AAA-ATPases that play a crucial role in peroxisome biogenesis. We have characterized the ultrastructure of the Saccharomyces cerevisiae peroxisome-deficient mutants pex1 and pex6 by various high-resolution electron microscopy techniques. We observed that the cells contained

  2. Pseudoexfoliation: normative data and associations. The Central India Eye and Medical Study.

    Directory of Open Access Journals (Sweden)

    Jost B Jonas

    Full Text Available PURPOSE: To assess the prevalence of pseudoexfoliation (PEX and its associations in a population-based setting. DESIGN: Population-based, cross-sectional study. METHODS: The Central India Eye and Medical Study included 4711 individuals. All study participants underwent a detailed ophthalmological examination. After medical pupil dilation, PEX was assessed by an experienced ophthalmologist using slit-lamp based biomicroscopy. RESULTS: Slit lamp examination results were available for 4646 (98.6% study participants with a mean age of 49.3 ± 13.3 years (range: 30-100 years. PEX was detected in 87 eyes (prevalence: 0.95 ± 0.10% (95%CI: 0.75, 1.15 of 69 subjects (prevalence: 1.49 ± 0.18% (95%CI: 1.14, 1.83. PEX prevalence increased significantly (P<0.001 from 0% in the age group of 30-39 years, to 2.85 ± 0.56% in the age group of 60-69 years, to 6.60 ± 1.21% in the age group of 70-79 years, and to 12.3 ± 4.11% in the age group of 80+ years. In multivariate analysis, PEX prevalence was associated with higher age (P<0.001; regression coefficient B:0.11; odds ratio (OR: 1.11 (95%CI: 1.09, 1.13, lower body mass index (P = 0.001; B: -0.12; OR: 0.88 (95CI: 0.82, 0.95 and higher diastolic blood pressure (P = 0.002; B: 0.02; OR: 1.03 (95%CI: 1.01, 1.04. In the multivariate analysis, PEX was not associated with retinal nerve fiber layer cross section area (P = 0.76 and presence of open-angle glaucoma (P = 0.15. CONCLUSIONS: In a rural Central Indian population aged 30+ years, PEX prevalence (mean: 1.49 ± 0.18% was significantly associated with older age, lower body mass index and higher diastolic blood pressure. It was not significantly associated with optic nerve head measurements, refractive error, any ocular biometric parameter, nuclear cataract, early age-related macular degeneration and retinal vein occlusion, diabetes mellitus, smoking, and dyslipidemia.

  3. Comparison of intraocular pressure fluctuations before and after ab interno trabeculectomy in pseudoexfoliation glaucoma patients.

    Science.gov (United States)

    Tojo, Naoki; Abe, Shinya; Miyakoshi, Mari; Hayashi, Atsushi

    2017-01-01

    Ab interno trabeculectomy (AIT) with the Trabectome has been shown to reduce intraocular pressure (IOP) in eyes with pseudoexfoliation (PEX) glaucoma. Here, we examined the change of IOP fluctuations before and after only AIT or AIT with cataract surgery in PEX patients using the contact lens sensor Triggerfish(®). This was a prospective open-label study. Twenty-four consecutive patients with PEX glaucoma were included. Twelve patients underwent cataract surgery and AIT (triple-surgery group), and 12 patients underwent only AIT (single-surgery group). In each eye, IOP fluctuations over 24 h were measured with the contact lens sensor before and at 3 months after the surgery. We compared the change of IOP fluctuation before and after operation. We also evaluated the difference in IOP changes between the triple- and single-surgery groups. At 3 months after the surgeries, the mean IOP was significantly reduced from 23.5±6.5 mmHg to 14.6±2.8 mmHg in the single-surgery group and from 22.5±3.0 mmHg to 11.5±2.9 mmHg in the triple-surgery group. The mean IOP reduction rate was significantly higher in the triple-surgery group compared to the single-surgery group (p=0.0358). In both groups, the mean range of IOP fluctuations was significantly decreased during nocturnal periods. The mean range of 24 h IOP fluctuations was decreased in the triple-surgery group (p=0.00425), not in the single-surgery group (p=0.970). Triple surgery could decrease IOP value and the IOP fluctuations to a greater extent than single surgery in PEX glaucoma patients.

  4. De Novo Peroxisome Biogenesis in Penicillium Chrysogenum Is Not Dependent on the Pex11 Family Members or Pex16

    NARCIS (Netherlands)

    Opalinski, Lukasz; Bartoszewska, Magdalena; Fekken, Susan; Liu, Haiyin; de Boer, Rinse; van der Klei, Ida; Veenhuis, Marten; Kiel, Jan A. K. W.; Yu, Jae-Hyuk

    2012-01-01

    We have analyzed the role of the three members of the Pex11 protein family in peroxisome formation in the filamentous fungus Penicillium chrysogenum. Two of these, Pex11 and Pex11C, are components of the peroxisomal membrane, while Pex11B is present at the endoplasmic reticulum. We show that Pex11

  5. Clinical Characteristics of Cataract Patients with Pseudoexfoliation ...

    African Journals Online (AJOL)

    A total of 402 subjects with cataract were examined for the presence of pseudoexfoliation material, type of cataract, intraocular pressure, glaucoma and other factors. The presence of any exfoliation material on the iris, pupil and lens capsule was examined. Data were computed using SPSS version 16.0. Results: Out of the ...

  6. De novo peroxisome biogenesis in Penicillium chrysogenum is not dependent on the Pex11 family members or Pex16.

    Directory of Open Access Journals (Sweden)

    Łukasz Opaliński

    Full Text Available We have analyzed the role of the three members of the Pex11 protein family in peroxisome formation in the filamentous fungus Penicillium chrysogenum. Two of these, Pex11 and Pex11C, are components of the peroxisomal membrane, while Pex11B is present at the endoplasmic reticulum. We show that Pex11 is a major factor involved in peroxisome proliferation. We also demonstrate that P. chrysogenum cells deleted for known peroxisome fission factors (all Pex11 family proteins and Vps1 still contain peroxisomes. Interestingly, we find that, unlike in mammals, Pex16 is not essential for peroxisome biogenesis in P. chrysogenum, as partially functional peroxisomes are present in a pex16 deletion strain. We also show that Pex16 is not involved in de novo biogenesis of peroxisomes, as peroxisomes were still present in quadruple Δpex11 Δpex11B Δpex11C Δpex16 mutant cells. By contrast, pex3 deletion in P. chrysogenum led to cells devoid of peroxisomes, suggesting that Pex3 may function independently of Pex16. Finally, we demonstrate that the presence of intact peroxisomes is important for the efficiency of ß-lactam antibiotics production by P. chrysogenum. Remarkably, distinct from earlier results with low penicillin producing laboratory strains, upregulation of peroxisome numbers in a high producing P. chrysogenum strain had no significant effect on penicillin production.

  7. Isolation of Penicillium chrysogenum PEX1 and PEX6 encoding AAA proteins involved in peroxisome biogenesis

    OpenAIRE

    Kiel, JAKW; Hilbrands, RE; Bovenberg, RAL; Veenhuis, M.

    2000-01-01

    In Penicillium chrysogenum, key enzymes involved in the production of penicillin reside in peroxisomes. As a first step to understand the role of these organelles in penicillin biosynthesis, we set out to isolate the genes involved in peroxisome biogenesis. Here we report the cloning and characterization of P. chrysogenum PEX1 and PEX6, which encode proteins of the AAA family of ATPases. The second AAA module, which is essential for the function of Pex1p and Pex6p in peroxisome biogenesis, is...

  8. Membrane curvature during peroxisome fission requires Pex11

    NARCIS (Netherlands)

    Opalinski, Lukasz; Kiel, Jan A. K. W.; Williams, Chris; Veenhuis, Marten; van der Klei, Ida J.

    2011-01-01

    Pex11 is a key player in peroxisome proliferation, but the molecular mechanisms of its function are still unknown. Here, we show that Pex11 contains a conserved sequence at the N-terminus that can adopt the structure of an amphipathic helix. Using Penicillium chrysogenum Pex11, we show that this

  9. Peroxisome biogenesis and selective degradation converge at Pex14p

    NARCIS (Netherlands)

    Bellu, AR; Komori, M; van der Klei, IJ; Kiel, JAKW; Veenhuis, M

    2001-01-01

    We have analyzed the function of Hansenula polymorpha Pex14p in selective peroxisome degradation. Previously, we showed that Pex14p was involved in peroxisome biogenesis and functions in peroxisome matrix protein import. Evidence for the additional function of HpPex14p in selective peroxisome

  10. Hansenula polymorpha pex11 cells are affected in peroxisome retention

    NARCIS (Netherlands)

    Krikken, Arjen M; Veenhuis, Marten; van der Klei, Ida J

    We have cloned and characterized the Hansenula polymorpha PEX11 gene. Our morphological data are consistent with previous observations that peroxisome proliferation can be regulated by modulating Pex11p levels. Surprisingly, pex11 cells also showed a defect in peroxisome retention in mother cells

  11. PexRAP Inhibits PRDM16-Mediated Thermogenic Gene Expression

    Directory of Open Access Journals (Sweden)

    Irfan J. Lodhi

    2017-09-01

    Full Text Available How the nuclear receptor PPARγ regulates the development of two functionally distinct types of adipose tissue, brown and white fat, as well as the browning of white fat, remains unclear. Our previous studies suggest that PexRAP, a peroxisomal lipid synthetic enzyme, regulates PPARγ signaling and white adipogenesis. Here, we show that PexRAP is an inhibitor of brown adipocyte gene expression. PexRAP inactivation promoted adipocyte browning, increased energy expenditure, and decreased adiposity. Identification of PexRAP-interacting proteins suggests that PexRAP function extends beyond its role as a lipid synthetic enzyme. Notably, PexRAP interacts with importin-β1, a nuclear import factor, and knockdown of PexRAP in adipocytes reduced the levels of nuclear phospholipids. PexRAP also interacts with PPARγ, as well as PRDM16, a critical transcriptional regulator of thermogenesis, and disrupts the PRDM16-PPARγ complex, providing a potential mechanism for PexRAP-mediated inhibition of adipocyte browning. These results identify PexRAP as an important regulator of adipose tissue remodeling.

  12. Alternative Splicing Suggests Extended Function of PEX26 in Peroxisome Biogenesis

    Science.gov (United States)

    Weller, Sabine; Cajigas, Ivelisse; Morrell, James; Obie, Cassandra; Steel, Gary; Gould, Stephen J.; Valle, David

    2005-01-01

    Matsumoto and colleagues recently identified PEX26 as the gene responsible for complementation group 8 of the peroxisome biogenesis disorders and showed that it encodes an integral peroxisomal membrane protein with a single C-terminal transmembrane domain and a cytosolic N-terminus that interacts with the PEX1/PEX6 heterodimer through direct binding to the latter. They proposed that PEX26 functions as the peroxisomal docking factor for the PEX1/PEX6 heterodimer. Here, we identify new PEX26 disease alleles, localize the PEX6-binding domain to the N-terminal half of the protein (aa 29–174), and show that, at the cellular level, PEX26 deficiency impairs peroxisomal import of both PTS1- and PTS2-targeted matrix proteins. Also, we find that PEX26 undergoes alternative splicing to produce several splice forms—including one, PEX26-Δex5, that maintains frame and encodes an isoform lacking the transmembrane domain of full-length PEX26 (PEX26-FL). Despite its cytosolic location, PEX26-Δex5 rescues peroxisome biogenesis in PEX26-deficient cells as efficiently as does PEX26-FL. To test our observation that a peroxisomal location is not required for PEX26 function, we made a chimeric protein (PEX26-Mito) with PEX26 as its N-terminus and the targeting segment of a mitochondrial outer membrane protein (OMP25) at its C-terminus. We found PEX26-Mito localized to the mitochondria and directed all detectable PEX6 and a fraction of PEX1 to this extraperoxisomal location; yet PEX26-Mito retains the full ability to rescue peroxisome biogenesis in PEX26-deficient cells. On the basis of these observations, we suggest that a peroxisomal localization of PEX26 and PEX6 is not required for their function and that the interaction of PEX6 with PEX1 is dynamic. This model predicts that, once activated in an extraperoxisomal location, PEX1 moves to the peroxisome and completes the function of the PEX1/6 heterodimer. PMID:15858711

  13. Pex35 is a regulator of peroxisome abundance

    DEFF Research Database (Denmark)

    Yofe, Ido; Soliman, Kareem; Chuartzman, Silvia G

    2017-01-01

    Peroxisomes are cellular organelles with vital functions in lipid, amino acid, and redox metabolism. The cellular formation and dynamics of peroxisomes are governed by PEX genes, however, the regulation of peroxisome abundance is yet poorly understood. Here we use a high-content microscopy screen...... to identify novel regulators of peroxisome size and abundance. Our screen led to the identification of a previously uncharacterized gene, which we term PEX35, which affects peroxisome abundance. PEX35 encodes a peroxisomal membrane protein, a remote homolog to several curvature generating human proteins. We...... systematically characterized the genetic and physical interactome as well as the metabolome of mutants in PEX35, and we found that Pex35 functionally interacts with the vesicle budding inducer Arf1 Our results highlight the functional interaction between peroxisomes and the secretory pathway....

  14. A comparative study of peroxisomal structures in Hansenula polymorpha pex mutants

    NARCIS (Netherlands)

    Koek, Anne; Komori, Masayuki; Veenhuis, Marten; van der Klei, Ida J.

    2007-01-01

    In a recent study, we performed a systematic genome analysis for the conservation of genes involved in peroxisome biogenesis (PEX genes) in various fungi. We have now performed a systematic study of the morphology of peroxisome remnants ('ghosts') in Hansenula polymorpha pex mutants (pex1-pex20) and

  15. Saccharomyces cerevisiae cells lacking Pex3 contain membrane vesicles that harbor a subset of peroxisomal membrane proteins.

    Science.gov (United States)

    Wróblewska, Justyna P; Cruz-Zaragoza, Luis Daniel; Yuan, Wei; Schummer, Andreas; Chuartzman, Silvia G; de Boer, Rinse; Oeljeklaus, Silke; Schuldiner, Maya; Zalckvar, Einat; Warscheid, Bettina; Erdmann, Ralf; van der Klei, Ida J

    2017-10-01

    Pex3 has been proposed to be important for the exit of peroxisomal membrane proteins (PMPs) from the ER, based on the observation that PMPs accumulate at the ER in Saccharomyces cerevisiae pex3 mutant cells. Using a combination of microscopy and biochemical approaches, we show that a subset of the PMPs, including the receptor docking protein Pex14, localizes to membrane vesicles in S. cerevisiae pex3 cells. These vesicles are morphologically distinct from the ER and do not co-sediment with ER markers in cell fractionation experiments. At the vesicles, Pex14 assembles with other peroxins (Pex13, Pex17, and Pex5) to form a complex with a composition similar to the PTS1 import pore in wild-type cells. Fluorescence microscopy studies revealed that also the PTS2 receptor Pex7, the importomer organizing peroxin Pex8, the ubiquitin conjugating enzyme Pex4 with its recruiting PMP Pex22, as well as Pex15 and Pex25 co-localize with Pex14. Other peroxins (including the RING finger complex and Pex27) did not accumulate at these structures, of which Pex11 localized to mitochondria. In line with these observations, proteomic analysis showed that in addition to the docking proteins and Pex5, also Pex7, Pex4/Pex22 and Pex25 were present in Pex14 complexes isolated from pex3 cells. However, formation of the entire importomer was not observed, most likely because Pex8 and the RING proteins were absent in the Pex14 protein complexes. Our data suggest that peroxisomal membrane vesicles can form in the absence of Pex3 and that several PMPs can insert in these vesicles in a Pex3 independent manner. Copyright © 2017 Elsevier B.V. All rights reserved.

  16. The Early-Acting Peroxin PEX19 Is Redundantly Encoded, Farnesylated, and Essential for Viability in Arabidopsis thaliana.

    Directory of Open Access Journals (Sweden)

    Margaret M McDonnell

    Full Text Available Peroxisomes are single-membrane bound organelles that are essential for normal development in plants and animals. In mammals and yeast, the peroxin (PEX proteins PEX3 and PEX19 facilitate the early steps of peroxisome membrane protein (PMP insertion and pre-peroxisome budding from the endoplasmic reticulum. The PEX3 membrane protein acts as a docking site for PEX19, a cytosolic chaperone for PMPs that delivers PMPs to the endoplasmic reticulum or peroxisomal membrane. PEX19 is farnesylated in yeast and mammals, and we used immunoblotting with prenylation mutants to show that PEX19 also is fully farnesylated in wild-type Arabidopsis thaliana plants. We examined insertional alleles disrupting either of the two Arabidopsis PEX19 isoforms, PEX19A or PEX19B, and detected similar levels of PEX19 protein in the pex19a-1 mutant and wild type; however, PEX19 protein was nearly undetectable in the pex19b-1 mutant. Despite the reduction in PEX19 levels in pex19b-1, both pex19a-1 and pex19b-1 single mutants lacked notable peroxisomal β-oxidation defects and displayed normal levels and localization of peroxisomal matrix and membrane proteins. The pex19a-1 pex19b-1 double mutant was embryo lethal, indicating a redundantly encoded critical role for PEX19 during embryogenesis. Expressing YFP-tagged versions of either PEX19 isoform rescued this lethality, confirming that PEX19A and PEX19B act redundantly in Arabidopsis. We observed that pex19b-1 enhanced peroxisome-related defects of a subset of peroxin-defective mutants, supporting a role for PEX19 in peroxisome function. Together, our data indicate that Arabidopsis PEX19 promotes peroxisome function and is essential for viability.

  17. Pattern of pseudoexfoliation deposits on the lens and their clinical correlation--clinical study and review of literature.

    Directory of Open Access Journals (Sweden)

    Aparna Rao

    Full Text Available PURPOSE: To study the clinical correlates of pattern of deposits over the lens in patients with pseudoexfoliation syndrome (PXF or pseudoexfoliation glaucoma. METHODS: This retrospective observational study screened 346 patients with PXF seen in glaucoma clinic of a tertiary hospital from 2011-2013. Details like pattern of deposits, location on the lens surface and pupillary abnormalities in slit lamp photographs and their correlation with clinical and demographic variables, were analysed. RESULTS: A total of 84 eyes of 42 patients with bilateral PXF were included for the study. Glaucoma was seen in 30 eyes with baseline IOP of 24+3.8 mm Hg. Comparing the type of deposits, namely classical (n = 39 eyes, radial pigmentary (RP form (n = 39 eyes and combined classical and radial pigmentary (CR forms (n = 6 eyes of deposits, pupillary ruff atrophy was common in all forms while poor dilatation was rare in the RP type (n = 5 vs n = 25 in classical forms, p < 0.001. Mean deviation (MD was worse in the classical and CR form as compared to RP type with the latter presenting much earlier, 43 ± 3.2 years vs 48 ± 4.1 years in CR and 56 ± 5.7 years in classical form, p < 0.001. The baseline IOP in the RP group (18 ± 2.3 mm Hg was significantly lower than the other two forms (CR 20 ± 3.2 mm Hg, classical 28 ± 2.3 mm Hg, p < 0.001, with only 2 eyes on anti-glaucoma drugs at presentation. CONCLUSION: Pattern of exfoliation deposits may indicate the stage and severity of the disease process in evolution with the RP representing an earlier/less severe form of pseudoexfoliation syndrome.

  18. The peroxin Pex34p functions with the Pex11 family of peroxisomal divisional proteins to regulate the peroxisome population in yeast.

    Science.gov (United States)

    Tower, Robert J; Fagarasanu, Andrei; Aitchison, John D; Rachubinski, Richard A

    2011-05-15

    Peroxisomes are ubiquitous organelles involved in diverse metabolic processes, most notably the metabolism of lipids and the detoxification of reactive oxygen species. Peroxisomes are highly dynamic and change in size and number in response to both intra- and extracellular cues. In the yeast Saccharomyces cerevisiae, peroxisome growth and division are controlled by both the differential import of soluble matrix proteins and a specialized divisional machinery that includes peroxisome-specific factors, such as members of the Pex11 protein family, and general organelle divisional factors, such as the dynamin-related protein Vps1p. Global yeast two-hybrid analyses have demonstrated interactions between the product of the S. cerevisiae gene of unknown function, YCL056c, and Pex proteins involved in peroxisome biogenesis. Here we show that the protein encoded by YCL056c, renamed Pex34p, is a peroxisomal integral membrane protein that acts independently and also in concert with the Pex11 protein family members Pex11p, Pex25p, and Pex27p to control the peroxisome populations of cells under conditions of both peroxisome proliferation and constitutive peroxisome division. Yeast two-hybrid analysis showed that Pex34p interacts physically with itself and with Pex11p, Pex25p, and Pex27p but not with Vps1p. Pex34p can act as a positive effector of peroxisome division as its overexpression leads to increased numbers of peroxisomes in wild type and pex34Δ cells. Pex34p requires the Pex11 family proteins to promote peroxisome division. Our discovery of Pex34p as a protein involved in the already complex control of peroxisome populations emphasizes the necessity of cells to strictly regulate their peroxisome populations to be able to respond appropriately to changing environmental conditions.

  19. PEX16: a multifaceted regulator of peroxisome biogenesis

    Directory of Open Access Journals (Sweden)

    Peter eKim

    2013-09-01

    Full Text Available Peroxisomes are formed by two distinct pathways: the growth and fission of mature peroxisomes and de novo synthesis at the endoplasmic reticulum (ER. While many of the molecular mechanisms underlying these two pathways remain to be elucidated, it is generally accepted that their relative contribution to peroxisome formation may vary depending on the species, cell type and/or physiological status of the organism. One pertinent example of the apparent differences in the regulation of peroxisome biogenesis among evolutionarily diverse species is the involvement of the peroxin PEX16. In Yarrowia lipolytica, for instance, PEX16 is an intraperoxisomal peripheral membrane protein that participates in peroxisomal fission. By contrast, Human PEX16 is an integral membrane protein that is thought to function at the ER during the early stages of de novo peroxisome formation and also recruits peroxisomal membrane proteins directly to mature peroxisomes. Similarly, PEX16 in the plant Arabidopsis thaliana is speculated to be a PMP receptor at the ER and peroxisomes, and is also required for the formation of other ER-derived organelles, such as oil and protein bodies. Here we briefly review the current knowledge of Y. lipolytica, human and A. thaliana PEX16 in the context of our overall understanding of peroxisome biogenesis and the role of the ER in this process in these three divergent species.

  20. Cysteine-specific ubiquitination protects the peroxisomal import receptor Pex5p against proteasomal degradation.

    Science.gov (United States)

    Schwartzkopff, Benjamin; Platta, Harald W; Hasan, Sohel; Girzalsky, Wolfgang; Erdmann, Ralf

    2015-05-14

    Peroxisomal matrix protein import is mediated by dynamic import receptors, which cycle between the peroxisomal membrane and the cytosol. Proteins with a type 1 peroxisomal targeting signal (PTS1) are bound by the import receptor Pex5p in the cytosol and guided to the peroxisomal membrane. After cargo translocation into the peroxisomal matrix, the receptor is released from the membrane back to the cytosol in an ATP-dependent manner by the AAA-type ATPases Pex1p and Pex6p. These mechanoenzymes recognize ubiquitinated Pex5p-species as substrates for membrane extraction. The PTS1-receptor is either polyubiquitinated via peptide bonds at two certain lysines and results in proteasomal degradation or monoubiquitinated via a thioester-bond at a conserved cysteine, which enables the recycling of Pex5p and further rounds of matrix protein import. To investigate the physiological relevance of the conserved N-terminal cysteine of Pex5p, the known target amino acids for ubiquitination were substituted by site-directed mutagenesis. In contrast with Pex5pC6A, Pex5pC6K turned out to be functional in PTS1 import and utilization of oleic acid, independent of the lysines at position 18 and 24. In contrast with wild-type Pex5p, Pex5pC6K displays an ubiquitination pattern, similar to the polyubiquitination pattern of Pex4p or Pex22p mutant strains. Moreover, Pex5pC6K displays a significantly reduced steady-state level when the deubiquitinating enzyme Ubp15p is missing. Thus, our results indicate that not the cysteine residue but the position of ubiquitination is important for Pex5p function. The presence of the cysteine prevents polyubiquitination and rapid degradation of Pex5p. © 2015 Authors.

  1. The peroxisomal membrane protein Pex14p of Hansenula polymorpha is phosphorylated in vivo

    OpenAIRE

    Komori, M; Kiel, JAKW; Veenhuis, M

    1999-01-01

    Hansenula polymorpha Pex14p (HpPex14p) is a component of the peroxisomal membrane essential for peroxisome biogenesis, Here, we show that HpPex14p is phosphorylated in vivo. In wild-type H, polymorpha cells, grown in the presence of [P-32]orthophosphate, the 32P label was incorporated into HpPex14p. Labelled HpPex14p was induced after a shift of cells to methanol-containing media and rapidly disappeared after a shift to glucose medium, which induces specific peroxisome degradation. Alkaline p...

  2. An ancestral role in peroxisome assembly is retained by the divisional peroxin Pex11 in the yeast Yarrowia lipolytica.

    Science.gov (United States)

    Chang, Jinlan; Klute, Mary J; Tower, Robert J; Mast, Fred D; Dacks, Joel B; Rachubinski, Richard A

    2015-04-01

    The peroxin Pex11 has a recognized role in peroxisome division. Pex11p remodels and elongates peroxisomal membranes prior to the recruitment of dynamin-related GTPases that act in membrane scission to divide peroxisomes. We performed a comprehensive comparative genomics survey to understand the significance of the evolution of the Pex11 protein family in yeast and other eukaryotes. Pex11p is highly conserved and ancestral, and has undergone numerous lineage-specific duplications, whereas other Pex11 protein family members are fungal-specific innovations. Functional characterization of the in-silico-predicted Pex11 protein family members of the yeast Yarrowia lipolytica, i.e. Pex11p, Pex11Cp and Pex11/25p, demonstrated that Pex11Cp and Pex11/25p have a role in the regulation of peroxisome size and number characteristic of Pex11 protein family members. Unexpectedly, deletion of PEX11 in Y. lipolytica produces cells that lack morphologically identifiable peroxisomes, mislocalize peroxisomal matrix proteins and preferentially degrade peroxisomal membrane proteins, i.e. they exhibit the classical pex mutant phenotype, which has not been observed previously in cells deleted for the PEX11 gene. Our results are consistent with an unprecedented role for Pex11p in de novo peroxisome assembly. © 2015. Published by The Company of Biologists Ltd.

  3. PEX Genes in Fungal Genomes : Common, Rare or Redundant

    NARCIS (Netherlands)

    Kiel, Jan A.K.W.; Veenhuis, Marten; Klei, Ida J. van der

    2006-01-01

    PEX genes encode proteins, termed peroxins, that are required for the biogenesis and proliferation of microbodies (peroxisomes). We have screened the available protein and DNA databases to identify putative peroxin orthologs in 17 fungal species (yeast and filamentous fungi) and in humans. This

  4. A subtle interplay between three Pex11 proteins shapes de novo formation and fission of peroxisomes.

    Science.gov (United States)

    Huber, Anja; Koch, Johannes; Kragler, Friedrich; Brocard, Cécile; Hartig, Andreas

    2012-01-01

    The organization of eukaryotic cells into membrane-bound compartments must be faithfully sustained for survival of the cell. A subtle equilibrium exists between the degradation and the proliferation of organelles. Commonly, proliferation is initiated by a membrane remodeling process. Here, we dissect the function of proteins driving organelle proliferation in the particular case of peroxisomes. These organelles are formed either through a growth and division process from existing peroxisomes or de novo from the endoplasmic reticulum (ER). Among the proteins involved in the biogenesis of peroxisomes, peroxins, members of the Pex11 protein family participate in peroxisomal membrane alterations. In the yeast Saccharomyces cerevisiae, the Pex11 family consists of three proteins, Pex11p, Pex25p and Pex27p. Here we demonstrate that yeast mutants lacking peroxisomes require the presence of Pex25p to regenerate this organelle de novo. We also provide evidence showing that Pex27p inhibits peroxisomal function and illustrate that Pex25p initiates elongation of the peroxisomal membrane. Our data establish that although structurally conserved each of the three Pex11 protein family members plays a distinct role. While ScPex11p promotes the proliferation of peroxisomes already present in the cell, ScPex25p initiates remodeling at the peroxisomal membrane and ScPex27p acts to counter this activity. In addition, we reveal that ScPex25p acts in concert with Pex3p in the initiation of de novo peroxisome biogenesis from the ER. © 2011 John Wiley & Sons A/S.

  5. Association between pseudoexfoliation syndrome and sensorineural hearing loss

    Directory of Open Access Journals (Sweden)

    Ahmed Mohamed Kamal Elshafei

    2015-01-01

    The prevalence and severity of SNHL increases in cases of PXF compared with age-matched controls. This is not affected by the laterality of ocular involvement, or the presence or absence of cataract or glaucoma. This confirms the systemic nature of the disease and may add to difficulties during ophthalmic surgery when performed under local anesthesia due to difficulty in communication.

  6. The membrane peroxin PEX3 induces peroxisome-ubiquitination-linked pexophagy

    Science.gov (United States)

    Yamashita, Shun-ichi; Abe, Kakeru; Tatemichi, Yuki; Fujiki, Yukio

    2014-01-01

    Peroxisomes are degraded by a selective type of autophagy known as pexophagy. Several different types of pexophagy have been reported in mammalian cells. However, the mechanisms underlying how peroxisomes are recognized by autophagy-related machinery remain elusive. PEX3 is a peroxisomal membrane protein (PMP) that functions in the import of PMPs into the peroxisomal membrane and has been shown to interact with pexophagic receptor proteins during pexophagy in yeast. Thus, PEX3 is important not only for peroxisome biogenesis, but also for peroxisome degradation. However, whether PEX3 is involved in the degradation of peroxisomes in mammalian cells is unclear. Here, we report that high levels of PEX3 expression induce pexophagy. In PEX3-loaded cells, peroxisomes are ubiquitinated, clustered, and degraded in lysosomes. Peroxisome targeting of PEX3 is essential for the initial step of this degradation pathway. The degradation of peroxisomes is inhibited by treatment with autophagy inhibitors or siRNA against NBR1, which encodes an autophagic receptor protein. These results indicate that ubiquitin- and NBR1-mediated pexophagy is induced by increased expression of PEX3 in mammalian cells. In addition, another autophagic receptor protein, SQSTM1/p62, is required only for the clustering of peroxisomes. Expression of a PEX3 mutant with substitution of all lysine and cysteine residues by arginine and alanine, respectively, also induces peroxisome ubiquitination and degradation, hence suggesting that ubiquitination of PEX3 is dispensable for pexophagy and an endogenous, unidentified peroxisomal protein is ubiquitinated on the peroxisomal membrane. PMID:25007327

  7. Self-interaction of human Pex11pβ during peroxisomal growth and division.

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    Nina A Bonekamp

    Full Text Available Pex11 proteins are involved in membrane elongation and division processes associated with the multiplication of peroxisomes. Human Pex11pβ has recently been linked to a new disorder affecting peroxisome morphology and dynamics. Here, we have analyzed the exact membrane topology of Pex11pβ. Studies with an epitope-specific antibody and protease protection assays show that Pex11pβ is an integral membrane protein with two transmembrane domains flanking an internal region exposed to the peroxisomal matrix and N- and C-termini facing the cytosol. A glycine-rich internal region within Pex11pβ is dispensable for peroxisome membrane elongation and division. However, we demonstrate that an amphipathic helix (Helix 2 within the first N-terminal 40 amino acids is crucial for membrane elongation and self-interaction of Pex11pβ. Interestingly, we find that Pex11pβ self-interaction strongly depends on the detergent used for solubilization. We also show that N-terminal cysteines are not essential for membrane elongation, and that putative N-terminal phosphorylation sites are dispensable for Pex11pβ function. We propose that self-interaction of Pex11pβ regulates its membrane deforming activity in conjunction with membrane lipids.

  8. Intra-ER sorting of the peroxisomal membrane protein Pex3 relies on its luminal domain

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    Mohammad H. Fakieh

    2013-06-01

    Pex3 is an evolutionarily conserved type III peroxisomal membrane protein required for peroxisome formation. It is inserted into the ER membrane and sorted via an ER subdomain (the peroxisomal ER, or pER to peroxisomes. By constructing chimeras between Pex3 and the type III ER membrane protein Sec66, we have been able to separate the signals that mediate insertion of Pex3 into the ER from those that mediate sorting within the ER to the pER subdomain. The N-terminal 17-amino acid segment of Pex3 contains two signals that are each sufficient for sorting to the pER: a chimeric protein containing the N-terminal domain of Pex3 fused to the transmembrane and cytoplasmic segments of Sec66 sorts to the pER in wild type cells, and does not colocalise with peroxisomes. Subsequent transport to existing peroxisomes requires the Pex3 transmembrane segment. When expressed in Drosophila S2R+ cells, ScPex3 targeting to peroxisomes is dependent on the intra-ER sorting signals in the N-terminal segment. The N-terminal segments of both human and Drosophila Pex3 contain intra-ER sorting information and can replace that of ScPex3. Our analysis has uncovered the signals within Pex3 required for the various steps of its transport to peroxisomes. Our generation of versions of Pex3 that are blocked at each stage along its transport pathway provides a tool to dissect the mechanism, as well as the molecular machinery required at each step of the pathway.

  9. Role of Pex11p in Lipid Homeostasis in Yarrowia lipolytica

    Science.gov (United States)

    Dulermo, Rémi; Dulermo, Thierry; Gamboa-Meléndez, Heber; Thevenieau, France

    2015-01-01

    Peroxisomes are essential organelles in the cells of most eukaryotes, from yeasts to mammals. Their role in β-oxidation is particularly essential in yeasts; for example, in Saccharomyces cerevisiae, fatty acid oxidation takes place solely in peroxisomes. In this species, peroxisome biogenesis occurs when lipids are present in the culture medium, and it involves the Pex11p protein family: ScPex11p, ScPex25p, ScPex27p, and ScPex34p. Yarrowia lipolytica has three Pex11p homologues, which are YALI0C04092p (YlPex11p), YALI0C04565p (YlPex11C), and YALI0D25498p (Pex11/25p). We found that these genes are regulated by oleic acid, and as has been observed in other organisms, YlPEX11 deletion generated giant peroxisomes when mutant yeast were grown in oleic acid medium. Moreover, ΔYlpex11 was unable to grow on fatty acid medium and showed extreme dose-dependent sensitivity to oleic acid. Indeed, when the strain was grown in minimum medium with 0.5% glucose and 3% oleic acid, lipid body lysis and cell death were observed. Cell death and lipid body lysis may be partially explained by an imbalance in the expression of the genes involved in lipid storage, namely, DGA1, DGA2, and LRO1, as well as that of TGL4, which is involved in lipid remobilization. TGL4 deletion and DGA2 overexpression resulted in decreased oleic acid sensitivity and delayed cell death of ΔYlpex11, which probably stemmed from the release of free fatty acids into the cytoplasm. All these results show that YlPex11p plays an important role in lipid homeostasis in Y. lipolytica. PMID:25820522

  10. Identification of intragenic mutations in the Hansenula polymorpha PEX6 gene that affect peroxisome biogenesis and methylotrophic growth

    NARCIS (Netherlands)

    Stasyk, OV; Nazarko, VY; Pochapinsky, OD; Nazarko, TY; Veenhuis, M; Sibirny, AA; Stasyk, Oleh V.; Nazarko, Volodymyr Y.; Pochapinsky, Olexiy D.; Nazarko, Taras Y.

    2003-01-01

    Two interacting AAA ATPases, Pex1p and Pex6p, are indispensable for peroxisome biogenesis in different organisms. Mutations affecting corresponding genes are the most common cause of the peroxisome biogenesis disorders in humans. By UV mutagenesis of the Hansenula polymorpha pex6 mutant, deficient

  11. Role of Lysyl oxidase-like 1 gene polymorphisms in Pakistani patients with pseudoexfoliative glaucoma

    NARCIS (Netherlands)

    Micheal, S.; Khan, M.I.; Akhtar, F.; Ali, M.; Ahmed, A.; Hollander, A.I. den; Qamar, R.

    2012-01-01

    PURPOSE: Single nucleotide polymorphisms (SNPs) rs1048661 (p.R141L) and rs3825942 (p.G153D) in the lysyl oxidase-like 1 (LOXL1) gene have been previously reported to be associated with pseudoexfoliation glaucoma (PEXG) in various Asian and European populations, but these SNPs have not yet been

  12. New insights into the distribution, protein abundance and subcellular localisation of the endogenous peroxisomal biogenesis proteins PEX3 and PEX19 in different organs and cell types of the adult mouse.

    Science.gov (United States)

    Colasante, Claudia; Chen, Jiangping; Ahlemeyer, Barbara; Bonilla-Martinez, Rocio; Karnati, Srikanth; Baumgart-Vogt, Eveline

    2017-01-01

    Peroxisomes are ubiquitous organelles mainly involved in ROS and lipid metabolism. Their abundance, protein composition and metabolic function vary depending on the cell type and adjust to different intracellular and environmental factors such as oxidative stress or nutrition. The biogenesis and proliferation of these important organelles are regulated by proteins belonging to the peroxin (PEX) family. PEX3, an integral peroxisomal membrane protein, and the cytosolic shuttling receptor PEX19 are thought to be responsible for the early steps of peroxisome biogenesis and assembly of their matrix protein import machinery. Recently, both peroxins were suggested to be also involved in the autophagy of peroxisomes (pexophagy). Despite the fact that distribution and intracellular abundance of these proteins might regulate the turnover of the peroxisomal compartment in a cell type-specific manner, a comprehensive analysis of the endogenous PEX3 and PEX19 distribution in different organs is still missing. In this study, we have therefore generated antibodies against endogenous mouse PEX3 and PEX19 and analysed their abundance and subcellular localisation in various mouse organs, tissues and cell types and compared it to the one of three commonly used peroxisomal markers (PEX14, ABCD3 and catalase). Our results revealed that the abundance of PEX3, PEX19, PEX14, ABCD3 and catalase strongly varies in the analysed organs and cell types, suggesting that peroxisome abundance, biogenesis and matrix protein import are independently regulated. We further found that in some organs, such as heart and skeletal muscle, the majority of the shuttling receptor PEX19 is bound to the peroxisomal membrane and that a strong variability exists in the cell type-specific ratio of cytosol- and peroxisome-associated PEX19. In conclusion, our results indicate that peroxisomes in various cell types are heterogeneous with regards to their matrix, membrane and biogenesis proteins.

  13. Pex3-anchored Atg36 tags peroxisomes for degradation in Saccharomyces cerevisiae

    Science.gov (United States)

    Motley, Alison M; Nuttall, James M; Hettema, Ewald H

    2012-01-01

    Peroxisomes undergo rapid, selective autophagic degradation (pexophagy) when the metabolic pathways they contain are no longer required for cellular metabolism. Pex3 is central to the formation of peroxisomes and their segregation because it recruits factors specific for these functions. Here, we describe a novel Saccharomyces cerevisiae protein that interacts with Pex3 at the peroxisomal membrane. We name this protein Atg36 as its absence blocks pexophagy, and its overexpression induces pexophagy. We have isolated pex3 alleles blocked specifically in pexophagy that cannot recruit Atg36 to peroxisomes. Atg36 is recruited to mitochondria if Pex3 is redirected there, where it restores mitophagy in cells lacking the mitophagy receptor Atg32. Furthermore, Atg36 binds Atg8 and the adaptor Atg11 that links receptors for selective types of autophagy to the core autophagy machinery. Atg36 delivers peroxisomes to the preautophagosomal structure before being internalised into the vacuole with peroxisomes. We conclude that Pex3 recruits the pexophagy receptor Atg36. This reinforces the pivotal role played by Pex3 in coordinating the size of the peroxisome pool, and establishes its role in pexophagy in S. cerevisiae. PMID:22643220

  14. PEX11β induces peroxisomal gene expression and alters peroxisome number during early Xenopus laevis development

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    Damjanovski Sashko

    2011-04-01

    Full Text Available Abstract Background Peroxisomes are organelles whose roles in fatty acid metabolism and reactive oxygen species elimination have contributed much attention in understanding their origin and biogenesis. Many studies have shown that de novo peroxisome biogenesis is an important regulatory process, while yeast studies suggest that total peroxisome numbers are in part regulated by proteins such as Pex11, which can facilitate the division of existing peroxisomes. Although de novo biogenesis and divisions are likely important mechanisms, the regulation of peroxisome numbers during embryonic development is poorly understood. Peroxisome number and function are particularly crucial in oviparous animals such as frogs where large embryonic yolk and fatty acid stores must be quickly metabolized, and resulting reactive oxygen species eliminated. Here we elucidate the role of Pex11β in regulating peroxisomal gene expression and number in Xenopus laevis embryogenesis. Results Microinjecting haemagglutinin (HA tagged Pex11β in early embryos resulted in increased RNA levels for peroxisome related genes PMP70 and catalase at developmental stages 10 and 20, versus uninjected embryos. Catalase and PMP70 proteins were found in punctate structures at stage 20 in control embryos, whereas the injection of ectopic HA-Pex11β induced their earlier localization in punctate structures at stage 10. Furthermore, the peroxisomal marker GFP-SKL, which was found localized as peroxisome-like structures at stage 20, was similarly found at stage 10 when co-microinjected with HA-Pex11β. Conclusions Overexpressed Pex11β altered peroxisomal gene levels and induced the early formation of peroxisomes-like structures during development, both of which demonstrate that Pex11β may be a key regulator of peroxisome number in early Xenopus embryos.

  15. Degradation of specific aromatic compounds migrating from PEX pipes into drinking water.

    Science.gov (United States)

    Ryssel, Sune Thyge; Arvin, Erik; Lützhøft, Hans-Christian Holten; Olsson, Mikael Emil; Procházková, Zuzana; Albrechtsen, Hans-Jørgen

    2015-09-15

    Nine specific compounds identified to migrate from polyethylene (PE) and cross-linked polyethylene (PEX) to drinking water were investigated for their degradation in drinking water. Three sample types were studied: field samples (collected at consumer taps), PEX pipe water extractions, and water samples spiked with target compounds. Four compounds were quantified in field samples at concentrations of 0.15-8.0 μg/L. During PEX pipe water extraction 0.42 ± 0.20 mg NVOC/L was released and five compounds quantified (0.5-6.1 μg/L). The degradation of these compounds was evaluated in PEX-pipe water extractions and spiked samples. 4-ethylphenol was degraded within 22 days. Eight compounds were, however, only partially degradable under abiotic and biotic conditions within the timeframe of the experiments (2-4 weeks). Neither inhibition nor co-metabolism was observed in the presence of acetate or PEX pipe derived NVOC. Furthermore, the degradation in drinking water from four different locations with three different water works was similar. In conclusion, eight out of the nine compounds studied would - if being released from the pipes - reach consumers with only minor concentration decrease during water distribution. Copyright © 2015 Elsevier Ltd. All rights reserved.

  16. Pex11p plays a primary role in medium-chain fatty acid oxidation, a process that affects peroxisome number and size in Saccharomyces cerevisiae

    NARCIS (Netherlands)

    van Roermund, C. W.; Tabak, H. F.; van den Berg, M.; Wanders, R. J.; Hettema, E. H.

    2000-01-01

    The Saccharomyces cerevisiae peroxisomal membrane protein Pex11p has previously been implicated in peroxisome proliferation based on morphological observations of PEX11 mutant cells. Pex11p-deficient cells fail to increase peroxisome number in response to growth on fatty acids and instead accumulate

  17. The functions of PEX genes in peroxisome biogenesis and pathogenicity in phytopathogenic fungi.

    Science.gov (United States)

    Gao, Fei-Yan; Li, Ling; Wang, Jiao-Yu; Wang, Yan-Li; Sun, Guo-Chang

    2017-10-20

    Peroxisomes are cellular organelles present ubiquitously in eukaryotic cells and are involved in β-oxidation, glyoxylate cycle and a variety of biochemical metabolisms. Recently peroxisomes have been demonstrated to play vital roles in the host infection processes by plant fungal pathogens. The biogenesis of peroxisomes requires a category of proteins named peroxins, which are encoded by the PEX genes. So far, more than 10 PEX genes were isolated in phytopathogenic fungi, and significant research efforts are focused on the mechanism of peroxisome formation and the roles of peroxisome in the development and pathogenicity of fungal pathogens. In this review, we summarize the latest advances in peroxisome biogenesis and functions in pathogenic fungi, including the roles of PEXs in life cycle of peroxisome, peroxisome related metabolisms, and fungal development, infection and pathogenicity, in order to provide references for future studies in plant pathogenic fungi and the control of disease.

  18. MYOCILIN LEVELS IN PRIMARY OPEN-ANGLE GLAUCOMA AND PSEUDOEXFOLIATION GLAUCOMA HUMAN AQUEOUS HUMOR

    Science.gov (United States)

    Howell, Kyle G.; Vrabel, Anne M.; Chowdhury, Uttio Roy; Stamer, W. Daniel; Fautsch, Michael P.

    2010-01-01

    Purpose To determine the concentration of myocilin in primary open-angle and pseudoexfoliation glaucoma aqueous humor. Methods Aqueous humor was collected during surgery from patients with primary open-angle glaucoma (POAG), pseudoexfoliation glaucoma (PEXG), and elective cataract removal (control). Volume-equivalent aqueous samples were separated on SDS-PAGE gradient gels. Quantification of myocilin levels was performed using Western blots probed with two independent N-terminal polyclonal anti-myocilin antibodies (AB1 and AB2) followed by densitometry. Myocilin levels in aqueous humor were quantified by plotting the densitometry readings of the aqueous samples against a recombinant myocilin standard curve. Total protein concentration was determined by Bradford protein assay. Transforming growth factor beta 2 (TGFβ2) levels were assessed by ELISA. Results Myocilin levels are significantly elevated in human POAG aqueous humor when compared to control aqueous humor (AB1: 0.66 ± 0.53 ng/μl vs. 0.23 ± 0.20 ng/μl, phumor compared to control aqueous (AB1: 0.26 ± 0.20% vs. 0.10 ± 0.20%, phumor when compared to control aqueous humor. No correlation between myocilin and TGFβ2 levels was observed. Conclusions Myocilin is elevated in POAG, but not PEXG aqueous humor. PMID:20179615

  19. Risk factors for anterior capsule contraction syndrome with polypropylene or poly(methyl methacrylate) haptics.

    Science.gov (United States)

    Gallagher, S P; Pavilack, M A

    1999-10-01

    To determine the effect of haptic composition on the development of anterior capsule contraction syndrome (CCS) requiring neodymium: YAG anterior capsulotomy. Ophthalmology practice in Lancaster, Pennsylvania, USA. This retrospective study covered a 30 month period during which 1 surgeon discontinued implanting AMO SI-30NB intraocular lenses (IOLs) with polypropylene haptics (n = 216) in favor of SI-40NB IOLs with poly(methyl methacrylate) (PMMA) haptics (n = 127). The transition was motivated by the suspicion that the PMMA haptics would maintain the capsulorhexis opening better and reduce the need for an anterior capsulotomy. Three eyes with SI-30NB IOLs (1.4%) required anterior capsulotomies; 2 eyes had preoperative pseudoexfoliation syndrome and required the capsulotomy within 3 months of surgery. Three eyes with SI-40NB IOLs (2.4%) required anterior capsulotomies within 4 months; 2 eyes had preoperative pseudoexfoliation syndrome and 1 had traumatic zonular weakness. The incidence of anterior capsulotomy did not differ significantly between the 2 IOL populations (P > .5), although preoperative pseudoexfoliation syndrome was a significant risk factor in both groups (P PMMA haptics of the SI-40NB IOL did not differ significantly in their ability to prevent CCS requiring anterior capsulotomy. Regardless of IOL haptic composition, eyes with preoperative zonular weakness associated with pseudoexfoliation syndrome or ocular trauma can develop CCS within 3 months of surgery and should, therefore, be followed closely in the early postoperative weeks to minimize the sequelae of anterior capsule fibrosis.

  20. Pex11pbeta-mediated growth and division of mammalian peroxisomes follows a maturation pathway.

    Science.gov (United States)

    Delille, Hannah K; Agricola, Brigitte; Guimaraes, Sofia C; Borta, Heike; Lüers, Georg H; Fransen, Marc; Schrader, Michael

    2010-08-15

    Peroxisomes are ubiquitous subcellular organelles, which multiply by growth and division but can also form de novo via the endoplasmic reticulum. Growth and division of peroxisomes in mammalian cells involves elongation, membrane constriction and final fission. Dynamin-like protein (DLP1/Drp1) and its membrane adaptor Fis1 function in the later stages of peroxisome division, whereas the membrane peroxin Pex11pbeta appears to act early in the process. We have discovered that a Pex11pbeta-YFP(m) fusion protein can be used as a specific tool to further dissect peroxisomal growth and division. Pex11pbeta-YFP(m) inhibited peroxisomal segmentation and division, but resulted in the formation of pre-peroxisomal membrane structures composed of globular domains and tubular extensions. Peroxisomal matrix and membrane proteins were targeted to distinct regions of the peroxisomal structures. Pex11pbeta-mediated membrane formation was initiated at pre-existing peroxisomes, indicating that growth and division follows a multistep maturation pathway and that formation of mammalian peroxisomes is more complex than simple division of a pre-existing organelle. The implications of these findings on the mechanisms of peroxisome formation and membrane deformation are discussed.

  1. Pex19p Contributes to Peroxisome Inheritance in the Association of Peroxisomes to Myo2p

    NARCIS (Netherlands)

    Otzen, Marleen; Rucktaeschel, Robert; Thoms, Sven; Ernmrich, Kerstin; Krikken, Arjen M.; Erdmann, Ralf; van der Klei, Ida J.; Emmrich, Kerstin; Krikken, A.M.

    During budding of yeast cells peroxisomes are distributed over mother cell and bud, a process that involves the myosin motor protein Myo2p and the peroxisomal membrane protein Inp2p. Here, we show that Pex19p, a peroxin implicated in targeting and complex formation of peroxisomal membrane proteins,

  2. Identity and biodegradability of organic compounds migrating from PEX pipes used in water installations in buildings

    DEFF Research Database (Denmark)

    Arvin, Erik; Albrechtsen, Hans-Jørgen; Corfitzen, Charlotte B.

    2012-01-01

    Migration of organic compounds from PEX pipes used in water installations in buildings was investigated by batch set ups. Several compounds were identified and quantified. The organic compounds released to the water phase could support microbial growth and a few of the identified compounds...

  3. Non-surgical Adult Male Circumcision Using the PrePex Device ...

    African Journals Online (AJOL)

    The Republic of Rwanda is implementing a program of voluntary male circumcision (MC) to reduce HIV transmission but lacks the infrastructure for conventional surgical MC on a nationwide scale. Nonsurgical MC using the PrePex device was first assessed in 5 subjects on an inpatient basis. Subsequent procedures were ...

  4. Molecular Recognition of PTS-1 Cargo Proteins by Pex5p: Implications for Protein Mistargeting in Primary Hyperoxaluria

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    Noel Mesa-Torres

    2015-02-01

    Full Text Available Peroxisomal biogenesis and function critically depends on the import of cytosolic proteins carrying a PTS1 sequence into this organelle upon interaction with the peroxin Pex5p. Recent structural studies have provided important insights into the molecular recognition of cargo proteins by Pex5p. Peroxisomal import is a key feature in the pathogenesis of primary hyperoxaluria type 1 (PH1, where alanine:glyoxylate aminotransferase (AGT undergoes mitochondrial mistargeting in about a third of patients. Here, we study the molecular recognition of PTS1 cargo proteins by Pex5p using oligopeptides and AGT variants bearing different natural PTS1 sequences, and employing an array of biophysical, computational and cell biology techniques. Changes in affinity for Pex5p (spanning over 3–4 orders of magnitude reflect different thermodynamic signatures, but overall bury similar amounts of molecular surface. Structure/energetic analyses provide information on the contribution of ancillary regions and the conformational changes induced in Pex5p and the PTS1 cargo upon complex formation. Pex5p stability in vitro is enhanced upon cargo binding according to their binding affinities. Moreover, we provide evidence that the rational modulation of the AGT: Pex5p binding affinity might be useful tools to investigate mistargeting and misfolding in PH1 by pulling the folding equilibria towards the native and peroxisomal import competent state.

  5. OsPEX11, a peroxisomal biogenesis factor 11, contributes to salt stress tolerance in Oryza sativa

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    Cui Peng

    2016-09-01

    Full Text Available Peroxisomes are single membrane-bound organelles, whose basic enzymatic constituents are catalase and H2O2-producing flavin oxidases. Previous reports showed that peroxisome is involved in numerous processes including primary and secondary metabolism, plant development and abiotic stress responses. However, knowledge on the function of different peroxisome genes from rice and its regulatory roles in salt and other abiotic stresses is limited. Here, a novel prey protein, OsPEX11 (Os03g0302000, was screened and identified by yeast two-hybrid and GST pull down assays. Phenotypic analysis of OsPEX11 overexpression seedlings demonstrated that they had better tolerance to salt stress than wild type and OsPEX11-RNAi seedlings. Compared with wild type and OsPEX11-RNAi seedlings, overexpression of OsPEX11 had lower level of lipid peroxidation, Na+/K+ ratio, higher activities of antioxidant enzymes (SOD, POD and CAT and proline accumulation. Furthermore, qPCR data suggested that OsPEX11 acted as a positive regulator of salt tolerance by reinforcing the expression of several well-known rice transporters (OsHKT2;1, OsHKT1;5, OsLti6a, OsLti6b, OsSOS1, OsNHX1 and OsAKT1 involved in Na+/K+ homeostasis in transgenic plants under salinity. Ultrastructural observations of OsPEX11-RNAi seedlings showed that they were less sensitive to salt stress than wild type and overexpression lines. These results provide experimental evidence that OsPEX11 is an important gene implicated in Na+ and K+ regulation, and plays a critical role in salt stress tolerance by modulating the expression of cation transporters and antioxidant defense. Thus, OsPEX11 could be considered in transgenic breeding for improvement of salt stress tolerance in rice crop.

  6. One of Three Pex11 Family Members Is Required for Peroxisomal Proliferation and Full Virulence of the Rice Blast Fungus Magnaporthe oryzae.

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    Jiaoyu Wang

    Full Text Available Peroxisomes play important roles in metabolisms of eukaryotes and infection of plant fungal pathogens. These organelles proliferate by de novo formation or division in response to environmental stimulation. Although the assembly of peroxisomes was documented in fungal pathogens, their division and its relationship to pathogenicity remain obscure. In present work, we analyzed the roles of three Pex11 family members in peroxisomal division and pathogenicity of the rice blast fungus Magnaporthe oryzae. Deletion of MoPEX11A led to fewer but enlarged peroxisomes, and impaired the separation of Woronin bodies from peroxisomes, while deletion of MoPEX11B or MoPEX11C put no evident impacts to peroxisomal profiles. MoPEX11A mutant exhibited typical peroxisome related defects, delayed conidial germination and appressoria formation, and decreased appressorial turgor and host penetration. As a result, the virulence of MoPEX11A mutant was greatly reduced. Deletion of MoPEX11B and MoPEX11C did not alter the virulence of the fungus. Further, double or triple deletions of the three genes were unable to enhance the virulence decrease in MoPEX11A mutant. Our data indicated that MoPEX11A is the main factor modulating peroxisomal division and is required for full virulence of the fungus.

  7. The cleaning method selected for new PEX pipe installation can affect short-term drinking water quality.

    Science.gov (United States)

    Kelley, Keven M; Stenson, Alexandra C; Cooley, Racheal; Dey, Rajarashi; Whelton, Andrew J

    2015-12-01

    The influence of four different cleaning methods used for newly installed polyethylene (PEX) pipes on chemical and odor quality was determined. Bench-scale testing of two PEX (type b) pipe brands showed that the California Plumbing Code PEX installation method does not maximize total organic carbon (TOC) removal. TOC concentration and threshold odor number values significantly varied between two pipe brands. Different cleaning methods impacted carbon release, odor, as well the level of drinking water odorant ethyl tert-butyl ether. Both pipes caused odor values up to eight times greater than the US federal drinking water odor limit. Unique to this project was that organic chemicals released by PEX pipe were affected by pipe brand, fill/empty cycle frequency, and the pipe cleaning method selected by the installer.

  8. Reports and recommendations from COSPAR Planetary Exploration Committee (PEX) & International Lunar Exploration Working Group (ILEWG)

    Science.gov (United States)

    Ehrenfreund, Pascale; Foing, Bernard

    2014-05-01

    In response to the growing importance of space exploration, the objectives of the COSPAR Panel on Exploration (PEX) are to provide high quality, independent science input to support the development of a global space exploration program while working to safeguard the scientific assets of solar system bodies. PEX engages with COSPAR Commissions and Panels, science foundations, IAA, IAF, UN bodies, and IISL to support in particular national and international space exploration working groups and the new era of planetary exploration. COSPAR's input, as gathered by PEX, is intended to express the consensus view of the international scientific community and should ultimately provide a series of guidelines to support future space exploration activities and cooperative efforts, leading to outstanding scientific discoveries, opportunities for innovation, strategic partnerships, technology progression, and inspiration for people of all ages and cultures worldwide. We shall focus on the lunar exploration aspects, where the COSPAR PEX is building on previous COSPAR, ILEWG and community conferences. An updated COSPAR PEX report is published and available online (Ehrenfreund P. et al, COSPAR planetary exploration panel report, http://www.gwu.edu/~spi/assets/COSPAR_PEX2012.pdf). We celebrate 20 years after the 1st International Conference on Exploration and Utilisation of the Moon at Beatenberg in June 1994. The International Lunar Exploration Working Group (ILEWG) was established the year after in April 1995 at an EGS meeting in Hamburg, Germany. As established in its charter, this working group reports to COSPAR and is charged with developing an international strategy for the exploration of the Moon (http://sci.esa.int/ilewg/ ). It discusses coordination between missions, and a road map for future international lunar exploration and utilisation. It fosters information exchange or potential and real future lunar robotic and human missions, as well as for new scientific and

  9. Bilateral spontaneous anterior dislocation of intraocular lens with the capsular bag in a patient with pseudoexfoliation

    Directory of Open Access Journals (Sweden)

    Harsha Bhattacharjee

    2015-01-01

    Full Text Available We report a rare case of bilateral spontaneous anterior partial in-the-bag intraocular lens (IOL dislocation in a 75-year-old man with pseudoexfoliation (PXF. He underwent uneventful phacoemulsification in both eyes with in-the-bag IOL implantation 9 years back. In the right eye, single piece poly (methyl methacrylate (PMMA IOL (+19 D and in the left eye, single piece acrylic foldable IOL (+19 D were implanted. An attempt at pharmacological IOL repositioning was unsuccessful. The dislocated IOLs were explanted and exchanged with scleral suture fixated PMMA IOLs. Vision improved to 20/30 in both eyes following surgery, without any associated ocular morbidity. We believe that zonular weakness secondary to PXF, capsular contraction, and myopia together were the predisposing factors for partial anterior dislocation of IOLs and IOL exchange with scleral suture fixation of IOL is a safe and effective treatment option.

  10. Safety, effectiveness and acceptability of the PrePex device for adult male circumcision in Kenya.

    Directory of Open Access Journals (Sweden)

    Paul J Feldblum

    Full Text Available To assess the safety, effectiveness and acceptability of the PrePex device for adult medical male circumcision (MMC in routine service delivery in Kenya.We enrolled 427 men ages 18-49 at one fixed and two outreach clinics. Procedures were performed by trained clinical officers and nurses. The first 50 enrollees were scheduled for six follow-up visits, and remaining men were followed at Days 7 and 42. We recorded adverse events (AEs and time to complete healing, and interviewed men about acceptability and pain.Placement and removal procedures each averaged between 3 and 4 minutes. Self-reported pain was minimal during placement but was fleetingly intense during removal. The rate of moderate/severe AEs was 5.9% overall (95% confidence interval [CI] 3.8%-8.5%, all of which resolved without sequelae. AEs included 5 device displacements, 2 spontaneous foreskin detachments, and 9 cases of insufficient foreskin removal. Surgical completion of MMC was required for 9 men (2.1%. Among the closely monitored first 50 participants, the probability of complete healing by Day 42 was 0.44 (95% CI 0.30-0.58, and 0.90 by Day 56. A large majority of men was favorable about their MMC procedure and would recommend PrePex to friends and family.The PrePex device was effective for MMC in Kenya, and well-accepted. The AE rate was higher than reported for surgical procedures there, or in previous PrePex studies. Healing time is longer than following surgical circumcision. Provider experience and clearer counseling on post-placement and post-removal care should lead to lower AE rates.ClinicalTrials.gov NCT01711411.

  11. Pichia pastoris Pex 14p, a phosphorylated peroxisomal membrane protein, is part of a PTS-receptor docking complex and interacts with many peroxins

    OpenAIRE

    Johnson, Monique A.; Snyder, William B.; Cereghino, Joan Lin; Veenhuis, Marten; Subramani, Suresh; Cregg, James M.

    2001-01-01

    The peroxisomal protein import machinery plays a central role in the assembly of this organelle in all eukaryotes. Genes encoding components of this machinery, termed peroxins or Pex proteins, have been isolated and characterized in several yeast species and in mammals, including humans. Here we report on one of these components, Pex14p, from the methylotrophic yeast Pichia pastoris. Work in other organisms has shown that Pex14p is located on the cytoplasmic surface of the peroxisomal membran...

  12. Late-onset Zellweger spectrum disorder caused by PEX6 mutations mimicking X-linked adrenoleukodystrophy.

    Science.gov (United States)

    Tran, Christel; Hewson, Stacy; Steinberg, Steven J; Mercimek-Mahmutoglu, Saadet

    2014-08-01

    Zellweger spectrum disorder is an autosomal recessively inherited multisystem disorder caused by one of the 13 different PEX gene defects resulting in defective peroxisomal assembly and multiple peroxisomal enzyme deficiencies. We report a new patient with late-onset Zellweger spectrum disorder mimicking X-linked adrenoleukodystrophy. This 8.5-year-old boy with normal development until 6.5 years of age presented with bilateral sensorineural hearing loss during a school hearing test. He then developed acute-onset diplopia, clumsiness, and cognitive dysfunction at age 7 years. Magnetic resonance imaging of the brain revealed symmetric leukodystrophy, although without gadolinium enhancement. Elevated plasma very long chain fatty acid levels were suggestive of X-linked adrenoleukodystrophy, but his ABCD1 gene had normal coding sequence and dosage. Additional studies of cultured skin fibroblasts were consistent with Zellweger spectrum disorder. Molecular testing identified disease-causing compound heterozygous mutations in the PEX6 gene supporting the Zellweger spectrum disorder diagnosis in this patient. We describe a new patient with late-onset Zellweger spectrum disorder caused by PEX6 mutations who presented with an acute neurodegenerative disease course mimicking X-linked adrenoleukodystrophy. This finding provides an additional reason that molecular confirmation is important for the genetic counseling and management of patients with a clinical and biochemical diagnosis of X-linked adrenoleukodystrophy. Copyright © 2014 Elsevier Inc. All rights reserved.

  13. Elevated levels of plasma tumor necrosis factor alpha in patients with pseudoexfoliation glaucoma

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    Kondkar AA

    2018-01-01

    Full Text Available Altaf A Kondkar,1 Taif A Azad,1 Faisal A Almobarak,1 Hatem Kalantan,1 Saleh A Al-Obeidan,1 Khaled K Abu-Amero1,2 1Glaucoma Research Chair, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia; 2Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, IL, USA Background: Tumor necrosis factor alpha (TNF-α is a pro-inflammatory cytokine, which plays a role in glaucomatous neurodegeneration. Based on the plausible role of inflammation in the pathogenesis of pseudoexfoliation glaucoma (PEG, we investigated whether there is any relationship between the levels of plasma TNF-α and PEG or any of its clinical indices in comparison to normal controls.Methods: The study was designed as a retrospective analysis. Plasma samples from 49 PEG patients and 88 non-glaucomatous controls were evaluated for TNF-α levels using an enzyme-linked immunosorbent assay (ELISA. The assay was performed in duplicates on a biochemical/ELISA analyzer.Results: The two study groups were similar in age, sex and systemic disease distribution. The mean TNF-α concentration was significantly higher in the PEG patients (5.54±4.58 pg/mL than in the control subjects (0.93±1.49 pg/mL; 95% confidence interval [CI] =3.50–5.72; p=0.000. The overall dose–response trend was significant (χ2=57.07, df=2; p=0.000. A moderate positive and significant correlation was seen between TNF-α level and cup/disc ratio, an important clinical index for PEG. Besides, binary logistic regression analysis showed that the risk of PEG was most significantly affected by TNF-α level as compared to no association with age and sex. In receiver operating characteristic analysis, the area under the curve was 0.777 (95% CI =0.682–0.872 and statistically significant (p=0.000.Conclusion: Elevated systemic levels of inflammatory marker, TNF-α, are associated with PEG and may possibly serve as a biomarker for undiagnosed early

  14. Pex11a deficiency is associated with a reduced abundance of functional peroxisomes and aggravated renal interstitial lesions.

    Science.gov (United States)

    Weng, Huachun; Ji, Xu; Endo, Kosuke; Iwai, Naoharu

    2014-11-01

    Although proteinuria is known to be associated with the deterioration of chronic kidney disease, the molecular basis of this mechanism is not fully understood. We previously found that Pex11a deficiency was associated with a reduction of functional peroxisomes and impaired fatty acid metabolism in hepatocytes and resulted in steatosis. Proximal tubule cells are rich in peroxisomes. We assessed whether Pex11a deficiency might result in the derangement of peroxisome systems in proximal tubule cells and the aggravation of tubulointerstitial lesions in chronic kidney disease. Histological analyses showed that the number of functional peroxisomes in proximal tubule cells was reduced in Pex11a knockout (Pex11a(-/-)) mice. To clarify whether a decrease in the number of tubular peroxisomes might aggravate interstitial lesions, we assessed 2 models in which proximal tubule cells are overloaded with fatty acids (ie, deoxycorticosterone acetate and salt hypertension and the overload of fatty acid-bound albumin). Deoxycorticosterone acetate -salt-treated Pex11a(-/-) mice exhibited greater interstitial lesions than deoxycorticosterone acetate-salt-treated wild-type mice in terms of tubular lipid accumulation, blood pressure, urinary albumin, urinary N-acetyl-β-d-glucosaminidase, urinary 8-iso-prostane, and the histological evaluation of fibrosis and inflammation. An overload of fatty acid-bound albumin also resulted in more severe tubulointerstitial lesions in Pex11a(-/-) mice than in wild-type mice. Fenofibrate, a peroxisome proliferator-activated receptor-α agonist, restored the abundance of peroxisomes and reduced the tubulointerstitial lesions induced by deoxycorticosterone acetate-salt hypertension. In conclusion, our results indicate that proximal tubule peroxisomes play an important role in proteinuria-induced interstitial lesions. The activation of tubular peroxisomes might be an excellent therapeutic strategy against chronic kidney disease. © 2014 American Heart

  15. Differential protein expression in tears of patients with primary open angle and pseudoexfoliative glaucoma.

    Science.gov (United States)

    Pieragostino, Damiana; Bucci, Sonia; Agnifili, Luca; Fasanella, Vincenzo; D'Aguanno, Simona; Mastropasqua, Alessandra; Ciancaglini, Marco; Mastropasqua, Leonardo; Di Ilio, Carmine; Sacchetta, Paolo; Urbani, Andrea; Del Boccio, Piero

    2012-04-01

    Primary open angle (POAG) and pseudoexfoliative glaucoma (PXG) are the most common primary and secondary forms of glaucoma, respectively. Even though the patho-physiology, aqueous humor composition, risk factors, clinical features, therapy and drug induced ocular surface changes in POAG and PXG have been widely studied, to date information concerning tear protein characterization is lacking. Tears are a source of nourishment for ocular surface tissues and a vehicle to remove local waste products, metabolized drugs and inflammatory mediators produced in several ophthalmic diseases. In glaucoma, the proteomic definition of tears may provide insights concerning patho-physiology of the disease and ocular surface modifications induced by topical therapy. Our study aimed at characterizing protein patterns in tears of patients with medically controlled POAG and PXG. A comparative tears proteomic analysis by label-free LC-MS(E) highlighted differences in the expression of several proteins in the two glaucoma sub-types and control subjects, highlighting inflammation pathways expressed in both diseases. Results were independently reconfirmed by SDS-PAGE and linear MALDI-TOF MS, validating altered levels of Lysozyme C, Lipocalin-1, Protein S100, Immunoglobulins and Prolactin Inducible Protein. Moreover, we found a differential pattern of phosphorylated Cystatin-S that distinguishes the two pathologies. The most relevant results suggest that in both pathologies there may be active inflammation pathways related to the disease and/or induced by therapy. We show, for the first time, tear protein patterns expressed under controlled intraocular pressure conditions in POAG and PXG subjects. These findings could help in the understanding of molecular machinery underlying these ophthalmologic diseases, resulting in early diagnosis and more specific therapy.

  16. Corneal viscoelastic differences between pseudoexfoliative glaucoma and primary open-angle glaucoma.

    Science.gov (United States)

    Ozkok, Ahmet; Tamcelik, Nevbahar; Ozdamar, Akif; Sarici, Ahmet M; Cicik, Erdogan

    2013-12-01

    The aims of this study were to assess the biomechanical properties of corneas with pseudoexfoliative glaucoma (PEXG) and to compare them with those of patients with primary open-angle glaucoma (POAG). This prospective, comparative case series consisted of 73 eyes of 73 patients, 35 eyes with PEXG (PEXG group) and 38 eyes with POAG (POAG group). Corneal hysteresis (CH), corneal resistance factor (CRF), corneal-compensated intraocular pressure (IOPCC), and Goldmann-correlated intraocular pressure (IOPG) were determined by using ocular response analyzer (ORA). IOP using Goldmann applanation tonometer (GAT) and ultrasonic central corneal thickness (CCT) were also measured for each eye. Exclusion criteria included refractive error/astigmatism of >3.00 D, history of intraocular surgery, corneal disease, angle-closure glaucoma, and secondary glaucoma other than PEXG. In cases where both eyes were eligible, the right eye was preferred for analysis. The main outcome measures were CH, CRF, IOPCC, IOPG, and GAT. The results were statistically analyzed by using t test, general linear model, and the Pearson correlation test. The mean CH was found to be significantly lower in patients with PEXG (8.8 ± 1.4 mm Hg) than those with primary open-angle glaucoma (9.9 ± 1.2 mm Hg; P=0.0007). The mean CRF was found to be significantly lower in patients with PEXG (9.5 ± 1.8 mm Hg) than those with POAG (11.1 ± 1.3 mm Hg; Pbiomechanical properties between the 2 groups and its association with poor prognosis among patients with PEXG.

  17. Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata

    NARCIS (Netherlands)

    Brites, Pedro; Motley, Alison M.; Gressens, Pierre; Mooyer, Petra A. W.; Ploegaert, Ingrid; Everts, Vincent; Evrard, Philippe; Carmeliet, Peter; Dewerchin, Mieke; Schoonjans, Luc; Duran, Marinus; Waterham, Hans R.; Wanders, Ronald J. A.; Baes, Myriam

    2003-01-01

    Rhizomelic chondrodysplasia punctata is a human autosomal recessive disorder characterized by skeletal, eye and brain abnormalities. The disorder is caused by mutations in the PEX7 gene, which encodes the receptor for a class of peroxisomal matrix enzymes. We describe the generation and

  18. HS-SPME-GC-MS analysis of antioxidant degradation products migrating to drinking water from PE materials and PEX pipes

    DEFF Research Database (Denmark)

    Lützhøft, Hans-Christian Holten; Waul, Christopher Kevin; Andersen, Henrik Rasmus

    2013-01-01

    Polyethylene (PE) and cross-linked polyethylene (PEX) pipes are frequently used in water supply systems. Such pipes contain added antioxidants with phenolic structures, e.g. Irgafos 168, Irganox 1010 and 1076, in order to improve durability. However, phenol, ketone and quinone antioxidant degrada...

  19. Role of Pex21p for Piggyback Import of Gpd1p and Pnc1p into Peroxisomes of Saccharomyces cerevisiae.

    Science.gov (United States)

    Effelsberg, Daniel; Cruz-Zaragoza, Luis Daniel; Tonillo, Jason; Schliebs, Wolfgang; Erdmann, Ralf

    2015-10-16

    Proteins designated for peroxisomal protein import harbor one of two common peroxisomal targeting signals (PTS). In the yeast Saccharomyces cerevisiae, the oleate-induced PTS2-dependent import of the thiolase Fox3p into peroxisomes is conducted by the soluble import receptor Pex7p in cooperation with the auxiliary Pex18p, one of two supposedly redundant PTS2 co-receptors. Here, we report on a novel function for the co-receptor Pex21p, which cannot be fulfilled by Pex18p. The data establish Pex21p as a general co-receptor in PTS2-dependent protein import, whereas Pex18p is especially important for oleate-induced import of PTS2 proteins. The glycerol-producing PTS2 protein glycerol-3-phosphate dehydrogenase Gpd1p shows a tripartite localization in peroxisomes, in the cytosol, and in the nucleus under osmotic stress conditions. We show the following: (i) Pex21p is required for peroxisomal import of Gpd1p as well as a key enzyme of the NAD(+) salvage pathway, Pnc1p; (ii) Pnc1p, a nicotinamidase without functional PTS2, is co-imported into peroxisomes by piggyback transport via Gpd1p. Moreover, the specific transport of these two enzymes into peroxisomes suggests a novel regulatory role for peroxisomes under various stress conditions. © 2015 by The American Society for Biochemistry and Molecular Biology, Inc.

  20. The safety and acceptance of the PrePex device for non-surgical adult male circumcision in Rakai, Uganda. A non-randomized observational study.

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    Godfrey Kigozi

    Full Text Available To assess the safety and acceptance of the PrePex device for medical male circumcision (MMC in rural Uganda.In an observational study, HIV-uninfected, uncircumcised men aged 18 and older who requested elective MMC were informed about the PrePex and dorsal slit methods and offered a free choice of their preferred procedure. 100 men received PrePex to assess preliminary safety (aim 1. An additional 329 men, 250 chose PrePex and 79 chose Dorsal slit, were enrolled following approval by the Safety Monitoring Committee (aim 2. Men were followed up at 7 days to assess adverse events (AEs and to remove the PrePex device. Wound healing was assessed at 4 weeks, with subsequent weekly follow up until completed healing.The PrePex device was contraindicated in 5.7% of men due to a tight prepuce or phimosis/adhesions. Among 429 enrolled men 350 (82.0% got the PrePex device and 79 (18.0% the dorsal slit procedure. 250 of 329 men (76.0% who were invited to choose between the 2 procedures chose Prepex. There were 9 AEs (2.6% with the PrePex, of which 5 (1.4% were severe complications, 4 due to patient self-removal of the device leading to edema and urinary obstruction requiring emergency surgical circumcision, and one due to wound dehiscence following device removal. 71.8% of men reported an unpleasant odor prior to PrePex removal. Cumulative rates of completed wound healing with the PrePex were 56.7% at week 4, 84.8% week 5, 97.6% week 6 and 98.6% week 7, compared to 98.7% at week 4 with dorsal slit (p<0.0001.The PrePex device was well accepted, but healing was slower than with dorsal slit surgery. Severe complications, primarily following PrePex self-removal, required rapid access to emergency surgical facilities. The need to return for removal and delayed healing may increase Program cost and client burden.

  1. The safety and acceptance of the PrePex device for non-surgical adult male circumcision in Rakai, Uganda. A non-randomized observational study.

    Science.gov (United States)

    Kigozi, Godfrey; Musoke, Richard; Watya, Stephen; Kighoma, Nehemia; Nkale, James; Nakafeero, Mary; Namuguzi, Dan; Serwada, David; Nalugoda, Fred; Sewankambo, Nelson; Wawer, Maria Joan; Gray, Ronald Henry

    2014-01-01

    To assess the safety and acceptance of the PrePex device for medical male circumcision (MMC) in rural Uganda. In an observational study, HIV-uninfected, uncircumcised men aged 18 and older who requested elective MMC were informed about the PrePex and dorsal slit methods and offered a free choice of their preferred procedure. 100 men received PrePex to assess preliminary safety (aim 1). An additional 329 men, 250 chose PrePex and 79 chose Dorsal slit, were enrolled following approval by the Safety Monitoring Committee (aim 2). Men were followed up at 7 days to assess adverse events (AEs) and to remove the PrePex device. Wound healing was assessed at 4 weeks, with subsequent weekly follow up until completed healing. The PrePex device was contraindicated in 5.7% of men due to a tight prepuce or phimosis/adhesions. Among 429 enrolled men 350 (82.0%) got the PrePex device and 79 (18.0%) the dorsal slit procedure. 250 of 329 men (76.0%) who were invited to choose between the 2 procedures chose Prepex. There were 9 AEs (2.6%) with the PrePex, of which 5 (1.4%) were severe complications, 4 due to patient self-removal of the device leading to edema and urinary obstruction requiring emergency surgical circumcision, and one due to wound dehiscence following device removal. 71.8% of men reported an unpleasant odor prior to PrePex removal. Cumulative rates of completed wound healing with the PrePex were 56.7% at week 4, 84.8% week 5, 97.6% week 6 and 98.6% week 7, compared to 98.7% at week 4 with dorsal slit (phealing was slower than with dorsal slit surgery. Severe complications, primarily following PrePex self-removal, required rapid access to emergency surgical facilities. The need to return for removal and delayed healing may increase Program cost and client burden.

  2. Assessing Odor Level when Using PrePex for HIV Prevention: A Prospective, Randomized, Open Label, Blinded Assessor Trial to Improve Uptake of Male Circumcision.

    Directory of Open Access Journals (Sweden)

    Vincent Mutabazi

    Full Text Available The PrePex is a WHO--prequalified medical device for adult male circumcision for HIV prevention. The Government of Rwanda was the first country to implement the PrePex device and acts as the leading center of excellence providing training and formal guidelines. As part of the Government's efforts to improve PrePex implementation, it made efforts to improve the psychological acceptability of device by men, thus increasing uptake with VMMC in sub-Saharan Africa. Some men who underwent the PrePex procedure complained of foreskin odor while wearing the PrePex 3-7 days after it was placed. This complaint was identified as potential risk for uptake of the device. Researchers from Rwanda assumed there is a possible relation between the level of foreskin odor and patient foreskin hygiene technique. The Government of Rwanda decided to investigate those assumptions in a scientific way and conduct a trial to test different hygiene-cleaning methods in order to increase the acceptability of PrePex and mitigate the odor concern. The main objective of the trial was to compare odor levels between three arms, having identical personal hygiene but different foreskin hygiene techniques using either clear water with soap during a daily shower, soapy water using a syringe, or chlorhexidine using a syringe. One hundred and one subjects were enrolled to the trial and randomly allocated into three trial arms. Using chlorhexidine solution daily almost completely eliminated odor, and was statistically significant more effective that the other two arms. The trial results suggest that odor from the foreskin, while wearing the PrePex device, could be related to the growth of anaerobic bacteria, which can be prevented by a chlorhexidine cleaning method. This finding can be used to increase acceptability by men when considering PrePex as one of the leading methods for HIV prevention in VMMC programs.

  3. The PEX7-mediated peroxisomal import system is required for fungal development and pathogenicity in Magnaporthe oryzae.

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    Jaeduk Goh

    Full Text Available In eukaryotes, microbodies called peroxisomes play important roles in cellular activities during the life cycle. Previous studies indicate that peroxisomal functions are important for plant infection in many phytopathogenic fungi, but detailed relationships between fungal pathogenicity and peroxisomal function still remain unclear. Here we report the importance of peroxisomal protein import through PTS2 (Peroxisomal Targeting Signal 2 in fungal development and pathogenicity of Magnaporthe oryzae. Using an Agrobacterium tumefaciens-mediated transformation library, a pathogenicity-defective mutant was isolated from M. oryzae and identified as a T-DNA insert in the PTS2 receptor gene, MoPEX7. Gene disruption of MoPEX7 abolished peroxisomal localization of a thiolase (MoTHL1 containing PTS2, supporting its role in the peroxisomal protein import machinery. ΔMopex7 showed significantly reduced mycelial growth on media containing short-chain fatty acids as a sole carbon source. ΔMopex7 produced fewer conidiophores and conidia, but conidial germination was normal. Conidia of ΔMopex7 were able to develop appressoria, but failed to cause disease in plant cells, except after wound inoculation. Appressoria formed by ΔMopex7 showed a defect in turgor generation due to a delay in lipid degradation and increased cell wall porosity during maturation. Taken together, our results suggest that the MoPEX7-mediated peroxisomal matrix protein import system is required for fungal development and pathogenicity M. oryzae.

  4. [Charles Bonnet syndrome precipitated by brimonidine].

    Science.gov (United States)

    García-Catalán, M R; Arriola-Villalobos, P; Santos-Bueso, E; Gil-de-Bernabé, J; Díaz-Valle, D; Benítez-del-Castillo, J M; García-Sánchez, J

    2013-09-01

    An 81-year-old woman with age-related macular degeneration and pseudoexfoliative glaucoma developed visual hallucinations (faces, flowers and frames) shortly after beginning brimonidine drops. Neurologic and psychiatric examination was normal. Visual hallucinations disappeared within 10 days after discontinuing the drug. The Charles Bonnet syndrome (CBS) is characterised by complex visual hallucinations in elderly patients in the setting of significant visual impairment without any psychiatric symptoms. Awareness of CBS among ophthalmologist is essential. Clinicians should treat visual impairment and be aware of possible visual hallucinations in patients treated with brimonidine. Copyright © 2010 Sociedad Española de Oftalmología. Published by Elsevier Espana. All rights reserved.

  5. A systems-based assessment of the PrePex device adverse events active surveillance system in Zimbabwe.

    Directory of Open Access Journals (Sweden)

    Paul C Adamson

    Full Text Available Voluntary Medical Male Circumcision (VMMC is an effective method for HIV prevention and the World Health Organization (WHO has recommended its expansion in 14 African countries with a high prevalence of HIV and low prevalence of male circumcision. The WHO has recently pre-qualified the PrePex device, a non-surgical male circumcision device, which reduces procedure time, can increase acceptability of VMMC, and can expand the set of potential provider cadres. The PrePex device was introduced in Zimbabwe as a way to scale-up VMMC services in the country. With the rapid scale-up of the PrePex device, as well as other similar devices, a strong surveillance system to detect adverse events (AE is needed to monitor the safety profile of these devices. We performed a systems-based evaluation of the PrePex device AE active surveillance system in Zimbabwe.The evaluation was based on the Centers for Disease Control and Prevention's Updated Guidelines for Evaluating Public Health Surveillance Systems. We adapted these guidelines to fit our local context. The evaluation incorporated the review of the standard operating procedures and surveillance system documents. Additionally, structured, in-person interviews were performed with key stakeholders who were users of the surveillance system at various levels. These key stakeholders were from the Ministry of Health, implementing partners, and health facilities in Harare.Clients were requested to return to the facility for follow-up on days 7, 14 and 49 after placement of the device. In the event of a severe AE, a standard report was generated by the health facility and relayed to the Ministry of Health Child and Care and donor agencies through predefined channels within 24 hours of diagnosis. Clinic staff reported difficulties with the amount of documentation required to follow up with clients and to report AEs. The surveillance system's acceptability among users interviewed was high, and users were motivated to

  6. Electronic working length determination in primary teeth by ProPex and Digital Signal Processing.

    Science.gov (United States)

    Nelson-Filho, Paulo; Lucisano, Marcela Pacífico; Leonardo, Mário Roberto; da Silva, Raquel Assed Bezerra; da Silva, Léa Assed Bezerra

    2010-12-01

    The purpose of this study was to evaluate the accuracy of electronic apex locators Digital Signal Processing (DSP) and ProPex, for root canal length determination in primary teeth. Fifteen primary molars (a total of 34 root canals) were divided into two groups: Group I - without physiological resorption (n = 16); and Group II - with physiological resorption (n = 18). The length of each canal was measured by introducing a file until its tip was visible and then it was retracted 1 mm. For electronic measurement, the devices were set to 1 mm short of the apical resorption. The data were analysed statistically using the intraclass correlation coefficient (ICC). Results showed that the ICC was high for both electronic apex locators in all situations - with (ICC: DSP = 0.82 and Propex = 0.89) or without resorption (ICC: DSP = 0.92 and Propex = 0.90). Both apex locators were extremely accurate in determining the working length in primary teeth, both with or without physiological resorption. © 2010 The Authors. Australian Endodontic Journal © 2010 Australian Society of Endodontology.

  7. Extensive hepatic infarction in severe preeclampsia as part of the HELLP syndrome (hemolysis, elevated liver enzymes, and low platelets: Evolution of CT findings and successful treatment with plasma exchange therapy

    Directory of Open Access Journals (Sweden)

    Min-Min Chou

    2012-09-01

    Conclusion: We recommend that severely ill patients with HELLP syndrome having epigastric pain should undergo CT imaging of the liver. A trial of postpartum PEX therapy should be considered for treatment of the HELLP syndrome complicated with hepatic infarction, which is recalcitrant to conventional medical management, and fails to abate within 72–96 hours of delivery.

  8. [Expression of cry1Ac gene directed by PexsYpromoter of the exsY gene encoding component protein of exosporium basal layer in Bacillus thuringiensis].

    Science.gov (United States)

    Zheng, Qingyun; Wang, Guannan; Zhang, Zhe; Qu, Ning; Zhang, Qi; Peng, Qi; Zhang, Jie; Gao, Jiguo; Song, Fuping

    2014-10-04

    To discover new elements for cry gene expression, PexsY, which is the promoter of the exosporium basal layer structural gene exsY, was used to express cry1Ac gene in Bacillus thuringiensis. We used be ta- galactosidase assays by promoter-lacZ fusion to analyze the transcriptional activity of exsY promoter and truncated exsY promoter. The cry1Ac gene was directed by the non-cry gene promoter PexsY and was then expressed in Bacillus thuringiensis HD73. Transmission electron microscope (TEM) was used to observe the formation of crystal inclusion. The CrylAc yieldswere evaluated by protein quantification and SDS-PAGE analysis. Bioassays against Ostriniafurnacalis were used for the functional verification. Beta-galactosidase assays showed that the exsY promoter had a strong transcriptional activity in the acrystalliferous mutant strain HD73- on the late sporulation phase. Cry1Ac expression products directed by the PexsY could form diamond crystals. SDS-PAGE analysis showed that the cry1Ac gene directed by the cry8E promoter has the highest protein yield among the four promoters while the cry1Ac gene under the direction of PexsYorcry3A promoters showed similar protein yields. The bioassay results showed that the Cry1Ac protein directed by the PexsY promoter was toxic against Ostrinia furnacalis. The cry1Ac gene under the direction ofthe non-cry gene promoter PexsY was able to express the Cry proteins at the late sporulation phase and could form crystal inclusion in a B. thuringiensis strain. Our finding provides applicationpotential for the genetically modification of engineered Bt strains.

  9. Structure-Function Correlation Using Confocal Laser Ophthalmoscope in Primary Open-Angle Glaucoma and Pseudoexfoliative Glaucoma.

    Science.gov (United States)

    Pappas, Theofanis; Founti, Panayiota; Yin, Xiang Jun; Koskosas, Archimidis; Anastasopoulos, Eleftherios; Salonikiou, Angeliki; Kilintzis, Vasilios; Antoniadis, Antonios; Ziakas, Nikolaos; Topouzis, Fotis

    2016-04-01

    To compare Heidelberg Retina Tomograph (HRT) optic disc parameters and structure-function correlation between primary open-angle glaucoma (POAG) and pseudoexfoliative glaucoma (PEXG). Prospective, observation case series. A total of 54 POAG and 33 PEXG cases, consecutively recruited from a University Glaucoma Service, underwent a comprehensive ophthalmic examination, including HRT optic disc imaging. Glaucoma definition required the presence of both structural and functional damage. One eye per subject was included in the analysis. T test, Mann-Whitney U test, and analysis of covariance were used to compare HRT parameters between POAG and PEXG, adjusting for age, mean deviation (MD) in the visual field, intraocular pressure, and disc area. The correlation between HRT and MD was assessed in each group. Cup area (P=0.048), height variation contour (P=0.016), and cup/disc area ratio (P=0.023) were higher in POAG, whereas the mean retinal nerve fiber layer thickness (P=0.048), retinal nerve fiber layer cross-section area (P=0.044), and rim area (P=0.048) were lower in POAG, compared with PEXG. The correlation of HRT parameters with MD was significant only in the POAG group. At a similar level of functional damage, POAG subjects presented with more pronounced structural damage than PEXG subjects. The correlation between HRT and visual field parameters was more evident in POAG, compared with PEXG.

  10. Capsule contraction syndrome

    Directory of Open Access Journals (Sweden)

    Mesut COŞKUN

    2009-06-01

    Full Text Available Capsule contraction syndrome occurs after fibrous metaplasia of lens proteins that leads to capsular bag contraction. Excessive front capsular wrinkling is seen in capsule contraction syndrome and there is an imbalance between powers supplying capsular integrity. This situation leads to zonular weakness. Capsule contraction syndrome is associated with pseudoexfoliation, older age, uveitis, pars planitis and myotonic muscular dystrophy. In order to decrease the risk of capsule contraction syndrome, front capsulerhexis area should be open as 5.5-6 mm diameter and a curysoft intraocular lens should be used. In order to prevent lens epithelial proliferation and metaplasia, lens epithelial cells at inferior surface of front capsule should be aspirated carefully. If postoperative capsular contraction detected, front capsulotomy should be performed by Nd-YAG laser at postoperative 2 to 3 weeks. In patients that Nd-YAG laser is unsuccessful, capsular tension should be decreased by surgical microincisions. In present study, we evaluated etiology, prevention and management of capsule contraction syndrome in the light of actual literature knowledge.

  11. Peroxisomes Extend Peroxules in a Fast Response to Stress via a Reactive Oxygen Species-Mediated Induction of the Peroxin PEX11a.

    Science.gov (United States)

    Rodríguez-Serrano, María; Romero-Puertas, María C; Sanz-Fernández, María; Hu, Jianping; Sandalio, Luisa M

    2016-07-01

    Peroxisomes are highly dynamic and metabolically active organelles that play an important role in cellular functions, including reactive oxygen species (ROS) metabolism. Peroxisomal dynamics, such as the proliferation, movement, and production of dynamic extensions called peroxules, have been associated with ROS in plant cells. However, the function and regulation of peroxules are largely unknown. Using confocal microscopy, we have shown that treatment of Arabidopsis leaves with the heavy metal cadmium produces time course-dependent changes in peroxisomal dynamics, starting with peroxule formation, followed by peroxisome proliferation, and finally returning to the normal morphology and number. These changes during Cd treatment were regulated by NADPH oxidase (C and F)-related ROS production. Peroxule formation is a general response to stimuli such as arsenic and is regulated by peroxin 11a (PEX11a), as Arabidopsis pex11a RNAi lines are unable to produce peroxules under stress conditions. The pex11a line showed higher levels of lipid peroxidation content and lower expression of genes involved in antioxidative defenses and signaling, suggesting that these extensions are involved in regulating ROS accumulation and ROS-dependent gene expression in response to stress. Our results demonstrate that PEX11a and peroxule formation play a key role in regulating stress perception and fast cell responses to environmental cues. © 2016 American Society of Plant Biologists. All Rights Reserved.

  12. Pex14p is Not Required for N-Starvation Induced Microautophagy and in Catalytic Amounts for Macropexophagy in Hansenula polymorpha

    NARCIS (Netherlands)

    Vries, Bart de; Todde, Virginia; Stevens, Patricia; Salomons, Florian; Klei, Ida J. van der; Veenhuis, Marten

    2006-01-01

    We showed before that the two oppositely directed processes of peroxisome biogenesis and selective peroxisome degradation (macropexophagy) converge at the peroxisomal membrane protein Pex14p. Here we show that this protein is not required for peroxisome degradation during nitrogen starvation-induced

  13. Long-term study of migration of volatile organic compounds from cross-linked polyethylene (PEX) pipes and effects on drinking water quality.

    Science.gov (United States)

    Lund, Vidar; Anderson-Glenna, Mary; Skjevrak, Ingun; Steffensen, Inger-Lise

    2011-09-01

    The objectives of this study were to investigate migration of volatile organic compounds (VOCs) from cross-linked polyethylene (PEX) pipes used for drinking water produced by different production methods, and to evaluate their potential risk for human health and/or influence on aesthetic drinking water quality. The migration tests were carried out in accordance with EN-1420-1, and VOCs were analysed by gas chromatography-mass spectrometry. The levels of VOC migrating from new PEX pipes were generally low, and decreasing with time of pipe use. No association was found between production method of PEX pipes and concentration of migration products. 2,4-di-tert-butyl phenol and methyl tert-butyl ether (MTBE) were two of the major individual components detected. In three new PEX pipes, MTBE was detected in concentrations above the recommended US EPA taste and odour value for drinking water, but decreased below this value after 5 months in service. However, the threshold odour number (TON) values for two pipes were similar to new pipes even after 1 year in use. For seven chemicals for which conclusions on potential health risk could be drawn, this was considered of no or very low concern. However, odour from some of these pipes could negatively affect drinking water for up to 1 year.

  14. Pichia pastoris Pex 14p, a phosphorylated peroxisomal membrane protein, is part of a PTS-receptor docking complex and interacts with many peroxins

    NARCIS (Netherlands)

    Johnson, Monique A.; Snyder, William B.; Cereghino, Joan Lin; Veenhuis, Marten; Subramani, Suresh; Cregg, James M.

    2001-01-01

    The peroxisomal protein import machinery plays a central role in the assembly of this organelle in all eukaryotes. Genes encoding components of this machinery, termed peroxins or Pex proteins, have been isolated and characterized in several yeast species and in mammals, including humans. Here we

  15. PrePex Male Circumcision: Follow-Up and Outcomes during the First Two Years of Implementation at the Rwanda Military Hospital.

    Science.gov (United States)

    Ndagijimana, Albert; Mugenzi, Pacifique; Thomson, Dana R; Hedt-Gauthier, Bethany; Condo, Jeanine U; Ngoga, Eugene

    2015-01-01

    PrePex Male Circumcision (MC) has been demonstrated as an effective and scalable strategy to prevent HIV infection in low- and middle-income countries. This study describes the follow-up and outcomes of clients who underwent PrePex MC between January 2011 and December 2012 with weekly follow-up at the Rwanda Military Hospital, the first national hospital in Rwanda to adopt PrePex. Data on 570 clients age 21 to 54 were extracted from patient records. We compared socio-demographic and clinical characteristics, the operator's qualification, HIV status, pain before and after device removal, urological status, device size and follow-up time between clients who were formally discharged and those who defaulted. We reported bivariate associations between each covariate and discharge status, number of people with adverse events by discharge status, and time to formal discharge or defaulting using life table methods. Data were entered into Epidata and analyzed with Stata v 13. Among study participants, 96.5% were circumcised by non-physician operators, 85.4%were under 30 years, 98.9% were HIV-negative and 97.9% were without any urological problems that could delay the healing time. Most (70.7%) defaulted before formal discharge. Pain before (phealed. We recommend less frequent follow-up protocols to encourage clinical visits until formal discharge. Based on these results and recommendations, we believe PrePex MC is a practical circumcision strategy in Rwanda and in sub-Saharan Africa.

  16. Correlation of endothelin-1 concentration in aqueous humor with intraocular pressure in primary open angle and pseudoexfoliation glaucoma.

    Science.gov (United States)

    Choritz, Lars; Machert, Maren; Thieme, Hagen

    2012-10-23

    Endothelin-1 (ET-1) has been found in elevated concentrations in the aqueous humor of glaucoma patients. Indirect evidence from animal studies suggests that ET-1 might directly influence intraocular pressure (IOP). The aim of this study was to determine whether ET-1 concentrations in aqueous humor of cataract and glaucoma patients correlate with IOP. Aqueous humor and blood samples from patients with either cataract (control, n = 38), primary open angle glaucoma (POAG, n = 35), or pseudoexfoliation glaucoma (PEXG, n = 21), without other ocular or systemic disease, were collected during routine cataract surgery or trabeculectomy. ET-1 concentration was determined by an ET-1 ELISA kit. IOP was measured preoperatively by standard Goldmann applanation tonometry. All statistical analysis was performed using commercial predictive analytics software. Both IOP and ET-1 concentration in aqueous humor were significantly increased in POAG (23.4 ± 6.8 mm Hg, 5.9 ± 2.9 pg/mL) and PEXG (24.3 ± 8.8 mm Hg, 7.7 ± 2.1 pg/mL) compared with control (15.0 ± 2.9 mm Hg, 4.3 ± 2.4 pg/mL). No difference was detected for plasma ET-1 concentrations. IOP and ET-1 in the aqueous humor were significantly correlated (R = 0.394, R² = 0.155, P < 0.001), although no correlation was found between IOP and ET-1 in blood plasma or between ET-1 in aqueous humor and ET-1 in plasma. In this study, a small but highly significant correlation between IOP and the ET-1 concentration in the aqueous humor was found. Although no causative relationship can be deduced from this, ocular ET-1 effects on IOP control may merit further investigation.

  17. In vivo accuracy of three electronic root canal length measurement devices: Dentaport ZX, Raypex 5 and ProPex II.

    Science.gov (United States)

    Somma, F; Castagnola, R; Lajolo, C; Paternò Holtzman, L; Marigo, L

    2012-06-01

    To compare in vivo three different electronic root canal length measurement devices: Dentaport ZX, Raypex 5 and ProPex II. Thirty single-rooted permanent teeth scheduled for extraction because of periodontal disease were selected from 10 adult patients (ranging from 45 to 67 years) and divided into three groups of 10 teeth. Before the extraction, an access cavity was prepared and the crown was adjusted to establish a stable reference point for all measurements. The working length in Group 1 was determined using the Dentaport ZX apex locator. A K-file with the largest diameter that could reach the last green bar on the screen was stabilized in the canal using a dual-curable flow resin composite. The same procedure was used for the Raypex 5 (the file reached the last yellow bar) and Propex II (0.0 orange bar) apex locators. The teeth were then extracted and cleared. The distance between the tip of the file and the major foramen was then calculated for each tooth using digital photography according to Axiovision AC software (Carl Zeiss). Positive values were assigned when the file tip passed beyond the major foramen, negative values when the tip was short of the foramen and zero value when the file tip and the foramen coincided. Statistical analysis was performed using the chi-squared test or Fisher's exact test (P ≤ 0.05).   Dentaport ZX, Raypex 5 and ProPex ΙΙ produced, respectively, 6, 2 and 4 out of 10 correct measurements, 0, 6 and 5 long measurements and 4, 2, and 1 short measurements. The differences between the three electronic root canal length measurement devices were not significant (P = 0.507). Under the in vivo conditions of this study, the three electronic root canal length measurement devices were not significantly different in terms of locating the major foramen. © 2012 International Endodontic Journal.

  18. Selective laser trabeculoplasty in patients with pseudoexfoliative glaucoma vs primary open angle glaucoma: a one-year comparative study

    Directory of Open Access Journals (Sweden)

    Arezoo Miraftabi

    2016-03-01

    Full Text Available AIM: To compare the efficacy of single-session 360-degree selective laser trabeculoplasty (SLT for reduction of intraocular pressure (IOP in patients with pseudoexfoliative glaucoma (PXFG and primary open angle glaucoma (POAG. METHODS: This is a single-center, prospective, nonrandomized comparative study. Patients older than 18 years of age with uncontrolled PXFG or POAG eyes requiring additional therapy while on maximally tolerated IOP-lowering medications were included. The primary outcome measure changed in IOP from baseline. Success was defined as IOP reduction ≥20% from baseline without any additional IOP-lowering medication. All patients were examined at 1d, 1wk, 1, 3, 6, 9, 12mo after SLT. RESULTS: Nineteen patients (20 eyes with PXFG and 27 patients (28 eyes with POAG were included in the study. In the visual fields mean deviation was -2.88 (±1.67 in the POAG and -3.1 (±1.69 in the PXFG groups (P=0.3. The mean (±SD IOP was 22.9 (±3.7 mm Hg in the POAG group and 25.7 (±4.4 mm Hg in the PXFG group at baseline and decreased to 18.4 (±3.2 and 18.0 (±3.9 mm Hg in the POAG group (P<0.001 and P=0.02, and to 17.9 (±4.0 and 21.0 (±6.6 mm Hg in the PXFG group (P<0.001 and P=0.47 at 6 and 12mo, respectively. The number of medications was 2.6 (±0.8 in the POAG group and 2.5 (±0.8 in the PXFG group at baseline, and did not change at all follow-up visits in both groups (P=0.16 in POAG and 0.57 in PXFG. Based on Kaplan-Meier survival analysis, the success rate was 75% in the POAG group compared to 94.1% in the PXFG group (P=0.08; log rank test at 6mo, and 29.1% and 25.0% at 12mo, respectively (P=0.9; log rank. CONCLUSION: The 360-degree SLT is an effective and well-tolerated therapeutic modality in patients with POAG and PXFG by reducing IOP without any change in number of medications. The response was more pronounced early in the postoperative period in patients with PXFG whereas there was no statistically significant difference at 12

  19. Correlation of Aqueous Humor Lysyl Oxidase Activity with TGF-ß Levels and LOXL1 Genotype in Pseudoexfoliation.

    Science.gov (United States)

    Gayathri, Ramakrishnan; Coral, Karunakaran; Sharmila, Ferdinamarie; Sripriya, Sarangapani; Sripriya, Krishnamoorthy; Manish, Panday; Shantha, B; Ronnie, George; Vijaya, Lingam; Narayanasamy, Angayarkanni

    2016-10-01

    Pseudoexfoliation (PXF) is a microfibrillopathy involving disordered elastogenesis. Abnormal extracellular matrix (ECM) production underlies the pathophysiology of PXF. The enzyme Lysyl oxidase (LOX) and its isoforms are known to cross-link the elastin and collagen. Though the etiopathogensis of PXF is not well understood, studies report on the genetic risk involving LOXL1 gene. This study aims to screen LOXL1 coding variants rs1048661 and rs3825942 in the South Indian population and the implication of the single nucleotide polymorphism (SNP) with LOX activity. The levels of transforming growth factor β (TGF-β) in aqueous humor and its correlation with the LOX activity were also examined. Blood, plasma, and aqueous aspirates were prospectively collected from PXF cases with and without glaucoma and cataract cases as controls. DNA was extracted from 48 PXF cases without glaucoma, 12 PXF cases with glaucoma, and 40 age-matched cataract-alone controls without PXF/glaucoma for analyzing LOX SNPs. LOX activity was measured in aqueous humor and plasma of 30 PXF cases without glaucoma, 24 age-matched cataract-alone controls without PXF/glaucoma, and 14 PXF cases with glaucoma. Protein levels of LOX, LOXL1, LOXL2, and total TGF-β were estimated in plasma and aqueous humor by ELISA. The specific activity of LOX in aqueous humor was found to be significantly lowered in PXF cases compared with cataract-alone controls (p = 0.014). This decrease in LOX activity in PXF cases was associated with high-risk GG haplotype. However, this was not statistically significant and a larger sample size is warranted. TGF-β1 and TGF-β2 negatively correlated with LOX activity in aqueous humor (p = 0.028; p = 0.046, respectively). The LOXL1 SNPs, rs1048661 and rs3825942, are associated with PXF in the South Indian population correlating with lowered LOX activity in the aqueous humor. The increased level of total TGF-β in the aqueous humor of PXF cases is possibly associated with LOX

  20. The peroxisomal import receptor PEX5 functions as a stress sensor, retaining catalase in the cytosol in times of oxidative stress.

    Science.gov (United States)

    Walton, Paul A; Brees, Chantal; Lismont, Celien; Apanasets, Oksana; Fransen, Marc

    2017-10-01

    Accumulating evidence indicates that peroxisome functioning, catalase localization, and cellular oxidative balance are intimately interconnected. Nevertheless, it remains largely unclear why modest increases in the cellular redox state especially interfere with the subcellular localization of catalase, the most abundant peroxisomal antioxidant enzyme. This study aimed at gaining more insight into this phenomenon. Therefore, we first established a simple and powerful approach to study peroxisomal protein import and protein-protein interactions in living cells in response to changes in redox state. By employing this approach, we confirm and extend previous observations that Cys-11 of human PEX5, the shuttling import receptor for peroxisomal matrix proteins containing a C-terminal peroxisomal targeting signal (PTS1), functions as a redox switch that modulates the protein's activity in response to intracellular oxidative stress. In addition, we show that oxidative stress affects the import of catalase, a non-canonical PTS1-containing protein, more than the import of a reporter protein containing a canonical PTS1. Furthermore, we demonstrate that changes in the local redox state do not affect PEX5-substrate binding and that human PEX5 does not oligomerize in cellulo, not even when the cells are exposed to oxidative stress. Finally, we present evidence that catalase retained in the cytosol can protect against H2O2-mediated redox changes in a manner that peroxisomally targeted catalase does not. Together, these findings lend credit to the idea that inefficient catalase import, when coupled with the role of PEX5 as a redox-regulated import receptor, constitutes a cellular defense mechanism to combat oxidative insults of extra-peroxisomal origin. Copyright © 2017 Elsevier B.V. All rights reserved.

  1. The PrePex device is unlikely to achieve cost-savings compared to the forceps-guided method in male circumcision programs in sub-Saharan Africa.

    Directory of Open Access Journals (Sweden)

    Walter Obiero

    Full Text Available Male circumcision (MC reduces the risk of heterosexual HIV acquisition in men by approximately 60%. MC programs for HIV prevention are currently being scaled-up in fourteen countries in sub-Saharan Africa. The current standard surgical technique for MC in many sub-Saharan African countries is the forceps-guided male circumcision (FGMC method. The PrePex male circumcision (PMC method could replace FGMC and potentially reduce MC programming costs. We compared the potential costs of introducing the PrePex device into MC programming to the cost of the forceps-guided method.Data were obtained from the Nyanza Reproductive Health Society (NRHS, an MC service delivery organization in Kenya, and from the Kenya Ministry of Health. Analyses are based on 48,265 MC procedures performed in four Districts in western Kenya from 2009 through 2011. Data were entered into the WHO/UNAIDS Decision Makers Program Planning Tool. The tool assesses direct and indirect costs of MC programming. Various sensitivity analyses were performed. Costs were discounted at an annual rate of 6% and are presented in United States Dollars.Not including the costs of the PrePex device or referral costs for men with phimosis/tight foreskin, the costs of one MC surgery were $44.54-$49.02 and $54.52-$55.29 for PMC and FGMC, respectively.The PrePex device is unlikely to result in significant cost-savings in comparison to the forceps-guided method. MC programmers should target other aspects of the male circumcision minimum package for improved cost efficiency.

  2. Combined clear cornea phacoemulsification in the treatment of pseudoexfoliative glaucoma associated with cataract: significance of trabecular aspiration and ab interno trabeculectomy.

    Science.gov (United States)

    Klamann, Matthias K J; Gonnermann, Johannes; Maier, Anna-Karina B; Ruokonen, Peter C; Torun, Necip; Joussen, Antonia M; Bertelmann, Eckart

    2013-09-01

    In the present study, the effectiveness of combined cataract surgery and ab interno trabeculectomy (Trabectome) in exfoliation glaucoma (PEX) was compared with combined cataract surgery and trabecular aspiration. In this retrospective comparative cohort outcome study, 27 consecutive patients (mean age 73.41 years ± 10.78) in group 1 suffering from visually significant cataract and PEX glaucoma (mean preoperative IOP 23.41 mmHg ± 5.86) were treated with phacoemulsification combined with Trabectome; and 28 consecutive patients (73.83 years ± 8.94) were treated with phacoemulsification combined with trabecular aspiration (mean preoperative IOP 22.22 mmHg ± 6.33). The intraocular pressure (IOP) and the number of antiglaucoma eyedrops before and after surgery were evaluated. Examinations were performed prior to surgery, 1 day, 6 weeks, 3 months, 6 months, and 1 year after surgery. In both groups there was a statistically significant decrease in postoperative IOP during the whole follow-up period. Comparing the two groups, there was a statistically significant lower IOP in the Trabectome group 1 day (p = 0.019), 6 months (p = 0.025), and 1 year (p = 0.019) after surgery. Between the two groups, there was no statistically significant difference in the number of antiglaucoma eyedrops at any time. Both procedures have the ability to significantly lower the postoperative IOP during the first year. However, clear cornea phacoemulsification combined with Trabectome seems to be more effective in IOP reduction in cases of PEX glaucoma associated with cataract.

  3. PrePex Male Circumcision: Follow-Up and Outcomes during the First Two Years of Implementation at the Rwanda Military Hospital.

    Directory of Open Access Journals (Sweden)

    Albert Ndagijimana

    Full Text Available PrePex Male Circumcision (MC has been demonstrated as an effective and scalable strategy to prevent HIV infection in low- and middle-income countries. This study describes the follow-up and outcomes of clients who underwent PrePex MC between January 2011 and December 2012 with weekly follow-up at the Rwanda Military Hospital, the first national hospital in Rwanda to adopt PrePex.Data on 570 clients age 21 to 54 were extracted from patient records. We compared socio-demographic and clinical characteristics, the operator's qualification, HIV status, pain before and after device removal, urological status, device size and follow-up time between clients who were formally discharged and those who defaulted. We reported bivariate associations between each covariate and discharge status, number of people with adverse events by discharge status, and time to formal discharge or defaulting using life table methods. Data were entered into Epidata and analyzed with Stata v 13.Among study participants, 96.5% were circumcised by non-physician operators, 85.4%were under 30 years, 98.9% were HIV-negative and 97.9% were without any urological problems that could delay the healing time. Most (70.7% defaulted before formal discharge. Pain before (p<0.001 and after PrePex device removal (p = 0.001 were associated with discharge status, although very few cases were reported, and pain was more commonly missing among defaulters. Twenty-seven adverse events were reported (7 formally discharged, 20 defaulters. Median follow-up time was seven weeks among formally discharged and six weeks among defaulters (p<0.001.Given that all socio-demographic and most clinical characteristics were not associated with defaulting, we hypothesize that clients stopped returning once they determined they were healed. We recommend less frequent follow-up protocols to encourage clinical visits until formal discharge. Based on these results and recommendations, we believe PrePex MC is a

  4. Colletotrichum orbiculare FAM1 Encodes a Novel Woronin Body-Associated Pex22 Peroxin Required for Appressorium-Mediated Plant Infection.

    Science.gov (United States)

    Kubo, Yasuyuki; Fujihara, Naoki; Harata, Ken; Neumann, Ulla; Robin, Guillaume P; O'Connell, Richard

    2015-09-15

    The cucumber anthracnose fungus Colletotrichum orbiculare forms specialized cells called appressoria for host penetration. We identified a gene, FAM1, encoding a novel peroxin protein that is essential for peroxisome biogenesis and that associates with Woronin bodies (WBs), dense-core vesicles found only in filamentous ascomycete fungi which function to maintain cellular integrity. The fam1 disrupted mutants were unable to grow on medium containing oleic acids as the sole carbon source and were nonpathogenic, being defective in both appressorium melanization and host penetration. Fluorescent proteins carrying peroxisomal targeting signals (PTSs) were not imported into the peroxisomes of fam1 mutants, suggesting that FAM1 is a novel peroxisomal biogenesis gene (peroxin). FAM1 did not show significant homology to any Saccharomyces cerevisiae peroxins but resembled conserved filamentous ascomycete-specific Pex22-like proteins which contain a predicted Pex4-binding site and are potentially involved in recycling PTS receptors from peroxisomes to the cytosol. C. orbiculare FAM1 complemented the peroxisomal matrix protein import defect of the S. cerevisiae pex22 mutant. Confocal microscopy of Fam1-GFP (green fluorescent protein) fusion proteins and immunoelectron microscopy with anti-Fam1 antibodies showed that Fam1 localized to nascent WBs budding from peroxisomes and mature WBs. Association of Fam1 with WBs was confirmed by colocalization with WB matrix protein CoHex1 (C. orbiculare Hex1) and WB membrane protein CoWsc (C. orbiculare Wsc) and by subcellular fractionation and Western blotting with antibodies to Fam1 and CoHex1. In WB-deficient cohex1 mutants, Fam1 was redirected to the peroxisome membrane. Our results show that Fam1 is a WB-associated peroxin required for pathogenesis and raise the possibility that localized receptor recycling occurs in WBs. Colletotrichum orbiculare is a fungus causing damaging disease on Cucurbitaceae plants. In this paper, we

  5. Safety and efficacy of the PrePex device in HIV-positive men: A single-arm study in Zimbabwe.

    Directory of Open Access Journals (Sweden)

    Mufuta Tshimanga

    Full Text Available We aimed to determine if the adverse event (AE rate was non-inferior to an AE rate of 2%, a rate considered the global standard of MC safety. Study procedures, AE definitions, and study staff were unchanged from previous PrePex Zimbabwe trials. After PrePex placement and removal, weekly visits assessed wound healing. Men returned on Day 90. Safety was defined as occurrence of moderate and serious clinical AEs. Efficacy was defined as ability to reach the endpoint of complete circumcision.Among 400 healthy, HIV-positive, consenting adults, median age was 40 years (IQR: 34, 46; 79.5% in WHO stage 2; median CD4 was 336.5c/μl (IQR: 232, 459; 337 (85% on anti-retroviral therapy. Among 385 (96% observed completely healed, median days to complete healing was 42 (IQR: 35-49. There was no association between time to healing and CD4 (p = 0.66. Four study-related severe AEs and no moderate AEs were reported: severe/moderate AE rate of 1.0% (95% CI: 0.27% to 2.5. This was non-inferior to 2% AEs (p = 0.0003. All AEs were device displacements resulting in surgical MC and, subsequently, complete healing.Male circumcision among healthy, HIV-positive men using PrePex is safe and effective. Reducing the barrier of HIV testing while improving counseling for safer sex practices among all MC clients could increase MC uptake and avert more HIV infections.

  6. Comparison of one-site versus two-site phacotrabeculectomy without the use of antimetabolites intraoperatively in patients with pseudoexfoliation glaucoma and primary open-angle glaucoma

    Directory of Open Access Journals (Sweden)

    Eleni Bagli

    2009-04-01

    Full Text Available Eleni Bagli, Christos Gartzios, Ioannis Asproudis, Georgios KitsosUniversity Eye Clinic of Ioannina, Ioannina, GreecePurpose: The comparison of one-site versus two-site phacotrabeculectomy in patients with pseudoexfoliation glaucoma (PEXG and primary open-angle glaucoma (POAG, with respect to intraocular pressure (IOP, antiglaucomatous medication (AM requirements and visual acuity (VA.Methods: Forty-seven patients (eyes with cataract and POAG and 46 sex- and age-matched patients with cataract and PEXG were randomized to one- or two-site phacotrabeculectomy and reviewed with a follow-up at three years.Results: Mean preoperative IOP was 22.04 ± 2.27 mmHg and 22.92 ± 2.35 mmHg in POAG and PEXG groups (p > 0.05 using a mean of 2.76 ± 0.74, 2.74 ± 0.69 AM, respectively (p > 0.05. After three years of follow-up, the mean IOP was 15.04 ± 1.57 mmHg in the one-site, 15.04 ± 1.99 mmHg in the two-site group with POAG, 15 ± 1.8 mmHg in the one-site, 15.32 ± 1.31 mmHg in the two-site group with PEXG, using a mean of 0.68 ± 0.69, 0.84 ± 0.75, 0.96 ± 0.67, and 0.8 ± 0.62 AM, respectively. Mean IOP and AM postoperatively were significantly less compared to preoperatively for each group (p < 0.05. No difference was observed in mean IOP and AM between the four groups at three years postoperatively (p > 0.05. VA improved similarly in four groups at the three-year follow-up (p < 0.05. Intraoperative, postoperative complications, and need for 5-fluorouracil injections were similar between the surgical groups.Conclusion: One-site and two-site phacotrabeculectomy without the use of antimetabolites intraoperatively were similarly safe and effective in IOP control over a three-year follow-up period in patients with POAG and PEXG.Keywords: phacotrabeculectomy, pseudoexfoliation, glaucoma

  7. Land-atmosphere interaction and disaster-causing process of drought in northern China: observation and experiment (DroughtPEX_China)

    Science.gov (United States)

    Li, Yaohui

    2017-04-01

    Drought is one of the most common and frequent nature disasters in the world, particularly in China under the continental monsoonal climate with great variation. About thirty percent of economic loss caused by natural disasters is contributed by droughts in China, which is by far the most damaging weather disasters because of its long duration and extensive hazard areas. Droughts not only have a serious impact on the agriculture, water resources, ecology, natural environment, but also seriously affect the socio-economic such as human health, energy and transportation. Worsely, under the background of climate change, droughts in show increases in frequency, duration and scope in many places around the world, particularly northern China. Nowadays, droughts have aroused extensive concern of the scientists, governments and international community, and became one of the important scientific issues in geoscience research. However, most of researches on droughts in China so far were focused on the causes or regulars of one type of droughts (the atmosphere, agriculture or hydrological) from the perspective of the atmospheric circulation anomalies. Few of them considered a whole cycle of the drought-forming process from atmosphere-land interaction to agricultural/ecological one in terms of the land-atmosphere interaction; meanwhile, the feedback mechanism with the drought and land-atmosphere interaction is still unclear as well. All of them is because of lack of the relevant comprehensive observation experiment. "Land-atmosphere interaction and disaster-causing process of drought in northern China: observation and experiment" (DroughtPEX_China)is just launched in this requirement and background. DroughtPEX_China is supported by Special Scientific Research Fund of Public Welfare Industry (Meteorological) of China (Grant No.GYHY201506001)—"Drought Meteorology Scientific Research Project—the disaster-causing process and mechanism of drought in northern China". This project

  8. Pseudoexfoliation and Alzheimer's associated CLU risk variant, rs2279590, lies within an enhancer element and regulates CLU, EPHX2 and PTK2B gene expression.

    Science.gov (United States)

    Padhy, Biswajit; Hayat, Bushra; Nanda, Gargi Gouranga; Mohanty, Pranjya Paramita; Alone, Debasmita Pankaj

    2017-11-15

    Genetic variants at PTK2B-CLU locus pose as high-risk factors for many age-related disorders. However, the role of these variants in disease progression is less characterized. In this study, we aimed to investigate the functional significance of a clusterin intronic SNP, rs2279590, that has been associated with pseudoexfoliation, Alzheimer's disease (AD) and diabetes. We have previously shown that the alleles at rs2279590 differentially regulate clusterin (CLU) gene expression in lens capsule tissues. This polymorphism resides in an active regulatory region marked by H3K27Ac and DNase I hypersensitive site and is an eQTL for CLU expression. Here, we report the presence of an enhancer element in surrounding region of rs2279590. Deletion of a 115 bp intronic region flanking the rs2279590 variant through CRISPR-Cas9 genome editing in HEK293 cells demonstrated a decreased clusterin gene expression. Electrophoretic mobility shift and chromatin immunoprecipitation assays show that rs2279590 with allele 'A' constitutes a transcription factor binding site for heat shock factor-1 (HSF1) but not with allele 'G'. By binding to allele 'A', HSF1 abrogates the enhancer effect of the locus as validated by reporter assays. Interestingly, rs2279590 locus has a widespread enhancer effect on two nearby genes, protein tyrosine kinase 2 beta (PTK2B) and epoxide hydrolase-2 (EPHX2); both of which have been previously associated with AD as risk factors. To summarize, our study unveils a mechanistic role of the common variant rs2279590 that can affect a variety of aging disorders by regulating the expression of a specific set of genes. © The Author 2017. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  9. Comparación entre estimulación cardiaca en tracto de salida y ápex del ventrículo derecho

    Directory of Open Access Journals (Sweden)

    Henry Anchante-Hernández

    2013-01-01

    Full Text Available El ápex de ventrículo derecho (AVD es el sitio convencional de estimulación cardiaca; sin embargo, no ha conseguido un patrón de activación y sincronía fisiológico. La evidencia de su efecto deletéreo ha hecho que se cuestione su práctica tradicional, por lo que nace el interés de búsqueda de sitios alternativos. El tracto de salida de ventrículo derecho (TSVD ha demostrado ser un lugar adecuado para estimulación, sin diferencias entre umbrales de estimulación entre ambos sitios. Objetivo: Comparar los resultados del implante a nivel del ápex con los del implante en tracto de salida de ventrículo derecho. Material y métodos: Estudio descriptivo, comparativo de serie de casos retrospectivo. Se incluyeron 54 pacientes con implante de marcapaso entre 2010 y 2011. Se tomaron en cuenta datos clínicos, datos del implante propiamente dicho y sus complicaciones. Resultados: La edad promedio fue 73,7 años. La indicación más frecuente de implante fue bloqueo auriculoventricular (55,6%. La vía de acceso del electrodo ventricular fue disección de vena cefálica izquierda (76,7%. En 66,7% se consiguió estimulación en AVD y en 33,3% en TSVD. La complicación más frecuente fue hematoma de bolsillo (7,4%. No se evidenció diferencias en parámetros y umbrales de estimulación al momento del implante en ambos grupos. Conclusiones: El TSVD ha demostrado ser un lugar adecuado para estimulación; no existiendo diferencias en los umbrales estimulación o impedancia con el AVD.

  10. Comparison of the Effect of Trabeculectomy with Mitomycin C on Corneal Hysteresis in Primary Open-angle Glaucoma and Pseudoexfoliative Glaucoma

    Directory of Open Access Journals (Sweden)

    Ufuk Elgin

    2012-12-01

    Full Text Available Pur po se: To compare the effect of trabeculectomy with mitomycin C (mit C on corneal hysteresis (CH in primary open-angle glaucoma (POAG and pseudoexfoliative glaucoma (PXG. Ma te ri al and Met hod: 21 eyes of 21 patients with PXG (12 male, 9 female, mean age: 67.8±5.6 years and 20 eyes of 20 patients with POAG (12 male, 8 female, mean age: 66.7±6.1 years were included to our prospective study. All of the eyes undergone trabeculectomy with mit C. CH was measured preoperatively and at the first postoperative week and month by using ocular response analyser (ORA. The differences of CH pre and postoperatively between the groups were analyzed statistically by using Mann-Whitney U, Wilcoxon and chi-square tests. Re sults: There were no statistically significant differences in CH (p=0.12, corneal resistance factor (CRF (p=0.054, corneal compensated intraocular pressure (IOPcc (p=0.16, and Goldmann-correlated intraocular pressure (IOPg (p=0.07 between PXG and POAG cases preoperatively. In both PXG and POAG cases, the mean CH increased significantly at the first postoperative week and month (POAG: 1st week p=0.01, 1st month p=0.001; PXG: 1st week p=0.01, 1st month p=0.001. No statistically significant differences were found between the changes of preoperative and postoperative mean CH values between the two groups (1st week p=0.88, 1st month p=0.084. Dis cus si on: In spite of the significant increases in CH at the first postoperative day and month in both POAG and PXG cases, there were no significant differences between the changes of preoperative and postoperative mean CH values between the two groups. The postoperative increase in CH in POAG and PXG cases was thought to be correlated with the decrease in intraocular pressure. (Turk J Ophthalmol 2012; 42: 429-33

  11. A comparative evaluation of working length with digital radiography and third generation apex locator (ProPex) in the presence of various intracanal irrigants: An in vivo/ex vivo study.

    Science.gov (United States)

    Khursheed, Irfana; Bansal, Ruchika; Bansal, Tajinder; Singh, Harkanwal Preet; Yadav, Madhulika; Reddy, K Jetender

    2014-01-01

    Accurate working length determination is a pre-requisite for a successful endodontic treatment. Even with improved systems of working length measurement, different readings may be recorded in different electrolytes present in the canal. The purpose of this in vivo/ex vivo comparative study was to determine the accuracy in measuring the working length of root canal using Direct Digital Radiographic Method (Radiovisiography or RVG) and ProPex electronic apex locator in the presence of three different irrigating solutions: 0.9% normal saline, 2% chlorhexidine, 3% NaOCl solutions. Forty single-rooted human teeth scheduled for extraction with mature apices were selected for this study. Measurements were performed by using RVG and ProPex in the presence of irrigating solutions. After extraction of the teeth, light microscope was used to confirm visually the relationship of the tip of the endodontic file to the apical foramen, and actual lengths were determined by reducing 0.5 mm from this length. The statistical analysis was performed by one-way ANOVA test and Tukey-HSD post hoc procedure. P length and digital radiographic length; however, prediction error (P lengths, whereas NaOCl had the greatest. Electronic apex locator ProPex yielded best result in the presence of chlorhexidine, whereas the largest error was demonstrated with NaOCl indicating that higher electroconductive irrigating solutions affect the precision of multi-frequency apex locators.

  12. A comparative evaluation of working length with digital radiography and third generation apex locator (ProPex in the presence of various intracanal irrigants: An in vivo/ex vivo study

    Directory of Open Access Journals (Sweden)

    Irfana Khursheed

    2014-01-01

    Full Text Available Background: Accurate working length determination is a pre-requisite for a successful endodontic treatment. Even with improved systems of working length measurement, different readings may be recorded in different electrolytes present in the canal. The purpose of this in vivo/ex vivo comparative study was to determine the accuracy in measuring the working length of root canal using Direct Digital Radiographic Method (Radiovisiography or RVG and ProPex electronic apex locator in the presence of three different irrigating solutions: 0.9% normal saline, 2% chlorhexidine, 3% NaOCl solutions. Materials and Methods: Forty single-rooted human teeth scheduled for extraction with mature apices were selected for this study. Measurements were performed by using RVG and ProPex in the presence of irrigating solutions. After extraction of the teeth, light microscope was used to confirm visually the relationship of the tip of the endodontic file to the apical foramen, and actual lengths were determined by reducing 0.5 mm from this length. The statistical analysis was performed by one-way ANOVA test and Tukey-HSD post hoc procedure. P < 0.05 was considered as significant. Results: No significant difference was found between overall mean electronic working length and digital radiographic length; however, prediction error (P < 0.05 was significant with respect to different irrigants. Among the irrigating solutions, chlorhexidine gluconate had the smallest distance to the actual lengths, whereas NaOCl had the greatest. Conclusion: Electronic apex locator ProPex yielded best result in the presence of chlorhexidine, whereas the largest error was demonstrated with NaOCl indicating that higher electroconductive irrigating solutions affect the precision of multi-frequency apex locators.

  13. Diagnosis, monitoring and prevention of exposure-related non-communicable diseases in the living and working environment: DiMoPEx-project is designed to determine the impacts of environmental exposure on human health.

    Science.gov (United States)

    Budnik, Lygia Therese; Adam, Balazs; Albin, Maria; Banelli, Barbara; Baur, Xaver; Belpoggi, Fiorella; Bolognesi, Claudia; Broberg, Karin; Gustavsson, Per; Göen, Thomas; Fischer, Axel; Jarosinska, Dorota; Manservisi, Fabiana; O'Kennedy, Richard; Øvrevik, Johan; Paunovic, Elizabet; Ritz, Beate; Scheepers, Paul T J; Schlünssen, Vivi; Schwarzenbach, Heidi; Schwarze, Per E; Sheils, Orla; Sigsgaard, Torben; Van Damme, Karel; Casteleyn, Ludwine

    2018-01-01

    The WHO has ranked environmental hazardous exposures in the living and working environment among the top risk factors for chronic disease mortality. Worldwide, about 40 million people die each year from noncommunicable diseases (NCDs) including cancer, diabetes, and chronic cardiovascular, neurological and lung diseases. The exposure to ambient pollution in the living and working environment is exacerbated by individual susceptibilities and lifestyle-driven factors to produce complex and complicated NCD etiologies. Research addressing the links between environmental exposure and disease prevalence is key for prevention of the pandemic increase in NCD morbidity and mortality. However, the long latency, the chronic course of some diseases and the necessity to address cumulative exposures over very long periods does mean that it is often difficult to identify causal environmental exposures. EU-funded COST Action DiMoPEx is developing new concepts for a better understanding of health-environment (including gene-environment) interactions in the etiology of NCDs. The overarching idea is to teach and train scientists and physicians to learn how to include efficient and valid exposure assessments in their research and in their clinical practice in current and future cooperative projects. DiMoPEx partners have identified some of the emerging research needs, which include the lack of evidence-based exposure data and the need for human-equivalent animal models mirroring human lifespan and low-dose cumulative exposures. Utilizing an interdisciplinary approach incorporating seven working groups, DiMoPEx will focus on aspects of air pollution with particulate matter including dust and fibers and on exposure to low doses of solvents and sensitizing agents. Biomarkers of early exposure and their associated effects as indicators of disease-derived information will be tested and standardized within individual projects. Risks arising from some NCDs, like pneumoconioses, cancers and

  14. 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 ...

  15. Cushing syndrome

    Science.gov (United States)

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

  16. 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), ...

  17. 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 ...

  18. Management of very high risk pregnancy with secondary anti-phospholipid syndrome and triple positivity to the anti-phospholipid antibodies.

    Science.gov (United States)

    Rose, Hannah L; Ho, Wai Khoon

    2014-11-01

    There is a significantly increased risk of pregnancy complications in women with anti-phospholipid syndrome (APS). The risk is further heightened in those with previous arterial or venous thromboembolism and so-called 'triple positivity' for anti-phospholipid antibodies (i.e., when lupus anticoagulant, and anti-cardiolipin (aCL) and anti-β2 glycoprotein-I (anti-β2Gp-I) antibodies are all detected). Management of these cases is extremely difficult and little is available in the medical literature to guide therapy. This report describes the use of regular plasma exchanges (PEx) to bring about a successful pregnancy outcome in a woman with secondary APS and previous recurrent miscarriages. The patient was also anticoagulated with enoxaparin and administered aspirin, prednisolone, azathioprine and hydroxychloroquine. Through regular PEx and immunomodulation therapy, levels of aCL and anti-β2Gp-I antibodies were monitored and documented to fall as pregnancy progressed. Although the outcome in this case was successful, further experience is required before this regimen can be accepted as the standard of care for these patients at very high risk of pregnancy loss.

  19. 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 ...

  20. Peroxisome biogenesis in mammalian cells

    Directory of Open Access Journals (Sweden)

    Yukio eFujiki

    2014-08-01

    Full Text Available To investigate peroxisome assembly and human peroxisome biogenesis disorders (PBDs such as Zellweger syndrome, thirteen different complementation groups (CGs of Chinese hamster ovary (CHO cell mutants defective in peroxisome biogenesis have been isolated and established as a model research system. Successful gene-cloning studies by a forward genetic approach utilized a rapid functional complementation assay of CHO cell mutants led to isolation of human peroxide (PEX genes. Search for pathogenic genes responsible for PBDs of all 14 CGs is now completed together with the homology search by screening the human expressed sequence tag database using yeast PEX genes. Peroxins are divided into three groups: (1 peroxins including Pex3p, Pex16p and Pex19p, are responsible for peroxisome membrane biogenesis via classes I and II pathways; (2 peroxins that function in matrix protein import; (3 those such as three forms of Pex11p, Pex11pα, Pex11pβ, and Pex11pγ, are involved in peroxisome proliferation where DLP1, Mff, and Fis1 coordinately function. In membrane assembly, Pex19p forms complexes in the cytosol with newly synthesized PMPs including Pex16p and transports them to the receptor Pex3p, whereby peroxisomal membrane is formed (Class I pathway. Pex19p likewise forms a complex with newly made Pex3p and translocates it to the Pex3p receptor, Pex16p (Class II pathway. In matrix protein import, newly synthesized proteins harboring peroxisome targeting signal type 1 or 2 are recognized by Pex5p or Pex7p in the cytoplasm and are imported to peroxisomes via translocation machinery. In regard to peroxisome-cytoplasmic shuttling of Pex5p, Pex5p initially targets to an 800-kDa docking complex consisting of Pex14p and Pex13p and then translocates to a 500-kDa RING translocation complex. At the terminal step, Pex1p and Pex6p of the AAA family mediate the export of Pex5p, where Cys-ubiquitination of Pex5p is essential for the Pex5p exit.

  1. Williams syndrome

    Science.gov (United States)

    A support group can be helpful for emotional support and for giving and receiving practical advice. The following organization provides additional information about Williams Syndrome: Williams Syndrome Association -- www.williams-syndrome.org

  2. WIEDEMANN SYNDROME

    African Journals Online (AJOL)

    hi-tech

    BILATERAL BENIGN HAEMORRHAGIC ADRENAL CYSTS IN BECKWITH - WIEDEMANN. SYNDROME: CASE REPORT. P. ANOOP and M. A. ANJAY. SUMMARY. Beckwith-Wiedemann syndrome is the most common overgrowth malformation syndrome. The classical features include macrosomia, macroglossia, ...

  3. 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 ...

  4. Brown Syndrome

    Science.gov (United States)

    ... extraction) have also been linked to acquired Brown syndrome. Inflammation of the tendon-trochlea complex (from adult and juvenile rheumatoid arthritis, systemic lupus erythematosus and sinusitis) can be ... syndrome hereditary? Hereditary cases of Brown syndrome are rare. ...

  5. Asperger Syndrome

    Science.gov (United States)

    ... Page You are here Home » Disorders » All Disorders Asperger Syndrome Information Page Asperger Syndrome Information Page What research is being done? ... Definition Treatment Prognosis Clinical Trials Organizations Publications Definition Asperger syndrome (AS) is a developmental disorder. It is ...

  6. Peroxisome biogenesis disorders: molecular basis for impaired peroxisomal membrane assembly: in metabolic functions and biogenesis of peroxisomes in health and disease.

    Science.gov (United States)

    Fujiki, Yukio; Yagita, Yuichi; Matsuzaki, Takashi

    2012-09-01

    Peroxisome is a single-membrane organelle in eukaryotes. The functional importance of peroxisomes in humans is highlighted by peroxisome-deficient peroxisome biogenesis disorders (PBDs) such as Zellweger syndrome (ZS). Gene defects of peroxins required for both membrane assembly and matrix protein import are identified: ten mammalian pathogenic peroxins for ten complementation groups of PBDs, are required for matrix protein import; three, Pex3p, Pex16p and Pex19p, are shown to be essential for peroxisome membrane assembly and responsible for the most severe ZS in PBDs of three complementation groups 12, 9, and 14, respectively. Patients with severe ZS with defects of PEX3, PEX16, and PEX19 tend to carry severe mutation such as nonsense mutations, frameshifts and deletions. With respect to the function of these three peroxins in membrane biogenesis, two distinct pathways have been proposed for the import of peroxisomal membrane proteins in mammalian cells: a Pex19p- and Pex3p-dependent class I pathway and a Pex19p- and Pex16p-dependent class II pathway. In class II pathway, Pex19p also forms a soluble complex with newly synthesized Pex3p as the chaperone for Pex3p in the cytosol and directly translocates it to peroxisomes. Pex16p functions as the peroxisomal membrane receptor that is specific to the Pex3p-Pex19p complexes. A model for the import of peroxisomal membrane proteins is suggested, providing new insights into the molecular mechanisms underlying the biogenesis of peroxisomes and its regulation involving Pex3p, Pex19p, and Pex16p. Another model suggests that in Saccharomyces cerevisiae peroxisomes likely emerge from the endoplasmic reticulum. Copyright © 2012 Elsevier B.V. All rights reserved.

  7. DOWN SYNDROME WITH MOYAMOYA SYNDROME

    National Research Council Canada - National Science Library

    Mohan Makwana; R. K. Vishnoi; Jai Prakash Soni; Kapil Jetha; Suresh Kumar Verma; Pradeep Singh Rathore; Monika Choudhary

    2017-01-01

    ...,” in which the arterial changes are seen among patients with various syndromes or other disease processes- Down syndrome, sickle cell anaemia, neurofibromatosis type-1, congenital heart disease...

  8. Kindler syndrome

    Directory of Open Access Journals (Sweden)

    Kaviarasan P

    2005-01-01

    Full Text Available Kindler syndrome is a rare autosomal recessive disorder associated with skin fragility. It is characterized by blistering in infancy, photosensitivity and progressive poikiloderma. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes an 18-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma. The differential diagnosis of Kindler syndrome includes diseases like Bloom syndrome, Cockayne syndrome, dyskeratosis congenita, epidermolysis bullosa, Rothmund-Thomson syndrome and xeroderma pigmentosum. Our patient had classical cutaneous features of Kindler syndrome with phimosis as a complication.

  9. AirPEx: Air Pollution Exposure Model

    NARCIS (Netherlands)

    Freijer JI; Bloemen HJTh; Loos S de; Marra M; Rombout PJA; Steentjes GM; Veen MP van; LBO

    1997-01-01

    Analysis of inhalatory exposure to air pollution is an important area of investigation when assessing the risks of air pollution for human health. Inhalatory exposure research focuses on the exposure of humans to air pollutants and the entry of these pollutants into the human respiratory tract. The

  10. Epitope Mapping Using pEX.

    Science.gov (United States)

    Stanley, K K

    1988-01-01

    Monoclonal and polyclonal antibodies are important tools in molecular and cell biology, allowing protein molecules to be purified (1), identified in immunoblots of gels (2) and sections of biological material (3), and probed for functionally active regions. Studies on the nature of antibody binding sites show that the molecular interaction between an antibody and its antigen is very specific and localized to a small patch on the surface of a molecule (4). For antibodies that inhibit molecular function, it is clearly of value to be able to map their binding site to a physical location on the polypeptide chain. Even antibodies that do not inhibit binding or catalysis of the protein can give useful information since the epitopes of antibodies are located on the surface of an antigen molecule (5-8). Two classes of antibody binding site have been distinguished. In the first-"continuous" epitopes-synthetic peptides are capable of binding to the antibody (9), suggesting that a single loop of the polypeptide chain is predominantly responsible for the antibody binding. In the second-discontinuous epitopes-linear peptides do not bind to the antibody, but the important amino acids can be mapped by mutational analysis (10). These discontinuous epitopes can sometimes be mimicked by peptides that imitate the spacial orientation of the surface residues (11).

  11. AirPEx: Air Pollution Exposure Model

    OpenAIRE

    Freijer JI; Bloemen HJTh; Loos S de; Marra M; Rombout PJA; Steentjes GM; Veen MP van; LBO

    1997-01-01

    Analysis of inhalatory exposure to air pollution is an important area of investigation when assessing the risks of air pollution for human health. Inhalatory exposure research focuses on the exposure of humans to air pollutants and the entry of these pollutants into the human respiratory tract. The principal grounds for studying the inhalatory exposure of humans to air pollutants are formed by the need for realistic exposure/dose estimates to evaluate the health effects of these pollutants. T...

  12. Dumping Syndrome

    Science.gov (United States)

    ... Intestinal Pseudo-obstruction Irritable Bowel Syndrome (IBS) Definition & Facts Symptoms & Causes Diagnosis Treatment Eating, Diet, & Nutrition Clinical Trials Irritable Bowel Syndrome (IBS) in Children Lactose Intolerance Ménétrier’s Disease Microscopic Colitis Ostomy Surgery of the ...

  13. Piriformis syndrome

    Science.gov (United States)

    Pseudosciatica; Wallet sciatica; Hip socket neuropathy; Pelvic outlet syndrome; Low back pain - piriformis ... Sciatica is the main symptom of piriformis syndrome. Other symptoms include: Tenderness or a dull ache in ...

  14. Alagille Syndrome

    Science.gov (United States)

    ... Liver Tumors Biliary Atresia Cirrhosis of the Liver Galactosemia Gilbert’s Syndrome Diseases of the Liver Glycogen Storage ... Liver Tumors Biliary Atresia Cirrhosis of the Liver Galactosemia Gilbert’s Syndrome Diseases of the Liver Glycogen Storage ...

  15. Reye Syndrome

    Science.gov (United States)

    ... Liver Tumors Biliary Atresia Cirrhosis of the Liver Galactosemia Gilbert’s Syndrome Diseases of the Liver Glycogen Storage ... Liver Tumors Biliary Atresia Cirrhosis of the Liver Galactosemia Gilbert’s Syndrome Diseases of the Liver Glycogen Storage ...

  16. Zellweger Syndrome

    Science.gov (United States)

    ... Zellweger syndrome (ZS, the most severe form), neonatal adrenoleukodystrophy (NALD), and Infantile Refsum disease (IRD, the least ... Zellweger syndrome (ZS, the most severe form), neonatal adrenoleukodystrophy (NALD), and Infantile Refsum disease (IRD, the least ...

  17. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    Criton S

    1995-01-01

    Full Text Available Proteus syndrome is a hamartomatous disorder characterised by focal overgrowths that can involve any structure of the body. An eleven-year-old girl with Proteus syndrome has been described with clitoromegaly.

  18. Overlap syndromes

    NARCIS (Netherlands)

    Beuers, Ulrich; Rust, Christian

    2005-01-01

    In hepatology, the term overlap syndrome describes variant forms of the major hepatobiliary autoimmune diseases, autoimmune hepatitis (AIH), primary biliary cirrhosis (PBC), and primary sclerosing cholangitis (PSC). Patients with overlap syndromes present with both hepatitic and cholestatic

  19. Metabolic Syndrome

    Science.gov (United States)

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

  20. 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, ...

  1. 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 ...

  2. 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 X ... work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...

  3. 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 ...

  4. 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. ...

  5. Alport Syndrome

    Science.gov (United States)

    ... body. Many people with Alport syndrome also have hearing problems and abnormalities with their eyes. Other signs and ... and inherited type of Alport syndrome. For example, hearing and vision problems tend to be more common in males than ...

  6. Moebius Syndrome

    Science.gov (United States)

    ... eye sensitivity; motor delays; high or cleft palate; hearing problems and speech difficulties. Children with Moebius syndrome are ... eye sensitivity; motor delays; high or cleft palate; hearing problems and speech difficulties. Children with Moebius syndrome are ...

  7. Heart and Down Syndrome

    Science.gov (United States)

    ... 4602 [email protected] Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ... Helpline » Follow us Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ...

  8. Down Syndrome: Education

    Science.gov (United States)

    ... 4602 [email protected] Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ... Helpline » Follow us Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ...

  9. Dental Issues & Down Syndrome

    Science.gov (United States)

    ... 4602 [email protected] Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ... Helpline » Follow us Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ...

  10. Down Syndrome: Education

    Science.gov (United States)

    ... Our Team Financial Information NDSS History About Down Syndrome Down Syndrome Preferred Language Guide Down Syndrome Facts Down ... Our Team Financial Information NDSS History About Down Syndrome Down Syndrome Down Syndrome Facts Preferred Language Guide Publications ...

  11. Facts About Usher Syndrome

    Science.gov (United States)

    ... Usher Syndrome > Facts About Usher Syndrome Facts About Usher Syndrome This information was developed by the National Eye ... is the best person to answer specific questions. Usher Syndrome Defined What is Usher syndrome? Usher syndrome is ...

  12. International Rett Syndrome Foundation

    Science.gov (United States)

    ... Newsletters & Reports About Rett Syndrome What is Rett Syndrome? Rett Syndrome Diagnosis Boys with MECP2 Clinics FAQs Glossary ... Newsletters & Reports About Rett Syndrome What is Rett Syndrome? Rett Syndrome Diagnosis Boys with MECP2 Clinics FAQs Glossary ...

  13. [Capgras syndrome].

    Science.gov (United States)

    Alcoverro Fortuny, O; Sierra Acín, A C

    2001-01-01

    The authors report a case of Capgras' syndrome in a 16-years-old child, who had been hospitalized for psychotic disorder. A review of the literature is performed. Most authors state that Capgras' syndrome would represent a symptom of underlying medical o functional disorders, although the term syndrome is used. The main etiopathogenic hypothesis of this syndrome are put forward (psychodynamic, disconnection, neuropsychological and medical).

  14. Metabolic Syndrome

    Science.gov (United States)

    ... much saturated fat, and does not get enough physical activity may develop metabolic syndrome. Other causes include insulin resistance and a family ... you’re overweight. It also includes getting more physical activity and eating a ... syndrome treatment If you already have metabolic syndrome, making ...

  15. Goodpasture Syndrome

    Science.gov (United States)

    ... necessary. Eating, Diet, and Nutrition Eating, diet, and nutrition have not been shown to play a role in causing or preventing Goodpasture syndrome. Points to Remember Goodpasture syndrome is a pulmonary-renal syndrome, which is a group of acute illnesses ...

  16. [Reye's syndrome].

    Science.gov (United States)

    Yoshida, I

    2000-11-01

    A nationwide survey on Reye's syndrome(RS) was described. And problems between RS and influenza virus such as etiology, pathophysiology, differential diagnosis and epidemiology were reviewed. So-called aspirin issue on RS was re-evaluated according to recent advance of RS research. Finally future aspect of Reye's syndrome was also discussed.

  17. Reye's Syndrome

    Science.gov (United States)

    ... Page You are here Home » Disorders » All Disorders Reye's Syndrome Information Page Reye's Syndrome Information Page What research is being done? Much ... Information from the National Library of Medicine’s MedlinePlus Reye's Syndrome × What research is being done? Much of the ...

  18. [Cardiorenal syndrome].

    Science.gov (United States)

    Salleck, D; John, S

    2017-09-13

    Patients in the intensive care unit often suffer from cardiorenal syndrome, which can have an important influence on the patient's outcome. The heart and kidney influence each other via organ crosstalk. We screened and evaluated current publications on cardiorenal syndromes and their therapy. A key role in the management of cardiorenal syndromes is renal decongestion via loop diuretics.

  19. DOWN SYNDROME WITH MOYAMOYA SYNDROME

    Directory of Open Access Journals (Sweden)

    Mohan Makwana

    2017-04-01

    Full Text Available BACKGROUND Moyamoya disease is a disorder of blood vessels in the brain, specifically the internal carotid arteries and the arteries that branch from them. The primary idiopathic form “moyamoya disease” has been distinguished from an associated form of “moyamoya syndrome,” in which the arterial changes are seen among patients with various syndromes or other disease processes- Down syndrome, sickle cell anaemia, neurofibromatosis type-1, congenital heart disease, fibromuscular dysplasia, activated protein C resistance, or head trauma. There have been only 47 previous cases of moyamoya syndrome in association with Down syndrome reported in the world literature. Recently, we have come across a Case of Downs’ Syndrome with Moyamoya Syndrome. Because of its rarity we want to report our case.

  20. METABOLIC SYNDROME

    OpenAIRE

    Dikanović, Marinko

    2015-01-01

    Metabolic syndrome is a cluster of disorders that include hyperlipidemia, inadequate insulin resistance, hypertension, and abdominal type obesity. Patients who suffer from this syndrome have an increased risk for heart disease and blood vessel disease, stroke and type II diabetes. The world's leading healthcare institutions also disagree on the exact definition of this organization poremećaja. NCEP (National Cholesterol Education Program) defines metabolic syndrome as a situation in which the...

  1. 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.

  2. 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.

  3. [Caroli's syndrome].

    Science.gov (United States)

    Li, Ji; Qiu, Zheng-Qing; Wei, Min

    2009-01-01

    Caroli's syndrome is a rare autosomal recessive hereditary disease. Here a case of Caroli's syndrome associated with medullary sponge kidney was reported. The patient was a 2-years and 10 months-old boy. He presented with hepatosplenomegaly. Fever, abdominal pain or jaundice was not found. The imaging examination showed intrahepatic bile duct dilation, splenomegaly, medullary sponge kidney and nephrocalcinosis. After introduction of the case, this paper reviewed the clinical characteristics, diagnosis and treatment of Caroli's syndrome.

  4. Troyer Syndrome

    Science.gov (United States)

    ... Syndrome Information Page NINDS Whiplash Information Page NINDS Infantile Spasms Information Page NINDS Myotonia Congenita Information Page NINDS Ataxias and Cerebellar or Spinocerebellar Degeneration Information Page Congenital ...

  5. [Cardiorenal syndromes].

    Science.gov (United States)

    Késöi, István; Sági, Balázs; Vas, Tibor; Pintér, Tünde; Kovács, Tibor; Wittmann, István; Nagy, Judit

    2011-09-18

    Cardiac and kidney diseases are very common, and increasingly coexist. Classification for cardiorenal syndrome and for its specific subtypes has been developed and published recently by a consensus group of the Acute Dialysis Quality Initiative. Cardiorenal syndromes have been classified according to whether the impairment of each organ is primary, secondary or whether heart and kidney dysfunction occurs simultaneously as a systemic disease. The different syndromes were classified into five subtypes. Type-1: acute cardiorenal syndrome: an abrupt worsening of cardiac function leading to acute kidney injury and/or dysfunction. Type-2: chronic cardiorenal syndrome: chronic abnormalities in cardiac function causing kidney injury and/or dysfunction. Type-3: acute renocardiac syndrome: abrupt worsening of kidney function leading to heart injury and/or dysfunction. Type-4: chronic renocardiac syndrome: chronic kidney diseases leading to heart injury, disease and/or dysfunction. Type-5: secondary cardiorenal syndrome: acute or chronic systemic diseases leading to simultaneous injury and/or dysfunction of heart and kidney. The identification of patients and the pathophysiological mechanisms underlying each syndrome subtype will help cardiologists, nephrologists and physicians working on intensive care units to characterize groups of their patients with cardiac and renal impairment and to provide a more accurate treatment for them.

  6. Down Syndrome: Eye Problems

    Science.gov (United States)

    ... En Español Read in Chinese What causes Down syndrome? Down syndrome is caused by a duplication of all ... in persons with Down syndrome. How common is Down syndrome? The frequency of Down syndrome is approximately 1 ...

  7. 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 ...

  8. 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 ...

  9. A Rare Syndrome: Balint Syndrome

    OpenAIRE

    Gülnur Tekgöl Uzuner; Özge Keleş; Nevzat Uzuner

    2016-01-01

    Balint’s syndrome is a rare disorder affecting the ability to perceive the visual field as a whole, most commonly following damage to the bilateral occipital and parietal regions. This syndrome has three components as simultanagnosia, optic ataxia, and oculomotor apraxia. Simultanagnosia play a key role in this syndrome. Sixty-two years old male patient who applied the blindness symptom has been evaluated in outpatient clinic. We observed that there are some deficits in perceive of visual fie...

  10. Cockayne syndrome.

    Science.gov (United States)

    Levinson, E D; Zimmerman, A W; Grunnet, M L; Lewis, R A; Spackman, T J

    1982-12-01

    The diagnosis of Cockayne syndrome was established with the aid of cranial computed tomography (CT) in a child with growth deficiency, mental retardation, and neurologic findings which are typical for this rare childhood disorder. Calcification of basal ganglia and hydrocephalus ex vacuo are neuropathologic characteristics of Cockayne syndrome which may be present on CT as early as 3 years of age.

  11. Ascher syndrome

    Directory of Open Access Journals (Sweden)

    Zhifang Zhai

    2015-03-01

    Full Text Available Ascher syndrome is a rare, benign skin disorder characterized by a double upper lip, blepharochalasis, and nontoxic enlargement of the thyroid gland. The exact cause is unknown, but it is considered to be a hereditary disease with an autosomal dominant trait. We report here a case of forme fruste Ascher syndrome in a 29-year-old man.

  12. 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.

  13. 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....

  14. Kounis syndrome

    African Journals Online (AJOL)

    Kounis syndrome is characterised by a group of symptoms that manifest as unstable vasospastic or nonvasospastic angina secondary ... to coronary arterial involvement, Kounis syndrome comprises other arterial systems with similar physiologies, such as mesenteric and cerebral ... a likely diagnosis and blood was sent for.

  15. Cardiorenal syndrome

    OpenAIRE

    Schetz, Miet

    2009-01-01

    Kidney dysfunction in patients with heart failure and cardiovascular disorders in patients with chronic kidney disease are common. A recently proposed consensus definition of cardiorenal syndrome stresses the bidirectional nature of these heart-kidney interactions. The treatment of cardiorenal syndrome is challenging, however, promising new therapeutic options are currently being investigated in recent and ongoing clinical trials.

  16. 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 ...

  17. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    George Renu

    1993-01-01

    Full Text Available A case of proteus syndrome in a 20 year old male is repoted. Hemihypertrophy, asymmetric megalodactyly, linear epidermal naevus, naevus flammeus, angiokeratoma, lymphangioma circumscriptum, thickening of the palms and soles, scoliosis and varicose veins were present. There are only few reports of these cases in adults. The syndrome has not been reported from India.

  18. Marshall's syndrome*

    Science.gov (United States)

    Fontenelle, Elisa; de Almeida, Ana Paula Moura; Souza, Gabriela Maria Assis de Almeida

    2013-01-01

    Marshall´s syndrome is a form of acquired cutis laxa without systemic involvement, which is preceded by an inflammatory dermatitis with a neutrophilic component. We report a case of a 6-year-old boy with clinical and histopathological features of this syndrome. The etiology remains unknown and there is no definitive treatment. PMID:23739715

  19. 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.

  20. [CREST syndrome].

    Science.gov (United States)

    Meyer, Olivier

    2002-05-01

    CREST syndrome has been described as a form of progressive systemic sclerosis in which there is relatively limited involvement of the skin, prominence of calcinosis, Raynaud's phenomenon, esophageal dysfunction and telangiectasia. The acronym CREST was coined in 1964 by Winterbauer in the USA but the very first case report was by French physicians Thibierge and Weissenbach in 1910. Antinuclear antibodies recognizing chromosomal centromere proteins are characteristic of CREST syndrome and are present in more than 50% of the cases. The prognosis of CREST syndrome is relatively good with a long lasting disease duration (>10 years). Two complications are seldom associated with CREST syndrome: digital gangrene with finger losses and pulmonary hypertension (3 to 14% of CREST syndrome). Pulmonary hypertension is a very late event and the prognosis is very severe (mortality rate of 50% after 2 years).

  1. [Syndromic autism: II. Genetic syndromes associated with autism].

    Science.gov (United States)

    Artigas-Pallarés, J; Gabau-Vila, E; Guitart-Feliubadaló, M

    2005-01-15

    In this study we report on the different genetic syndromes in which autism has been described as one of the possible manifestations. Certain genetic syndromes are providing us with extremely valuable information about the role played by genetics in autism. This is the case of the following syndromes: Angelman syndrome, Prader-Willi syndrome, 15q11-q13 duplication, fragile X syndrome, fragile X premutation, deletion of chromosome 2q, XYY syndrome, Smith-Lemli-Opitz syndrome, Apert syndrome, mutations in the ARX gene, De Lange syndrome, Smith-Magenis syndrome, Williams syndrome, Rett syndrome, Noonan syndrome, Down syndrome, velo-cardio-facial syndrome, myotonic dystrophy, Steinert disease, tuberous sclerosis, Duchenne's disease, Timothy syndrome, 10p terminal deletion, Cowden syndrome, 45,X/46,XY mosaicism, Myhre syndrome, Sotos syndrome, Cohen syndrome, Goldenhar syndrome, Joubert syndrome, Lujan-Fryns syndrome, Moebius syndrome, hypomelanosis of Ito, neurofibromatosis type 1, CHARGE syndrome and HEADD syndrome.

  2. Isolation of Penicillium chrysogenum PEX1 and PEX6 encoding AAA proteins involved in peroxisome biogenesis

    NARCIS (Netherlands)

    Kiel, JAKW; Hilbrands, RE; Bovenberg, RAL; Veenhuis, M

    In Penicillium chrysogenum, key enzymes involved in the production of penicillin reside in peroxisomes. As a first step to understand the role of these organelles in penicillin biosynthesis, we set out to isolate the genes involved in peroxisome biogenesis. Here we report the cloning and

  3. Neuroacanthocytosis Syndromes

    Directory of Open Access Journals (Sweden)

    Walker Ruth H

    2011-10-01

    Full Text Available Abstract Neuroacanthocytosis (NA syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants for each disorder. The core NA syndromes include autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome which have a Huntington´s disease-like phenotype consisting of a choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional multi-system features including myopathy and axonal neuropathy. In addition, cardiomyopathy may occur in McLeod syndrome. Acanthocytes are also found in a proportion of patients with autosomal dominant Huntington's disease-like 2, autosomal recessive pantothenate kinase-associated neurodegeneration and several inherited disorders of lipoprotein metabolism, namely abetalipoproteinemia (Bassen-Kornzweig syndrome and hypobetalipoproteinemia leading to vitamin E malabsorption. The latter disorders are characterized by a peripheral neuropathy and sensory ataxia due to dorsal column degeneration, but movement disorders and cognitive impairment are not present. NA syndromes are caused by disease-specific genetic mutations. The mechanism by which these mutations cause neurodegeneration is not known. The association of the acanthocytic membrane abnormality with selective degeneration of the basal ganglia, however, suggests a common pathogenetic pathway. Laboratory tests include blood smears to detect acanthocytosis and determination of serum creatine kinase. Cerebral magnetic resonance imaging may demonstrate striatal atrophy. Kell and Kx blood group antigens are reduced or absent in McLeod syndrome. Western blot for chorein demonstrates absence of this protein in red blood cells of chorea-acanthocytosis patients. Specific genetic testing is possible in all NA syndromes

  4. 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...... a variety of infectious complications. Rapid diagnosis and treatment is necessary to avoid severe complications or death. Close collaboration with local microbiologist is pivotal. Treatment consists of longterm treatment with penicillin and metronidazole. This is a case report of Lemierre's syndrome....

  5. 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.

  6. Moebius syndrome.

    OpenAIRE

    J Gordon Millichap

    1990-01-01

    Brain stem calcification on CT scan, suggesting prenatal brain stem ischemia, is reported in an infant with Moebius syndrome examined in the Department of Pediatrics and Neonatal Medicine, State University of Gent, Gent, Belgium.

  7. Sjogren's Syndrome

    Science.gov (United States)

    ... the set located behind your jaw and in front of your ears Skin rashes or dry skin Vaginal dryness Persistent dry cough Prolonged fatigue Causes Sjogren's syndrome is an autoimmune disorder. Your immune system mistakenly ...

  8. Fahr's Syndrome

    Science.gov (United States)

    ... from the National Library of Medicine’s MedlinePlus Genetic Brain Disorders Show More Show Less ... Definition Fahr's Syndrome is a rare, genetically dominant, inherited neurological disorder characterized by abnormal deposits of ...

  9. Bart syndrome

    Directory of Open Access Journals (Sweden)

    Gaikwad Anil

    1993-01-01

    Full Text Available An infant presenting with extensive aplasia cutis on lower extremities later developed blisters on skin and mucous membrane. Clinical features and histopathological examination of skin favoured the diagnosis of Bart syndrome.

  10. [Heptopulmonary syndrome].

    Science.gov (United States)

    Cuadrado, Antonio; Díaz, Ainhoa; Iruzubieta, Paula; Salcines, José Ramón; Crespo, Javier

    2015-01-01

    Hepatopulmonary syndrome is characterized by the presence of liver disease, pulmonary vascular dilatations, and arterial hypoxemia. It is usually associated with cirrhosis of any origin, but has been described in other liver diseases, both acute and chronic, and not always associated with portal hypertension. The gold standard method to detect pulmonary vascular dilations is contrast enhancement echocardiography with saline and is essential for the diagnosis of hepatopulmonary syndrome. These dilatations reflect changes in the pulmonary microvasculature (vasodilatation, intravascular monocyte accumulation, and angiogenesis) and induce a ventilation/perfusion mismatch, or even true intrapulmonary shunts, which eventually trigger hypoxemia. This syndrome worsens patients' prognosis and impairs their quality of life and may lead to the need for liver transplantation, which is the only effective and definitive treatment. In this article, we review the etiological, pathophysiological, clinical and therapeutic features of this syndrome. Copyright © 2015 Elsevier España, S.L.U. and AEEH y AEG. All rights reserved.

  11. 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 ... medicine to treat an inflammatory disease leads to Cushing's. Some kinds of tumors produce a hormone that ...

  12. Gerstmann's Syndrome

    Science.gov (United States)

    ... drawings. Frequently, there is also an impairment in reading. Children with a high level of intellectual functioning as well as those with brain damage may be affected with the disorder. × Definition Gerstmann's syndrome is a cognitive impairment that results ...

  13. Paraneoplastic Syndromes

    Science.gov (United States)

    ... Division of Neuroscience Director, NIH BRAIN Initiative® Health Scientist Administrator Channels Synapses Circuits Cluster Scientific Director, Division of Intramural Research Featured Director's Message menu search Enter Search Term Submit Search Paraneoplastic Syndromes Information ...

  14. Antiphospholipid Syndrome

    Science.gov (United States)

    ... Division of Neuroscience Director, NIH BRAIN Initiative® Health Scientist Administrator Channels Synapses Circuits Cluster Scientific Director, Division of Intramural Research Featured Director's Message menu search Enter Search Term Submit Search Antiphospholipid Syndrome Information ...

  15. Cushing's Syndrome

    Science.gov (United States)

    ... hormone. People suffering from depression, alcoholism, malnutrition, or panic disorders also have increased cortisol levels. When the ... five times more often than men. Ectopic ACTH Syndrome Some benign or, more often, cancerous tumors that ...

  16. Reye's Syndrome

    Science.gov (United States)

    ... vomiting Diarrhea Reye's syndrome Symptoms & causes Diagnosis & treatment Advertisement Mayo Clinic does not endorse companies or products. ... a Job Site Map About This Site Twitter Facebook Google YouTube Pinterest Mayo Clinic is a not- ...

  17. Ohtahara Syndrome

    Science.gov (United States)

    ... a focal brain lesion (damage contained to one area of the brain) surgery may be beneficial. Other therapies are ... Wernicke-Korsakoff Syndrome Information Page NINDS Whiplash Information Page ...

  18. Noonan syndrome

    Science.gov (United States)

    ... chest shape (most often a sunken chest called pectus excavatum) Webbed and short-appearing neck Exams and Tests ... to consider genetic counseling before having children. Images Pectus excavatum References Ali O, Donohoue PA. Noonan syndrome. In: ...

  19. Klinefelter syndrome

    Science.gov (United States)

    Infertility is the most common symptom of Klinefelter syndrome. Symptoms may include any of the following: Abnormal body proportions (long legs, short trunk, shoulder equal to hip size) Abnormally large breasts ( gynecomastia ) ...

  20. Angelman syndrome

    Science.gov (United States)

    ... the gene Other tests may include: Brain MRI EEG Treatment There is no cure for Angelman syndrome. ... nih.gov/pubmed/20301323 . Accessed August 1, 2015. Review Date 8/1/2015 Updated by: Chad Haldeman- ...

  1. Barth Syndrome

    DEFF Research Database (Denmark)

    Saric, Ana; Andreau, Karine; Armand, Anne-Sophie

    2016-01-01

    Mutations in the gene encoding the enzyme tafazzin, TAZ, cause Barth syndrome (BTHS). Individuals with this X-linked multisystem disorder present cardiomyopathy (CM) (often dilated), skeletal muscle weakness, neutropenia, growth retardation, and 3-methylglutaconic aciduria. Biopsies of the heart,...

  2. Down Syndrome

    Science.gov (United States)

    ... programs can help improve skills. They may include speech, physical, occupational, and/or educational therapy. With support and treatment, many people with Down syndrome live happy, productive lives. NIH: National Institute of Child Health and Human Development

  3. Brugada Syndrome

    Science.gov (United States)

    ... history of survived sudden cardiac arrest Because of the nature of the heart rhythm abnormality, medications usually aren’t used to treat Brugada syndrome. A medical device called an implantable cardioverter-defibrillator is the ...

  4. Marfan Syndrome

    Science.gov (United States)

    ... whether you have Marfan syndrome. Medical and Family Histories Your doctor will ask about your medical history ... and football. You also may need to avoid sports that involve physical contact with other players or ...

  5. Down syndrome

    Science.gov (United States)

    ... that may cause problems with chewing Underactive thyroid ( hypothyroidism ) Exams and Tests A doctor can often make ... those with Down syndrome to: Be taught about pregnancy and taking the proper precautions Learn to advocate ...

  6. Turner Syndrome

    Science.gov (United States)

    ... have an increased risk of an underactive thyroid (hypothyroidism) due to the autoimmune disorder Hashimoto's thyroiditis. They also have an increased risk of diabetes. Some women with Turner syndrome have gluten intolerance (celiac disease) or inflammatory bowel disease. Skeletal ...

  7. Marfan syndrome

    Science.gov (United States)

    ... at least once every year. Alternative Names Aortic aneurysm - ... syndrome. In: Kliegman RM, Stanton BF, St Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics . 20th ed. Philadelphia, PA: Elsevier; 2016:chap 702. ...

  8. Horner syndrome

    Science.gov (United States)

    ... whether treatment of the cause is successful. Possible Complications There are no direct complications of Horner syndrome ... Jankovic J, Mazziotta JC, Pomeroy SL, eds. Bradley's Neurology in Clinical Practice . 7th ed. Philadelphia, PA: Elsevier; ...

  9. Dravet Syndrome

    Science.gov (United States)

    ... NINDS Focus on Research Alzheimer's & Related Dementias Bioengineering Epilepsy Health Disparities Neural Interfaces Parkinson's Disease Spinal Cord ... basic and clinical research on all types of epilepsy, including Dravet syndrome. Study of the genetic defects ...

  10. Tourette Syndrome

    Science.gov (United States)

    ... Barré Syndrome Information Page Headache Information Page Hemicrania Continua Information Page Hemifacial Spasm Information Page Hereditary Spastic ... the Spotlight Find NINDS Clinical Trials Patient & Caregiver Education Fact Sheets Hope Through Research Know Your Brain ...

  11. Cockayne syndrome

    DEFF Research Database (Denmark)

    Karikkineth, Ajoy C; Scheibye-Knudsen, Morten; Fivenson, Elayne

    2017-01-01

    Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties...

  12. Goldenhar Syndrom

    Directory of Open Access Journals (Sweden)

    fariba Tarhani

    2012-03-01

    Conclusion: Goldenhar Syndrome is a congenital abnormally which manly affects face, but another organs involvement should be considered .Cardiac problems are the main causes of death in these patients.

  13. Cockayne Syndrome

    Directory of Open Access Journals (Sweden)

    Sharma Nand Lal

    2003-01-01

    Full Text Available Cockayne syndrome is a rare autosomal recessive disease of complex clinical phenotype that usually presents in early childhood. Characteristically the child presents with delayed milestones, growth and mental retardation associated with typical facies, photosensitivity, retinitis pigmentosa, deafness and ataxia. The various features are attributed to abnormal transcription rather than abnormal repair of photodamaged DNA. Based on clinical criteria a classical case of Cockayne syndrome in a 7 year old girl is described.

  14. Reye's Syndrome

    OpenAIRE

    Malcolmson, C.H.

    1987-01-01

    The author defines and discusses Reye's syndrome and the hypotheses relating to its causes and associating its incidence with that of chickenpox and influenza A and B. The recent decline in the incidence of Reye's syndrome appears to be related to the reduced use of Aspirin in children and adolescents. Although evidence so far is circumstantial, North American P(a)ediatric Associations have indicated that Aspirin should not be used to control fever in children who have viral infections but es...

  15. Binder syndrome.

    Science.gov (United States)

    Chummun, Shaheel; McLean, N R; Nugent, M; Anderson, P J; David, David J

    2012-07-01

    Patients with chondrodysplasia punctata (CDP) usually present with Binder-type features, and often CDP is misdiagnosed as Binder syndrome. This study reviewed the management and outcome of patients with Binder syndrome and CDP in a multidisciplinary setting. The notes and radiographs of the patients managed at the Australian Craniofacial Unit with a multidisciplinary setting since 1976 were reviewed, and data were collected on patient demographics, associated medical and surgical problems, subsequent management, and complications. Seventy-seven patients were treated over the 30-year period (5 patients were lost to follow-up); of the remaining 72 patients, 60 (83%) had Binder syndrome, and 12 (17%) were patients with CDP. Forty were males, and 32 were females, with an age range of 6 months to 47 years. Thirteen patients (18%) had a strong family history, and 65 patients (90%) have so far undergone surgical correction, and of those, 35 (54%) have completed their treatment, the longest follow-up time being 18 years. The mean number of surgical procedures was 2.4, and 18 patients (28%) had postoperative complications, which included partial necrosis of the maxilla, osteomyelitis of the mandible, facial nerve and inferior alveolar nerve neuropraxia, nasal bone graft exposure, and cellulitis. Because of the phenotypic characteristics shared by both Binder syndrome and CDP, it is most likely that Binder syndrome is not a syndrome, nor is it an entity, but most likely to be an "association." We would advocate that these patients should be managed in a multidisciplinary setting.

  16. What Is Down Syndrome?

    Science.gov (United States)

    ... the Likelihood of Having a Child with Down Syndrome? Down syndrome occurs in people of all races and ... care and treatment of babies born with Down syndrome. Does Down Syndrome Run in Families? All 3 types of ...

  17. Proteus Syndrome Foundation

    Science.gov (United States)

    ... Gift Stock Gift Sunshine Society Contact Privacy Policy Proteus Syndrome Foundation CLICK HERE to watch Dr. Leslie ... 1 Trial with ARQ 092 in Proteus Syndrome Proteus Syndrome Patient Registry The Proteus Syndrome Foundation Contact ...

  18. Obesity Hypoventilation Syndrome

    Science.gov (United States)

    ... Home / Obesity Hypoventilation Syndrome Obesity Hypoventilation Syndrome Also known as Pickwickian Syndrome What ... your neck is larger than normal. Complications of Obesity Hypoventilation Syndrome When left untreated, OHS can cause ...

  19. Metabolic Syndrome (For Parents)

    Science.gov (United States)

    ... Needs a Kidney Transplant Vision Facts and Myths Metabolic Syndrome KidsHealth > For Parents > Metabolic Syndrome Print A A ... this is a condition called metabolic syndrome . About Metabolic Syndrome Not to be confused with metabolic disease (which ...

  20. What is Metabolic Syndrome?

    Science.gov (United States)

    ... Research Home / Metabolic Syndrome Metabolic Syndrome What Is Metabolic syndrome is the name for a group of risk ... three metabolic risk factors to be diagnosed with metabolic syndrome. A large waistline. This also is called abdominal ...

  1. 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 ...

  2. Rett Syndrome Fact Sheet

    Science.gov (United States)

    ... can I get more information? What is Rett syndrome? Rett syndrome is a neurodevelopmenal disorder that affects girls ... as “asymptomatic female carriers.” top Who gets Rett syndrome? Rett syndrome is estimated to affect one in every ...

  3. Rett Syndrome: Overview

    Science.gov (United States)

    ... Syndrome Share Facebook Twitter Pinterest Email Print Rett Syndrome Rett syndrome is a neurological and developmental genetic disorder ... ultimately reverse the disorder's effects. Common Names Rett syndrome Rett disorder RTT Medical or Scientific Names Autism-dementia- ...

  4. Down Syndrome (For Kids)

    Science.gov (United States)

    ... Skating Living With Stepparents Be a Green Kid Down Syndrome KidsHealth > For Kids > Down Syndrome Print A A ... skills. continue Do a Lot of People Have Down Syndrome? Down syndrome is not contagious , so you can' ...

  5. A Rare Syndrome: Balint Syndrome

    Directory of Open Access Journals (Sweden)

    Gülnur Tekgöl Uzuner

    2016-04-01

    Full Text Available Balint’s syndrome is a rare disorder affecting the ability to perceive the visual field as a whole, most commonly following damage to the bilateral occipital and parietal regions. This syndrome has three components as simultanagnosia, optic ataxia, and oculomotor apraxia. Simultanagnosia play a key role in this syndrome. Sixty-two years old male patient who applied the blindness symptom has been evaluated in outpatient clinic. We observed that there are some deficits in perceive of visual field rather than blindness in neurologic examination of the patient. He had simultanagnosia, optic ataxia and oculomotor apraxia. There are multiple infarcts in bilaterally occipital and parietal regions in the patient’s cerebral MRI. In this case, we have present a rare disorder of the Balint’s syndrome.

  6. Nevoid basal cell carcinoma syndrome (Gorlin syndrome)

    National Research Council Canada - National Science Library

    Lo Muzio, Lorenzo

    2008-01-01

    Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms...

  7. 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.

  8. 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 ...

  9. Refeeding syndrome.

    Science.gov (United States)

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

    2008-07-01

    We report a case of a fifty-year-old male who was admitted with a three month history of increasing weakness, prostration, decreasing appetite and inability to swallow. The patient was a chronic alcoholic, unemployed, and of very poor socioeconomic background. The patient was initially investigated for upper GI malignancy, Addisons disease, bulbar palsy and other endocrinopathies. Concurrent management was started for severe electrolyte abnormalities and enteral nutritional supplementation was begun. By the fourth day of feeding patient developed severe hypophosphatemia and other life-threatening features suggesting refeeding syndrome. The patient was managed for the manifestations of refeeding syndrome. A final diagnosis of chronic alcoholic malnutrition with refeeding syndrome was made. Refeeding of previously starving patients may lead to a variety of complications including sudden death.

  10. CLOVES syndrome.

    Science.gov (United States)

    Bloom, Jacob; Upton, Joseph

    2013-12-01

    A cohort of patients with overgrowth syndromes has been identified with congenital lipomatous overgrowth, dysregulated fat deposits, and mixed vascular malformations. The acronym CLOVES was given on a heuristic basis to stand for congenital lipomatous overgrowth (CLO), vascular malformation (V), epidermal nevi (E), and scoliosis and spinal deformities (S). These patients have upper limb anomalies with variable phenotypes. Although hand anomalies alone cannot make the diagnosis, the foot, truncal, cutaneous and spinal anomalies are particularly diagnostic. CLOVES syndrome has emerged as a distinct clinical entity diagnosed by clinical and radiographic examinations. The overgrowth pattern is now easily distinguished from other overgrowth syndromes. Copyright © 2013 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.

  11. Compartment syndromes

    Science.gov (United States)

    Mubarak, S. J.; Pedowitz, R. A.; Hargens, A. R.

    1989-01-01

    The compartment syndrome is defined as a condition in which high pressure within a closed fascial space (muscle compartment) reduces capillary blood perfusion below the level necessary for tissue viability'. This condition occurs in acute and chronic (exertional) forms, and may be secondary to a variety of causes. The end-result of an extended period of elevated intramuscular pressure may be the development of irreversible tissue injury and Volkmann's contracture. The goal of treatment of the compartment syndrome is the reduction of intracompartmental pressure thus facilitating reperfusion of ischaemic tissue and this goal may be achieved by decompressive fasciotomy. Controversy exists regarding the critical pressure-time thresholds for surgical decompression and the optimal diagnostic methods of measuring intracompartmental pressures. This paper will update and review some current knowledge regarding the pathophysiology, aetiology, diagnosis, and treatment of the acute compartment syndrome.

  12. Usher Syndrome

    Directory of Open Access Journals (Sweden)

    Ana Fakin

    2012-06-01

    Full Text Available Usher syndrome is an autosomal recessive disease with prevalence of 3–6/100.000 and is the most common syndrome that affects vision and hearing. Three subtypes are distinguished on the basis of different degree of hearing loss. All patients develop retinitis pigmentosa with night vision difficulties and constriction of visual field, and ultimately a decline in visual acuity and color vision. Future holds promise for gene therapy. We present a patient with typical clinical picture of Usher syndrome, who started noticing night vision problems at age 13. At age 25 he was operated on for posterior cortical cataracts. At age 34 he has only 5–10° of visual field remaining with 1.0 visual acuity in both eyes. Fundus autofluorescence imaging revealed a typical hyperautofluorescent ring on the border between normal and affected retina.

  13. Postconcussional Syndrome

    Directory of Open Access Journals (Sweden)

    Necla Keskin

    2013-02-01

    Full Text Available Postconcussional syndrome is characterized by somatic, cognitive and psychiatric (emotional, behavioral symptoms that occurs after mild traumatic brain injury. It has been known that these symptoms recover fully within 3-6 months almost in 90% of patients. Although its etiology is still controversial, biological, psychological and social factors may account for the development and continuation of the symptoms. Diagnosis is based on the subjective complaints. To find out an objective method for definite diagnosis, trials searching for both neuroimaging and specific serum biomarkers stil continue. The treatment of the syndrome is mainly of palliative nature. Information, education, reassurance and multifaceted rehabilitation programmes can be beneficial. There are promising trials reporting the effectiveness of cognitive behavioral therapy in the treatment of postconcussional syndrome. [Archives Medical Review Journal 2013; 22(1.000: 96-109

  14. Cardiorenal syndromes

    Science.gov (United States)

    McCullough, Peter A; Ahmad, Aftab

    2011-01-01

    Cardiorenal syndromes (CRS) have been subclassified as five defined entities which represent clinical circumstances in which both the heart and the kidney are involved in a bidirectional injury and dysfunction via a final common pathway of cell-to-cell death and accelerated apoptosis mediated by oxidative stress. Types 1 and 2 involve acute and chronic cardiovascular disease (CVD) scenarios leading to acute kidney injury or accelerated chronic kidney disease. Types 2 and 3 describe acute and chronic kidney disease leading primarily to heart failure, although it is possible that acute coronary syndromes, stroke, and arrhythmias could be CVD outcomes in these forms of CRS. Finally, CRS type 5 describes a simultaneous insult to both heart and kidneys, such as sepsis, where both organs are injured simultaneously. Both blood and urine biomarkers are reviewed in this paper and offer a considerable opportunity to enhance the understanding of the pathophysiology and known epidemiology of these recently defined syndromes. PMID:21286212

  15. Dressler Syndrome

    Directory of Open Access Journals (Sweden)

    Erkan Ceylan

    2016-02-01

    Full Text Available Dressler Syndrome (DS is a febrile illness secondary to an inflammatory reaction involving the pleura and pericardium. It is more common in patients who have undergone surgery that involves opening the pericardium. However, DS has also been described following myocardial infarction and as an unusual complication after percutaneous procedures such as coronary stent implantation, after implantation of epicardial pacemaker leads and transvenous pacemaker leads, and following blunt trauma, stab wounds, and heart puncture. Pericardial effusions often accompany the syndrome and may develop into early or late postoperative cardiac tamponade and even recurrent cardiac tamponade. The syndrome is also characterized by pericardial or pleuritic pain, pleural effusions, pneumonitis, and abnormal ECG and radiography findings.

  16. 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.

  17. Larsen syndrome

    Directory of Open Access Journals (Sweden)

    Mohammed Mahbubul Islam

    2016-08-01

    Full Text Available Larsen syndrome is a rare inherited disorder characterized by congenital dislocation of multiple joints along with other anomalies of heart, face, hands and bones. Larsen syndrome was first described in 1950 by Larsen, Schottstaedt and Bost. In the present report, we describe a 10 year old girl who presented with mid facial hypoplasia with depressed nasal bridge, high arched palate, bilateral talipes equinovarus and high arched feet. On examination, she had short stature (HAZ -3.5 SD with hyperextension of knee joint, fixed flexion of elbow joint. Awareness of this condition and associated complications may help in management and follow up of these patients. 

  18. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ramachandran Sudarshan

    2012-08-01

    Full Text Available Turner syndrome is a genetic disorder that affects mostly females. Affected females have characteristic features such as short stature, premature ovarian failure, and several other features. Oral manifestations of this condition are not much discussed in the literature. But reported literature includes teeth, palate, periodontal and salivary changes. So the aim of this review is to illustrate the general manifestations, and especially the oral manifestations of Turner syndrome and evaluate their possible management. [Archives Medical Review Journal 2012; 21(4.000: 246-252

  19. Waardenburg syndrome

    Directory of Open Access Journals (Sweden)

    Tagra Sunita

    2006-01-01

    Full Text Available Waardenburg syndrome is a rare inherited and genetically heterogenous disorder of neural crest cell development. Four distinct subtypes showing marked interfamilial and intrafamilial variability have been described. We report a girl showing constellation of congenital hearing impairment with 110 dB and 105 dB loss in right and left ear respectively, hypoplastic blue iridis, white forelock, dystopia canthorum and broad nasal root. Other affected relatives of the family, with variable features of the syndrome, have been depicted in the pedigree.

  20. Olmsted syndrome

    Directory of Open Access Journals (Sweden)

    Kumar Pramod

    2008-01-01

    Full Text Available Olmsted syndrome is a rare disorder characterized by the combination of periorificial, keratotic plaques and bilateral palmoplantar keratoderma. New associated features are being reported. Olmsted syndrome is particularly rare in a female patient, and we report such a case in a six year-old Indian girl, who presented with keratoderma of her soles since birth and on her palms since the age of two years along with perioral and perinasal hyperkeratosis. She had sparse, light brown, thin hair. Although the psychomotor development of the child was normal until 18 months of age, the keratoderma plaques had restricted the child′s mobility after that stage.

  1. [Terson syndrome].

    Science.gov (United States)

    Nowosielska, Agnieszka; Czarnecki, Wojciech

    2003-01-01

    The syndrome of intra-vitreous bleeding in association with subarachnoid haemorrhage (SAH) was first describe by French ophthalmologist Albert Terson in 1900. In last 10 years only a few cases were recorded. Early recognition of TS is of high importance, since diminution of visual acuity even to functional blindness, can hamper the rehabilitative process. The treatment methods are various, based on clinical manifestation. The surgical procedure of choice is the pars plana vitrectomy (PPV). The importance of being aware of the syndrome is very crucial, both in order to provide the adequate nursing care and to be able to perform early vitrectomy, to restore the visual function.

  2. Morbihan syndrome

    Directory of Open Access Journals (Sweden)

    Stefano Veraldi

    2013-01-01

    Full Text Available We report a case of severe Morbihan syndrome (chronic erythematous edema of the upper portion of the face in a 60-year-old man. The syndrome was characterized clinically by erythematous edema involving the forehead, glabella, and both eyelids, because of which the patient was not able to open completely his eyes. Furthermore, erythema and telangiectasiae were visible on the nose and cheeks. Laboratory and instrumental examinations were within normal ranges or negative. Histopathological examination showed dermal edema, perivascular and periadnexal lympho-histiocytic infiltrate, and sebaceous gland hyperplasia. Oral isotretinoin was ineffective despite the relatively long duration of the therapy (26 weeks.

  3. Lemierre's syndrome.

    LENUS (Irish Health Repository)

    O'Dwyer, D N

    2012-02-01

    Lemierre\\'s syndrome is a rare disease that results in an oropharyngeal infection, which precipitates an internal jugular vein thrombosis and metastatic infection. Fusobacterium necrophorum is an anaerobic Gram-negative bacillus and has been identified as the causative agent. We describe the case of a young girl whose presentation and diagnosis were confounded by a history of valvular heart disease. Infection of heart valves can produce many of the signs and symptoms associated with Lemierre\\'s syndrome. We describe the diagnosis, investigation and optimal management of this rare disorder.

  4. Genetics Home Reference: Costello syndrome

    Science.gov (United States)

    ... older adults. The signs and symptoms of Costello syndrome overlap significantly with those of two other genetic conditions, cardiofaciocutaneous syndrome (CFC syndrome) and Noonan syndrome . In affected infants, ...

  5. Marfan syndrome masked by Down syndrome?

    NARCIS (Netherlands)

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

    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.

  6. Sotos syndrome

    OpenAIRE

    A Juneja; Sultan, A.

    2007-01-01

    Abstract Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features. The exact prevalence remains unknown but hundreds of cases have been reported. The diagnosis is usually suspected after birth because of excessive height and occipitofrontal circumference (OFC), advanced bone age, neonatal complications...

  7. Cowden syndrome.

    Science.gov (United States)

    Masmoudi, Abderrahmen; Chermi, Zied Mohamed; Marrekchi, Slaheddine; Raida, Ben Salah; Boudaya, Sonia; Mseddi, Madiha; Jalel, Meziou Taha; Turki, Hamida

    2011-03-26

    Cowden syndrome is a rare genodermatosis charactarized by presence of multiple hamartomas. The aim of the study was to specify the clinical, therapeutic and prognostic aspects of Cowden syndrome. Our study included 4 patients with Cowden syndrome, 2 males and 2 females between 14 and 46 years old. Clinical examination of the skin revealed facials papules (4 cases), acral keratosis (1 case), translucent keratotic papules (2 cases). Oral examination revealed papules (4 cases), papillomatosis (4 cases), gingival hypertrophy (4 cases) and scrotal tongue (2 cases). Investigations revealed thyroid lesions (2 cases), fibrocystic disease and lipoma of the breast in 1 case, "glycogenic acanthosis" (1 case), macrocephaly (2 cases), dysmorphic face (1 case) and lichen nitidus (1 case). Oral etretinate and acitretine were temporary efficient in 2 patients. Topical treatment with tretinoin lotion resulted in some improvement in cutaneous, but not mucosal lesions in one patient. No cancer was revealed. The pathognomonic mucocutaneous lesions were found in all patients. However, no degenerative lesions have been revealed. A new association of Cowden syndrome with lichen nitidus was found. Treatment with oral retinoids was efficient on cutaneous lesions.

  8. kartagener's syndrome

    African Journals Online (AJOL)

    GB

    upper and lower respiratory tract infections such as sinusitis, otitis media and bronchiectasis (6). Males are generally infertile because of immotile sperms (8). In rare cases, no structural cilliary abnormalities are detectable even though cilliary function is abnormal and the clinical syndrome is typical (9). Some males have ...

  9. Hunter's Syndrome

    African Journals Online (AJOL)

    CASE DETAILS: An eight year old patient with Hunter's syndrome identified five years after disease onset with severe cardiovascular complications exemplifies the challenges faced in resource-limited countries towards making diagnosis and treatment of rare conditions. Elevated urinary glycosaminoglycans levels or a ...

  10. Ortner syndrome

    African Journals Online (AJOL)

    2009-02-02

    Feb 2, 2009 ... Division of Otolaryngology, University of Cape Town. L J Zühlke, MB ChB, DCH, FCPaed, Cert in Paed Card. Department of Paediatric Cardiology, University of Cape Town and Red Cross Children's Hospital, Cape Town. 170 SAJCH DECEMBER 2008 VOL. 2 NO. 4. CASE REPORT. Ortner syndrome, or ...

  11. Kostmann Syndrome

    African Journals Online (AJOL)

    However, hematopoietic stem cell transplantation has shown promise in the treatment of non-responders. About 60-80% of. SCN cases are associated with constitutive mutations in one copy of the gene encoding neutrophil elastase ELA2. Myelodysplastic syndrome and acute myeloid leukemia. (MDS/AML) have been ...

  12. Bloom syndrome.

    Science.gov (United States)

    Arora, Harleen; Chacon, Anna H; Choudhary, Sonal; McLeod, Michael P; Meshkov, Lauren; Nouri, Keyvan; Izakovic, Jan

    2014-07-01

    Bloom Syndrome (BS, MIM #210900) is an autosomal recessive genetic disorder caused by a mutation in the BLM gene, which codes for the DNA repair enzyme RecQL3 helicase. Without proper DNA repair mechanisms, abnormal DNA exchange takes place between sister chromatids and results in genetic instability that may lead to cancer, especially lymphoma and acute myelogenous leukemia, lower and upper gastrointestinal tract neoplasias, cutaneous tumors, and neoplasias in the genitalia and urinary tract. BS patients are usually of Ashkenazi Jewish descent and exhibit narrow facial features, elongated limbs, and several dermatologic complications including photosensitivity, poikiloderma, and telangiectatic erythema. The most concerning manifestation of BS is multiple malignancies, which require frequent screenings and strict vigilance by the physician. Therefore, distinguishing between BS and other dermatologic syndromes of similar presentation such as Rothmund-Thomson Syndrome, Erythropoietic Protoporphyria, and Cockayne Syndrome is paramount to disease management and to prolonging life. BS can be diagnosed through a variety of DNA sequencing methods, and genetic testing is available for high-risk populations. This review consolidates several sources on BS sequelae and aims to suggest the importance of differentiating BS from other dermatologic conditions. This paper also elucidates the recently discovered BRAFT and FANCM protein complexes that link BS and Fanconi anemia. © 2014 The International Society of Dermatology.

  13. Gorlin syndrome

    African Journals Online (AJOL)

    these patients are hypersensitive to radiation and prone to develop multiple malignancies. Patients can ... maxillofacial surgeons, radiation oncologists and dermatologists, and it will be to the benefit of the patient with this syndrome for these specialists ... grandmother had been diagnosed with breast cancer, and there was.

  14. Hunter syndrome

    African Journals Online (AJOL)

    dermatan et sulfate d'heparin. L'accumulation de l'intra et extracellulaire de ce matieres provoquent un organe multisystémique anormal. Nous présentons un patient atteint du syndrome de chasseur impliquant 1a peau systeme cardiovasculaire, des yeux et systeme musculosquelettique. Nous avons aussi écrit le compte ...

  15. Pendred Syndrome

    Science.gov (United States)

    ... an audiologist , an endocrinologist , a clinical geneticist , a genetic counselor , an otolaryngologist , and a speech-language pathologist . To reduce the likelihood of hearing loss progression, children and adults with Pendred syndrome should avoid contact sports that might lead to head injury; wear head ...

  16. Goldenhar syndrome

    African Journals Online (AJOL)

    operational on the derivatives of the first and second bran- chial arches and clefts before the end of the organogenetic period (7'h or 8'h week of embryonic life)? ..... Marshman WE, Schalit G, Jones RB, Lee JP, Mathews TD and McCabe S: Congenital anomalies in patients with Duane retraction syndrome and their relatives.

  17. Hunter's Syndrome

    African Journals Online (AJOL)

    hanumantp

    the two enzymes required to break down the sugar chains into proteins and ... Clinical presentation of mucopolysaccharidosis type II (Hunter's syndrome). He was born of ... He is the only child in a separated family and is currently staying with ...

  18. Ortner syndrome

    African Journals Online (AJOL)

    2009-02-02

    Feb 2, 2009 ... A 3-month-old baby girl was brought to the Ear, Nose and ... had died of cardiac failure at a very young age. ... on adduction, allowing for her good voice. Further follow- up and a cardiac ultrasound scan showed improved cardiac function. Discussion. Ortner first described this syndrome in 1897 after seeing ...

  19. Marfan Syndrome

    Science.gov (United States)

    ... lives. continue How Do Kids Get It? Marfan syndrome affects 1 in every 5,000 people all over the world. That makes it pretty rare. It's a genetic (say: juh-NEH-tik) disease, which means it is caused by a problem with a ...

  20. Postthrombotic Syndrome

    Science.gov (United States)

    ... ulcer. 2,12 Additional Resources Here are some Internet links that will give you more information about ... CrossRef PubMed ↵ Kahn SR, Ginsberg JS. Relationship between deep venous thrombosis and the postthrombotic syndrome. Arch Intern ...

  1. Hunter's Syndrome

    African Journals Online (AJOL)

    GB

    disorder due to deficiency of the lysosomal enzyme iduronate-2-sulfatase with patients rarely living till adulthood. Failure to identify ... case report. CASE DETAILS: An eight year old patient with Hunter's syndrome identified five years after disease onset with severe .... mitral valve prolapse with severe regurgitation, moderate ...

  2. Dressler's Syndrome

    Science.gov (United States)

    ... Medicine: Clinical Essentials. 2nd ed. Philadelphia, Pa.: Saunders Elsevier; 2013. http://www.clinicalkey.com. Accessed May 27, 2015. Imazio M, et al. Postpericardiotomy syndrome: A proposal for diagnostic criteria. Journal of Cardiovascular Medicine. 2013:14:351. Alraies MC, ...

  3. Eisenmengers syndrom

    DEFF Research Database (Denmark)

    Jensen, Annette Schophuus; Iversen, Kasper; Vejlstrup, Niels G

    2009-01-01

    -to-left shunt and cyanosis. Patients with Eisenmenger syndrome suffer a high risk of complications in connection with acute medical conditions, extra-cardiac surgery and pregnancy. This article describes the precautions that should be taken to reduce morbidity and mortality in these patients. Udgivelsesdato...

  4. Noonan syndrome.

    NARCIS (Netherlands)

    Burgt, I. van der

    2007-01-01

    Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set

  5. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    Debi Basanti

    2005-01-01

    Full Text Available Proteus syndrome is a variable and complex disorder characterized by multifocal overgrowths affecting any tissue or structure of the body. We present a girl aged 3 years and 8 months with an epidermal nevus, port-wine stain, macrodactyly with gigantism of the feet, lymphohemagiomas and multiple lipomas.

  6. Nodding Syndrome

    Centers for Disease Control (CDC) Podcasts

    2013-12-19

    Dr. Scott Dowell, a CDC director, discusses the rare illness, nodding syndrome, in children in Africa.  Created: 12/19/2013 by National Center for Emerging and Zoonotic Infectious Diseases (NCEZID).   Date Released: 1/27/2014.

  7. Kosenow syndrome

    African Journals Online (AJOL)

    spina bifida was also noted. MRI was performed and showed absence of osseous or cartilaginous tissue in the normal location of the ilium. Instead there was a soft-tissue structure, hypo-intense in all sequences, suggestive of fibrous tissue. Imaging features of a rare case of scapuloiliac dysostosis (Kosenow syndrome) in ...

  8. Rett Syndrome.

    Science.gov (United States)

    Culbert, Linda A.

    This pamphlet reviews the historical process involved in initially recognizing Rett Syndrome as a specific disorder in girls. Its etiology is unknown, but studies have considered factors as hyperammonemia, a two-step mutation, a fragile X chromosome, metabolic disorder, environmental causation, dopamine deficiency, and an inactive X chromosome.…

  9. Waardenburg syndrome

    Science.gov (United States)

    Once hearing problems are corrected, most people with this syndrome should be able to lead a normal life. Those with ... require part of large bowel to be removed Hearing loss Self-esteem problems, or other problems related to appearance Slight decreased ...

  10. Klinefelter Syndrome

    Directory of Open Access Journals (Sweden)

    Hande Peynirci

    2013-09-01

    Full Text Available Klinefelter syndrome is the most common sex chromosome disorder in males. Variation in clinical presentation and insufficient awareness of this syndrome among clinicians lead to fifty percent of patients remain undetected. Typical clinical features of Klinefelter syndrome are various degrees of hypogonadal symptoms, atrophic testes and gynaecomastia. However, these typical clinical symptoms may not be present in all patients. Even if serum testosterone levels are not markedly low, elevated serum follicle-stimulating hormone is a considerable laboratory finding. Definitive diagnosis is made by karyotype analysis of peripheral blood lymphocytes. It must be kept in mind that this analysis may be normal in rare conditions. Early recognition of patients during puberty and handling them as soon as possible is important. Testosterone replacement therapy results in increased muscle mass, bone mineral density and libido. The patient’s mood and self-esteem improve significantly. In general, patients with Klinefelter syndrome are accepted as infertile, however, assisted reproductive techniques may provide fertilization. Turk Jem 2013; 17: 63-7

  11. Compartment syndromes

    Directory of Open Access Journals (Sweden)

    Aly Saber

    2014-01-01

    Full Text Available Body compartments bound by fascia and limited by bony backgrounds are found in the extremities, buttocks, abdomen and thoracic cavity; conditions that cause intracompartmental swelling and hypertension can lead to ischemia and limb loss. Although compartment syndromes are described in all body regions from head to toe, the etiology, diagnosis, treatment, and prevention are best characterized for three key body regions: the first is extremity, the second is abdominal, and the third is thoracic compartment syndromes. Thoracic compartment syndrome usually occurs as a result of pathological accumulation of air, fluid or blood in the mediastinum and has traditionally been described in trauma. As the intracranial contents are confined within a rigid bony cage, any increase in volume within this compartment as a result of brain oedema or an expanding traumatic intracranial haematoma, leads to a reciprocal decrease in the volume of cerebrospinal fluid and intracranial venous blood volume. Limb compartment syndromes may present either in acute or chronic clinical forms. Intra-abdominal pressure can be measured by direct or indirect methods. While the direct methods are quite accurate, they are impractical and not feasible for routine practice. Indirect measurement is done through inferior vena cava, gastric, rectal and urinary bladder. Indirect measurement through urinary bladder is the simplest and is considered the method of choice for intra-abdominal pressure measurement. The management of patients with intra-abdominal hypertension is based on four important principles: the first is related to the specific procedures aiming at lowering intra-abdominal pressure and the consequences of intra-abdominal hypertension and abdominal compartment syndrome; the second is for general support and medical management of the critically ill patient; while the third is surgical decompression and the fourth is optimization after surgical decompression.

  12. Pendred syndrome.

    Science.gov (United States)

    Wémeau, Jean-Louis; Kopp, Peter

    2017-03-01

    Pendred syndrome is an autosomal recessive disorder that is classically defined by the combination of sensorineural deafness/hearing impairment, goiter, and an abnormal organification of iodide with or without hypothyroidism. The hallmark of the syndrome is the impaired hearing, which is associated with inner ear malformations such as an enlarged vestibular aqueduct (EVA). The thyroid phenotype is variable and may be modified by the nutritional iodine intake. Pendred syndrome is caused by biallelic mutations in the SLC26A4/PDS gene, which encodes the multifunctional anion exchanger pendrin. Pendrin has affinity for chloride, iodide, and bicarbonate, among other anions. In the inner ear, pendrin functions as a chloride/bicarbonate exchanger that is essential for maintaining the composition and the potential of the endolymph. In the thyroid, pendrin is expressed at the apical membrane of thyroid cells facing the follicular lumen. Functional studies have demonstrated that pendrin can mediate iodide efflux in heterologous cells. This, together with the thyroid phenotype observed in humans (goiter, impaired iodine organification) suggests that pendrin could be involved in iodide efflux into the lumen, one of the steps required for thyroid hormone synthesis. Iodide efflux can, however, also occur in the absence of pendrin suggesting that other exchangers or channels are involved. It has been suggested that Anoctamin 1 (ANO1/TMEM16A), a calcium-activated anion channel, which is also expressed at the apical membrane of thyrocytes, could participate in mediating apical efflux. In the kidney, pendrin is involved in bicarbonate secretion and chloride reabsorption. While there is no renal phenotype under basal conditions, severe metabolic alkalosis has been reported in Pendred syndrome patients exposed to an increased alkali load. This review provides an overview on the clinical spectrum of Pendred syndrome, the functional data on pendrin with a focus on its potential role in

  13. ADHD & Down Syndrome

    Science.gov (United States)

    ... Home » Resources » Health Care » Associated Conditions » ADHD & Down Syndrome ADHD & Down Syndrome Attention deficit hyperactivity disorder, or ADHD, is ... Helpline » Follow us Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ...

  14. The Source for Syndromes.

    Science.gov (United States)

    Richard, Gail J.; Hoge, Debra Reichert

    Designed for practicing speech-language pathologists, this book discusses different syndrome disabilities, pertinent speech-language characteristics, and goals and strategies to begin intervention efforts at a preschool level. Chapters address: (1) Angelman syndrome; (2) Asperger syndrome; (3) Down syndrome; (4) fetal alcohol syndrome; (5) fetal…

  15. Efecto de la localización del electrodo ventricular derecho (tracto de salida vs. ápex sobre la sincronía ventricular mecánica, en pacientes sometidos a terapia de implante de marcapaso cardiaco Effect of right ventricular electrode location (outflow tract vs. apex on mechanical ventricular synchrony in patients that underwent pacemaker implant therapy

    Directory of Open Access Journals (Sweden)

    Oscar S Rincón

    2008-12-01

    Full Text Available Objetivo: evaluar a profundidad el efecto de la estimulación ventricular desde el tracto de salida del ventrículo derecho y el ápex, sobre la sincronía ventricular mecánica. Materiales y métodos: estudio analítico de cohorte, en el que se realizó ecocardiograma transtorácico pre y post implante de marcapaso a 20 pacientes (diez por cada grupo con indicación de marcapaso definitivo, con implante del electrodo en el tracto de salida del ventrículo derecho y el ápex, sin cardiopatía estructural, fracción de eyección > 50%; QRS y conducción aurículo-ventricular normal, con el fin de evaluar la asincronía ventricular mecánica (modo M y Doppler tisular y los parámetros de implante y programación del dispositivo. Análisis estadístico: los resultados se presentan como promedios, desviación estándar o porcentajes. Las variables continuas se compararon utilizando prueba Chi cuadrado y ANOVA. Se consideró como estadísticamente significativa una p Objective: to assess in depth the effect of ventricular stimulation from the right ventricular outflow tract and the apex on mechanical ventricular synchrony. Materials and Methods: cohort analytical study. 20 patients with indication of definitive pacemaker indication underwent transthoracic echocardiogram before and after pacemaker implant with electrode implantation in the right ventricular outflow tract and in the apex (10 patients in each group. There was no structural cardiopathy, ejection fraction was > 50%, QRS and AV conduction were normal. Mechanical ventricular asynchrony (M mode and tissue doppler and implant and device parameters were evaluated. Statistical Analysis: results are given as mean values, standard deviation or percentages. Continuous variables were compared using Chi-square test and ANOVA. A p <0.05 value was considered statistically significant. Results: in five patients (25% a pre-implant ventricular asynchrony was found; in seven (70% ventricular asynchrony

  16. Dravet syndrome

    Directory of Open Access Journals (Sweden)

    Incorpora Gemma

    2009-09-01

    Full Text Available Abstract "Dravet syndrome" (DS previously named severe myoclonic epilepsy of infancy (SMEI, or epilepsy with polymorphic seizures, is a rare disorder characterized by an early, severe, generalized, epileptic encephalopathy. DS is characterized by febrile and afebrile seizures beginning in the 1st year of life followed by different types of seizures (either focal or generalized, which are typically resistant to antiepileptic drugs. A developmental delay from the 2nd to 3rd year of life becomes evident, together with motor disturbances and personality disorders. Beside the classic syndrome, there are milder cases which have been called severe myoclonic epilepsy borderline (SMEB. DS is caused by a mutation in the neuronal sodium channel gene, SCN1A , that is also mutated in generalized epilepsy with FS+ (GEFS+.

  17. Paraneoplastic syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Weller, R.E.

    1994-03-01

    Paraneoplastic syndromes (PNS) comprise a diverse group of disorders that are associated with cancer but unrelated to the size, location, metastases, or physiologic activities of the mature tissue of origin. They are remote effects of tumors that may appear as signs, symptoms, or syndromes which can mimic other disease conditions encountered in veterinary medicine. Recognition of PNS is valuable for several reasons: the observed abnormalities may represent tumor cell markers and facilitate early diagnosis of the tumor; they may allow assessment of premalignant states; they may aid in the search metastases; they may help quantify and monitor response to therapy; and, they may provide insight into the study of malignant transformation and oncogene expression. This review will concentrate on the pathophysiology, diagnosis, and treatment of some of the common PNS encountered in veterinary medicine.

  18. Barth Syndrome

    DEFF Research Database (Denmark)

    Saric, Ana; Andreau, Karine; Armand, Anne-Sophie

    2016-01-01

    Mutations in the gene encoding the enzyme tafazzin, TAZ, cause Barth syndrome (BTHS). Individuals with this X-linked multisystem disorder present cardiomyopathy (CM) (often dilated), skeletal muscle weakness, neutropenia, growth retardation, and 3-methylglutaconic aciduria. Biopsies of the heart......, liver and skeletal muscle of patients have revealed mitochondrial malformations and dysfunctions. It is the purpose of this review to summarize recent results of studies on various animal or cell models of Barth syndrome, which have characterized biochemically the strong cellular defects associated...... strong insights into the link between mitochondrial dysfunction and the production of reactive oxygen species (ROS). An important tool has been the generation of BTHS-specific induced pluripotent stem cells (iPSCs) from BTHS patients. In a complementary approach, disease-specific mutations have been...

  19. Apert syndrome

    Directory of Open Access Journals (Sweden)

    Premalatha

    2010-01-01

    Full Text Available Apert syndrome (acrocephalosyndactyly is a rare developmental malformation characterized by craniosynostosis, mid-face hypoplasia, symmetrical syndactyly of hands and feet. The prodromal characteristics for the typical cranio-facial appearance are early craniosynostosis of the coronal suture, cranial base and agenesis of the sagittal suture. The purpose of this paper is to report a case of Apert syndrome with emphasis on craniofacial and oral features in an eighteen-month-old male child. The patient presented with several craniofacial deformities, including brachycephaly, midface hypoplasia, flat face, hypertelorism, ocular proptosis, downslanting palpebral fissures. Syndactylies with osseous fusion of the hands and feet were also observed. Intraoral findings included delayed eruption of teeth, high arched palate with pseudo cleft in the posterior one third.

  20. Griscelli syndrome

    Directory of Open Access Journals (Sweden)

    Kumar T

    2006-01-01

    Full Text Available Partial albinism with immunodeficiency is a rare and fatal immunologic disorder characterized by pigmentary dilution and variable cellular immunodeficiency. It was initially described in 1978. Primary abnormalities included silvery grayish sheen to the hair, large pigment agglomerations in hair shafts and an abundance of mature melanosomes in melanocytes, with reduced pigmentation of adjacent keratinocytes. We describe a child with Griscelli syndrome who presented with hepatitis, pancytopenia and silvery hair. The diagnosis was confirmed by microscopic skin and hair examination.

  1. [Fibromyalgia syndrome].

    Science.gov (United States)

    Naranjo Hernández, A; Rodríguez Lozano, C; Ojeda Bruno, S

    1992-02-01

    The Fibromialgia Syndrome (FS) is a common clinical entity which may produce symtoms and signs related to multiple fields of Medicine. Typical clinical characteristics of FS include extensive pain, presence of sensitive points during exploration, morning stiffness, asthenia and non-refresing sleep. Frequently, associated rheumatologic diseases are observed, as rheumatoid arthritis, osteoarthrosis and vertebral disorders. In FS, complementary tests are usually normal. The most widely accepted hypothesis suggests that this is a disorder affecting modulation of pain sensitivity.

  2. Asperger Syndrome

    OpenAIRE

    Friedlander, Robin

    2002-01-01

    Abstract Asperger syndrome (AS) is a chronic neurodevelopmental disorder of social interaction, communication, and a restricted range of behaviors or interests. Although not generally associated with intellectual disability, the severe social disability and, in many cases, associated mental health and other medical problems, result in disability throughout life. The diagnosis is often delayed, sometimes into adulthood, which is unfortunate because there are now a range...

  3. [Cockayne syndrome].

    Science.gov (United States)

    Wang, Xue-Mei; Cui, Yun-Pu; Liu, Yun-Feng; Wei, Ling; Liu, Hui; Wang, Xin-Li; Zheng, Zhuo-Zhao

    2011-02-01

    Cockayne syndrome is a rare autosomal recessive disease. This paper reports a case of Cockayne syndrome confirmed by gene analysis. The baby (male, 7 years old) was referred to Peking University Third Hospital with recurrent desquamation, pigmentation and growth and development failure for 6 years, and recurrent dental caries and tooth loss for 2 years. Physical examination showed very low body weight, body length and head circumference, yellow hair, a lot of fawn spots on the face, skin dry and less elastic, and subcutaneous lipopenia. He had an unusual appearance with sunken eyes, sharp nose, sharp mandible, big auricle and dental caries and tooth loss. Crura spasticity and ataxia with excessive tendon reflexion, and ankle movement limitation while bending back were observed. He had slured speech. The level of serum insulin like growth factor I was low, and the results of blood and urinary amino acid analysis suggested malnutrition. The results of blood growth hormone, thyroxin, parathyroxin, liver function, renal function, lipoprotein profile and blood glucose and electrolytes were all within normal limit. An electronic hearing examination showed moderate neural hearing loss. The sonogram of eyes revealed small eye axis and vitreous body opacity of right side. MRI of brain revealed bilateral calcification of basal ganglia and generalized cerebral and cerebellar atrophy, and brainstem and callus were also atrophic. Genetic analysis confirmed with CSA gene mutation. So the boy was definitely diagnosed with Cockayne syndrome. He was discharged because of no effective treatment.

  4. SUSAC SYNDROME.

    Science.gov (United States)

    Patel, Kevin H; Haug, Sara J; Imes, Richard K; Cunningham, Emmett T; McDonald, H Richard

    2015-01-01

    To describe an atypical presentation of Susac syndrome. Observational case report. A 44-year-old man with no significant medical history presented with inferonasal visual field loss in his left eye of several months of duration. He was found to have bilateral migratory arteritis with focal areas of arteriolar occlusion in both eyes and peripheral ischemia superotemporally in his left eye. An extensive hematologic workup was negative for autoimmune disease or coagulopathy. Magnetic resonance imaging with contrast of his brain revealed a hyperintense lesion in the splenium of the corpus callosum. Auditory testing was significant for nonspecific high-frequency hearing loss in the right ear. Given the full clinical picture, a diagnosis of Susac syndrome was made. Susac syndrome is a multisystemic, immune-mediated occlusive endotheliopathy characterized by the clinical triad of encephalopathy, branch retinal artery occlusions, and hearing loss. However, patients may present with varying degrees of this triad; thus, there should be a high index of suspicion in patients presenting with multiple artery occlusions or multifocal arteritis. (C) 2015 by Ophthalmic Communications Society, Inc.

  5. CREST Syndrome

    Directory of Open Access Journals (Sweden)

    Tuğçe Köksüz

    2014-06-01

    Full Text Available We report a case of CREST syndrome (calsinosis cutis, Raynaud’s phenomenon, oesophageal dysmotility, sclerodactyly and telangiectasia with all of the five major symptoms. A 46-year-old woman was admitted to our clinic with the complaint of erythema, rigidity and pain on the plantar surface of the feet. She had had Raynaud’s phenomenon for 20 years and oesophageal reflux for five years. Her face had become masklike and there was prominent telangiectasies on her face and hands. Sclerosis were confined to the fingers (sclerodactyly. Direct X-ray graphy demonstrated calcinosis cutis on the left hand and suprapatellar region. She was treated with nifedipine 30 mg/day, acetylsalicylic acid 100 mg/day for Raynaud’s phenomenon and famotidine 40 mg/day, metoclopramide HCL 30 mg/day for oesophageal dysmotility. Her complaints were partially relieved after the treatment. This case had all of the five major symptoms of CREST syndrome, and we aimed to emphasize the major symptoms and complications of CREST syndrome. (Turk J Dermatol 2012; 6: 48-50

  6. CREST Syndrome

    Directory of Open Access Journals (Sweden)

    Tuğçe Köksüz

    2012-06-01

    Full Text Available We report a case of CREST syndrome (calsinosis cutis, Raynaud’s phenomenon, oesophageal dysmotility, sclerodactyly and telangiectasia with all of the five major symptoms. A 46-year-old woman was admitted to our clinic with the complaint of erythema, rigidity and pain on the plantar surface of the feet. She had had Raynaud’s phenomenon for 20 years and oesophageal reflux for five years. Her face had become masklike and there was prominent telangiectasies on her face and hands. Sclerosis were confined to the fingers (sclerodactyly. Direct X-ray graphy demonstrated calcinosis cutis on the left hand and suprapatellar region. She was treated with nifedipine 30 mg/day, acetylsalicylic acid 100 mg/day for Raynaud’s phenomenon and famotidine 40 mg/day, metoclopramide HCL 30 mg/day for oesophageal dysmotility. Her complaints were partially relieved after the treatment. This case had all of the five major symptoms of CREST syndrome, and we aimed to emphasize the major symptoms and complications of CREST syndrome.

  7. Crush syndrome

    Directory of Open Access Journals (Sweden)

    Emily Lovallo

    2012-09-01

    Full Text Available The first detailed cases of crush syndrome were described in 1941 in London after victims trapped beneath bombed buildings presented with swollen limbs, hypovolemic shock, dark urine, renal failure, and ultimately perished. The majority of the data and studies on this topic still draw from large databases of earthquake victims. However, in Africa, a continent with little seismic activity, the majority of crush syndrome cases are instead victims of severe beatings rather than earthquake casualties, and clinical suspicion by emergency personnel must be high in this patient group presenting with oliguria or pigmenturia. Damaged skeletal muscle fibres and cell membranes lead to an inflammatory cascade resulting in fluid sequestration in the injured extremity, hypotension, hyperkalemia and hypocalcemia and their complications, and renal injury from multiple sources. Elevations in the serum creatinine, creatine kinase (CK, and potassium levels are frequent findings in these patients, and can help guide critical steps in management. Fluid resuscitation should begin prior to extrication of trapped victims or as early as possible, as this basic intervention has been shown to in large part prevent progression of renal injury to requiring haemodialysis. Alkalinization of the urine and use of mannitol for forced diuresis are recommended therapies under specific circumstances and are supported by studies done in animal models, but have not been shown to change clinical outcomes in human crush victims. In the past 70 years the crush syndrome and its management have been studied more thoroughly, however clinical practice guidelines continue to evolve.

  8. Lambert-Eaton syndrome

    Science.gov (United States)

    Myasthenic syndrome; Eaton-Lambert syndrome; Lambert-Eaton myasthenic syndrome; LEMS; LES ... get up from a sitting or lying position Problems talking Problems chewing or swallowing, which may include ...

  9. 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: ... uhs ), thyroid, or thymus How Tumors Can Cause Cushing Syndrome Normally, the pituitary gland in the brain ...

  10. Tourette Syndrome (For Parents)

    Science.gov (United States)

    ... to the Gynecologist? Blood Test: Thyroid Peroxidase Antibodies Tourette Syndrome KidsHealth > For Parents > Tourette Syndrome Print A ... have their tics continue into adulthood. Dealing With Tourette Syndrome Many people don't understand what Tourette ...

  11. Exogenous Cushing syndrome

    Science.gov (United States)

    Cushing syndrome - corticosteroid induced; Corticosteroid-induced Cushing syndrome; Iatrogenic Cushing syndrome ... reduce the risk of fractures if you develop osteoporosis. Taking medicine to decrease the amount of glucocorticoid ...

  12. Miller Fisher Syndrome

    Science.gov (United States)

    ... de Guillain-Barré Guillain-Barré Syndrome Information Page Guillain-Barre Syndrome information sheet compiled by NINDS. See all related publications Order NINDS Publications Definition Miller Fisher syndrome is a rare, acquired nerve ...

  13. 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- ...

  14. Neonatal respiratory distress syndrome

    Science.gov (United States)

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

  15. Central Cord Syndrome

    Science.gov (United States)

    ... You are here Home » Disorders » All Disorders Central Cord Syndrome Information Page Central Cord Syndrome Information Page What research is being done? Our understanding of central cord syndrome has increased greatly in recent decades as ...

  16. What Causes Rett Syndrome?

    Science.gov (United States)

    ... Share Facebook Twitter Pinterest Email Print What causes Rett syndrome? Most cases of Rett syndrome are caused by ... as bad for development as too little. Is Rett syndrome passed from one generation to the next? In ...

  17. National Down Syndrome Society

    Science.gov (United States)

    ... leading human rights organization for all individuals with Down syndrome. Your browser does not support the video tag. ... leading human rights organization for all individuals with Down syndrome. Help us fix the law and end #LawSyndrome. ...

  18. Cushing Syndrome: Other FAQs

    Science.gov (United States)

    ... Other FAQs Share Facebook Twitter Pinterest Email Print Cushing Syndrome: Other FAQs Are there disorders or conditions associated with Cushing syndrome? Very rarely, a surgeon cannot remove all ...

  19. Neuroleptic Malignant Syndrome

    Science.gov (United States)

    ... Skeletal Syndrome (COFS) Information Page Charcot-Marie-Tooth Disease Information Page Chorea Information Page Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) Information Page Coffin Lowry Syndrome Information ...

  20. Learning about WAGR Syndrome

    Science.gov (United States)

    ... especially during infancy and childhood. Seizure disorder (epilepsy). Inflammation of the pancreas (pancreatitis). Top of page How is WAGR syndrome diagnosed? Symptoms that suggest WAGR syndrome, like aniridia, ...

  1. Marfan syndrome

    Directory of Open Access Journals (Sweden)

    T Sivasankari

    2017-01-01

    Full Text Available Marfan syndrome (MFS is the autosomal dominant-inherited multisystem connective-tissue disorder, with a reported incidence of 1 in 10,000 individuals and equal distribution in both genders. The main clinical manifestation of this disorder consists of an exaggerated length of the upper and lower limbs, hyperlaxity, scoliosis, alterations in the cardiovascular and pulmonary systems, and atypical bone overgrowth. Orofacial manifestations such as high-arched palate, hypodontia, long narrow teeth, bifid uvula, mandibular prognathism, and temporomandibular disorders are also common. Early diagnosis of MFS is essential to prevent the cardiovascular complications and treatment of orofacial manifestations, thus to increase the quality of life of the patient.

  2. HELLP syndrome

    Directory of Open Access Journals (Sweden)

    Dilek Acar

    2014-08-01

    Suggested treatment modality consists, stabilization of blood pressure and magnesium sulfate infusion. Then evaluation of fetal status and planning delivery method and time if maternal status remains unstable. If prognosis seems favorable without urgent delivery and fetus can benefit from it, a course of betamethasone can be given to fetuses between 24 and 34 weeks of gestational age. The only and definite treatment of HELLP syndrome is delivering the baby. Suggested benefits of steroid therapy and other experimental treatments are still to be proven effective by large randomized controlled trials. [Archives Medical Review Journal 2014; 23(4.000: 735-760

  3. Trichorhinophalangeal syndrome

    Energy Technology Data Exchange (ETDEWEB)

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

    1982-11-01

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

  4. [Dependency syndrome].

    Science.gov (United States)

    Vuorisalo, Sailaritta

    2013-01-01

    The most common causes of lower limb edema include cardiac insufficiency, venous insufficiency, insufficiency of lymph flow, and side effects of drugs. It can also be due to dependency syndrome, in which the edema and skin changes can only be explained by a passive calf muscle pump and the resulting venous hypertension. Underlying the drop foot is always immobilization for one reason or other. The patient must be given an explanation about the situation, activated to move if possible, and in any case guided to the use of support stockings and postural therapy.

  5. Chilaiditi syndrome.

    Science.gov (United States)

    Walsh, S D; Cruikshank, J G

    1977-02-01

    The features of the Chilaiditi Syndrome are described, together with the historial background, and a brief review of the literature on the condition is given. The prevalence in our geriatric population was found to be 1% and the 13 cases seen over 22 months are reported briefly. The prevalence increases with age and may be related to the consumption of drugs by the elderly; although in the majority it is asymptomatic, it may, particularly when associated with gastrointestinal symptoms, lead to unnecessary laparotomy. In the geriatric patient, interposition of the bowel should be considered in the differential diagnosis of air under the right hemidiaphragm.

  6. Olmsted Syndrome

    Directory of Open Access Journals (Sweden)

    Sirka C

    1999-01-01

    Full Text Available A 20-year-old Sikh man had palmoplantar keratoderma, flexion deformity of digits, universal alopecia, keratotic plaques at the angles of mouth, gluteal cleft, knees and dorsal aspects of the metacarpophalangeal joints of the hand; features of Olmsted syndrome. He had normal nails, teeth, oral mucosa and normal joint movements. Treatment with acitretin, 25mg/day for three and a half months, followed by 25mg once daily alternating with 50mg once daily for 3 months resulted in significant improvement.

  7. Jacobsen syndrome.

    Science.gov (United States)

    Mattina, Teresa; Perrotta, Concetta Simona; Grossfeld, Paul

    2009-03-07

    Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears). Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from approximately 7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. In a minority of cases the breakpoint is at the FRA11B fragile site. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia) and confirmed by cytogenetics analysis. Differential diagnoses include Turner and Noonan syndromes, and acquired thrombocytopenia due to sepsis. Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Management is multi-disciplinary and requires evaluation by general pediatrician, pediatric cardiologist, neurologist, ophthalmologist. Auditory tests, blood tests, endocrine and immunological assessment and follow-up should be offered to all patients. Cardiac malformations can be very severe

  8. Jacobsen syndrome

    Directory of Open Access Journals (Sweden)

    Grossfeld Paul

    2009-03-01

    Full Text Available Abstract Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears. Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from ~7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. In a minority of cases the breakpoint is at the FRA11B fragile site. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia and confirmed by cytogenetics analysis. Differential diagnoses include Turner and Noonan syndromes, and acquired thrombocytopenia due to sepsis. Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Management is multi-disciplinary and requires evaluation by general pediatrician, pediatric cardiologist, neurologist, ophthalmologist. Auditory tests, blood tests, endocrine and immunological assessment and follow-up should be offered to all patients. Cardiac malformations can be

  9. Wells′ syndrome

    Directory of Open Access Journals (Sweden)

    Chaudhary Ajay

    1997-01-01

    Full Text Available Eosinophilic cellulitis/Wells′ syndrome is a rare dermatosis with erythematous, urticarial plaques that become more indurated and eventually have grey blue discoloration. The histopathology is distinctive, with a diffuse infiltrate composed predominantly of eosinophils but admixed with lymphocytes, histicytes and occasionally multinucleated histiocytes. There is dermal edema with so called "flame figures" that is composed of collagen focally enveloped with aggregates of eosinophilic granules. These collagen fibres may be surrounded by palisading histiocyes. The course is variable with waxing and waning and eventual spontaneous resolution.

  10. Cardiorenal syndrome.

    Science.gov (United States)

    Ronco, Claudio; Di Lullo, Luca

    2014-04-01

    Cardiorenal syndrome (CRS) includes a broad spectrum of diseases within which both the heart and kidneys are involved, acutely or chronically. An effective classification of CRS in 2008 essentially divides CRS in two main groups, cardiorenal and renocardiac CRS, based on primum movens of disease (cardiac or renal); both cardiorenal and renocardiac CRS are then divided into acute and chronic, according to onset of disease. The fifth type of CRS integrates all cardiorenal involvement induced by systemic disease. This article addresses the pathophysiology, diagnosis, treatment, and outcomes of the 5 distinct types of CRS. Copyright © 2014 Elsevier Inc. All rights reserved.

  11. Gene expression in peripheral blood mononuclear cells from patients with chronic fatigue syndrome.

    Science.gov (United States)

    Kaushik, N; Fear, D; Richards, S C M; McDermott, C R; Nuwaysir, E F; Kellam, P; Harrison, T J; Wilkinson, R J; Tyrrell, D A J; Holgate, S T; Kerr, J R

    2005-08-01

    Chronic fatigue syndrome (CFS) is a multisystem disease, the pathogenesis of which remains undetermined. To test the hypothesis that there are reproducible abnormalities of gene expression in patients with CFS compared with normal healthy persons. To gain further insight into the pathogenesis of this disease, gene expression was analysed in peripheral blood mononuclear cells from 25 patients with CFS diagnosed according to the Centers for Disease Control criteria and 25 normal blood donors matched for age, sex, and geographical location, using a single colour microarray representing 9522 human genes. After normalisation, average difference values for each gene were compared between test and control groups using a cutoff fold difference of expression > or = 1.5 and a p value of 0.001. Genes showing differential expression were further analysed using Taqman real time polymerase chain reaction (PCR) in fresh samples. Analysis of microarray data revealed differential expression of 35 genes. Real time PCR confirmed differential expression in the same direction as array results for 16 of these genes, 15 of which were upregulated (ABCD4, PRKCL1, MRPL23, CD2BP2, GSN, NTE, POLR2G, PEX16, EIF2B4, EIF4G1, ANAPC11, PDCD2, KHSRP, BRMS1, and GABARAPL1) and one of which was downregulated (IL-10RA). This profile suggests T cell activation and perturbation of neuronal and mitochondrial function. Upregulation of neuropathy target esterase and eukaryotic translation initiation factor 4G1 may suggest links with organophosphate exposure and virus infection, respectively. These results suggest that patients with CFS have reproducible alterations in gene regulation.

  12. KBG syndrome

    Directory of Open Access Journals (Sweden)

    Brancati Francesco

    2006-12-01

    Full Text Available Abstract KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral anomalies and developmental delay. To date, KBG syndrome has been reported in 45 patients. Clinical features observed in more than half of patients that may support the diagnosis are short stature, electroencephalogram (EEG anomalies (with or without seizures and abnormal hair implantation. Cutaneous syndactyly, webbed short neck, cryptorchidism, hearing loss, palatal defects, strabismus and congenital heart defects are less common findings. Autosomal dominant transmission has been observed in some families, and it is predominantly the mother, often showing a milder clinical picture, that transmits the disease. The diagnosis is currently based solely on clinical findings as the aetiology is unknown. The final diagnosis is generally achieved after the eruption of upper permanent central incisors at 7–8 years of age when the management of possible congenital anomalies should have been already planned. A full developmental assessment should be done at diagnosis and, if delays are noted, an infant stimulation program should be initiated. Subsequent management and follow-up should include an EEG, complete orthodontic evaluation, skeletal investigation with particular regard to spine curvatures and limb asymmetry, hearing testing and ophthalmologic assessment.

  13. Cardiorenal syndrome

    Directory of Open Access Journals (Sweden)

    Sabry Omar

    2013-01-01

    Full Text Available Cardiovascular disease is the leading cause of death in patients with chronic kidney disease.  Heart failure may lead to acute kidney injury and vice versa. Chronic kidney disease may affect the clinical outcomes in patients with cardiovascular disorders. Renal impairment with any degree of albuminuria has been increasingly recognized as an independent risk factor for cardiovascular events and heart failure hospitalizations, while chronic heart failure may cause chronic kidney disease. The bidirectional nature of these disorders contributes to the complexity and the composite definitions of cardiorenal syndromes. However, the most important clinical trials in heart failure tend to exclude patients with significant renal dysfunction. The mechanisms whereby renal insufficiency worsens the outcome in heart failure are not known, and several pathways could contribute to the ‘‘vicious heart/kidney circle.’’ Traditionally, renal impairment has been attributed to the renal hypoperfusion due to reduced cardiac output and decreased systemic pressure. The hypovolemia leads to sympathetic activity, increased renin-angiotensin aldosterone pathway, and arginine-vasopressin release. These mechanisms cause fluid and sodium retention, peripheral vasoconstriction, and volume overload. Therapy to improve renal dysfunction, reduce neurohormonal activation and ameliorate renal blood flow could lead to a reduction in mortality and hospitalization in patients with cardiorenal syndrome.

  14. Cotard Syndrome.

    Science.gov (United States)

    Dieguez, Sebastian

    2018-01-01

    Cotard's syndrome is often described as the delusional belief that one is dead or non-existent. However, Jules Cotard's initial description (1880) of the "delusion of negations" was much richer and also involved delusions and claims of immortality and enormity, feelings of damnation, and illusions of bodily dissolution and transformation. Alternatively conceived as an extreme case of depression, hypochondria, or psychosis, the condition is considered rare and remains poorly understood. Cotard himself provided a taxonomy and several explanations for the condition, focusing on its distinction from classical persecutory delusions and suggesting that it could be a kind of reversed grandiosity. He proposed a psychosensory basis in the dissolution of mental imagery, which he then extended to a more general psychomotor impairment of volition. Other early authors highlighted a disorder of the bodily self, and more recent theories postulated an impairment of right hemispheric functions, leading to perceptual and somatosensory feelings of unreality, which coupled with reasoning impairments and an internalized attributional style led in turn to beliefs of non-existence. However, despite its striking presentation and its relevance to our understanding of self-awareness, Cotard's syndrome remains an elusive condition, rarely reported and poorly researched. © 2018 S. Karger AG, Basel.

  15. Tourette's Syndrome.

    Science.gov (United States)

    Gilbert, Donald L; Lipps, Tara D

    2005-05-01

    Tourette's syndrome is a childhood-onset neuropsychiatric disorder characterized by multiple motor and vocal tics, frequently accompanied by symptoms of obsessiveness and/or compulsiveness, anxiety, and behavioral impulsivity. Treatment of Tourette's syndrome symptoms should be considered when symptoms cause significant functional or social impairment or pain, as occurs with self-injurious tics. Because comorbid psychiatric disorders, particularly attention deficit hyperactivity disorder (ADHD) and obsessive-compulsive disorder often are present, clinicians must work with affected persons and families and prioritize treatment targets based on the specific disorder-related impairment. Treatment with alpha-2 adrenergic agonists may reduce tics and improve ADHD symptoms. Effective treatment of ADHD, even with stimulant medications, in most cases does not exacerbate tics. Treatment with selective serotonin reuptake inhibitors may reduce obsessive-compulsive and anxiety symptoms, secondarily reducing tics. Neuroleptics and atypical antipsychotics may be used for severe tics, but the risk of neurologic side effects and weight gain is significantly higher. Habit reversal treatment shows promise as a nonpharmacologic intervention. Use of deep brain stimulation has produced benefit in three severely affected adults but should still be considered experimental.

  16. Sotos syndrome

    Directory of Open Access Journals (Sweden)

    Cormier-Daire Valérie

    2007-09-01

    Full Text Available Abstract Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features. The exact prevalence remains unknown but hundreds of cases have been reported. The diagnosis is usually suspected after birth because of excessive height and occipitofrontal circumference (OFC, advanced bone age, neonatal complications including hypotonia and feeding difficulties, and facial gestalt. Other inconstant clinical abnormalities include scoliosis, cardiac and genitourinary anomalies, seizures and brisk deep tendon reflexes. Variable delays in cognitive and motor development are also observed. The syndrome may also be associated with an increased risk of tumors. Mutations and deletions of the NSD1 gene (located at chromosome 5q35 and coding for a histone methyltransferase implicated in transcriptional regulation are responsible for more than 75% of cases. FISH analysis, MLPA or multiplex quantitative PCR allow the detection of total/partial NSD1 deletions, and direct sequencing allows detection of NSD1 mutations. The large majority of NSD1 abnormalities occur de novo and there are very few familial cases. Although most cases are sporadic, several reports of autosomal dominant inheritance have been described. Germline mosaicism has never been reported and the recurrence risk for normal parents is very low (

  17. Asperger Syndrome (For Parents)

    Science.gov (United States)

    ... Staying Safe Videos for Educators Search English Español Asperger Syndrome KidsHealth / For Parents / Asperger Syndrome What's in ... Print en español Síndrome de Asperger What Is Asperger Syndrome? Asperger syndrome (AS) is a type of ...

  18. 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

  19. Brain Fag Syndrome

    African Journals Online (AJOL)

    Introduction. The Brain Fag Syndrome (BFS) was defined in the Diagnostic and. Statistical Manual of Mental Disorders (DSM-IV) as a culture bound syndrome in 1994, just like Koro syndrome and other culture related syndromes.1 BFS is a tetrad of somatic complaints; cognitive impairments; sleep related complaints; and ...

  20. 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.

  1. Trichorhinophalangeal syndrome

    Directory of Open Access Journals (Sweden)

    Mario Vaccaro

    2017-07-01

    Full Text Available Trichorhinophalangeal syndrome (TRPS is the collective name of three rare congenital conditions characterised by craniofacial and skeletal abnormalities. The three known types of TRPS have different modalities of genetic transmission: namely, TRPS I and III are inherited as an autosomal dominant disease, while the cases of TRPS II are essentially sporadic.The diagnosis of the different types of TRPS is based on clinical and radiological findings, eventually integrated by genetic analysis, particularly useful in some cases with the non-classical clinical presentation. Alopecia and structural abnormalities of the nose and the hands should be considered as clinical hallmarks, whereas endocrine disorders, renal alterations, ureteral reflux, heart pathology and bone dysplasia have been documented, in the setting of a multisystem involvement.

  2. HEPATORENAL SYNDROME

    Directory of Open Access Journals (Sweden)

    Matjaž Hafner

    2001-12-01

    Full Text Available Background. Hepatorenal syndrome (HRS is acommon complication of advanced hepatic disease characterizedby marked abnormalities in arterial circulation and byrenal failure. An extreme arteriolar vasodilatation located inthe splanchnic circulation results in a reduction of total systemicvascular resistence and arterial hypotension. Vasoconstrictionoccurs in the renal circulation as in all other extrasplanchnicvascular territories. In the kidney, marked renalvasoconstriction results in a low glomerular filtration rate.Conclusions. The diagnosis of HRS is currently based on exclusionof other causes of renal failure. Prognosis of patientswith HRS is very poor. Liver transplantation is the best therapeuticoption, but it is seldom applicable due to the short survivalexpectancy of most patients with HRS, particularly thosewith the rapidly progressive type of HRS. New therapies developedduring the last few years, such as the use of systemicvasoconstrictors or transjugular intrahepatic portosystemicshunts (TIPS appear promising. Such treatments are of interestnot only as a bridge to liver transplantation but also as atherapy for patients who are not candidates for transplantation.

  3. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine M; Bodtger, Uffe

    2016-01-01

    necrophorum. We found a total of 137 cases of LS, of which 47 were infected with F. necrophorum and others with Staphylococcus and Streptococcus. Complications of this rare but severe disease included osteomyelitis, meningitis, and acute respiratory distress syndrome. Mortality was extremely high in the pre......-antibiotic era but has diminished with the advent of antibiotics. This review showed a mortality rate of only 2% of which none of the cases involved fusobacteria. Duration of treatment varied; a 4-6-week course of carbapenem or piperacillin/tazobactam in combination with metronidazole was optimum. Other...... treatment options included anticoagulants in 46% of cases, which is unwarrantedly high, as to date, no evidence of the positive effects of anticoagulants in LS exists. Only two cases had ligation of the internal jugular vein performed. This review confirms the rare, but severe aspects of LS. Mortality from...

  4. Frailty syndrome

    DEFF Research Database (Denmark)

    Fumagalli, Stefano; Potpara, Tatjana S; Bjerregaard Larsen, Torben

    2017-01-01

    The age of patients presenting with complex arrhythmias is increasing. Frailty is a multifaceted syndrome characterized by an increased vulnerability to stressors and a decreased ability to maintain homeostasis. The prevalence of frailty is associated with age. The aims of this European Heart...... Rhythm Association (EHRA) EP Wire survey were to evaluate the proportion of patients with frailty and its influence on the clinical management of arrhythmias. A total of 41 centres-members of the EHRA Electrophysiology Research Network-in 14 European countries completed the web-based questionnaire...... in June 2017. Patients over 70 years represented 53% of the total treated population, with the proportion of frail elderly individuals reaching approximately 10%; 91.7% of the responding centres reported treating frail subjects in the previous year. The respondents usually recognized frailty based...

  5. Fraser syndrome

    DEFF Research Database (Denmark)

    Barisic, Ingeborg; Odak, Ljubica; Loane, Maria

    2013-01-01

    of birth defect registries. Between January 1990 and December 2008, we identified 26 cases of Fraser syndrome in the monitored population of 12,886,464 births (minimal estimated prevalence of 0.20 per 100,000 or 1:495,633 births). Most cases (18/26; 69%) were registered in the western part of Europe, where...... stillborn. Eye anomalies were found in 20/24 (83%), syndactyly in 14/24 (58%), and laryngeal anomalies in 5/24 (21%) patients. Ambiguous genitalia were observed in 3/24 (13%) cases. Bilateral renal agenesis was present in 12/24 (50%) and unilateral in 4/24 (17%) cases. The frequency of anorectal anomalies...

  6. Goldenhar syndrome.

    Science.gov (United States)

    Hossain, M M; Akhonda, A H; Islam, M F; Akonjee, A R

    2012-07-01

    A female child of 10 months age from Netrokona, Bangladesh was admitted in the department of ophthalmology, Mymensingh Medical College Hospital, Mymensingh on 20.01.12 with the complaints of swelling on both her eyes and swelling of area in front of both ears. The child is mentally alert. Her fixation reflex is central, steady and maintained. On examination whitish growth on limbus, hard in consistency, non mobile, non tender, fixed with underlying structure both eyes. There are pre auricular skin tags. There is no cardiac abnormality and ENT consultation done reveals normal except pre-auricular ear tags. X ray of mandible and maxilla shows hypoplasia of maxilla and mandible. Clinical examination and investigations confirmed the diagnosis as Goldenhar syndrome.

  7. Griscelli syndrome.

    Science.gov (United States)

    Emanuel, Patrick O; Sternberg, Lauren J; Phelps, Robert G

    2007-01-01

    The dermatology staff was called to evaluate abnormal hair on a 22-month-old Hispanic girl whose parents were first cousins. Her medical history was significant for leptomeningitis with subsequent neurologic devastation, gastroesophageal reflux disease, and recurrent respiratory infections. Her hospital course was complicated by sepsis, liver dysfunction, pan-cytopenia, and disseminated intravascular coagulation. She had developed normally for the first year of life. At 13 months she became progressively lethargic and developed floppy muscle tone; a delay in mental and motor milestones was recognized. Results of a metabolic workup were negative. On examination she was noted to have generalized excessively fair skin when compared with her parents. She had silver-gray hair (Figure 1) and white eyebrows and body hair. Her maternal grandfather and granduncles had silver hair since childhood, but were without health problems. A maternal family member was said to have light skin. The presumed diagnosis before pathologic examination was Chediak-Higashi syndrome. Hematoxylin and eosin stain tests revealed prominent melanocytes in the basal layer of the epidermis. The melanocytes were large and distended with a large volume of melanin (Figure 2). The adjacent keratinocytes were completely devoid of melanin. Application of Masson-Fontana ammoniac silver stain highlighted prominent melanocytic melanin and a relative paucity of melanin in the adjacent keratinocytes (Figure 3). Microscopic examination of her hair revealed clumps of melanin of various sizes and shapes irregularly distributed throughout the hair shaft. Ultrastructural examination of the epidermis showed the melanocytes were distended by an accumulation of large stage IV mature melanosomes. Peripheral blood smear failed to show abnormal granules, even after repeated examination. Based on the clinical features and the pathologic findings, a diagnosis of Griscelli syndrome type 2 was made.

  8. Noonan syndrome

    Directory of Open Access Journals (Sweden)

    van der Burgt Ineke

    2007-01-01

    Full Text Available Abstract Noonan Syndrome (NS is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hypertrophic cardiomyopathy. Other associated features are webbed neck, chest deformity, mild intellectual deficit, cryptorchidism, poor feeding in infancy, bleeding tendency and lymphatic dysplasias. The syndrome is transmitted as an autosomal dominant trait. In approximately 50% of cases, the disease is caused by missense mutations in the PTPN11 gene on chromosome 12, resulting in a gain of function of the non-receptor protein tyrosine phosphatase SHP-2 protein. Recently, mutations in the KRAS gene have been identified in a small proportion of patients with NS. A DNA test for mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. NS should be considered in all foetuses with polyhydramnion, pleural effusions, oedema and increased nuchal fluid with a normal karyotype. With special care and counselling, the majority of children with NS will grow up and function normally in the adult world. Management should address feeding problems in early childhood, evaluation of cardiac function and assessment of growth and motor development. Physiotherapy and/or speech therapy should be offered if indicated. A complete eye examination and hearing evaluation should be performed during the first few years of schooling. Preoperative coagulation studies are indicated. Signs and symptoms lessen with age and most adults with NS do not require special medical care.

  9. What Is Respiratory Distress Syndrome?

    Science.gov (United States)

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

  10. Learning about Fragile X Syndrome

    Science.gov (United States)

    ... Resources for Fragile X Syndrome What is fragile X syndrome? Fragile X syndrome is the most common form of ... Top of page What are the symptoms of fragile X syndrome? A boy who has the full FMR1 mutation ...

  11. Genetics Home Reference: RAPADILINO syndrome

    Science.gov (United States)

    ... intelligence. The varied signs and symptoms of RAPADILINO syndrome overlap with features of other disorders, namely Baller-Gerold syndrome and Rothmund-Thomson syndrome . These syndromes are also ...

  12. Genetics Home Reference: Rett syndrome

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions Rett syndrome Rett syndrome Printable PDF Open All Close All Enable ... autism-dementia-ataxia-loss of purposeful hand use syndrome Rett disorder Rett's disorder Rett's syndrome RTS RTT Related ...

  13. 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.

  14. Cushing syndrome in pediatrics.

    Science.gov (United States)

    Stratakis, Constantine A

    2012-12-01

    Cushing syndrome is characterized by truncal obesity, growth deceleration, skin changes, muscle weakness, and hypertension. Cushing syndrome in childhood usually results from the exogenous administration of glucocorticoids. This article presents the causes and discusses the treatment of endogenous Cushing syndrome. It also discusses the clinical and molecular genetics of inherited forms of this syndrome. Cushing syndrome needs to be diagnosed and treated properly when first recognized; improper treatment can turn this otherwise completely curable disorder into a chronic ailment. Barriers to optimal care of a pediatric patient with Cushing syndrome are discussed. Published by Elsevier Inc.

  15. Familial Miller Fisher syndrome.

    Science.gov (United States)

    Peeples, Eric

    2011-05-01

    Miller Fisher syndrome is an acute inflammatory polyradiculoneuropathy that is generally considered a variant of Guillain-Barré syndrome and is characterized by the clinical triad of ataxia, areflexia, and ophthalmoplegia. Several reports of familial Guillain-Barré syndrome have been reported, indicating a possible underlying genetic and/or environmental predisposition to the development of Guillain-Barré syndrome. A familial association in Miller Fisher syndrome has not previously been described in the literature. We report 2 cases of Miller Fisher syndrome presenting simultaneously in siblings, with a review of recent relevant literature.

  16. Antiphospholipid syndrome.

    Science.gov (United States)

    Schreiber, Karen; Sciascia, Savino; de Groot, Philip G; Devreese, Katrien; Jacobsen, Soren; Ruiz-Irastorza, Guillermo; Salmon, Jane E; Shoenfeld, Yehuda; Shovman, Ora; Hunt, Beverley J

    2018-01-11

    Antiphospholipid syndrome (APS) is an autoimmune disease characterized by the presence of antiphospholipid antibodies, such as lupus anticoagulant, anticardiolipin antibodies and anti-β2-glycoprotein 1 antibodies. APS can present with a variety of clinical phenotypes, including thrombosis in the veins, arteries and microvasculature as well as obstetrical complications. The pathophysiological hallmark is thrombosis, but other factors such as complement activation might be important. Prevention of thrombotic manifestations associated with APS includes lifestyle changes and, in individuals at high risk, low-dose aspirin. Prevention and treatment of thrombotic events are dependent mainly on the use of vitamin K antagonists. Immunosuppression and anticomplement therapy have been used anecdotally but have not been adequately tested. Pregnancy morbidity includes unexplained recurrent early miscarriage, fetal death and late obstetrical manifestation such as pre-eclampsia, premature birth or fetal growth restriction associated with placental insufficiency. Current treatment to prevent obstetrical morbidity is based on low-dose aspirin and/or low-molecular-weight heparin and has improved pregnancy outcomes to achieve successful live birth in >70% of pregnancies. Although hydroxychloroquine and pravastatin might further improve pregnancy outcomes, prospective clinical trials are required to confirm these findings.

  17. Tourette syndrome.

    Science.gov (United States)

    Shahana, Nasrin; Gilbert, Donald L

    2013-01-01

    This chapter addresses research applications of transcranial magnetic stimulation (TMS) in Tourette syndrome (TS). TS is a primary, idiopathic, neurological disorder characterized by multiple motor and vocal tics of childhood onset, with duration greater than 1 year, and associated in the majority of cases with attention-deficit/hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), and/or other psychiatric disorders. The majority of the chapter is a critical synopsis of case-control studies applying basic single- and paired-pulse TMS techniques to "resting" motor cortex. Newer applications of theta-burst stimulation are also analyzed. A number of intriguing findings have emerged, which may reflect abnormalities in several disrupted inhibitory or modulatory pathways that may underlie the tendency to manifest tics as well as commonly co-occurring problems such as ADHD and OCD. Chapter sections are organized by type of TMS measurement, with each section describing briefly the technique, the pitfalls of the technique with regard to the above-described challenges, the findings in TS using that technique, and the possible implications for those findings in furthering our understanding of TS. Possible future applications for TMS in studying TS are also discussed. © 2013 Elsevier B.V. All rights reserved.

  18. Hepatorenal Syndrome

    Directory of Open Access Journals (Sweden)

    Pınar Zeyneloğlu

    2012-04-01

    Full Text Available Renal failure is a common major complication in patients with advanced cirrhosis and generally indicates a poor prognosis when combined with liver failure. Hepatorenal syndrome (HRS is characterised by a combination of disturbances in circulatory and kidney function. Arterial pressure is decreased in the systemic circulation due to reduced total systemic vascular resistance. Kidney dysfunction is caused by reduction in renal blood flow. The diagnosis of HRS is based on exclusion of other disorders that cause acute kidney injury in cirrhosis as there are no specific tests. There are two types of HRS with different characteristics and prognostics. Liver transplantation is the treatment of choice for all patients without contraindication. The best approach to the pharmacologic management is the administration vasoconstrictor drugs based on the pathogenesis. Many vasoconstrictors including vasopressin analogues (terlipressin, ornipressin and vasopressin, somatostatin analogues (octreotide and alpha-adrenergic analogues (midodrine and norepinephrine have been studied. In most of the studies intravenous albumin therapy was coadministered with vasoconstrictor drugs and suggested that albumin should be considered as the component of pharmacologic intervention in patients with HRS. Renal replacement therapy in the form of hemodialysis or continuous venovenous hemofiltration has been used in the management of HRS patients awaiting transplantation or in those with acute potentially reversible conditions. The artificial hepatic support systems require further investigation. (Journal of the Turkish Society Intensive Care 2012; 10: 37-44

  19. [Acute catatonic syndrome after neuroleptic malignant syndrome].

    Science.gov (United States)

    Benjelloun, G; Jehel, L; Abgrall, G; Pelissolo, A; Allilaire, Jf

    2005-01-01

    We report the case of a young woman who deve-loped catatonic syndrome a few days after neuroleptic mali-gnant syndrome (NMS), arising the problem of the chronology of both affections. A 20-year old woman with an history of bipolar disorder, experienced an acute manic syndrome that made hospitalization necessary. Fourteen days after loxa-pine prescription, the patient developed a NMS (DSM IV criteria) dyskinesia, dysphagia, fever and alteration of cons-ciousness. Hepatic transaminases and muscular enzymes increased. Neuroleptic was immediately interrupted and benzodiazepines (Lorazepam) was started. Biological parameters were normalized after 7 days, hyperpyrexia decreased and extrapyramidal symptoms disappeared but manic symptoms persisted. Two weeks later, the patient presented nega-tivism, rigidity of the four limb, catalepsia and hyperpyrexia. She also had been anxious for death and presented auditory hallucinations. Bacteriological samples and computed tomography were normal. This catatonic symptoms did not decreased and electroconvulsive therapy (ECT) was necessary. After six ECT, she started standing up, walking, taking food and speaking. After 12 ECT, the clinical state was the same as it was before the acute episod. The patient was then treated with valproate and lorazepam for anxiety symptoms. Acute catatonie, a rare and life-threatening acute syndrome was described in psychosis before the advent of neuroleptic drugs. It's characterized by hyperexia, stupor alternated with exctement, rigidity. Many etiolologic factors have been reported for this affection: psychogenic, organic or toxic. Neuroletic malignant syndrome is a potentially fatal complication of neuroleptic treatment occuring in about 1% of patients treated with neuroleptic. This syndrome is characterised by consciousness alteration, extrapyramidal symptoms, autonomic and thermic disorders. Similar clinical and biological features in catatonia and neuroleptic malignant syndrome (NMS) suggest a

  20. Sexuality and Down Syndrome

    Science.gov (United States)

    ... NDSS Events Shop NDSS Contact NDSS > Resources > Sexuality Sexuality Sexuality & Down Syndrome Human sexuality encompasses an individual’s self- ... community standards for adult behavior. How Can Healthy Sexuality be Encouraged for Individuals with Down Syndrome? Creating ...

  1. Acute respiratory distress syndrome

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/000103.htm Acute respiratory distress syndrome To use the sharing features on this page, please enable JavaScript. Acute respiratory distress syndrome (ARDS) is a life-threatening lung ...

  2. 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 ...

  3. 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.

  4. Facts about Down Syndrome

    Science.gov (United States)

    ... syndrome: Evidence for consistent association among altered meiotic recombination, nondisjunction, and maternal age across populations. Am J ... 11):991-1002. Bull MJ, the Committee on Genetics. Health supervision for children with Down syndrome. Pediatrics. ...

  5. Polycystic Ovary Syndrome FAQ

    Science.gov (United States)

    f AQ FREQUENTLY ASKED QUESTIONS FAQ121 GYNECOLOGIC PROBLEMS Polycystic Ovary Syndrome (PCOS) • What are common signs and symptoms of polycystic ovary syndrome (PCOS)? • What causes PCOS? • What is insulin resistance? • ...

  6. Pregnancy Complications: HELLP Syndrome

    Science.gov (United States)

    ... baby Common illnesses Family health & safety Complications & Loss Pregnancy complications Preterm labor & premature birth The newborn intensive care ... Point, NY 10980 Close X Home > Complications & Loss > Pregnancy complications > HELLP syndrome HELLP syndrome E-mail to a ...

  7. Thoracic Outlet Syndrome

    Science.gov (United States)

    ... TOS, including rotator cuff injuries, cervical disc disorders, fibromyalgia, multiple sclerosis, complex regional pain syndrome, and tumors ... TOS, including rotator cuff injuries, cervical disc disorders, fibromyalgia, multiple sclerosis, complex regional pain syndrome, and tumors ...

  8. Obesity hypoventilation syndrome (OHS)

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000085.htm Obesity hypoventilation syndrome (OHS) To use the sharing features on this page, please enable JavaScript. Obesity hypoventilation syndrome (OHS) is a condition in some ...

  9. Diabetic hyperglycemic hyperosmolar syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000304.htm Diabetic hyperglycemic hyperosmolar syndrome To use the sharing features on this page, please enable JavaScript. Diabetic hyperglycemic hyperosmolar syndrome (HHS) is a complication of ...

  10. Munchausen syndrome by proxy

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/001555.htm Munchausen syndrome by proxy To use the sharing features on this page, please enable JavaScript. Munchausen syndrome by proxy is a mental illness and ...

  11. Tics and Tourette Syndrome

    Science.gov (United States)

    ... me that I could give to my child’s teacher/daycare provider? Other organizationsTourette Syndrome Association ResourcesRecognition and Management of Tourette’s Syndrome and Tic Disorders by MM Bagheri, J Kerbeshian, L Burd ( ...

  12. Cri du chat syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/001593.htm Cri du chat syndrome To use the sharing features on this page, please enable JavaScript. Cri du chat syndrome is a group of symptoms that result from ...

  13. Ehlers-Danlos Syndrome

    Science.gov (United States)

    ... skinned people, the underlying blood vessels are very visible through the skin. Ehlers-Danlos syndrome, vascular type, ... history of Ehlers-Danlos syndrome and you're thinking about starting a family, you may benefit from ...

  14. Alport Syndrome Diagnosis

    Science.gov (United States)

    ... Groups Hear From the Experts Follow us on Facebook! Alport Syndrome Foundation of USA 10 hours ago ... the various stages of kidney disease. View on Facebook · Share View on Facebook The Alport syndrome Foundation ...

  15. Alport Syndrome Foundation

    Science.gov (United States)

    ... Groups Hear From the Experts Follow us on Facebook! Alport Syndrome Foundation of USA 1 day ago ... 2017. Karol provided an ov... Video View on Facebook · Share View on Facebook The Alport syndrome Foundation ...

  16. Battered woman syndrome.

    Science.gov (United States)

    Dorkins, E; Smith, J

    1998-12-01

    Recent judgments in the Court of Appeal have highlighted the significance of battered woman syndrome. This article describes the origin and features of the syndrome and some of its shortcomings. Medical aspects and legal applications of the concept are discussed.

  17. 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 ...

  18. 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, ...

  19. 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 ...

  20. Klinefelter Syndrome (For Teens)

    Science.gov (United States)

    ... like penis and testicle growth, and growth of body hair and muscles. Boys with Klinefelter syndrome may also ... rare cases, not at all) less facial and body hair following puberty Boys with Klinefelter syndrome may have ...

  1. Ear, Nose & Throat Issues & Down Syndrome

    Science.gov (United States)

    ... 4602 [email protected] Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ... Helpline » Follow us Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ...

  2. [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.

  3. The post abortive syndrom

    OpenAIRE

    Fojtíková, Kateřina

    2009-01-01

    The issue of the post abortive syndrome is new and inadequately discussed. The syndrome itself is a set of symptoms and troubles that a certain number of women develop after an abortion, be it a miscarriage or an induced termination of pregnancy. The syndrome is regarded as a special form of posttraumatic stress disorder. The term of post abortive syndrome is rather divisive, a fact attributable primarily to the important role that the term plays in the prolife and pro-abortion controversies....

  4. Metabolic Syndrome and Migraine

    OpenAIRE

    Amit eSachdev; Michael eMarmura

    2012-01-01

    Migraine and metabolic syndrome are highly prevalent and costly conditions. The two conditions coexist, but it is unclear what relationship may exist between the two processes. Metabolic syndrome involves a number of findings, including insulin resistance, systemic hypertension, obesity, a proinflammatory state, and a prothrombotic state. Only one study addresses migraine in metabolic syndrome, finding significant differences in the presentation of metabolic syndrome in migraineurs. However, ...

  5. 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.)....

  6. Brugada syndrome

    Directory of Open Access Journals (Sweden)

    Priori Silvia G

    2006-09-01

    Full Text Available Abstract A novel clinical entity characterized by ST segment elevation in right precordial leads (V1 to V3, incomplete or complete right bundle branch block, and susceptibility to ventricular tachyarrhythmia and sudden cardiac death has been described by Brugada et al. in 1992. This disease is now frequently called "Brugada syndrome" (BrS. The prevalence of BrS in the general population is unknown. The suggested prevalence ranges from 5/1,000 (Caucasians to 14/1,000 (Japanese. Syncope, typically occurring at rest or during sleep (in individuals in their third or fourth decades of life is a common presentation of BrS. In some cases, tachycardia does not terminate spontaneously and it may degenerate into ventricular fibrillation and lead to sudden death. Both sporadic and familial cases have been reported and pedigree analysis suggests an autosomal dominant pattern of inheritance. In approximately 20% of the cases BrS is caused by mutations in the SCN5A gene on chromosome 3p21-23, encoding the cardiac sodium channel, a protein involved in the control of myocardial excitability. Since the use of the implantable cardioverter defibrillator (ICD is the only therapeutic option of proven efficacy for primary and secondary prophylaxis of cardiac arrest, the identification of high-risk subjects is one of the major goals in the clinical decision-making process. Quinidine may be regarded as an adjunctive therapy for patients at higher risk and may reduce the number of cases of ICD shock in patients with multiple recurrences.

  7. 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

  8. Arthritis in Down's syndrome.

    Science.gov (United States)

    Dacre, J E; Huskisson, E C

    1988-03-01

    A 31 year old man with Down's syndrome presented with a 10 year history of an inflammatory polyarthritis resembling juvenile chronic arthritis. This case was similar to those already reported of an arthropathy associated with Down's syndrome but was eventually found to be gout. This emphasised the importance of serum uric acid estimation in patients with Down's syndrome and coexistent arthritis.

  9. Arthritis in Down's syndrome.

    OpenAIRE

    Dacre, J. E.; Huskisson, E C

    1988-01-01

    A 31 year old man with Down's syndrome presented with a 10 year history of an inflammatory polyarthritis resembling juvenile chronic arthritis. This case was similar to those already reported of an arthropathy associated with Down's syndrome but was eventually found to be gout. This emphasised the importance of serum uric acid estimation in patients with Down's syndrome and coexistent arthritis.

  10. Lethal multiple pterygium syndrome

    Directory of Open Access Journals (Sweden)

    Tulika Joshi

    2016-01-01

    Full Text Available The multiple pterygium syndrome is consist of wide range of fetal malformations which have a genetic linkage. A defect in embryonic acetylcholine receptor which can be inherited as autosomal recessive, autosomal dominant, or X-linked fashion is the cause of this syndrome. We present a sporadic case of lethal multiple pterygium syndrome.

  11. Cardio-renal syndrome

    OpenAIRE

    Joseph Gnanaraj; Jai Radhakrishnan

    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.

  12. Post cardiac injury syndrome

    DEFF Research Database (Denmark)

    Nielsen, S L; Nielsen, F E

    1991-01-01

    The post-pericardiotomy syndrome is a symptom complex which is similar in many respects to the post-myocardial infarction syndrome and these are summarized under the diagnosis of the Post Cardiac Injury Syndrome (PCIS). This condition, which is observed most frequently after open heart surgery...

  13. Kounis syndrome and ziprasidone.

    Science.gov (United States)

    Hamera, Leonard; Khishfe, Basem F

    2017-03-01

    Kounis syndrome (KS), described by Kounis and Zavras in 1991, is the manifestation of an allergic reaction preceding and leading to an acute coronary syndrome (ACS). There are three variants of Kounis Syndrome. Here we describe a novel case report of a type 1 variant secondary to Ziprasidone. Copyright © 2016 Elsevier Inc. All rights reserved.

  14. Treacher Collins syndrome

    Directory of Open Access Journals (Sweden)

    Y Samata

    2008-01-01

    Full Text Available Treacher Collin′s syndrome is a rare syndrome that is characterized primarily by defects of the structures derived from first and second branchial arches. It is a group of closely related defects of head and face; often hereditary/familial in pattern. We report a case of a 20 year old female patient who presented with features of this syndrome.

  15. Treacher Collins syndrome

    OpenAIRE

    Y Samata; K S Ganapathy; S Latha; B N Padmavathi

    2008-01-01

    Treacher Collin′s syndrome is a rare syndrome that is characterized primarily by defects of the structures derived from first and second branchial arches. It is a group of closely related defects of head and face; often hereditary/familial in pattern. We report a case of a 20 year old female patient who presented with features of this syndrome.

  16. Exophthalmos in Cushing's syndrome.

    Science.gov (United States)

    Kelly, W

    1996-08-01

    Exophthalmos was noted in 4 of the 12 patients reported by Harvey Cushing in 1932. Although exophthalmos has often been included in clinical descriptions, no previous study has reported actual measurements in patients with active and treated Cushing's syndrome, and in control patients. The aim of this study was to obtain these measurements. Thirty-one patients with active Cushing's syndrome (19 iatrogenic), 15 with treated Cushing's syndrome, 18 with Graves' ophthalmopathy, 59 control patients, and 3 patients with active Cushing's syndrome plus a family or personal history of thyroid disease. A consecutive series of patients with active and treated Cushing's syndrome were assessed. They were compared with patients with Graves' ophthalmopathy, and with control patients. Exophthalmos was assessed by the author using a Hertel meter. Urinary free cortisol was measured on patients with Cushing's syndrome, and serum thyroxine was estimated for them, and for the patients with Graves' ophthalmopathy. Exophthalmos exceeding 16 mm (> 2 SD above normal mean) was found in 45% of active Cushing's syndrome, 21% of iatrogenic Cushing's syndrome, 20% of treated Cushing's syndrome, 2% of normal controls, and 77% of patients with Graves' ophthalmopathy. No patient with Cushing's syndrome had significant symptoms due to exophthalmos. Patients with active Cushing's syndrome have statistically significant exophthalmos. This rarely causes symptoms, and diminishes when cortisol concentrations become normal. Cushing's syndrome and autoimmune thyroid disease may coexist in patients with exophthalmos.

  17. Familial Crouzon syndrome

    Directory of Open Access Journals (Sweden)

    Y Samatha

    2010-01-01

    Full Text Available Crouzon syndrome is an autosomal dominant condition of the craniosynostotic syndromes without syndactyly and with various dentofacial anomalies. Craniosynostosis, maxillary hypoplasia, shallow orbits, ocular proptosis and hypertelorism are the characteristic features of Crouzon syndrome. This report describes the variable clinical features in affected individuals over two generations of a family with dentofacial deformities and review of literature.

  18. 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.

  19. Signatures of positive selection at hemopexin (PEX) domain of ...

    Indian Academy of Sciences (India)

    2015-12-03

    Dec 3, 2015 ... Center for Food Products (Shanghai), Shanghai 200233, People's Republic of China. 2Department of Microbiology and Microbial Engineering, School of Life Science, Fudan University,. Shanghai 200433, People's Republic of China. 3Department of Laparoscopic Surgery, Shandong University, Linyi ...

  20. Signatures of positive selection at hemopexin (PEX) domain of ...

    Indian Academy of Sciences (India)

    t.v Supervision and Inspection Center for Food Products (Shanghai), Shanghai 200233, People's Republic of China; Department of Microbiology and Microbial Engineering, School of Life Science, Fudan Urn.versit.v, Shanghai 200433, People s Republic of China; Department of Laparoscopic Surgery, Shandong Urn.versity ...

  1. Hypereosinophilic syndromes

    Directory of Open Access Journals (Sweden)

    Goldman Michel

    2007-09-01

    Full Text Available Abstract Hypereosinophilic syndromes (HES constitute a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia (> 1.5 × 109/L for more than six consecutive months associated with evidence of eosinophil-induced organ damage, where other causes of hypereosinophilia such as allergic, parasitic, and malignant disorders have been excluded. Prevalence is unknown. HES occur most frequently in young to middle-aged patients, but may concern any age group. Male predominance (4–9:1 ratio has been reported in historic series but this is likely to reflect the quasi-exclusive male distribution of a sporadic hematopoietic stem cell mutation found in a recently characterized disease variant. Target-organ damage mediated by eosinophils is highly variable among patients, with involvement of skin, heart, lungs, and central and peripheral nervous systems in more than 50% of cases. Other frequently observed complications include hepato- and/or splenomegaly, eosinophilic gastroenteritis, and coagulation disorders. Recent advances in underlying pathogenesis have established that hypereosinophilia may be due either to primitive involvement of myeloid cells, essentially due to occurrence of an interstitial chromosomal deletion on 4q12 leading to creation of the FIP1L1-PDGFRA fusion gene (F/P+ variant, or to increased interleukin (IL-5 production by a clonally expanded T cell population (lymphocytic variant, most frequently characterized by a CD3-CD4+ phenotype. Diagnosis of HES relies on observation of persistent and marked hypereosinophilia responsible for target-organ damage, and exclusion of underlying causes of hypereosinophilia, including allergic and parasitic disorders, solid and hematological malignancies, Churg-Strauss disease, and HTLV infection. Once these criteria are fulfilled, further testing for eventual pathogenic classification is warranted using appropriate cytogenetic and functional approaches. Therapeutic

  2. Down syndrome: An overview

    Directory of Open Access Journals (Sweden)

    Samuel Otabor Wajuihian

    2016-03-01

    Full Text Available Optometrists as primary eye care providers examine patients from diverse populations, including those with special needs such as Down syndrome. Down syndrome is a chromosomal abnormality associated with several health conditions including vision anomalies such as refractive, accommodative and vergence anomalies, as well as ocular pathology. In this article, a narrative review of Down syndrome including the background, historical perspective, aetiology and genetic mechanisms, types, epidemiology, as well as the physical and medical profile of Down syndrome is presented.Keywords: Down syndrome review; Trisomy 21; historical perspective; etiology; types and epidemiology; features; Optometrist

  3. 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.

  4. 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.

  5. [Chromosome breakage syndrome and fragile X syndrome].

    Science.gov (United States)

    Shiraishi, Y

    1995-11-01

    Chromosome instability is a characteristic cytogenetic feature of a number of genetically determined human disorders collectively known as chromosome breakage syndromes. Included among the disorders are Bloom's syndrome (BS), Fanconi's anemia (FA), ataxia telangiectasia (AT). In each of the syndromes chromosome instability exists in the form of increased frequencies of breaks and interchanges occurring either spontaneously or following treatment with various DNA-damaging agents. These diseases have in common an autosomal recessive transmission and an increased tendency to develop malignancies. The blood cells of subjects with AT, BS, or FA are significantly more radiosensitive than those of controls, particularly in the occurrence of chromosome aberrations.

  6. Goldenhar syndrome in association with Duane syndrome.

    Science.gov (United States)

    Shrestha, U D; Adhikari, S

    2012-01-01

    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.

  7. Metabolic syndrome and migraine

    Directory of Open Access Journals (Sweden)

    Amit eSachdev

    2012-11-01

    Full Text Available Migraine and metabolic syndrome are highly prevaleirnt and costly conditions.The two conditions coexist, but it is unclear what relationship may exist between the two processes. Metabolic syndrome involves a number of findings, including insulin resistance, systemic hypertension, obesity, a proinflammatory state, and a prothrombotic state. Only one study addresses migraine in metabolic syndrome, finding significant differences in the presentation of metabolic syndrome in migraineurs. However, controversy exists regarding the contribution of each individual risk factor to migraine pathogensis and prevalence. It is unclear what treatment implications, if any, exist as a result of the concomitant diagnosis of migraine and metabolic syndrome. The cornerstone of migraine and metabolic syndrome treatments is prevention, relying heavily on diet modification, sleep hygiene, medication use, and exercise.

  8. 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.

  9. Migraine in metabolic syndrome.

    Science.gov (United States)

    Guldiken, Baburhan; Guldiken, Sibel; Taskiran, Bengur; Koc, Gonul; Turgut, Nilda; Kabayel, Levent; Tugrul, Armagan

    2009-03-01

    Recent studies suggest that insulin resistance is more common in patients with migraine. Insulin resistance underlies the pathogenesis of obesity, diabetes, and hypertension that are components of metabolic syndrome. As migraine is associated with an increased risk of vascular disorders, such as stroke, and migraine patients have higher diastolic blood pressure than healthy individuals, we aimed to investigate the 1-year prevalence of migraine in metabolic syndrome. Two hundred ten patients with metabolic syndrome were enrolled in the study. Migraine was diagnosed according to International Classification of Headache Disorders-II criteria. Migraine prevalence was estimated as 11.9% in men and 22.5% in women with metabolic syndrome. Of the metabolic syndrome components, diabetes, increased waist circumference, and body mass index were significantly more frequent in patients with migraine in contrast to those without migraine (Pmigraine prevalence in metabolic syndrome was higher than in the general population.

  10. Metabolic syndrome and migraine.

    Science.gov (United States)

    Sachdev, Amit; Marmura, Michael J

    2012-01-01

    Migraine and metabolic syndrome are highly prevalent and costly conditions. The two conditions coexist, but it is unclear what relationship may exist between the two processes. Metabolic syndrome involves a number of findings, including insulin resistance, systemic hypertension, obesity, a proinflammatory state, and a prothrombotic state. Only one study addresses migraine in metabolic syndrome, finding significant differences in the presentation of metabolic syndrome in migraineurs. However, controversy exists regarding the contribution of each individual risk factor to migraine pathogenesis and prevalence. It is unclear what treatment implications, if any, exist as a result of the concomitant diagnosis of migraine and metabolic syndrome. The cornerstone of migraine and metabolic syndrome treatments is prevention, relying heavily on diet modification, sleep hygiene, medication use, and exercise.

  11. [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.

  12. Orofacial syndromes: A review

    Directory of Open Access Journals (Sweden)

    N Shyam Sunder

    2011-01-01

    Full Text Available A syndrome is a set of signs and symptoms that tend to occur together and reflect the presence of a particular disease or an increased chance of developing to a particular disease. There are numerous orofacial syndromes and a thorough knowledge of their manifestations and implications is pertinent in good oral health care delivery. The aim of this review is to describe collective esoteric knowledge, about various malformations and syndromes associated with orofacial region.

  13. [Chilaidity syndrome. Case report].

    Science.gov (United States)

    Candela, Stefano; Candela, Giancarlo; Di Libero, Lorenzo; Argano, Francesco; Romano, Ornella; Iannella, Iolanda

    2012-01-01

    Chilaidity syndrome is a mal position by bowel mal rotation o malfissation. It is more common in right side expecially in obese people. If asyimptomatic, the syndrome is an occasional comparison by radiology, surgical exploration by laparoscopy or autopsy, otherwise, if symptomatic, there are obstructive symptoms,abdominal pain, nausea, vomiting, abdominal distension, flatulence, breath, constipation and anorexia. Diagnosis is radiological. We present a rare case of this syndrome in a man with serious obstructive symptoms.

  14. Genetics Home Reference: Moebius syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Moebius syndrome Moebius syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Moebius syndrome is a rare neurological condition that primarily affects ...

  15. Genetics Home Reference: Troyer syndrome

    Science.gov (United States)

    ... peripheral nervous system). Troyer syndrome is a complex hereditary spastic paraplegia. People with Troyer syndrome can experience a variety ... Other Diagnosis and Management Resources (3 links) GeneReview: Hereditary Spastic Paraplegia ... Troyer Syndrome Spastic Paraplegia Foundation, Inc.: ...

  16. Genetics Home Reference: Cockayne syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Cockayne syndrome Cockayne syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Cockayne syndrome is a rare disorder characterized by an abnormally ...

  17. Genetics Home Reference: Angelman syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Angelman syndrome Angelman syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Angelman syndrome is a complex genetic disorder that primarily ...

  18. Genetics Home Reference: Arts syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Arts syndrome Arts syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Arts syndrome is a disorder that causes serious neurological ...

  19. Carpal Tunnel Syndrome (For Kids)

    Science.gov (United States)

    ... OK for Kids? Your Teeth Heart Murmurs Carpal Tunnel Syndrome KidsHealth > For Kids > Carpal Tunnel Syndrome Print ... syndrome in the first place. Where Is This Tunnel? Take a look at the palm of your ...

  20. Mental Health Issues & Down Syndrome

    Science.gov (United States)

    ... born with Down syndrome have a heart defect. Mental Health Issues & Down Syndrome At least half of ... and adults with Down syndrome face a major mental health concern during their life span. Obstructive Sleep ...

  1. Genetics Home Reference: Liddle syndrome

    Science.gov (United States)

    ... Liddle syndrome Liddle syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Liddle syndrome is an inherited form of high blood pressure (hypertension). This condition is characterized by severe hypertension ...

  2. Compartment Syndrome in Children.

    Science.gov (United States)

    Hosseinzadeh, Pooya; Hayes, Christopher B

    2016-07-01

    Compartment syndrome in children can present differently than adults. Increased analgesic need should be considered the first sign of evolving compartment syndrome in children. Children with supracondylar humerus fractures, floating elbow injuries, operatively treated forearm fractures, and tibia fractures are at high risk for developing compartment syndrome. Elbow flexion beyond 90° in supracondylar humerus fractures and closed treatment of forearm fractures in floating elbow injuries are associated with increased risk of compartment syndrome. Prompt diagnosis and treatment with fasciotomy in children result in excellent long-term outcomes. Copyright © 2016 Elsevier Inc. All rights reserved.

  3. Sjogren's Syndrome Information Page

    Science.gov (United States)

    ... Syndrome Information Page NINDS Whiplash Information Page NINDS Infantile Spasms Information Page NINDS Myotonia Congenita Information Page NINDS Ataxias and Cerebellar or Spinocerebellar Degeneration Information Page Congenital ...

  4. [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.

  5. Moebius Syndrome Foundation

    Science.gov (United States)

    ... friends and relatives For professionals Treatment options Video introduction to Moebius syndrome Who we are Mission and History Foundation leadership Scientific advisory board Press room Our stories Financial ...

  6. Postural Tachycardia Syndrome

    Science.gov (United States)

    ... sensitivity. Other NINDS-funded research is investigating the hypothesis that POTS is a syndrome of different subtypes, with different underlying mechanisms. ... Publications Definition Postural ...

  7. Capgras' syndrome with organic disorders.

    Science.gov (United States)

    Collins, M. N.; Hawthorne, M. E.; Gribbin, N.; Jacobson, R.

    1990-01-01

    Capgras' syndrome, one form of the delusional misidentification syndromes, is described. Three patients with the syndrome are reported. The first had a right cerebral infarction, the second had nephrotic syndrome secondary to severe pre-eclampsia in the puerperium, and the third had uncontrolled diabetes mellitus with dementia. Evidence is reviewed regarding an organic aetiology for Capgras' syndrome. We conclude that, when the syndrome is present, a thorough search for organic disorder should be made. PMID:2084656

  8. Polycystic Ovary Syndrome (PCOS) Fact Sheet

    Science.gov (United States)

    ... Home A-Z Health Topics Polycystic ovary syndrome Polycystic ovary syndrome > A-Z Health Topics Polycystic ovary syndrome fact ... To receive Publications email updates Enter email Submit Polycystic ovary syndrome Polycystic ovary syndrome (PCOS) is a health problem ...

  9. What Are the Treatments for Rett Syndrome?

    Science.gov (United States)

    ... Pinterest Email Print What are the treatments for Rett syndrome? Most people with Rett syndrome benefit from well- ... 2012, from http://www.rettsyndrome.org/understanding-rett-syndrome/about-rett-syndrome [top] PubMed Health. (2010). Rett syndrome . Retrieved ...

  10. Rubinstein-Taybi syndrome

    African Journals Online (AJOL)

    e major manifestations of Rubinstein-Taybi syn- drome (RSTS) (OMIM 180849), also referred to as the 'broad thumb-hallux syndrome' and 'multiple congenital anomalies/mental retardation syndrome', are a characteristic facies, broad thumbs and great toes, stunted stature and mental retardation. Following the initial.

  11. Chronic fatigue syndrome

    African Journals Online (AJOL)

    syndrome is also called yuppie 'flu. Objective. To acknowledge the clinical syndrome CFS, and outline the diagnostic criteria and rational management ... levels of exercise that would have been tolerated easily in the patient's premorbid state. "7. Generalised headaches (or a type, severity or pattern different from headaches ...

  12. Ehlers-Danlos' syndrom

    DEFF Research Database (Denmark)

    Leganger, Julie; Søborg, Marie-Louise Kulas; Farholt, Stense

    2016-01-01

    Ehlers-Danlos syndrome Ehlers-Danlos syndrome (EDS) comprises a group of diseases characterized by connective tissue fragility. The clinical symptoms primarily involve the skin, joints, blood vessels and internal organs. Diagnosing EDS is complicated because of the clinical variability, imprecise...

  13. The sick building syndrome

    OpenAIRE

    Joshi Sumedha

    1985-01-01

    The sick building syndrome comprises of various nonspecific symptoms that occur in the occupants of a building. This feeling of ill health increases sickness absenteeism and causes a decrease in productivity of the workers. As this syndrome is increasingly becoming a major occupational hazard, the cause, management and prevention of this condition have been discussed in this article.

  14. The sick building syndrome.

    Science.gov (United States)

    Joshi, Sumedha M

    2008-08-01

    The sick building syndrome comprises of various nonspecific symptoms that occur in the occupants of a building. This feeling of ill health increases sickness absenteeism and causes a decrease in productivity of the workers. As this syndrome is increasingly becoming a major occupational hazard, the cause, management and prevention of this condition have been discussed in this article.

  15. Yellow nail syndrome

    Directory of Open Access Journals (Sweden)

    Dixit Ramakant

    2007-01-01

    Full Text Available A case of yellow nail syndrome is described in a forty year old male patient who presented with classical triad of this syndrome i.e. deformed yellow nails, lymph-edema and chronic recurrent pleural effusion. The practical problems in the di-agnosis are also briefly discussed with emphasis on awareness of this rare clinical entity.

  16. Trigeminalt trofisk syndrom--

    DEFF Research Database (Denmark)

    Kjaerskov, Mette Wanscher; Bygum, Anette

    2009-01-01

    Trigeminal trophic syndrome (TTS) is a rare but well-described syndrome consisting of the triad: paraesthesia, anaesthesia and crescent-shaped ulceration of the ala nasi. We report a case of a 62-year-old woman presenting with TTS after operative excision of an acusticus neurinoma. She attended s...

  17. Proteus syndrome in adulthood

    NARCIS (Netherlands)

    Muller, E; Lichtendahl, DHE; Hofer, SOP

    Proteus syndrome is a very rare congenital condition comprising malformations and overgrowth of multiple sorts of tissue. It was described for the first time in 1979 and was termed Proteus syndrome in 1983. The authors describe a 37-year-old patient who was diagnosed initially as having

  18. Alexithymia in Noonan syndrome

    NARCIS (Netherlands)

    Verhoeven, W.M.A.; Hendrikx, J.L.M.; Doorakkers, M.C.; Egger, J.I.M.; Burgt, C.J.A.M. van der; Tuinier, S.

    2004-01-01

    Although Noonan syndrome is quite prevalent, there is a general paucity in the description of psychological and psychiatric aspects. In the present paper a 19-year-old female patient with Noonan syndrome is described who presented with anxiety symptoms. Mutation analysis in PTPN11, the NS1 gene on

  19. The quadrilateral space syndrome.

    Science.gov (United States)

    Okino, S; Miyaji, H; Matoba, M

    1995-05-01

    We describe a 21-year-old woman with left shoulder pain increased by desk work. Left subclavian angiography disclosed occlusion of the posterior circumflex humeral artery on abduction and external rotation of the arm, compatible with the previous reports of the quadrilateral space syndrome. This syndrome should be considered in patients with shoulder pain of unknown aetiology.

  20. Acute heart failure syndrome

    African Journals Online (AJOL)

    Heart failure can be defined as a clinical syndrome in which a structural or functional cardiac abnormality impairs the capacity of the ventricle to fill or eject enough blood for the requirements of the body. Acute heart failure syndrome represents a complex, heterogeneous set of clinical conditions, all with the common.

  1. MECP2 Duplication Syndrome

    DEFF Research Database (Denmark)

    Signorini, Cinzia; De Felice, Claudio; Leoncini, Silvia

    2016-01-01

    Rett syndrome (RTT) and MECP2 duplication syndrome (MDS) are neurodevelopmental disorders caused by alterations in the methyl-CpG binding protein 2 (MECP2) gene expression. A relationship between MECP2 loss-of-function mutations and oxidative stress has been previously documented in RTT patients...

  2. 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.

  3. Miller–Fisher syndrome

    Directory of Open Access Journals (Sweden)

    Anna Vladimirovna Kraeva

    2013-01-01

    Full Text Available Miller–Fisher syndrome is a rare variant of acute inflammatory demyelinating polyneuropathy. The paper describes a case of Miller–Fisher syndrome developing as ophthalmoplegia, ataxia, and areflexia one week after acute respiratory viral infection. Within 3 weeks, neurological disorders completely regressed due to a plasmapheresis session and intravenous immunoglobulin injection.

  4. Sheehan's Syndrome (Postpartum Hypopituitarism)

    Science.gov (United States)

    ... in developing countries. Treatment of Sheehan's syndrome involves lifelong hormone replacement therapy. Symptoms Signs and symptoms of Sheehan's syndrome typically appear slowly, after a period of months or even years. But sometimes problems appear right away, such as the inability to ...

  5. Taurodontism and Klinefelter's syndrome.

    Science.gov (United States)

    Komatz, Y; Tomoyoshi, T; Yoshida, O; Fujimoto, A; Yoshitake, K

    1978-01-01

    The incidence of taurodontism in 31 patients with XXY Klinefelter's syndrome was studied. Taurodont molars were observed in 6 of the 31 cases (19.4%), a significantly higher rate than among the controls. Though taurodontism is not an obligatory finding in Klinefelter's syndrome, it is believed to be one of the anomalies frequently observed in connection with this condition. Images PMID:745217

  6. Second-Impact Syndrome

    Science.gov (United States)

    Cobb, Sarah; Battin, Barbara

    2004-01-01

    Sports-related injuries are among the more common causes of injury in adolescents that can result in concussion and its sequelae, postconcussion syndrome and second-impact syndrome (SIS). Students who experience multiple brain injuries within a short period of time (hours, days, or weeks) may suffer catastrophic or fatal reactions related to SIS.…

  7. Prader-Willi syndrome

    Science.gov (United States)

    ... can help a child with Prader-Willi syndrome gain muscle. Growth hormone is used to treat Prader-Willi syndrome. It can help: Build strength and agility Improve height Increase muscle mass and decrease body fat Improve weight distribution Increase ...

  8. Rothmund - Thomson Syndrome

    Directory of Open Access Journals (Sweden)

    Sharma N. L

    2003-01-01

    Full Text Available Rothmund-Thomson syndrome is a rare geno-photodermatosis of children. Poikilodermatous cutaneous changes, growth retardation, juvenile cataract and high incidence of malignancy are its classical features. A Thomson type of Rothmund-Thomson syndrome with characteristic poikiloderma congenitale, growth retardation, absence of juvenile cataract and parental non-consanguinity is described in an 8 year old Indian girl.

  9. Reye Syndrome and Aspirin

    OpenAIRE

    J Gordon Millichap

    1987-01-01

    Twenty-six cases of Reye syndrome occurring between 1973 and 1982 have been reviewed in relation to aspirin ingestion at the Children’s Hospital, Camperdown, Australia (formerly the Royal Alexandra Hospital for Children in Sydney), where Reye first described his syndrome of encephalopathy and fatty degeneration of the viscera in 1963.

  10. Prader-Willi Syndrome

    Science.gov (United States)

    ... Behavioral problems can interfere with family functioning, successful education and social participation. They can also reduce the quality of life for children, teenagers and adults with Prader-Willi syndrome. Prevention If you have a child with Prader-Willi syndrome and would like to ...

  11. SHORT RIB POLYDACTYLY SYNDROME

    Directory of Open Access Journals (Sweden)

    Z Moinfar

    2007-09-01

    Full Text Available Short rib polydactyly syndrome (SRPS is a very rare congenital anomaly that is classified into four subtypes. It is an autosomal recessive inherited disease. We report a case of this syndrome without a previous family history of congenital defects.

  12. Chronic fatigue syndrome

    African Journals Online (AJOL)

    Committee for Science and Education, Medical. Association of South Africa. Objective. To acknowledge the dinical syndrome chronic fatigue syndrome (CFS) and outline the diagnostic criteria and reasonable management. Outcomes. Attempt at containment of treatmentcost and improvement of the quality of care of patients ...

  13. 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.

  14. Bodily Distress Syndrome

    DEFF Research Database (Denmark)

    Budtz-Lilly, Anna; Vestergaard, Mogens; Moth, Grete

    2011-01-01

    AIM: Medically unexplained or functional symptoms and disorders are common in primary care. Empirical research has proposed specific criteria for a new unifying diagnosis for functional disorders and syndromes: Bodily Distress Syndrome (BDS). This new diagnosis is expected to be integrated...

  15. Middle East Respiratory Syndrome

    Centers for Disease Control (CDC) Podcasts

    2014-07-07

    This podcast discusses Middle East Respiratory Syndrome, or MERS, a viral respiratory illness caused by Middle East Respiratory Syndrome Coronavirus—MERS-CoV.  Created: 7/7/2014 by National Center for Immunization and Respiratory Diseases (NCIRD).   Date Released: 7/7/2014.

  16. Barth Syndrome (BTHS)

    Science.gov (United States)

    ... All Disorders Barth Syndrome Information Page Barth Syndrome Information Page What research is being done? The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the ...

  17. The stress ulcer syndrome

    NARCIS (Netherlands)

    H.A. van Essen

    1986-01-01

    textabstractThe stress ulcer syndrome is described in this thesis. This syndrome is seen in patients admitted to intensive care departments or being treated in field hospitals, in disaster areas, or battle fields. Acute mucosal lesions associated with burns (Curling's ulcers) and central nervous

  18. Goldenhar syndrome: ocular features.

    Science.gov (United States)

    Bhallil, S; Benatiya, I; El Abdouni, O; Mahjoubi, B; Hicham, T

    2010-01-01

    Goldenhar syndrome is a rare congenital anomaly which consists of a triad of an ocular dermoid cyst, preauricular skin tags and vertebral dysplasia. We report two cases of Goldenhar syndrome, diagnosed in a 4-year-old girl and in a 20-year-old young adult. The dermoid cyst is a benign tumour with serious ophthalmologic complications.

  19. Apert′s syndrome

    Directory of Open Access Journals (Sweden)

    Mukhopadhyay Amiya

    2004-03-01

    Full Text Available Apert′s syndrome (acrocephalosyndactyly is a rare congenital disorder characterized by craniosynostosis, mid-facial malformations and symmetrical syndactyly. We present a 2-month-old girl having features of Apert′s syndrome, with cerebral cortical atrophy and bifurcation of the right first metatarsal base, a hitherto undescribed finding.

  20. [Moebius syndrome and narcolepsy].

    Science.gov (United States)

    Krämer, S; Goldammer, U; Sindern, E

    2014-12-01

    Moebius syndrome is a rare neurological disease that has a frequent association with parasomnia. We report on a patient with Moebius syndrome and the clinical presentation of a narcolepsy cataplexy syndrome. With the hypoplasia of the brainstem in the cranial magnetic resonance imaging, we were able to show the morphological correlate of Moebius syndrome. Comorbidity was detected by cognitive tests, polysomnography and detection of hypocretin in the cerebrospinal fluid. Despite normal sleep onset latency and only one episode of sleep onset rapid eye movement (REM) in the multiple sleep latency test, where expressiveness is significantly reduced in cases of paralysis of horizontal eye movement, the diagnosis of parasomnia with narcolepsy cataplexy symptoms could be made. The hypocretin level of 132 pg/ml measured in the cerebro spinal fluid is compatible with this diagnosis and shows the relevance of a detailed diagnostic of parasomnia in patients with Moebius syndrome.

  1. [Schizophrenia or Asperger syndrome?].

    Science.gov (United States)

    Da Fonseca, David; Viellard, Marine; Fakra, Eric; Bastard-Rosset, Delphine; Deruelle, Christine; Poinso, François

    2008-09-01

    Patients with Asperger syndrome are often diagnosed late or are wrongly considered to have schizophrenia. Misdiagnosing Asperger syndrome creates serious problems by preventing effective therapy. Several clinical signs described in Asperger syndrome could also be considered as clinical signs of schizophrenia, including impaired social interactions, disabilities in communication, restricted interests, and delusions of persecution. A number of clinical features may facilitate the differential diagnosis: younger age at onset, family history of pervasive developmental disorder, recurring conversations on the same topic, pragmatic aspects of language use, oddities of intonation and pitch, lack of imagination, and incomprehension of social rules are more characteristic of Asperger syndrome. Accurate distinction between Asperger syndrome and schizophrenia would make it possible to offer more treatment appropriate to the patient's functioning.

  2. [Psychopharmacology and metabolic syndrome].

    Science.gov (United States)

    Telles-Correia, Diogo; Guerreiro, Diogo F; Coentre, Ricardo; Coentre, Rui; Góis, C; Figueira, Luísa

    2008-01-01

    Metabolic Syndrome consists in a group of metabolic changes, being the most important problem insulin resistence. Other important components of this syndrome are abdominal obesity, hypertension and hyperlipidemia /hypercholestrolemia. It was demonstrated that psychiatric patients have a greater risk to develop metabolic syndrome with a prevalence of 41%. Prevalence of this syndrome in psychiatric male patients is 138% higher than in general population and in female patients 251% higher. Some of the factors that can explain this increase of metabolic risk in psychiatric patients are psychiatric drugs. We preformed a systematic review of literature published until June, 2007, by means of MEDLINE. Studies reviewed include clinical cases, reviews, analytic and observational studies. We selected 72 articles. Authors pretend to understand the mechanisms, by which, different psychiatric drugs can influence metabolic syndrome, and strategies for prevention of this situation.

  3. Haim-Munk syndrome

    Directory of Open Access Journals (Sweden)

    Pahwa Priyanka

    2010-01-01

    Full Text Available Haim-Munk syndrome is an extremely rare autosomal recessive disorder of keratinization characterized clinically by palmoplantar hyperkeratosis, severe early onset periodontitis, onychogryphosis, pes planus, arachnodactyly, and acro-osteolysis. Recently, germline mutations in the lysosomal protease cathepsin C gene have been identified as the underlying genetic defect in Haim-Munk syndrome and in the clinically related disorders, such as Papillon-Lefθvre syndrome and prepubertal periodontitis. The periodontal disease associated with these syndromes is particularly aggressive and unresponsive to traditional periodontal therapies. As a result, most patients become edentulous by 15 years of age. This case report describes a patient with the cardinal features of Haim-Munk syndrome.

  4. Eisenmenger Syndrome in Pregnancy

    Directory of Open Access Journals (Sweden)

    Shi-Min Yuan

    Full Text Available Abstract Eisenmenger syndrome is very rare in pregnant women. Debates remain concerning the management of Eisenmenger syndrome in this patient population and the prognosis is unclear in terms of maternal and fetoneonatal outcomes. Epidural analgesia is preferred for Cesarean section as it alleviates perioperative pain and reduces the pulmonary and systemic vascular resistances. Maternal mortality in the presence of Eisenmenger syndrome is reported as 30-50% and even up to 65% in those with Cesarean section. The major causes of death could be hypovolemia, thromboembolism and preeclampsia. Pregnancy should ideally be avoided in a woman with Eisenmenger syndrome concerning the high maternal mortality rate and probable poor prognosis of the baby. A short labour and an atraumatic delivery under epidural block are preferred in the women with a strong desire of pregnancy. The purpose of this article is to discuss the debates of Eisenmenger syndrome in pregnancy and the possible resolutions.

  5. Scleroderma overlap syndrome.

    Science.gov (United States)

    Balbir-Gurman, Alexandra; Braun-Moscovici, Yolanda

    2011-01-01

    Overlap syndrome is an entity that satisfies the criteria of at least two connective tissue diseases (CTD). These conditions include systemic sclerosis (SSc), dermatomyositis or polymyositis, Sjogren's syndrome, rheumatoid arthritis and systemic lupus erythematosus. A combined pathology has impact on the clinical features, diagnosis and treatment. To analyze the features of SSc patients with overlap syndrome registered in the European (EUSTAR) database at our center and to review the literature focusing on clinical and diagnostic issues and new treatments. We studied the medical records of 165 consecutive SSc patients and reviewed cases with scleroderma overlap syndrome. A PubMed search for the period 1977 to 2009 was conducted using the key words "overlap syndrome", "systemic sclerosis", "connective tissue disease" and "biological agents." Forty patients satisfied the criteria for scleroderma overlap syndrome. The incidence of additional connective tissue diseases in the whole group and in the overlap syndrome group respectively was: dermatomyositis or polymyositis 11.5% and 47.5%, Sjogren's syndrome 10.3% and 42.5%, rheumatoid arthritis 3.6% and 15.4%, and systemic lupus erythematosus 1.2% and 5.0%. Coexistence of SSc and another CTD aggravated the clinical course, especially lung, kidney, digestive, vascular and articular involvement. Coexisting non-rheumatic complications mimicked SSc complications. An additional rheumatic or non-rheumatic disease affected treatment choice. The definition of scleroderma overlap syndrome is important, especially in patients who need high-dose corticosteroids for complications of a CTD. The use of novel biological therapies may be advocated in these patients to avoid the hazardous influences of high-dose steroids, especially renal crisis. In some overlap syndrome cases, biological agents serve both conditions; in others one of the conditions may limit their use. In the absence of formal clinical trials in these patients a

  6. [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.

  7. Hypereosinophilic syndrome mimicking acute coronary syndrome

    Directory of Open Access Journals (Sweden)

    Pulkit Chhabra

    2017-01-01

    Full Text Available Hypereosinophilic syndrome (HES is a heterogeneous group of disorders with peripheral blood hypereosinophilia and eosinophil-mediated organ involvement. It may be primary, secondary, or idiopathic. In very rare cases, HES can be familial occurring as an autosomal dominant disorder. Cardiac involvement usually presents as heart failure, intracardiac thrombus, arrhythmias, and rarely as acute coronary syndrome (ACS and is a major cause of morbidity and mortality. Cardiac magnetic resonance imaging has emerged as a diagnostic modality in diagnosis of eosinophilic endomyocardial disease. We report a case of a young male with familial HES presenting as ACS and discuss diagnostic and therapeutic clinical management.

  8. Down syndrome, RASopathies, and other rare syndromes.

    Science.gov (United States)

    Kratz, Christian P; Izraeli, Shai

    2017-04-01

    In this article we discuss the occurrence of myeloid neoplasms in patients with a range of syndromes that are due to germline defects of the RAS signaling pathway and in patients with trisomy 21. Both RAS mutations and trisomy 21 are common somatic events contributing to leukemogenis. Thus, the increased leukemia risk observed in children affected by these conditions is biologically highly plausible. Children with myeloid neoplasms in the context of these syndromes require different treatments than children with sporadic myeloid neoplasms and provide an opportunity to study the role of trisomy 21 and RAS signaling during leukemogenesis and development. Copyright © 2017 Elsevier Inc. All rights reserved.

  9. Joubert syndrome: large clinical variability and a unique neuroimaging aspect Síndrome de Joubert: grande variabilidade clínica e uma neuroimagem característica

    Directory of Open Access Journals (Sweden)

    Emília Katiane Embiruçu Leão

    2010-04-01

    Full Text Available Joubert syndrome (JS is an autosomal recessive inherited disorder characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g, pigmentary retinopathy, oculomotor apraxia and nystagmus, renal cysts and hepatic fibrosis. Respiratory abnormalities, as apnea and hyperpnea, may be present, as well as mental retardation. At least seven JS loci have been determined and five genes identified. Herein, we report five children, belonging to independent families, with JS: they shared the same typical MRI abnormality, known as molar tooth sign, but had an otherwise quite variable phenotype, regarding mostly their cognitive performance, visual abilities and extra-neurological compromise.A síndrome de Joubert (SJ é uma doença hereditária, autossômica recessiva, caracterizada por hipotonia, hipoplasia do vermis cerebelar, anormalidades oculares (p.ex., retinite pigmentar, apraxia oculomotora e nistagmo, cistos renais e fibrose hepática. Anormalidades respiratórias tais como apnéia e hiperpnéia podem estar presentes, assim como deficiência mental. Pelo menos sete loci e cinco genes diferentes associados à SJ já foram identificados. Este artigo relata cinco crianças com SJ, pertencentes a diferentes famílias. Todos os pacientes compartilham a mesma anormalidade típica da RM, conhecida como sinal do dente molar, e apresentam ampla variabilidade clínica em relação ao desempenho cognitivo, comprometimento visual e alterações extra-neurológicas.

  10. 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.

  11. Polycystic Ovary Syndrome (For Teens)

    Science.gov (United States)

    ... Help? Talking to Your Parents - or Other Adults Polycystic Ovary Syndrome KidsHealth > For Teens > Polycystic Ovary Syndrome Print A ... en español Síndrome de ovario poliquístico What Is Polycystic Ovary Syndrome? Polycystic (pronounced: pol-ee-SISS-tik) ovary syndrome ( ...

  12. The Source for Syndromes 2.

    Science.gov (United States)

    Richard, Gail J.; Hoge, Debra Reichert

    Designed for practicing speech-language pathologists, this book discusses different lesser-known syndrome disabilities, pertinent speech-language characteristics, and goals and strategies to begin intervention efforts at a preschool level. Chapters address: (1) Apert syndrome; (2) Beckwith-Wiedemann syndrome; (3) CHARGE syndrome; (4) Cri-du-Chat…

  13. [PATHOPHYSIOLOGY OF THE CARDIORENAL SYNDROME].

    Science.gov (United States)

    Balint, I; Vučak, J; Bašić-Marković, N; Klarić, D; Šakić, V Amerl

    2016-12-01

    Cardiorenal syndrome, a complex pathophysiological disorder of both the heart and kidneys, is a condition in which acute or chronic damage to one organ can lead to acute or chronic dysfunction of the other organ. Depending on primary organ dysfunction and disease duration, there are five different types of cardiorenal syndrome. Type 1 cardiorenal syndrome (acute cardiorenal syndrome) is defined as acute kidney injury caused by sudden decrease in heart function. Type 2 cardiorenal syndrome (chronic cardiorenal syndrome) refers to chronic kidney disease linked to chronic heart failure. Type 3 cardiorenal syndrome (acute renocardial syndrome) is caused by acute kidney injury that leads to heart failure. Type 4 cardiorenal syndrome (chronic renocardial syndrome) includes chronic heart failure due to chronic kidney disease. Type 5 cardiorenal syndrome (secondary cardiorenal syndrome) is reversible or irreversible condition marked by simultaneous heart and kidney insufficiency, as a result of multiorgan disease such as sepsis, diabetes mellitus, sarcoidosis, amyloidosis, etc. The pathophysiological patterns of cardiorenal syndrome are extremely complicated. Despite numerous publications, perplexed physiological, biochemical and hormonal disturbances as parts of the main pathogenic mechanisms of cardiorenal syndrome remain obscure. Even though there are guidelines for the treatment of patients with heart failure and chronic kidney disease, similar guidelines for the treatment of cardiorenal syndrome are lacking. In everyday practice, it is crucial to diagnose cardiorenal syndrome and use all diagnostic and therapeutic procedures available to prevent or alleviate kidney and heart failure.

  14. A case of goldenhar's syndrome

    OpenAIRE

    Atabey, A.; Barutçu, A.

    1992-01-01

    Goldenhar's syndrome (Goldenhar-Gorlin syndrome, facioauricuiovertebral sequence, oculoauriculoverteb- ral dysplasia) is a variant of craniofacial microsomia (first and second branchial arch syndrome). It is generally characterized by epibulbar dermoids and/or lipo- dermoids, pretragal blinded fistulas, skin tags on the cheek and vertebral anomalies. A 24-year-old female patient with Goldenhar's syndrome was presented in this paper.

  15. 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.

  16. 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.

  17. 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.

  18. Personality and metabolic syndrome.

    Science.gov (United States)

    Sutin, Angelina R; Costa, Paul T; Uda, Manuela; Ferrucci, Luigi; Schlessinger, David; Terracciano, Antonio

    2010-12-01

    The prevalence of metabolic syndrome has paralleled the sharp increase in obesity. Given its tremendous physical, emotional, and financial burden, it is of critical importance to identify who is most at risk and the potential points of intervention. Psychological traits, in addition to physiological and social risk factors, may contribute to metabolic syndrome. The objective of the present research is to test whether personality traits are associated with metabolic syndrome in a large community sample. Participants (N = 5,662) from Sardinia, Italy, completed a comprehensive personality questionnaire, the NEO-PI-R, and were assessed on all components of metabolic syndrome (waist circumference, triglycerides, high-density lipoprotein cholesterol, blood pressure, and fasting glucose). Logistic regressions were used to predict metabolic syndrome from personality traits, controlling for age, sex, education, and current smoking status. Among adults over age 45 (n = 2,419), Neuroticism and low Agreeableness were associated with metabolic syndrome, whereas high Conscientiousness was protective. Individuals who scored in the top 10% on Conscientiousness were approximately 40% less likely to have metabolic syndrome (OR = 0.61, 95% CI = 0.41-0.92), whereas those who scored in the lowest 10% on Agreeableness were 50% more likely to have it (OR = 1.53, 95% CI = 1.09-2.16). At the facet level, traits related to impulsivity and hostility were the most strongly associated with metabolic syndrome. The present research indicates that those with fewer psychological resources are more vulnerable to metabolic syndrome and suggests a psychological component to other established risk factors.

  19. Paraneoplastic endocrine syndromes.

    Science.gov (United States)

    Dimitriadis, Georgios K; Angelousi, Anna; Weickert, Martin O; Randeva, Harpal S; Kaltsas, Gregory; Grossman, Ashley

    2017-06-01

    The majority of neoplasms are responsible for symptoms caused by mass effects to surrounding tissues and/or through the development of metastases. However, occasionally neoplasms, with or without endocrine differentiation, acquire the ability to secrete a variety of bioactive substances or induce immune cross-reactivity with the normal tissues that can lead to the development of characteristic clinical syndromes. These syndromes are named endocrine paraneoplastic syndromes when the specific secretory components (hormones, peptides or cytokines) are unrelated to the anticipated tissue or organ of origin. Endocrine paraneoplastic syndromes can complicate the patient's clinical course, response to treatment, impact prognosis and even be confused as metastatic spread. These syndromes can precede, occur concomitantly or present at a later stage of tumour development, and along with the secreted substances constitute the biological 'fingerprint' of the tumour. Their detection can facilitate early diagnosis of the underlying neoplasia, monitor response to treatment and/or detect early recurrences following successful initial management. Although when associated with tumours of low malignant potential they usually do not affect long-term outcome, in cases of highly malignant tumours, endocrine paraneoplastic syndromes are usually associated with poorer survival outcomes. Recent medical advances have not only improved our understanding of paraneoplastic syndrome pathogenesis in general but also enhanced their diagnosis and treatment. Yet, given the rarity of endocrine paraneoplastic syndromes, there is a paucity of prospective clinical trials to guide management. The development of well-designed prospective multicentre trials remains a priority in the field in order to fully characterise these syndromes and provide evidence-based diagnostic and therapeutic protocols. © 2017 Society for Endocrinology.

  20. Genetics of Polycystic Ovary Syndrome

    OpenAIRE

    Prapas, N; Karkanaki, A; Prapas, I; Kalogiannidis, I; Katsikis, I; Panidis, D

    2009-01-01

    Polycystic ovary syndrome (PCOS) is a syndrome involving defects in primary cellular control mechanisms that result in the expression of chronic anovulation and hyperandrogenism. This syndrome has been for many years one of the most controversial entities in gynecological endocrinology. Polycystic ovary syndrome has been proven to be a familial condition. Although the role of genetic factors in PCOS is strongly supported, the genes that are involved in the etiology of the syndrome have not be...