Dysregulated autophagy contributes to podocyte damage in Fabry's disease.

Directory of Open Access Journals (Sweden)

Max C Liebau

Full Text Available Fabry's disease results from an inborn error of glycosphingolipid metabolism that is due to deficiency of the lysosomal hydrolase α-galactosidase A. This X-linked defect results in the accumulation of enzyme substrates with terminally α-glycosidically bound galactose, mainly the neutral glycosphingolipid Globotriaosylceramide (Gb3 in various tissues, including the kidneys. Although end-stage renal disease is one of the most common causes of death in hemizygous males with Fabry's disease, the pathophysiology leading to proteinuria, hematuria, hypertension, and kidney failure is not well understood. Histological studies suggest that the accumulation of Gb3 in podocytes plays an important role in the pathogenesis of glomerular damage. However, due to the lack of appropriate animal or cellular models, podocyte damage in Fabry's disease could not be directly studied yet. As murine models are insufficient, a human model is needed. Here, we developed a human podocyte model of Fabry's disease by combining RNA interference technology with lentiviral transduction of human podocytes. Knockdown of α-galactosidase A expression resulted in diminished enzymatic activity and slowly progressive accumulation of intracellular Gb3. Interestingly, these changes were accompanied by an increase in autophagosomes as indicated by an increased abundance of LC3-II and a loss of mTOR kinase activity, a negative regulator of the autophagic machinery. These data suggest that dysregulated autophagy in α-galactosidase A-deficient podocytes may be the result of deficient mTOR kinase activity. This finding links the lysosomal enzymatic defect in Fabry's disease to deregulated autophagy pathways and provides a promising new direction for further studies on the pathomechanism of glomerular injury in Fabry patients.

The Prevalence of Fabry Disease in Patients with Chronic Kidney Disease in Turkey: The TURKFAB Study

Directory of Open Access Journals (Sweden)

Kultigin Turkmen

2016-12-01

Full Text Available Background/Aims: Fabry disease is a treatable cause of chronic kidney disease (CKD characterized by a genetic deficiency of α-galactosidase A. European Renal Best Practice (ERBP recommends screening for Fabry disease in CKD patients. However, this is based on expert opinion and there are no reports of the prevalence of Fabry disease in stage 1-5 CKD. Hence, we investigated the prevalence of Fabry disease in CKD patients not receiving renal replacement therapy. Methods: This prospective study assessed α-galactosidase activity in dried blood spots in 313 stage 1-5 CKD patients, 167 males, between ages of 18-70 years whose etiology of CKD was unknown and were not receiving renal replacement therapy. The diagnosis was confirmed by GLA gene mutation analysis. Results: Three (all males of 313 CKD patients (0.95% were diagnosed of Fabry disease, for a prevalence in males of 1.80%. Family screening identified 8 aditional Fabry patients with CKD. Of a total of 11 Fabry patients, 7 were male and started enzyme replacement therapy and 4 were female. The most frequent manifestations in male patients were fatigue (100%, tinnitus, vertigo, acroparesthesia, hypohidrosis, cornea verticillata and angiokeratoma (all 85%, heat intolerance (71%, and abdominal pain (57%. The most frequent manifestations in female patients were fatigue and cornea verticillata (50%, and tinnitus, vertigo and angiokeratoma (25%. Three patients had severe episodic abdominal pain attacks and proteinuria, and were misdiagnosed as familial Mediterranean fever. Conclusions: The prevalence of Fabry disease in selected CKD patients is in the range found among renal replacement therapy patients, but the disease is diagnosed at an earlier, treatable stage. These data support the ERBP recommendation to screen for Fabry disease in patients with CKD of unknown origin.

Avascular necrosis of bilateral femoral heads in a patient with Fabry's disease.

LENUS (Irish Health Repository)

O'Neill, Francis

2012-07-13

The underlying cause of avascular necrosis (AVN) of the femoral head is often not apparent. We report the case of a 26 year old builder with a four month history of bilateral hip pain, and a diagnosis of bilateral femoral head avascular necrosis. Fabry\\'s disease was identified as the probable cause. Since 2001, enzyme replacement therapy for Fabry\\'s disease has become available, with a potential to influence the disease process, and this is of potential importance to clinicians treating AVN.

[Skin and chronic kidney disease].

Science.gov (United States)

Rizzo, Raffaella; Mancini, Elena; Santoro, Antonio

2014-01-01

Kidneys and skin are seldom considered associated, but their relationship is more closer than generally believed. In some immunological diseases (SLE...) and genetic syndromes (tuberous sclerosis, Fabrys disease...) the cutaneous manifestations are integral parts of the clinical picture. In advanced uremia, besides the well-known itching skin lesions, calciphylaxis may appear, a typical example of cutaneous involvement secondary to the metabolic complications (calcium-phosphate imbalance) of the renal disease. Nephrogenic systemic fibrosis appears only in patients with renal failure and it has a very severe prognosis due to the systemic organ involvement. Moreover, there is a heterogeneous group of metabolic diseases, with renal involvement, that may be accompanied by skin lesions, either related to the disease itself or to its complications (diabetes mellitus, porphyrias). In systemic amyloidosis, fibrils may deposit even in dermis leading to different skin lesions. In some heroin abusers, in the presence of suppurative lesions in the sites of needle insertion, renal amyloidosis should be suspected, secondary to the chronic inflammation. Atheroembolic disease is nowadays frequently observed, as a consequence of the increasing number of invasive intravascular manoeuvres. Skin manifestations like livedo reticularis or the blue toe syndrome are the most typical signs, but often renal dysfunction is also present. In all these conditions, the skin lesion may be a first sign, a warning, that should arouse the suspicion of a more complex pathology, even with renal involvement. Being aware of this relationship is fundamental to accelerate the diagnostic process.

Fabry disease and early stroke

DEFF Research Database (Denmark)

Feldt-Rasmussen, U

2011-01-01

Fabry disease, an X-linked lysosomal storage disorder, results from deficient activity of the enzyme a-galactosidase A. Affected males with the classic phoenotype have acroparaesthesias, hypohidrosis, and corneal opacities in childhood and develop renal failure, cardiac hypertrophy or strokes in ...

Fabry disease and early stroke

DEFF Research Database (Denmark)

Feldt-Rasmussen, U

2011-01-01

Fabry disease, an X-linked lysosomal storage disorder, results from deficient activity of the enzyme α-galactosidase A. Affected males with the classic phoenotype have acroparaesthesias, hypohidrosis, and corneal opacities in childhood and develop renal failure, cardiac hypertrophy or strokes in ...

FabryScan: a screening tool for early detection of Fabry disease

NARCIS (Netherlands)

Arning, Kathrin; Naleschinski, Dennis; Maag, Rainer; Biegstraaten, Marieke; Kropp, Peter; Lorenzen, Jürgen; Hollak, Carla E. M.; van Schaik, Ivo N.; Harten, Pontus; Zeuner, Rainald A.; Binder, Andreas; Baron, Ralf

2012-01-01

Fabry disease, an X-linked lipid storage disorder, is associated early morbidity and mortality. Since enzyme replacement therapy is available, accurate detection of unrecognized cases is important. Characteristic early symptoms are recurrent episodes of burning and lancinating pain in the distal

Response of women with Fabry disease to enzyme replacement therapy: comparison with men, using data from FOS--the Fabry Outcome Survey

NARCIS (Netherlands)

Hughes, Derralynn A.; Barba Romero, Miguel-Ángel; Hollak, Carla E. M.; Giugliani, Roberto; Deegan, Patrick B.

2011-01-01

Fabry disease (α-galactosidase A deficiency) is an X-linked disorder. Women who are heterozygous for disease-causing mutations often manifest signs and symptoms of Fabry disease, but most studies of the effects of enzyme replacement therapy (ERT) have included only men. To date, no direct comparison

Screening Fabry's disease in chronic kidney disease patients not on dialysis: a multicenter study.

Science.gov (United States)

Yeniçerioğlu, Yavuz; Akdam, Hakan; Dursun, Belda; Alp, Alper; Sağlam Eyiler, Funda; Akın, Davut; Gün, Yelda; Hüddam, Bülent; Batmazoğlu, Mehmet; Gibyeli Genek, Dilek; Pirinççi, Serhat; Ersoy, İsmail Rıfkı; Üzüm, Atilla; Soypaçacı, Zeki; Tanrısev, Mehmet; Çolak, Hülya; Demiral Sezer, Sibel; Bozkurt, Gökay; Akyıldız, Utku Oğan; Akyüz Ünsal, Ayşe İpek; Ünübol, Mustafa; Uslu, Meltem; Eryılmaz, Ufuk; Günel, Ceren; Meteoğlu, İbrahim; Yavaşoğlu, İrfan; Ünsal, Alparslan; Akar, Harun; Okyay, Pınar

2017-11-01

Fabry's disease is an X-linked inherited, rare, progressive, lysosomal storage disorder, affecting multiple organs due to the deficient activity of α-galactosidase A (α-Gal A) enzyme. The prevalence has been reported to be 0.15-1% in hemodialysis patients; however, the information on the prevalence in chronic kidney disease not on dialysis is lacking. This study aimed to determine the prevalence of Fabry's disease in chronic kidney disease. The patients older than 18 years, enclosing KDIGO 2012 chronic kidney disease definitions, not on dialysis, were enrolled. Dried blood spots on Guthrie papers were used to analyze α-Gal A enzyme and genetic analysis was performed in individuals with enzyme activity ≤1.2 μmol/L/h. A total of 1453 chronic kidney disease patients not on dialysis from seven clinics in Turkey were screened. The mean age of the study population was 59.3 ± 15.9 years. 45.6% of patients were female. The creatinine clearance of 77.3% of patients was below 60 mL/min/1.73 m 2 , 8.4% had proteinuria, and 2.5% had isolated microscopic hematuria. The mean value of patients' α-Gal A enzyme was detected as 2.93 ± 1.92 μmol/L/h. 152 patients had low levels of α-Gal A enzyme activity (≤1.2 μmol/L/h). In mutation analysis, A143T and D313Y variants were disclosed in three male patients. The prevalence of Fabry's disease in chronic kidney disease not on dialysis was found to be 0.2% (0.4% in male, 0.0% in female). Fabry's disease should be considered in the differential diagnosis of chronic kidney disease with unknown etiology even in the absence of symptoms and signs suggestive of Fabry's disease.

Elevated globotriaosylsphingosine is a hallmark of Fabry disease

NARCIS (Netherlands)

Aerts, Johannes M.; Groener, Johanna E.; Kuiper, Sijmen; Donker-Koopman, Wilma E.; Strijland, Anneke; Ottenhoff, Roelof; van Roomen, Cindy; Mirzaian, Mina; Wijburg, Frits A.; Linthorst, Gabor E.; Vedder, Anouk C.; Rombach, Saskia M.; Cox-Brinkman, Josanne; Somerharju, Pentti; Boot, Rolf G.; Hollak, Carla E.; Brady, Roscoe O.; Poorthuis, Ben J.

2008-01-01

Fabry disease is an X-linked lysosomal storage disease caused by deficiency of alpha-galactosidase A that affects males and shows disease expression in heterozygotes. The characteristic progressive renal insufficiency, cardiac involvement, and neuropathology usually are ascribed to

Fabry disease in light of recent review

International Nuclear Information System (INIS)

Uyama, Eiichiro

2008-01-01

Fabry disease is a lysosomal storage disorder that is caused by mutations in the gene encoding α-galactosidase A on Xq22.1. Typically hemizygous male patients exhibit classic phenotypes such as angiokeratoma, acroparesthesias, episodic pain ''crises,'' hypohidrosis, and whorl-shaped corneal opacities from childhood. However, during adulthood, they gradually develop kidney failure, heart disease, and strokes resulting in early death between 40 to 50 years of age. However, recent studies have indicated a high prevalence of disabling clinical symptoms in heterozygous females patients. Patients having the cardiac variant of Fabry's disease exhibit only left ventricular hypertrophy, while patients having the renal variant exhibit only kidney failure. Individuals affected by these variants show higher residual enzyme activity of α-galactosidase A than individuals affected by the classic form of Fabry's disease due to missense mutations of the GLA gene. The cerebrovascular involvement in Fabry disease is not rare in both adult hemizygotes and heterozygotes. Infarctions caused by the occlusions of small vessels involving mostly the vertebrobasilar region in approximately two-thirds of the cases, and that is associated with the deposition glycosphingolipids including GL-3 in the walls of these vessels. In Caucasian patients, elongated, ectatic, and tortuous vertebral and basilar arteries are frequently observed on MR angiography (MRA)s. Life-threatening megadolichobasilar anomaly with thrombosis has been identified in a large Hungarian family in which the family members share L16P mutation. On performing MRI, an increased signal intensity was observed in the pulvinar in T 1 -weighted images; this is the characteristic so-called ''pulvinar sign''. Enzyme replacement therapy has been approved in Japan since 2004 and 2007 for agalsidase β and agalsidase α, respectively. This treatment modestly improves the small-fiber neuropathy, hypohidrosis, hypertrophic cardiomyopathy

Cochleovestibular Manifestations in Fabry Disease

Directory of Open Access Journals (Sweden)

Alberto Ciceran MD

2016-09-01

Full Text Available Fabry disease is a rare, X-linked lysosomal storage disorder resulting from deficient α-galactosidase A activity and globotriaosylceramide accumulation throughout the body. This accumulation leads to various clinical disorders, including inner ear lesions, with sensorineural hearing loss and dizziness. Although hearing loss is recognized in these patients, its incidence and natural history have not been characterized. Hearing disorders develop mainly in adulthood, and tinnitus may be an earlier symptom in Fabry disease. A significant incidence of mid- and high-frequency sensorineural hearing loss in affected males is commonly reported, whereas in female carriers, it is much less frequent. In addition, a high incidence of vestibular disorders with dizziness and chronic instability is also observed in these patients. The few studies about the effects of enzyme replacement therapy (ERT on cochleovestibular symptoms show controversial results. Based on the model of densely stained material accumulation in the inner ear, stria vascularis cell, and organ damage, an early indication of ERT may prevent hearing loss due to the reduction in substrate accumulation.

Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women

DEFF Research Database (Denmark)

Havndrup, Ole; Christiansen, Michael; Stoevring, Birgitte

2010-01-01

AIMS: Fabry disease, an X-linked storage disorder caused by defective lysosomal enzyme alpha-galactosidase A activity, may resemble sarcomere-gene-associated hypertrophic cardiomyopathy (HCM). The 'cardiac variant' of Fabry disease which only affects the heart may be missed unless specifically te...... therapy, supports systematic testing for Fabry disease. Enzyme measurements are sufficient in men, but genetic testing is needed in women....

Lipid profile in adult patients with Fabry disease - Ten-year follow up

Directory of Open Access Journals (Sweden)

Karolina M. Stepien

2017-12-01

Conclusion: Adult patients with Fabry disease have remarkably elevated HDL-cholesterol and as a result, elevated total cholesterol. It is possible that elevated HDL-cholesterol has a cardioprotective effect in patients with this condition. Long term ERT does not have a significant impact on lipid profile in female and male population with Fabry disease.

Early Renal Involvement in a Girl with Classic Fabry Disease.

Science.gov (United States)

Perretta, Fernando; Antongiovanni, Norberto; Jaurretche, Sebastián

2017-01-01

Fabry disease is an X-linked lysosomal storage disorder resulting from the deficiency or absence of the enzyme alpha galactosidase A; this defect leads to the systemic accumulation of globotriaosylceramide and its metabolites. Organic involvement in men is well known, but in women it is controversial, mainly due to the random X-chromosome inactivation in each of their cells (Lyon hypothesis). This would explain why women (heterozygotes) present a wide variability in the severity of their phenotype. The manifestations are multisystemic and begin in early childhood, reaching a severe compromise in adulthood. Typical acroparesthesia in hands and feet, gastrointestinal symptoms, angiokeratomas, dyshidrosis, hearing loss, arrhythmias, hypertrophic cardiomyopathy, cerebrovascular accidents, and renal failure can be observed. Nephropathy is one of the major complications of Fabry disease. Glomerular and vascular changes are present before progression to overt proteinuria and decreased glomerular filtration rate, even in pediatric patients. A case of incipient renal involvement in a girl with classic Fabry disease is reported.

Three-dimensional face shape in Fabry disease

NARCIS (Netherlands)

Cox-Brinkman, Josanne; Vedder, Anouk; Hollak, Carla; Richfield, Linda; Mehta, Atul; Orteu, Kate; Wijburg, Frits; Hammond, Peter

2007-01-01

Facial dysmorphology is an important feature in several lysosomal storage disorders. Although in Fabry disease facial dysmorphism is not a prominent sign, minor facial abnormalities have been previously reported. By analysing three-dimensional images of faces, we quantified facial dysmorphology in a

Fabry disease, respiratory symptoms, and airway limitation

DEFF Research Database (Denmark)

Svensson, Camilla Kara; Feldt-Rasmussen, Ulla; Backer, Vibeke

2015-01-01

. The remaining 27 articles were relevant for this review. RESULTS: The current literature concerning lung manifestations describes various respiratory symptoms such as dyspnoea or shortness of breath, wheezing, and dry cough. These symptoms are often related to cardiac involvement in Fabry disease as respiratory...

Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment.

Science.gov (United States)

Politei, Juan M; Bouhassira, Didier; Germain, Dominique P; Goizet, Cyril; Guerrero-Sola, Antonio; Hilz, Max J; Hutton, Elspeth J; Karaa, Amel; Liguori, Rocco; Üçeyler, Nurcan; Zeltzer, Lonnie K; Burlina, Alessandro

2016-07-01

Patients with Fabry disease (FD) characteristically develop peripheral neuropathy at an early age, with pain being a crucial symptom of underlying pathology. However, the diagnosis of pain is challenging due to the heterogeneous and nonspecific symptoms. Practical guidance on the diagnosis and management of pain in FD is needed. In 2014, experts met to discuss recent advances on this topic and update clinical guidance. Emerging disease-specific tools, including FabryScan, Fabry-specific Pediatric Health and Pain Questionnaire, and Würzburg Fabry Pain Questionnaire, and more general tools like the Total Symptom Score can aid diagnosis, characterization, and monitoring of pain in patients with FD. These tools can be complemented by more objective and quantifiable sensory testing. In male and female patients of any age, pain related to FD can be an early indication to start disease-specific enzyme replacement therapy before potentially irreversible organ damage to the kidneys, heart, or brain occurs. To improve treatment outcomes, pain should be diagnosed early in unrecognized or newly identified FD patients. Treatment should include: (a) enzyme replacement therapy controlling the progression of underlying pathology; (b) adjunctive, symptomatic pain management with analgesics for chronic neuropathic and acute nociceptive, and inflammatory or mixed pain; and (c) lifestyle modifications. © 2016 The Authors. CNS Neuroscience & Therapeutics published by John Wiley & Sons Ltd.

Time of Anderson-Fabry Disease Detection and Cardiovascular Presentation

Directory of Open Access Journals (Sweden)

K. Selthofer-Relatic

2018-01-01

Full Text Available Background. Anderson-Fabry disease is an X-linked inherited disease, which manifests in a different manner depending on gender and genotype. Making a working diagnosis of Anderson-Fabry disease is difficult because of several reasons: (a that it is a multiorgan disease with wide variety of phenotypes, (b different timelines of presentation, (c gender differences, and (d possible coexistence with other comorbidities. Late-onset/cardiac type of presentation with minimal involvement of other organs can additionally make diagnosis difficult. Aim. To describe different cardiac manifestations at different time points in the course of the disease: (1 72-year-old female (echocardiography detection, heterozygote, significant left and mild right ventricular hypertrophy; (2 62-year-old male (echocardiography detection, hemizygote, left ventricular hypertrophy, implanted cardiac pacemaker, a performed percutaneous coronary intervention after myocardial infarction, degenerative medium degree aortic valve stenosis; (3 45-year-old female (asymptomatic/family screening, heterozygote, thickened mitral papillary muscle, mild left ventricular hypertrophy, first degree diastolic dysfunction; and (4 75-year-old female (symptomatic/family screening, heterozygote, cardiomyopathy with reduced left ventricular ejection fraction after heart surgery (mitral valve annuloplasty and plastic repair of the tricuspid valve. Conclusion. All patients have Anderson-Fabry disease but with different clinical presentations depending on the gender, the type of mutation, and the time of detection. All these features can make the patients’ profiles unique and delay the time of detection.

Functional and structural nerve fiber findings in heterozygote patients with Fabry disease

DEFF Research Database (Denmark)

Torvin, Moller A.; Winther, Bach F.; Feldt-Rasmussen, U.

2009-01-01

recently disease manifestations in female carriers of Fabry disease have been questioned. To explore the frequency of symptoms and the functional and structural involvement of the nervous system in female patients we examined the presence of pain, manifestations of peripheral neuropathy and nerve density......Fabry disease is an X-linked inherited lysosomal disorder with dysfunction of the lysosomal enzyme alpha-galactosidase A causing accumulation of glycolipids in multiple organs including the nervous system. Pain and somatosensory disturbances are prominent manifestations of this disease. Until...

Cardiac involvement in genotype-positive Fabry disease patients assessed by cardiovascular MR.

Science.gov (United States)

Kozor, Rebecca; Grieve, Stuart M; Tchan, Michel C; Callaghan, Fraser; Hamilton-Craig, Christian; Denaro, Charles; Moon, James C; Figtree, Gemma A

2016-02-15

Cardiac magnetic resonance (CMR) has the potential to provide early detection of cardiac involvement in Fabry disease. We aimed to gain further insight into this by assessing a cohort of Fabry patients using CMR. Fifty genotype-positive Fabry subjects (age 45±2 years; 50% male) referred for CMR and 39 matched controls (age 40±2 years; 59% male) were recruited. Patients had a mean Mainz severity score index of 15±2 (range 0-46), reflecting an overall mild degree of disease severity. Compared with controls, Fabry subjects had a 34% greater left ventricular mass (LVM) index (82±5 vs 61±2 g/m(2), p=0.001) and had a significantly greater papillary muscle contribution to total LVM (13±1 vs 6±0.5%, pgadolinium enhancement (LGE) was present in 15 Fabry subjects (9/21 males and 6/23 females). The most common site for LGE was the basal inferolateral wall (93%, 14/15). There was a positive association between LVM index and LGE. Despite this, there were two males and three females with no LVH that displayed LGE. Of Fabry subjects who were not on enzyme replacement therapy at enrolment (n=28), six were reclassified as having cardiac involvement (four LVH-negative/LGE-positive, one LVH-positive/LGE-positive and one LVH-positive/LGE-negative). CMR was able to detect cardiac involvement in 48% of this Fabry cohort, despite the overall mild disease phenotype of the cohort. Of those not on ERT, 21% were reclassified as having cardiac involvement allowing improved risk stratification and targeting of therapy. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

Contribution of inflammatory pathways to Fabry disease pathogenesis.

Science.gov (United States)

Rozenfeld, Paula; Feriozzi, Sandro

2017-11-01

Lysosomal storage diseases are usually considered to be pathologies in which the passive deposition of unwanted materials leads to functional changes in lysosomes. Lysosomal deposition of unmetabolized glycolipid substrates stimulates the activation of pathogenic cascades, including immunological processes, and particularly the activation of inflammation. In lysosomal storage diseases, the inflammatory response is continuously being activated because the stimulus cannot be eliminated. Consequently, inflammation becomes a chronic process. Lysosomes play a role in many steps of the immune response. Leukocyte perturbation and over-expression of immune molecules have been reported in Fabry disease. Innate immunity is activated by signals originating from dendritic cells via interactions between toll-like receptors and globotriaosylceramide (Gb3) and/or globotriaosylsphingosine (lyso-Gb3). Evidence indicates that these glycolipids can activate toll-like receptors, thus triggering inflammation and fibrosis cascades. In the kidney, Gb3 deposition is associated with the increased release of transforming growth factor beta and with epithelial-to-mesenchymal cell transition, leading to the over-expression of pro-fibrotic molecules and to renal fibrosis. Interstitial fibrosis is also a typical feature of heart involvement in Fabry disease. Endomyocardial biopsies show infiltration of lymphocytes and macrophages, suggesting a role for inflammation in causing tissue damage. Inflammation is present in all tissues and may be associated with other potentially pathologic processes such as apoptosis, impaired autophagy, and increases in pro-oxidative molecules, which could all contribute synergistically to tissue damage. In Fabry disease, the activation of chronic inflammation over time leads to organ damage. Therefore, enzyme replacement therapy must be started early, before this process becomes irreversible. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights

Hearing loss in children with Fabry disease

NARCIS (Netherlands)

Suntjens, E.; Dreschler, W. A.; Hess-Erga, J.; Skrunes, R.; Wijburg, F. A.; Linthorst, G. E.; Tøndel, C.; Biegstraaten, M.

2017-01-01

Background Hearing loss (HL) is a well-known feature of Fabry disease (FD). Its presence and characteristics have mainly been studied in adult patients, while only limited data are available on the presence and degree of HL in children with FD. This prompted us to study hearing sensitivity in

Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry.

Science.gov (United States)

Auray-Blais, Christiane; Blais, Catherine-Marie; Ramaswami, Uma; Boutin, Michel; Germain, Dominique P; Dyack, Sarah; Bodamer, Olaf; Pintos-Morell, Guillem; Clarke, Joe T R; Bichet, Daniel G; Warnock, David G; Echevarria, Lucia; West, Michael L; Lavoie, Pamela

2015-01-01

Fabry disease is an X-linked lysosomal storage disorder affecting both males and females with tremendous genotypic/phenotypic variability. Concentrations of globotriaosylceramide (Gb3), globotriaosylsphingosine (lyso-Gb3)/related analogues were investigated in pediatric and adult Fabry cohorts. The aims of this study were to transfer and validate an HPLC-MS/MS methodology on a UPLC-MS/MS new generation platform, using an HPLC column, for urine analysis of treated and untreated pediatric and adult Fabry patients, to establish correlations between the excretion of Fabry biomarkers with gender, treatment, types of mutations, and to evaluate the biomarker reliability for early detection of pediatric Fabry patients. A UPLC-MS/MS was used for biomarker analysis. Reference values are presented for all biomarkers. Results show that gender strongly influences the excretion of each biomarker in the pediatric Fabry cohort, with females having lower urinary levels of all biomarkers. Urinary distribution of lyso-Gb3/related analogues in treated Fabry males was similar to the untreated and treated Fabry female groups in both children and adult cohorts. Children with the late-onset p.N215S mutation had normal urinary levels of Gb3, and lyso-Gb3 but abnormal levels of related analogues. In this study, Fabry males and most Fabry females would have been diagnosed using the urinary lyso-Gb3/related analogue profile. Copyright © 2014 Elsevier B.V. All rights reserved.

High-Sensitivity Troponin: A Clinical Blood Biomarker for Staging Cardiomyopathy in Fabry Disease.

Science.gov (United States)

Seydelmann, Nora; Liu, Dan; Krämer, Johannes; Drechsler, Christiane; Hu, Kai; Nordbeck, Peter; Schneider, Andreas; Störk, Stefan; Bijnens, Bart; Ertl, Georg; Wanner, Christoph; Weidemann, Frank

2016-05-31

High-sensitivity troponin (hs-TNT), a biomarker of myocardial damage, might be useful for assessing fibrosis in Fabry cardiomyopathy. We performed a prospective analysis of hs-TNT as a biomarker for myocardial changes in Fabry patients and a retrospective longitudinal follow-up study to assess longitudinal hs-TNT changes relative to fibrosis and cardiomyopathy progression. For the prospective analysis, hs-TNT from 75 consecutive patients with genetically confirmed Fabry disease was analyzed relative to typical Fabry-associated echocardiographic findings and total myocardial fibrosis as measured by late gadolinium enhancement (LE) on magnetic resonance imaging. Longitudinal data (3.9±2.0 years), including hs-TNT, LE, and echocardiographic findings from 58 Fabry patients, were retrospectively collected. Hs-TNT level positively correlated with LE (linear correlation coefficient, 0.72; odds ratio, 32.81 [95% CI, 3.56-302.59]; P=0.002); patients with elevated baseline hs-TNT (>14 ng/L) showed significantly increased LE (median: baseline, 1.9 [1.1-3.3] %; follow-up, 3.2 [2.3-4.9] %; PFabry disease and a qualified predictor of cardiomyopathy progression. Thus, hs-TNT could be helpful for staging and follow-up of Fabry patients. © 2016 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley Blackwell.

Enzyme replacement therapy in Fabry disease, towards individualized treatment

NARCIS (Netherlands)

Arends, M.

2017-01-01

Fabry disease is a very heterogeneous disorder for which expensive enzyme replacement therapy is available since more than 15 years. Because of the variety of symptoms and disease course, individual choices need to be made to improve the appropriate use of therapy. Supported by ZONWM, we have been

The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease

DEFF Research Database (Denmark)

Hasholt, Lis; Ballegaard, Martin; Bundgaard, Henning

2017-01-01

Fabry disease is an X- linked inherited lysosomal storage disease caused by mutations in the GLA gene encoding the lysosomal enzyme alpha-galactosidase A (α-Gal A). The possible pathological significance of the D313Y variant in the GLA gene has not been verified and it may be a Fabry variant. Our......, and the presence in Fabry females did not significantly enhance the phenotype of a known causative mutation in the GLA gene (G271S). Our findings indicate that the D313Y variant is not causative to nor enhancing Fabry disease phenotype. The D313Y variant in the GLA gene was not disease causative in 2 Danish...... families. Investigating male family members were crucial in excluding the Fabry phenotype, and thus very important for proper genetic counceling of all family members, as well as overdiagnosing a devastating genetic disease....

Small-fibre neuropathy in female Fabry patients: reduced allodynia and skin blood flow after topical capsaicin

DEFF Research Database (Denmark)

Møller, Anette Torvin; Feldt-Rasmussen, Ulla; Rasmussen, Åse K.

2006-01-01

affected. Recently, attention has been drawn to female patients whether they also show signs of nerve involvement. An early sign of the disease is painful small-fibre neuropathy. The aim of this study was to evaluate a small-fibre dysfunction in female Fabry patients by using capsaicin applied topically......Fabry disease is a rare X-linked lysosomal storage disorder. The mutations result in a deficiency of the lysosomal enzyme α-galactosidase A causing accumulation of glycosphingolipids in the vascular endothelial cells and many other tissues. Given the X-linked inheritance, male patients are severely....... The response to capsaicin was evaluated by laser Doppler imaging. We found that the female Fabry patients had a significantly smaller increase in blood flow (p = 0.0003) after capsaicin application. The area of static mechanical allodynia and dynamic mechanical hyperalgesia was also significantly smaller (p...

Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat

DEFF Research Database (Denmark)

Germain, Dominique P; Hughes, Derralynn A; Nicholls, Kathleen

2016-01-01

BACKGROUND: Fabry's disease, an X-linked disorder of lysosomal α-galactosidase deficiency, leads to substrate accumulation in multiple organs. Migalastat, an oral pharmacologic chaperone, stabilizes specific mutant forms of α-galactosidase, increasing enzyme trafficking to lysosomes. METHODS: The...

Alpha..galactosidase A deficiency (Fabry's disease) in a black ...

African Journals Online (AJOL)

thelial, peri-epithelial and smooth-muscle cells of the cardiovascular .... nately it has not been possible to investigate the mother or sisters of ... E. P. Thomas for the use .... rience in renal transplantation for Fabry's disease Tramplam Proc. 1981 ...

Fabry's Disease: Case Series and Review of Literature | Wani ...

African Journals Online (AJOL)

Fabry's disease is an X‑linked lysosomal storage disorder caused by a deficiency of alpha‑galactosidase A enzyme with the progressive accumulation of globotriaosylceramide in vascular endothelial cells leading to cardiovascular, renal, gastrointestinal, neuropathic, lenticular, and dermatological manifestations. It is a rare ...

Fabry Disease in Families With Hypertrophic Cardiomyopathy

DEFF Research Database (Denmark)

Adalsteinsdottir, Berglind; Palsson, Runolfur; Desnick, Robert J

2017-01-01

BACKGROUND: The screening of Icelandic patients clinically diagnosed with hypertrophic cardiomyopathy resulted in identification of 8 individuals from 2 families with X-linked Fabry disease (FD) caused by GLA(α-galactosidase A gene) mutations encoding p.D322E (family A) or p.I232T (family B...... asymmetrical, and had similar late gadolinium enhancement patterns. Ischemic stroke and severe white matter lesions were more frequent among family A men, but neither family A nor family B men had overt renal disease. Family A and family B heterozygotes had less severe or no clinical manifestations...

Energy utilization of induced pluripotent stem cell-derived cardiomyocyte in Fabry disease.

Science.gov (United States)

Chou, Shih-Jie; Yu, Wen-Chung; Chang, Yuh-Lih; Chen, Wen-Yeh; Chang, Wei-Chao; Chien, Yueh; Yen, Jiin-Cherng; Liu, Yung-Yang; Chen, Shih-Jen; Wang, Chien-Ying; Chen, Yu-Han; Niu, Dau-Ming; Lin, Shing-Jong; Chen, Jaw-Wen; Chiou, Shih-Hwa; Leu, Hsin-Bang

2017-04-01

Fabry disease (FD) is a lysosomal storage disease in which glycosphingolipids (GB3) accumulate in organs of the human body, leading to idiopathic hypertrophic cardiomyopathy and target organ damage. Its pathophysiology is still poorly understood. We aimed to generate patient-specific induced pluripotent stem cells (iPSC) from FD patients presenting cardiomyopathy to determine whether the model could recapitulate key features of the disease phenotype and to investigate the energy metabolism in Fabry disease. Peripheral blood mononuclear cells from a 30-year-old Chinese man with a diagnosis of Fabry disease, GLA gene (IVS4+919G>A) mutation were reprogrammed into iPSCs and differentiated into iPSC-CMs and energy metabolism was analyzed in iPSC-CMs. The FD-iPSC-CMs recapitulated numerous aspects of the FD phenotype including reduced GLA activity, cellular hypertrophy, GB3 accumulation and impaired contractility. Decreased energy metabolism with energy utilization shift to glycolysis was observed, but the decreased energy metabolism was not modified by enzyme rescue replacement (ERT) in FD-iPSCs-CMs. This model provided a promising in vitro model for the investigation of the underlying disease mechanism and development of novel therapeutic strategies for FD. This potential remedy for enhancing the energetic network and utility efficiency warrants further study to identify novel therapies for the disease. Copyright © 2017 Elsevier B.V. All rights reserved.

Skin Diseases: Skin Health and Skin Diseases

Science.gov (United States)

Skip Navigation Bar Home Current Issue Past Issues Skin Diseases Skin Health and Skin Diseases Past Issues / Fall 2008 Table of Contents ... acne to wrinkles Did you know that your skin is the largest organ of your body? It ...

Substrate reduction augments the efficacy of enzyme therapy in a mouse model of Fabry disease.

Directory of Open Access Journals (Sweden)

John Marshall

Full Text Available Fabry disease is an X-linked glycosphingolipid storage disorder caused by a deficiency in the activity of the lysosomal hydrolase α-galactosidase A (α-gal. This deficiency results in accumulation of the glycosphingolipid globotriaosylceramide (GL-3 in lysosomes. Endothelial cell storage of GL-3 frequently leads to kidney dysfunction, cardiac and cerebrovascular disease. The current treatment for Fabry disease is through infusions of recombinant α-gal (enzyme-replacement therapy; ERT. Although ERT can markedly reduce the lysosomal burden of GL-3 in endothelial cells, variability is seen in the clearance from several other cell types. This suggests that alternative and adjuvant therapies may be desirable. Use of glucosylceramide synthase inhibitors to abate the biosynthesis of glycosphingolipids (substrate reduction therapy, SRT has been shown to be effective at reducing substrate levels in the related glycosphingolipidosis, Gaucher disease. Here, we show that such an inhibitor (eliglustat tartrate, Genz-112638 was effective at lowering GL-3 accumulation in a mouse model of Fabry disease. Relative efficacy of SRT and ERT at reducing GL-3 levels in Fabry mouse tissues differed with SRT being more effective in the kidney, and ERT more efficacious in the heart and liver. Combination therapy with ERT and SRT provided the most complete clearance of GL-3 from all the tissues. Furthermore, treatment normalized urine volume and uromodulin levels and significantly delayed the loss of a nociceptive response. The differential efficacies of SRT and ERT in the different tissues indicate that the combination approach is both additive and complementary suggesting the possibility of an improved therapeutic paradigm in the management of Fabry disease.

Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation

NARCIS (Netherlands)

Warnock, David G.; Ortiz, Alberto; Mauer, Michael; Linthorst, Gabor E.; Oliveira, João P.; Serra, Andreas L.; Maródi, László; Mignani, Renzo; Vujkovac, Bojan; Beitner-Johnson, Dana; Lemay, Roberta; Cole, J. Alexander; Svarstad, Einar; Waldek, Stephen; Germain, Dominique P.; Wanner, Christoph

2012-01-01

Background. The purpose of this study was to identify determinants of renal disease progression in adults with Fabry disease during treatment with agalsidase beta. Methods. Renal function was evaluated in 151 men and 62 women from the Fabry Registry who received agalsidase beta at an average dose of

Myocardial lipid content in Fabry disease: a combined 1H-MR spectroscopy and MR imaging study at 3 Tesla.

Science.gov (United States)

Petritsch, B; Köstler, H; Weng, A M; Horn, M; Gassenmaier, T; Kunz, A S; Weidemann, F; Wanner, C; Bley, T A; Beer, M

2016-10-28

Fabry disease is characterized by a progressive deposition of sphingolipids in different organ systems, whereby cardiac involvement leads to death. We hypothesize that lysosomal storage of sphingolipids in the heart as occurring in Fabry disease does not reflect in higher cardiac lipid concentrations detectable by 1 H magnetic resonance spectroscopy (MRS) at 3 Tesla. Myocardial lipid content was quantified in vivo by 1 H-MRS in 30 patients (12 male, 18 female; 18 patients treated with enzyme replacement therapy) with genetically proven Fabry disease and in 30 healthy controls. The study protocol combined 1 H-MRS with cardiac cine imaging and LGE MRI in a single examination. Myocardial lipid content was not significantly elevated in Fabry disease (p = 0.225). Left ventricular (LV) mass was significantly higher in patients suffering from Fabry disease compared to controls (p = 0.019). Comparison of patients without signs of myocardial fibrosis in MRI (LGE negative; n = 12) to patients with signs of fibrosis (LGE positive; n = 18) revealed similar myocardial lipid content in both groups (p > 0.05), while the latter showed a trend towards elevated LV mass (p = 0.076). This study demonstrates the potential of lipid metabolic investigation embedded in a comprehensive examination of cardiac morphology and function in Fabry disease. There was no evidence that lysosomal storage of sphingolipids influences cardiac lipid content as measured by 1 H-MRS. Finally, the authors share the opinion that a comprehensive cardiac examination including three subsections (LGE; 1 H-MRS; T 1 mapping), could hold the highest potential for the final assessment of early and late myocardial changes in Fabry disease.

Screening for Fabry Disease in Left Ventricular Hypertrophy: Documentation of a Novel Mutation

Energy Technology Data Exchange (ETDEWEB)

Baptista, Ana, E-mail: baptista-ana@hotmail.com; Magalhães, Pedro; Leão, Sílvia; Carvalho, Sofia; Mateus, Pedro; Moreira, Ilídio [Centro Hospitalar de Trás-os-Montes e Alto Douro, Unidade de Vila Real (Portugal)

2015-08-15

Fabry disease is a lysosomal storage disease caused by enzyme α-galactosidase A deficiency as a result of mutations in the GLA gene. Cardiac involvement is characterized by progressive left ventricular hypertrophy. To estimate the prevalence of Fabry disease in a population with left ventricular hypertrophy. The patients were assessed for the presence of left ventricular hypertrophy defined as a left ventricular mass index ≥ 96 g/m{sup 2} for women or ≥ 116 g/m{sup 2} for men. Severe aortic stenosis and arterial hypertension with mild left ventricular hypertrophy were exclusion criteria. All patients included were assessed for enzyme α-galactosidase A activity using dry spot testing. Genetic study was performed whenever the enzyme activity was decreased. A total of 47 patients with a mean left ventricular mass index of 141.1 g/m{sup 2} (± 28.5; 99.2 to 228.5 g/m{sup 2}] were included. Most of the patients were females (51.1%). Nine (19.1%) showed decreased α-galactosidase A activity, but only one positive genetic test − [GLA] c.785G>T; p.W262L (exon 5), a mutation not previously described in the literature. This clinical investigation was able to establish the association between the mutation and the clinical presentation. In a population of patients with left ventricular hypertrophy, we documented a Fabry disease prevalence of 2.1%. This novel case was defined in the sequence of a mutation of unknown meaning in the GLA gene with further pathogenicity study. Thus, this study permitted the definition of a novel causal mutation for Fabry disease - [GLA] c.785G>T; p.W262L (exon 5)

Screening for Fabry Disease in Left Ventricular Hypertrophy: Documentation of a Novel Mutation

International Nuclear Information System (INIS)

Baptista, Ana; Magalhães, Pedro; Leão, Sílvia; Carvalho, Sofia; Mateus, Pedro; Moreira, Ilídio

2015-01-01

Fabry disease is a lysosomal storage disease caused by enzyme α-galactosidase A deficiency as a result of mutations in the GLA gene. Cardiac involvement is characterized by progressive left ventricular hypertrophy. To estimate the prevalence of Fabry disease in a population with left ventricular hypertrophy. The patients were assessed for the presence of left ventricular hypertrophy defined as a left ventricular mass index ≥ 96 g/m 2 for women or ≥ 116 g/m 2 for men. Severe aortic stenosis and arterial hypertension with mild left ventricular hypertrophy were exclusion criteria. All patients included were assessed for enzyme α-galactosidase A activity using dry spot testing. Genetic study was performed whenever the enzyme activity was decreased. A total of 47 patients with a mean left ventricular mass index of 141.1 g/m 2 (± 28.5; 99.2 to 228.5 g/m 2 ] were included. Most of the patients were females (51.1%). Nine (19.1%) showed decreased α-galactosidase A activity, but only one positive genetic test − [GLA] c.785G>T; p.W262L (exon 5), a mutation not previously described in the literature. This clinical investigation was able to establish the association between the mutation and the clinical presentation. In a population of patients with left ventricular hypertrophy, we documented a Fabry disease prevalence of 2.1%. This novel case was defined in the sequence of a mutation of unknown meaning in the GLA gene with further pathogenicity study. Thus, this study permitted the definition of a novel causal mutation for Fabry disease - [GLA] c.785G>T; p.W262L (exon 5)

The central nervous system manifestation and CT findings of Fabry's disease

International Nuclear Information System (INIS)

Toyonaga, Kazutaka; Nishihira, Takeo

1983-01-01

A case of Fabry's disease with central nervous system dysfunction is reported. This 27-year-old man had recurrent episodes of pains in the extremities when he was a child. Spontaneous clinical remission occured around puberty. He had been well until age 22 when he experienced transient weakness of the left arm. The following year he developed transient blindness of the right eye. Then, he developed weakness in the extremities, dysphagia, dysarthria, and was brought to the hospital in unconscious state. Several members of his family are affected with the same disease presenting leg pains, kidney disease and angiokeratoma. Physical examination disclosed an optic atrophy, pseudobulbar palsy with spastic weakness in the all extremities and multiple angiokeratoma in the flank, buttocks and thighs. Abnormal laboratory findings included leukocytosis, increased ESR and strongly positive CRP. Biopsy of the skin disclosed dilated capilaries with numerous vacuoles in the cytoplasm of the epithelial cells. Thin-layer chromatography of the urine sediment showed a marked increase in ceramide trihexoside. Leukocyte alphagalactosidase level was abnormally low. CT scan showed diffuse cerebral atrophy and multiple low density areas in the thalamus, ventral pons and centrum semiovale. The CT findings and possible mechanism of the response to predonisolone were also discussed. (author)

Fabry disease: the importance of the enzyme replacement therapy (TRE, treating quickly and efficiently

Directory of Open Access Journals (Sweden)

Juan Manuel Politei

2014-06-01

Full Text Available Fabry Disease is a lysosomal disorder due to the absence or deficiency of the Alpha galactosidase A enzyme that causes a pathological accumulation of glycosphingolipids mainly in the endothelial cells, vascular smooth muscle cells and podocytes among others. Enzyme replacement therapy is the only option for a specific treatment at present. Increasing knowledge of the physiopathological mechanisms has changed the management of the disease and above all, when treatment should begin. At present, beginning treatment at an early age seems to be a way of preventing and in some cases reverting some of the signs and symptoms of Fabry disease.

A comprehensive Fabry-related pain questionnaire for adult patients.

Science.gov (United States)

Üçeyler, Nurcan; Magg, Barbara; Thomas, Phillip; Wiedmann, Silke; Heuschmann, Peter; Sommer, Claudia

2014-11-01

Pain may be the earliest symptom in Fabry disease and presents with a distinct phenotype including triggerable pain attacks, evoked pain, pain crises, and chronic pain. Current pain questionnaires do not reflect the special phenotype of Fabry disease-associated pain, which hampers its systematic evaluation as the basis of correct diagnosis and effective treatment. A questionnaire specifically designed to assess Fabry disease-associated pain is thus urgently needed. At the Würzburg Fabry Center for Interdisciplinary Therapy (FAZIT), Germany, we developed and validated the first face-to-face Fabry Pain Questionnaire (FPQ) for adult patients. The initial version of the FPQ was tested in a pilot study with 20 consecutive Fabry disease patients. The performance of the revised FPQ was assessed in a first (n=56) and second (n=20) validation phase in consecutive Fabry disease patients. For this, patients were interviewed at baseline and 2 weeks later. We determined the test-retest reliability and validity of the FPQ in comparison to data obtained with the Neuropathic Pain Symptom Inventory. The FPQ contains 15 questions on the 4 pain phenotypes of Fabry disease (pain attacks, pain crises, evoked pain, chronic pain) in childhood and adulthood, on pain development during life with and without enzyme replacement therapy, and on everyday life impairment due to pain. This first disease-specific questionnaire is a valuable tool for baseline and follow-up assessment of pain in Fabry disease patients and may guide treatment in this distinct pain phenotype. Copyright © 2014 International Association for the Study of Pain. Published by Elsevier B.V. All rights reserved.

Magnetic resonance spectroscopy in patients with Fabry and Gaucher disease

Energy Technology Data Exchange (ETDEWEB)

Gruber, S., E-mail: stephan@nmr.at [Department of Radiology, MR-Centre of Excellence, Medical University of Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria); Bogner, W. [Department of Radiology, MR-Centre of Excellence, Medical University of Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria); Stadlbauer, A. [MR Physics Group, Department of Radiology, Landesklinikum St. Poelten (Austria); Krssak, M. [Department of Radiology, MR-Centre of Excellence, Medical University of Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria); Bodamer, O. [Department of Pediatrics, Medical University of Vienna (Austria)

2011-08-15

Objective: Fabry and Gaucher diseases are rare progressive inherited disorders of glycosphingolipid metabolism that affect multiple organ systems. The aim of this study was to investigate evidence for metabolic changes in the central nervous system involvement using proton magnetic resonance spectroscopic imaging. Methods: Seven Fabry and eight Gaucher patients were included into this study. A two-dimensional, spectroscopic imaging method with an ultra-short echo-time of 11 ms was used at a 3 T whole body magnet. Absolute metabolic values were retrieved using internal water scaling. Results were compared, with sex- and age-matched controls. Results: In contrast to previous findings, absolute and relative metabolite values of N-acetyl-aspartate (NAA) or NAA/Creatine (Cr), Cr, Choline (Cho) or Cho/Cr and myo-Inositol (mI) or mI/Cr revealed no, differences between Fabry and Gaucher Type 1 (GD1) patients and controls. Average values were, 10.22, 6.32, 2.15 and 5.39 mMol/kg wet weight for NAA, Cr, Cho and mI, respectively. In this study, we found significantly decreasing NAA/Cho with increasing age in all three groups (Fabry, GD1, patients and healthy controls) (between 5 and 8% per decade). Conclusions: There were no changes of the quantified metabolites detected by MRS in normal appearing white matter. This study shows the importance of sex- and age-matched controls.

Magnetic resonance spectroscopy in patients with Fabry and Gaucher disease

International Nuclear Information System (INIS)

Gruber, S.; Bogner, W.; Stadlbauer, A.; Krssak, M.; Bodamer, O.

2011-01-01

Objective: Fabry and Gaucher diseases are rare progressive inherited disorders of glycosphingolipid metabolism that affect multiple organ systems. The aim of this study was to investigate evidence for metabolic changes in the central nervous system involvement using proton magnetic resonance spectroscopic imaging. Methods: Seven Fabry and eight Gaucher patients were included into this study. A two-dimensional, spectroscopic imaging method with an ultra-short echo-time of 11 ms was used at a 3 T whole body magnet. Absolute metabolic values were retrieved using internal water scaling. Results were compared, with sex- and age-matched controls. Results: In contrast to previous findings, absolute and relative metabolite values of N-acetyl-aspartate (NAA) or NAA/Creatine (Cr), Cr, Choline (Cho) or Cho/Cr and myo-Inositol (mI) or mI/Cr revealed no, differences between Fabry and Gaucher Type 1 (GD1) patients and controls. Average values were, 10.22, 6.32, 2.15 and 5.39 mMol/kg wet weight for NAA, Cr, Cho and mI, respectively. In this study, we found significantly decreasing NAA/Cho with increasing age in all three groups (Fabry, GD1, patients and healthy controls) (between 5 and 8% per decade). Conclusions: There were no changes of the quantified metabolites detected by MRS in normal appearing white matter. This study shows the importance of sex- and age-matched controls.

Screening for Fabry's disease in young patients with ischemic stroke in a Chinese population.

Science.gov (United States)

Song, Xiaowei; Xue, Sufang; Zhao, Jingyan; Wu, Jian

2017-04-01

Fabry disease is an X-linked lysosomal storage disorder frequently associated with cerebrovascular disease. Data regarding Fabry disease and ischemic stroke has been lacking in China. In this study, we investigated the prevalence of Fabry disease and the distribution of the alpha-galactosidase A (α-GalA) gene - GLA mutations in young stroke patients in the Chinese population and its association with stroke subtypes. A total of 357 ischemic stroke patients admitted to Xuanwu Hospital of Capital Medical University, aged 18-55 years old, including 293 patients with cerebral infarction and 64 patients with transient ischemic attack, were enrolled in this study. Mutations in the GLA gene were screened by Sanger sequencing. Enzyme levels were measured to further confirm the disease in patients with the gene mutation. The mutation frequency was compared among different stroke subtypes and further compared with the control group individually. No pathogenic mutations in the coding regions of the GLA gene were identified in this group of patients and thus no Fabry disease was found in our study. However, the frequency of an intronic polymorphism c.-10C>T was significantly different among different Trial of Org 10172 in Acute Stroke Treatment subtypes (p T polymorphism in patients with stroke due to other causes and undetermined causes was much higher than that in the control group (OR = 3.18, 95% CI: 1.29-7.83, p stroke patients. In addition, our results suggested that the c.-10C>T polymorphism may be a risk factor for ischemic stroke of other and undetermined causes. Further study is required to confirm our findings.

[Role of cardiac magnetic resonance in cardiac involvement of Fabry disease].

Science.gov (United States)

Serra, Viviana M; Barba, Miguel Angel; Torrá, Roser; Pérez De Isla, Leopoldo; López, Mónica; Calli, Andrea; Feltes, Gisela; Torras, Joan; Valverde, Victor; Zamorano, José L

2010-09-04

Fabry disease is a hereditary disorder. Clinical manifestations are multisystemic. The majority of the patients remain undiagnosed until late in life, when alterations could be irreversible. Early detection of cardiac symptoms is of major interest in Fabry's disease (FD) in order to gain access to enzyme replacement therapy. Echo-Doppler tissular imaging (TDI) has been used as a cardiologic early marker in FD. This study is intended to determine whether the cardiac magnetic resonance is as useful tool as TDI for the early detection of cardiac affectation in FD. Echocardiography, tissue Doppler and Cardio magnetic resonance was performed in 20 patients with confirmed Fabry Disease. Left ventricular hypertrophy was defined as septum and left ventricular posterior wall thickness ≥12 mm. An abnormal TDI velocity was defined as (Sa), (Ea) and/or (Aa) velocities gadolinium-enhanced images sequences were obtained using magnetic resonance. Twenty patients included in the study were divided into three groups: 1. Those without left ventricular hypertrophy nor tissue Doppler impairment 2. Those without left ventricular hypertrophy and tissue Doppler impairment 3. Those with left ventricular hypertrophy and Tissue Doppler impairment. Late gadolinium enhancement was found in only one patient, who has already altered DTI and LVH. Tissue Doppler imaging (TDI) is the only diagnostic tool able to provide early detection of cardiac affectation in patients with FD. Magnetic resonance provides information of the disease severity in patients with LVH, but can not be used as an early marker of cardiac disease in patients with FD. However MRI could be of great value for diagnostic stratification. Copyright © 2009 Elsevier España, S.L. All rights reserved.

Screening for Fabry Disease in Left Ventricular Hypertrophy: Documentation of a Novel Mutation

Directory of Open Access Journals (Sweden)

Ana Baptista

2015-01-01

Full Text Available Abstract Background: Fabry disease is a lysosomal storage disease caused by enzyme α-galactosidase A deficiency as a result of mutations in the GLA gene. Cardiac involvement is characterized by progressive left ventricular hypertrophy. Objective: To estimate the prevalence of Fabry disease in a population with left ventricular hypertrophy. Methods: The patients were assessed for the presence of left ventricular hypertrophy defined as a left ventricular mass index ≥ 96 g/m2 for women or ≥ 116 g/m2 for men. Severe aortic stenosis and arterial hypertension with mild left ventricular hypertrophy were exclusion criteria. All patients included were assessed for enzyme α-galactosidase A activity using dry spot testing. Genetic study was performed whenever the enzyme activity was decreased. Results: A total of 47 patients with a mean left ventricular mass index of 141.1 g/m2 (± 28.5; 99.2 to 228.5 g/m2] were included. Most of the patients were females (51.1%. Nine (19.1% showed decreased α-galactosidase A activity, but only one positive genetic test − [GLA] c.785G>T; p.W262L (exon 5, a mutation not previously described in the literature. This clinical investigation was able to establish the association between the mutation and the clinical presentation. Conclusion: In a population of patients with left ventricular hypertrophy, we documented a Fabry disease prevalence of 2.1%. This novel case was defined in the sequence of a mutation of unknown meaning in the GLA gene with further pathogenicity study. Thus, this study permitted the definition of a novel causal mutation for Fabry disease - [GLA] c.785G>T; p.W262L (exon 5.

Monitoring renal function in children with Fabry disease: comparisons of measured and creatinine-based estimated glomerular filtration rate

NARCIS (Netherlands)

Tøndel, Camilla; Ramaswami, Uma; Aakre, Kristin Moberg; Wijburg, Frits; Bouwman, Machtelt; Svarstad, Einar

2010-01-01

Studies on renal function in children with Fabry disease have mainly been done using estimated creatinine-based glomerular filtration rate (GFR). The aim of this study was to compare estimated creatinine-based GFR (eGFR) with measured GFR (mGFR) in children with Fabry disease and normal renal

Value of the CHA2DS2-VASc score and Fabry-specific score for predicting new-onset or recurrent stroke/TIA in Fabry disease patients without atrial fibrillation.

Science.gov (United States)

Liu, Dan; Hu, Kai; Schmidt, Marie; Müntze, Jonas; Maniuc, Octavian; Gensler, Daniel; Oder, Daniel; Salinger, Tim; Weidemann, Frank; Ertl, Georg; Frantz, Stefan; Wanner, Christoph; Nordbeck, Peter

2018-05-24

To evaluate potential risk factors for stroke or transient ischemic attacks (TIA) and to test the feasibility and efficacy of a Fabry-specific stroke risk score in Fabry disease (FD) patients without atrial fibrillation (AF). FD patients often experience cerebrovascular events (stroke/TIA) at young age. 159 genetically confirmed FD patients without AF (aged 40 ± 14 years, 42.1% male) were included, and risk factors for stroke/TIA events were determined. All patients were followed up over a median period of 60 (quartiles 35-90) months. The pre-defined primary outcomes included new-onset or recurrent stroke/TIA and all-cause death. Prior stroke/TIA (HR 19.97, P TIA in FD patients without AF. A Fabry-specific score was established based on above defined risk factors, proving somehow superior to the CHA 2 DS 2 -VASc score in predicting new-onset or recurrent stroke/TIA in this cohort (AUC 0.87 vs. 0.75, P = .199). Prior stroke/TIA, angiokeratoma, renal dysfunction, left ventricular hypertrophy, and global systolic dysfunction are independent risk factors for new-onset or recurrent stroke/TIA in FD patients without AF. It is feasible to predict new or recurrent cerebral events with the Fabry-specific score based on the above defined risk factors. Future studies are warranted to test if FD patients with high risk for new-onset or recurrent stroke/TIA, as defined by the Fabry-specific score (≥ 2 points), might benefit from antithrombotic therapy. Clinical trial registration HEAL-FABRY (evaluation of HEArt invoLvement in patients with FABRY disease, NCT03362164).

Identification of a Novel GLA Mutation (L206 P) in a Patient with Fabry Disease.

Science.gov (United States)

Kim, Ji-Hoon; Kim, Gee-Hee; Park, Hoon-Suk; Choi, Jin-A; Bae, Jung-Min; Cho, Uiju

2017-03-01

We report a new α-Galactosidase A (αGal-A) mutation in a 39-year-old Korean born, male Fabry disease patient. Fabry disease is a devastating, progressive inborn error of metabolism caused by X-linked genetic mutations. In this case, the first clinical symptom to occur was in childhood consisting of a burning pain originating in the extremities then radiating inwards to the limbs. This patient also stated to have ringing in his ears, angiokeratomas on his trunk, and cornea verticillata. He visited an outpatient cardiologist due to intermittent and atypical chest discomfort at the age of 39. Electrocardiographic and echocardiographic examination showed left ventricular hypertrophy. A physical examination revealed proteinuria without hematuria. The patient's plasma αGal-A activity was markedly lower than the mean value of the controls. After genetic counseling and obtaining written informed consent, we identified one hemizygous mutation in exon 4 of galactosidase alpha, c.617T>C (p.Leu206 Pro). He was eventually diagnosed as having Fabry disease.

Successful salvage therapy with Daptomycin for osteomyelitis caused by methicillin-resistant Staphylococcus aureus in a renal transplant recipient with Fabry-Anderson disease

Directory of Open Access Journals (Sweden)

Polilli Ennio

2012-03-01

Full Text Available Abstract Daptomycin is licensed in adults for the management of Staphylococcus aureus methicillin-resistant infections, including bone and skin complicated infections. We describe for the first time its use in a renal transplant recipient for Fabry-Anderson Disease with right heel osteomyelitis. The patient was unresponsive to first-line Teicoplanin and second-line Tigecycline, whereas he was successfully treated with third-line Daptomycin monotherapy at 4 mg/Kg/qd for 4 weeks. Local debridement was performed in advance of each line of treatment.

Cilioretinal artery occlusion and anterior ischemic optic neuropathy as the initial presentation in a child female carrier of Fabry disease.

Science.gov (United States)

Ersoz, M Giray; Ture, Gamze

2018-04-01

To report the youngest female carrier of Fabry disease, complicated by cilioretinal artery occlusion and anterior ischemic optic neuropathy (AION). Case report. An 11-year-old girl was referred to our clinic with painless, acute loss of vision in her right eye. Posterior segment examination and fluorescein angiography revealed cilioretinal artery occlusion and AION. Systemic evaluations were unremarkable, except for a low blood α-galactosidase A enzyme level of 242.27 pmol/spot*20 h (reference range: 450-2000 pmol/spot*20 h). The patient was diagnosed with female carrier of Fabry disease. Retinal vascular occlusions are rare in childhood, and Fabry disease may present with retinal vascular occlusion. Ophthalmological examinations may be contributing for early detection of the disease. To the best of our knowledge, this is the first report of a child female carrier of Fabry disease, complicated by cilioretinal artery occlusion and AION.

Long-term enzyme replacement therapy is associated with reduced proteinuria and preserved proximal tubular function in women with Fabry disease

DEFF Research Database (Denmark)

Prabakaran, Thaneas; Birn, Henrik; Bibby, Bo M

2014-01-01

dysfunction in women with Fabry disease treated with ERT. METHODS: A retrospective, single centre, cohort study evaluated the long-term association between ERT, albuminuria and eGFR in 13 women with Fabry disease and mild renal involvement. In particular, we analysed the changes in the proteinuric profile...... to end-stage renal failure. In women with Fabry disease, accumulation of GL-3 in the glomerular podocytes and other renal cells induces progressive, proteinuric nephropathy, but not as severe as in men. Enzyme replacement therapy (ERT) with recombinant α-Gal A reduces cellular GL-3 deposits in podocytes...... in albuminuria was paralleled by a decrease in both glomerular and tubular urine protein markers. CONCLUSIONS: The data indicate that long-term ERT is associated with a reduction in albuminuria and glomerular and tubular urinary protein markers in women with Fabry disease and mild renal manifestations....

Compromiso cardiovascular en la enfermedad de Fabry Cardiovascular involvement in Fabry disease

Directory of Open Access Journals (Sweden)

Ana M Barón O

2008-06-01

Full Text Available La enfermedad de Fabry es una patología de origen genético que se produce por el depósito, a nivel lisosomal, de diferentes productos como globotriazolceramida, glicoesfingolípidos neurales y diagalactosilceramida a nivel sistémico, como consecuencia de la actividad deficiente de la enzima alfa-galactosidasa A. Las manifestaciones clínicas se inician desde la infancia pero son sutiles y suelen confundirse con otras patologías, razón por la cual en la mayoría de los casos la enfermedad se detecta en grados avanzados. En los adultos los órganos más afectados son corazón, riñones y cerebro. El compromiso cardiaco es de gran importancia por tratarse de una de las principales causas de morbi-mortalidad. El depósito de estas moléculas ocurre en todos sus componentes celulares. Genera hipertrofia e isquemia y remodelación miocárdica, o ambas. En la actualidad existe tratamiento específico con agalasidasa A y B recombinante, con el cual se logra una disminución en los depósitos lisosomales. Se recomienda aumentar la vigilancia de la enfermedad para detectar los casos e iniciar el tratamiento lo más temprano posible.Fabry disease is a genetic condition that causes lysosomal storage of products like glotriaosylceramide, neural glycosphingolipids and diagalactosylceramide, as a consequence of alpha-galactosidase A enzyme deficiency. Clinical manifestations begin in childhood, but they are subtle, and can mimic other pathologies, delaying the diagnosis until the second or third decade of life, when the disease is in an advanced stage. In adults the most affected organs are heart, kidneys and brain. Cardiac involvement is one of the most important causes of morbidity and mortality. Deposits of these molecules occur in every component of the heart, leading to hypertrophy, ischemia and myocardial remodeling. Nowadays there is specific enzyme replacement therapy with recombinant agalacidase A and B that decreases lysosomal deposits and

Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease

DEFF Research Database (Denmark)

Biegstraaten, Marieke; Arngrímsson, Reynir; Barbey, Frederic

2015-01-01

INTRODUCTION: Fabry disease (FD) is a lysosomal storage disorder resulting in progressive nervous system, kidney and heart disease. Enzyme replacement therapy (ERT) may halt or attenuate disease progression. Since administration is burdensome and expensive, appropriate use is mandatory. We aimed ...

Metabolomic Discovery of Novel Urinary Galabiosylceramide Analogs as Fabry Disease Biomarkers

Science.gov (United States)

Boutin, Michel; Auray-Blais, Christiane

2015-03-01

Fabry disease is an X-linked, complex, multisystemic lysosomal storage disorder presenting marked phenotypic and genotypic variability among affected male and female patients. Glycosphingolipids, mainly globotriaosylceramide (Gb3) isoforms/analogs, globotriaosylsphingosine (lyso-Gb3) and analogs, as well as galabiosylceramide (Ga2) isoforms/analogs accumulate in the vascular endothelium, nerves, cardiomyocytes, renal glomerular and tubular epithelial cells, and biological fluids. The search for biomarkers reflecting disease severity and progression is still on-going. A metabolomic study using quadrupole time-of-flight mass spectrometry has revealed 22 galabiosylceramide isoforms/analogs in urine of untreated Fabry patients classified in seven groups according to their chemical structure: (1) Saturated fatty acid; (2) one extra double bond; (3) two extra double bonds; (4) hydroxylated saturated fatty acid; (5) hydroxylated fatty acid and one extra double bond; (6) hydrated sphingosine and hydroxylated fatty acid; (7) methylated amide linkage. Relative quantification of both Ga2 and Gb3 isoforms/analogs was performed. All these biomarkers are significantly more abundant in urine samples from untreated Fabry males compared with healthy male controls. A significant amount of Ga2 isoforms/analogs, accounting for 18% of all glycosphingolipids analyzed (Ga2 + Gb3 and respective isoforms/analogs), were present in urine of Fabry patients. Gb3 isoforms containing saturated fatty acids are the most abundant (60.9%) compared with 26.3% for Ga2. A comparison between Ga2 isoforms/analogs and their Gb3 counterparts also showed that the proportion of analogs with hydroxylated fatty acids is significantly greater for Ga2 (35.8%) compared with Gb3 (1.9%). These results suggest different biological pathways involved in the synthesis and/or degradation of Gb3 and Ga2 metabolites.

Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain

NARCIS (Netherlands)

Rombach, Saskia M.; Smid, Bouwien E.; Bouwman, Machtelt G.; Linthorst, Gabor E.; Dijkgraaf, Marcel G. W.; Hollak, Carla E. M.

2013-01-01

Fabry disease is an X-linked lysosomal storage disorder caused by α-galactosidase A deficiency leading to renal, cardiac, cerebrovascular disease and premature death. Treatment with α-galactosidase A (enzyme replacement therapy, ERT) stabilises disease in some patients, but long term effectiveness

Chronic kidney disease and an uncertain diagnosis of Fabry disease: Approach to a correct diagnosis

NARCIS (Netherlands)

van der Tol, Linda; Svarstad, Einar; Ortiz, Alberto; Tøndel, Camilla; Oliveira, João Paulo; Vogt, Liffert; Waldek, Stephen; Hughes, Derralynn A.; Lachmann, Robin H.; Terryn, Wim; Hollak, Carla E.; Florquin, Sandrine; van den Bergh Weerman, Marius A.; Wanner, Christoph; West, Michael L.; Biegstraaten, Marieke; Linthorst, Gabor E.

2015-01-01

Background and objectives: Screening for Fabry disease (FD), an X-linked lysosomal storage disorder, reveals a significant number of individuals with a genetic variant of unknown significance without classical FD manifestations; these variants in the a-galactosidase A gene often result in a high

Córnea verticilata - marcador clínico da doença de Fabry: relato de caso Cornea verticillata - a clinical marker of Fabry disease: case report

Directory of Open Access Journals (Sweden)

Cynthia Azeredo Cordeiro

2007-08-01

Full Text Available A doença de Fabry é erro inato do metabolismo dos glicoesfingolipídeos (GL, resultante da atividade deficiente da enzima alfa-galactosidase A (a-Gal, com herança ligada ao cromossomo X. O acúmulo progressivo de GL nos tecidos resulta nas manifestações clínicas da doença, mais evidentes em homens hemizigotos, e incluem angioqueratomas, acroparestesias, córnea verticilata, hipo-hidrose, envolvimento cardíaco, renal e manifestações cerebrovasculares. Foi realizada avaliação em família acometida pela doença, sendo dois pacientes do sexo feminino e três do sexo masculino. Todos os pacientes foram submetidos a anamnese, exame oftalmológico completo e dosagem da atividade da enzima a-Gal. O único achado clínico presente em todos foi a córnea verticilata. Isto demonstra o importante papel que o exame oftalmológico apresenta no diagnóstico da doença, já que as alterações oculares são tão características.Fabry's disease is a rare X-linked lisosomal storage disorder of glycosphingolipid (GL metabolism, caused by a deficiency of alpha-galactosidase A activity. The progressive accumulation of GL in tissues results in the clinical manifestations of the disease, that are more evident in hemizygous males, and include angiokeratomas, acroparesthesia, cornea verticillata, cardiac and kidney involvement, cerebrovascular manifestations. A family with Fabry's disease including 2 female patients and 3 male patients is reported. The patients were submitted to complete medical history, ophthalmological examination and alpha-galactosidase activity test. Cornea verticillata was a constant finding in all patients. This demonstrates the important role of the ophtalmological examination for the diagnosis of Fabry's disease since the eye findings are so characteristic of the disease.

Altered dynamics of a lipid raft associated protein in a kidney model of Fabry disease.

Science.gov (United States)

Labilloy, Anatália; Youker, Robert T; Bruns, Jennifer R; Kukic, Ira; Kiselyov, Kirill; Halfter, Willi; Finegold, David; do Monte, Semiramis Jamil Hadad; Weisz, Ora A

2014-02-01

Accumulation of globotriaosylceramide (Gb3) and other neutral glycosphingolipids with galactosyl residues is the hallmark of Fabry disease, a lysosomal storage disorder caused by deficiency of the enzyme alpha-galactosidase A (α-gal A). These lipids are incorporated into the plasma membrane and intracellular membranes, with a preference for lipid rafts. Disruption of raft mediated cell processes is implicated in the pathogenesis of several human diseases, but little is known about the effects of the accumulation of glycosphingolipids on raft dynamics in the context of Fabry disease. Using siRNA technology, we have generated a polarized renal epithelial cell model of Fabry disease in Madin-Darby canine kidney cells. These cells present increased levels of Gb3 and enlarged lysosomes, and progressively accumulate zebra bodies. The polarized delivery of both raft-associated and raft-independent proteins was unaffected by α-gal A knockdown, suggesting that accumulation of Gb3 does not disrupt biosynthetic trafficking pathways. To assess the effect of α-gal A silencing on lipid raft dynamics, we employed number and brightness (N&B) analysis to measure the oligomeric status and mobility of the model glycosylphosphatidylinositol (GPI)-anchored protein GFP-GPI. We observed a significant increase in the oligomeric size of antibody-induced clusters of GFP-GPI at the plasma membrane of α-gal A silenced cells compared with control cells. Our results suggest that the interaction of GFP-GPI with lipid rafts may be altered in the presence of accumulated Gb3. The implications of our results with respect to the pathogenesis of Fabry disease are discussed. © 2013 Elsevier Inc. All rights reserved.

Lentivector Iterations and Pre-Clinical Scale-Up/Toxicity Testing: Targeting Mobilized CD34+ Cells for Correction of Fabry Disease

Directory of Open Access Journals (Sweden)

Ju Huang

2017-06-01

Full Text Available Fabry disease is a rare lysosomal storage disorder (LSD. We designed multiple recombinant lentivirus vectors (LVs and tested their ability to engineer expression of human α-galactosidase A (α-gal A in transduced Fabry patient CD34+ hematopoietic cells. We further investigated the safety and efficacy of a clinically directed vector, LV/AGA, in both ex vivo cell culture studies and animal models. Fabry mice transplanted with LV/AGA-transduced hematopoietic cells demonstrated α-gal A activity increases and lipid reductions in multiple tissues at 6 months after transplantation. Next we found that LV/AGA-transduced Fabry patient CD34+ hematopoietic cells produced even higher levels of α-gal A activity than normal CD34+ hematopoietic cells. We successfully transduced Fabry patient CD34+ hematopoietic cells with “near-clinical grade” LV/AGA in small-scale cultures and then validated a clinically directed scale-up transduction process in a GMP-compliant cell processing facility. LV-transduced Fabry patient CD34+ hematopoietic cells were subsequently infused into NOD/SCID/Fabry (NSF mice; α-gal A activity corrections and lipid reductions were observed in several tissues 12 weeks after the xenotransplantation. Additional toxicology studies employing NSF mice xenotransplanted with the therapeutic cell product demonstrated minimal untoward effects. These data supported our successful clinical trial application (CTA to Health Canada and opening of a “first-in-the-world” gene therapy trial for Fabry disease.

Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease

DEFF Research Database (Denmark)

Hughes, Derralynn A.; Nicholls, Kathleen; Shankar, Suma P.

2017-01-01

Background Fabry disease is an X-linked lysosomal storage disorder caused by GLA mutations, resulting in α-galactosidase (α-Gal) deficiency and accumulation of lysosomal substrates. Migalastat, an oral pharmacological chaperone being developed as an alternative to intravenous enzyme replacement t...

Pain management strategies for neuropathic pain in Fabry disease--a systematic review

NARCIS (Netherlands)

Schuller, Y.; Linthorst, G. E.; Hollak, C. E. M.; van Schaik, I. N.; Biegstraaten, M.

2016-01-01

Neuropathic pain is one of the key features of (classical) Fabry disease (FD). No randomized clinical trials comparing effectiveness of different pain management strategies have been performed. This review aims to give an overview of existing pain management strategies. PubMed and Embase were

Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies

Directory of Open Access Journals (Sweden)

Beth L. Thurberg, MD, PhD

2017-06-01

Full Text Available Fabry disease (FD is an X-linked lysosomal storage disorder caused by loss of function mutations in the GLA gene at Xq22 with subsequent functional deficiency of alpha-galactosidase A, resulting in the accumulation of globotriaosylceramide (GL-3 or Gb3 in multiple cells types throughout the body. As with other rare metabolic disorders, little is known about the incidence of malignancies in these populations and the relationship to the underlying disease, if any. We report the occurrence of meningioma in four female patients with Fabry disease. Two of the cases are from the same family and shared the same GLA mutation. All four patients underwent surgical excision of their tumor. High resolution light microscopy and electron microscopy examination of one case revealed extensive involvement of tumor cells and associated blood vessels by GL-3 accumulation. Because of the small number of Fabry-associated cancer cases reported in the literature, questions about a possible link between lysosomal storage disorders and the development of malignancy remain open.

Myocardial fibrosis as the first sign of cardiac involvement in a male patient with Fabry disease: report of a clinical case and discussion on the utility of the magnetic resonance in Fabry pathology.

Science.gov (United States)

Sechi, Annalisa; Nucifora, Gaetano; Piccoli, Gianluca; Dardis, Andrea; Bembi, Bruno

2014-07-16

Cardiovascular magnetic resonance (CMR) with late gadolinium enhancement (LGE) imaging is increasingly used to assess myocardial involvement in patients with Fabry disease, an X linked lipid storage disorder. However, it is often proposed as an optional tool. A different cardiomyopathic disease progression between male and female patients was hypothesised in previous studies, as in female myocardial fibrosis was found without left ventricular (LV) hypertrophy, while myocardial fibrosis was always detected in association to LV hypertrophy in men. A male Caucasian patient, 19 years old, diagnosed through a family-based molecular screening, presented with LGE of the LV inferolateral wall evidenced at the CMR, without LV hypertrophy, or other clinical signs of the disease. This is the first report of cardiac fibrosis as the first sign of organ involvement in a male patient with Fabry disease. This finding stresses the importance of performing CMR with LGE imaging for the initial staging and monitoring of Fabry patients of both genders.

A 15-Year Perspective of the Fabry Outcome Survey

Directory of Open Access Journals (Sweden)

Roberto Giugliani MD, PhD

2016-09-01

Full Text Available The Fabry Outcome Survey (FOS is an international long-term observational registry sponsored by Shire for patients diagnosed with Fabry disease who are receiving or are candidates for therapy with agalsidase alfa (agalα. Established in 2001, FOS provides long-term data on agalα safety/efficacy and collects data on the natural history of Fabry disease, with the aim of improving clinical management. The FOS publications have helped establish prognostic and severity scores, defined the incidence of specific disease variants and implications for clinical management, described clinical manifestations in special populations, confirmed the high prevalence of cardiac morbidity, and demonstrated correlations between ocular changes and Fabry disease severity. These FOS data represent a rich resource with utility not only for description of natural history/therapeutic effects but also for exploratory hypothesis testing and generation of tools for diagnosis/management, with the potential to improve future patient outcomes.

Reduction of globotriaosylceramide in Fabry disease mice by substrate deprivation.

Science.gov (United States)

Abe, A; Gregory, S; Lee, L; Killen, P D; Brady, R O; Kulkarni, A; Shayman, J A

2000-06-01

We used a potent inhibitor of glucosylceramide synthase to test whether substrate deprivation could lower globotriaosylceramide levels in alpha-galactosidase A (alpha-gal A) knockout mice, a model of Fabry disease. C57BL/6 mice treated twice daily for 3 days with D-threo-1-ethylendioxyphenyl-2-palmitoylamino-3-pyrrolidi no-propanol (D-t-EtDO-P4) showed a concentration-dependent decrement in glucosylceramide levels in kidney, liver, and spleen. A single intraperitoneal injection of D-t-EtDO-P4 resulted in a 55% reduction in renal glucosylceramide, consistent with rapid renal glucosylceramide metabolism. A concentration-dependent decrement in renal and hepatic globotriaosylceramide levels was observed in alpha-Gal A(-) males treated for 4 weeks with D-t-EtDO-P4. When 8-week-old alpha-Gal A(-) males were treated for 8 weeks with 10 mg/kg twice daily, renal globotriaosylceramide fell to below starting levels, consistent with an alpha-galactosidase A-independent salvage pathway for globotriaosylceramide degradation. Complications observed with another glucosylceramide synthase inhibitor, N-butyldeoxynojirimycin, including weight loss and acellularity of lymphatic organs, were not observed with D-t-EtDO-P4. These data suggest that Fabry disease may be amenable to substrate deprivation therapy.

Affective and cognitive behavior in the alpha-galactosidase A deficient mouse model of Fabry disease.

Directory of Open Access Journals (Sweden)

Lukas Hofmann

Full Text Available Fabry disease is an X-linked inherited lysosomal storage disorder with intracellular accumulation of globotriaosylceramide (Gb3 due to α-galactosidase A (α-Gal A deficiency. Fabry patients frequently report of anxiety, depression, and impaired cognitive function. We characterized affective and cognitive phenotype of male mice with α-Gal A deficiency (Fabry KO and compared results with those of age-matched male wildtype (WT littermates. Young (3 months and old (≥ 18 months mice were tested in the naïve state and after i.pl. injection of complete Freund`s adjuvant (CFA as an inflammatory pain model. We used the elevated plus maze (EPM, the light-dark box (LDB and the open field test (OF to investigate anxiety-like behavior. The forced swim test (FST and Morris water maze (MWM were applied to assess depressive-like and learning behavior. The EPM test revealed no intergroup difference for anxiety-like behavior in naïve young and old Fabry KO mice compared to WT littermates, except for longer time spent in open arms of the EPM for young WT mice compared to young Fabry KO mice (p<0.05. After CFA injection, young Fabry KO mice showed increased anxiety-like behavior compared to young WT littermates (p<0.05 and naïve young Fabry KO mice (p<0.05 in the EPM as reflected by shorter time spent in EPM open arms. There were no relevant differences in the LDB and the OF test, except for longer time spent in the center zone of the OF by young WT mice compared to young Fabry KO mice (p<0.05. Complementary to this, depression-like and learning behavior were not different between genotypes and age-groups, except for the expectedly lower memory performance in older age-groups compared to young mice. Our results indicate that genetic influences on affective and cognitive symptoms in FD may be of subordinate relevance, drawing attention to potential influences of environmental and epigenetic factors.

Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta

DEFF Research Database (Denmark)

Wilcox, William R; Feldt-Rasmussen, Ulla; Martins, Ana Maria

2018-01-01

of organ involvement. Although variable, gastrointestinal symptoms are among the most common and significant early clinical manifestations; they tend to persist into adulthood if left untreated. To further understand the effects of sustained enzyme replacement therapy (ERT) with agalsidase beta......Fabry disease, an X-linked inherited lysosomal storage disorder, is caused by mutations in the gene encoding α-galactosidase, GLA. In patients with Fabry disease, glycosphingolipids accumulate in various cell types, triggering a range of cellular and tissue responses that result in a wide spectrum...... on gastrointestinal symptoms in heterozygotes, a data analysis of female patients enrolled in the Fabry Registry was conducted. To be included, females of any age must have received agalsidase beta (average dose 1.0 mg/kg every 2 weeks) for at least 2.5 years. Measured outcomes were self-reported gastrointestinal...

Enzyme replacement therapy for Fabry disease: some answers but more questions

Directory of Open Access Journals (Sweden)

Majid Alfadhel

2011-02-01

Full Text Available Majid Alfadhel1, Sandra Sirrs21Division of Biochemical Diseases, Department of Paediatrics, BC Children’s and Women’s Hospital, University of British Columbia, Vancouver, BC, Canada; 2Adult Metabolic Diseases Clinic, Division of Endocrinology, Department of Medicine, Vancouver Hospital and Health Sciences Centre, University of British Columbia, Vancouver, BC, CanadaAbstract: Fabry disease (FD is a multisystem, X-linked disorder of glycosphingolipid metabolism caused by enzyme deficiency of α-galactosidase A. Affected patients have symptoms including acroparesthesias, angiokeratomas, and hypohidrosis. More serious manifestations include debilitating pain and gastrointestinal symptoms, proteinuria and gradual deterioration of renal function leading to end-stage renal disease, hypertrophic cardiomyopathy, and stroke. Heterozygous females may have symptoms as severe as males with the classic phenotype. Before 2001, treatment of patients with FD was supportive. The successful development of enzyme replacement therapy (ERT has been a great advancement in the treatment of patients with FD and can stabilize renal function and cardiac size, as well as improve pain and quality of life of patients with FD. In this review, we have provided a critical appraisal of the literature on the effects of ERT for FD. This analysis shows that data available on the treatment of FD are often derived from studies which are not controlled, rely on surrogate markers, and are of insufficient power to detect differences on hard clinical endpoints. Further studies of higher quality are needed to answer the questions that remain concerning the efficacy of ERT for FD.Keywords: Fabry disease, agalsidase α, agalsidase β, Replagal, Fabrazyme, critical appraisal, evidence-based medicine

Hearing loss in adult patients with Fabry disease treated with enzyme replacement therapy

NARCIS (Netherlands)

Suntjens, Eefje B.; Smid, Bouwien E.; Biegstraaten, Marieke; Dreschler, Wouter A.; Hollak, Carla E. M.; Linthorst, Gabor E.

2015-01-01

Data on prevalence, natural history, and effect of enzyme replacement therapy (ERT) on hearing loss (HL) in Fabry disease (FD) are scarce. This is a retrospective study with cross-sectional and longitudinal analyses. Low and high-frequency HL in the Dutch FD cohort was studied in four groups:

Recombinant enzyme therapy for Fabry disease: Absence of editing of human alpha-galactosidase A mRNA

NARCIS (Netherlands)

Blom, Daniël; Speijer, Dave; Linthorst, Gabor E.; Donker-Koopman, Wilma G.; Strijland, Anneke; Aerts, Johannes M. F. G.

2003-01-01

For more than a decade, protein-replacement therapy has been employed successfully for the treatment of Gaucher disease. Recently, a comparable therapy has become available for the related lipid-storage disorder Fabry disease. Two differently produced recombinant alpha-galactosidase A (alpha-gal A)

Blood group does not correlate with disease severity in patients with Fabry disease (alpha-galactosidase A deficiency)

NARCIS (Netherlands)

Linthorst, Gabor E.; Folman, Claudia C.; Aerts, Johannes M. F. G.; Hollak, Carla E. M.

2003-01-01

Blood groups B and P1 are substrates for the lysosomal enzyme alpha-galactosidase A. Therefore, patients with alpha-Gal A deficiency and blood groups B or P1 may exhibit more severe disease. In 48 Fabry patients distribution of blood group was not different from that in the Dutch population. No

Non-invasive determination of myocardial lipid content in Fabry disease by 1H-MR spectroscopy

International Nuclear Information System (INIS)

Petritsch, B.; Koestler, H.; Machann, W.; Horn, M.; Weng, A.M.; Goltz, J.P.; Hahn, D.; Beer, M.; Niemann, M.; Weidemann, F.; Wanner, C.

2012-01-01

Purpose: In Fabry disease (FD), a progressive deposition of sphingolipids is reported in different organs. The present study applied 1 H magnetic resonance spectroscopy (MRS) to investigate the myocardial lipid content in FD. Materials and Methods: In patients (PTS, n = 15) with genetically proven FD, 1 H MRS of the heart was acquired in the same examination as routine cardiac cine and late enhancement MR imaging. Healthy volunteers (n = 11) without history of cardiac disease served as control (CTL). Myocardial triglycerides in vivo were quantified in 1 H MRS. Left ventricular (LV) ejection fraction (EF) and late enhancement were assessed for the determination of LV systolic function, and onset or absence of myocardial fibrosis. Results: All 1 H MRS revealed resonances for intramyocardial triglycerides. Clinical parameters, e.g. EF (PTS 64 ± 2 % vs. CTL 61 ± 1 %) were similar in PTS and CTL or showed a non-significant trend (LV mass). Apart from a single patient with elevated myocardial triglycerides, no significant impact of Fabry disease on the triglyceride/water resonance ratio (PTS 0.47 ± 0.11 vs. CTL 0.52 ± 0.11 %) was observed in our patient cohort. Conclusion: A comprehensive cardiac evaluation of morphology, function as well as metabolism in Fabry PTS with suspected cardiac involvement is feasible in a single examination. No significant effect of myocardial triglyceride deposition could be observed in patients. The remarkably high myocardial triglyceride content in one patient with advanced FD warrants further studies in PTS with an extended history of the disease. (orig.)

[Clinical and histological findings in Fabry nephropathy].

Science.gov (United States)

Pieruzzi, Federico; Salerno, Fabio; Di Giacomo, Antonella; Torti, Giacomo; Ferrario, Franco; Pagni, Fabio; Stella, Andrea

2013-01-01

Fabry disease is a complex pathology, requiring a multidisciplinar approach both in the diagnostic workout and in the management of therapy. Clinical criteria able to predict its morbidity have not yet been found. The wide variability of clinical signs and symptoms requires an individual approach based on the single patient, in order to achieve an optimal management. Enzyme replacement therapy (ERT) has been introduced in the clinical setting for over ten years, but its ability to change the course of the disease has not yet been clearly proved. Recently the hypothesis that ERT may be ineffective in patients with severe organ involvement has emerged. The clinical course of Fabry disease is usually slower in eterozygous women than emizygous men, but can be frequently associated to severe organ failure and premature death in both cases. In this review we discuss the histological aspects of Fabry nephropathy in relation to diagnosis, prognosis, therapy and its effectiveness.

[Court-ordered access to treatment of rare genetic diseases: Fabry Disease in the state of Rio Grande do Sul, Brazil].

Science.gov (United States)

Sartori Junior, Dailor; Leivas, Paulo Gilberto Cogo; Souza, Mônica Vinhas de; Krug, Bárbara Corrêa; Balbinotto, Giacomo; Schwartz, Ida Vanessa Doederlein

2012-10-01

Court-ordered access to high-cost drugs for rare genetic diseases, such as Fabry Disease (alpha-galactosidase-A deficiency), is a growing phenomenon as yet lacking systematic study. An observational, cross-sectional and retrospective study was conducted to characterize the lawsuits related to access to treatment for Fabry Disease by Enzyme Replacement Therapy in the State of Rio Grande do Sul prior to 2007. The study identified 13 lawsuits and 17 plaintiffs, 11 requesting alfa and 6 betagalsidase. The State of RS, the Federal Government, and 5 municipalities figured as defendants, in the form of joinder of parties or otherwise. There were 13 requests for interlocutory relief of which 12 were granted, and 2 sentences were handed down, both favorable. "Risk of death" was alleged by doctors in 4 prescriptions and by lawyers in the 13 lawsuits. The data suggest the lack of discussions combining aspects of medical efficacy and safety, cost-effectiveness, economic impact, and legal and constitutional arguments, which requires a specific policy for rare genetic diseases to standardize access to treatment.

Occupational skin diseases

DEFF Research Database (Denmark)

Mahler, V; Aalto-Korte, K; Alfonso, J H

2017-01-01

BACKGROUND: Work-related skin diseases (WSD) are caused or worsened by a professional activity. Occupational skin diseases (OSD) need to fulfil additional legal criteria which differ from country to country. OSD range amongst the five most frequently notified occupational diseases (musculoskeletal...... diseases, neurologic diseases, lung diseases, diseases of the sensory organs, skin diseases) in Europe. OBJECTIVE: To retrieve information and compare the current state of national frameworks and pathways to manage patients with occupational skin disease with regard to prevention, diagnosis, treatment...... in Science and Technology (COST) Action TD 1206 (StanDerm) (www.standerm.eu). RESULTS: Besides a national health service or a statutory health insurance, most European member states implemented a second insurance scheme specifically geared at occupational diseases [insurance against occupational risks...

Mutations of alpha-galactosidase A gene in two unusual cases of Fabry disease

NARCIS (Netherlands)

Beyer, EM; Kopishinskaya, SV; Van Amstel, JKP; Tsvetkova, [No Value

1999-01-01

The mutation analysis of alpha-galactosidase A gene was carried out in two families with Fabry disease described by us earlier. In the family P. a new point mutation E341K (a G to A transition at position 10999 of the gene) was identified. The mutation causes a Glu341Lys substitution in

Skin Diseases: Cross-section of human skin

Science.gov (United States)

Skip Navigation Bar Home Current Issue Past Issues Skin Diseases Cross-section of human skin Past Issues / Fall 2008 Table of Contents For ... Logical Images, Inc. I n the areas of skin health and skin diseases, the NIH's National Institute ...

Infrared imaging microscopy of bone: illustrations from a mouse model of Fabry disease.

Science.gov (United States)

Boskey, Adele L; Goldberg, Michel; Kulkarni, Ashok; Gomez, Santiago

2006-07-01

Bone is a complex tissue whose composition and properties vary with age, sex, diet, tissue type, health and disease. In this review, we demonstrate how infrared spectroscopy and infrared spectroscopic imaging can be applied to the study of these variations. A specific example of mice with Fabry disease (a lipid storage disease) is presented in which it is demonstrated that the bones of these young animals, while showing typical spatial variation in mineral content, mineral crystal size, and collagen maturity, do not differ from the bones of age- and sex-matched wild type animals.

Vertebrobasilar Dolichoectasia in Fabry Disease

Directory of Open Access Journals (Sweden)

Juan Politei

2014-06-01

Full Text Available Introduction: Fabry disease (FD is a lysosomal storage disorder associated with marked cerebrovascular involvement. Conventional magnetic resonance imaging (MRI shows different abnormalities, like white matter lesions that may already be present at an early stage in the disease. Aim: To present observations from a series of brain MRIs performed among a cohort of patients with FD and the relationship of imaging abnormalities with the presence of cardiovascular risk factors (CVRFs. Methods: A total of 70 patients with FD (43 women were enrolled. The cardiac, renal, ophthalmic, and peripheral nerve functioning was assessed. The MRI evaluation included assessment for evidence of ischemia, microbleeds, pulvinar sign, Arnold-Chiari type 1 malformation, and vertebrobasilar dolichoectasia (VBD. The presence or absence of CVRFs was examined for all patients. Results: Renal involvement was found in 60%, cardiac compromise in 30%, cornea verticillata in 91.4%, and acroparesthesias in 87.1% of patients. Brain MRI analysis found evidence of cerebral ischemic injury in 25.9% of men and 30.2% of women. Vertebrobasilar dolichoectasia was observed in imaging from 55.5% of men and 34.8% of women. The logistic regression analysis adjusted for cardiovascular risks factors, using ischemia or VBD as a dependent variable, showed no statistically significant results. Discussion: Our results have demonstrated cerebrovascular involvement before the third decade in many patients with FD. This study is further evidence confirming that women are not just carriers of FD and should be followed clinically and evaluated comprehensively to monitor for disease burden and progression. Although silent brain ischemias in MRI should be included as a key feature for the diagnoses of FD, VBD is an earlier and frequent sign.

Auditing the frequency and the clinical and economic impact of testing for Fabry disease in patients under the age of 70 with a stroke admitted to Saint Vincent's University Hospital over a 6-month period.

Science.gov (United States)

Lambe, J; Noone, I; Lonergan, R; Tubridy, N

2018-02-01

Fabry disease is an X-linked recessive lysosomal storage disorder that provokes multi-organ morbidity, including early-onset stroke. Worldwide prevalence may be greater than previously estimated, with many experiencing first stroke prior to diagnosis of Fabry disease. The aim of this study is to screen a cohort of stroke patients under 70 years of age, evaluating the clinical and economic efficacy of such a broad screening programme for Fabry disease. All stroke patients under 70 years of age who were entered into the Saint Vincent's University Hospital stroke database over a 6-month period underwent enzyme analysis and/or genetic testing as appropriate for Fabry disease. Patients' past medical histories were analysed for clinical signs suggestive of Fabry disease. Cost-effectiveness analysis of testing was performed and compared to overall economic impact of young stroke in Ireland. Of 22 patients tested for Fabry disease, no new cases were detected. Few clinical indicators of Fabry disease were identified at the time of testing. Broad screening programmes for Fabry disease are highly unlikely to offset the cost of testing. The efficacy of future screening programmes will depend on careful selection of an appropriate patient cohort of young stroke patients with multi-organ morbidity and a positive family history.

Non-invasive determination of myocardial lipid content in Fabry disease by {sup 1}H-MR spectroscopy

Energy Technology Data Exchange (ETDEWEB)

Petritsch, B.; Koestler, H.; Machann, W.; Horn, M.; Weng, A.M.; Goltz, J.P.; Hahn, D.; Beer, M. [Universitaetsklinikum Wuerzburg (Germany). Inst. fuer Roentgendiagnostik im ZOM; Niemann, M.; Weidemann, F.; Wanner, C. [Universitaetsklinikum Wuerzburg (Germany). Medizinische Klinik I

2012-11-15

Purpose: In Fabry disease (FD), a progressive deposition of sphingolipids is reported in different organs. The present study applied {sup 1}H magnetic resonance spectroscopy (MRS) to investigate the myocardial lipid content in FD. Materials and Methods: In patients (PTS, n = 15) with genetically proven FD, {sup 1}H MRS of the heart was acquired in the same examination as routine cardiac cine and late enhancement MR imaging. Healthy volunteers (n = 11) without history of cardiac disease served as control (CTL). Myocardial triglycerides in vivo were quantified in {sup 1}H MRS. Left ventricular (LV) ejection fraction (EF) and late enhancement were assessed for the determination of LV systolic function, and onset or absence of myocardial fibrosis. Results: All {sup 1}H MRS revealed resonances for intramyocardial triglycerides. Clinical parameters, e.g. EF (PTS 64 {+-} 2 % vs. CTL 61 {+-} 1 %) were similar in PTS and CTL or showed a non-significant trend (LV mass). Apart from a single patient with elevated myocardial triglycerides, no significant impact of Fabry disease on the triglyceride/water resonance ratio (PTS 0.47 {+-} 0.11 vs. CTL 0.52 {+-} 0.11 %) was observed in our patient cohort. Conclusion: A comprehensive cardiac evaluation of morphology, function as well as metabolism in Fabry PTS with suspected cardiac involvement is feasible in a single examination. No significant effect of myocardial triglyceride deposition could be observed in patients. The remarkably high myocardial triglyceride content in one patient with advanced FD warrants further studies in PTS with an extended history of the disease. (orig.)

High-Risk Screening for Fabry Disease: Analysis by Tandem Mass Spectrometry of Globotriaosylceramide (Gb3 ) in Urine Collected on Filter Paper.

Science.gov (United States)

Auray-Blais, Christiane; Lavoie, Pamela; Boutin, Michel; Abaoui, Mona

2017-04-06

Fabry disease is a complex, panethnic lysosomal storage disorder. It is characterized by the accumulation of glycosphingolipids in tissues, organs, the vascular endothelium, and biological fluids. The reported incidence in different populations is quite variable, ranging from 1:1400 to 1:117,000. Its complexity lies in the marked genotypic and phenotypic heterogeneity. Despite the fact that it is an X-linked disease, more than 600 mutations affect both males and females. In fact, some females may be affected as severely as males. The purpose of this protocol is to focus on the high-risk screening of patients who might have Fabry disease using a simple, rapid, non-invasive high performance liquid chromatography-tandem mass spectrometry (HPLC-MS/MS) method for urinary globotriaosylceramide (Gb 3 ) analysis. Urine filter paper samples are easily collected at home by patients and sent by regular mail. This method has been successfully used for high-risk screening of patients with ophthalmologic manifestations and in an on-going study for high-risk screening of Fabry disease in patients with chronic kidney diseases. © 2017 by John Wiley & Sons, Inc. Copyright © 2017 John Wiley & Sons, Inc.

Skin Examination: An Important Diagnostic Tool in Renal Failure Patients.

Science.gov (United States)

Van de Velde-Kossmann, Karen M

2018-01-01

Renal failure is common in the United States with an estimated prevalence of 660,000 treated end-stage renal disease patients in 2015 [1]. Causes of renal failure are many, and complications from renal failure, underlying disease, and treatment are not infrequent. Examples of common skin manifestations include xerosis, pigmentary change, and nail dystrophies. Frequent disease-specific skin changes may be helpful in the diagnosis of primary disorders leading to renal disease or severity of disease including bullosis diabeticorum, sclerodactyly, or leukoctoclastic vasculitis. Some cutaneous changes, such as the multiple angiokeratomas of Fabry disease or the plexiform neurofibromas of neurofibromatosis, are pathognomonic of genetic disorders, which often lead to renal failure. Careful examination of the skin can provide crucial clues to diagnosis of renal failure causation and aid in monitoring complications. © 2018 S. Karger AG, Basel.

Prevalence of Fabry Disease and Outcomes in Young Canadian Patients With Cryptogenic Ischemic Cerebrovascular Events.

Science.gov (United States)

Lanthier, Sylvain; Saposnik, Gustavo; Lebovic, Gerald; Pope, Karen; Selchen, Daniel; Moore, David F

2017-07-01

Previous studies reported Fabry disease in 0% to 4% of young patients with cryptogenic ischemic stroke (IS). We sought to determine the prevalence of Fabry and outcomes among young Canadians with cryptogenic IS or transient ischemic attack (TIA). We prospectively enrolled individuals aged 18 to 55 with IS or speech or motor TIA, and no cause identified despite predetermined investigation. α-galactosidase-A gene was sequenced for Fabry diagnosis. National Institutes of Health Stroke Scale score was measured at presentation to quantify stroke severity. Modified Rankin Scale determined functional outcomes ≤7 days after presentation and 6 months later. We enrolled 365 patients with IS and 32 with TIA. α-galactosidase-A sequencing identified a single carrier of a genetic variant of unknown significance (p.R118C) and no well-recognized pathogenic variants. Mean National Institutes of Health Stroke Scale score was 3.1. Proportion of patients with modified Rankin Scale of 0 to 2 was 70.7% at ≤7 days and 87.4% at 6 months. National Institutes of Health Stroke Scale score at presentation and diabetes mellitus predicted 6-month modified Rankin Scale. Thirteen patients experienced 5 recurrent IS and 9 TIA during follow-up. No patient died. Most patients (98.7%) returned home. Among previous workers, 43% had residual working limitations. In this Canadian cohort of patients with cryptogenic IS or TIA, the prevalence of Fabry was 0.3% if p.R118C variant is considered as pathogenic. This suggests that more cost-effective methods should be applied for diagnosis of Fabry rather than systematic genetic screening in this population. Overall, cryptogenic IS in young adults is associated with favorable outcomes. © 2017 American Heart Association, Inc.

AB018. Revisited later-onset cardiac type Fabry disease—cardiac damages progressed in silence—experiences from an extremely high prevalent area, Taiwan

OpenAIRE

Niu, Dau-Ming; Hsu, Ting-Rong; Yang, Chia-Feng; Chu, Tzu-Hung; Chiang, Chuan-Chi; Ho, Hui-Chen

2015-01-01

All of the current newborn screening studies of Fabry disease revealed that the incidences of later-onset Fabry disease in their studied populations were much higher than the previous expectancy. It reveals that later-onset Fabry disease could be an important hidden health issue in some populations or even a lot of populations. However, the natural course of later-onset Fabry disease is still largely unknown. A total of 792,247 newborns have been screened for Fabry disease by our team in Taiw...

Identification of novel mutations in the α-galactosidase A gene in patients with Fabry disease: pitfalls of mutation analyses in patients with low α-galactosidase A activity.

Science.gov (United States)

Yoshimitsu, Makoto; Higuchi, Koji; Miyata, Masaaki; Devine, Sean; Mattman, Andre; Sirrs, Sandra; Medin, Jeffrey A; Tei, Chuwa; Takenaka, Toshihiro

2011-05-01

Fabry disease is an X-linked lysosomal storage disorder caused by mutations of the α-galactosidase A (GLA) gene, and the disease is a relatively prevalent cause of left ventricular hypertrophy followed by conduction abnormalities and arrhythmias. Mutation analysis of the GLA gene is a valuable tool for accurate diagnosis of affected families. In this study, we carried out molecular studies of 10 unrelated families diagnosed with Fabry disease. Genetic analysis of the GLA gene using conventional genomic sequencing was performed in 9 hemizygous males and 6 heterozygous females. In patients with no mutations in coding DNA sequence, multiplex ligation-dependent probe amplification (MLPA) and/or cDNA sequencing were performed. We identified a novel exon 2 deletion (IVS1_IVS2) in a heterozygous female by MLPA, which was undetectable by conventional sequencing methods. In addition, the g.9331G>A mutation that has previously been found only in patients with cardiac Fabry disease was found in 3 unrelated, newly-diagnosed, cardiac Fabry patients by sequencing GLA genomic DNA and cDNA. Two other novel mutations, g.8319A>G and 832delA were also found in addition to 4 previously reported mutations (R112C, C142Y, M296I, and G373D) in 6 other families. We could identify GLA gene mutations in all hemizygotes and heterozygotes from 10 families with Fabry disease. Mutations in 4 out of 10 families could not be identified by classical genomic analysis, which focuses on exons and the flanking region. Instead, these data suggest that MLPA analysis and cDNA sequence should be considered in genetic testing surveys of patients with Fabry disease. Copyright © 2011 Japanese College of Cardiology. Published by Elsevier Ltd. All rights reserved.

Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance

NARCIS (Netherlands)

Smid, B.E.; Hollak, C.E.M.; Poorthuis, B.J.H.M.; Bergh-Weerman, M.A. van den; Florquin, S.; Kok, W.E.; Deprez, R.H.L.; Timmermans, J.; Linthorst, G.E.

2015-01-01

Fabry disease' (FD) phenotype is heterogeneous: alpha-galactosidase A gene mutations (GLA) can lead to classical or non-classical FD, or no FD. The aim of this study is to describe pitfalls in diagnosing non-classical FD and assess the diagnostic value of plasma globotriaosylsphingosine. This is a

Accidente cerebro-vascular en la enfermedad de Fabry: Algo más que una simple estenosis Stroke in Fabry disease: More than a simple stenosis

Directory of Open Access Journals (Sweden)

Juan Manuel Politei

2006-10-01

Full Text Available Se analiza la evidencia existente a la fecha sobre los mecanismos fisiopatológicos que pueden generar accidentes cerebrovasculares en la enfermedad de Fabry. Esta entidad es el resultado de la deficiencia de a-galactosidasa A, lo que resulta en depósito patológico de glicoesfingilípidos en distintas poblaciones celulares. Asociados a la insuficiencia renal y cardíaca, los accidentes cerebrovasculares pueden derivar en la muerte de los pacientes. Durante mucho tiempo el único mecanismo generador de daño vascular informado fue la oclusión vascular por depósito lipídico a nivel endotelial. En la actualidad se describen otros mecanismos. El advenimiento de la terapia de reemplazo enzimático ha generado gran expectativa en cuanto la posibilidad de reversión de estos mecanismos. Si bien la evidencia es escasa y son necesarios más estudios a largo plazo, algunos informes demuestran que luego de meses, el tratamiento ha logrado revertir algunos de los mecanismos implicados.The objective is to analyze the updated evidence on the physiopathological mechanisms that can generate cerebrovascular damage in Fabry disease. Fabry disease is the result of the deficiency of a-galactosidasa A, which causes pathological storage of glycosphingolipids, in different cells. Associated to renal and cardiac insufficiency, cerebrovascular complications can derive in the death of the patients. During a long time the only reported mechanism was the vascular occlusion by deposit of lipids at endothelial level. At the present time, other mechanisms are postulated. The arrival of enzyme replacement therapy has generated great expectation on the possibility of reversion of these alterations. Although the evidence is scarce and more long term studies are necessary, some reports demonstrate that after months, the treatment has managed to revert some of the mechanisms involved.

Guidelines to start enzyme replacement therapy in classic Fabry Disease patients in Latin America

Directory of Open Access Journals (Sweden)

Juan Manuel Politei

2017-01-01

Full Text Available Introduction: Fabry disease is a rare inherited X-linked disorder resulting from the absence or deficient activity of the α-galactosidase A enzyme. Objetive: To provide the first guideline on the best time to start enzyme replacement therapy to treat classic Fabry disease, based on the knowledge and experience of experts from ten Latin American countries: Argentina, Brazil, Colombia, Costa Rica, Chile, Ecuador, Mexico, Peru, Uruguay and Venezuela. Methods: The project coordinator designed a survey based on the criteria for starting the treatment which are established in different international guidelines published to date. This document was later sent to all the participants for its evaluation. Results: Fifty experts responded to the survey, whose criteria was divided into 5 sections according to specialty, and they arrived at a consensus. Discussion: The criteria for an early treatment were defined given the growing evidence of a better response and prognosis associated with it. Conclusion: We believe that the importance of this guideline relies on the participation of experts from ten Latin American countries. However, as it deals with a systemic disease whose physiopathological mechanisms and complications are still being described, some manifestations have not been included in the criteria, making it necessary to revise this guideline in order to report any changes that may arise in the future.

A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance

NARCIS (Netherlands)

van der Tol, L.; Smid, B. E.; Poorthuis, B. J. H. M.; Biegstraaten, M.; Deprez, R. H. Lekanne; Linthorst, G. E.; Hollak, C. E. M.

2014-01-01

Screening for Fabry disease (FD) reveals a high prevalence of individuals with α-galactosidase A (GLA) genetic variants of unknown significance (GVUS). These individuals often do not express characteristic features of FD. A systematic review on FD screening studies was performed to interpret the

The histological basis of late gadolinium enhancement cardiovascular magnetic resonance in a patient with Anderson-Fabry disease

OpenAIRE

Moon, J. C.; Sheppard, M.; Reed, E.; Lee, P.; Elliott, P. M.; Pennell, D. J.

2006-01-01

Anderson-Fabry Disease (AFD) is a storage disease that mimics hypertrophic cardiomyopathy. Late gadolinium enhancement (LGE) by cardiovascular magnetic resonance occurs in approximately 50% of patients in the basal inferolateral LV wall, but how an intracellular storage disease causes focal LGE is unknown. We present a whole-heart histological validation that LGE is caused by focal myocardial collagen scarring. This scarring may be the substrate for electrical re-entry and sudden arrhythmic d...

Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA mass spectrometry.

Science.gov (United States)

Lu, Yung-Hsiu; Huang, Po-Hsun; Wang, Li-Yun; Hsu, Ting-Rong; Li, Hsing-Yuan; Lee, Pi-Chang; Hsieh, Yu-Ping; Hung, Sheng-Che; Wang, Yu-Chen; Chang, Sheng-Kai; Lee, Ya-Ting; Ho, Ping-Hsun; Ho, Hui-Chen; Niu, Dau-Ming

2018-01-01

Many female carriers of Fabry disease are likely to develop severe morbidity and mortality. However, by our own estimation, around 80% of female newborns are missed by our current enzyme-based screening approach. Our team's aim was to develop an improved cost-effective screening method that is able to detect Fabry disease among female newborns. In Taiwan, based on a database of 916,000 newborns, ~98% of Fabry patients carry mutations out of a pool of only 21 pathogenic mutations. An Agena iPLEX platform was designed to detect these 21 pathogenic mutations using only a single-assay panel. A total of 54,791 female infants were screened and 136 female newborns with the IVS4 + 919G > A mutation and one female newborn with the c.656T > C mutation were identified. Using the current enzyme-based newborn screening approach as baseline, around 83% of female newborns are being missed. Through a family study of the IVS4 female newborns, 30 IVS4 adult family members were found to have left ventricular hypertrophy. Ten patients received endomyocardial biopsy and all were found to have significant globotriaosylceramide (Gb3) accumulation in their cardiomyocytes. All of these individuals now receive enzyme replacement therapy. We have demonstrated that the Agena iPLEX assay is a powerful tool for detecting females with Fabry disease. Furthermore, through this screening, we also have been able to identify many disease-onset adult family members who were originally undiagnosed for Fabry disease. This screening helps them to receive treatment in time before severe and irreversible cardiac damage has occurred.

Enfermedad de Fabry: Comunicación de ocho casos Fabry disease: Report of eight cases

Directory of Open Access Journals (Sweden)

M Palombo

2011-12-01

Full Text Available La Enfermedad de Fabry (EF constituye una alteración hereditaria del metabolismo de los glicoesfingolípidos, debida a la deficiencia parcial o completa de la enzima alfa-galactosidasa A. Es una enfermedad de transmisión genética ligada a X, que afecta universalmente a todas las etnias humanas con una incidencia comunicada de 1 cada 100.000 nacimientos, aunque es probable que esta cifra subestime la real prevalencia de la enfermedad, especialmente por el gran número de casos no diagnosticados. La EF se manifiesta en su forma más florida, en varones homocigotas que carecen completamente de actividad alfa-galactosidasa A, provocando una miríada de alteraciones, incluyendo anomalías renales (proteinuria progresiva e insuficiencia renal, cardiovasculares (cardiopatías, arritmias, accidentes cerebrovasculares, neurológicas (dolor acral y abdominal, y cocleo-vestibulares, entre las más importantes. Sin embargo, la afectación cutánea constituye la alteración más específica de la enfermedad y es en general, la que conduce a la sospecha diagnóstica. La EF no tratada reduce francamente la expectativa de vida de acuerdo a la severidad de la afectación renal y cardiovascular, si bien la terapia con reemplazo enzimático puede modificar e incluso detener el curso de la enfermedad. En 2010, una paciente de 28 años oriunda de la Provincia de Santa Fe, consultó porangioqueratomas, que condujeron al diagnóstico de enfermedad de Fabry. Desde entonces hemos estudiado y tratado a toda la familia, con ocho casos confirmados a la fecha y otros tantos en evaluación.Fabry disease (Online Mendelian Inheritance in Man No. 301500 is an X-linked inherited condition due to absence or reduction of ɑ galactosidase activity in lysosomes that results in accumulation of globotriaosylceramide and related neutral glycosphingolipids (storage disorder. It is estimated to occur in 1 in 40.000 to 117.000 live male births, although a more recent screening study in

A distinct urinary biomarker pattern characteristic of female Fabry patients that mirrors response to enzyme replacement therapy.

Directory of Open Access Journals (Sweden)

Andreas D Kistler

Full Text Available Female patients affected by Fabry disease, an X-linked lysosomal storage disorder, exhibit a wide spectrum of symptoms, which renders diagnosis, and treatment decisions challenging. No diagnostic test, other than sequencing of the alpha-galactosidase A gene, is available and no biomarker has been proven useful to screen for the disease, predict disease course and monitor response to enzyme replacement therapy. Here, we used urine proteomic analysis based on capillary electrophoresis coupled to mass spectrometry and identified a biomarker profile in adult female Fabry patients. Urine samples were taken from 35 treatment-naïve female Fabry patients and were compared to 89 age-matched healthy controls. We found a diagnostic biomarker pattern that exhibited 88.2% sensitivity and 97.8% specificity when tested in an independent validation cohort consisting of 17 treatment-naïve Fabry patients and 45 controls. The model remained highly specific when applied to additional control patients with a variety of other renal, metabolic and cardiovascular diseases. Several of the 64 identified diagnostic biomarkers showed correlations with measures of disease severity. Notably, most biomarkers responded to enzyme replacement therapy, and 8 of 11 treated patients scored negative for Fabry disease in the diagnostic model. In conclusion, we defined a urinary biomarker model that seems to be of diagnostic use for Fabry disease in female patients and may be used to monitor response to enzyme replacement therapy.

Quantitative comparison of 2D and 3D late gadolinium enhancement MR imaging in patients with Fabry disease and hypertrophic cardiomyopathy.

Science.gov (United States)

Morsbach, F; Gordic, S; Gruner, C; Niemann, M; Goetti, R; Gotschy, A; Kozerke, S; Alkadhi, H; Manka, R

2016-08-15

This study aims to determine whether the quantification of myocardial fibrosis in patients with Fabry disease (FD) and hypertrophic cardiomyopathy (HCM) using a late gadolinium enhancement (LGE) singlebreath-hold three-dimensional (3D) inversion recovery magnetic resonance (MR) imaging sequence is comparable with a clinically established two-dimensional (2D) multi-breath-hold sequence. In this retrospective, IRB-approved study, 40 consecutive patients (18 male; mean age 50±17years) with Fabry disease (n=18) and HCM (n=22) underwent MR imaging at 1.5T. Spatial resolution was the same for 3D and 2D images (field-of-view, 350×350mm(2); in-plane-resolution, 1.2×1.2mm(2); section-thickness, 8mm). Datasets were analyzed for subjective image quality; myocardial and fibrotic mass, and total fibrotic tissue percentage were quantified. There was no significant difference in subjective image quality between 3D and 2D acquisitions (P=0.1 and P=0.3) for either disease. In patients with Fabry disease there were no significant differences between 3D and 2D acquisitions for myocardial mass (P=0.55), fibrous tissue mass (P=0.89), and total fibrous percentage (P=0.67), with good agreement between acquisitions according to Bland-Altman analyses. In patients with HCM there were also no significant differences between acquisitions for myocardial mass (P=0.48), fibrous tissue mass (P=0.56), and total fibrous percentage (P=0.67), with good agreement according to Bland-Altman analyses. Acquisition time was significantly shorter for 3D (25±5s) as compared to the 2D sequence (349±62s, P<0.001). In patients with Fabry disease and HCM, 3D LGE imaging provides equivalent diagnostic information in regard to quantification of myocardial fibrosis as compared with a standard 2D sequence, but at superior acquisition speed. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Skin disease prevalence study in schoolchildren in rural Côte d'Ivoire: Implications for integration of neglected skin diseases (skin NTDs).

Science.gov (United States)

Yotsu, Rie Roselyne; Kouadio, Kouamé; Vagamon, Bamba; N'guessan, Konan; Akpa, Amari Jules; Yao, Aubin; Aké, Julien; Abbet Abbet, Rigobert; Tchamba Agbor Agbor, Barbine; Bedimo, Roger; Ishii, Norihisa; Fuller, L Claire; Hay, Roderick; Mitjà, Oriol; Drechsler, Henning; Asiedu, Kingsley

2018-05-01

Early detection of several skin-related neglected tropical diseases (skin NTDs)-including leprosy, Buruli ulcer, yaws, and scabies- may be achieved through school surveys, but such an approach has seldom been tested systematically on a large scale in endemic countries. Additionally, a better understanding of the spectrum of skin diseases and the at-risk populations to be encountered during such surveys is necessary to facilitate the process. We performed a school skin survey for selected NTDs and the spectrum of skin diseases, among primary schoolchildren aged 5 to 15 in Côte d'Ivoire, West Africa. This 2-phase survey took place in 49 schools from 16 villages in the Adzopé health district from November 2015 to January 2016. The first phase involved a rapid visual examination of the skin by local community healthcare workers (village nurses) to identify any skin abnormality. In a second phase, a specialized medical team including dermatologists performed a total skin examination of all screened students with any skin lesion and provided treatment where necessary. Of a total of 13,019 children, 3,504 screened positive for skin lesions and were listed for the next stage examination. The medical team examined 1,138 of these children. The overall prevalence of skin diseases was 25.6% (95% CI: 24.3-26.9%). The predominant diagnoses were fungal infections (n = 858, prevalence: 22.3%), followed by inflammatory skin diseases (n = 265, prevalence: 6.9%). Skin diseases were more common in boys and in children living along the main road with heavy traffic. One case of multi-bacillary type leprosy was detected early, along with 36 cases of scabies. Our survey was met with very good community acceptance. We carried out the first large-scale integrated, two-phase pediatric multi-skin NTD survey in rural Côte d'Ivoire, effectively reaching a large population. We found a high prevalence of skin diseases in children, but only limited number of skin NTDs. With the lessons learned

The histological basis of late gadolinium enhancement cardiovascular magnetic resonance in a patient with Anderson-Fabry disease.

Science.gov (United States)

Moon, James C; Sheppard, Mary; Reed, Emma; Lee, Phillip; Elliott, Perry M; Pennell, Dudley J

2006-01-01

Anderson-Fabry Disease (AFD) is a storage disease that mimics hypertrophic cardiomyopathy. Late gadolinium enhancement (LGE) by cardiovascular magnetic resonance occurs in approximately 50% of patients in the basal inferolateral LV wall, but how an intracellular storage disease causes focal LGE is unknown. We present a whole-heart histological validation that LGE is caused by focal myocardial collagen scarring. This scarring may be the substrate for electrical re-entry and sudden arrhythmic death. The reasons for this distribution of fibrosis are unclear, but may reflect inhomogeneous left ventricular wall stress.

Receptor-mediated endocytosis of α-galactosidase A in human podocytes in Fabry disease.

Directory of Open Access Journals (Sweden)

Thaneas Prabakaran

Full Text Available Injury to the glomerular podocyte is a key mechanism in human glomerular disease and podocyte repair is an important therapeutic target. In Fabry disease, podocyte injury is caused by the intracellular accumulation of globotriaosylceramide. This study identifies in the human podocyte three endocytic receptors, mannose 6-phosphate/insulin-like growth II receptor, megalin, and sortilin and demonstrates their drug delivery capabilities for enzyme replacement therapy. Sortilin, a novel α-galactosidase A binding protein, reveals a predominant intracellular expression but also surface expression in the podocyte. The present study provides the rationale for the renal effect of treatment with α-galactosidase A and identifies potential pathways for future non-carbohydrate based drug delivery to the kidney podocyte and other potential affected organs.

Smoking and skin disease

DEFF Research Database (Denmark)

Thomsen, S F; Sørensen, L T

2010-01-01

Tobacco smoking is a serious and preventable health hazard that can cause or exacerbate a number of diseases and shorten life expectancy, but the role of smoking as an etiologic factor in the development of skin disease is largely unknown. Although epidemiological evidence is sparse, findings...... suggest that tobacco smoking is a contributing factor in systemic lupus erythematosus, psoriasis, palmoplantar pustulosis, cutaneous squamous cell carcinoma, hidradenitis suppurativa, and genital warts. In contrast, smoking may confer some protective effects and mitigate other skin diseases, notably...... pemphigus vulgaris, pyoderma gangrenosum, aphthous ulcers, and Behçet's disease. Various degenerative dermatologic conditions are also impacted by smoking, such as skin wrinkling and dysregulated wound healing, which can result in post-surgical complications and delayed or even arrested healing of chronic...

In Patients with an α-Galactosidase A Variant, Small Nerve Fibre Assessment Cannot Confirm a Diagnosis of Fabry Disease

NARCIS (Netherlands)

van der Tol, Linda; Verhamme, Camiel; van Schaik, Ivo N.; van der Kooi, Anneke J.; Hollak, Carla E. M.; Biegstraaten, Marieke

2016-01-01

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by an α-galactosidase A enzyme deficiency due to pathogenic variants in the α-galactosidase A gene (GLA). An increasing number of individuals with a GLA variant, but without characteristic FD features, are identified. A definite

Myocardial fibrosis as the first sign of cardiac involvement in a male patient with Fabry disease: report of a clinical case and discussion on the utility of the magnetic resonance in Fabry pathology

OpenAIRE

Sechi, Annalisa; Nucifora, Gaetano; Piccoli, Gianluca; Dardis, Andrea; Bembi, Bruno

2014-01-01

Background Cardiovascular magnetic resonance (CMR) with late gadolinium enhancement (LGE) imaging is increasingly used to assess myocardial involvement in patients with Fabry disease, an X linked lipid storage disorder. However, it is often proposed as an optional tool. A different cardiomyopathic disease progression between male and female patients was hypothesised in previous studies, as in female myocardial fibrosis was found without left ventricular (LV) hypertrophy, while myocardial fibr...

High?Sensitivity Troponin: A Clinical Blood Biomarker for Staging Cardiomyopathy in Fabry Disease

OpenAIRE

2016-01-01

Background High?sensitivity troponin (hs?TNT), a biomarker of myocardial damage, might be useful for assessing fibrosis in Fabry cardiomyopathy. We performed a prospective analysis of hs?TNT as a biomarker for myocardial changes in Fabry patients and a retrospective longitudinal follow?up study to assess longitudinal hs?TNT changes relative to fibrosis and cardiomyopathy progression. Methods and Results For the prospective analysis, hs?TNT from 75 consecutive patients with genetically confirm...

Skin Manifestations of Endocrine Diseases.

Science.gov (United States)

Demirkesen, Cuyan

2015-01-01

Endocrine diseases may result in changes in cutaneous function and morphology, which cause various skin manifestations, including nonspecific or pathognomonic signs. Some of these manifestations are already known dermatologic diseases with only increased frequency in this patient group. As a result the skin may the play role of a screen displaying endocrine disorders, either due to hormone excess or deficiency. Awareness of the skin manifestations may permit prompt and adequate approach to the patients, and therefore facilitate the early diagnosis of the endocrine disease and even be life saving. Some of these manifestations may be recognized clinically, but sometimes they need to be confirmed histopathologically. In this article, many endocrine diseases and their associated skin lesions will be reviewed briefly.

Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy

Czech Academy of Sciences Publication Activity Database

Vyleťal, P.; Hůlková, H.; Živná, M.; Berná, L.; Novák, Petr; Elleder, M.; Kmoch, S.

2008-01-01

Roč. 31, č. 4 (2008), s. 508-517 ISSN 0141-8955 Institutional research plan: CEZ:AV0Z50200510 Keywords : uromodulin * fabry disease * tubular cell Subject RIV: EE - Microbiology, Virology Impact factor: 2.691, year: 2008

Fabry disease: renal sphingolipid distribution in the alpha-Gal A knockout mouse model by mass spectrometric and immunohistochemical imaging

Czech Academy of Sciences Publication Activity Database

Kuchař, L.; Faltýsková, Helena; Ledvinová, J.; Krásný, Lukáš; Dobrovolný, R.; Hůlková, H.; Volný, Michael; Strohalm, Martin; Lemr, Karel; Kryšpínová, L.; Asfaw, B.; Rybová, J.; Desnick, R.J.; Havlíček, Vladimír

2015-01-01

Roč. 407, č. 8 (2015), s. 2283-2291 ISSN 1618-2642 R&D Projects: GA MŠk(CZ) LD13038; GA ČR(CZ) GAP206/12/1150 Institutional support: RVO:61388971 Keywords : Fabry disease * Kidney * Glycosphingolipids Subject RIV: CE - Biochemistry Impact factor: 3.125, year: 2015

Skin Diseases: Skin and Sun—Not a good mix

Science.gov (United States)

Skip Navigation Bar Home Current Issue Past Issues Skin Diseases Skin and Sun —Not a good mix Past Issues / ... of this page please turn Javascript on. Good skin care begins with sun safety. Whether it is ...

Skin diseases: prevalence and predictors of itch and disease severity.

OpenAIRE

Verhoeven, E.W.M.

2009-01-01

Chronic skin diseases are known to be common among the general population. Nevertheless, little research attention has been paid to patients with skin diseases in the general population, and consequently, little is known about the impact of skin diseases on daily life within this population. General definitions of health encompass different dimensions of disease outcome divided in disease severity, accompanying physical symptoms, and psychosocial well-being. These dimensions of disease outcom...

Plants used to treat skin diseases

Science.gov (United States)

Tabassum, Nahida; Hamdani, Mariya

2014-01-01

Skin diseases are numerous and a frequently occurring health problem affecting all ages from the neonates to the elderly and cause harm in number of ways. Maintaining healthy skin is important for a healthy body. Many people may develop skin diseases that affect the skin, including cancer, herpes and cellulitis. Some wild plants and their parts are frequently used to treat these diseases. The use of plants is as old as the mankind. Natural treatment is cheap and claimed to be safe. It is also suitable raw material for production of new synthetic agents. A review of some plants for the treatment of skin diseases is provided that summarizes the recent technical advancements that have taken place in this area during the past 17 years. PMID:24600196

Skin diseases: prevalence and predictors of itch and disease severity.

NARCIS (Netherlands)

Verhoeven, E.W.M.

2009-01-01

Chronic skin diseases are known to be common among the general population. Nevertheless, little research attention has been paid to patients with skin diseases in the general population, and consequently, little is known about the impact of skin diseases on daily life within this population. General

Accurate quantification of sphingosine-1-phosphate in normal and Fabry disease plasma, cells and tissues by LC-MS/MS with (13)C-encoded natural S1P as internal standard.

Science.gov (United States)

Mirzaian, Mina; Wisse, Patrick; Ferraz, Maria J; Marques, André R A; Gabriel, Tanit L; van Roomen, Cindy P A A; Ottenhoff, Roelof; van Eijk, Marco; Codée, Jeroen D C; van der Marel, Gijsbert A; Overkleeft, Herman S; Aerts, Johannes M

2016-08-01

We developed a mass spectrometric procedure to quantify sphingosine-1-phosphate (S1P) in biological materials. The use of newly synthesized (13)C5 C18-S1P and commercial C17-S1P as internal standards rendered very similar results with respect to linearity, limit of detection and limit of quantitation. Caution is warranted with determination of plasma S1P levels. Earlier it was reported that S1P is elevated in plasma of Fabry disease patients. We investigated this with the improved quantification. No clear conclusion could be drawn for patient plasma samples given the lack of uniformity of blood collection and plasma preparation. To still obtain insight, plasma and tissues were identically collected from α-galactosidase A deficient Fabry mice and matched control animals. No significant difference was observed in plasma S1P levels. A significant 2.3 fold increase was observed in kidney of Fabry mice, but not in liver and heart. Comparative analysis of S1P in cultured fibroblasts from normal subjects and classically affected Fabry disease males revealed no significant difference. In conclusion, accurate quantification of S1P in biological materials is feasible by mass spectrometry using the internal standards (13)C5 C18-S1P or C17-S1P. Significant local increases of S1P in the kidney might occur in Fabry disease as suggested by the mouse model. Copyright © 2016 Elsevier B.V. All rights reserved.

Multicomponent nanoparticles as nonviral vectors for the treatment of Fabry disease by gene therapy

Directory of Open Access Journals (Sweden)

Ruiz de Garibay AP

2012-10-01

Full Text Available Aritz Pérez Ruiz de Garibay, Diego Delgado, Ana del Pozo-Rodríguez, María Ángeles Solinís, Alicia Rodríguez GascónPharmacokinetics, Nanotechnology and Gene Therapy Group, Pharmacy Faculty, University of the Basque Country UPV/EHU, Vitoria-Gasteiz, SpainPurpose: Gene-mediated enzyme replacement is a reasonable and highly promising approach for the treatment of Fabry disease (FD. The objective of the present study was to demonstrate the potential applications of solid lipid nanoparticle (SLN-based nonviral vectors for the treatment of FD.Methods: SLNs containing the pR-M10-αGal A plasmid that encodes the α-Galactosidase A (α-Gal A enzyme were prepared and their in vitro transfection efficacy was studied in Hep G2 cells. We also studied the cellular uptake of the vectors and the intracellular disposition of the plasmid.Results: The enzymatic activity of the cells treated with the vectors increased significantly relative to the untreated cells, regardless of the formulation assayed. When the SLNs were prepared with protamine or dextran and protamine, the activity of the α-Gal A enzyme by the transfected Hep G2 cells increased up to 12-fold compared to that of untreated cells.Conclusion: With this work we have revealed in Hep G2 cells the ability of a multicomponent system based on SLNs to act as efficient nonviral vectors to potentially correct low α-Gal A activity levels in FD with gene therapy.Keywords: solid lipid nanoparticles, Fabry disease, nonviral vectors, gene therapy

[Skin cancer as occupational disease].

Science.gov (United States)

Bauer, A

2016-11-01

The incidence of epithelial skin neoplasms, such as squamous cell carcinoma and basal cell carcinoma is significantly increasing worldwide. Leisure time solar UV exposure is causative in the overwhelming majority of cases in the general population; however, occupational exposure is responsible for a certain percentage of cases. Employees with a relevant exposure to polycyclic aromatic hydrocarbons in soot, raw paraffin, coal tar, anthracene, pitch or similar substances, to sunlight in outdoor occupations as well as to arsenic and ionizing radiation have a significantly increased risk to develop occupational skin cancer compared to the general population. In the official occupational disease list in the appendix of the German by-law on occupational diseases, the following occupational diseases concerning skin cancer are listed: BK 5102 "skin cancer and carcinoma in situ caused by soot, raw paraffin, coal tar, anthracene, pitch or similar substances" (e.g. various solid paraffins, asphalt and mazut as well as mineral oils, grease, cylinder and drilling oils), BK 5103 "squamous cell carcinoma or multiple actinic keratosis caused by natural UV radiation", BK 1108 "diseases caused by arsenic and its compounds" and BK 2402 "diseases caused by ionizing radiation". For further occupational exposure to carcinogenic substances and potential occupationally acquired skin tumors, no official lists are currently available. These cancers might be considered under a special opt out paragraph in the German Social Law (§ 9 para 2 SGB VII). Tumors in scars after occupational skin trauma or occupational burns are compensated as consequences of work accidents. The current official list of occupational skin cancers and new developments for expert opinions are described in this article.

Bodies in skin: a philosophical and theological approach to genetic skin diseases.

Science.gov (United States)

Walser, Angelika

2010-03-01

This contribution evolved from my work in a European network and is dedicated to the rare genetic skin diseases. To gain a deeper knowledge about the question, what it means to suffer from a genetic skin disease, I have discussed the concepts of skin in philosophical and theological anthropology. Presuming that ancient interpretations of skin diseases (moral and cultical impurity) are still relevant today, feminist Christian theology shows the ways of deconstructing stigmatizing paradigma by using the body as a hermeneutic category. Skin becomes the "open borderline" of the human being, pointing out both the social vulnerability and the transcendent capacity of the human person.

Focal Reduction in Cardiac 123I-Metaiodobenzylguanidine Uptake in Patients With Anderson-Fabry Disease.

Science.gov (United States)

Yamamoto, Saori; Suzuki, Hideaki; Sugimura, Koichiro; Tatebe, Shunsuke; Aoki, Tatsuo; Miura, Masanobu; Yaoita, Nobuhiro; Sato, Haruka; Kozu, Katuya; Ota, Hideki; Takanami, Kentaro; Takase, Kei; Shimokawa, Hiroaki

2016-11-25

It remains to be elucidated whether cardiac sympathetic nervous activity is impaired in patients with Anderson-Fabry disease (AFD).Methods and Results:We performed 123 I-meta-iodobenzylguanidine (MIBG) scintigraphy and gadolinium-enhanced cardiovascular magnetic resonance (CMR) in 5 AFD patients. MIBG uptake in the inferolateral wall, where wall thinning and delayed enhancement were noted on CMR, was significantly lower compared with the anteroseptal wall. The localized reduction in MIBG uptake was also noted in 2 patients with no obvious abnormal findings on CMR. Cardiac sympathetic nervous activity is impaired in AFD before development of structural myocardial abnormalities. (Circ J 2016; 80: 2550-2551).

Proposed Stages of Myocardial Phenotype Development in Fabry Disease.

Science.gov (United States)

Nordin, Sabrina; Kozor, Rebecca; Medina-Menacho, Katia; Abdel-Gadir, Amna; Baig, Shanat; Sado, Daniel M; Lobascio, Ilaria; Murphy, Elaine; Lachmann, Robin H; Mehta, Atul; Edwards, Nicola C; Ramaswami, Uma; Steeds, Richard P; Hughes, Derralynn; Moon, James C

2018-05-11

The authors sought to explore the Fabry myocardium in relation to storage, age, sex, structure, function, electrocardiogram changes, blood biomarkers, and inflammation/fibrosis. Fabry disease (FD) is a rare, x-linked lysosomal storage disorder. Mortality is mainly cardiovascular with men exhibiting cardiac symptoms earlier than women. By cardiovascular magnetic resonance, native T1 is low in FD because of sphingolipid accumulation. A prospective, observational study of 182 FD (167 adults, 15 children; mean age 42 ± 17 years, 37% male) who underwent cardiovascular magnetic resonance including native T1, late gadolinium enhancement (LGE), and extracellular volume fraction, 12-lead electrocardiogram, and blood biomarkers (troponin and N-terminal pro-brain natriuretic peptide). In children, T1 was never below the normal range, but was lower with age (9 ms/year, r = -0.78 children; r = -0.41 whole cohort; both p < 0.001). Over the whole cohort, the T1 reduction with age was greater and more marked in men (men: -1.9 ms/year, r = -0.51, p < 0.001; women: -1.4 ms/year, r = -0.47 women, p < 0.001). Left ventricular hypertrophy (LVH), LGE, and electrocardiogram abnormalities occur earlier in men. Once LVH occurs, T1 demonstrates major sex dimorphism: with increasing LVH in women, T1 and LVH become uncorrelated (r = -0.239, p = 0.196) but in men, the correlation reverses and T1 increases (toward normal) with LVH (r = 0.631, p < 0.001), a U-shaped relationship of T1 to indexed left ventricular mass in men. These data suggest that myocyte storage starts in childhood and accumulates faster in men before triggering 2 processes: a sex-independent scar/inflammation regional response (LGE) and, in men, apparent myocyte hypertrophy diluting the T1 lowering of sphingolipid. Copyright © 2018 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

Neuro-otological and peripheral nerve involvement in Fabry disease

Directory of Open Access Journals (Sweden)

Sergio Carmona

2017-07-01

Full Text Available Fabry disease (FD is an X-linked lysosomal storage disease, with multisystemic glycosphingolipids deposits. Neuro-otological involvement leading to hearing loss and vestibular dysfunctions has been described, but there is limited information about the frequency, site of lesion, or the relationship with peripheral neuropathy. The aim was to evaluate the presence of auditory and vestibular symptoms, and assess neurophysiological involvement of the VIII cranial nerve, correlating these findings with clinical and neurophysiological features of peripheral neuropathy. We studied 36 patients with FD with a complete neurological and neuro-otological evaluation including nerve conduction studies, quantitative sensory testing (to evaluate small fiber by warm and cold threshold detection and cold and heat pain, vestibular evoked myogenic potentials, videonistagmography, audiometry and brainstem auditory evoked potentials. Neuro-otologic symptoms included hearing loss (22.2%, vertigo (27.8% or both (25%. An involvement of either cochlear or vestibular function was identified in most patients (75%. In 70% of our patients the involvement of both cochlear and vestibular function could not be explained by a neural or vascular mechanism. Small fiber neuropathy was identified in 77.7%. There were no significant associations between neurootological and QST abnormalities. Neuro-otologic involvement is frequent and most likely under-recognized in patients with FD. It lacks a specific neural or vascular pattern, suggesting multi-systemic, end organ damage. Small fiber neuropathy is an earlier manifestation of FD, but there is no correlation between the development of neuropathy and neuro-otological abnormalities.

A Novel Rapid MALDI-TOF-MS-Based Method for Measuring Urinary Globotriaosylceramide in Fabry Patients

Science.gov (United States)

Alharbi, Fahad J.; Geberhiwot, Tarekegn; Hughes, Derralynn A.; Ward, Douglas G.

2016-04-01

Fabry disease is an X-linked lysosomal storage disorder caused by deficiency of α-galactosidase A, resulting in the accumulation of glycosphingolipids in various organs. Globotriaosylceramide (Gb3) and its isoforms and analogues have been identified and quantified as biomarkers of disease severity and treatment efficacy. The current study aimed to establish rapid methods for urinary Gb3 extraction and quantitation. Urine samples from 15 Fabry patients and 21 healthy control subjects were processed to extract Gb3 by mixing equal volumes of urine, methanol containing an internal standard, and chloroform followed by sonication and centrifugation. Thereafter, the lower phase was analyzed by MALDI-TOF MS and the relative peak areas of the internal standard and four major species of Gb3 determined. The results showed high reproducibility with intra- and inter-assay coefficients variation of 9.9% and 13.7%, respectively. The limit of detection was 0.15 ng/μL and the limit of quantitation was 0.30 ng/μL. Total urinary Gb3 levels in both genders of classic Fabry patients were significantly higher than in healthy controls (p < 0.0001). Gb3 levels in Fabry males were higher than in Fabry females (p = 0.08). We have established a novel assay for urinary total Gb3 that takes less than 15 min from start to finish.

Cardiac Phenotype of Prehypertrophic Fabry Disease.

Science.gov (United States)

Nordin, Sabrina; Kozor, Rebecca; Baig, Shanat; Abdel-Gadir, Amna; Medina-Menacho, Katia; Rosmini, Stefania; Captur, Gabriella; Tchan, Michel; Geberhiwot, Tarekegn; Murphy, Elaine; Lachmann, Robin; Ramaswami, Uma; Edwards, Nicola C; Hughes, Derralynn; Steeds, Richard P; Moon, James C

2018-06-01

Fabry disease (FD) is a rare and treatable X-linked lysosomal storage disorder. Cardiac involvement determines outcomes; therefore, detecting early changes is important. Native T1 by cardiovascular magnetic resonance is low, reflecting sphingolipid storage. Early phenotype development is familiar in hypertrophic cardiomyopathy but unexplored in FD. We explored the prehypertrophic cardiac phenotype of FD and the role of storage. A prospective, international multicenter observational study of 100 left ventricular hypertrophy-negative FD patients (mean age: 39±15 years; 19% male) and 35 age- and sex-matched healthy volunteers (mean age: 40±14 years; 25% male) who underwent cardiovascular magnetic resonance, including native T1 and late gadolinium enhancement, and 12-lead ECG. In FD, 41% had a low native T1 using a single septal region of interest, but this increased to 59% using a second slice because early native T1 lowering was patchy. ECG abnormalities were present in 41% and twice as common with low native T1 (53% versus 24%; P =0.005). When native T1 was low, left ventricular maximum wall thickness, indexed mass, and ejection fraction were higher (maximum wall thickness 9±1.5 versus 8±1.4 mm, P gadolinium enhancement was more likely when native T1 was low (27% versus 6%; P =0.01). FD had higher maximal apical fractal dimensions compared with healthy volunteers (1.27±0.06 versus 1.24±0.04; P <0.005) and longer anterior mitral valve leaflets (23±2 mm versus 21±3 mm; P <0.005). There is a detectable prehypertrophic phenotype in FD consisting of storage (low native T1), structural, functional, and ECG changes. © 2018 The Authors.

Anderson-Fabry, the histrionic disease: from genetics to clinical management

Directory of Open Access Journals (Sweden)

Franco Cecchi

2013-02-01

Full Text Available Anderson-Fabry disease (AFD is an Xlinked lysosomal storage disorder of glycosphingolipid catabolism, due to deficiency or absence of a galactosidase A (α-gal A enzyme. The disease may affect males and females, the latter with an average 10 years delay. Metabolites storage (mostly Gb3 and lyso-Gb3 leads to progressive cellular and multiorgan dysfunction, with either early and late onset variable clinical manifestations that usually reduce quality of life and life expectancy. Heart and kidney failure, stroke and sudden death are the most devastating complications. AFD is always been considered a very rare disease, although new epidemiologic data, based on newborn screening, showed that AFD prevalence is probably underestimated and much higher than previously reported, especially for late-onset atypical phenotypes. Currently, the diagnosis may be easier and simpler by evaluating α-gal A enzyme activity and genetic analysis for GLA gene mutations on dried blood spot. While a marked α-gal A deficiency leads to diagnosis of AFD in hemizygous males, the molecular analysis is mandatory in heterozygous females. However, referral to a center with an expert multidisciplinary team is highly advisable, in order to ensure careful management and treatment of patients, based also on accurate molecular and biochemical data interpretation. While long-term efficacy of enzyme replacement therapy (ERT in advanced stage is still debated, increasing evidence shows greater efficacy of early treatment initiation. Concomitant, organ-specific therapy is also needed. New treatment approaches, such as chemical chaperone therapy, alone or in combination with ERT, are currently under investigation. The present review illustrates the major features of the disease, focusing also on biochemical and genetic aspects.

Continuous cardiac troponin I release in Fabry disease.

Science.gov (United States)

Feustel, Andreas; Hahn, Andreas; Schneider, Christian; Sieweke, Nicole; Franzen, Wolfgang; Gündüz, Dursun; Rolfs, Arndt; Tanislav, Christian

2014-01-01

Fabry disease (FD) is a rare lysosomal storage disorder also affecting the heart. The aims of this study were to determine the frequency of cardiac troponin I (cTNI) elevation, a sensitive parameter reflecting myocardial damage, in a smaller cohort of FD-patients, and to analyze whether persistent cTNI can be a suitable biomarker to assess cardiac dysfunction in FD. cTNI values were determined at least twice per year in 14 FD-patients (6 males and 8 females) regularly followed-up in our centre. The data were related to other parameters of heart function including cardiac magnetic resonance imaging (cMRI). Three patients (21%) without specific vascular risk factors other than FD had persistent cTNI-elevations (range 0.05-0.71 ng/ml, normal: gadolinium enhancement (LGE) in all three individuals with cTNI values ≥0.01, while none of the 11 patients with cTNI <0.01 showed a pathological enhancement (p<0.01). Two subjects with increased cTNI-values underwent coronary angiography, excluding relevant stenoses. A myocardial biopsy performed in one during this procedure demonstrated substantial accumulation of globotriaosylceramide (Gb3) in cardiomyocytes. Continuous cTNI elevation seems to occur in a substantial proportion of patients with FD. The high accordance with LGE, reflecting cardiac dysfunction, suggests that cTNI-elevation can be a useful laboratory parameter for assessing myocardial damage in FD.

Uncertain Diagnosis of Fabry Disease in Patients with Neuropathic Pain, Angiokeratoma or Cornea Verticillata: Consensus on the Approach to Diagnosis and Follow-Up

NARCIS (Netherlands)

van der Tol, L.; Cassiman, David; Houge, Gunnar; Janssen, Mirian C.; Lachmann, Robin H.; Linthorst, Gabor E.; Ramaswami, Uma; Sommer, Claudia; Tøndel, Camilla; West, Michael L.; Weidemann, Frank; Wijburg, Frits A.; Svarstad, Einar; Hollak, Carla E. M.; Biegstraaten, Marieke

2014-01-01

Introduction: Individuals with neuropathic pain, angiokeratoma (AK) and/or cornea verticillata (CV) may be tested for Fabry disease (FD). Classical FD is characterised by a specific pattern of these features. When a patient presents with a non-specific pattern, the pathogenicity of a variant in the

Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-up

NARCIS (Netherlands)

Tol, L. van der; Cassiman, D.; Houge, G.; Janssen, M.C.; Lachmann, R.H.; Linthorst, G.E.; Ramaswami, U.; Sommer, C.; Tondel, C.; West, M.L.; Weidemann, F.; Wijburg, F.A.; Svarstad, E.; Hollak, C.E.M.; Biegstraaten, M.

2014-01-01

INTRODUCTION: Individuals with neuropathic pain, angiokeratoma (AK) and/or cornea verticillata (CV) may be tested for Fabry disease (FD). Classical FD is characterised by a specific pattern of these features. When a patient presents with a non-specific pattern, the pathogenicity of a variant in the

Neurotrophins in healthy and diseased skin.

Science.gov (United States)

Raap, U; Kapp, A

2010-04-01

Understanding the complex mechanism of allergic inflammatory skin diseases has been a main challenge of clinical and experimental research for years. It is well known that the inflammatory response is also controlled by tissue resident cells including neurons and structural cells. Thus, allergic inflammation triggers neuronal dysfunction and structural changes in diseased skin. Prime candidates for the interaction between immune, structural, and neuronal cells are presented by neurotrophins. Neurotrophins have initially been described for their neurotrophic capacity. However, recent evidence emerges that neurotrophins display bidirectional interaction pathways in activating structural cells, immune cells in addition to neurons. Neurotrophins including brain-derived neurotrophic factor (BDNF) and nerve growth factor (NGF) are upregulated in allergic inflammatory skin diseases. Further, structural cells, neurons and tissue resident cells have not only been shown to be a target but also a source of neurotrophin. In this regard, eosinophil granulocytes which are key target effector cells in chronic inflammatory skin have been identified as a target of neurotrophins but are also capable of neurotrophin production. Thus, neuroimmune interaction mechanisms in allergic inflammatory skin display a novel pathophysiological aspect in which neurotrophins serve as prime candidates for bidirectional interaction mechanisms. In this review, we provide an actual overview of neurotrophins in healthy and diseased skin with special emphasis on atopic dermatitis and therapeutic implications.

The use of high resolution melting analysis to detect Fabry mutations in heterozygous females via dry bloodspots.

Science.gov (United States)

Tai, Chang-Long; Liu, Mei-Ying; Yu, Hsiao-Chi; Chiang, Chiang-Chuan; Chiang, Hung; Suen, Jeng-Hung; Kao, Shu-Min; Huang, Yu-Hsiu; Wu, Tina Jui-Ting; Yang, Chia-Feng; Tsai, Fang-Chih; Lin, Ching-Yuang; Chang, Jan-Gowth; Chen, Hong-Duo; Niu, Dau-Ming

2012-02-18

As an X-linked genetic disorder, Fabry disease was first thought to affect males only, and females were generally considered to be asymptomatic carriers. However, recent research suggests that female carriers of Fabry disease may still develop vital organ damage causing severe morbidity and mortality. In the previous newborn screening, from 299,007 newborns, we identified a total of 20 different Fabry mutations and 121 newborns with Fabry mutations. However, we found that most female carriers are not detected by enzyme assays. A streamlined method for high resolution melting (HRM) analysis was designed to screen for GLA gene mutations using a same PCR and melting program. Primer sets were designed to cover the 7 exons and the Chinese common intronic mutation, IVS4+919G>A of GLA gene. The HRM analysis was successful in identifying heterozygous and hemizygous patients with the 20 surveyed mutations. We were also successful in using this method to test dry blood spots of newborns afflicted with Fabry mutations without having to determine DNA concentration before PCR amplification. The results of this study show that HRM could be a reliable and sensitive method for use in the rapid screening of females for GLA mutations. Copyright © 2011 Elsevier B.V. All rights reserved.

Diagnostic dilemma: a young woman with Fabry disease symptoms, no family history, and a "sequencing cryptic" α-galactosidase a large deletion

DEFF Research Database (Denmark)

Feldt-Rasmussen, Ulla; Dobrovolny, Robert; Nazarenko, Irina

2011-01-01

Fabry disease, an X-linked lysosomal storage disorder, results from the deficient activity of a-galactosidase A (a-Gal A). In affected males, the clinical diagnosis is confirmed by the markedly decreased a-Gal A activity. However, in female heterozygotes, the a-Gal A activity can range from low t...... on enzyme replacement therapy. Thus, gene dosage analyses can detect large deletions (>50bp) in suspect heterozygotes for X-linked and autosomal dominant diseases that are "sequencing cryptic," resolving molecular diagnostic dilemmas....

An Archetype Semi-Ring Fabry-Perot (SRFP) Resonator

Science.gov (United States)

Taghavi-Larigani, Shervin; VanZyl, Jakob

2009-01-01

We introduce and demonstrate the generation of a novel resonator, termed Semi-Ring Fabry-Perot (SRFP), that exhibits unique features, such as, its use of one plane mirror, allowing the SRFP to be easily fabricated as a symmetrical device. In addition to its unique features, it exhibits advantages of ring and Fabry-Perot resonators: 1) compared to a ring resonator that only allows a transmitted intensity, the Semi-Ring Fabry-Perot (SRFP) supports standing waves, allowing both a reflected and transmitted intensity; 2) the reflected light spectrum of the SRFP resonator is much narrower than similar Fabry-Perot, implying higher finesse.

Psychiatric and Psychological Impact of Chronic Skin Disease.

Science.gov (United States)

Jafferany, Mohammad; Pastolero, Paul

2018-04-26

Chronic skin disease has a devastating effect on a person's physical and psychological well-being. Skin disease significantly impacts all aspects of a patient's life including school, relationships, career choices, social and leisure activities, and sexual life. The physical, psychological, and social consequences affect not only the patients, but also caregivers and family members as well. Common psychological problems associated with skin disease include, but are not limited to, feelings of stress, anxiety, anger, depression, shame, social isolation, low self-esteem, and embarrassment. Besides psychopharmacology, multiple psychotherapeutic techniques have proved to be helpful in addressing the psychological sequelae of skin disease. © Copyright 2018 Physicians Postgraduate Press, Inc.

[The notion of occupational skin disease. Medical and legal aspects].

Science.gov (United States)

Elsner, P; Schliemann, S

2015-03-01

The different definitions of skin disease in medicine and in law are frequently confusing for dermatologists. While a skin disease may be defined medically referring to the definition of health by the WHO as a pathological condition of the skin leading to a disruption of the physical, mental and social well-being of the individual, legal definitions vary depending on the field of insurance law that is referred to. In the law of private health insurance, a skin disease is defined as an anomalous condition of the skin requiring medical treatment that exists independently of the subjective judgement of the insured person and needs to be objectively confirmed by a medical evaluation. In contrast, in the law of the social health insurance, the Federal Court of Social Justice defines disease as irregular physical or mental condition, deviating from the perception of a healthy human being that requires medical treatment or leads to inability to work. Substantial bodily disfigurement may be regarded as an irregular physical condition. In the law of the statutory accident insurance, occupational skin diseases are defined under clause 5101 of the occupational disease regulation as serious or repeatedly relapsing skin diseases that have forced a person to refrain from any work activities causal for the development, the aggravation or the recurrence of the disease. The Federal Court of Social Justice interprets the term "skin disease" from the protective purpose of the law, i.e. the protection against the economic and health consequences of the exposure to harmful agents and a thereby forced change of profession. This broad interpretation of the term "skin disease" leads to the recognition of diseases of the conjunctiva of the eye or diseases of the blood vessels of the skin due to cold damage as skin diseases according to clause 5101. For the correct treatment and possibly notification of occupational skin diseases in collaboration with various insurance carriers

Continuous cardiac troponin I release in Fabry disease.

Directory of Open Access Journals (Sweden)

Andreas Feustel

Full Text Available Fabry disease (FD is a rare lysosomal storage disorder also affecting the heart. The aims of this study were to determine the frequency of cardiac troponin I (cTNI elevation, a sensitive parameter reflecting myocardial damage, in a smaller cohort of FD-patients, and to analyze whether persistent cTNI can be a suitable biomarker to assess cardiac dysfunction in FD.cTNI values were determined at least twice per year in 14 FD-patients (6 males and 8 females regularly followed-up in our centre. The data were related to other parameters of heart function including cardiac magnetic resonance imaging (cMRI.Three patients (21% without specific vascular risk factors other than FD had persistent cTNI-elevations (range 0.05-0.71 ng/ml, normal: <0.01. cMRI disclosed late gadolinium enhancement (LGE in all three individuals with cTNI values ≥0.01, while none of the 11 patients with cTNI <0.01 showed a pathological enhancement (p<0.01. Two subjects with increased cTNI-values underwent coronary angiography, excluding relevant stenoses. A myocardial biopsy performed in one during this procedure demonstrated substantial accumulation of globotriaosylceramide (Gb3 in cardiomyocytes.Continuous cTNI elevation seems to occur in a substantial proportion of patients with FD. The high accordance with LGE, reflecting cardiac dysfunction, suggests that cTNI-elevation can be a useful laboratory parameter for assessing myocardial damage in FD.

Atypical Distribution of Late Gadolinium Enhancement of the Left Ventricle on Cardiac Magnetic Resonance in Classical Anderson-Fabry Disease

OpenAIRE

Kasuya, Shusuke; Suzuki, Masayo; Inaoka, Tsutomu; Odashima, Masayuki; Nakatsuka, Tomoya; Ishikawa, Rumiko; Tokuyama, Wataru; Terada, Hitoshi

2016-01-01

Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by a deficiency of alpha-galactosidase A. Approximately 50% of patients with AFD may have cardiac involvement. Gadolinium-enhanced cardiac magnetic resonance (CMR) is useful for the diagnosis of cardiac involvement of AFD by recognizing typical late gadolinium enhancement (LGE) patterns. We report a 48-year-old man with cardiac involvement in classical AFD, showing atypical distribution of the LGE at the mid-lateral...

MYTHS AND STIGMA ASSOCIATED WITH SKIN DISEASES:A REVIEW ARTICLE

OpenAIRE

Uzma Eram*

2017-01-01

Skin disease is often obvious and very visible to others. Those who have skin diseases have not only to cope with the effects of their disease but also the reaction of others to their condition. There is stigma attached to a wide range of skin diseases, affecting many millions of people, just as there is for mental illness and sexually-transmitted infections.The skin diseases are often incurable and treatments aim to reduce symptoms. Common examples include eczema, psoriasis, acne, rosacea an...

Positron Emission Tomography and Magnetic Resonance Imaging of the Brain in Fabry Disease

DEFF Research Database (Denmark)

Korsholm, Kirsten; Feldt-Rasmussen, Ulla; Granqvist, Henrik

2015-01-01

tomography (PET) and magnetic resonance imaging (MRI). PATIENTS: Forty patients with Fabry disease (14 males, 26 females, age at inclusion: 10-66 years, median: 39 years) underwent a brain F-18-FDG-PET-scan at inclusion, and 31 patients were followed with FDG-PET biannually for up to seven years. All...... patients (except one) had a brain MRI-scan at inclusion, and 34 patients were followed with MRI biannually for up to nine years. IMAGE ANALYSIS: The FDG-PET-images were inspected visually and analysed using a quantitative 3-dimensional stereotactic surface projection analysis (Neurostat). MRI images were...... also inspected visually and severity of white matter lesions (WMLs) was graded using a visual rating scale. RESULTS: In 28 patients brain-FDG-PET was normal; in 23 of these 28 patients brain MRI was normal--of the remaining five patients in this group, four patients had WMLs and one patient never had...

Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease.

Science.gov (United States)

Oji, Vinzenz; Eckl, Katja-Martina; Aufenvenne, Karin; Nätebus, Marc; Tarinski, Tatjana; Ackermann, Katharina; Seller, Natalia; Metze, Dieter; Nürnberg, Gudrun; Fölster-Holst, Regina; Schäfer-Korting, Monika; Hausser, Ingrid; Traupe, Heiko; Hennies, Hans Christian

2010-08-13

Generalized peeling skin disease is an autosomal-recessive ichthyosiform erythroderma characterized by lifelong patchy peeling of the skin. After genome-wide linkage analysis, we have identified a homozygous nonsense mutation in CDSN in a large consanguineous family with generalized peeling skin, pruritus, and food allergies, which leads to a complete loss of corneodesmosin. In contrast to hypotrichosis simplex, which can be associated with specific dominant CDSN mutations, peeling skin disease is characterized by a complete loss of CDSN expression. The skin phenotype is consistent with a recent murine Cdsn knockout model. Using three-dimensional human skin models, we demonstrate that lack of corneodesmosin causes an epidermal barrier defect supposed to account for the predisposition to atopic diseases, and we confirm the role of corneodesmosin as a decisive epidermal adhesion molecule. Therefore, peeling skin disease will represent a new model disorder for atopic diseases, similarly to Netherton syndrome and ichthyosis vulgaris in the recent past.

On-chip optical filter comprising Fabri-Perot resonator structure and spectrometer

Energy Technology Data Exchange (ETDEWEB)

Han, Seunghoon; Horie, Yu; Faraon, Andrei; Arbabi, Amir

2018-04-10

An on-chip optical filter having Fabri-Perot resonators and a spectrometer may include a first sub-wavelength grating (SWG) reflecting layer and a second SWG reflecting layer facing each other. A plurality of Fabri-Perot resonators are formed by the first SWG reflecting layer and the second SWG reflecting layer facing each other. Each of the Fabri-Perot resonators may transmit light corresponding to a resonance wavelength of the Fabri-Perot resonator. The resonance wavelengths of the Fabri-Perot resonators may be determined according to duty cycles of grating patterns.

Mortality from nonneoplastic skin disease in the United States.

Science.gov (United States)

Lott, Jason P; Gross, Cary P

2014-01-01

The mortality burden from nonneoplastic skin disease in the United States is unknown. We sought to estimate mortality from nonneoplastic skin disease as underlying and contributing causes of death. Population-based death certificate data detailing mortality from nonneoplastic skin disease for years 1999 to 2009 were used to calculate absolute numbers of death and age-adjusted mortality by year, patient demographics, and 10 most commonly reported diagnoses. Nonneoplastic skin diseases were reported as underlying and contributing causes of mortality for approximately 3948 and 19,542 patients per year, respectively. Age-adjusted underlying cause mortality (per 100,000 persons) were significantly greater (P deaths occurred in patients ages 65 years and older (34,248 total deaths). Common underlying causes of death included chronic ulcers (1789 deaths/y) and cellulitis (1348 deaths/y). Errors in death certificate data and inability to adjust for patient-level confounders may limit the accuracy and generalizability of our results. Mortality from nonneoplastic skin disease is uncommon yet potentially preventable. The elderly bear the greatest burden of mortality from nonneoplastic skin disease. Chronic ulcers and cellulitis constitute frequent causes of death. Copyright © 2013 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

Light and skin disease

International Nuclear Information System (INIS)

Bauer, R.

1991-01-01

Because of the depletion of ozone in the stratosphere due to chlorofluorocarbons, the screening effect of this ozone layer on ultraviolet radiation (especially the so-called UV-B component) is reduced. This paper describes the impact of increased UV radiation on the human skin. Because of the 'ozone-hole', a distinct increase in the rate of skin cancer is to be expected which will affect all living beings but most of all man - an indirect consequence of the climate development. What makes the increased intensity of UV-B radiation so harmful is the fact that light-induced skin damage accumulates for the period of the life-time of the individual and cannot be reversed. A further thinning of stratospheric ozone would let through, in addition, the more short-waved ('harder') UV-C radiation. The latter, though clinically not significant currently, would then account for a further increase in the rate of malignant skin disease world-wide. (orig.) [de

Complement Activation in Inflammatory Skin Diseases

Directory of Open Access Journals (Sweden)

Jenny Giang

2018-04-01

Full Text Available The complement system is a fundamental part of the innate immune system, playing a crucial role in host defense against various pathogens, such as bacteria, viruses, and fungi. Activation of complement results in production of several molecules mediating chemotaxis, opsonization, and mast cell degranulation, which can contribute to the elimination of pathogenic organisms and inflammation. Furthermore, the complement system also has regulating properties in inflammatory and immune responses. Complement activity in diseases is rather complex and may involve both aberrant expression of complement and genetic deficiencies of complement components or regulators. The skin represents an active immune organ with complex interactions between cellular components and various mediators. Complement involvement has been associated with several skin diseases, such as psoriasis, lupus erythematosus, cutaneous vasculitis, urticaria, and bullous dermatoses. Several triggers including auto-antibodies and micro-organisms can activate complement, while on the other hand complement deficiencies can contribute to impaired immune complex clearance, leading to disease. This review provides an overview of the role of complement in inflammatory skin diseases and discusses complement factors as potential new targets for therapeutic intervention.

Automation Diagnosis of Skin Disease in Humans using Dempster-Shafer Method

Science.gov (United States)

Khairina, Dyna Marisa; Hatta, Heliza Rahmania; Rustam; Maharani, Septya

2018-02-01

Skin disease is an infectious disease that is common in people of all ages. Disorders of the skin often occur because there are factors, among others, are climate, environment, shelter, unhealthy living habits, allergies and others. Skin diseases in Indonesia are mostly caused by bacterial, fungal, parasitic, and allergies. The objective of the research is to diagnose skin diseases in humans by using the method of making decision tree then performing the search by forward chaining and calculating the probability value of Dempster-Shafer method. The results of research in the form of an automated system that can resemble an expert in diagnosing skin disease accurately and can help in overcoming the problem of skin diseases.

Skin Diseases: Questions for Your Health Care Provider

Science.gov (United States)

Skip Navigation Bar Home Current Issue Past Issues Skin Diseases Questions for Your Health Care Provider Past ... dermatitis worse? What are the most common irritants? Skin cancer What type of skin cancer do I ...

The prevalent deep intronic c. 639+919 G>A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer

DEFF Research Database (Denmark)

Palhais, Bruno; Dembic, Maja; Sabaratnam, Rugivan

2016-01-01

Fabry disease is an X-linked recessive inborn disorder of the glycosphingolipid metabolism, caused by total or partial deficiency of the lysosomal α-galactosidase A enzyme due to mutations in the GLA gene. The prevalent c.639+919 G>A mutation in GLA leads to pathogenic insertion of a 57bp pseudoe...... oligonucleotide (SSO) mediated blocking of the pseudoexon 3'ss and 5'ss effectively restores normal GLA splicing. This indicates that SSO based splicing correction may be a therapeutic alternative in the treatment of Fabry disease....

[Early detection of occupational skin diseases in sewer workers].

Science.gov (United States)

Lang, V; Lauffer, F; Fincan, Y; Biedermann, T; Zink, A

2018-04-25

Skin diseases affect 30-70% of the world population, and globally, skin cancer rates are continuously increasing. In this respect, prevention programs and early detection of skin diseases are of particular importance. To screen sewer workers for skin diseases with regard to their work-related risk. Employees of the municipal utilities in Munich (Münchner Stadtentwässerung) underwent a whole-body examination of the skin, conducted by two dermatologists. In addition, all employees completed a paper-based questionnaire on risk behavior and preventive measures. We examined 81 employees (79 men, 2 women, mean age 45.7 ± 9.5 years). Skin lesions in need of treatment were found in 30.9% (n = 25): the most frequent diagnosis was mycosis pedis (16.1%). In addition, one employee was diagnosed with basal cell carcinoma and two with actinic keratoses. According to the questionnaire, 43.5% of the employees had undergone a physician-led skin cancer screening in the past, whereas sun-protection practices were rarely applied. According to our findings, employee skin cancer screening seems to be beneficial for the detection of work-related skin diseases and is associated with a high participation rate. Furthermore, the study suggests that sewer workers have a high rate of mycosis pedis, possibly a work-related effect.

Skin changes in chronic kidney disease

Directory of Open Access Journals (Sweden)

Joanna M. Przepiórka-Kosińska

2017-04-01

Full Text Available Chronic kidney disease causes skin changes which may sometimes be the first sign of kidney failure. Specific skin changes include acquired perforating dermatosis, porphyria cutanea tarda, pseudoporphyria, calcinosis and nephrogenic systemic fibrosis. The majority of patients present with cutaneous manifestations which are classified as non-specific, including xerosis, pruritus, pigmentation disturbances, nail plate abnormalities, uraemic frost and gynaecomastia. Treatment improving kidney function (dialysis therapy or kidney transplantation also leads to the resolution of skin lesions.

Co-existence of Phenylketonuria and Fabry disease on a 3 year-old boy: case report

Directory of Open Access Journals (Sweden)

Bonapace Giuseppe

2010-05-01

Full Text Available Abstract Background The co-existence of two genetically distinct metabolic disorders in the same patient has rarely been reported. Phenylketonuria (PKU is an inborn error of the metabolism resulting from a phenylalanine hydroxylase deficiency. Fabry disease (FD is an X-linked lysosomal storage disorder due to a deficiency of the enzyme alpha-galactosidase A. Case presentation We report a case of a 3 year- old boy affected by classic PKU and FD, both confirmed by molecular data. The FD was suspected at the age of 21 months on the presence of non-specific GI symptoms (severe abdominal pain and periodically appearance of not specific episodes of gastroenteritis apparently non related to PKU. Conclusion This is the first report of co-existence of FD and PKU, two different congenital inborn of metabolism and in consideration of the prevalence of each disease this chance association is a very unusual event. The co-existence of this diseases made very difficult the correct interpretation of clinical symptoms as lack of appetite, severe abdominal pain and non-specific gastroenteritis episodes. Furthermore, this case report helps to define the early clinical phenotype of FD.

Skin immune sentinels in health and disease.

Science.gov (United States)

Nestle, Frank O; Di Meglio, Paola; Qin, Jian-Zhong; Nickoloff, Brian J

2009-10-01

Human skin and its immune cells provide essential protection of the human body from injury and infection. Recent studies reinforce the importance of keratinocytes as sensors of danger through alert systems such as the inflammasome. In addition, newly identified CD103(+) dendritic cells are strategically positioned for cross-presentation of skin-tropic pathogens and accumulating data highlight a key role of tissue-resident rather than circulating T cells in skin homeostasis and pathology. This Review focuses on recent progress in dissecting the functional role of skin immune cells in skin disease.

Retrospective Study of Epidermal Parasitic Skin Diseases amongst ...

African Journals Online (AJOL)

ADOWIE PERE

ABSTRACT: A ten year retrospective study (1997-2006) was undertaken to determine the prevalence of. Epidermal Parasitic Skin Diseases (EPSD) among out-patients from the skin diseases hospital in Maiduguri, Borno state. Out of 10,000 out-patients examined during the study period, 3527(35.27%) where infected with ...

Mutational analysis of the GLA gene in Mexican families with Fabry ...

Indian Academy of Sciences (India)

PRONAF CP 32315, Ciudad Juárez, Chihuahua, México. Abstract. Fabry disease (FD) is a lysosomal storage disorder, which develops due to a deficiency in the hydrolytic enzyme, α-galactosidase A (α-Gal A). Alpha-Gal A hydrolyzes glycosphingolipid globotriaosylceramide (Gb3), and an α-Gal A deficiency leads to Gb3 ...

OCT imaging of skin cancer and other dermatological diseases

DEFF Research Database (Denmark)

Mogensen, Mette; Thrane, Lars; Jørgensen, Thomas Martini

2009-01-01

Optical coherence tomography (OCT) provides clinicians and researchers with micrometer-resolution, in vivo, cross-sectional images of human skin up to several millimeter depth. This review of OCT imaging applied within dermatology covers the application of OCT to normal skin, and reports on a lar...... number of applications in the fields of non-melanoma skin cancer, malignant melanomas, psoriasis and dermatitis, infestations, bullous skin diseases, tattoos, nails, haemangiomas, and other skin diseases. (© 2009 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim)......Optical coherence tomography (OCT) provides clinicians and researchers with micrometer-resolution, in vivo, cross-sectional images of human skin up to several millimeter depth. This review of OCT imaging applied within dermatology covers the application of OCT to normal skin, and reports on a large...

[The role of psychological factors and psychiatric disorders in skin diseases].

Science.gov (United States)

Kieć-Swierczyńska, Marta; Dudek, Bohdan; Krecisz, Beata; Swierczyńska-Machura, Dominika; Dudek, Wojciech; Garnczarek, Adrianna; Turczyn, Katarzyna

2006-01-01

In this paper, the relation between psychological factors and psychiatric disorders in patients with skin diseases is discussed. On the one hand psychological factors (stress, negative emotions) can influence the generation and aggravation of skin disorders (urticaria, atopic dermatitis, vitiligo), on the other hand psychological disorders can result in some skin diseases (psoriasis, atopic dermatitis). In the majority of cases the quality of life is poorly estimated by patients with skin problems. Psychodermatology is divided into three categories according to the relationship between skin diseases and mental disorders: 1) psychophysiologic disorders caused by skin diseases triggering different emotional states (stress), but not directly combined with mental disorders (psoriasis, eczema); 2) primary psychiatric disorders responsible for self-induced skin disorders (trichotillomania); and 3) secondary psychiatric disorders caused by disfiguring skin (ichthyosis, acne conglobata, vitiligo), which can lead to states of fear, depression or suicidal thoughts.

Skin Diseases Modeling using Combined Tissue Engineering and Microfluidic Technologies.

Science.gov (United States)

Mohammadi, Mohammad Hossein; Heidary Araghi, Behnaz; Beydaghi, Vahid; Geraili, Armin; Moradi, Farshid; Jafari, Parya; Janmaleki, Mohsen; Valente, Karolina Papera; Akbari, Mohsen; Sanati-Nezhad, Amir

2016-10-01

In recent years, both tissue engineering and microfluidics have significantly contributed in engineering of in vitro skin substitutes to test the penetration of chemicals or to replace damaged skins. Organ-on-chip platforms have been recently inspired by the integration of microfluidics and biomaterials in order to develop physiologically relevant disease models. However, the application of organ-on-chip on the development of skin disease models is still limited and needs to be further developed. The impact of tissue engineering, biomaterials and microfluidic platforms on the development of skin grafts and biomimetic in vitro skin models is reviewed. The integration of tissue engineering and microfluidics for the development of biomimetic skin-on-chip platforms is further discussed, not only to improve the performance of present skin models, but also for the development of novel skin disease platforms for drug screening processes. © 2016 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

Occupational skin diseases in Czech healthcare workers from 1997 to 2009.

Science.gov (United States)

Machovcová, A; Fenclová, Z; Pelclová, D

2013-04-01

The healthcare sector ranked in second place among economic sectors in the Czech Republic, with about 11.4 % of all occupational diseases in 2009. Skin diseases constituted about 20 % of all occupational diseases. The aim of this study was to analyze the causes and trends in allergic and irritant-induced skin diseases in the healthcare sector. The data concerning occupational skin diseases (Chapter IV of the Czech List of Occupational Diseases, non-infectious skin illnesses) in the healthcare sector were analyzed from the Czech National Registry of Occupational Diseases from 1997 until 2009. The trends in the total counts and most frequent causes were evaluated. During the past 13 years, a total of 545 skin diseases were acknowledged in healthcare workers. Allergic contact dermatitis was diagnosed in 464 (85 %), irritant contact dermatitis in 71 (13 %) and contact urticaria in 10 subjects (2 %). Ninety-five percent of the patients were females. The overall incidence in individual years varied between 1.0 and 2.9 cases per 10,000 full-time employees per year. Disinfectants were the most frequent chemical agents causing more than one third of all allergic skin diseases (38 %), followed by rubber components (32 %) and cleaning agents (10 %). A general downward trend of diagnosed cases of occupational skin diseases in heath care workers in the Czech Republic over the past 13 years was demonstrated.

Skin Diseases and the Adolescent

Science.gov (United States)

Bauer, Marjorie

1970-01-01

Discusses such concerns as acne, syphilis, drug abuse, and tatoos. Indicates need for physician not only to treat skin diseases but to help adolescents to accept themselves and find constructive directions. (CJ)

The skin microbiome: Associations between altered microbial communities and disease.

Science.gov (United States)

Weyrich, Laura S; Dixit, Shreya; Farrer, Andrew G; Cooper, Alan J; Cooper, Alan J

2015-11-01

A single square centimetre of the human skin can contain up to one billion microorganisms. These diverse communities of bacteria, fungi, mites and viruses can provide protection against disease, but can also exacerbate skin lesions, promote disease and delay wound healing. This review addresses the current knowledge surrounding the healthy skin microbiome and examines how different alterations to the skin microbial communities can contribute to disease. Current methodologies are considered, changes in microbial diversity and colonisation by specific microorganisms are discussed in the context of atopic dermatitis, psoriasis, acne vulgaris and chronic wounds. The recent impact of modern Westernised lifestyles on the human skin microbiome is also examined, as well as the potential benefits and pitfalls of novel therapeutic strategies. Further analysis of the human skin microbiome, and its interactions with the host immune system and other commensal microorganisms, will undoubtedly elucidate molecular mechanisms for disease and reveal gateways for novel therapeutic treatment strategies. © 2015 The Australasian College of Dermatologists.

Echocardiographic and clinical findings in patients with Fabry disease during long-term enzyme replacement therapy

DEFF Research Database (Denmark)

Madsen, Christoffer Valdorff; Bundgaard, Henning; Rasmussen, Åse Krogh

2017-01-01

from baseline to follow-up; 30 mm [15-53] vs. 25 mm [3-44], p vs. 1520 mm·ms [550-5740], p within the non-ERT group. During follow-up, cardiac symptoms and use of cardiovascular procedures and -medication increased...... significantly in the ERT group, whereas no differences were observed within the non-ERT group. DISCUSSION: We raise concerns regarding the efficacy and benefit of ERT on cardiac involvement in Fabry disease and stress the need for further research....... and Holter-monitoring. RESULTS: We included 66 patients; 47 patients (27 women) received ERT (ERT group) and 19 patients (15 women) did not (non-ERT group). The groups were followed for a median of 8 [0-12] years and 6 [0-13] years, respectively. Comparison between ERT and non-ERT receiving patients by left...

Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease. Evidence for a disease specific abnormality of the myocardial interstitium.

Science.gov (United States)

Moon, James C C; Sachdev, Bhavesh; Elkington, Andrew G; McKenna, William J; Mehta, Atul; Pennell, Dudley J; Leed, Philip J; Elliott, Perry M

2003-12-01

Anderson-Fabry Disease (AFD), an X-linked disorder of sphingolipid metabolism, is a cause of idiopathic left ventricular hypertrophy but the mechanism of hypertrophy is poorly understood. Gadolinium enhanced cardiovascular magnetic resonance can detect focal myocardial fibrosis. We hypothesised that hyperenhancement would be present in AFD. Eighteen males (mean 43+/-14 years) and eight female heterozygotes (mean 48+/-12 years) with AFD underwent cine and late gadolinium cardiovascular magnetic resonance. Nine male (50%) had myocardial hyperenhancement ranging from 3.4% to 20.6% (mean 7.7+/-5.7%) of total myocardium; in males, percentage hyperenhancement related to LV mass index (r=0.78, P=0.0002) but not to ejection fraction or left ventricular volumes. Lesser hyperenhancement was also found in four (50%) heterozygous females (mean 4.6%). In 12 (92%) patients with abnormal gadolinium uptake, hyperenhancement occurred in the basal infero-lateral wall where, unlike myocardial infarction, it was not sub-endocardial. In two male patients with severe LVH (left ventricular hypertrophy) and systolic impairment there was additional hyperenhancement in other myocardial segments. These observations suggests that myocardial fibrosis occurs in AFD and may contribute to the hypertrophy and the natural history of the disease.

Skin changes in chronic kidney disease

OpenAIRE

Joanna M. Przepiórka-Kosińska; Katarzyna M. Chyl-Surdacka; Joanna Bartosińska; Dorota Krasowska; Grażyna Chodorowska

2017-01-01

Chronic kidney disease causes skin changes which may sometimes be the first sign of kidney failure. Specific skin changes include acquired perforating dermatosis, porphyria cutanea tarda, pseudoporphyria, calcinosis and nephrogenic systemic fibrosis. The majority of patients present with cutaneous manifestations which are classified as non-specific, including xerosis, pruritus, pigmentation disturbances, nail plate abnormalities, uraemic frost and gynaecomastia. Treatment improving kidney fun...

SOCIODEMOGRAPHIC FACTORS AND THEIR ASSOCIATION TO PREVALENCE OF SKIN DISEASES AMONG ADOLESCENTS

Directory of Open Access Journals (Sweden)

Toraub Kawshar

2013-07-01

Full Text Available Introduction: The pattern of skin diseases in any community is influenced by genetic constitution, climate, socioeconomic status, occupation, education, hygienic standards, customs and quality of medical care. The burden of skin disease also has an impact on the Quality of Life of adolescents. This study aims to investigate the level of awareness and assess the prevalence of different types of skin diseases among adolescents in Mauritius. Material and Methods: 500 adolescents and young adults of both sexes and aged between 11-23 years were recruited. A questionnaire was used to elicit information and to assess the knowledge status of skin diseases and to determine possible risk factors. In addition, a validated questionnaire based on Quality of Life Index was used to determine the psychosocial effect of adolescents suffering from skin diseases. Data was analysed using IBM Statistics SPSS version 20 and Microsoft Excel 2007. Results: Incidence of skin diseases was 22.9% in males and 24.7% females respectively. Acne was the most common skin problems in both gender followed by fungal infection (2.9% in males and eczema (2.4% in females. Climatic conditions (e.g summer, consumption of oily and spicy foods, sports practice and familial history were correlated positively with prevalence of skin diseases. Conclusion: Acne, eczema and fungal infection were the most common skin diseases identified. The findings also indicate that more respondents between 15-19 years old were more prone to skin diseases.

Occupational skin diseases in hairdressing apprentices - has anything changed?

DEFF Research Database (Denmark)

Hougaard, Majken G; Winther, Lone; Søsted, Heidi

2015-01-01

BACKGROUND: Hairdressers are at risk for occupational skin diseases. Since 2008, an educational programme has been conducted in Danish hairdressing schools to prevent occupational skin diseases. Its effect is unknown. OBJECTIVE: To examine the current frequency of self-reported hand eczema...... was 98 cases/1000 person-years. Contact urticaria was also more prevalent in the hairdressing apprentices (7.3% versus 4.2%, p = 0.006). Both diseases increased with increasing duration of exposure to the trade. CONCLUSION: Despite educational efforts to prevent occupational skin diseases...... in the hairdressing schools, Danish apprentices are still at increased risk for hand eczema and contact urticaria. Both diseases develop after only a few years of work in hairdressing. Further preventive strategies are warranted....

Harnessing dendritic cells in inflammatory skin diseases.

Science.gov (United States)

Chu, Chung-Ching; Di Meglio, Paola; Nestle, Frank O

2011-02-01

The skin immune system harbors a complex network of dendritic cells (DCs). Recent studies highlight a diverse functional specialization of skin DC subsets. In addition to generating cellular and humoral immunity against pathogens, skin DCs are involved in tolerogenic mechanisms to ensure the maintenance of immune homeostasis, as well as in pathogenesis of chronic inflammation in the skin when excessive immune responses are initiated and unrestrained. Harnessing DCs by directly targeting DC-derived molecules or selectively modulate DC subsets is a convincing strategy to tackle inflammatory skin diseases. In this review we discuss recent advances underlining the functional specialization of skin DCs and discuss the potential implication for future DC-based therapeutic strategies. Copyright © 2011 Elsevier Ltd. All rights reserved.

Excessive Daytime Sleepiness Is a Common Symptom in Fabry Disease

Directory of Open Access Journals (Sweden)

Thomas Duning

2009-07-01

Full Text Available Fabry disease (FD is an X-linked lysosomal storage disorder characterized by a deficient activity of the enzyme α-galactosidase A, resulting in a vasculopathic involvement of various organ systems, e.g. cerebral structures. Marked cerebral vasculopathy with subsequent white matter lesions (WML are a frequent finding in FD patients. Recent studies discussed an association between cerebral white matter changes and sleep-related disturbances of breathing, which may lead to excessive daytime sleepiness (EDS. A 56-year-old Caucasian female FD patient with EDS was admitted to our sleep laboratory. Overnight polysomnography showed a Cheyne-Stokes respiration pattern with significant O2 desaturation. MR imaging revealed confluent WML including the brain stem, but no renal or cardiac involvement. We then evaluated the clinical data of 49 genetically proven FD patients (27 males; mean age 43 years from our FD centre. With a frequency of 68%, EDS exceeds the prevalence of other common symptoms of FD (angiokeratomas 61%; acroparaesthesia 51%; renal involvement 29%; cardiac involvement 27%, and the prevalence of chronic fatigue (48%. EDS was independently associated with the physical component summary of the SF-36 data (corrected R2 =–0.323, p 2 = –0.253, p < 0.001. We conclude that EDS is a common and underdiagnosed symptom in FD patients, accompanied by a significant impact on quality of life. EDS might be caused by central breathing disorders due to an affection of brain regions associated with respiratory control in FD.

The economic burden of skin disease in the United States.

Science.gov (United States)

Dehkharghani, Seena; Bible, Jason; Chen, John G; Feldman, Steven R; Fleischer, Alan B

2003-04-01

Skin diseases and their complications are a significant burden on the nation, both in terms of acute and chronic morbidities and their related expenditures for care. Because accurately calculating the cost of skin disease has proven difficult in the past, we present here multiple comparative techniques allowing a more expanded approach to estimating the overall economic burden. Our aims were to (1) determine the economic burden of primary diseases falling within the realm of skin disease, as defined by modern clinical disease classification schemes and (2) identify the specific contribution of each component of costs to the overall expense. Costs were taken as the sum of several factors, divided into direct and indirect health care costs. The direct costs included inpatient hospital costs, ambulatory visit costs (further divided into physician's office visits, outpatient department visits, and emergency department visits), prescription drug costs, and self-care/over-the-counter drug costs. Indirect costs were calculated as the outlay of days of work lost because of skin diseases. The economic burden of skin disease in the United States is large, estimated at approximately $35.9 billion for 1997, including $19.8 billion (54%) in ambulatory care costs; $7.2 billion (20.2%) in hospital inpatient charges; $3.0 billion (8.2%) in prescription drug costs; $4.3 billion (11.7%) in over-the-counter preparations; and $1.6 billion (6.0%) in indirect costs attributable to lost workdays. Our determination of the economic burden of skin care in the United States surpasses past estimates several-fold, and the model presented for calculating cost of illness allows for tracking changes in national expenses for skin care in future studies. The amount of estimated resources devoted to skin disease management is far more than required to treat conditions such as urinary incontinence ($16 billion) and hypertension ($23 billion), but far less than required to treat musculoskeletal

A survey of occupational skin disease in UK health care workers.

Science.gov (United States)

Campion, K M

2015-01-01

Occupational skin disease is a common problem among health care workers (HCWs). The prevalence of occupational skin disease in HCWs has been reported in several international studies, but not in the UK. To estimate the prevalence of occupational skin disease in a population of UK HCWs and to explore possible causative factors. Clinical and non-clinical HCWs attending for an influenza vaccine during October and November 2013 were invited to complete a brief skin questionnaire. Data from staff who stated their skin had suffered as a result of work were compared with data from staff who did not, to explore differences in potential causative factors. A total of 2762 questionnaires were analysed. The estimated prevalence of occupational skin disease was 20% for clinical and 7% for non-clinical staff. In total, 424 clinical staff stated their skin had been made worse by work. There were statistically significant differences between clinical staff with and without reported skin symptoms regarding a history of eczema, frequent hand washing and moisturizer use but no statistically significant difference in the relative proportions of soap and alcohol hand gel use. Non-clinical staff reported significantly more use of soap relative to alcohol gel than clinical staff. This study demonstrated the prevalence of occupational skin disease in a population of UK HCWs. More work is indicated to explore if the ratio of soap and alcohol gel reported in this study are typical and whether this has any impact on the development of occupational skin disease. © The Author 2014. Published by Oxford University Press on behalf of the Society of Occupational Medicine. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

miRNAs in inflammatory skin diseases and their clinical implications

DEFF Research Database (Denmark)

Løvendorf, Marianne B; Skov, Lone

2015-01-01

biological processes. The clinical implications of miRNAs are intriguing, both from a diagnostic and a therapeutic perspective. Accordingly, there is emerging evidence for the clinical potential of miRNAs as both biomarkers and possible therapeutic targets in skin diseases. Future studies will hopefully...... incomplete; however, it is known that miRNAs are implicated in various cellular processes of both normal and diseased skin. Some miRNAs appear to be consistently deregulated in several different inflammatory skin diseases, including psoriasis and atopic dermatitis, indicating a common role in fundamental...

Different renal phenotypes in related adult males with Fabry disease with the same classic genotype.

Science.gov (United States)

Mignani, Renzo; Moschella, Mariarita; Cenacchi, Giovanna; Donati, Ilaria; Flachi, Marta; Grimaldi, Daniela; Cerretani, Davide; Giovanni, Paola De; Montevecchi, Marcello; Rigotti, Angelo; Ravasio, Alessandro

2017-07-01

Fabry disease related patients with classical mutation usually exhibit similar severe phenotype especially concerning renal manifestation. A dry blood spot screening (DBS) and the DNA analysis has been performed in a 48-year-old man (Patient 1) because of paresthesia. The DBS revealed absent leukocyte α -Gal A enzyme activity while DNA analysis identified the I354K mutation. Serum creatinine and e-GFR were in normal range and also albuminuria and proteinuria were absent. The brain MRI showed ischemic lesions and a diffuse focus of gliosis in the white matter, while the echocardiogram showed a left ventricular hypertrophy. The renal biopsy performed in the case index showed a massive deposition of zebra bodies. By a familiar investigation, it was recognized that his brother (Patient 2) died 2 years before from sudden death syndrome at the age of 49. He had suffered sporadic and undiagnosed pain at the extremities, a prior cataract, bilateral neurosensorial hearing loss and left ventricular hypertrophy on Echocardiogram. His previous laboratory examinations revealed a normal serum creatinine and the absence of proteinuria. Pedigree analysis of the brothers revealed a high disease burden among family members, with an affected cousin (Patient 3) who progressed early to end-stage renal disease (ESRD) that required renal transplantation. Here we describe the clinical history of three adult male members of the same family with the same genotype who manifested different presentation and progression of the disease, particularly concerning the renal involvement.

Fabry-Perot Diaphragm Fiber Optic Sensor (DFOS for Acoustic Detection

Directory of Open Access Journals (Sweden)

Yan SUN

2007-10-01

Full Text Available A diaphragm fiber optic sensor (DFOS solely based on Fabry-Perot multiple beam interference has been designed and fabricated with micro-electric mechanical system (MEMS technology. The silicon diaphragm with an embossed center was designed with an interference gap width kept accurately. The DFOS was verified to be a truly and purely Fabry-Perot device via a critical test. Parallel testing with a Piezoelectric (PZT sensor showed that the DFOS had high sensitivity. The Fabry-Perot DFOS also demonstrated excellent performance in on-line monitoring of Partial Discharge (PD in power transformers.

Disturbed skin barrier in children with chronic kidney disease.

Science.gov (United States)

Wojtowicz-Prus, Elzbieta; Kilis-Pstrusinska, Katarzyna; Reich, Adam; Zachwieja, Katarzyna; Miklaszewska, Monika; Szczepanska, Maria; Szepietowski, Jacek C

2015-02-01

There are limited data on skin lesions in children with end-stage renal failure. The aim of the study was an evaluation of the skin barrier in children with different stages of chronic kidney disease (CKD). The prevalence of xerosis, its severity, as well as its link selected demographic factors, were examined. The study included 103 children: 72 with CKD stages 3-5 (38 on conservative treatment and 34 on dialysis) and 31 patients with primary monosymptomatic nocturnal enuresis as a control group. Initially, the study subjects described the localisation and severity of dry skin by themselves. Next, clinical evaluation of xerosis, non-invasive corneometric assessment of epidermis moisturising and the measurement of transepidermal water loss were performed. Most CKD children reported dry skin. The problem of xerosis was identified more frequently in patients on dialysis (67.6 %) than on conservative treatment (42.1 %) (p = 0.01). CKD patients divided according to skin dryness did not differ with regards to age, sex, initial kidney disease and CKD duration. Disturbed skin barrier is an important concern of children with CKD, intensifying as the disease progresses. This symptom occurs on early stages of CKD and it should be taken into consideration in the CKD management.

Isolation of lumpy skin disease virus from cattle in and around ...

African Journals Online (AJOL)

... Lumpy Skin Disease was found to be a serious disease in the study area. So, further investigation is needed on identification of the causative agents and Molecular characterization of Lumpy Skin Disease Virus and risk factors of the disease in South Wollo Zone. Keywords: Cattle, Dessie and Kombolcha, LSD, LSDV, ...

Ultraviolet A phototherapy for sclerotic skin diseases: a systematic review.

NARCIS (Netherlands)

Kroft, Ilse; Berkhof, N.J.; Kerkhof, P.C.M. van de; Gerritsen, R.; Jong, E.M.G.J. de

2008-01-01

BACKGROUND: Ultraviolet (UV) A-1 phototherapy is now available for a variety of skin diseases. Increasingly since 1995, there have been investigations of the efficacy of UVA-1 (340-400 nm) therapy for sclerotic skin diseases. Most studies undertaken treated patients who had localized scleroderma,

Protocol and methodology of the Stroke in Young Fabry Patients (sifap1) study: a prospective multicenter European study of 5,024 young stroke patients aged 18-55 years.

LENUS (Irish Health Repository)

Rolfs, Arndt

2011-01-01

Stroke in the young has not been thoroughly investigated with most previous studies based on a small number of patients from single centers. Furthermore, recent reports indicate that Fabry disease may be a significant cause for young stroke. The primary aim of our study was to determine the prevalence of Fabry disease in young stroke patients, while the secondary aim was to describe patterns of stroke in young patients.

Changes in Bacteria Induce Inflammatory Skin Diseases | Center for Cancer Research

Science.gov (United States)

Atopic dermatitis (AD) is a chronic inflammatory skin disease that manifests as dry skin with a relentless itch and eczema. AD is considered an allergic disease in which the skin inflammation manifests in response to chronic exposure to contact allergens. However, identification of a responsible allergen is uncommon. Meanwhile, analyses have demonstrated that the surface of

Stress and skin disease quality of life: the moderating role of anxiety sensitivity social concerns.

Science.gov (United States)

Dixon, L J; Witcraft, S M; McCowan, N K; Brodell, R T

2018-04-01

Stress is an important factor in the onset, exacerbation and reoccurrence of many skin diseases. Little is known about psychological risk factors that affect the association between stress and dermatological conditions. One relevant factor that may modulate this link is anxiety sensitivity (AS) social concerns - the propensity to respond fearfully to anxiety-related sensations (e.g. sweating, flushing) owing to perceived social consequences (e.g. rejection or humiliation). To gain insight into psychological factors affecting skin disease, we examined the moderating role of AS social concerns in the relationship between stress and skin disease quality of life (QoL). Participants [n = 237 (161 female), mean ± SD age 34·18 ± 9·57 years] with active skin disease symptoms were recruited online and completed questionnaires assessing stress, AS social concerns, skin disease QoL and global skin disease symptom severity. AS social concerns moderated the association between stress and skin-related emotional and social functioning in adults with skin disease. Stress was a significant predictor of the impairment associated with skin disease. Stress was linked to skin disease-related emotional and functional impairment associated with skin disease among individuals with high AS social concerns. These results highlight the potential for AS reduction interventions to break the vicious cycle of stress and skin disease symptoms and to improve psychosocial well-being in dermatology patients. © 2017 British Association of Dermatologists.

Incidence of skin and respiratory diseases among Danish hairdressing apprentices

DEFF Research Database (Denmark)

Foss-Skiftesvik, Majken H.; Winther, Lone; Johnsen, Claus R.

2017-01-01

.8% of the hairdressing apprentices had left the trade, and 70.3% of these had left because of health complaints. The most frequently reported reasons for leaving were musculoskeletal pain (47.4%) and skin diseases (47.4%), followed by respiratory symptoms (23.7%). Conclusions: Hairdressing apprentices are at increased......Background: Hairdressing is one of the professions with the highest risk of occupational skin and respiratory diseases. The incidence of these diseases in hairdressing apprentices has been studied only sparsely. Objective: To determine the incidence of skin and respiratory diseases in hairdressing...... apprentices, and to explore whether hairdressing apprentices leave the trade during training because of these diseases. Methods: A 3-year follow-up questionnaire study was conducted among 248 hairdressing apprentices and a control group comprising 816 young adults from the general population. Results...

Simplifying Skin Disease Diagnosis with Topical Nanotechnology.

Science.gov (United States)

Yeo, David C; Xu, Chenjie

2018-05-01

A new study published in the journal Nature Biomedical Engineering 1 documents a novel diagnostic technology that exploits topically applied nanotechnology to detect skin tissue biomarkers for diagnosis. This concept is demonstrated by noninvasively imaging connective tissue growth factor (CTGF) mRNA in abnormal scar cells, whole tissue, and animal models. In this commentary, we highlight the main findings and discuss their implications. Successful implementation in the clinic could give rise to self-applied, biopsy-free diagnostic technology and significantly reduce healthcare burden. Crucially, noninvasive visualization of disease biomarkers, mobile device signal acquisition, and Internet-enabled transmission could significantly transform the diagnosis of skin disease and other superficial tissues.

A Fabry-Perot interferometer system for high-speed velocity measurement

NARCIS (Netherlands)

Cheng, L.K.; Bruinsma, A.J.A.; Prinse, W.C.; Smorenburg, C.

1997-01-01

The Fabry-Perot Velocity Interferometer System (F-PVIS) is designed and built for measuring the Doppler shift of light by recording positional changes in the interferometric pattern behind the Fabry-Perot interferometer. The velocity of a surface can be deduced from the Doppler shift which is caused

[UV-irradiation-induced skin cancer as a new occupational disease].

Science.gov (United States)

Diepgen, T L; Drexler, H; Elsner, P; Schmitt, J

2015-03-01

With the revision of the German Ordinance on Occupational Diseases, skin cancer due to UV irradiation was amended as a new occupational disease to the list of occupational diseases in Germany. The new occupational disease BK 5103 has the following wording: "Squamous cell carcinoma or multiple actinic keratosis of the skin caused by natural UV irradiation". Actinic keratoses are to be considered as multiple according to this new occupational diseases if they occur as single lesions of more than five annually, or are confluent in an area > 4 cm(2) (field cancerization). It is estimated that more than 2.5 million employees are exposed to natural UV irradiation due to their work (outdoor workers) in Germany and therefore have an increased risk of skin cancer. In this article the medical and technical prerequisites which have to be fulfilled for this new occupational disease in Germany are introduced.

Global skin diseases on Instagram hashtags.

Science.gov (United States)

Braunberger, Taylor; Mounessa, Jessica; Rudningen, Kyle; Dunnick, Cory A; Dellavalle, Robert P

2017-05-15

Recently named one of the most influential phone applications, Instagram continues to grow in popularity [1]. Instagram consists of images and video posts, making it ideal for education and communication within the visual field of dermatology. In this study, we seek to determine the presence of dermatology-related content with regard to the most common cutaneous diseases of the world. We searched the account types and hashtags associated with the eight most common skin diseases globally as identified by the Global Burden of Disease (GBD) study by Hollenstein et al.: eczema, psoriasis, acne,pruritus, alopecia, decubitus ulcer, urticaria, andscabies [9]. The majority of Instagram accounts included patient experiences (n=73), private accounts(n=52), and disease advocacy and awareness groups(n=20), (total n=221). We further investigated over 2 million skin disease hashtags. The greatest numbersof hashtags were the following: #acne (n = 1,622,626),#alopecia (n = 317,566), and #eczema (n = 196,115). Our results demonstrate that patients interact withone another through Instagram. As social networking platforms become more frequently used as a source of information for patients and patient support, medical professionals must gain awareness of content available through Instagram and consider it as a means to educate the public.

Histopathological Features Of Granulomatous Skin Diseases : An Analysis Of 22 Skin Biopsies

OpenAIRE

Dhar Subhra; Dhar Sandipan

2002-01-01

In the present study, skin biopsies were analysed for histopathological (HP) changes in 22 patients with various granulomatous dermatoses. In 6 specimens, HP features were diagnostic of BT leprosy, in 1 each of BB, BL and historid LL. The HP features were was lupus valugaris (LV) in 6 biopsies, tuberculosis verrucosa cutis (TBVC) in 2, sarcoidosis in 3 and sporotrichosis in remaining 2. The study reiterated the usefulness of HP examination of all suspected cases of granulomatous skin diseases.

Occupational skin hazards and prevalence of occupational skin diseases in shoe manufacturing workers in Indonesia.

Science.gov (United States)

Febriana, Sri Awalia; Soebono, Hardyanto; Coenraads, Pieter-Jan

2014-02-01

Shoe manufacturing workers are exposed daily to an extensive range of potential physical and chemical occupational hazards. Shoe manufacturing in Indonesia is one of the industrial sectors that has shown sustained growth amongst the newly industrialized countries (NICs). In this study, we investigated the possible potential exposure of the workers to physical and occupational hazards and determined the prevalence of occupational skin diseases at a shoe manufacturing factory in Indonesia. A cross-sectional study on the observation of the working process and an inventory and risk assessment of exposure to the chemicals used. Classification of chemicals as potential sensitizers/irritants and qualitative assessments of these chemicals were done. Workers were examined and interviewed using the Nordic Occupational Skin Questionnaire-2002/LONG. The risk of Occupational skin diseases (OSD) at the shoe factory was mainly related to the exposure of the workers' skin to potential physical and chemical hazards in hot and humid environmental conditions. From a total of 514 workers, 8.5 % reported current OSD and 4.8 % reported a history of OSD. Occupational skin diseases were diagnosed in 29 % of the workers by dermatologists and 7.6 % had an occupational contact dermatitis (OCD). Of the 39 workers with contact dermatitis, 33 consented to being patch tested, 14 (3 %) workers showed a positive results and considered as having an occupational allergic contact dermatitis (OACD) and 25 (4.9 %) had an occupational irritant contact dermatitis (OICD). We observed a repeated and prolonged exposure of the workers to numerous physical and chemical skin hazards at this factory.

The skin in Parkinson's disease.

Science.gov (United States)

Flint, A

1977-09-01

The characteristic oily skin in individuals with parkinsonism has long been observed by clinicians. The oiliness seems to be associated with periods when the disease is most active. This seborrhea has been observed particularly in post-encephalitic parkinsonism, as well as in idiopathic paralysis agitans. It also occurs in phenothiazine-induced parkinsonism.

Histopathological Features Of Granulomatous Skin Diseases : An Analysis Of 22 Skin Biopsies

Directory of Open Access Journals (Sweden)

Dhar Subhra

2002-01-01

Full Text Available In the present study, skin biopsies were analysed for histopathological (HP changes in 22 patients with various granulomatous dermatoses. In 6 specimens, HP features were diagnostic of BT leprosy, in 1 each of BB, BL and historid LL. The HP features were was lupus valugaris (LV in 6 biopsies, tuberculosis verrucosa cutis (TBVC in 2, sarcoidosis in 3 and sporotrichosis in remaining 2. The study reiterated the usefulness of HP examination of all suspected cases of granulomatous skin diseases.

Identification and assessment of Anderson-Fabry disease by cardiovascular magnetic resonance noncontrast myocardial T1 mapping.

Science.gov (United States)

Sado, Daniel M; White, Steven K; Piechnik, Stefan K; Banypersad, Sanjay M; Treibel, Thomas; Captur, Gabriella; Fontana, Marianna; Maestrini, Viviana; Flett, Andrew S; Robson, Matthew D; Lachmann, Robin H; Murphy, Elaine; Mehta, Atul; Hughes, Derralynn; Neubauer, Stefan; Elliott, Perry M; Moon, James C

2013-05-01

Anderson-Fabry disease (AFD) is a rare but underdiagnosed intracellular lipid disorder that can cause left ventricular hypertrophy (LVH). Lipid is known to shorten the magnetic resonance imaging parameter T1. We hypothesized that noncontrast T1 mapping by cardiovascular magnetic resonance would provide a novel and useful measure in this disease with potential to detect early cardiac involvement and distinguish AFD LVH from other causes. Two hundred twenty-seven subjects were studied: patients with AFD (n=44; 55% with LVH), healthy volunteers (n=67; 0% with LVH), patients with hypertension (n=41; 24% with LVH), patients with hypertrophic cardiomyopathy (n=34; 100% with LVH), those with severe aortic stenosis (n=21; 81% with LVH), and patients with definite amyloid light-chain (AL) cardiac amyloidosis (n=20; 100% with LVH). T1 mapping was performed using the shortened modified Look-Locker inversion sequence on a 1.5-T magnet before gadolinium administration with primary results derived from the basal and midseptum. Compared with health volunteers, septal T1 was lower in AFD and higher in other diseases (AFD versus healthy volunteers versus other patients, 882±47, 968±32, 1018±74 milliseconds; Pgadolinium enhancement (1001±82 versus 891±38 milliseconds; P<0.0001). Noncontrast T1 mapping shows potential as a unique and powerful measurement in the imaging assessment of LVH and AFD.

Loss of Corneodesmosin Leads to Severe Skin Barrier Defect, Pruritus, and Atopy: Unraveling the Peeling Skin Disease

OpenAIRE

Oji, Vinzenz; Eckl, Katja-Martina; Aufenvenne, Karin; Nätebus, Marc; Tarinski, Tatjana; Ackermann, Katharina; Seller, Natalia; Metze, Dieter; Nürnberg, Gudrun; Fölster-Holst, Regina; Schäfer-Korting, Monika; Hausser, Ingrid; Traupe, Heiko; Hennies, Hans Christian

2010-01-01

Generalized peeling skin disease is an autosomal-recessive ichthyosiform erythroderma characterized by lifelong patchy peeling of the skin. After genome-wide linkage analysis, we have identified a homozygous nonsense mutation in CDSN in a large consanguineous family with generalized peeling skin, pruritus, and food allergies, which leads to a complete loss of corneodesmosin. In contrast to hypotrichosis simplex, which can be associated with specific dominant CDSN mutations, peeling skin disea...

The impact of skin diseases on quality of life: A multicenter study.

Science.gov (United States)

Sanclemente, G; Burgos, C; Nova, J; Hernández, F; González, C; Reyes, M I; Córdoba, N; Arévalo, Á; Meléndez, E; Colmenares, J; Ariza, S; Hernández, G

2017-04-01

To date, no formal study has been published regarding how Colombian patients with skin disorders could be affected according to their perception of disease. To determine the impact in quality of life of skin diseases in a Colombian population. This multicenter study included patients with skin disease from almost the whole country. Individuals >18 years old; of any gender; with any skin disease and who signed informed consent, were included. We applied the Colombian validated version of the Skindex-29 instrument. A total of 1896 questionnaires had sufficient information for the analyses. No significant differences in sociodemographic characteristics of patients who returned the questionnaire incomplete vs. complete, were found. Participants mean age was 41.5 years. There were no statistical differences in men vs. women regarding the global (p=0.37), symptoms (p=0.71) and emotions (p=0.32) domains, whereas statistical differences were found in the function domain (p=0.04; Mann-Whitney U test). Psoriasis, contact dermatitis, atopic dermatitis, urticaria, hair disorders, Hansen's disease, scars, hyperhidrosis and genital human papillomavirus disease scored the highest. Skindex-29 score variability as a result of differences in the location of the skin lesions, their inflammatory or non-inflammatory nature, and the start of therapy. Even the most localized or asymptomatic skin lesion in our population leads to a disruption at some level of patient's wellness. This study adds well supported scientific data of the burden of skin diseases worldwide. Copyright © 2016 AEDV. Publicado por Elsevier España, S.L.U. All rights reserved.

Implementation of Nearest Neighbor using HSV to Identify Skin Disease

Science.gov (United States)

Gerhana, Y. A.; Zulfikar, W. B.; Ramdani, A. H.; Ramdhani, M. A.

2018-01-01

Today, Android is one of the most widely used operating system in the world. Most of android device has a camera that could capture an image, this feature could be optimized to identify skin disease. The disease is one of health problem caused by bacterium, fungi, and virus. The symptoms of skin disease usually visible. In this work, the symptoms that captured as image contains HSV in every pixel of the image. HSV can extracted and then calculate to earn euclidean value. The value compared using nearest neighbor algorithm to discover closer value between image testing and image training to get highest value that decide class label or type of skin disease. The testing result show that 166 of 200 or about 80% is accurate. There are some reasons that influence the result of classification model like number of image training and quality of android device’s camera.

A risk adjustment approach to estimating the burden of skin disease in the United States.

Science.gov (United States)

Lim, Henry W; Collins, Scott A B; Resneck, Jack S; Bolognia, Jean; Hodge, Julie A; Rohrer, Thomas A; Van Beek, Marta J; Margolis, David J; Sober, Arthur J; Weinstock, Martin A; Nerenz, David R; Begolka, Wendy Smith; Moyano, Jose V

2018-01-01

Direct insurance claims tabulation and risk adjustment statistical methods can be used to estimate health care costs associated with various diseases. In this third manuscript derived from the new national Burden of Skin Disease Report from the American Academy of Dermatology, a risk adjustment method that was based on modeling the average annual costs of individuals with or without specific diseases, and specifically tailored for 24 skin disease categories, was used to estimate the economic burden of skin disease. The results were compared with the claims tabulation method used in the first 2 parts of this project. The risk adjustment method estimated the direct health care costs of skin diseases to be $46 billion in 2013, approximately $15 billion less than estimates using claims tabulation. For individual skin diseases, the risk adjustment cost estimates ranged from 11% to 297% of those obtained using claims tabulation for the 10 most costly skin disease categories. Although either method may be used for purposes of estimating the costs of skin disease, the choice of method will affect the end result. These findings serve as an important reference for future discussions about the method chosen in health care payment models to estimate both the cost of skin disease and the potential cost impact of care changes. Copyright © 2017 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

Transmission dynamics of lumpy skin disease in Ethiopia

NARCIS (Netherlands)

Molla, W.; Frankena, Klaas; Jong, de Mart

2017-01-01

Lumpy skin disease (LSD) is a severe disease of cattle caused by a Capripoxvirus and often caused epidemics in Ethiopia and many other countries. This study was undertaken to quantify the transmission between animals and to estimate the infection reproduction ratio in a predominantly mixed

Occupational skin disease in Victoria, Australia.

Science.gov (United States)

Cahill, Jennifer L; Williams, Jason D; Matheson, Melanie C; Palmer, Amanda M; Burgess, John A; Dharmage, Shyamali C; Nixon, Rosemary L

2016-05-01

To describe the characteristics of patients with occupational skin disease (OSD) in a tertiary referral clinic in Victoria, Australia. A retrospective review was conducted of records from patients seen at the Occupational Dermatology Clinic in Melbourne, Australia between 1 January 1993 and 31 December 2010. Of the 2894 people assessed in the clinic during the 18-year period, 44% were women and 56% were men. In all, 2177 (75%) were diagnosed with occupational skin disease (OSD). Of the patients with a work-related skin condition, 45% (n = 979) were considered to be atopic. The most common diagnosis in those with OSD was irritant contact dermatitis (ICD) (44%), followed by allergic contact dermatitis (33%) and endogenous eczema (11%). Women were significantly more likely to have soaps and detergents (P Occupational groups with the highest incidence of OSD were the hair and beauty professions (70 per 100 000), followed by machine and plant operators (38 per 100 000) and health-care workers (21 per 100 000). We confirm the importance of occupational contact dermatitis as the most common cause of OSD, with ICD being the most common diagnosis. There are differences in the causes of ICD between our group of male and female workers. For the first time in Australia, rates of OSD in certain industries have been calculated. © 2015 The Australasian College of Dermatologists.

Touraine Solente Gole syndrome: The elephant skin disease

Directory of Open Access Journals (Sweden)

T. M. Sheeja Rajan

2013-01-01

Full Text Available Touraine Solente Gole syndrome is a rare hereditary syndrome of primary pachydermoperiostosis, with the characteristic triad of pachydermia (or elephant like skin, periostosis and acropachia. A 27-year-old patient presented with aesthetic deformity of forehead due to deep skin folds and coarsening of facial features due to progressive thickening of skin. Associated palmoplantar hyperkeratosis with broadened of finger and toe tips and digital clubbing were noticed. Dermatologic evaluation revealed cutis verticis gyrata of scalp, seborrhoeic hyperplasia of face and hyperhidrosis. Natural history of the disease and aetiopathogenesis were reviewed. Aesthetic correction of forehead through frontal rhytidectomy was attempted.

Occupational skin diseases and prevention among sanitation ...

African Journals Online (AJOL)

in body defense, and is predisposed to disease when subjected to ... sanitation workers in Wuhan (China) for better manage- ment and ... Symptoms of facial skin photo .... ronment, diet nutrition and working environment were also poor.

Lipidomic analysis of epidermal lipids: a tool to predict progression of inflammatory skin disease in humans.

Science.gov (United States)

Li, Shan; Ganguli-Indra, Gitali; Indra, Arup K

2016-05-01

Lipidomics is the large-scale profiling and characterization of lipid species in a biological system using mass spectrometry. The skin barrier is mainly comprised of corneocytes and a lipid-enriched extracellular matrix. The major skin lipids are ceramides, cholesterol and free fatty acids (FFA). Lipid compositions are altered in inflammatory skin disorders with disrupted skin barrier such as atopic dermatitis (AD). Here we discuss some of the recent applications of lipidomics in human skin biology and in inflammatory skin diseases such as AD, psoriasis and Netherton syndrome. We also review applications of lipidomics in human skin equivalent and in pre-clinical animal models of skin diseases to gain insight into the pathogenesis of the skin disease. Expert commentary: Skin lipidomics analysis could be a fast, reliable and noninvasive tool to characterize the skin lipid profile and to monitor the progression of inflammatory skin diseases such as AD.

Cardiac sympathetic neuronal damage precedes myocardial fibrosis in patients with Anderson-Fabry disease

International Nuclear Information System (INIS)

Imbriaco, Massimo; Piscopo, Valentina; Ponsiglione, Andrea; Nappi, Carmela; Puglia, Marta; Dell'Aversana, Serena; Spinelli, Letizia; Cuocolo, Alberto; Pellegrino, Teresa; Petretta, Mario; Riccio, Eleonora; Pisani, Antonio

2017-01-01

Cardiac sympathetic denervation may be detectable in patients with Anderson-Fabry disease (AFD), suggesting its usefulness for early detection of the disease. However, the relationship between sympathetic neuronal damage measured by 123 I-metaiodobenzylguanidine (MIBG) imaging with myocardial fibrosis on cardiac magnetic resonance (CMR) is still unclear. Cardiac sympathetic innervation was assessed by 123 I-MIBG single-photon emission computed tomography (SPECT) in 25 patients with genetically proved AFD. Within one month from MIBG imaging, all patients underwent contrast-enhanced CMR. MIBG defect size and fibrosis size on CMR were measured for the left ventricle (LV) and expressed as %LV. Patients were divided into three groups according to MIBG and CMR findings: (1) matched normal, without MIBG defects and without fibrosis on CMR (n = 10); (2) unmatched, with MIBG defect but without fibrosis (n = 5); and (3) matched abnormal, with MIBG defect and fibrosis (n = 10). The three groups did not differ with respect to age, gender, α-galactosidase, proteinuria, glomerular filtration rate, and troponin I, while New York Heart Association class (p = 0.008), LV hypertrophy (p = 0.05), and enzyme replacement therapy (p = 0.02) were different among groups. Although in patients with matched abnormal findings, there was a significant correlation between MIBG defect size and area of fibrosis at CMR (r 2 = 0.98, p < 0.001), MIBG defect size was larger than fibrosis size (26 ± 23 vs. 18 ± 13%LV, p = 0.02). Sympathetic neuronal damage is frequent in AFD patients, and it may precede myocardial damage, such as fibrosis. Thus, 123 I-MIBG imaging can be considered a challenging technique for early detection of cardiac involvement in AFD. (orig.)

View and practices of dermatologists regarding preventable skin diseases

International Nuclear Information System (INIS)

Raza, N.; Seir, F.; Qadir, S.N.R.

2014-01-01

To find out views and practice of dermatologists regarding prevention of preventable skin diseases. Study Design: Cross-sectional study. Place and Duration of Study: The study was set up in Apr-May 2010 at PAF Hospital Faisal, Karachi, Pakistan. Material and Methods: A close-ended questionnaire was sent to 100 dermatologists through resource persons at different places throughout the country. It included basic information about them, their views and practice regarding prevention of these diseases. Data was managed and analyzed using SPSS-17. Results: Fifty dermatologists thought that frequency of preventable skin diseases in their clinical practice is 26-50%. Fifty-six observed educated community as the most important link for prevention, 46 held governments responsible and 42 consider busy schedule as barrier to educate community. Thirty dermatologists delivered talk to general public, 11 at schools, colleges and factories, 07 appeared on mass media and 08 prepared leaflets, pamphlets and brochures regarding preventive aspects of skin diseases at least once during last one year. Conclusion: Dermatologists in Pakistan are aware of magnitude of the problem and understand importance of public education; however only a few dermatologists have endeavored to take up this task. (author)

Issues in the use of costume and its relationship to skin diseases in ...

African Journals Online (AJOL)

This article focuses on the fundamental issues in the use of costumes and its relationship to skin diseases in the Nigerian theatre. It examines skin diseases that can be contracted through the use of contaminated costumes which can bring infections to the human skin. In the Nigerian theatre, like other theatre traditions ...

Occupational skin diseases in automotive industry workers.

Science.gov (United States)

Yakut, Yunus; Uçmak, Derya; Akkurt, Zeynep Meltem; Akdeniz, Sedat; Palanci, Yilmaz; Sula, Bilal

2014-03-01

Studies on occupational skin diseases in workers of the automotive industry are few. To investigate the prevalence of occupational skin diseases in workers of the automotive industry. Between September and December 2011, a total of 405 workers from the automotive repair industry in Diyarbakır were interviewed. They were active workers in the repair industry who had been employed for at least six months. Business owners, sellers of spare parts and accounting officers were not included. The employees were examined at their workplaces and the working conditions were observed. Detailed dermatological examination was performed. The mean age of the 405 workers who participated in the study was 27.7 ± 10.3. The mean working time of employees was 13.3 ± 10.4 years. All of the employees were male. Dermatological diseases were not detected in 144 out of 405 workers (35.6%) and at least one condition was diagnosed in 261 (64.4%). The most frequent diagnosis was callus, hyperkeratosis, clavus (27.7%), followed by nail changes (16.8%) and superficial mycoses (12.1%). Contact dermatitis was seen at a rate of 5.9%. Traumatic lesions such as hyperkeratotic lesions and nail changes were found most frequently. Traumatic lesions were common among individuals who did not use gloves. Most nail changes were localized leuconychia, a finding not reported in the studies on automotive industry workers. In accordance with the literature, irritant contact dermatitis was observed in patients with a history of atopy and who had been working for a long time. Occupational skin diseases comprise an important field in dermatology, deserving much attention. Further studies on occupational dermatology are necessary.

Clinical and genetic predictors of major cardiac events in patients with Anderson-Fabry Disease.

Science.gov (United States)

Patel, Vimal; O'Mahony, Constantinos; Hughes, Derralynn; Rahman, Mohammad Shafiqur; Coats, Caroline; Murphy, Elaine; Lachmann, Robin; Mehta, Atul; Elliott, Perry M

2015-06-01

Anderson-Fabry Disease (AFD) is an X linked lysosomal storage disorder caused by mutations in the α-galactosidase A gene. Some mutations are associated with prominent and, in many cases, exclusive cardiac involvement. The primary aims of this study were to determine the incidence of major cardiac events in AFD and to identify clinical and genetic predictors of adverse outcomes. We studied 207 patients with AFD (47% male, mean age 44 years, mean follow-up 7.1 years). Fifty-eight (28%) individuals carried mutations that have been previously associated with a cardiac predominant phenotype. Twenty-one (10%) developed severe heart failure (New York Heart Association functional class (NYHA) ≥3), 13 (6%) developed atrial fibrillation (AF), 13 (6%) received devices for the treatment of bradycardia; there were a total of 7 (3%) cardiac deaths. The incidence of the primary endpoint (a composite of new onset AF, NYHA ≥ 3 symptoms, device insertion for bradycardia and cardiac death) was 2.64 per 100 person-years (CI 1.78 to 3.77). Age (HR 1.04, CI 1.01 to 1.08, p=0.004), Mainz Severity Score Index score (HR 1.05, CI 1.01 to 1.09, p=0.012) and QRS duration (HR 1.03, CI 1.00 to 1.05, p=0.020) were significant independent predictors of the primary endpoint. The presence of a cardiac genetic variant did not predict the primary end point. AFD is associated with a high burden of cardiac morbidity and mortality. Adverse cardiac outcomes are associated with age, global disease severity and advanced cardiac disease but not the presence of cardiac genetic variants. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Mesenchymal Stem Cells for the Treatment of Skin Diseases

Directory of Open Access Journals (Sweden)

Toshio Hasegawa

2017-08-01

Full Text Available Mesenchymal stem cell (MSC-based therapy involving both autologous and allogeneic MSCs shows great promise in treating several conditions. MSCs promote wound healing, and can differentiate into multiple cell lineages, including keratinocytes. Therefore, MSCs can be used for the treatment of congenital or acquired skin defects. Because of their immunomodulatory properties, MSCs may be useful for the treatment of inflammatory and autoimmune skin diseases. In particular, MSCs might be effective for the treatment of large vitiligo lesions as immunosuppressant or cultured grafts. MSCs can also be a novel cell source for regenerating hair in the treatment of scarring alopecia and androgenic alopecia. MSCs might also be an effective treatment for alopecia areata, which is associated with autoimmunity. Stem cell therapies with topical administration of MSCs and bone marrow transplantation were shown to alleviate recessive dystrophic epidermolysis bullosa in both animal models and human subjects. In addition to cell transplantation, the mobilization of endogenous MSCs has been attempted for skin regeneration. Overall, this review highlights the great potential of MSCs for the treatment of skin diseases in the near future.

Occupational skin diseases: actual state analysis of patient management pathways in 28 European countries

NARCIS (Netherlands)

Mahler, V.; Aalto-Korte, K.; Alfonso, J. H.; Bakker, J. G.; Bauer, A.; Bensefa-Colas, L.; Boman, A.; Bourke, J.; Bubaš, M.; Bulat, P.; Chaloupka, J.; Constandt, L.; Danielsen, T. E.; Darlenski, R.; Dugonik, A.; Ettler, K.; Gimenez-Arnau, A.; Gonçalo, M.; Johansen, J. D.; John, S. M.; Kiec-Swierczynska, M.; Koch, P.; Kohánka, V.; Krecisz, B.; Larese Filon, F.; Ljubojević, S.; Macan, J.; Marinović, B.; Matura, M.; Mihatsch, P. W.; Mijakoski, D.; Minov, J.; Pace, J.; Pesonen, M.; Ramada Rodilla, J. M.; Rast, H.; Reljic, V.; Salavastru, C.; Schuster, C.; Schuttelaar, M. L.; Simon, D.; Spiewak, R.; Jurakic Tončić, R.; Urbanček, S.; Valiukevičienė, S.; Weinert, P.; Wilkinson, M.; Uter, W.

2017-01-01

Work-related skin diseases (WSD) are caused or worsened by a professional activity. Occupational skin diseases (OSD) need to fulfil additional legal criteria which differ from country to country. OSD range amongst the five most frequently notified occupational diseases (musculoskeletal diseases,

Corpus callosum involvement: a useful clue for differentiating Fabry disease from multiple sclerosis

International Nuclear Information System (INIS)

Cocozza, Sirio; Olivo, Gaia; Pontillo, Giuseppe; Ugga, Lorenzo; De Rosa, Dario; Imbriaco, Massimo; Brunetti, Arturo; Tedeschi, Enrico; Riccio, Eleonora; Migliaccio, Silvia; Pisani, Antonio; Russo, Camilla; Feriozzi, Sandro; Veroux, Massimiliano; Battaglia, Yuri; Concolino, Daniela; Pieruzzi, Federico; Tuttolomondo, Antonino; Caronia, Aurelio; Russo, Cinzia Valeria; Lanzillo, Roberta; Brescia Morra, Vincenzo

2017-01-01

Multiple sclerosis (MS) has been proposed as a possible differential diagnosis for Fabry disease (FD). The aim of this work was to evaluate the involvement of corpus callosum (CC) on MR images and its possible role as a radiological sign to differentiate between FD and MS. In this multicentric study, we retrospectively evaluated the presence of white matter lesions (WMLs) on the FLAIR images of 104 patients with FD and 117 patients with MS. The incidence of CC-WML was assessed in the two groups and also in a subgroup of 37 FD patients showing neurological symptoms. WMLs were detected in 50 of 104 FD patients (48.1%) and in all MS patients. However, a lesion in the CC was detected in only 3 FD patients (2.9%) and in 106 MS patients (90.6%). In the FD subgroup with neurological symptoms, WMLs were present in 26 of 37 patients (70.3%), with two subjects (5.4%) showing a definite callosal lesion. FD patients have a very low incidence of CC involvement on conventional MR images compared to MS, independently from the clinical presentation and the overall degree of WM involvement. Evaluating the presence of CC lesions on brain MR scans can be used as a radiological sign for a differential diagnosis between MS and FD, rapidly addressing the physician toward a correct diagnosis and subsequent treatment options. (orig.)

Corpus callosum involvement: a useful clue for differentiating Fabry disease from multiple sclerosis

Energy Technology Data Exchange (ETDEWEB)

Cocozza, Sirio; Olivo, Gaia; Pontillo, Giuseppe; Ugga, Lorenzo; De Rosa, Dario; Imbriaco, Massimo; Brunetti, Arturo; Tedeschi, Enrico [University ' ' Federico II' ' , Department of Advanced Biomedical Sciences, Naples (Italy); Riccio, Eleonora; Migliaccio, Silvia; Pisani, Antonio [University ' ' Federico II' ' , Department of Public Health, Nephrology Unit, Naples (Italy); Russo, Camilla [University ' ' Federico II' ' , Department of Advanced Biomedical Sciences, Naples (Italy); Feriozzi, Sandro [Belcolle Hospital, Nephrology and Dialysis Department, Viterbo (Italy); Veroux, Massimiliano [University Hospital of Catania, Department of Medical and Surgical Sciences and Advanced Technologies, Catania (Italy); Battaglia, Yuri [St. Anna Hospital-University, Department of Specialized Medicine, Division of Nephrology and Dialysis, Ferrara (Italy); Concolino, Daniela [University Magna Graecia, Department of Pediatrics, Catanzaro (Italy); Pieruzzi, Federico [University of Milano-Bicocca, Nephrology Unit, Milan (Italy); Tuttolomondo, Antonino [University of Palermo, Internal Medicine, DiBiMIS, Palermo (Italy); Caronia, Aurelio [Triolo Zancia Care Home, Palermo (Italy); Russo, Cinzia Valeria; Lanzillo, Roberta; Brescia Morra, Vincenzo [University ' ' Federico II' ' , Department of Neurosciences and Reproductive and Odontostomatological Sciences, Naples (Italy)

2017-06-15

Multiple sclerosis (MS) has been proposed as a possible differential diagnosis for Fabry disease (FD). The aim of this work was to evaluate the involvement of corpus callosum (CC) on MR images and its possible role as a radiological sign to differentiate between FD and MS. In this multicentric study, we retrospectively evaluated the presence of white matter lesions (WMLs) on the FLAIR images of 104 patients with FD and 117 patients with MS. The incidence of CC-WML was assessed in the two groups and also in a subgroup of 37 FD patients showing neurological symptoms. WMLs were detected in 50 of 104 FD patients (48.1%) and in all MS patients. However, a lesion in the CC was detected in only 3 FD patients (2.9%) and in 106 MS patients (90.6%). In the FD subgroup with neurological symptoms, WMLs were present in 26 of 37 patients (70.3%), with two subjects (5.4%) showing a definite callosal lesion. FD patients have a very low incidence of CC involvement on conventional MR images compared to MS, independently from the clinical presentation and the overall degree of WM involvement. Evaluating the presence of CC lesions on brain MR scans can be used as a radiological sign for a differential diagnosis between MS and FD, rapidly addressing the physician toward a correct diagnosis and subsequent treatment options. (orig.)

Skin diseases and tattoos: a five-year experience.

Science.gov (United States)

Napolitano, Maddalena; Megna, Matteo; Cappello, Milena; Mazzella, Caterina; Patruno, Cataldo

2017-05-16

Decorative tattooing as a body art form underwent an exponential increase during the last two decades, particularly among teenagers and young adults. Consequently, the number of reported adverse reactions after tattooing has increased. The most frequent reported skin reactions to tattoo include infectious (bacterial, viral, fungal) or inflammatory (allergic contact dermatitis and granulomatous reaction) diseases. Moreover, tattoos can also induce the development of typical skin lesions of pre-existing dermatoses, a phenomenon known as isomorphism reactive or Koëbner phenomenon, which commonly occurs in patients with psoriasis, vitiligo, or lichen planus. A retrospective study analyzing records data of patients attending the Department of Dermatology, University of Naples "Federico II" during 2011-2015 was performed. All cases of tattoorelated or closely located dermatitis were selected. We observed 19 patients (mean age: 26.4 year-old) showing cutaneous conditions related to the practice of tattooing. Allergic contact dermatitis was reported as the most common cutaneous disease linked to tattooing (31.6%), followed by granulomatous reactions (26.3%). These data are consistent with those already reported in literature. Our results highlight the need to develop detailed regulations regarding tattoos practice, used materials, as well as execution procedures in order to limit the outbreak of tattooing related skin diseases.

Pattern of skin diseases and occupational dermatoses in veterinarians and veterinary workers of Kashmir

Directory of Open Access Journals (Sweden)

Sumaya Zeerak

2017-01-01

Full Text Available Background: Across the globe, skin disorders represent a frequent occupational concern for many health professionals including veterinarians and there is a serious impact of skin diseases on their lives and careers. But little is known about the prevalence and distribution of skin diseases (especially occupational within this important professional group across Asia, especially India. Materials and Methods: The study was a cross-sectional study carried out over a period of one year in which veterinarians and veterinary workers of Kashmir valley were screened for various skin diseases and occupational dermatoses. Results: The study group comprised 910 veterinarians and associated workers working across the valley with the majority being males; 846 workers (93%. The mean age of the group was 38.53 years. Out of these, 267 veterinarians and associated workers (29.3% were found to have skin lesions. Of the 267 cases, 165 (61.80% had non-infectious lesions, while the rest had 102 (38.20% had infectious skin diseases. The main non-infectious lesions included friction-related disorders, eczemas, pigmentary disorders, papulosquamous disorders, and many others; while the infectious lesions were of fungal, bacterial, viral, and parasitic etiology. Fungal infections, eczemas, and melasma were more common in them, indicating an occupational etiology. Conclusion: A huge group of skin diseases was seen in veterinarians and veterinary workers, with some diseases showing an occupational nature. To reduce the burden of skin diseases in this particular group, proper prevention measures need to be instituted at work places by veterinary governing bodies of the state.

CAT SCRATCH DISEASE: RESULTS OF COMPLEMENT-FIXATION AND SKIN TESTS

Science.gov (United States)

Serologic and skin-testing data on a group of patients having cat scratch disease are presented to demonstrate a possible relationship to the psitt...indicate that the incidence of positive serologic reactions with the psitt-LGV group antigen is consistently higher in patients with cat scratch disease...patients, 2 of 5 did not respond with positive skin reactions when tested with cat scratch antigen, and at least 2 of the remaining 3 responded in a manner difficult to interpret.

Stratum corneum biomarkers for inflammatory skin diseases

NARCIS (Netherlands)

Koppes, S.A.

2017-01-01

This thesis focusses on development of biomarkers, obtained by a non-invasive sampling method, for skin inflammatory diseases relevant for occupational settings; irritant contact dermatitis (ICD), allergic contact dermatitis (ACD) and atopic dermatitis (AD). In various studies, in which different

Period of remission after treatment with UVA-1 in sclerodermic skin diseases.

NARCIS (Netherlands)

Kroft, Ilse; Kerkhof, P.C.M. van de; Gerritsen, M.J.P.; Jong, E.M.G.J. de

2008-01-01

BACKGROUND: Sclerodermic skin diseases can cause severe morbidity and disability. UVA-1 has shown to be an effective therapy for sclerodermic skin diseases. However, the period of remission in these patients is not clear. In this study, the effect and remission period of UVA-1 phototherapy in

Prevalence of physical symptoms of itch, pain and fatigue in patients with skin diseases in general practice.

Science.gov (United States)

Verhoeven, E W M; Kraaimaat, F W; van de Kerkhof, P C M; van Weel, C; Duller, P; van der Valk, P G M; van den Hoogen, H J M; Bor, J H J; Schers, H J; Evers, A W M

2007-06-01

Physical symptoms of skin diseases have been shown to negatively affect patients' wellbeing. Although insight into physical symptoms accompanying skin diseases is relevant for the management and treatment of skin diseases, the prevalence of physical symptoms among patients with skin diseases is a rather unexplored territory. The goal of the present study was to examine the prevalence of physical symptoms of itch, pain and fatigue in patients with skin diseases. On the basis of a systematic morbidity registration system in primary care, questionnaires were sent to 826 patients with skin diseases. Eventually, questionnaires from 492 patients were suitable for our analyses. Results indicated that patients with skin diseases particularly experience symptoms of itch and fatigue. Approximately 50% of all patients report experiencing these symptoms and about 25% experience these symptoms as relatively severe. Pain was relatively less frequently reported by 23% of all patients, and was on average somewhat less intense. The physical symptoms showed relatively strong correlations with disease-related quality of life and self-reported disease severity. In contrast, only moderate correlations were found with comorbidity and demographic variables, which suggests that the physical symptoms of itch, pain and fatigue are consequences of the skin diseases. Itch and fatigue and, to a somewhat lesser extent, pain have a high prevalence among patients with skin diseases. Clinicians should be encouraged to carefully assess itch, pain and fatigue in patients with skin diseases, and where appropriate focus treatment to these symptoms.

Dandruff: The most commercially exploited skin disease

Directory of Open Access Journals (Sweden)

Ranganathan S

2010-01-01

Full Text Available The article discuss in detail about the prevalence, pathophysiology, clinical manifestations of dandruff including the etio-pathology. The article also discusses in detail about various treatment methods available for dandruff. The status of dandruff being amphibious - a disease/disorder, and relatively less medical intervention is sought after for the treatment, dandruff is the most commercially exploited skin and scalp disorder/disease by personal care industries.

Managing Amphibian Disease with Skin Microbiota.

Science.gov (United States)

Woodhams, Douglas C; Bletz, Molly; Kueneman, Jordan; McKenzie, Valerie

2016-03-01

The contribution of emerging amphibian diseases to the sixth mass extinction is driving innovative wildlife management strategies, including the use of probiotics. Bioaugmentation of the skin mucosome, a dynamic environment including host and microbial components, may not provide a generalized solution. Multi-omics technologies and ecological context underlie effective implementation. Copyright © 2015 Elsevier Ltd. All rights reserved.

Viral skin diseases of the rabbit.

Science.gov (United States)

Meredith, Anna L

2013-09-01

This article describes the viral skin diseases affecting the domestic rabbit, the most important being myxomatosis. Transmission and pathogenesis, clinical signs, diagnosis, treatment, and control are described and the article will be of interest to veterinary practitioners who treat rabbits. Shope fibroma virus, Shope papilloma virus, and rabbitpox are also discussed. Copyright © 2013 Elsevier Inc. All rights reserved.

Prevalence of physical symptoms of itch, pain and fatigue in patients with skin diseases in general practice.

NARCIS (Netherlands)

Verhoeven, E.W.M.; Kraaimaat, F.W.; Kerkhof, P.C.M. van de; Weel, C. van; Duller, P.; Valk, P.G.M. van der; Hoogen, H.J.M. van den; Bor, J.H.J.; Schers, H.J.; Evers, A.W.M.

2007-01-01

BACKGROUND: Physical symptoms of skin diseases have been shown to negatively affect patients' wellbeing. Although insight into physical symptoms accompanying skin diseases is relevant for the management and treatment of skin diseases, the prevalence of physical symptoms among patients with skin

Cardiac sympathetic neuronal damage precedes myocardial fibrosis in patients with Anderson-Fabry disease

Energy Technology Data Exchange (ETDEWEB)

Imbriaco, Massimo; Piscopo, Valentina; Ponsiglione, Andrea; Nappi, Carmela; Puglia, Marta; Dell' Aversana, Serena; Spinelli, Letizia; Cuocolo, Alberto [University Federico II, Department of Advanced Biomedical Sciences, Naples (Italy); Pellegrino, Teresa [National Council of Research, Institute of Biostructure and Bioimaging, Naples (Italy); Petretta, Mario [University Federico II, Department of Translational Medical Sciences, Naples (Italy); Riccio, Eleonora; Pisani, Antonio [University of Naples Federico II, Department of Public Health, Naples (Italy)

2017-12-15

Cardiac sympathetic denervation may be detectable in patients with Anderson-Fabry disease (AFD), suggesting its usefulness for early detection of the disease. However, the relationship between sympathetic neuronal damage measured by {sup 123}I-metaiodobenzylguanidine (MIBG) imaging with myocardial fibrosis on cardiac magnetic resonance (CMR) is still unclear. Cardiac sympathetic innervation was assessed by {sup 123}I-MIBG single-photon emission computed tomography (SPECT) in 25 patients with genetically proved AFD. Within one month from MIBG imaging, all patients underwent contrast-enhanced CMR. MIBG defect size and fibrosis size on CMR were measured for the left ventricle (LV) and expressed as %LV. Patients were divided into three groups according to MIBG and CMR findings: (1) matched normal, without MIBG defects and without fibrosis on CMR (n = 10); (2) unmatched, with MIBG defect but without fibrosis (n = 5); and (3) matched abnormal, with MIBG defect and fibrosis (n = 10). The three groups did not differ with respect to age, gender, α-galactosidase, proteinuria, glomerular filtration rate, and troponin I, while New York Heart Association class (p = 0.008), LV hypertrophy (p = 0.05), and enzyme replacement therapy (p = 0.02) were different among groups. Although in patients with matched abnormal findings, there was a significant correlation between MIBG defect size and area of fibrosis at CMR (r{sup 2} = 0.98, p < 0.001), MIBG defect size was larger than fibrosis size (26 ± 23 vs. 18 ± 13%LV, p = 0.02). Sympathetic neuronal damage is frequent in AFD patients, and it may precede myocardial damage, such as fibrosis. Thus, {sup 123}I-MIBG imaging can be considered a challenging technique for early detection of cardiac involvement in AFD. (orig.)

Occupational Skin Disease Prevention: An Educational Intervention for Hairdresser Cosmetology Students.

Science.gov (United States)

Haughtigan, Kara; Main, Eve; Bragg-Underwood, Tonya; Watkins, Cecilia

2017-11-01

Cosmetologists frequently develop occupational skin disease related to workplace exposures. The purpose of this study was to evaluate an educational intervention to increase cosmetology students' occupational skin disease knowledge and use of preventive practices. A quasi-experimental design was used to evaluate students' knowledge, behaviors, intentions, expectancies, and expectations. A 20-minute verbal presentation and printed two-page educational handout were provided for participants. Statistically significant increases in knowledge, frequency of glove use, and frequency of moisturizer use were found, but the frequency of handwashing did not increase. In addition, the Behavioral Strategies subscale, the Intention subscale, and the Expectancies subscale showed statistically significant improvements. The results of this study suggest an educational intervention can increase cosmetology students' knowledge of occupational skin diseases and their use of preventive strategies.

Occupational skin diseases : Actual state analysis of patient management pathways in 28 European countries

NARCIS (Netherlands)

Mahler, V.; Aalto-Korte, K.; Alfonso, J. H.; Bakker, J. G.; Bauer, A.; Bensefa-Colas, L.; Boman, A.; Bourke, J.; Bubas, M.; Bulat, P.; Chaloupka, J.; Constandt, L.; Danielsen, T. E.; Darlenski, R.; Dugonik, A.; Ettler, K.; Gimenez-Arnau, A.; Goncalo, M.; Johansen, J. D.; John, S. M.; Kiec-Swierczynska, M.; Koch, P.; Kohanka, V.; Krecisz, B.; Filon, F. Larese; Ljubojevic, S.; Macan, J.; Marinovic, B.; Matura, M.; Mihatsch, P. W.; Mijakoski, D.; Minov, J.; Pace, J.; Pesonen, M.; Rodilla, J. M. Ramada; Rast, H.; Reljic, V.; Salavastru, C.; Schuster, C.; Schuttelaar, M. L.; Simon, D.; Spiewak, R.; Toncic, R. Jurakic; Urbancek, S.; Valiukeviciene, S.; Weinert, P.; Wilkinson, M.; Uter, W.

Background: Work-related skin diseases (WSD) are caused or worsened by a professional activity. Occupational skin diseases (OSD) need to fulfil additional legal criteria which differ from country to country. OSD range amongst the five most frequently notified occupational diseases (musculoskeletal

Thromboembolic events in Fabry disease and the impact of factor V Leiden.

Science.gov (United States)

Lenders, Malte; Karabul, Nesrin; Duning, Thomas; Schmitz, Boris; Schelleckes, Michael; Mesters, Rolf; Hense, Hans-Werner; Beck, Michael; Brand, Stefan-Martin; Brand, Eva

2015-03-10

Although several reports suggest an increased thromboembolic event rate, especially regarding strokes and TIAs at early age in patients with Fabry disease (FD), the risk for patients with FD to experience these events, the clinical relevance of additional risk factors including the concurrence of factor V Leiden (FVL), and the benefit of enzyme replacement therapy (ERT) regarding these events remain unclear. Three hundred four consecutively recruited patients with FD were evaluated for their lifetime occurrence of thromboembolic events such as stroke, TIA, deep vein thrombosis, and pulmonary embolism. The thromboembolic risk was determined in patients with FD and concurrent FVL, and the impact of ERT was assessed. The 304 patients with FD had a median age of 41 years and 53 (17.4%) had experienced at least one thromboembolic event during their lifetime. Among 226 patients with FD screened for FVL, 16 gene carriers were identified (7.1%). The occurrence of thromboembolic events in patients with FD and concurrent FVL was significantly increased compared to those without FVL (hazard ratio = 5.45, 95% confidence interval 2.29-12.99; p risk of thromboembolic events compared to those without ERT (hazard ratio = 0.362, 95% confidence interval 0.132-0.992; p = 0.0422). This observational study confirms that patients with FD have a high risk of clinically relevant thromboembolic events, which could be aggravated by a concurrence of FVL. ERT might be of benefit in preventing vascular events in patients with FD. The latter observation needs confirmation, however, by randomized and controlled clinical trials. © 2015 American Academy of Neurology.

Epidemiological characterization of lumpy skin disease outbreaks in Russia in 2016.

Science.gov (United States)

Sprygin, A; Artyuchova, E; Babin, Y; Prutnikov, P; Kostrova, E; Byadovskaya, O; Kononov, A

2018-05-10

In 2015, the lumpy skin disease virus spread throughout the Russian Federation. Following a modified stamping-out campaign, the disease re-emerged with a greater incidence across 16 regions of Southern and Central Russia. A total of 313 outbreaks were reported to OIE. The highest outbreak frequency was observed in the republics of Chechnya (108), Kalmykiya (57), and Ingushetiya (35). The disease cases predominantly occurred in June and July 2016, starting from May to December; however, no association between outbreaks and altitudes was identified (p > .05). Samples taken from infected cattle were subjected to PCR analysis, which identified the genome of the virus most frequently in skin nodules (78%), nasal swabs (23.4%), blood (13%) and sera (14.5%). Interestingly, LSDV genome was occasionally identified in lung and milk samples. Based on the PRO30 sequence analysis, lumpy skin disease virus (LSDV) strains circulating in Russia were all identical and fell within the cluster of field LSDV found worldwide. © 2018 Blackwell Verlag GmbH.

Influence of Skin Diseases on Fingerprint Recognition

Science.gov (United States)

Drahansky, Martin; Dolezel, Michal; Urbanek, Jaroslav; Brezinova, Eva; Kim, Tai-hoon

2012-01-01

There are many people who suffer from some of the skin diseases. These diseases have a strong influence on the process of fingerprint recognition. People with fingerprint diseases are unable to use fingerprint scanners, which is discriminating for them, since they are not allowed to use their fingerprints for the authentication purposes. First in this paper the various diseases, which might influence functionality of the fingerprint-based systems, are introduced, mainly from the medical point of view. This overview is followed by some examples of diseased finger fingerprints, acquired both from dactyloscopic card and electronic sensors. At the end of this paper the proposed fingerprint image enhancement algorithm is described. PMID:22654483

Influence of Skin Diseases on Fingerprint Recognition

Directory of Open Access Journals (Sweden)

Martin Drahansky

2012-01-01

Full Text Available There are many people who suffer from some of the skin diseases. These diseases have a strong influence on the process of fingerprint recognition. People with fingerprint diseases are unable to use fingerprint scanners, which is discriminating for them, since they are not allowed to use their fingerprints for the authentication purposes. First in this paper the various diseases, which might influence functionality of the fingerprint-based systems, are introduced, mainly from the medical point of view. This overview is followed by some examples of diseased finger fingerprints, acquired both from dactyloscopic card and electronic sensors. At the end of this paper the proposed fingerprint image enhancement algorithm is described.

Skin autofluorescence is associated with renal function and cardiovascular diseases in pre-dialysis chronic kidney disease patients.

Science.gov (United States)

Tanaka, Kenichi; Tani, Yoshihiro; Asai, Jun; Nemoto, Fumihiko; Kusano, Yuki; Suzuki, Hodaka; Hayashi, Yoshimitsu; Asahi, Koichi; Katoh, Tetsuo; Miyata, Toshio; Watanabe, Tsuyoshi

2011-01-01

Tissue accumulation of advanced glycation end-products (AGE) is thought to be a contributing factor to the progression of cardiovascular disease (CVD). Skin autofluorescence, a non-invasive measure of AGE accumulation using autofluorescence of the skin under ultraviolet light, has shown associations with CVD in haemodialysis patients. The present study aimed to evaluate relationships of skin autofluorescence to renal function as well as CVD in pre-dialysis patients with chronic kidney disease (CKD). Subjects in this cross-sectional analysis comprised 304 pre-dialysis CKD patients [median age, 62.0 years; median estimated glomerular filtration rate (eGFR), 54.3 mL/min/1.73 m(2); diabetes, n = 81 (26.6%)]. AGE accumulation in skin was assessed by skin autofluorescence using an autofluorescence reader. Relationships between skin autofluorescence, eGFR, CVD history and other parameters were evaluated. Skin autofluorescence correlated negatively with eGFR (r = -0.42, P skin autofluorescence with age, presence of diabetes, eGFR and CVD history in CKD patients (R(2) = 30%). Age, male gender, smoking history, skin autofluorescence and eGFR were significantly correlated with CVD history, and multiple logistic regression analysis identified age [odds ratio (OR), 1.09; 95% confidence interval (CI), 1.03-1.15; P skin autofluorescence (OR, 3.74; 95%CI, 1.54-9.24; P skin autofluorescence increased as GFR decreased and was related to CVD history in CKD patients. Non-invasive autofluorescence readers may provide potential markers for clinical risk assessment in pre-dialysis CKD patients.

Skin autofluorescence associates with vascular calcification in chronic kidney disease.

Science.gov (United States)

Wang, Angela Yee-Moon; Wong, Chun-Kwok; Yau, Yat-Yin; Wong, Sharon; Chan, Iris Hiu-Shuen; Lam, Christopher Wai-Kei

2014-08-01

This study aims to evaluate the relationship between tissue advanced glycation end products, as reflected by skin autofluorescence, and vascular calcification in chronic kidney disease. Three hundred patients with stage 3 to 5 chronic kidney disease underwent multislice computed tomography to estimate total coronary artery calcium score (CACS) and had tissue advanced glycation end product assessed using a skin autofluorescence reader. Intact parathyroid hormone (Pskin autofluorescence after age (Pskin autofluorescence was associated with a 7.43-fold (95% confidence intervals, 3.59-15.37; PSkin autofluorescence retained significance in predicting CACS ≥400 (odds ratio, 3.63; 95% confidence intervals, 1.44-9.18; P=0.006) when adjusting for age, sex, serum calcium, phosphate, albumin, C-reactive protein, lipids, blood pressure, estimated glomerular filtration rate, and intact parathyroid hormone but marginally lost significance when additionally adjusting for diabetes mellitus (odds ratio, 2.23; 95% confidence intervals, 0.81-6.14; P=0.1). Combination of diabetes mellitus and higher intact parathyroid hormone was associated with greater skin autofluorescence and CACS versus those without diabetes mellitus and having lower intact parathyroid hormone. Tissue advanced glycation end product, as reflected by skin autofluorescence, showed a significant novel association with vascular calcification in chronic kidney disease. These data suggest that increased tissue advanced glycation end product may contribute to vascular calcification in chronic kidney disease and diabetes mellitus and warrant further experimental investigation. © 2014 American Heart Association, Inc.

Levitated optomechanics with a fiber Fabry-Perot interferometer

Science.gov (United States)

Pontin, A.; Mourounas, L. S.; Geraci, A. A.; Barker, P. F.

2018-02-01

In recent years, quantum phenomena have been experimentally demonstrated on variety of optomechanical systems ranging from micro-oscillators to photonic crystals. Since single photon couplings are quite small, most experimental approaches rely on the realization of high finesse Fabry-Perot cavities in order to enhance the effective coupling. Here we show that by exploiting a, long path, low finesse fiber Fabry-Perot interferometer ground state cooling can be achieved. We model a 100 m long cavity with a finesse of 10 and analyze the impact of additional noise sources arising from the fiber. As a mechanical oscillator we consider a levitated microdisk but the same approach could be applied to other optomechanical systems.

Quality of life and emotional state in chronic skin disease.

Science.gov (United States)

Pärna, Ene; Aluoja, Anu; Kingo, Külli

2015-03-01

The aim of this study was to evaluate the associations between chronic inflammatory skin conditions and patients' emotional state and quality of life. The following self-rated questionnaires were used: Emotional State Questionnaire, a self-report scale assessing depression and anxiety symptoms; Dermatology Life Quality Index (DLQI); and RAND-36, a measure of health-related quality of life. The study group comprised 40 patients with psoriasis, 40 with eczema, 40 with acne, 15 with seborrhoeic dermatitis and 40 healthy controls. Patients with chronic skin diseases had lower DLQI and lower RAND-36 physical functioning scores, more perceived physical limitations and pain, and lower emotional well-being and general health ratings compared with the control group. In conclusion, chronic skin diseases are associated with symptoms of emotional distress, in particular insomnia and general anxiety.

All-fiber, long-active-length Fabry-Perot strain sensor.

Science.gov (United States)

Pevec, Simon; Donlagic, Denis

2011-08-01

This paper presents a high-sensitivity, all-silica, all-fiber Fabry-Perot strain-sensor. The proposed sensor provides a long active length, arbitrary length of Fabry-Perot cavity, and low intrinsic temperature sensitivity. The sensor was micro-machined from purposely-developed sensor-forming fiber that is etched and directly spliced to the lead-in fiber. This manufacturing process has good potential for cost-effective, high-volume production. Its measurement range of over 3000 µε, and strain-resolution better than 1 µε were demonstrated by the application of a commercial, multimode fiber-based signal processor.

Skin cancer risk in autoimmune connective tissue diseases.

Science.gov (United States)

Kostaki, D; Antonini, A; Peris, K; Fargnoli, M C

2014-10-01

Cutaneous malignancies have been significantly associated with autoimmune connective tissue diseases (ACTDs). This review focuses on the current state of knowledge on skin cancer risk in the most prevalent ACTDs in dermatology including lupus erythematosus, scleroderma, dermatomyositis and Sjögren syndrome. Potential pathogenetic mechanisms for the association between ACTDs and malignancy involve disease-related impairment of immune system, sustained cutaneous inflammation, drug-associated immune suppression and increased susceptibility to acquired viral infections. An additional causal role might be played by environmental factors such as UV exposure and smoking. The occurrence of skin cancer can have a profound impact on the already compromised quality of life of ACTD patients. Therefore, effective screening and monitoring strategies are essential for ACTD patients as early detection and prompt therapeutic intervention can reduce morbidity and mortality in these patients.

Primary skin fibroblasts as a model of Parkinson's disease

NARCIS (Netherlands)

Auburger, G.; Klinkenberg, M.; Droste, J.A.H.; Marcus, K.; Morales-Gordo, B.; Kunz, W.S.; Brandt, U.; Broccoli, V.; Reichmann, H.; Gispert, S.; Jendrach, M.

2012-01-01

Parkinson's disease is the second most frequent neurodegenerative disorder. While most cases occur sporadic mutations in a growing number of genes including Parkin (PARK2) and PINK1 (PARK6) have been associated with the disease. Different animal models and cell models like patient skin fibroblasts

Occupational skin diseases from 1997 to 2004 at the Department of Dermatology, University Hospital of Northern Norway (UNN): an investigation into the course and treatment of occupational skin disease 10-15 years after first consultations with a dermatologist.

Science.gov (United States)

Braun, Rosemarie; Dotterud, Lars Kåre

2016-01-01

We investigate the impact of occupational skin disease consultations among outpatients at the Dermatological Department, University Hospital, Northern Norway. From 1997 until 2004, 386 patients with occupational skin disease were examined and given advice on skin care, skin disease treatment, skin protection in further work, and on the legal rights of patients with this disease. Ten to fifteen years later, we wanted to look at these patients in terms of their work situation, the current status of their disease, the help they received from the labour offices, and their subjective quality of life. In the autumn of 2011 until the spring of 2012, a number of the patients examined in the period from 1997 to 2004 were selected and sent a questionnaire, which they were asked to answer and return, regarding their work situation and the progress and current status of their occupational disease. A total of 153 (77%) patients answered the questionnaire; 71% of these patients were still in work, and further 15% had old-age retired, 13% were working until then; 16% had retired early because of disability; 54% had changed jobs because of their occupational skin disease; 86% of the patients indicated that the skin disease had improved since our previous investigation. Our investigation into patients with occupational skin disease documented that the majority of patients who had received professional dermatological consultation and intervention offers were still in the labour market and had good control of their skin disease 10-15 years later. We discovered that 71% of the patients were still employed. 13% had remained in work until they became old age pensioners. Only 16% dropped out of work because of disability. These high percentages may indicate that our intervention has contributed positively to patients' work conditions and the course of their skin disease.

Analysis of Published Criteria for Clinically Inactive Disease in a Large Juvenile Dermatomyositis Cohort Shows That Skin Disease Is Underestimated

Science.gov (United States)

Almeida, Beverley; Campanilho‐Marques, Raquel; Arnold, Katie; Pilkington, Clarissa A.; Wedderburn, Lucy R.; Armon, Kate; Briggs, Vanja; Ellis‐Gage, Joe; Roper, Holly; Watts, Joanna; Baildam, Eileen; Hanna, Louise; Lloyd, Olivia; McCann, Liza; Roberts, Ian; McGovern, Ann; Riley, Phil; Al‐Abadi, Eslam; Ryder, Clive; Scott, Janis; Southwood, Taunton; Thomas, Beverley; Amin, Tania; Burton, Deborah; Jackson, Gillian; Van Rooyen, Vanessa; Wood, Mark; Wyatt, Sue; Browne, Michael; Davidson, Joyce; Ferguson, Sue; Gardner‐Medwin, Janet; Martin, Neil; Waxman, Liz; Foster, Helen; Friswell, Mark; Jandial, Sharmila; Qiao, Lisa; Sen, Ethan; Smith, Eve; Stevenson, Vicky; Swift, Alison; Wade, Debbie; Watson, Stuart; Crate, Lindsay; Frost, Anna; Jordan, Mary; Mosley, Ellen; Satyapal, Rangaraj; Stretton, Elizabeth; Venning, Helen; Warrier, Kishore; Almeida, Beverley; Arnold, Katie; Beard, Laura; Brown, Virginia; Campanilho‐Marques, Raquel; Enayat, Elli; Glackin, Yvonne; Halkon, Elizabeth; Hasson, Nathan; Juggins, Audrey; Kassoumeri, Laura; Lunt, Sian; Maillard, Sue; Nistala, Kiran; Pilkington, Clarissa; Simou, Stephanie; Smith, Sally; Varsani, Hemlata; Wedderburn, Lucy; Murray, Kevin; Ioannou, John; Suffield, Linda; Al‐Obaidi, Muthana; Leach, Sam; Lee, Helen; Smith, Helen; Inness, Emma; Kendall, Eunice; Mayers, David; Wilkinson, Nick; Clinch, Jacqui; Pluess‐Hall, Helen

2015-01-01

Objective The Pediatric Rheumatology International Trials Organisation (PRINTO) recently published criteria for classification of patients with juvenile dermatomyositis (DM) as having clinically inactive disease. The criteria require that at least 3 of 4 conditions be met, i.e., creatine kinase level ≤150 units/liter, Childhood Myositis Assessment Scale score ≥48, Manual Muscle Testing in 8 muscles score ≥78, and physician's global assessment of overall disease activity (PGA) ≤0.2. The present study was undertaken to test these criteria in a UK cohort of patients with juvenile DM. Methods We assessed 1,114 patient visits for the 4 items in the PRINTO criteria for clinically inactive disease. Each visit was analyzed to determine whether skin disease was present. The Disease Activity Score (DAS) for juvenile DM was determined in 59 patients. Results At 307 of the 1,114 visits, clinically inactive disease was achieved based on the 3 muscle criteria (but with a PGA of >0.2); rash was present at 65.8% of these visits and nailfold capillary abnormalities at 35.2%. When PGA ≤0.2 was one of the 3 criteria that were met, the frequency of skin signs was significantly lower (rash in 23.1% and nailfold capillary abnormalities in 8.7%). If PGA was considered an essential criterion for clinically inactive disease (P‐CID), patients with active skin disease were less likely to be categorized as having clinically inactive disease (a median DAS skin score of 0 [of a possible maximum of 9] in visits where the PGA was ≤0.2, versus a median DAS skin score of 4 in patients meeting the 3 muscle criteria [with a PGA of >0.2]; P < 0.001). Use of the P‐CID led to improvements in the positive predictive value and the positive likelihood ratio (85.4% and 11.0, respectively, compared to 72.9% and 5.1 with the current criteria). Conclusion There was a high frequency of skin disease among patients with juvenile DM who did not meet the PGA criterion for inactive disease but met

Helicobacter pylori-induced premature senescence of extragastric cells may contribute to chronic skin diseases.

Science.gov (United States)

Lewinska, Anna; Wnuk, Maciej

2017-04-01

Helicobacter pylori, one of the most frequently observed bacterium in the human intestinal flora, has been widely studied since Marshall and Warren documented a link between the presence of H. pylori in the gastrointestinal tract and gastritis and gastric ulcers. Interestingly, H. pylori has also been found in several other epithelial tissues, including the eyes, ears, nose and skin that may have direct or indirect effects on host physiology and may contribute to extragastric diseases, e.g. chronic skin diseases. More recently, it has been shown that H. pylori cytotoxin CagA expression induces cellular senescence of human gastric nonpolarized epithelial cells that may lead to gastrointestinal disorders and systemic inflammation. Here, we hypothesize that also chronic skin diseases may be promoted by stress-induced premature senescence (SIPS) of skin cells, namely fibroblasts and keratinocytes, stimulated with H. pylori cytotoxins. Future studies involving cell culture models and clinical specimens are needed to verify the involvement of H. pylori in SIPS-based chronic skin diseases.

A randomised, double-blind, placebo-controlled, crossover study to assess the efficacy and safety of three dosing schedules of agalsidase alfa enzyme replacement therapy for Fabry disease.

Science.gov (United States)

Hughes, D A; Deegan, P B; Milligan, A; Wright, N; Butler, L H; Jacobs, A; Mehta, A B

2013-07-01

Anecdotal reports suggest that the currently approved dosing interval of agalsidase alfa (0.2 mg/kg/2 weeks) for Fabry disease treatment is too long. This randomised, double-blind, placebo-controlled, crossover study investigated three altered dosing intervals. 18 Fabry patients received three agalsidase alfa dosing schedules, each for four weeks (A: 0.2 mg/kg∗2 weeks, B: 0.1 mg/kg/week, C: 0.2 mg/kg/week). Health state, pain levels, sweat volume and latency and plasma and urinary globotriaosylceramide levels were recorded throughout the study. No significant differences were found among the schedules for the primary efficacy outcome of self-assessed health state, or for pain scores. A trend toward increased sweat volume on QSART testing, and reduced urine globotriaosylceramide concentration were seen with treatment schedule C. Agalsidase alfa was safe and well tolerated with all schedules. In conclusion, the primary analyses did not find weekly infusions of agalsidase alfa to be statistically better than the approved dosing schedule however the data indicates that further studies with more patients over a longer period are required to more accurately determine the optimum dose and schedule. Copyright © 2013 Elsevier Inc. All rights reserved.

Crescent shaped Fabry-Perot fiber cavity for ultra-sensitive strain measurement

Science.gov (United States)

Liu, Ye; Wang, D. N.; Chen, W. P.

2016-12-01

Optical Fabry-Perot interferometer sensors based on inner air-cavity is featured with compact size, good robustness and high strain sensitivity, especially when an ultra-thin air-cavity is adopted. The typical shape of Fabry-Perot inner air-cavity with reflection mode of operation is elliptic, with minor axis along with and major axis perpendicular to the fiber length. The first reflection surface is diverging whereas the second one is converging. To increase the visibility of the output interference pattern, the length of major axis should be large for a given cavity length. However, the largest value of the major axis is limited by the optical fiber diameter. If the major axis length reaches the fiber diameter, the robustness of the Fabry-Perot cavity device would be decreased. Here we demonstrate an ultra-thin crescent shaped Fabry-Perot cavity for strain sensing with ultra-high sensitivity and low temperature cross-sensitivity. The crescent-shape cavity consists of two converging reflection surfaces, which provide the advantages of enhanced strain sensitivity when compared with elliptic or D-shaped FP cavity. The device is fabricated by fusion splicing an etched multimode fiber with a single mode fiber, and hence is simple in structure and economic in cost.

Fabry disease under enzyme replacement therapy-new insights in efficacy of different dosages.

Science.gov (United States)

Krämer, Johannes; Lenders, Malte; Canaan-Kühl, Sima; Nordbeck, Peter; Üçeyler, Nurcan; Blaschke, Daniela; Duning, Thomas; Reiermann, Stefanie; Stypmann, Jörg; Brand, Stefan-Martin; Gottschling, Timo; Störk, Stefan; Wanner, Christoph; Sommer, Claudia; Brand, Eva; Weidemann, Frank

2017-11-23

Fabry patients on reduced dose of agalsidase-beta or after switch to agalsidase-alfa show a decline in estimated glomerular filtration rate (eGFR) and an increase of the Mainz Severity Score Index. In this prospective observational study, we assessed end-organ damage and clinical symptoms in 112 patients who had received agalsidase-beta (1.0 mg/kg) for >1 year, who were (i) non-randomly assigned to continue this treatment regime (regular-dose group, n = 37); (ii) received a reduced dose of agalsidase-beta and subsequent switch to agalsidase-alfa (0.2 mg/kg) or a direct switch to 0.2 mg/kg agalsidase-alfa (switch group, n = 38); or (iii) were re-switched to agalsidase-beta after receiving agalsidase-alfa for at least 12 months (re-switch group, n = 37) with a median follow-up of 53 (38-57) months. eGFR of patients in the regular-dose group remained stable. Patients in the switch group showed an annual eGFR loss of - 4.6  ±  9.1 mL/min/1.73 m2 (P risk 0.42; 95% confidence interval 0.19-0.93; P = 0.02). Lyso-Gb3 remained stable in the switch (P = 0.97) and the regular-dose (P = 0.48) groups, but decreased in the re-switch group after change of the therapy regimen (P < 0.05). After switch to agalsidase-alfa, Fabry patients experienced a continuous decline in eGFR, while this decline was attenuated in patients who were re-switched to agalsidase-beta. Decreasing lyso-Gb3 levels may indicate a better treatment response in the latter group. © The Author 2017. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved.

Analogs of human genetic skin disease in domesticated animals

Directory of Open Access Journals (Sweden)

Justin Finch, MD

2017-09-01

The genetic skin diseases we will review are pigmentary mosaicism, piebaldism, albinism, Griscelli syndrome, ectodermal dysplasias, Waardenburg syndrome, and mucinosis in both humans and domesticated animals.

Use of PZT's for adaptive control of Fabry-Perot etalon plate figure

Science.gov (United States)

Skinner, WIlbert; Niciejewski, R.

2005-01-01

A Fabry Perot etalon, consisting of two spaced and reflective glass flats, provides the mechanism by which high resolution spectroscopy may be performed over narrow spectral regions. Space based applications include direct measurements of Doppler shifts of airglow absorption and emission features and the Doppler broadening of spectral lines. The technique requires a high degree of parallelism between the two flats to be maintained through harsh launch conditions. Monitoring and adjusting the plate figure by illuminating the Fabry Perot interferometer with a suitable monochromatic source may be performed on orbit to actively control of the parallelism of the flats. This report describes the use of such a technique in a laboratory environment applied to a piezo-electric stack attached to the center of a Fabry Perot etalon.

Recurrent outbreaks of lumpy skin disease and its economic impact ...

African Journals Online (AJOL)

Lumpy skin disease (LSD) is an acute, severe and economically important transboundary disease of cattle caused by LSD virus (LSDV). Suspected outbreaks of LSD are frequently reported in Nigeria, but laboratory diagnosis is seldom carried out and the economic impact of the disease is unknown. This study investigated ...

Study on the structure of bridge surface of the micro Fabry-Perot cavity tunable filter

International Nuclear Information System (INIS)

Meng Qinghua; Luo Huan; Bao Shiwei; Zhou Yifan; Chen Sihai

2011-01-01

Micro Fabry-Perot cavity tunable filters are widely applied in the area of Pushbroom Hyperspectral imaging, DWDM optical communication system and self-adaptive optics. With small volume, lower consumption and cost, the Micro Fabry-Perot cavity tunable filter can realize superior response speed, large spectral range, high definition and high reliability. By deposition metal membrane on silicon chip by MEMS technology, the micro Fabry-Perot cavity has been achieved, which is actuated by electrostatic force and can realize the function of an optical filter. In this paper, the micro-bridge structure of the micro Fabry-Perot cavity tunable filter has been studied. Finite element analysis software COMSOL Multiphysics has been adopted to design the structure of the micro-bridge of the micro filter. In order to simulate the working mechanism of the micro Fabry-Perot cavity and study the electrical and mechanical characteristics of the micro tunable filter,the static and dynamic characteriastics are analyzed, such as stress, displacement, transient response, etc. The corresponding parameters of the structure are considered as well by optimizition the filter's sustain structure.

Occupational skin diseases from 1997 to 2004 at the Department of Dermatology, University Hospital of Northern Norway (UNN: an investigation into the course and treatment of occupational skin disease 10–15 years after first consultations with a dermatologist

Directory of Open Access Journals (Sweden)

Rosemarie Braun

2016-05-01

Full Text Available Objectives: We investigate the impact of occupational skin disease consultations among outpatients at the Dermatological Department, University Hospital, Northern Norway. Study design: From 1997 until 2004, 386 patients with occupational skin disease were examined and given advice on skin care, skin disease treatment, skin protection in further work, and on the legal rights of patients with this disease. Ten to fifteen years later, we wanted to look at these patients in terms of their work situation, the current status of their disease, the help they received from the labour offices, and their subjective quality of life. Material and methods: In the autumn of 2011 until the spring of 2012, a number of the patients examined in the period from 1997 to 2004 were selected and sent a questionnaire, which they were asked to answer and return, regarding their work situation and the progress and current status of their occupational disease. Results: A total of 153 (77% patients answered the questionnaire; 71% of these patients were still in work, and further 15% had old-age retired, 13% were working until then; 16% had retired early because of disability; 54% had changed jobs because of their occupational skin disease; 86% of the patients indicated that the skin disease had improved since our previous investigation. Conclusions: Our investigation into patients with occupational skin disease documented that the majority of patients who had received professional dermatological consultation and intervention offers were still in the labour market and had good control of their skin disease 10–15 years later. We discovered that 71% of the patients were still employed. 13% had remained in work until they became old age pensioners. Only 16% dropped out of work because of disability. These high percentages may indicate that our intervention has contributed positively to patients’ work conditions and the course of their skin disease.

Occupational skin diseases from 1997 to 2004 at the Department of Dermatology, University Hospital of Northern Norway (UNN): an investigation into the course and treatment of occupational skin disease 10–15 years after first consultations with a dermatologist

Science.gov (United States)

Braun, Rosemarie; Dotterud, Lars Kåre

2016-01-01

Objectives We investigate the impact of occupational skin disease consultations among outpatients at the Dermatological Department, University Hospital, Northern Norway. Study design From 1997 until 2004, 386 patients with occupational skin disease were examined and given advice on skin care, skin disease treatment, skin protection in further work, and on the legal rights of patients with this disease. Ten to fifteen years later, we wanted to look at these patients in terms of their work situation, the current status of their disease, the help they received from the labour offices, and their subjective quality of life. Material and methods In the autumn of 2011 until the spring of 2012, a number of the patients examined in the period from 1997 to 2004 were selected and sent a questionnaire, which they were asked to answer and return, regarding their work situation and the progress and current status of their occupational disease. Results A total of 153 (77%) patients answered the questionnaire; 71% of these patients were still in work, and further 15% had old-age retired, 13% were working until then; 16% had retired early because of disability; 54% had changed jobs because of their occupational skin disease; 86% of the patients indicated that the skin disease had improved since our previous investigation. Conclusions Our investigation into patients with occupational skin disease documented that the majority of patients who had received professional dermatological consultation and intervention offers were still in the labour market and had good control of their skin disease 10–15 years later. We discovered that 71% of the patients were still employed. 13% had remained in work until they became old age pensioners. Only 16% dropped out of work because of disability. These high percentages may indicate that our intervention has contributed positively to patients’ work conditions and the course of their skin disease. PMID:27172061

Interferon and biologic signatures in dermatomyositis skin: specificity and heterogeneity across diseases.

Directory of Open Access Journals (Sweden)

David Wong

Full Text Available BACKGROUND: Dermatomyositis (DM is an autoimmune disease that mainly affects the skin, muscle, and lung. The pathogenesis of skin inflammation in DM is not well understood. METHODOLOGY AND FINDINGS: We analyzed genome-wide expression data in DM skin and compared them to those from healthy controls. We observed a robust upregulation of interferon (IFN-inducible genes in DM skin, as well as several other gene modules pertaining to inflammation, complement activation, and epidermal activation and differentiation. The interferon (IFN-inducible genes within the DM signature were present not only in DM and lupus, but also cutaneous herpes simplex-2 infection and to a lesser degree, psoriasis. This IFN signature was absent or weakly present in atopic dermatitis, allergic contact dermatitis, acne vulgaris, systemic sclerosis, and localized scleroderma/morphea. We observed that the IFN signature in DM skin appears to be more closely related to type I than type II IFN based on in vitro IFN stimulation expression signatures. However, quantitation of IFN mRNAs in DM skin shows that the majority of known type I IFNs, as well as IFN g, are overexpressed in DM skin. In addition, both IFN-beta and IFN-gamma (but not other type I IFN transcript levels were highly correlated with the degree of the in vivo IFN transcriptional response in DM skin. CONCLUSIONS AND SIGNIFICANCE: As in the blood and muscle, DM skin is characterized by an overwhelming presence of an IFN signature, although it is difficult to conclusively define this response as type I or type II. Understanding the significance of the IFN signature in this wide array of inflammatory diseases will be furthered by identification of the nature of the cells that both produce and respond to IFN, as well as which IFN subtype is biologically active in each diseased tissue.

WILDE,OSCAR SKIN-DISEASE - ALLERGIC CONTACT-DERMATITIS

NARCIS (Netherlands)

NATER, JP

During the last years of his life, Oscar Wilde (1856-1900) suffered from a suppurating otitis media as well as from an unidentified skin disease. The eruption was localized to his face, arms, chest and back and itched severely. A new theory is suggested, based on the fact that Wilde almost certainly

Climate change and skin disease.

Science.gov (United States)

Lundgren, Ashley D

2018-04-01

Despite commanding essentially universal scientific consensus, climate change remains a divisive and poorly understood topic in the United States. Familiarity with this subject is not just for climate scientists. The impact of climate change on human morbidity and mortality may be considerable; thus, physicians also should be knowledgeable in this realm. Climate change science can seem opaque and inferential, creating fertile ground for political polemics and undoubtedly contributing to confusion among the general public. This puts physicians in a pivotal position to facilitate a practical understanding of climate change in the public sphere by discussing changes in disease patterns and their possible relationship to a changing climate. This article provides a background on climate change for dermatologists and highlights how climate change may impact the management of skin disease across the United States.

Patient Education in Chronic Skin Diseases: A Systematic Review

NARCIS (Netherlands)

de Bes, J.; Legierse, C.M.; Prinsen, C.A.C.; de Korte, J.

2011-01-01

The negative impact of skin disease on quality of life (QoL) has been described in many studies. Patient education as an adjunct to treatment, with the aim of improving QoL and reducing disease severity, is a relatively new technique in dermatology. The objective of this article is to analyse and

Skin tags associated with obesity and diabetes mellitus in patients with chronic kidney disease

OpenAIRE

Sari Funda; Inci Ayca; Dolu Suleyman; Sari Ramazan

2017-01-01

Introduction/Objective. Both chronic kidney disease and skin tags are associated with similar cardiovascular risk factors such as obesity, diabetes mellitus, dyslipidemia, hypertension, etc. The aim of this study was to determine the prevalence of skin tags in patients with chronic kidney disease, and to assess the relationship between skin tags and cardiovascular risk factors such as diabetes, hypertension, dyslipidemia, obesity, and metabolic syndrome. Methods. We evaluated 358 patients [14...

Skin denervation and its clinical significance in late-stage chronic kidney disease.

Science.gov (United States)

Chao, Chi-Chao; Wu, Vin-Cent; Tan, Chun-Hsiang; Wang, Yi-Mei; Tseng, Ming-Tsung; Wu, Pei-Chen; Lin, Yea-Huey; Lin, Whei-Min; Wu, Kwan-Dun; Hsieh, Sung-Tsang

2011-02-01

To investigate the skin innervation and its clinical significance in late-stage chronic kidney disease (CKD). Case series. National Taiwan University Hospital, Taipei, Taiwan. Forty consecutive nondiabetic patients with late-stage CKD (14 female and 26 male; mean [SD] age, 60.7 [12.3] years), including 2 cases with stage 3 CKD, 6 with stage 4 CKD, and 32 with stage 5 CKD, ie, end-stage kidney disease. Clinical evaluation of neurological deficits, nerve conduction study, autonomic function tests, and a 3-mm-diameter skin biopsy specimen taken from the distal leg. Quantitation of epidermal innervation, parameters of nerve conduction study, R-R interval variability, and sympathetic skin response. Clinically, 21 patients (52.5%) were symptomatic with paresthesia over the limbs or autonomic symptoms. The intraepidermal nerve fiber (IENF) density was markedly reduced in patients with CKD compared with age- and sex-matched controls (mean [SD], 2.8 [2.0] vs 8.6 [2.8] fibers/mm; P Skin denervation was observed in 27 patients (67.5%). Fifteen patients (37.5%) had abnormalities on nerve conduction studies, and 29 patients (72.5%) had abnormal results on autonomic function tests. By analysis with multiple regression models, the IENF density was negatively correlated with the duration of renal disease (P = .02). Additionally, the R-R interval variability at rest was linearly correlated with the IENF density (P = .02) and the absence of sympathetic skin responses at the soles was associated with reduced IENF density (P = .03). Small-fiber sensory and autonomic neuropathies constitute the major form of neuropathy in late-stage CKD. Furthermore, skin denervation was associated with the duration of renal disease.

Puffy skin disease (PSD) in rainbow trout, Oncorhynchus mykiss (Walbaum): a case definition.

Science.gov (United States)

Maddocks, C E; Nolan, E T; Feist, S W; Crumlish, M; Richards, R H; Williams, C F

2015-07-01

Puffy skin disease (PSD) is a disease that causes skin pathology in rainbow trout, Oncorhynchus mykiss (Walbaum). Incidence of PSD in UK fish farms and fisheries has increased sharply in the last decade, with growing concern from both industry sectors. This paper provides the first comprehensive case definition of PSD, combining clinical and pathological observations of diseased rainbow trout from both fish farms and fisheries. The defining features of PSD, as summarized in the case definition, were focal lateral flank skin lesions that appeared as cutaneous swelling with pigment loss and petechiae. These were associated with lethargy, poor body condition, inappetance and low level mortality. Epidermal hyperplasia and spongiosis, oedema of the dermis stratum spongiosum and a mild diffuse inflammatory cellularity were typical in histopathology of skin. A specific pathogen or aetiology was not identified. Prevalence and severity of skin lesions was greatest during late summer and autumn, with the highest prevalence being 95%. Atypical lesions seen in winter and spring were suggestive of clinical resolution. PSD holds important implications for both trout aquaculture and still water trout fisheries. This case definition will aid future diagnosis, help avoid confusion with other skin conditions and promote prompt and consistent reporting. © 2014 John Wiley & Sons Ltd.

Colonization of fish skin is vital for Vibrio anguillarum to cause disease.

Science.gov (United States)

Weber, Barbara; Chen, Chang; Milton, Debra L

2010-02-01

Vibrio anguillarum causes a fatal haemorrhagic septicaemia in marine fish. During initial stages of infection, host surfaces are colonized; however, few virulence factors required for colonization of the host are identified. In this study, in vivo bioluminescent imaging was used to analyse directly the colonization of the whole rainbow trout animal by V. anguillarum. The wild type rapidly colonized both the skin and the intestines by 24 h; however, the bacterial numbers on the skin were significantly higher than in the intestines indicating that skin colonization may be important for disease to occur. Mutants defective for the anguibactin iron uptake system, exopolysaccharide transport, or Hfq, an RNA chaperone, were attenuated for virulence, did not colonize the skin, and penetrated skin mucus less efficiently than the wild type. These mutants, however, did colonize the intestines and were as resistant to 2% bile salts as is the wild type. Moreover, exopolysaccharide mutants were significantly more sensitive to lysozyme and antimicrobial peptides, while the Hfq and anguibactin mutants were sensitive to lysozyme compared with the wild type. Vibrio anguillarum encodes several mechanisms to protect against antimicrobial components of skin mucus enabling an amazingly abundant growth on the skin enhancing its disease opportunities. © 2010 Society for Applied Microbiology and Blackwell Publishing Ltd.

Pattern of skin diseases in patients visiting a tertiary care health facility at hyderabad, pakistan

International Nuclear Information System (INIS)

Memon, K.N.; Soomro, R.A.

2011-01-01

Background: The morbidity associated with skin diseases makes them an important public health problem. Very scanty literature is found on the problem which is either disease-based, community based or a specified population group-based. objective of this study was to assess the pattern of skin diseases in patients and to determine their relation with demographic characteristics. Methods: This descriptive study was conducted at dermatology out-patient department of liaquat university hospital, jamshoro, pakistan for the period from 10th january to 10th february 2008. Four hundred and eleven patients were enrolled during the study period. The study population comprised of newly diagnosed cases as well as relapsing cases presenting at the facility. The criterion for registering the patients was clinical diagnosis although few cases were supported by investigations, too. The data was collected through a pre-designed questionnaire and analysed through spss-12. Result: Skin problems are fairly common among children and women. in children of less than 10 years age, 82.5% visiting the facility suffer from infectious skin diseases. among the infectious diseases, scabies is highly prevalent disease (45.5%). the majority of the patients belong to rural or slum areas (77.2%), low socio-economic strata (68.9%), and living in overcrowded families (82%). a strong association between skin infections and water inadequacy (p=0.016) was found, and scabies shows a strong statistical association with overcrowding (p=0.025). Conclusion: The skin diseases involve every age strata of our population but it is fairly common in younger age group, women, and people who do not practice hygiene. Out-reach services for the rural and slum communities and health education will give good results on prevention of skin diseases. (author)

Cutaneous Hypersensitivity Dermatoses in the Feline Patient: A Review of Allergic Skin Disease in Cats

Directory of Open Access Journals (Sweden)

Alison Diesel

2017-05-01

Full Text Available Feline allergic skin disease presents a unique set of challenges to the veterinary practitioner. Although there is some similarity to what is seen in the allergic canine patient, cutaneous hypersensitivity dermatoses in cats can manifest with strikingly different clinical signs, treatment options and outcomes, and secondary complications/disease entities. Additionally, less is known about the pathogenesis of feline allergic skin diseases, particularly “feline atopic syndrome” when compared to dogs or people. This article aims to review what is currently known in regards to allergic skin disease in the feline patient, with focus on non-flea, non-food hypersensitivity dermatitis.

Cutaneous Hypersensitivity Dermatoses in the Feline Patient: A Review of Allergic Skin Disease in Cats.

Science.gov (United States)

Diesel, Alison

2017-05-09

Feline allergic skin disease presents a unique set of challenges to the veterinary practitioner. Although there is some similarity to what is seen in the allergic canine patient, cutaneous hypersensitivity dermatoses in cats can manifest with strikingly different clinical signs, treatment options and outcomes, and secondary complications/disease entities. Additionally, less is known about the pathogenesis of feline allergic skin diseases, particularly "feline atopic syndrome" when compared to dogs or people. This article aims to review what is currently known in regards to allergic skin disease in the feline patient, with focus on non-flea, non-food hypersensitivity dermatitis.

Skin manifestations of chronic kidney disease.

Science.gov (United States)

Robles-Mendez, J C; Vazquez-Martinez, O; Ocampo-Candiani, J

2015-10-01

Skin manifestations associated with chronic kidney disease are very common. Most of these conditions present in the end stages and may affect the patient's quality of life. Knowledge of these entities can contribute to establishing an accurate diagnosis and prognosis. Severe renal pruritus is associated with increased mortality and a poor prognosis. Nail exploration can provide clues about albumin and urea levels. Nephrogenic systemic fibrosis is a preventable disease associated with gadolinium contrast. Comorbidities, such as diabetes mellitus and secondary hyperparathyroidism, can lead to acquired perforating dermatosis and calciphylaxis, respectively. Effective and innovative treatments are available for all of these conditions. Copyright © 2015 Elsevier España, S.L.U. and AEDV. All rights reserved.

The causes of skin damage and leg ulceration in chronic venous disease.

Science.gov (United States)

Smith, Philip Coleridge

2006-09-01

Chronic venous disease with skin changes of the leg is a common condition affecting up to 1 in 20 people in westernized countries. The causes of this problem are not fully understood, although research in recent years has revealed a number of important mechanisms that contribute to the disease process. Patients with chronic venous disease suffer persistently raised pressures in their deep and superficial veins in the lower limb. Leucocytes become "trapped" in the circulation of the leg during periods of venous hyper-tension produced by sitting or standing. Studies of the plasma levels of neutrophil granule enzymes shows that these are increased during periods of venous hypertension, suggesting that this causes activation of the neutrophils. Investigation of the leucocyte surface ligands CD11b and CD62L shows that the more activated neutrophils and monocytes are sequestered during venous hypertension. Measurement of plasma levels of the soluble parts of the endothelial adhesion molecules VCAM, ICAM, and ELAM show that these are all elevated in patients with chronic venous disease compared to controls. Following 30 minutes of venous hypertension produced by standing, these levels are further increased. These data suggest that venous hypertension causes neutrophil and monocyte activation, which in turn causes injury to the endothelium. Chronic injury to the endothelium leads to a chronic inflammatory condition of the skin that we know clinically as lipodermatosclerosis. This is mediated by perivascular inflammatory cells, principally macrophages, in the skin microcirculation. These stimulate fibroblasts in the skin leading to tissue remodeling and laying down of fibrous tissue. Vascular endothelial growth factor stimulates proliferation of capillaries within the skin. Skin in this state has the potential to ulcerate in response to minor injury.

Fabry Disease in Families With Hypertrophic Cardiomyopathy: Clinical Manifestations in the Classic and Later-Onset Phenotypes.

Science.gov (United States)

Adalsteinsdottir, Berglind; Palsson, Runolfur; Desnick, Robert J; Gardarsdottir, Marianna; Teekakirikul, Polakit; Maron, Martin; Appelbaum, Evan; Neisius, Ulf; Maron, Barry J; Burke, Michael A; Chen, Brenden; Pagant, Silvere; Madsen, Christoffer V; Danielsen, Ragnar; Arngrimsson, Reynir; Feldt-Rasmussen, Ulla; Seidman, Jonathan G; Seidman, Christine E; Gunnarsson, Gunnar Th

2017-08-01

The screening of Icelandic patients clinically diagnosed with hypertrophic cardiomyopathy resulted in identification of 8 individuals from 2 families with X-linked Fabry disease (FD) caused by GLA (α-galactosidase A gene) mutations encoding p.D322E (family A) or p.I232T (family B). Familial screening of at-risk relatives identified mutations in 16 family A members (8 men and 8 heterozygotes) and 25 family B members (10 men and 15 heterozygotes). Clinical assessments, α-galactosidase A (α-GalA) activities, glycosphingolipid substrate levels, and in vitro mutation expression were used to categorize p.D322E as a classic FD mutation and p.I232T as a later-onset FD mutation. In vitro expression revealed that p.D322E and p.I232T had α-GalA activities of 1.4% and 14.9% of the mean wild-type activity, respectively. Family A men had markedly decreased α-GalA activity and childhood-onset classic manifestations, except for angiokeratoma and cornea verticillata. Family B men had residual α-GalA activity and developed FD manifestations in adulthood. Despite these differences, all family A and family B men >30 years of age had left ventricular hypertrophy, which was mainly asymmetrical, and had similar late gadolinium enhancement patterns. Ischemic stroke and severe white matter lesions were more frequent among family A men, but neither family A nor family B men had overt renal disease. Family A and family B heterozygotes had less severe or no clinical manifestations. Men with classic or later-onset FD caused by GLA missense mutations developed prominent and similar cardiovascular disease at similar ages, despite markedly different α-GalA activities. © 2017 American Heart Association, Inc.

A STUDY ON PATTERN OF SKIN DISEASES AMONG CHILDREN PRESENTING TO RIMS, KADAPA, A. P.

OpenAIRE

Vamseedhar; Masroor Ahamed; Vijaya Kumar; Rama Mohan

2015-01-01

BACKGROUND: Little information is available about the prevalence of skin conditions among children in the general population in India. Low socioeconomic status, malnutrition, overcrowding and poor standards of hygiene are important factors accounting for the distribut ion of skin diseases in developing countries such as India. AIM OF THE STUDY: To study prevalence of skin diseases among children presenting to paediatric OPD. METERIALS AND METHODS: A predesigned ...

α-Synuclein inclusions in the skin of Parkinson's disease and parkinsonism.

Science.gov (United States)

Rodríguez-Leyva, Ildefonso; Calderón-Garcidueñas, Ana Laura; Jiménez-Capdeville, María E; Rentería-Palomo, Ana Arely; Hernandez-Rodriguez, Héctor Gerardo; Valdés-Rodríguez, Rodrigo; Fuentes-Ahumada, Cornelia; Torres-Álvarez, Bertha; Sepúlveda-Saavedra, Julio; Soto-Domínguez, Adolfo; Santoyo, Martha E; Rodriguez-Moreno, José Ildefonso; Castanedo-Cázares, Juan Pablo

2014-07-01

The presence in the brain of α-synuclein containing Lewy neurites, or bodies, is the histological hallmark of Parkinson's disease (PD). The discovery of α-synuclein aggregates in nerve endings of the heart, digestive tract, and skin has lent support to the concept of PD as a systemic disease. Our goals were, first, to demonstrate the presence of α-synuclein inclusions in the skin and, second, to detect quantitative differences between patients with PD and atypical parkinsonism (AP). Skin biopsies were taken from 67 patients and 20 controls. The biopsies underwent immunohistochemistry (IHC) and immunofluorescence (IF) testing for α-synuclein, whereupon its presence was quantified as the percentage of positive cells. Patients were divided into those with PD and those with AP. AP patients included AP with neurodegenerative disease (proteinopathies) and secondary AP. Sixty-seven patients (34 with PD) and 20 controls were recruited. In the PD group, α-synuclein was detected in 58% of the cells in the spinous cell layer (SCL), 62% in the pilosebaceous unit (PSU), and 58% in the eccrine glands (EG). The AP-proteinopathies group showed 7%, 7%, and 0% expression of α-synuclein, respectively. No expression was found in the skin of the control group. The expression of α-synuclein in the skin was relatively high in the PD group, scarce in AP, and null for the individuals in the control group. While these findings require further confirmation, this minimally invasive technique may aid in the improvement of the accuracy of PD diagnoses.

The Frequency of Fabry Disease among Young Cryptogenic Stroke Patients in the City of Sakarya.

Science.gov (United States)

Gündoğdu, Aslı Aksoy; Kotan, Dilcan; Alemdar, Murat

2017-06-01

Fabry disease (FD) is known as a rare cause of stroke. Recent studies suggested that FD is an underdiagnosed entity among young stroke patients. We aimed to investigate the frequency of FD in young cryptogenic stroke patients who lived in the City of Sakarya and to define the clinical features that help in recognizing patients with FD. Acute ischemic stroke patients aged 18-55 years who were admitted to our hospital between October 2013 and September 2016 were evaluated for inclusion. Patients with other recognized causes of stroke were excluded. The screening was performed for alpha-galactosidase A (α-Gal A) activity on dried blood spot, and DNA was sequenced for GLA mutation in patients with low plasma α-Gal A activity. Among the 484 acute ischemic stroke patients, 54 (24 male, 44.4%) young cryptogenic stroke patients were enrolled. The α-Gal A activity was detected as low in 3 patients. c.[680G > A] p.[R227Q] missense mutation was identified in 2 male patients. The frequency of FD was calculated as 3.7%. Our research is the first FD screening study in Turkish stroke patients. Our results underlined the importance of considering FD during the etiologic evaluation of young cryptogenic stroke patients as it is a rare but potentially treatable entity. Copyright © 2017 National Stroke Association. Published by Elsevier Inc. All rights reserved.

Current drug therapies for rosacea: a chronic vascular and inflammatory skin disease.

Science.gov (United States)

Feldman, Steven R; Huang, William W; Huynh, Tu T

2014-06-01

Rosacea is a chronic skin disorder that presents with abnormal vascular and inflammatory conditions. Clinical manifestations include flushing, facial erythema, inflammatory papules and pustules, telangiectasias, edema, and watery or irritated eyes. To discuss the evolving pathophysiology of rosacea, factors involved in promoting the chronic vascular and inflammatory abnormalities seen in rosacea, and the available drug therapies for the condition. Chronic inflammation and vascular changes are believed to be underlying factors in the pathophysiology of rosacea. Aberrant cathelicidin expression, elevated kallikrein 5 (KLK5) proteolytic activity, and altered toll-like receptor 2 (TLR2) expression have been reported in rosacea skin leading to the production of proinflammatory cytokines. Until recently, drug therapies only targeted the inflammatory lesions (papules and pustules) and transient erythema associated with these inflammatory lesions of rosacea. Brimonidine tartrate gel 0.5% was recently approved for the treatment of persistent (nontransient) facial erythema of rosacea, acting primarily on the cutaneous vascular component of the disease. Rosacea is a chronic vascular and inflammatory skin disease. Understanding the role of factors that trigger the onset of rosacea symptoms and exacerbate the condition is crucial in treating this skin disease.

Awareness of Fabry disease in cardiology: A gap to be filled.

Science.gov (United States)

Brito, Dulce; Cardim, Nuno; Lopes, Luís Rocha; Belo, Adriana; Mimoso, Jorge; Gonçalves, Lino; Madeira, Hugo

2018-05-22

In adults, unexplained left ventricular hypertrophy is usually due to sarcomeric hypertrophic cardiomyopathy (HCM). Fabry disease (FD) is rare but may mimic sarcomeric HCM, and has an adverse prognosis in the absence of specific treatment. We aimed to assess cardiologists' awareness of FD based on data from the Portuguese Registry of Hypertrophic Cardiomyopathy. A total of 811 index patients, aged 55 ± 16 years, 486 (59.9%) male, were included. Three groups were characterized: A - 128 patients, 74 (57.8%) male, with pathogenic or likely pathogenic mutation(s) in sarcomeric genes; B - 234 patients, 146 (62.4%) male, with negative genetic testing; and C - 449 patients, 266 (59.2%) male, no genetic testing performed. The groups were compared in terms of whether FD was excluded in the registry. Potential red flags for FD were also analyzed and compared between groups. Patients in group A were younger and more frequently had familial HCM (A - 53.9% vs. B - 20.1% vs. C - 18.3%; p <0.001). FD was recorded as excluded in 217 (26.8%), similar in all groups; GLA gene testing was performed in only 50/217 patients (A - 48.6%, B - 25.7%, p = 0.019; C - 13.4%, p = 0.036 for B vs. C), mostly in women (p <0.001) in groups B and C. Alpha-galactosidase A (α-Gal A) activity was assessed in 39/217 (18%) patients, with no difference between groups, but more often in men (p = 0.005). Among patients with potential red flags for FD, only 46.7% underwent specific tests (GLA gene testing and/or α-Gal A activity). When GLA genotyping was performed no mutations were identified. There is a need to improve cardiologists' alertness for the identification of FD among the Portuguese HCM population. Copyright © 2018 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier España, S.L.U. All rights reserved.

Extrinsic Fabry-Perot ultrasonic detector

Science.gov (United States)

Kidwell, J. J.; Berthold, John W., III

1996-10-01

We characterized the performance of a commercial fiber optic extrinsic Fabry-Perot interferometer for use as an ultrasonic sensor, and compared the performance with a standard lead zirconate titanate (PZT) detector. The interferometer was unstabilized. The results showed that the fiber sensor was about 12 times less sensitive than the PZT detector. Ultrasonic frequency response near 100 kHz was demonstrated. We describe the design of the fiber sensor, the details of the tests performed, and potential applications.

Skin diseases associated with Agent Orange and other organochlorine exposures.

Science.gov (United States)

Patterson, Andrew T; Kaffenberger, Benjamin H; Keller, Richard A; Elston, Dirk M

2016-01-01

Organochlorine exposure is an important cause of cutaneous and systemic toxicity. Exposure has been associated with industrial accidents, intentional poisoning, and the use of defoliants, such as Agent Orange in the Vietnam War. Although long-term health effects are systematically reviewed by the Institute of Medicine, skin diseases are not comprehensively assessed. This represents an important practice gap as patients can present with cutaneous findings. This article provides a systematic review of the cutaneous manifestations of known mass organochlorine exposures in military and industrial settings with the goal of providing clinically useful recommendations for dermatologists seeing patients inquiring about organochlorine effects. Patients with a new diagnosis of chloracne, porphyria cutanea tarda, cutaneous lymphomas (non-Hodgkin lymphoma), and soft-tissue sarcomas including dermatofibrosarcoma protuberans and leiomyosarcomas should be screened for a history of Vietnam service or industrial exposure. Inconclusive evidence exists for an increased risk of other skin diseases in Vietnam veterans exposed to Agent Orange including benign fatty tumors, melanomas, nonmelanoma skin cancers, milia, eczema, dyschromias, disturbance of skin sensation, and rashes not otherwise specified. Affected veterans should be informed of the uncertain data in those cases. Referral to Department of Veterans Affairs for disability assessment is indicated for conditions with established associations. Copyright © 2015 American Academy of Dermatology, Inc. All rights reserved.

Pathologies of the skin and its appendages in endocrine diseases

Directory of Open Access Journals (Sweden)

Hubert Arasiewicz

2016-05-01

Full Text Available Patients suffering from endocrine disorders often present a wide profile of skin lesions. In hyperthyroidism we observe hair loss, lower leg myxedema and onycholysis or, in the case of hormone deficiency, generalized swelling of the skin, which becomes cold and pale. Primary hyperparathyroidism is revealed by pruritus, presence of chronic urticaria or deposition of amorphous calcium salts. In hypoparathyroidism, the skin is dry while the nails become very brittle. Skin lesions in diabetes include necrobiosis lipoidica, granuloma annulare, scleroderma-like diabetic edema and acanthosis nigricans. Overactive pituitary gland is often manifested as acromegaly with hypertrophy of soft tissue thickening and hypertrichosis. The skin in the early stages of hypopituitarism feels swollen, is pale yellow and oily, and finally becomes alabaster and dry. The characteristic features of Cushing syndrome are central obesity, lunar face, buffalo hump, and striae. In Addison’s disease we observe hyperpigmentation. Hyperandrogenism in women leads to acne, hirsutism and virilization.

HLA-DPDQDR is expressed in all lesional skin from patients with autoimmune skin diseases

Directory of Open Access Journals (Sweden)

Ana Maria Abreu Velez

2014-04-01

Full Text Available Introduction: Human genes responsible for human antigen presentation and transplant rejection functions are located on the short arm of Chromosome 6 and are called the Major Histocompatibility Complex (MHC. Moreover, the primary physiologic function of MHC molecules is to present peptides to T lymphocytes. MHC molecules are integral components of the ligands that most T cells recognize, since the T cell receptor (TCR has specificity for complexes of foreign antigenic peptides, as well as self-MHC molecules. Aim: Our investigation attempts to investigate the presence of HLA-DPDQDR within lesional skin biopsies from patients affected by autoimmune skin blistering diseases (ABDs. Materials and Methods: We utilized immunohistochemistry (IHC to evaluate the presence of HLA-DPDQDR in lesional skin biopsies of patients affected by ABDs. We tested 30 patients with endemic pemphigus foliaceus (EPF, 15 controls from the EPF endemic area, and 15 biopsies from healthy controls from the USA. We also tested archival biopsies from patients with selected ABDs, including 30 patients with bullous pemphigoid (BP, 20 with pemphigus vulgaris (PV, 8 with pemphigus foliaceus (PF, 14 with dermatitis herpetiformis (DH and 2 with epidermolysis bullosa acquisita (EBA. Results: Most ABD biopsies stained positive for HLA-DPDQDR in the lesional blisters and/or inflamed neurovascular plexus in the superficial dermis, and also at mesenchymal-endothelial like-cell junctions in the dermis. In BP, EBA and EPF, the HLA-DPDQDR staining was also seen in the dermal eccrine sweat gland coils and and ducts. Conclusion: Here, we document that HLA-DPDQDR is expressed in several anatomic areas of lesional skin in patients with ABDs. Notably, HLA-DPDQDR positivity was also consistently present in areas of the classic immune response in pemphigus epidermal keratinocytic intercellular junctions, and at basement membrane sites in bullous pemphigoid and other subepidermal blistering diseases.

Comprehensive clinical evaluation of a large Spanish family with Anderson-Fabry disease, novel GLA mutation and severe cardiac phenotype.

Science.gov (United States)

San Román-Monserrat, Irene; Moreno-Flores, Victoria; López-Cuenca, David; Rodríguez-González-Herrero, Elena; Guillén-Navarro, Encarna; Rodríguez-González-Herrero, Beatriz; Alegría-Fernández, Marisol; Poza-Cisneros, Gabriela; Piñero-Fernández, Juan A; Sornichero-Martínez, Javier; Gimeno-Blanes, Juan R

2014-06-06

Fabry disease is an X-linked multisystemic lysosomal-storage condition. We describe a large family with a novel GLA mutation: p.M187R/g7219 T>G. Anamnesis/physical-exam, blood/urine analysis, α-Gal-A activity and/or genetic study of at-risk individuals and multidisciplinary evaluation in confirmed cases. 4 males and 13 heterozygous-females displayed the mutation. Cardiac/renal/neurological disease was diagnosed at a mean age of 41/29/39 years in males and 51/56/46 years in females. Onset mean age was 20 years versus 42 years. 9/15 had cardiomyopathy. Delta wave suggestive of accessory pathway was identified in 1 male and 2 females. 1 female had cardiac arrest (ventricular fibrillation, 61 years). 2 females and 1 male died suddenly (63, 64 and 57 years). Cardiac-subscore of Mainz Severity-Score-Index was severe for males and females over 40 years. 4/15(26%) developed early renal disease. 2 males needed dialysis. 1 male died at 69 years in spite of kidney-heart transplant. We describe the largest genetically confirmed Spanish family using multidisciplinary evaluation and MSSI calculation. The novel mutation p.M187R/g7219 T>G is associated with a particularly malignant cardiac phenotype in males and females over 40 years. Severity was higher than that of the largest Spanish FOS-cohort. Short-PR with delta is being reported for the first time. Copyright © 2013 Elsevier España, S.L. All rights reserved.

Hyperthermia on skin immune system and its application in the treatment of HPV-infected skin diseases

Institute of Scientific and Technical Information of China (English)

Gao Xinghua; Chen Hongduo

2014-01-01

In this paper, the effects of hyperthermia on cells and immune system are introduced briefly. The mechanism of action of hyperthermia on human papilloma virus （HPV）-infected skin diseases was elaborated as an example in this paper. Many studies have proved that hyperthermia affects a number of cellular and molecu- lar constitutes in the skin immune system, involving both innate and adaptive immune responses; the efficacy of hyperthermia in treating some infectious and cancerous conditions has been validated and applied in clinics, while molecular mechanisms of hyperthermia affecting the immunereaction is still unclear.

Association of disease severity with skin microbiome and filaggrin gene mutations in adult atopic dermatitis

DEFF Research Database (Denmark)

Clausen, Maja Lisa; Agner, Tove; Lilje, Berit

2018-01-01

IMPORTANCE Skin microbiome correlates with disease severity for lesional and nonlesional skin, indicating a global influence of atopic dermatitis (AD). A relation between skin microbiome and filaggrin gene (FLG) mutations proposes a possible association between skin microbiome and host genetics....... OBJECTIVES To assess skin and nasal microbiome diversity and composition in patients with AD and compare with healthy controls, and to investigate the microbiome in relation to disease severity and FLG mutations in patients with AD. DESIGN, SETTING, AND PARTICIPANTS An observational case-control study of 45...... analyses of the microbiome were analyzed using R statistical software (version 3.3.1, R Foundation Inc). MAIN OUTCOMES AND MEASURES Skin microbiomeswere investigated using next-generation sequencing targeting 16S ribosomal RNA. RESULTS Microbiome alpha diversity was lower in patients with AD compared...

Left Ventricular Geometry and Blood Pressure as Predictors of Adverse Progression of Fabry Cardiomyopathy.

Science.gov (United States)

Krämer, Johannes; Bijnens, Bart; Störk, Stefan; Ritter, Christian O; Liu, Dan; Ertl, Georg; Wanner, Christoph; Weidemann, Frank

2015-01-01

In spite of several research studies help to describe the heart in Fabry disease (FD), the cardiomyopathy is not entirely understood. In addition, the impact of blood pressure and alterations in geometry have not been systematically evaluated. In 74 FD patients (mean age 36±12 years; 45 females) the extent of myocardial fibrosis and its progression were quantified using cardiac magnetic-resonance-imaging with late enhancement technique (LE). Results were compared to standard echocardiography complemented by 2D-speckle-tracking, 3D-sphericity-index (SI) and standardized blood pressure measurement. At baseline, no patient received enzyme replacement therapy (ERT). After 51±24 months, a follow-up examination was performed. Systolic blood pressure (SBP) was higher in patients with vs. without LE: 123±17 mmHg vs. 115±13 mmHg; P = 0.04. A positive correlation was found between SI and the amount of LE-positive myocardium (r = 0.51; PAUC = 0.785; P<0.05). LV geometry as assessed by the sphericity index is altered in relation to the stage of the Fabry cardiomyopathy. Although patients with FD are not hypertensive, the SBP has a clear impact on the progression of the cardiomyopathy.

Detection of lumpy skin disease virus in skin lesions, blood, nasal swabs and milk following preventive vaccination.

Science.gov (United States)

Bedeković, T; Šimić, I; Krešić, N; Lojkić, I

2018-04-01

Lumpy skin disease caused by Capripoxvirus is at the moment the most important threat to European cattle industry. The only way for successful control of disease is fast and efficient diagnosis and vaccination. According to EU legislation, vaccination against LDS can be conducted only after confirmation of the disease. Croatia has a special position regarding LSD-in 2016, for the first-time vaccination of the entire cattle population was conducted without an index case. The presence of vaccine viral particles was detected in milk, skin nodules, blood and nasal swabs in seven from total of eight herds. The presence of virus genome was detected in five cows from 10 up to 21-day post-vaccination. The virus was successfully isolated on cell culture from 10 up to 21-day post-vaccination from three animals. The obtained results support the need for further efforts to develop safer vaccines against LSDV. © 2017 Blackwell Verlag GmbH.

Breast disease with skin thickening: differential diagnosis with mammography and ultrasonography

Energy Technology Data Exchange (ETDEWEB)

Shin, Young Rok; Kim, Hak Hee; Cha, Eun Suk; Park, Hye Seong; Kim, Ki Tae; Shinn, Kyung Sub [The Catholic University of Korea College of Medicine, Seoul (Korea, Republic of)

1999-02-01

Diffuse skin thickening of the breast is produced by lymphedema usually secondary to obstruction of the axillary lymphatics. On physical examination, the affected breast is, due to increased fluid content, larger, heavier, and of higher overall density. Mammography reveals an increased coarse reticular pattern. Thickening of the skin can have many causes. It may be a result of tumor invasion or a tumor in the dermal lymphatics ; or because of lymphatic congestion through obstruction of lymphatic drainage within the breast, in the axilla, or centrally in the mediastinum. Further causes may be congestive heart failure, benign inflammation, primary skin processes such as psoriasis, or systemic diseases which involve the skin. Mammographic appearance is known to be nonspecific. Ultrasound can demonstrate skin thickening directly, but despite some reports suggesting that the cause of skin thickening can be inferred from the results of ultrasound, this is not usually of practical importance. The purpose of this study is to review the causes of skin thickening of the breast and to use mammography and US to differentiate the causes.

Ventricular arrhythmia and sudden cardiac death in Fabry disease: a systematic review of risk factors in clinical practice.

Science.gov (United States)

Baig, Shanat; Edward, Nicky C; Kotecha, Dipak; Liu, Boyang; Nordin, Sabrina; Kozor, Rebecca; Moon, James C; Geberhiwot, Tarekegn; Steeds, Richard P

2017-10-17

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by deficiency of α-galactosidase A enzyme. Cardiovascular (CV) disease is a common cause of mortality in FD, in particular as a result of heart failure and arrhythmia, with a significant proportion of events categorized as sudden. There are no clear models for risk prediction in FD. This systematic review aims to identify the risk factors for ventricular arrhythmia (VA) and sudden cardiac deaths (SCD) in FD. A systematic search was performed following PRISMA guidelines of EMBASE, Medline, PubMed, Web of Science, and Cochrane from inception to August 2016, focusing on identification of risk factors for the development of VA or SCD. Thirteen studies were included in the review (n = 4185 patients) from 1189 articles, with follow-up of 1.2-10 years. Weighted average age was 37.6 years, and 50% were male. Death from any cause was reported in 8.3%. Of these, 75% was due to CV problems, with the majority being SCD events (62% of reported deaths). Ventricular tachycardia was reported in 7 studies, with an average prevalence of 15.3%. Risk factors associated with SCD events were age, male gender, left ventricular hypertrophy, late gadolinium enhancement on CV magnetic resonance imaging, and non-sustained ventricular tachycardia. Although a multi-system disease, FD is a predominantly cardiac disease from a mortality perspective, with death mainly from SCD events. Limited evidence highlights the importance of clinical and imaging risk factors that could contribute to improved decision-making in the management of FD. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2017. For Permissions, please email: journals.permissions@oup.com.

THE FREQUENT SKIN DISEASES DIAGNOSED AT UNIVERSITY STUDENTS

Directory of Open Access Journals (Sweden)

Yesim KAYMAK

2005-12-01

Full Text Available The incidence of some skin diseases are increasing at adolescent and early adulthood period. The most frequent disease at this period is acne vulgaris whereas fungal diseases, dermatitis, dermatosis which are due to stress and other reasons, oral mucosal lesions and herpetic lesions of perioral region are also frequent. In this research we aim to determine the frequent dermatologic diseases of university students and 147 female, 74 male, a total of 221 students are included. We questioned the dermatologic complaints of students, then examined dermatologically in detail and registered ages, sexes, findings of the dermatological examination and dermatological diagnostic informations. As a result it is found out that the most frequent diseases are acne vulgaris (34.1%, allergic and pruritic dermatosis (16.6%, fungal diseases ( 13.0%, and eritamatous-squamous disease (8.3%. [TAF Prev Med Bull 2005; 4(6.000: 313-320

Revertant Mosaicism in Heritable Skin Diseases - Mechanisms of Natural Gene Therapy

NARCIS (Netherlands)

Pasmooij, Anna M. G.; Jonkman, Marcel F.; Uitto, Jouni

Revertant mosaicism (RM) refers to the co-existence of cells carrying disease-causing mutations with cells in which the inherited mutation is genetically corrected by a spontaneous event. It has been discovered in an increasing number of heritable skin diseases: ichthyosis with confetti and

Genetic deletion of amphiregulin restores the normal skin phenotype in a mouse model of the human skin disease tylosis

Directory of Open Access Journals (Sweden)

Vishnu Hosur

2017-08-01

Full Text Available In humans, gain-of-function (GOF mutations in RHBDF2 cause the skin disease tylosis. We generated a mouse model of human tylosis and show that GOF mutations in RHBDF2 cause tylosis by enhancing the amount of amphiregulin (AREG secretion. Furthermore, we show that genetic disruption of AREG ameliorates skin pathology in mice carrying the human tylosis disease mutation. Collectively, our data suggest that RHBDF2 plays a critical role in regulating EGFR signaling and its downstream events, including development of tylosis, by facilitating enhanced secretion of AREG. Thus, targeting AREG could have therapeutic benefit in the treatment of tylosis.

Skin complications in deep brain stimulation for Parkinson's disease: frequency, time course, and risk factors.

Science.gov (United States)

Sixel-Döring, Friederike; Trenkwalder, Claudia; Kappus, Christoph; Hellwig, Dieter

2010-02-01

Deep brain stimulation (DBS) has been recognized as an efficacious treatment for movement disorders. Its beneficial effects however may be lost due to skin complications such as erosions or infections over the implanted foreign material. We sought to document skin complications in the entire Parkinson's disease patient population who received a DBS system at the Marburg/Kassel implantation centre since the start of our DBS program in January 2002 to analyze frequency, time course, and possible risk factors. We investigated 85 consecutive patients with Parkinson's disease (PD) from a single center/single surgeon DBS series for the occurrence of skin complications and analyzed localization, time course, and possible risk factors. Mean follow-up was 3 years (range 1-7 years). In total, 21/85 patients (24.7%) suffered a total of 30 single skin complications. Sixty percent of all incidents occurred within the first post-operative year. Forty percent of all incidents occurred later than the first year following primary implantation. Complications involved the burr hole cap in 37%, the course of the cables in 33%, and the impulse generator (IPG) site in 30%. Six of 21 patients suffered recurring skin complications. Eight patients permanently lost their DBS system. Factor analysis for age, gender, disease duration, disease severity, the incidence of hypertension or diabetes as well as a 2-day period with externalized electrodes for continuous test stimulation did not have any statistically significant impact on skin complications. We conclude that (1) PD patients have a risk for skin complications after DBS as long as the system remains in situ and (2) there are at present no identifiable risk factors for skin complications after DBS, other than PD itself.

Quality of life and female sexual function after skinning vulvectomy with split-thickness skin graft in women with vulvar intraepithelial neoplasia or vulvar Paget disease.

Science.gov (United States)

Lavoué, V; Lemarrec, A; Bertheuil, N; Henno, S; Mesbah, H; Watier, E; Levêque, J; Morcel, K

2013-12-01

Vulvar intraepithelial neoplasia (VIN) and vulvar Paget disease are managed with either vulvectomy, destructive treatments (laser, antimitotic drugs) or immunostimulants. All these options are associated with functional complications. The purpose of this study was to evaluate the surgical technique consisting of skinning vulvectomy with split-thickness skin graft, and its effect on overall quality of life and sexual function. A retrospective study was conducted on thirteen patients who underwent skinning vulvectomy with split-thickness skin graft between 1999 and 2009. Overall quality of life and sexual function were assessed with the Medical Outcome Study Short Form 36 (MOS SF-36) and Female Sexual Function Index (FSFI), respectively. The median age of patients was 54 (range: 33-77) years. Three patients had Paget disease and 10 patients had VIN lesions. The excision margins were clear in 46% of cases. The incidence of occult cancer was 31%. The mean follow-up period was 77 (±35) months. Four patients experienced a relapse of their intraepithelial disease. The mean disease-free survival was 58 (±44) months. There was no significant difference in MOS SF-36 scores between the study population and the general population. The patients assessed with the FSFI regained normal sexual function after the surgical procedure. Skinning vulvectomy with split-thickness skin graft is a feasible technique yielding good results in terms of quality of life and sexual function. It enables occult cancer to be diagnosed in patients with VIN or Paget disease. Copyright © 2013 Elsevier Ltd. All rights reserved.

A programme of research to set priorities and reduce uncertainties for the prevention and treatment of skin disease

OpenAIRE

Thomas, K. S.; Batchelor, J. M.; Bath-Hextall, F.; Chalmers, J. R.; Clarke, T.; Crowe, S.; Delamere, F. M.; Eleftheriadou, V.; Evans, N.; Firkins, L.; Greenlaw, N.; Lansbury, L.; Lawton, S.; Layfield, C.; Leonardi-Bee, J.

2016-01-01

BACKGROUND: Skin diseases are very common and can have a large impact on the quality of life of patients and caregivers. This programme addressed four diseases: (1) eczema, (2) vitiligo, (3) squamous cell skin cancer (SCC) and (4) pyoderma gangrenosum (PG). OBJECTIVE: To set priorities and reduce uncertainties for the treatment and prevention of skin disease in our four chosen diseases. DESIGN: Mixed methods including eight systematic reviews, three prioritisation exercises, tw...

Extramammary Paget disease: review of patients seen in a non-melanoma skin cancer clinic.

Science.gov (United States)

Pang, J; Assaad, D; Breen, D; Fialkov, J; Antonyshyn, O; Balogh, J; Tsao, M; Kamra, J; Czarnota, G; Barnes, E A

2010-10-01

Extramammary Paget disease (EMPD) is a rare skin disease commonly found in the anogenital region. In this study, we aimed to identify EMPD patients seen in the non-melanoma skin cancer clinic at Odette Cancer Centre and to describe the treatments delivered and outcomes achieved. From 2000 to 2009, 14 patients were seen. Initial treatment recommendations included imiquimod and surgical excision, although half the patients required more than one treatment modality, highlighting the difficulty of achieving complete eradication of this disease.

Bovine lumpy skin disease: epidemiology, economic impact and control opportunities in Ethiopia

NARCIS (Netherlands)

Abebe, Wassie Molla

2018-01-01

Lumpy skin disease (LSD) is a serious pox disease of cattle caused by LSD virus of the genus Capripoxvirus, subfamily Chordopoxvirinae and family Poxviridae. It is economically an important disease due to its effect on productivity, fertility, animal survival, hide

Ultrasonography of Skin Changes in Legs with Chronic Venous Disease.

Science.gov (United States)

Caggiati, A

2016-10-01

In daily practice, ultrasonography (US) is used only to designate the location and pattern of venous lesions. Skin US is not performed between routine venous investigations. Skin morphology is evaluated by the same probes used for routine Duplex evaluation of superficial veins. US findings from evident skin lesions are comparatively evaluated with those from the surrounding apparently normal skin and from the contralateral leg. Inflammation and dermal edema can be found in the apparently normal skin of C2 legs. Swollen legs show thickening of the subcutaneous layer as a result of diffuse soaking or anechoic cavities, with or without dermal edema. Chronic hypodermitis is characterized by inflammatory edema in initial phases, and by liposclerosis in advanced cases. Recrudescence of inflammation provokes focal rarefactions of the subcutaneous layer, possibly related to ulcer opening. In legs with venous disorders, sonography refines clinical evaluation of the skin and may reveal changes not highlighted by inspection. Some of these changes could require further investigation because they have not yet been explained or described. Skin sonography should improve knowledge of the natural history of skin changes, as well as contribute to a better grading of venous diseases severity In particular, US evidence of cutaneous and subcutaneous changes in C2 legs should be considered to stratify the treatment in C2 legs, by identifying those in which varicose veins are not simply a cosmetic problem. Copyright © 2016 European Society for Vascular Surgery. Published by Elsevier Ltd. All rights reserved.

Cutaneous Hypersensitivity Dermatoses in the Feline Patient: A Review of Allergic Skin Disease in Cats

OpenAIRE

Alison Diesel

2017-01-01

Feline allergic skin disease presents a unique set of challenges to the veterinary practitioner. Although there is some similarity to what is seen in the allergic canine patient, cutaneous hypersensitivity dermatoses in cats can manifest with strikingly different clinical signs, treatment options and outcomes, and secondary complications/disease entities. Additionally, less is known about the pathogenesis of feline allergic skin diseases, particularly “feline atopic syndrome” when compared to...

Balneotheraphy of skin diseases; Hifubyo no onsen ryoho

Energy Technology Data Exchange (ETDEWEB)

Noguchi, J. [Dermatology Department of Ueda Hospital in Morioka, Iwate (Japan)

1997-12-30

In a patient receiving balneotherapy, iching is reduced into a throbbing pain by bathing in very hot water or in a tonic spring. Dermatitis caused by bathing in an acid spring is a typical case. A scab may be built after bathing in an acid sulfur spring, but it protects the skin from scratching that is an undesirable conditioned reflex. In the treatment of skin diseases, although steps are taken in many cases to control inflammation, yet it is accepted that damaged skin does not heal without inflammation. In balneotherapy, inflammation suppressing actions are seldom taken, but inflammation is positively made use of in some cases and is caused to be aggravated. In a patient being treated by bathing in an acid sulfur spring, inflammation is enhanced and the patient appears to be taking a turn for the worse. This is known as `extracting of poison` in the hot spring cure terminology. With this apparent worsening, anthemata are in most cases cured more effectively than without. Also, inflammation is an indispensable reaction of countering microbial infection

TAURUS - a wide field imaging Fabry-Perot spectrometer

International Nuclear Information System (INIS)

Atherton, P.D.; Taylor, K.

1983-01-01

TAURUS, an imaging Fabry-Perot system developed by the Royal Greenwich Observatory and Imperial College London, is described. The imaging process is explained and the technique is compared with grating spectrographs. It is argued that TAURUS is superior for obtaining field information from extended emission line sources. (Auth.)

Preventing Occupational Skin Disease: A Review of Training Programs.

Science.gov (United States)

Zack, Bethany; Arrandale, Victoria H; Holness, D Linn

Occupational contact dermatitis (OCD) is a common occupational disease that impacts a variety of worker groups. Skin protection and disease prevention training programs have shown promise for improving prevention practices and reducing the incidence of OCD. This review details the features of training programs for primary prevention of OCD and identifies gaps in the literature. Twelve studies were identified for in-depth review: many studies included wet workers employed in health care, hairdressing, cleaning, and food preparation; 1 program featured manufacturing workers. Few programs provided content on allergic contact dermatitis, and only 1 was evaluated for long-term effectiveness. Effective programs were similar in content, delivery method, and timing and were characterized by industry specificity, multimodal learning, participatory elements, skin care resource provision, repeated sessions, and management engagement. Long-term effectiveness, generalizability beyond OCD, workplace health and safety culture impact, and translation of programs in the North American context represent areas for future research.

An Ultrasound Surface Wave Technique for Assessing Skin and Lung Diseases.

Science.gov (United States)

Zhang, Xiaoming; Zhou, Boran; Kalra, Sanjay; Bartholmai, Brian; Greenleaf, James; Osborn, Thomas

2018-02-01

Systemic sclerosis (SSc) is a multi-organ connective tissue disease characterized by immune dysregulation and organ fibrosis. Severe organ involvement, especially of the skin and lung, is the cause of morbidity and mortality in SSc. Interstitial lung disease (ILD) includes multiple lung disorders in which the lung tissue is fibrotic and stiffened. The purpose of this study was to translate ultrasound surface wave elastography (USWE) for assessing patients with SSc and/or ILD via measuring surface wave speeds of both skin and superficial lung tissue. Forty-one patients with both SSc and ILD and 30 healthy patients were enrolled in this study. An external harmonic vibration was used to generate the wave propagation on the skin or lung. Three excitation frequencies of 100, 150 and 200 Hz were used. An ultrasound probe was used to measure the wave propagation in the tissue non-invasively. Surface wave speeds were measured on the forearm and upper arm of both left and right arm, as well as the upper and lower lungs, through six intercostal spaces of patients and healthy patients. Viscoelasticity of the skin was calculated by the wave speed dispersion with frequency using the Voigt model. The magnitudes of surface wave speed and viscoelasticity of patients' skin were significantly higher than those of healthy patients (p wave speeds of patients' lung were significantly higher than those of healthy patients (p ionizing technique for measuring both skin and lung surface wave speed and may be useful for quantitative assessment of SSc and/or ILD. Copyright © 2018 World Federation for Ultrasound in Medicine and Biology. Published by Elsevier Inc. All rights reserved.

Friends or Foes? Host defense (antimicrobial) peptides and proteins in human skin diseases.

Science.gov (United States)

Niyonsaba, François; Kiatsurayanon, Chanisa; Chieosilapatham, Panjit; Ogawa, Hideoki

2017-11-01

Host defense peptides/proteins (HDPs), also known as antimicrobial peptides/proteins (AMPs), are key molecules in the cutaneous innate immune system. AMPs/HDPs historically exhibit broad-spectrum killing activity against bacteria, enveloped viruses, fungi and several parasites. Recently, AMPs/HDPs were shown to have important biological functions, including inducing cell proliferation, migration and differentiation; regulating inflammatory responses; controlling the production of various cytokines/chemokines; promoting wound healing; and improving skin barrier function. Despite the fact that AMPs/HDPs protect our body, several studies have hypothesized that these molecules actively contribute to the pathogenesis of various skin diseases. For example, AMPs/HDPs play crucial roles in the pathological processes of psoriasis, atopic dermatitis, rosacea, acne vulgaris, systemic lupus erythematosus and systemic sclerosis. Thus, AMPs/HDPs may be a double-edged sword, promoting cutaneous immunity while simultaneously initiating the pathogenesis of some skin disorders. This review will describe the most common skin-derived AMPs/HDPs (defensins, cathelicidins, S100 proteins, ribonucleases and dermcidin) and discuss the biology and both the positive and negative aspects of these AMPs/HDPs in skin inflammatory/infectious diseases. Understanding the regulation, functions and mechanisms of AMPs/HDPs may offer new therapeutic opportunities in the treatment of various skin disorders. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Prevalence of Skin Diseases in Nigerian Children: - (The University ...

African Journals Online (AJOL)

Background: Skin diseases are frequently encountered in the tropics and are a serious cause of morbidity, disfigurement and distress in all age groups. The aim of this study is to determine prevalence and common dermatological conditions encountered in UPTH. Methods: Children aged 0-16 years attending the ...

Ambient humidity and the skin: the impact of air humidity in healthy and diseased states.

Science.gov (United States)

Goad, N; Gawkrodger, D J

2016-08-01

Humidity, along with other climatic factors such as temperature and ultraviolet radiation, can have an important impact on the skin. Limited data suggest that external humidity influences the water content of the stratum corneum. An online literature search was conducted through Pub-Med using combinations of the following keywords: skin, skin disease, humidity, dermatoses, dermatitis, eczema, and mist. Publications included in this review were limited to (i) studies in humans or animals, (ii) publications showing relevance to the field of dermatology, (iii) studies published in English and (iv) publications discussing humidity as an independent influence on skin function. Studies examining environmental factors as composite influences on skin health are only included where the impact of humidity on the skin is also explored in isolation of other environmental factors. A formal systematic review was not feasible for this topic due to the heterogeneity of the available research. Epidemiological studies indicated an increase in eczema with low internal (indoors) humidity and an increase in eczema with external high humidity. Other studies suggest that symptoms of dry skin appear with low humidity internal air-conditioned environments. Murine studies determined that low humidity caused a number of changes in the skin, including the impairment of the desquamation process. Studies in humans demonstrated a reduction in transepidermal water loss (TEWL) (a measure of the integrity of the skin's barrier function) with low humidity, alterations in the water content in the stratum corneum, decreased skin elasticity and increased roughness. Intervention with a humidifying mist increased the water content of the stratum corneum. Conversely, there is some evidence that low humidity conditions can actually improve the barrier function of the skin. Ambient relative humidity has an impact on a range of parameters involved in skin health but the literature is inconclusive. Further

Suppression of skin inflammation in keratinocytes and acute/chronic disease models by caffeic acid phenethyl ester.

Science.gov (United States)

Lim, Kyung-Min; Bae, SeungJin; Koo, Jung Eun; Kim, Eun-Sun; Bae, Ok-Nam; Lee, Joo Young

2015-04-01

Skin inflammation plays a central role in the pathophysiology and symptoms of diverse chronic skin diseases including atopic dermatitis (AD). In this study, we examined if caffeic acid phenethyl ester (CAPE), a skin-permeable bioactive compound from propolis, was protective against skin inflammation using in vitro cell system and in vivo animal disease models. CAPE suppressed TNF-α-induced NF-κB activation and expression of inflammatory cytokines in human keratinocytes (HaCaT). The potency and efficacy of CAPE were superior to those of a non-phenethyl derivative, caffeic acid. Consistently, topical treatment of CAPE (0.5 %) attenuated 12-O-tetradecanoylphorbol-13-acetate(TPA)-induced skin inflammation on mouse ear as CAPE reduced ear swelling and histologic inflammation scores. CAPE suppressed increased expression of pro-inflammatory molecules such as TNF-α, cyclooxygenase-2 and inducible NO synthase in TPA-stimulated skin. TPA-induced phosphorylation of IκB and ERK was blocked by CAPE suggesting that protective effects of CAPE on skin inflammation is attributed to inhibition of NF-κB activation. Most importantly, in an oxazolone-induced chronic dermatitis model, topical application of CAPE (0.5 and 1 %) was effective in alleviating AD-like symptoms such as increases of trans-epidermal water loss, skin thickening and serum IgE as well as histologic inflammation assessment. Collectively, our results propose CAPE as a promising candidate for a novel topical drug for skin inflammatory diseases.

The nature and consequence of Karl Marx's skin disease.

Science.gov (United States)

Shuster, S

2008-01-01

From an analysis of the original correspondence, it has been possible to establish that Karl Marx's incapacitating skin disease was hidradenitis suppurativa, not 'boils' as was universally assumed at the time and since; the psychological effect of this illness on the man and his work appears to have been considerable.

Skin ulcers related to chronic graft-versus-host disease: clinical findings and associated morbidity.

Science.gov (United States)

Jachiet, M; de Masson, A; Peffault de Latour, R; Rybojad, M; Robin, M; Bourhis, J-H; Xhaard, A; Dhedin, N; Sicre de Fontbrune, F; Suarez, F; Barete, S; Parquet, N; Nguyen, S; Ades, L; Rubio, M-T; Wittnebel, S; Bagot, M; Socié, G; Bouaziz, J-D

2014-07-01

According to the National Institutes of Health classification of chronic graft-versus-host disease (cGVHD), skin ulcers after allogeneic haematopoietic stem-cell transplantation (HSCT) are recorded as having the maximal severity score but published data are scarce. To describe skin ulcers related to cGVHD with an emphasis on clinical findings, associated morbidity, management and evolution. A multicentre retrospective analysis was carried out of patients with a diagnosis of cGVHD skin ulcers. All 25 patients included in the study had sclerotic skin cGVHD and 21 had lichenoid skin lesions associated with the sclerotic skin lesions. Thirteen patients had severe cGVHD without considering the skin, because of the involvement of an extracutaneous organ by cGVHD. The median time from HSCT to the onset of ulcers was 44 months. In addition to scleroderma, initial skin lesions at the site of ulcers were bullous erosive lichen in 21 patients and bullous erosive morphoea in four patients. Fifteen patients had an inaugural oedema. Ulcers were mostly bilateral with a predilection for the lower limbs. They were frequently colonized but few infections occurred. Four patients died during a median follow-up period of 55 months. Chronic graft-versus-host disease skin ulcers occur in patients with sclerodermatous skin cGVHD, are associated with severe cGVHD, often start with bullous lichenoid lesions or bullous morphoea and seem to cause more morbidity than mortality, given the low rate of mortality observed in our series of patients. © 2014 British Association of Dermatologists.

The skin microbiota: composition and function in health and disease

DEFF Research Database (Denmark)

Brüggemann, Holger

2016-01-01

protective function or its immunomodulatory properties. The skin microbiota of the face and upper back is dominated by species of the genera Staphylococcus and Propionibacterium. In particular, the species Propionibacterium acnes (P. acnes) predominately colonizes sebaceous areas. This species has several...... conflicting properties, some of which are mutualistic with potential beneficial effects for skin health while others are potentially harmful for the host, such as P. acnes’ pro-inflammatory activity. Analysis of the population structure of P. acnes highlighted its multiphyletic composition; together...... with comparative genomics data that revealed phylotype-specific differences, the hypothesis arose that certain lineages of P. acnes are health-beneficial while others are drivers of disease. This talk will introduce properties and host-interacting activities of P. acnes and other skin microbes. The talk...

Relationship between biochemical factors and skin symptoms in chronic venous disease.

Science.gov (United States)

Takai, Yasushi; Hiramoto, Keiichi; Nishimura, Yoshiyuki; Ooi, Kazuya

2017-05-01

Chronic venous disease (CVD) is a common venous disease of the lower extremities and patients often develop symptoms of itching and skin roughness. An easy to use and objective skin examination was recently developed that allows measurement of the level of stratum corneum content and transepidermal water loss (TEWL), which can indicate the status of the barrier function of the stratum corneum. Previous studies demonstrated that histamine production from mast cells, and tryptase and matrix metalloprotease-9 levels were associated with skin inflammation. This study aimed to clarify the relationship between dry skin and inflammatory mediators that mediate the skin symptoms of CVD subjects. The study enrolled 27 subjects with CVD and a control group consisting of 9 volunteers. The itching onset frequency was higher in women (70.4%) compared with men (50.0%). To analyze the mechanisms involved in itching we measured blood inflammatory mediators pre- and post-sclerotherapy. There was a significant decrease in Substance P, histamine, IgE, and tryptase levels post-sclerotherapy compared with those at pre-sclerotherapy. These levels were associated with the severity of itching. In addition, compared with the control subjects, there was a significant increase in the stratum corneum water content and a decrease in the TEWL in the 27 patients with CVD. This was associated with a decrease in the itching symptoms. Our findings indicate that sclerotherapy decreased levels of inflammatory mediators, increased stratum corneum water content and decreased TEWL, which coincided with reduced itching in CVD patients, indicating they might be therapeutic targets.

The pattern of skin diseases in the Qassim region of Saudi Arabia: What the primary care physician should know

International Nuclear Information System (INIS)

Hani A Al Shobaili

2010-01-01

Epidemiological studies to determine the burden of skin diseases are important for proper health care planning. The purpose of this study was to find the pattern of skin diseases in our patients attending university-affiliated dermatologic clinics in the Qassim region.We conducted a prospective study of all Saudi patients attending the Qassim University Medical College-affiliated dermatology clinics of the Ministry of Health for a period of 12 months from 1 March 2008 to 28 February 2009.The study included 3051 patients comprising 1786 (58.5%) males and 1265 (41.5%) females. Males outnumbered females (P<.05) (male-to-female ratio, 1.4:1). The mean age (standard error of the mean) of the patients was 25.3 (0.27) years. About 71% of the patients were between 5 and 34 years of age. The top five skin diseases were eczema/ dermatitis (19.5%), viral infections (16.6%), pilosebaceous disorders (14.4%), pigmentary lesions (11.2%) and hair disorders (7.6%). The major disorder in males was viral skin infections (20.0%), while eczema/dermatitis (20.7%) constituted the most prevalent skin disease in females. Seasonal variations were recorded in cases of pigmentary lesions, papulosquamous disorders and protozoal infections.Infectious skin diseases, eczema/dermatitis, pilosebaceous disorders, pigmentary lesions and hair disorders ranked as the top five skin diseases. Appropriate training programs for diagnosing and managing common skin diseases should be initiated for primary health care physicians and other general practitioners so as to decrease referrals to dermatology clinics (Author).

Epidemiology of skin diseases in university of Nigeria Teaching ...

African Journals Online (AJOL)

Background: Several studies have been carried out to determine the patterns of skin diseases across Nigeria and results have shown changing patterns with the trend reflecting a higher tendency for allergic dermatoses in a majority of these studies. This study was carried out to evaluate the current clinical picture of patients ...

Conductance oscillation in graphene-nanoribbon-based electronic Fabry-Perot resonators

International Nuclear Information System (INIS)

Zhang Yong; Han Mei; Shen Linjiang

2010-01-01

By using the tight-binding approximation and the Green's function method, the quantum conductance of the Fabry-Perot-like electronic resonators composed of zigzag and metallic armchair edge graphene nanoribbons (GNRs) was studied numerically. Obtained results show that due to Fabry-Perot-like electronic interference, the conductance of the GNR resonators oscillates periodically with the Fermi energy. The effects of disorders and coupling between the electrodes and the GNR on conductance oscillations were explored. It is found that the conductance oscillations appear at the strong coupling and become resonant peaks as the coupling is very weak. It is also found that the strong disorders in the GNR can smear the conductance oscillation periods. In other words, the weak coupling and the strong disorders all can blur the conductance oscillations, making them unclearly distinguished.

Stable CW Single-Frequency Operation of Fabry-Perot Laser Diodes by Self-Injection Phase Locking

Science.gov (United States)

Duerksen, Gary L.; Krainak, Michael A.

1999-01-01

Previously, single-frequency semiconductor laser operation using fiber Bragg gratings has been achieved by two methods: 1) use of the FBG as the output coupler for an anti-reflection-coated semiconductor gain element'; 2) pulsed operation of a gain-switched Fabry-Perot laser diode with FBG-optical and RF-electrical feedback. Here, we demonstrate CW single frequency operation from a non-AR coated Fabry-Perot laser diode using only FBG optical feedback. We coupled a nominal 935 run-wavelength Fabry-Perot laser diode to an ultra narrow band (18 pm) FBG. When tuned by varying its temperature, the laser wavelength is pulled toward the centerline of the Bragg grating, and the spectrum of the laser output is seen to fall into three discrete stability regimes as measured by the side-mode suppression ratio.

Skin Biopsy

Science.gov (United States)

... Development Infections Diseases & Conditions Pregnancy & Baby Nutrition & Fitness Emotions & Behavior School & Family Life First Aid & Safety Doctors & ... like these: skin rashes or conditions, such as eczema or psoriasis skin infections, such as staph diseases, ...

All-optical logic gates and wavelength conversion via the injection locking of a Fabry-Perot semiconductor laser

Science.gov (United States)

Harvey, E.; Pochet, M.; Schmidt, J.; Locke, T.; Naderi, N.; Usechak, N. G.

2013-03-01

This work investigates the implementation of all-optical logic gates based on optical injection locking (OIL). All-optical inverting, NOR, and NAND gates are experimentally demonstrated using two distributed feedback (DFB) lasers, a multi-mode Fabry-Perot laser diode, and an optical band-pass filter. The DFB lasers are externally modulated to represent logic inputs into the cavity of the multi-mode Fabry-Perot slave laser. The input DFB (master) lasers' wavelengths are aligned with the longitudinal modes of the Fabry-Perot slave laser and their optical power is used to modulate the injection conditions in the Fabry-Perot slave laser. The optical band-pass filter is used to select a Fabry- Perot mode that is either suppressed or transmitted given the logic state of the injecting master laser signals. When the input signal(s) is (are) in the on state, injection locking, and thus the suppression of the non-injected Fabry-Perot modes, is induced, yielding a dynamic system that can be used to implement photonic logic functions. Additionally, all-optical photonic processing is achieved using the cavity-mode shift produced in the injected slave laser under external optical injection. The inverting logic case can also be used as a wavelength converter — a key component in advanced wavelength-division multiplexing networks. As a result of this experimental investigation, a more comprehensive understanding of the locking parameters involved in injecting multiple lasers into a multi-mode cavity and the logic transition time is achieved. The performance of optical logic computations and wavelength conversion has the potential for ultrafast operation, limited primarily by the photon decay rate in the slave laser.

Characterization of inflammatory cell infiltration in feline allergic skin disease.

Science.gov (United States)

Taglinger, K; Day, M J; Foster, A P

2007-11-01

Sixteen cats with allergic dermatitis and six control cats with no skin disease were examined. Lymphoid and histiocytic cells in skin sections were examined immunohistochemically and mast cells were identified by toluidine blue staining. The 16 allergic cats showed one or more of several features (alopecia, eosinophilic plaques or granulomas, papulocrusting lesions), and histopathological findings were diverse. In control cats there were no cells that expressed IgM or MAC387, a few that were immunolabelled for IgG, IgA or CD3, and moderate numbers of mast cells. In allergic cats, positively labelled inflammatory cells were generally more numerous in lesional than in non-lesional skin sections, and were particularly associated with the superficial dermis and perifollicular areas. There were low numbers of plasma cells expressing cytoplasmic immunoglobulin; moderate numbers of MHC II-, MAC387- and CD3-positive cells; and moderate to numerous mast cells. MHC class II expression was associated with inflammatory cells morphologically consistent with dermal dendritic cells and macrophages, and epidermal Langerhans cells. Dendritic cells expressing MHC class II were usually associated with an infiltrate of CD3 lymphocytes, suggesting that these cells participate in maintenance of the local immune response by presenting antigen to T lymphocytes. These findings confirm that feline allergic skin disease is characterized by infiltration of activated antigen-presenting cells and T lymphocytes in addition to increased numbers of dermal mast cells. This pattern mimics the dermal inflammation that occurs in the chronic phase of both canine and human atopic dermatitis.

Identification of mast cells in buffy coat preparations from dogs with inflammatory skin diseases.

Science.gov (United States)

Cayatte, S M; McManus, P M; Miller, W H; Scott, D W

1995-02-01

In 100 dogs with 4 inflammatory dermatologic diseases, buffy coat preparations from EDTA-treated blood samples were examined cytologically. Fifty-four dogs had atopy, 26 had flea-bite hypersensitivity, 17 had sarcoptic mange, and 3 had food allergy. Twenty-eight dogs had 2 or more concurrent skin diseases; most of these had secondary pyoderma. Dogs did not have mast cell tumors. Thirteen samples contained 1 or more mast cells/4 slides reviewed. This study revealed that dogs with inflammatory skin diseases can have a few to many mast cells evident on cytologic examination of buffy coat preparations.

The Impact of Chronic Skin Disease on Daily Life (ISDL): a generic and dermatology-specific health instrument.

NARCIS (Netherlands)

Evers, A.W.M.; Duller, P.; Kerkhof, P.C.M. van de; Valk, P.G.M. van der; Jong, E.M.G.J. de; Gerritsen, M.J.P.; Otero, E.; Verhoeven, E.W.M.; Verhaak, C.M.; Kraaimaat, F.W.

2008-01-01

BACKGROUND: In dermatological research and clinical practice, there is a need for comprehensive self-report instruments that assess a broad spectrum of health implications of chronic skin diseases, including generic and skin-specific aspects of disease-related quality of life. The advantages of

Understanding the Effects of Host Evolution and Skin Bacteria Composition on Disease Vector Choices

Science.gov (United States)

2016-04-14

Distribution Unlimited UU UU UU UU 14-04-2016 1-Sep-2014 31-Dec-2015 Final Report: Understanding the effects of host evolution and skin bacteria ...S) AND ADDRESS (ES) U.S. Army Research Office P.O. Box 12211 Research Triangle Park, NC 27709-2211 mosquito, skin, bacteria , primate REPORT...reviewed journals: Final Report: Understanding the effects of host evolution and skin bacteria composition on disease vector choices Report Title Here

Renal function predicts long-term outcome on enzyme replacement therapy in patients with Fabry disease.

Science.gov (United States)

Lenders, Malte; Schmitz, Boris; Stypmann, Jörg; Duning, Thomas; Brand, Stefan-Martin; Kurschat, Christine; Brand, Eva

2017-12-01

Renal and cardiac involvement is responsible for substantial morbidity and mortality in Fabry disease (FD). We analysed the incidence of FD-related renal, cardiac and neurologic end points in patients with FD on long-term enzyme replacement therapy (ERT). A retrospective analysis of prospectively collected data from two German FD centres was performed. The impact of renal and cardiac function at ERT-naïve baseline on end point development despite ERT was analysed. Fifty-four patients (28 females) receiving ERT (mean 81 ± 21 months) were investigated. Forty per cent of patients were diagnosed with clinical end points before ERT initiation and 50% of patients on ERT developed new clinical end points. In patients initially diagnosed with an end point before ERT initiation, the risk for an additional end point on ERT was increased {hazard ratio [HR] 3.83 [95% confidence interval (CI) 1.61-9.08]; P = 0.0023}. A decreased glomerular filtration rate (eGFR) ≤75 mL/min/1.73 m2 in ERT-naïve patients at baseline was associated with an increased risk for cardiovascular end points [HR 3.59 (95% CI 1.15-11.18); P = 0.0273] as well as for combined renal, cardiac and neurologic end points on ERT [HR 4.77 (95% CI 1.93-11.81); P = 0.0007]. In patients with normal kidney function, left ventricular hypertrophy at baseline predicted a decreased end point-free survival [HR 6.90 (95% CI 2.04-23.27); P = 0.0018]. The risk to develop an end point was independent of sex. In addition to age, even moderately impaired renal function determines FD progression on ERT. In patients with FD, renal and cardiac protection is warranted to prevent patients from deleterious manifestations of the disease. © The Author 2016. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved.

Chronic pruritus in the absence of specific skin disease: an update on pathophysiology, diagnosis, and therapy.

Science.gov (United States)

Cassano, Nicoletta; Tessari, Gianpaolo; Vena, Gino A; Girolomoni, Giampiero

2010-12-01

Chronic pruritus is a major and distressing symptom of many cutaneous and systemic diseases and can significantly impair the patient's quality of life. Pruritus perception is the final result of a complex network involving dedicated nerve pathways and brain areas, and an increasing number of peripheral and central mediators are thought to be involved. Itch is associated with most cutaneous disorders and, in these circumstances, its management overlaps with that of the skin disease. Itch can also occur without associated skin diseases or primary skin lesions, but only with nonspecific lesions secondary to rubbing or scratching. Chronic itch with no or minimal skin changes can be secondary to important diseases, such as neurologic disorders, chronic renal failure, cholestasis, systemic infections, malignancies, and endocrine disorders, and may also result from exposure to some drugs. The search for the cause of pruritus usually requires a meticulous step-by-step assessment involving careful history taking as well as clinical examination and laboratory investigations. Few evidence-based treatments for pruritus are available. Topical therapy, oral histamine H(1) receptor antagonists, and phototherapy with UV radiation can target pruritus elicitation in the skin, whereas antiepileptic drugs, opioid receptor antagonists, and antidepressants can block signal processing in the CNS.

Skin Cancer Screening

Science.gov (United States)

... Genetics of Skin Cancer Skin Cancer Screening Research Skin Cancer Screening (PDQ®)–Patient Version What is screening? ... These are called diagnostic tests . General Information About Skin Cancer Key Points Skin cancer is a disease ...

Stable CW Single Frequency Operation of Fabry-Perot Laser Diodes by Self-Injection Phase Locking

Science.gov (United States)

Duerksen, Gary L.; Krainak, Michael A.

1999-01-01

Previously, single-frequency semiconductor laser operation using fiber Bragg gratings has been achieved by tWo methods: 1) use of the FBG as the output coupler for an anti-reflection-coated semiconductor gain element'; 2) pulsed operation of a gain-switched Fabry-Perot laser diode with FBG-optical and RF-electrical feedback'. Here, we demonstrate CW single frequency operation from a non-AR coated Fabry-Perot laser diode using only FBG optical feedback.

Skin in health and diseases in ṛgveda saṃhiṭa: an overview.

Science.gov (United States)

Mukhopadhyay, Amiya Kumar

2013-11-01

Ṛgveda is the oldest religious book of the Aryans. It picturises the early lives of the Aryans. We get mention of various diseases in this Veda. Skin - both in health and diseases had caught attention of the Vedic sages. Skin was not merely an organ of attraction and look but its colour was important socially. Mentions of various diseases like leprosy, guinea worm, jaundice etc., are interesting. Mention of different disorders of the nails and hair are also there, though in a very primitive and mystic form. Management strategy was consisted of herbs, amulates, chanting of mantras, touching the body, uses of water and sunrays etc. This may be presumed that this Veda founded the base for the Āyurveda of the later period.

Idelalisib-induced colitis and skin eruption mimicking graft-versus-host disease.

Science.gov (United States)

Hammami, Muhammad Bader; Al-Taee, Ahmad; Meeks, Marshall; Fesler, Mark; Hurley, M Yadira; Cao, Dengfeng; Lai, Jin-Ping

2017-04-01

Idelalisib is a selective inhibitor of the delta isoform of phosphatidylinositol 3-kinase which was approved by the United States Federal Drug Administration in 2014 for the treatment of relapsed chronic lymphocytic leukemia and indolent non-Hodgkin lymphoma. Drug-induced injury of the gastrointestinal tract is a relatively frequent but usually under-recognized disease entity. We report the case of a 56-year-old male with a history of relapsed follicular lymphoma status post allogenic bone marrow transplant who developed severe diarrhea with a skin eruption mimicking graft-versus-host disease (GVHD) 6 months after starting idelalisib. He underwent a colonoscopy demonstrating a grossly normal-appearing colon and terminal ileum. Biopsies taken during the procedure revealed mild active ileitis, colitis, and proctitis with frequent epithelial apoptosis, and focal intra-epithelial lymphocytosis. Skin biopsies revealed sub-acute spongiotic dermatitis suggestive of either contact dermatitis or an eczematous drug reaction. Symptoms were attributed to idelalisib given their resolution with withdrawal of the drug in conjunction with the skin and colonic biopsies. High clinical suspicion and awareness of the histological features of idelalisib-associated colitis is important to distinguish it from potential mimickers such as GVHD and infectious colitis.

Low Rates of Dermatologic Care and Skin Cancer Screening Among Inflammatory Bowel Disease Patients.

Science.gov (United States)

Anderson, Alyce; Ferris, Laura K; Click, Benjamin; Ramos-Rivers, Claudia; Koutroubakis, Ioannis E; Hashash, Jana G; Dunn, Michael; Barrie, Arthur; Schwartz, Marc; Regueiro, Miguel; Binion, David G

2018-04-30

Dermatologic manifestations of inflammatory bowel disease (IBD) are common, and certain IBD medications increase the risk of skin cancer. To define the rates of care and factors associated with dermatologic utilization with a focus on skin cancer screening. We utilized a prospective, natural history IBD research registry to evaluate all outpatient healthcare encounters from 2010 to 2016. Gastrointestinal, dermatologic and primary care visits per individual were identified. We calculated the proportion of patients obtaining care, categorized primary indications for dermatologic visits, determined the incidence of melanoma and non-melanoma skin cancers, and used logistic regression to determine factors associated with dermatology utilization. Of the 2127 IBD patients included, 452 (21.3%) utilized dermatology over the study period, and 55 (2.6%) had a total body skin examination at least once. The 452 patients incurred 1633 dermatology clinic visits, 278 dermatologic procedures, and 1108 dermatology telephone encounters. The most frequent indication was contact dermatitis or dermatitis. Factors associated with dermatology use were family history of skin cancer, employment, systemic steroids, longer disease duration, emergency room use, and the number of IBD-related clinic visits. Between 8.3 and 11% of IBD patients recommended for skin cancer screening visited dermatology each year, and the resulting incidence of non-melanoma skin cancer was 35.4/10,000 [95% CI 23.3-51.5] and melanoma was 6.56/10,000 [95% CI 2.1-15.3]. Less than one in ten IBD patients obtain dermatologic care. Given the increased risk of skin cancers among IBD patients, an emphasis on education, prevention, and screening merits attention.

Characterization of sheep pox virus vaccine for cattle against lumpy skin disease virus

Science.gov (United States)

Tuppurainen, Eeva S.M.; Pearson, Caroline R.; Bachanek-Bankowska, Katarzyna; Knowles, Nick J.; Amareen, Shadi; Frost, Lorraine; Henstock, Mark R.; Lamien, Charles E.; Diallo, Adama; Mertens, Peter P.C.

2014-01-01

Lumpy skin disease is of significant economic impact for the cattle industry in Africa. The disease is currently spreading aggressively in the Near East, posing a threat of incursion to Europe and Asia. Due to cross-protection within the Capripoxvirus genus, sheep pox virus (SPPV) vaccines have been widely used for cattle against lumpy skin disease virus (LSDV). In the Middle East and the Horn of Africa these vaccines have been associated with incomplete protection and adverse reactions in cattle post-vaccination. The present study confirms that the real identity of the commonly used Kenyan sheep and goat pox vaccine virus (KSGP) O-240 is not SPPV but is actually LSDV. The low level attenuation of this virus is likely to be not sufficient for safe use in cattle, causing clinical disease in vaccinated animals. In addition, Isiolo and Kedong goat pox strains, capable of infecting sheep, goats and cattle are identified for potential use as broad-spectrum vaccine candidates against all capripox diseases. PMID:24973760

The detection of lumpy skin disease virus in samples of experimentally infected cattle using different diagnostic techniques

Directory of Open Access Journals (Sweden)

E.S.M. Tuppurainen

2005-09-01

Full Text Available Lumpy skin disease (LSD is a disease of cattle, primarily in Africa and Madagascar and rarely in the Middle East. It is caused by a capripoxvirus that belongs to the family Poxviridae. The disease is of economic importance in endemic areas. Effective control of LSD requires accurate and rapid laboratory techniques to confirm a tentative clinical diagnosis. Comparative studies on different diagnostic tests used at different stages of the disease have not been done. The aim of this study was to compare several of these tests. Six seronegative bulls, between 11 and 20 months of age, were infected intravenously and kept in an insect-free facility. The course of the infection was monitored. During a 3-month period blood samples and skin biopsies were collected for virus isolation and polymerase chain reaction (PCR. Skin biopsies were also examined using transmission electron microscopy (TEM. The incubation period in infected animals varied from 4-5 days. The length of the viraemic period did not correlate with the severity of clinical disease. Viraemia was detected from 1-12 days using virus isolation and from 4-11 days using the PCR, which is longer than has previously been reported. Virus was isolated from skin biopsies until Day 39 post infection (p.i. and PCR could demonstrate viral DNA until Day 92 p.i. Transmission electron microscopy of negatively stained skin biopsies detected LSD virus only in one of the four bulls that developed skin lesions until Day 33 p.i. The PCR was a fast and sensitive method to demonstrate viral DNA in blood and skin samples. It could detect viral nucleic acid in skin lesions 53 days longer than virus isolation. Virus isolation from blood and skin samples was sensitive and reliable, but as a single test it may be too time-consuming to use although this depends on how rapidly the diagnosis must be confirmed. In conclusion, this study showed the PCR to be superior in detecting LSD virus from blood and skin samples

Effective length of short Fabry-Perot cavity formed by uniform fiber Bragg gratings.

Science.gov (United States)

Barmenkov, Yuri O; Zalvidea, Dobryna; Torres-Peiró, Salvador; Cruz, Jose L; Andrés, Miguel V

2006-07-10

In this paper, we describe the properties of Fabry-Perot fiber cavity formed by two fiber Bragg gratings in terms of the grating effective length. We show that the grating effective length is determined by the group delay of the grating, which depends on its diffraction efficiency and physical length. We present a simple analytical formula for calculation of the effective length of the uniform fiber Bragg grating and the frequency separation between consecutive resonances of a Fabry-Perot cavity. Experimental results on the cavity transmission spectra for different values of the gratings' reflectivity support the presented theory.

Children with Rare Chronic Skin Diseases: Hemangiomas and Epidermolysis Bullosa.

Science.gov (United States)

Jones, Sheila Dove; Miller, Cynthia Dieterich

The paper reports on studies involving children having the rare chronic skin diseases of hemangiomas and epidermolysis bullosa (characterized by easy blistering). One study compared the self-concept and psychosocial development of young (mean age 46 months) children (N=19) with hemangiomas with 19 children without hemangiomas. Findings indicated…

Effect of Alpinia zerumbet components on antioxidant and skin diseases-related enzymes

Directory of Open Access Journals (Sweden)

Chompoo Jamnian

2012-07-01

Full Text Available Abstract Background The skin is chronically exposed to endogenous and environmental pro-oxidant agents, leading to the harmful generation of reactive oxygen species. Antioxidant is vital substances which possess the ability to protect the body from damage cause by free radicals induce oxidative stress. Alpinia zerumbet, a traditionally important economic plant in Okinawa, contains several interesting bioactive constituents and possesses health promoting properties. In this regard, we carried out to test the inhibitory effect of crude extracts and isolated compounds from A. zerumbet on antioxidant and skin diseases-related enzymes. Methods The antioxidant activities were examined by DPPH, ABTS and PMS-NADH radical scavenging. Collagenase, elastase, hyaluronidase and tyrosinase were designed for enzymatic activities to investigate the inhibitory properties of test samples using a continuous spectrophotometric assay. The inhibitory capacity of test samples was presented at half maximal inhibitory concentration (IC50. Results The results showed that aqueous extract of the rhizome was found to have greater inhibitory effects than the others on both of antioxidant and skin diseases-related enzymes. Furthermore, 5,6-dehydrokawain (DK, dihydro-5,6-dehydrokawain (DDK and 8(17,12-labdadiene-15,16-dial (labdadiene, isolated from rhizome, were tested for antioxidant and enzyme inhibitions. We found that DK showed higher inhibitory activities on DPPH, ABTS and PMS-NADH scavenging (IC50 = 122.14 ± 1.40, 110.08 ± 3.34 and 127.78 ± 4.75 μg/ml, respectively. It also had stronger inhibitory activities against collagenase, elastase, hyaluronidase and tyrosinase (IC50 = 24.93 ± 0.97, 19.41 ± 0.61, 19.48 ± 0.24 and 76.67 ± 0.50 μg/ml, respectively than DDK and labdadiene. Conclusion Our results indicate that the rhizome aqueous extract proved to be the source of bioactive compounds against enzymes responsible for

Temperature-independent refractometer based on fiber-optic Fabry-Perot interferometer

Science.gov (United States)

Li, Jiacheng; Qiao, Xueguang; Wang, Ruohui; Rong, Qiangzhou; Bao, Weijia; Shao, Zhihua; Yang, Tingting

2016-04-01

A miniature fiber-optic refractometer based on Fabry-Perot interferometer (FPI) has been proposed and experimentally demonstrated. The sensing head consists of a short section of photonics crystal fiber (PCF) spliced to a single mode fiber (SMF), in which the end-face of the PCF is etched to remove holey structure with hydrofluoric (HF) acid. A Fabry-Perot interference spectrum is achieved based on the reflections from the fusion splicing interface and the end-face of the core of PCF. The interference fringe is sensitive to the external refractive index (RI) with an intensity-referenced sensitivity of 358.27 dB/RIU ranging from 1.33 to 1.38. The sensor has also been implemented for the concentration measurement of λ-phage DNA solution. In addition, the dip intensity is insensitive to the ambient temperature variation, making it a good candidate for temperature-independent bio-sensing area.

Autoimmune Subepidermal Bullous Diseases of the Skin and Mucosae: Clinical Features, Diagnosis, and Management.

Science.gov (United States)

Amber, Kyle T; Murrell, Dedee F; Schmidt, Enno; Joly, Pascal; Borradori, Luca

2018-02-01

Autoimmune subepidermal blistering diseases of the skin and mucosae constitute a large group of sometimes devastating diseases, encompassing bullous pemphigoid, gestational pemphigoid, mucous membrane pemphigoid, epidermolysis bullosa acquisita, and anti-p200 pemphigoid. Their clinical presentation is polymorphic. These autoimmune blistering diseases are associated with autoantibodies that target distinct components of the basement membrane zone of stratified epithelia. These autoantigens represent structural proteins important for maintenance of dermo-epidermal integrity. Bullous pemphigoid (BP) is the most common subepidermal autoimmune blistering disease of the skin and mucosae. Although the disease typically presents with a generalized blistering eruption associated with itch, atypical variants with either localized bullous lesions or "non-bullous" presentations are observed in approximately 20% of patients. A peculiar form of BP typically associated with pregnancy is pemphigoid gestationis. In anti-p200 pemphigoid, patients present with tense blisters on erythematosus or normal skin resembling BP, with a predilection for acral surfaces. These patients have antibodies targeting the 200-kDa basement membrane protein. Epidermolysis bullosa is a rare autoimmune blistering disease associated with autoantibodies against type VII collagen that can have several phenotypes including a classical form mimicking dystrophic epidermolysis bullosa, an inflammatory presentation mimicking BP, or mucous membrane pemphigoid-like lesions. Mucous membrane pemphigoid (MMP) is the term agreed upon by international consensus for an autoimmune blistering disorder, which affects one or more mucous membrane and may involve the skin. The condition involves a number of different autoantigens in the basement membrane zone. It may result in severe complications from scarring, such as blindness and strictures. Diagnosis of these diseases relies on direct immunofluorescence microscopy studies

Skin in health and diseases in Ṛgveda saṃhiṭa: An overview

Directory of Open Access Journals (Sweden)

Amiya Kumar Mukhopadhyay

2013-01-01

Full Text Available Ṛgveda is the oldest religious book of the Aryans. It picturises the early lives of the Aryans. We get mention of various diseases in this Veda. Skin - both in health and diseases had caught attention of the Vedic sages. Skin was not merely an organ of attraction and look but its colour was important socially. Mentions of various diseases like leprosy, guinea worm, jaundice etc., are interesting. Mention of different disorders of the nails and hair are also there, though in a very primitive and mystic form. Management strategy was consisted of herbs, amulates, chanting of mantras, touching the body, uses of water and sunrays etc. This may be presumed that this Veda founded the base for the Βyurveda of the later period.

Clinical and genetic investigation of a Japanese family with cardiac fabry disease. Identification of a novel α-galactosidase A missense mutation (G195V).

Science.gov (United States)

Nakagawa, Naoki; Maruyama, Hiroki; Ishihara, Takayuki; Seino, Utako; Kawabe, Jun-ichi; Takahashi, Fumihiko; Kobayashi, Motoi; Yamauchi, Atsushi; Sasaki, Yukie; Sakamoto, Naka; Ota, Hisanobu; Tanabe, Yasuko; Takeuchi, Toshiharu; Takenaka, Toshihiro; Kikuchi, Kenjiro; Hasebe, Naoyuki

2011-01-01

Fabry disease is an X-linked lysosomal storage disorder caused by mutations of the α-galactosidase A gene (GLA), and the disease is a relatively prevalent cause of left ventricular hypertrophy mimicking idiopathic hypertrophic cardiomyopathy. We assessed clinically 5 patients of a three-generation family and also searched for GLA mutations in 10 family members. The proband had left ventricular hypertrophy with localized thinning in the basal posterior wall and late gadolinium enhancement (LGE) in the near-circumferential wall in cardiovascular magnetic resonance images and her sister had vasospastic angina pectoris without organic stenosis of the coronary arteries. LGE notably appeared in parallel with decreased α-galactosidase A activity and increased NT-pro BNP in our patients. We detected a new GLA missense mutation (G195V) in exon 4, resulting in a glycine-to-valine substitution. Of the 10 family members, 5 family members each were positive and negative for this mutation. These new data extend our clinical and molecular knowledge of GLA gene mutations and confirm that a novel missense mutation in the GLA gene is important not only for a precise diagnosis of heterozygous status, but also for confirming relatives who are negative for this mutation.

Cardiac and renal dysfunction is associated with progressive hearing loss in patients with Fabry disease.

Directory of Open Access Journals (Sweden)

Maria Köping

Full Text Available Fabry disease (FD is an X-linked recessive hereditary lysosomal storage disorder which results in the accumulation of globotriaosylceramid (Gb3 in tissues of kidney and heart as well as central and peripheral nervous system. Besides prominent renal and cardiac organ involvement, cochlear symptoms like high-frequency hearing loss and tinnitus are frequently found with yet no comprehensive data available in the literature.To examine hearing loss in patients with FD depending on cardiac and renal function.Single-center study with 68 FD patients enrolled between 2012 and 2016 at the Department of Oto-Rhino-Laryngology, Plastic, Aesthetic and Reconstructive Head and Neck Surgery of the University of Würzburg. Every subject underwent an oto-rhino-laryngological examination as well as behavioral, electrophysiological and electroacoustical audiological testing. High-frequency thresholds were evaluated by using a modified PTA6 (0.5, 1, 2, 4, 6, 8 and HF-PTA (6, 8 kHz. Renal function was measured by eGFR, cardiac impairment was graduated by NYHA class.Sensorineural hearing loss was detected in 58.8% of the cohort, which occurred typically in sudden episodes and affected especially high frequencies. Hearing loss is asymmetric, beginning unilaterally and affecting the contralateral ear later. Tinnitus was reported by 41.2%. Renal and cardiac impairment influenced the severity of hearing loss (p < 0.05.High frequency hearing loss is a common problem in patients with FD. Although not life-threatening, it can seriously reduce quality of life and should be taken into account in diagnosis and therapy. Optimized extensive hearing assessment including higher frequency thresholds should be used.

Cutaneous Leishmaniasis Induces a Transmissible Dysbiotic Skin Microbiota that Promotes Skin Inflammation.

Science.gov (United States)

Gimblet, Ciara; Meisel, Jacquelyn S; Loesche, Michael A; Cole, Stephen D; Horwinski, Joseph; Novais, Fernanda O; Misic, Ana M; Bradley, Charles W; Beiting, Daniel P; Rankin, Shelley C; Carvalho, Lucas P; Carvalho, Edgar M; Scott, Phillip; Grice, Elizabeth A

2017-07-12

Skin microbiota can impact allergic and autoimmune responses, wound healing, and anti-microbial defense. We investigated the role of skin microbiota in cutaneous leishmaniasis and found that human patients infected with Leishmania braziliensis develop dysbiotic skin microbiota, characterized by increases in the abundance of Staphylococcus and/or Streptococcus. Mice infected with L. major exhibit similar changes depending upon disease severity. Importantly, this dysbiosis is not limited to the lesion site, but is transmissible to normal skin distant from the infection site and to skin from co-housed naive mice. This observation allowed us to test whether a pre-existing dysbiotic skin microbiota influences disease, and we found that challenging dysbiotic naive mice with L. major or testing for contact hypersensitivity results in exacerbated skin inflammatory responses. These findings demonstrate that a dysbiotic skin microbiota is not only a consequence of tissue stress, but also enhances inflammation, which has implications for many inflammatory cutaneous diseases. Copyright © 2017 Elsevier Inc. All rights reserved.

First experience of simultaneous PET/MRI for the early detection of cardiac involvement in patients with Anderson-Fabry disease

Energy Technology Data Exchange (ETDEWEB)

Nappi, Carmela; Altiero, Michele; Imbriaco, Massimo; Giudice, Caterina Anna; Spinelli, Letizia; Cuocolo, Alberto [University Federico II, Department of Advanced Biomedical Sciences, Naples (Italy); Nicolai, Emanuele; Aiello, Marco; Diomiaiuti, Claudio Tommaso [IRCCS SDN, Naples (Italy); Pisani, Antonio [University Federico II, Department of Public Health, Naples (Italy)

2015-03-26

Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder associated with severe multiorgan dysfunction and premature death. Early diagnosis and treatment strategies play a key role in patient outcome. We investigated the potential role of hybrid PET/MR imaging in the assessment of early cardiac involvement in AFD patients. Thirteen AFD patients without cardiac symptoms and with normal left ventricular function underwent simultaneous cardiac PET/MR imaging after administration of {sup 18}F-FDG. Cardiac FDG uptake was quantified by measuring the standardized uptake value in 17 myocardial segments in each subject. The coefficient of variation (COV, i.e. the standard deviation divided by the average) of the uptake of the 17 segments was calculated as an index of heterogeneity in the heart. Six patients exhibited focal late gadolinium enhancement (LGE) indicating intramyocardial fibrosis, and four of these also had positive short inversion time inversion recovery (STIR) sequences. All patients with LGE and positive STIR MR images showed focal FDG uptake in the corresponding myocardial segments indicating inflammation. Of the seven patients with negative LGE and STIR images, five showed homogeneous FDG cardiac uptake and two showed heterogeneous FDG uptake. The COV was significantly greater in patients with focal FDG uptake (0.25 ± 0.02) than in those without (0.14 ± 0.07, p < 0.01). PET/MR imaging is clinically feasible for the early detection of cardiac involvement in patients with AFD. Further studies evaluating the role of hybrid PET/MR imaging in management of the disease in larger patient populations are warranted. (orig.)

First experience of simultaneous PET/MRI for the early detection of cardiac involvement in patients with Anderson-Fabry disease

International Nuclear Information System (INIS)

Nappi, Carmela; Altiero, Michele; Imbriaco, Massimo; Giudice, Caterina Anna; Spinelli, Letizia; Cuocolo, Alberto; Nicolai, Emanuele; Aiello, Marco; Diomiaiuti, Claudio Tommaso; Pisani, Antonio

2015-01-01

Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder associated with severe multiorgan dysfunction and premature death. Early diagnosis and treatment strategies play a key role in patient outcome. We investigated the potential role of hybrid PET/MR imaging in the assessment of early cardiac involvement in AFD patients. Thirteen AFD patients without cardiac symptoms and with normal left ventricular function underwent simultaneous cardiac PET/MR imaging after administration of 18 F-FDG. Cardiac FDG uptake was quantified by measuring the standardized uptake value in 17 myocardial segments in each subject. The coefficient of variation (COV, i.e. the standard deviation divided by the average) of the uptake of the 17 segments was calculated as an index of heterogeneity in the heart. Six patients exhibited focal late gadolinium enhancement (LGE) indicating intramyocardial fibrosis, and four of these also had positive short inversion time inversion recovery (STIR) sequences. All patients with LGE and positive STIR MR images showed focal FDG uptake in the corresponding myocardial segments indicating inflammation. Of the seven patients with negative LGE and STIR images, five showed homogeneous FDG cardiac uptake and two showed heterogeneous FDG uptake. The COV was significantly greater in patients with focal FDG uptake (0.25 ± 0.02) than in those without (0.14 ± 0.07, p < 0.01). PET/MR imaging is clinically feasible for the early detection of cardiac involvement in patients with AFD. Further studies evaluating the role of hybrid PET/MR imaging in management of the disease in larger patient populations are warranted. (orig.)

Radionuclide therapy of skin cancers and Bowen's disease using specially designed skin patch: A pilot study in an animal model and clinical trial

International Nuclear Information System (INIS)

Lee, J. D.; Park, K. K.; Lee, M. G.; Lee, J. T.; Yoo, H. S.; Kim, E. H.; Rhim, K. J.; Kim, Y. M.; Park, K. B.; Kim, J. R.

1997-01-01

Skin cancer is the most common malignant tumors in human. Therapeutic modalities of the skin cancers are local destruction, radiotherapy and surgery. External radiation therapy leads to good results, however, overall 5-6 weeks of treatment period is needed to deliver optimal radiation dose to tumors. In this study, β-emitting radionuclide, Ho-166, impregnated in a specially designed patch was utilized to superficial skin cancers and Bowen's disease for local irradiation. Methods; Animal study was employed in 10 mice with chemically induced skin tumors. Five- mm size patches containing 22.2 -72.15 MBq(0.6 - 1.95 mCi) of Ho-166 were applied to the tumor surface for 1 -2 hr. In clinical trial, patients with squamous carcinoma(n=3), basal cell carcinoma(n=1), and Bowen's disease(n=1) were treated with patches containing 273.8 - 999 MBq (7.4 - 27 mCi) of Ho-166 for 30 minutes to 1 hour. Pathologic examination was performed 4 - 7 weeks after the treatment in animal model. Skin biopsy was performed 8 weeks post-treatment in four patients. Results; Tumor destruction was seen 1 week post the treatment, however, radiation dermatitis or ulceration developed at the site of radionuclide application. Those reactions healed gradually with fibrosis or epithelialization, which was confirmed pathologically. No significant adverse reaction to radiation except subcutaneous fibrosis was found. Conclusion; Superficial skin tumors could be successfully treated by topical application of β-emitting radionuclides. (author)

Skin autofluorescence is associated with the progression of chronic kidney disease: a prospective observational study.

Science.gov (United States)

Tanaka, Kenichi; Nakayama, Masaaki; Kanno, Makoto; Kimura, Hiroshi; Watanabe, Kimio; Tani, Yoshihiro; Kusano, Yuki; Suzuki, Hodaka; Hayashi, Yoshimitsu; Asahi, Koichi; Sato, Keiji; Miyata, Toshio; Watanabe, Tsuyoshi

2013-01-01

Advanced glycation end product (AGE) accumulation is thought to be a measure of cumulative metabolic stress that has been reported to independently predict cardiovascular disease in diabetes and renal failure. The aim of this study was to evaluate the association between AGE accumulation, measured as skin autofluorescence, and the progression of renal disease in pre-dialysis patients with chronic kidney disease (CKD). Skin autofluorescence was measured noninvasively with an autofluorescence reader at baseline in 449 pre-dialysis patients with CKD. The primary end point was defined as a doubling of serum creatinine and/or need for dialysis. Thirty-three patients were lost to follow-up. Forty six patients reached the primary end point during the follow-up period (Median 39 months). Kaplan-Meier analysis showed a significantly higher risk of development of the primary end points in patients with skin autofluorescence levels above the optimal cut-off level of 2.31 arbitrary units, derived by receiver operator curve analysis. Cox regression analysis revealed that skin autofluorescence was an independent predictor of the primary end point, even after adjustment for age, gender, smoking history, diabetes, estimated glomerular filtration rate and proteinuria (adjusted hazard ratio 2.58, P = 0.004). Tissue accumulation of AGEs, measured as skin autofluorescence, is a strong and independent predictor of progression of CKD. Skin autofluorescence may be useful for risk stratification in this group of patients; further studies should clarify whether AGE accumulation could be one of the therapeutic targets to improve the prognosis of CKD.

Differential Radiometers Using Fabry-Perot Interferometric Technique for Remote Sensing of Greenhouse Gases

Science.gov (United States)

Georgieva, Elena M.; Heaps,William S.; Wilson, Emily L.

2007-01-01

A new type of remote sensing radiometer based upon the Fabry-Perot interferometric technique has been developed at NASA's Goddard Space Flight Center and tested from both ground and aircraft platform. The sensor uses direct or reflected sunlight and has channels for measuring column concentration of carbon dioxide at 1570 nm, oxygen lines sensitive to pressure and temperature at 762 and 768 nm, and water vapor (940 nm). A solid Fabry-Perot etalon is used as a tunable narrow bandpass filter to restrict the measurement to the gas of interest's absorption bands. By adjusting the temperature of the etalon, which changes the index of refraction of its material, the transmission fringes can be brought into nearly exact correspondence with absorption lines of the particular species. With this alignment between absorption lines and fringes, changes in the amount of a species in the atmosphere strongly affect the amount of light transmitted by the etalon and can be related to gas concentration. The technique is applicable to different chemical species. We have performed simulations and instrument design studies for CH4, "Cot isotope, and CO detection. Index Terms- Absorbing media, Atmospheric measurements, Fabry-Perot interferometers, Optical interferometry, Remote sensing.

The comparison of environmental effects on michelson and fabry-perot interferometers utilized for the displacement measurement.

Science.gov (United States)

Wang, Yung-Cheng; Shyu, Lih-Horng; Chang, Chung-Ping

2010-01-01

The optical structure of general commercial interferometers, e.g., the Michelson interferometers, is based on a non-common optical path. Such interferometers suffer from environmental effects because of the different phase changes induced in different optical paths and consequently the measurement precision will be significantly influenced by tiny variations of the environmental conditions. Fabry-Perot interferometers, which feature common optical paths, are insensitive to environmental disturbances. That would be advantageous for precision displacement measurements under ordinary environmental conditions. To verify and analyze this influence, displacement measurements with the two types of interferometers, i.e., a self-fabricated Fabry-Perot interferometer and a commercial Michelson interferometer, have been performed and compared under various environmental disturbance scenarios. Under several test conditions, the self-fabricated Fabry-Perot interferometer was obviously less sensitive to environmental disturbances than a commercial Michelson interferometer. Experimental results have shown that induced errors from environmental disturbances in a Fabry-Perot interferometer are one fifth of those in a Michelson interferometer. This has proved that an interferometer with the common optical path structure will be much more independent of environmental disturbances than those with a non-common optical path structure. It would be beneficial for the solution of interferometers utilized for precision displacement measurements in ordinary measurement environments.

Optical coherence tomography for imaging of skin and skin diseases

DEFF Research Database (Denmark)

Mogensen, Mette; Thrane, Lars; Jørgensen, Thomas Martini

2009-01-01

Optical coherence tomography (OCT) is an emerging imaging technology based on light reflection. It provides real-time images with up to 2-mm penetration into the skin and a resolution of approximately 10 μm. It is routinely used in ophthalmology. The normal skin and its appendages have been studi...... technical solutions are being pursued to further improve the quality of the images and the data provided, and OCT is being integrated in multimodal imaging devices that would potentially be able to provide a quantum leap to the imaging of skin in vivo....

Risk of death in heart disease is associated with elevated urinary globotriaosylceramide.

Science.gov (United States)

Schiffmann, Raphael; Forni, Sabrina; Swift, Caren; Brignol, Nastry; Wu, Xiaoyang; Lockhart, David J; Blankenship, Derek; Wang, Xuan; Grayburn, Paul A; Taylor, Matthew R G; Lowes, Brian D; Fuller, Maria; Benjamin, Elfrida R; Sweetman, Lawrence

2014-02-04

Elevated urinary globotriaosylceramide (Gb3) has been considered a hallmark of Fabry disease, an X-linked lysosomal disorder that is a risk factor for most types of heart disease. We screened 1421 consecutive patients with common forms of heart disease for Fabry disease by measuring urinary Gb3 in whole urine using tandem mass spectrometry, α-galactosidase A activity in dried blood spots, and we looked for GLA mutations by parallel sequencing of the whole gene (exons and introns) in pooled genomic DNA samples followed by Sanger sequencing verification. GLA variants were found in 13 patients. In the 1408 patients without GLA mutations, urinary Gb3 levels were significantly higher in heart disease patients compared to 116 apparently healthy controls (median difference=10.0 ng/mL and P<0.001). Urinary lipid profiling showed that levels of 5 other lipids significantly distinguished between urine of patients with Fabry disease (n=7) and heart disease patients with elevated urinary Gb3 (n=6). Sphingomyelin and Gb3 levels were abnormal in the left ventricular wall of patients with ischemic heart failure. Elevated levels of urinary Gb3 were independently associated with increased risk of death in the average follow-up of 17 months (hazard ratio=1.59 for increase in Gb3 of 200, 95% CI=1.36 and 1.87, and P<0.0001). In heart disease patients who do not have Fabry disease or GLA gene mutations, a higher level of urinary Gb3 is positively associated with near-term mortality. The elevation of urinary Gb3 and that of other lipids suggests that heart disease is associated with multiorgan lipid abnormalities. clinicaltrials.gov. Unique Identifier: NCT01019629.

Acne: a new model of immune-mediated chronic inflammatory skin disease.

Science.gov (United States)

Antiga, E; Verdelli, A; Bonciani, D; Bonciolini, V; Caproni, M; Fabbri, P

2015-04-01

Acne is a chronic inflammatory disease of the sebaceous-pilosebaceous unit. Interestingly, inflammation can be detected by histopathological examination and immuohistochemical analysis even in the apparently non-inflammatory acneic lesions, such as comedones. In the last years, it has been clearly demonstrated that acne development is linked to the combination of predisposing genetic factors and environmental triggers, among which a prominent role is played by the follicular colonization by Propionibacterium acnes (P. acnes). P. acnes displays several activities able to promote the development of acne skin lesions, including the promotion of follicular hyperkeratinisation, the induction of sebogenesis, and the stimulation of an inflammatory response by the secretion of proinflammatory molecules and by the activation of innate immunity, that is followed by a P. acnes-specific adaptive immune response. In addition, P. acnes-independent inflammation mediated by androgens or by a neurogenic activation, followed by the secretion in the skin of pro-inflammatory neuropeptides, can occur in acne lesions. In conclusion, acne can be considered as a model of immune-mediated chronic inflammatory skin disease, characterized by an innate immune response that is not able to control P. acnes followed by a Th1-mediated adaptive immune response, that becomes self-maintaining independently from P. acnes itself.

The Prevalence of Skin Diseases and its Association with Hygiene Behavior and Level of Education in a Pesantren, Jakarta Selatan 2013

Directory of Open Access Journals (Sweden)

Mohamad A. Sahala

2016-09-01

Full Text Available Skin diseases are very common in places where the society lives in a crowded area. Pesantren is anIslamic school with a dormitory for its students, thus making the spread of skin infection easier to occur. Theobjective of this research was to identify the association between the prevalence of skin diseases with the hygienebehavior and level of education of santris (students of pesantren. This cross-sectional study was conducted in apesantren in South Jakarta. Data collection was carried out through a questionnaire consisting of ten questionsabout hygienic behaviors and history of previous dermatological examinations from July until September 2013.Results showed that out of 98 santris, 88 of them had skin diseases (89.7%. The most frequent skin infectionwas scabies with 67 cases (49.3%. Furthermore, 78 (88.6% out of all santris who had skin diseases, werecategorized to have poor hygienic behaviors. There were only 10 santris that did not have any skin disease, 3of them had good hygienic behaviors. There was no significant difference between hygienic behaviors of santrisand the prevalence of skin disease (p=0.350. Associated with the level of education, ibtidaiyah had the highestnumber of santris (51.2% affected by skin diseases. There was a significant difference between the level ofeducation and the prevalence of skin diseases (p<0.001. In coclusion, the prevalence of skin diseases in thepesantren was 89.7%; there was no association between skin diseases and hygienic behaviors. However, therewas an association between skin diseases and level of education. Keywords: skin diseases, prevalence, personal behavior, level of education   Prevalensi Penyakit Kulit dan Hubungannya dengan Perilaku Kebersihandan Tingkat Pendidikan di Pesantren, Jakarta Selatan 2013 Abstrak Penyakit kulit sering terjadi pada masyarakat yang hidup di lingkungan padat penghuni. Pesantrenadalah asrama sekolah Islam yang biasanya padat penghuni sehingga mudah terjadi penularan

Diagnosing skin disease in primary care: a qualitative study of GPs' approaches.

Science.gov (United States)

Rübsam, Marie-Luise; Esch, Maximilian; Baum, Erika; Bösner, Stefan

2015-10-01

Skin diseases are a common reason for consulting a GP. This regular occurrence happens despite most GPs' lack of knowledge and training in skin disease. We aimed to explore different diagnostic approaches of GPs in patients presenting with a dermatological problem. In addition, we aimed to identify strategies used by GPs to handle diagnostic uncertainty in these patients. We conducted interviews (20-40 minutes) with 14 GPs using a semi-structured guideline. Recalling encounters with patients with skin disease, GPs described their individual diagnostic strategies. Interviews were taped and transcribed verbatim. Qualitative analysis was conducted by two independent raters using a deductive-inductive approach. We identified several aspects of a complex decision-making process in GPs' diagnostic management of patients with dermatological problems. In the general diagnostic workup, GPs used a broad spectrum of different strategies such as spot diagnosis, stepwise refinement, pattern recognition trigger or test of treatment. GPs reduced diagnostic uncertainty through the identification of red flags, the application of the test of time, therapeutic trials and asking for further advice, including patient referral. GPs encounter a broad range of dermatological problems in their daily work using a variety of strategies in the workup of these patients. However, in a significant number of patients, there remains diagnostic uncertainty that is mainly reduced by specialist referral. Regular training in the diagnosis and treatment of common dermatological diseases should be offered to all GPs. © The Author 2015. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Use of Myocardial T1 Mapping at 3.0 T to Differentiate Anderson-Fabry Disease from Hypertrophic Cardiomyopathy.

Science.gov (United States)

Karur, Gauri R; Robison, Sean; Iwanochko, Robert M; Morel, Chantal F; Crean, Andrew M; Thavendiranathan, Paaladinesh; Nguyen, Elsie T; Mathur, Shobhit; Wasim, Syed; Hanneman, Kate

2018-04-24

Purpose To compare left ventricular (LV) and right ventricular (RV) 3.0-T cardiac magnetic resonance (MR) imaging T1 values in Anderson-Fabry disease (AFD) and hypertrophic cardiomyopathy (HCM) and evaluate the diagnostic value of native T1 values beyond age, sex, and conventional imaging features. Materials and Methods For this prospective study, 30 patients with gene-positive AFD (37% male; mean age ± standard deviation, 45.0 years ± 14.1) and 30 patients with HCM (57% male; mean age, 49.3 years ± 13.5) were prospectively recruited between June 2016 and September 2017 to undergo cardiac MR imaging T1 mapping with a modified Look-Locker inversion recovery (MOLLI) acquisition scheme at 3.0 T (repetition time msec/echo time msec, 280/1.12; section thickness, 8 mm). LV and RV T1 values were evaluated. Statistical analysis included independent samples t test, receiver operating characteristic curve analysis, multivariable logistic regression, and likelihood ratio test. Results Septal LV, global LV, and RV native T1 values were significantly lower in AFD compared with those in HCM (1161 msec ± 47 vs 1296 msec ± 55, respectively [P 3.0 T are significantly lower in patients with AFD compared with those with HCM and provide independent and incremental diagnostic value beyond age, sex, and conventional imaging features. © RSNA, 2018.

Skin Stem Cells in Skin Cell Therapy

Directory of Open Access Journals (Sweden)

Mollapour Sisakht

2015-12-01

Full Text Available Context Preclinical and clinical research has shown that stem cell therapy is a promising therapeutic option for many diseases. This article describes skin stem cells sources and their therapeutic applications. Evidence Acquisition Compared with conventional methods, cell therapy reduces the surgical burden for patients because it is simple and less time-consuming. Skin cell therapy has been developed for variety of diseases. By isolation of the skin stem cell from the niche, in vitro expansion and transplantation of cells offers a surprising healing capacity profile. Results Stem cells located in skin cells have shown interesting properties such as plasticity, transdifferentiation, and specificity. Mesenchymal cells of the dermis, hypodermis, and other sources are currently being investigated to promote regeneration. Conclusions Because skin stem cells are highly accessible from autologous sources and their immunological profile is unique, they are ideal for therapeutic approaches. Optimization of administrative routes requires more investigation own to the lack of a standard protocol.

Characterization of sheep pox virus vaccine for cattle against lumpy skin disease virus.

Science.gov (United States)

Tuppurainen, Eeva S M; Pearson, Caroline R; Bachanek-Bankowska, Katarzyna; Knowles, Nick J; Amareen, Shadi; Frost, Lorraine; Henstock, Mark R; Lamien, Charles E; Diallo, Adama; Mertens, Peter P C

2014-09-01

Lumpy skin disease is of significant economic impact for the cattle industry in Africa. The disease is currently spreading aggressively in the Near East, posing a threat of incursion to Europe and Asia. Due to cross-protection within the Capripoxvirus genus, sheep pox virus (SPPV) vaccines have been widely used for cattle against lumpy skin disease virus (LSDV). In the Middle East and the Horn of Africa these vaccines have been associated with incomplete protection and adverse reactions in cattle post-vaccination. The present study confirms that the real identity of the commonly used Kenyan sheep and goat pox vaccine virus (KSGP) O-240 is not SPPV but is actually LSDV. The low level attenuation of this virus is likely to be not sufficient for safe use in cattle, causing clinical disease in vaccinated animals. In addition, Isiolo and Kedong goat pox strains, capable of infecting sheep, goats and cattle are identified for potential use as broad-spectrum vaccine candidates against all capripox diseases. Crown Copyright © 2014. Published by Elsevier B.V. All rights reserved.

The use of henna as an alternative skin marker in breast disease

International Nuclear Information System (INIS)

Griffiths, Anna; Murphy, Fred

2012-01-01

The aim of this study was to identify an alternative temporary skin marker that could be used to mark the skin of the breast prior to surgery, providing the surgeon with longer lasting accurate guidance to the location of the patient's breast lesion. Materials and methods: The upper quadrant of the breast was marked on all participants (n = 20) with a code in both henna and the conventional skin marker and photographic images were taken every 3 days for 2 weeks to assess the degree of fade. In addition a questionnaire (n = 136) surveyed current clinical practice amongst other breast services in the region. Results: This study found that henna lasted on average 6 days longer on study participants than the original skin marker used. The skin marker lasted on average 3 days whereas henna lasted on average 9 days, in addition participants who showered and used body wash/soap found that the henna skin marker lasted longer on the skin than participants' who bathed and used exfoliate. The survey revealed comments on current products such as sterility, ease of use and quick to apply but interestingly only 9% considered their current marker to be clearly visible. Conclusion: Henna is an effective temporary skin marker that could be used to mark the breast of patients with breast disease pre-operatively. It is cost effective when purchased in bulk, is more easily applied over ultrasound gel and has the potential to reduce infection prior to surgery.

Oral mucosal lesions in skin diseased patients attending a dermatologic clinic: a cross-sectional study in Sudan

Directory of Open Access Journals (Sweden)

Salman Hussein

2011-09-01

Full Text Available Abstract Background So far there have been no studies focusing on the prevalence of a wide spectrum of oral mucosal lesions (OML in patients with dermatologic diseases. This is noteworthy as skin lesions are strongly associated with oral lesions and could easily be neglected by dentists. This study aimed to estimate the frequency and socio-behavioural correlates of OML in skin diseased patients attending outpatient's facility of Khartoum Teaching Hospital - Dermatology Clinic, Sudan. Methods A cross-sectional hospital-based study was conducted in Khartoum from October 2008 to January 2009. A total of 588 patients (mean age 37.2 ± 16 years, 50.3% females completed an oral examination and a personal interview of which 544 patients (mean age 37.1 ± 15.9 years, 50% females with confirmed skin disease diagnosis were included for further analyses. OML were recorded using the World Health Organization criteria (WHO. Biopsy and smear were used as adjuvant techniques for confirmation. Data were analysed using the Statistical Package for Social Science (Version 15.0.1. Cross tabulation and Chi-square with Fisher's exact test were used. Results A total of 438 OML were registered in 315 (57.9%, males: 54.6% versus females: 45.6%, p Tongue lesions were the most frequently diagnosed OML (23.3%, followed in descending order by white lesions (19.1%, red and blue lesions (11% and vesiculobullous diseases (6%. OML in various skin diseases were; vesiculobullous reaction pattern (72.2%, lichenoid reaction pattern (60.5%, infectious lesions (56.5%, psoriasiform reaction pattern (56.7%, and spongiotic reaction pattern (46.8%. Presence of OML in skin diseased patients was most frequent in older age groups (62.4% older versus 52.7% younger, p Conclusions OML were frequently diagnosed in skin diseased patients and varied systematically with age, gender, systemic condition and use of toombak. The high prevalence of OML emphasizes the importance of routine examination

High-Temperature Sensor Based on Fabry-Perot Interferometer in Microfiber Tip

Directory of Open Access Journals (Sweden)

Zhenshi Chen

2018-01-01

Full Text Available A miniaturized tip Fabry-Perot interferometer (tip-FPI is proposed for high-temperature sensing. It is simply fabricated for the first time by splicing a short length of microfiber (MF to the cleaved end of a standard single mode fiber (SMF with precise control of the relative cross section position. Such a MF acts as a Fabry-Perot (FP cavity and serves as a tip sensor. A change in temperature modifies the length and refractive index of the FP cavity, and then a corresponding change in the reflected interference spectrum can be observed. High temperatures of up to 1000 °C are measured in the experiments, and a high sensitivity of 13.6 pm/°C is achieved. This compact sensor, with tip diameter and length both of tens of microns, is suitable for localized detection, especially in harsh environments.

Gaps in Workplace Education For Prevention of Occupational Skin Disease.

Science.gov (United States)

Gupta, Tanya; Arrandale, Victoria H; Kudla, Irena; Holness, D Linn

2018-02-13

Occupational contact dermatitis (OCD) is a common occupational disease. Evidence suggests that education and training are effective prevention strategies. In spite of these known prevention strategies, workers continue to develop OCD. Little is reported regarding the actual training experience of workers. To examine the training experience of workers with contact dermatitis to identify areas for improvement. Participants were workers being assessed for contact dermatitis in an occupational health clinic. The anonymous survey collected demographics, workplace characteristics, and education and prevention practices. Approximately 80% reported general occupational health and safety training; however, only 49% reported skin-specific training (SST). For workers reporting SST, most received information regarding exposure avoidance, hand washing, and glove use. This content was reported as helpful by at least 50%. Workers who did not receive SST indicated the most important content would be warning signs of skin problems, how to avoid exposure and skin care while using gloves. While the study was anonymous and used self-reported of training experience, the study suggests there are gaps in skin protection training. Addressing these gaps may lead to improved prevention and reduction in OCD. © The Author(s) 2017. Published by Oxford University Press on behalf of the British Occupational Hygiene Society.

Guía para el diagnóstico, seguimiento y tratamiento de la enfermedad de Fabry

Directory of Open Access Journals (Sweden)

Pablo Neumann

2013-10-01

Full Text Available La enfermedad de Fabry es un trastorno de almacenamiento lisosomal hereditario ligado al cromosoma X, ocasionado por el déficit de la enzima alfa galactosidasa A. El conocimiento sobre esta patología, y en particular su manejo médico, ha progresado notablemente en la última década, incluyendo el desarrollo de su tratamiento específico. La presente guía fue desarrollada por profesionales médicos de diversas especialidades involucrados en la atención de pacientes con enfermedad de Fabry. La discusión y análisis de las evidencias científicas disponibles, sumado a la experiencia de cada uno de los participantes, ha permitido desarrollar los conceptos vertidos en esta guía con el objetivo de brindar una herramienta útil para todos los profesionales que asisten a pacientes con enfermedad de Fabry.

Etiology of chronic skin lesions in subjects with peripheral arterial disease.

Science.gov (United States)

Chisari, G; Chisari, E M; Borzì, A M; Grasso, A; Chisari, C G

2018-01-01

Skin lesions can be defined as lesions that result in loss of tissues and their joints, and often this cutaneous skin process is a primary or secondary consequence of the structural changes in the skin itself. Subjects with peripheral arteripathies that develop chronic skin lesions in the lower extremities of the Western world are constantly increasing. We conducted a study on the etiologic incidence of chronic skin lesions in peripheral arterial disease CSLpa subjects in the lower limbs compared to subjects with chronic skin lesions CSL (controls). 30 subjects with peripheral atheropathies PA (22 F - 8 M mean age 74,5 ± 4,9) and with chronic skin lesions (CSLpa) in the lower limbs "A" group were admitted to our study according to a randomized and compared to 30 no peripheral atheropathies subjects (19 F-11 M, mean age 81,5 ± 7,3 - controls) group B with chronic skin lesions (CSL). These two groups "A" and "B" have been studied and compared on the basis of infectious etiology responsible for the infectious skin process. In the subjects of the "A" group we found a 12 positive assay of 40.0% of the examinations, while in the group "B" we achieved a total cultured positivity of 9 cases corresponding to 30.0% of the examinations . For the number of bacterial species identified for "A" group we obtained 3 mono microbial and 6 poly microbial bacteriological tests and for group "B" we observed 7 mono microbial and 2 poly microbial tests. All bacteriological isolates showed "in vitro" sensitivity to satisfactory ciprofloxacin with MICs range of 0.78-1.56mg/L. The data observed after 4 weeks after the amniotic membrane (MA) in the two study groups A and B were respectively the following: and for group A 50% scarring, 46.6% partial resolution and in one case worsening for the B-healing group in 63.3%, the partial resolution in the remaining 36.6. The data from this study show a different etiology between subjects with CSLpa than subjects with CSL. This phenomenon confirms

Systematic mapping review about costs and economic evaluations of skin conditions and diseases in the aged.

Science.gov (United States)

Lichterfeld-Kottner, Andrea; Hahnel, Elisabeth; Blume-Peytavi, Ulrike; Kottner, Jan

2017-02-01

Skin conditions and dermatological diseases associated with advanced age (e.g. fungal infection, dry skin and itch) receive increasingly attention in clinical practice and research. Cost and economic evaluations are important sources to inform priority setting and ressource allocation decisions in healthcare. The economics of skin conditions in aged populations has not been systematically reviewed so far. The aim of this mapping review was to summarize the economic evidence of selected skin conditions in the aged (65 + years). A mapping literature review and evidence summary was conducted. Searches were conducted in data bases Medline and Embase via OVID. Cinahl was searched using EBSCO. References lists of potential eligible studies, reviews, guidelines or other sources were screened for additional literature. For evaluation of methodological quality of full economic analyses the Consensus on Health Economic Criteria (CHEC) checklist was used. Database searches resulted in 1388 records. A total of 270 articles were read in full-text. Thirty-five publications were finally included in the data analysis reporting 38 economic analyses. Ten cost of illness analyses and 26 cost-effectiveness analyses reporting about pressure ulcers, skin tears, pressure ulcers, incontinence associated dermatitis and intertrigo/contact dermatitis/candidiasis treatment and prevention and onychomycosis testing were identified. Limited evidence indicated that low air loss beds were more cost effective than standard beds for prevention of pressure ulcers. Standardized skin care regimens seem to lower the incidence of pressure ulcers, skin tears and IAD but a cost saving effect was not always observed. Findings of this mapping review indicate that there is a paucity of high quality evidence regarding the economic impact of age-associated skin conditions and diseases. Substantial heterogeneity in terms of study design, evaluation perspective, time period, and way of cost estimation was

Storage of laser pulses in a Fabry-Perot optical cavity for high flux x-ray

International Nuclear Information System (INIS)

Takezawa, K.; Honda, Y.; Sasao, N.; Araki, S.; Higashi, Y.; Taniguchi, T.; Urakawa, J.; Nomura, M.; Sakai, H.

2004-01-01

We have a plan to produce a high flux x-ray for medical use by using a Fabry-Perot optical cavity in which the lower pulses from a mode-locked laser are stored and enhanced. In this plan, the X-ray is produced from the Compton scattering of electrons in a storage ring with the laser light in the optical cavity. In order to increase X-ray flux, high power laser light is necessary. We show the enhancement of the laser power from the model locked laser with a Fabry-Perot optical cavity. (author)

Associated cutaneous diseases in obese adult patients: a prospective study from a skin referral care center.

Science.gov (United States)

Al-Mutairi, Nawaf

2011-01-01

The aim of the present study was to determine the spectrum of skin diseases seen among adult obese patients referred to Farwaniya Hospital. A total of 437 overweight/obese subjects (200 men and 237 women) aged 18-74 years were enrolled in the study, which was conducted from October 2008 to November 2009. Demographic details such as age, sex, occupation, personal and family history of diabetes mellitus, hypertension, and obesity were recorded. A thorough examination was performed by an experienced dermatologist (N.A.M.). Blood investigations such as complete blood count, fasting and postprandial blood sugar levels, liver function tests, kidney function tests, lipid profile, and thyroid function tests were done for all patients in addition to hormonal assay and abdominal sonar to exclude polycystic ovary disease for indicated patients. Common skin diseases found among these patients were plantar hyperkeratosis: n = 197; acanthosis nigricans: n = 144; skin tags: n = 131; striae cutis distensae: n = 102; intertrigo: n = 97; acne vulgaris: n = 94. Diabetes mellitus was diagnosed in 87 patients, polycystic ovary syndrome/hyperandrogenism in 74 female patients, and hyperlipidemia in 209 patients. This study shows that certain dermatoses such as plantar hyperkeratosis, acanthosis nigricans, skin tags, striae cutis distensae, and intertrigo are more common among obese persons. Some, such as plantar hyperkeratosis, could serve as markers of obesity and its severity, while the presence of acanthosis nigricans and skin tags may point to underlying internal disease such as diabetes and polycystic ovary syndrome. Copyright © 2011 S. Karger AG, Basel.

Large-area Fabry-Perot modulator based on electro-optic polymers

DEFF Research Database (Denmark)

Benter, Nils; Bertram, Ralph Peter; Soergel, Elisabeth

2006-01-01

We present a large-area electro-optic Fabry-Perot modulator utilizing a photoaddressable bis-azo polymer placed between two dielectric mirrors with an open aperture of 2 cm. A modulation efficientcy of 1% at an effective modulation voltage of 20 V for a wavelength of 1.55 mymeter is demonstrated...

Later Onset Fabry Disease, Cardiac Damage Progress in Silence: Experience With a Highly Prevalent Mutation.

Science.gov (United States)

Hsu, Ting-Rong; Hung, Sheng-Che; Chang, Fu-Pang; Yu, Wen-Chung; Sung, Shih-Hsien; Hsu, Chia-Lin; Dzhagalov, Ivan; Yang, Chia-Feng; Chu, Tzu-Hung; Lee, Han-Jui; Lu, Yung-Hsiu; Chang, Sheng-Kai; Liao, Hsuan-Chieh; Lin, Hsiang-Yu; Liao, Tsan-Chieh; Lee, Pi-Chang; Li, Hsing-Yuan; Yang, An-Hang; Ho, Hui-Chen; Chiang, Chuan-Chi; Lin, Ching-Yuang; Desnick, Robert J; Niu, Dau-Ming

2016-12-13

Recently, several studies revealed a much higher prevalence of later onset Fabry disease (FD) than previously expected. It suggested that later onset FD might present as an important hidden health issue in certain ethnic or demographic populations in the world. However, the natural history of its phenotype has not been systemically investigated, especially the cardiac involvement. The study analyzed a large-scale newborn screening program for FD to understand the natural course of later onset FD. To date, 916,383 newborns have been screened for FD in Taiwan, including more than 1,200 individuals with the common, later onset IVS4+919G>A (IVS4) mutation. Echocardiography was performed in 620 adults with the IVS4 mutation to analyze the prevalence of left ventricular hypertrophy (LVH), and gadolinium-enhanced cardiac magnetic resonance imaging was performed in 129 patients with FD, including 100 IVS4 adults. LVH was observed in 67% of men and 32% of women older than 40 years. Imaging evidenced significant late gadolinium enhancement in 38.1% of IVS4 men and 16.7% of IVS4 women with the IVS4 mutation but without LVH. Seventeen patients underwent endomyocardial biopsies, which revealed significant globotriaosylceramide substrate accumulation in their cardiomyocytes. Significant cardiomyocyte substrate accumulation in IVS4 patients led to severe and irreversible cardiac fibrosis before development of LVH or other significant cardiac manifestations. Thus, it might be too late to start enzyme replacement therapy after the occurrence of LVH or other significant cardiac manifestations in patients with later onset FD. This study also indicated the importance of newborn screening for early detection of the insidious, ongoing, irreversible cardiac damage in patients with later onset FD. Copyright © 2016 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

Prevalence of and Risk Factors for Skin Diseases Among Army Personnel and Flood Victims During the 2011 Floods in Thailand.

Science.gov (United States)

Thongtaeparak, Wittaya; Pratchyapruit, Walai-Orn; Kotanivong, Settha; Sirithanakit, Nimit; Thunyaharn, Sudaluck; Rangsin, Ram; Chaikaew, Phachara; Wongyongsin, Pitee; Pinyoboon, Pongpak; Sutthiwan, Phatcharaphan; Theethansiri, Witchwaree; Janthayanont, Dusit; Mungthin, Mathirut

2016-08-01

This study aimed to determine the prevalence of and risk factors for skin problems among flood victims and army personnel during the 2011 floods in Thailand. To determine the prevalence of and risk factors for skin symptoms, standardized questionnaires were used to collect demographic data, current skin symptoms, history of water exposure, and sanitary behaviors. A certified dermatologist evaluated those who presented with skin problems and provided diagnoses. Univariate and multivariate analyses were performed to assess independent risk factors for skin symptoms. The most prevalent skin disease was irritant contact dermatitis. Flood victims showed a higher prevalence of skin symptoms compared with army personnel. Development of skin symptoms after exposure to floodwater was also observed earlier among flood victims. Having a history of skin diseases and delayed skin cleaning after exposure were also significant risk factors for the development of skin symptoms. This information might be used as guidelines for protecting military personnel and to educate the general public regarding flood disaster management. (Disaster Med Public Health Preparedness. 2016;10:570-575).

Folded Fabry-Perot quasi-optical ring resonator diplexer Theory and experiment

Science.gov (United States)

Pickett, H. M.; Chiou, A. E. T.

1983-01-01

Performance of folded Fabry-Perot quasi-optical ring resonator diplexers with different geometries of reflecting surfaces is investigated both theoretically and experimentally. Design of optimum surface geometry for minimum diffraction, together with the figure of merit indicating improvement in performance, are given.

Skin manifestations of growth hormone-induced diseases.

Science.gov (United States)

Kanaka-Gantenbein, Christina; Kogia, Christina; Abdel-Naser, Mohamed Badawy; Chrousos, George P

2016-09-01

The human skin is a well-organized organ bearing different types of cells in a well-structured interference to each other including epidermal and follicular keratinocytes, sebocytes, melanocytes, dermal papilla cells and fibroblasts, endothelial cells, sweat gland cells as well as nerves. Several hormones act on different cell types of the skin, while it is also considered an endocrine organ secreting hormones that act at several sites of the organism. GH receptors are found in almost all cell types forming the skin, while IGF-1 receptors' expression is restricted to the epidermal keratinocytes. Both Growth Hormone (GH) excess, as in the case of Acromegaly in adults, or Gigantism in growing children, and GH deficiency states lead to skin manifestations. In case of GH excess the main dermatological findings are skin thickening, coarsening of facial features, acrochordons, puffy hands and feet, oily skin and hyperhidrosis, while GH deficiency, on the contrary, is characterized by thin, dry skin and disorder of normal sweating. Moreover, special disorders associated with GH excess may have specific characteristics, as is the case of café-au-lait spots in Neurofibromatosis, or big café-au-lait skin hyperpigmented regions with irregular margins, as is the case in McCune-Albright syndrome. Meticulous examination of the skin may therefore contribute to the final diagnosis in cases of GH-induced disorders.

Imperfect pathogen detection from non-invasive skin swabs biases disease inference

Science.gov (United States)

DiRenzo, Graziella V.; Grant, Evan H. Campbell; Longo, Ana; Che-Castaldo, Christian; Zamudio, Kelly R.; Lips, Karen

2018-01-01

1. Conservation managers rely on accurate estimates of disease parameters, such as pathogen prevalence and infection intensity, to assess disease status of a host population. However, these disease metrics may be biased if low-level infection intensities are missed by sampling methods or laboratory diagnostic tests. These false negatives underestimate pathogen prevalence and overestimate mean infection intensity of infected individuals. 2. Our objectives were two-fold. First, we quantified false negative error rates of Batrachochytrium dendrobatidis on non-invasive skin swabs collected from an amphibian community in El Copé, Panama. We swabbed amphibians twice in sequence, and we used a recently developed hierarchical Bayesian estimator to assess disease status of the population. Second, we developed a novel hierarchical Bayesian model to simultaneously account for imperfect pathogen detection from field sampling and laboratory diagnostic testing. We evaluated the performance of the model using simulations and varying sampling design to quantify the magnitude of bias in estimates of pathogen prevalence and infection intensity. 3. We show that Bd detection probability from skin swabs was related to host infection intensity, where Bd infections information in advance, we advocate that the most cautious approach is to assume all errors are possible and to accommodate them by adjusting sampling designs. The modeling framework presented here improves the accuracy in estimating pathogen prevalence and infection intensity.

Skin autofluorescence is a predictor of cardiovascular disease in chronic kidney disease patients.

Science.gov (United States)

Furuya, Fumihiko; Shimura, Hiroki; Takahashi, Kazuya; Akiyama, Daiichiro; Motosugi, Ai; Ikegishi, Yukinobu; Haraguchi, Kazutaka; Kobayashi, Tetsuro

2015-02-01

Accelerated formation and tissue accumulation of advanced glycation end products (AGEs), reflecting cumulative glycemic and oxidative stress, occurs in age-related and chronic diseases like diabetes mellitus (DM) and renal failure, and contributes to vascular damage. Skin autofluorescence (AFR), a noninvasive measurement method, reflects tissue accumulation of AGEs. AFR has been reported to be an independent predictor of mortality in Caucasian hemodialysis patients. We assessed the relationship between levels of AFR and the prevalence of cardiovascular disease (CVD), and clarified the prognostic usefulness of skin AFR levels in Asian (non-Caucasian) hemodialysis (HD) patients. AFR was measured with an autofluorescence reader in 64 HD patients. Overall and cardiovascular mortality was monitored prospectively during the 3-year follow-up. During follow-up, CVD events occurred in 21 patients. The deaths of 10 HD patients were associated with CVD. Multivariate logistic regression analyses showed that initial AFR was an independent risk factor for de novo CVD in HD patients with or without diabetes. When patients were classified on the basis of AFR tertiles, Cochran-Armitage analysis demonstrated that the highest tertile of AFR level showed an increased odds ratio for the prevalence of CVD. These findings suggest that AFR levels can be used to detect the prevalence of CVD in HD patients with or without diabetes. © 2014 The Authors. Therapeutic Apheresis and Dialysis © 2014 International Society for Apheresis.

Extrinsic fiber-optic Fabry-Perot interferometer sensor for refractive index measurement of optical glass

International Nuclear Information System (INIS)

Chen Jihuan; Zhao Jiarong; Huang Xuguang; Huang Zhenjian

2010-01-01

A simple fiber-optic sensor based on Fabry-Perot interference for refractive index measurement of optical glass is investigated both theoretically and experimentally. A broadband light source is coupled into an extrinsic fiber Fabry-Perot cavity formed by the surfaces of a sensing fiber end and the measured sample. The interference signals from the cavity are reflected back into the same fiber. The refractive index of the sample can be obtained by measuring the contrast of the interference fringes. The experimental data meet with the theoretical values very well. The proposed technique is a new method for glass refractive index measurement with a simple, solid, and compact structure.

Parkinson disease and progressive supranuclear palsy: protein expression in skin.

Science.gov (United States)

Rodríguez-Leyva, Ildefonso; Chi-Ahumada, Erika G; Carrizales, Juan; Rodríguez-Violante, Mayela; Velázquez-Osuna, Salvador; Medina-Mier, Verónica; Martel-Gallegos, María G; Zarazúa, Sergio; Enríquez-Macías, Lourdes; Castro, Adriana; Calderón-Garcidueñas, Ana Laura; Jiménez-Capdeville, María E

2016-03-01

This study characterizes the expression of tau (p-tau) and α-synuclein (α-syn) by immunohistochemistry in the skin of three different populations: healthy control (HC), Parkinson disease (PD), and progressive supranuclear paralysis (PSP) subjects, with the purpose of finding a biomarker that could differentiate between subjects with PD and PSP. We evaluated the presence of p-tau and α-syn in a pilot study in the skin of three distinct groups of patients: 17 healthy subjects, 17 patients with PD, and 10 patients with PSP. Four millimeters punch biopsies were obtained from the occipital area and analyzed by immunohistochemistry using antibodies against α-syn and phosphorylated species of tau. PHF (paired helical filaments) antibody identifies p-tau in both normal and pathological conditions and AT8 recognizes p-tau characteristic of pathological conditions. Differences between the three groups were assessed by quantification of immunopositive areas in the epidermis. The immunopositivity pattern of p-tau and α-syn was significantly different among the three groups. Healthy subjects showed minimal staining using AT8 and α-syn. The PD group showed significantly higher α-syn and AT8 immunopositivity, while the PSP group only expressed higher AT8 immunopositivity than HCs. These data suggest that the skin reflects brain pathology. Therefore, immunohistochemical analysis of p-tau and α-syn in the skin can be useful for further characterization of PD and PSP.

Nanoscale alterations of corneocytes indicate skin disease

DEFF Research Database (Denmark)

Franz, J; Beutel, M; Gevers, K

2016-01-01

BACKGROUND: The skin barrier protects the organism against exogenous stressors and simultaneously prevents excessive water loss. While the delicate regulation of skin barrier is not completely understood, morphological and histological evaluation remain key features of clinical investigations. Here...... dermatitis, a common inflammatory skin condition. CONCLUSION: The presence of these corneocyte-nanostructures might be used as a diagnostic parameter for skin disorders - even in cases below a clinical threshold....

Occupational skin diseases and prevention among sanitation workers in China.

Science.gov (United States)

Yan, Yuehua; Wang, Xinggang; Wu, Jianbo; Xu, Li

2015-09-01

Little research has been focused on the health status or the occupational protection awareness of sanitation workers. The policy recommendations on the occupational safety and health of sanitation workers based on the scientific research are also insufficient in developing countries like China. To study the incidence of dermatoses and the relevance with occupational exposure, protection awareness and protective measures among sanitation workers for better management and protection of the sanitation workers. 273 sanitation workers and 113 administrative staff from 11 streets of Wuhan were recruited. Dermatological problems were evaluated and recorded by physical examination. Occupational exposure, protection awareness, the use of protective equipments and personal history of skin disease were assessed by questionnaires. Compared with administrative staff, sanitation workers had much more occupational dermatological problems and had a much higher rate of harmful ultraviolet ray exposure. Young sanitation workers were more aware of occupational self-protection and a relatively higher rate of them using protective equipments compared with old ones. Exposure to multiple health hazards and the poor use of protective equipments are related to skin diseases in sanitation workers. Prejob training of self-protection and the use of protective equipments are recommended.

Lysosomal Storage Diseases To date

OpenAIRE

HOFFMANN, Björn; MAYATEPEK, Ertan

2011-01-01

New therapeutic options and progress of approved therapies have made Lysosomal Storage Diseases (LSDs) one of the most exciting group of diseases. This review aims to summarize current achievements in these particular disorders and to give an outlook towards possible future treatment options. Enzyme replacement therapy is the gold standard for Gaucher disease, Fabry disease, Mucopolysaccharidosis type I, II, and VI, and for Pompe disease. Besides this, substrate reduction has been approved fo...

Skin

International Nuclear Information System (INIS)

Hunter, R.D.

1985-01-01

Malignant disease involving the skin represents a significant work load to the general radiotherapist and can involve interesting diagnostic and therapeutic decisions. Primary skin cancer is also relatively common and there is a need to provide an efficient service in which the first treatment is successful in the majority of patients. The reward for careful attention to technique is very considerable both in terms of clinical cancer control and functional results. Squamous cell carcinoma, basal cell carcinoma, and intra-epidermal carcinoma constitute the majority of the lesions dealt with clinically, but metastatic disease, lymphomas, and malignant melanomas are also referred regularly for opinions and may require radiotherapy. The general principle of the techniques of assessment and radiotherapeutic management to be described are equally applicable to any malignant skin tumour once the decision has been made to accept it for radiotherapy. Dosage and fractionation may have to be adjusted to allow for the nature of the disease process and the intent of the treatment

Consumer Quality Index Chronic Skin Disease (CQI-CSD): a new instrument to measure quality of care from the patient's perspective

NARCIS (Netherlands)

van Cranenburgh, O. D.; Krol, M. W.; Hendriks, M. C. P.; de Rie, M. A.; Smets, E. M. A.; de Korte, J.; Sprangers, M. A. G.

2015-01-01

Assessing quality of care from the patient's perspective is considered to be highly relevant. As a standardized instrument in dermatology was lacking, we developed a patient experience questionnaire regarding chronic skin disease care: the Consumer Quality Index Chronic Skin Disease (CQI-CSD). (i)

Primary care and pattern of skin diseases in a mediterranean island

Directory of Open Access Journals (Sweden)

Lyronis Ioannis

2006-01-01

Full Text Available Abstract Background In Greece where primary health care services are not fully developed, patients with simple or minor conditions have to attend to hospitals to be treated. We analysed the data of patients with cutaneous disorders attending the tertiary referral hospital on the Island of Crete, with the aim to identify the most common conditions that patients complain of, in order to define the areas where the education of General Practitioners in Dermatology must focus. Methods All patients attending the Dermatology ambulatory office in the Emergency Department of the University General Hospital of Heraklion from January 2003 to December 2003 were included in this retrospective analysis. The medical records of the patients (history, physical examination and laboratory investigations were analysed to ascertain the diagnosis and the management of cases. All patients were evaluated by qualified dermatologists. Results A total of 3715 patients attended the Dermatology Clinic. Most patients were young adults in the age group 21–40 years (38.4%, and the male to female ratio was 1 to 1.2. Allergic skin diseases, mostly dermatitis and urticaria (35.7% were the most common for attendance, followed by infectious diseases (26.1% and insect bites (10.2%. Inflammatory and autoimmune disorders accounted for 7.9% of the cases. Pruritus of unknown origin was diagnosed in 6.3% of patients. Skin tumors were detected in 2.7%. The management of the vast majority of cases (85.0% consisted of advice with or without a prescription, while only 4.8% of patients required admission. Conclusion Allergic and infectious skin diseases were the most common cutaneous diseases in patients attending this tertiary University hospital, while the management of most patients did not require specialised care. On the basis of the present data, the training of primary health care providers in Dermatology should emphasize these common conditions, with the aim of improving primary

Fabry-Perot observations of [FeX] in the Cygnus Loop and IC443

International Nuclear Information System (INIS)

Ballet, J.; Rothenflug, R.; Soutoul, A.; Caplan, J.

1988-01-01

The authors present the first results of an observational program of SNRs in the coronal lines of [FeX] and [FeXIV] using Fabry--Perot spectrophotometer. These support previously published brightnesses

Sarcoptic mange: a zoonotic ectoparasitic skin disease.

Science.gov (United States)

Bandi, Kiran Madhusudhan; Saikumar, Chitralekha

2013-01-01

A 56-year old man attended the Dermatology Outpatients Department with the complaint of a localized, extremely itchy, erythematous papular lesion of acute onset on the ventral aspect of the right thigh. The patient was referred to the Microbiology Lab for the microscopic detection of the fungal elements. The KOH mount from the skin scrapings showed no fungal elements, but it showed the mites of Sarcopetes scabiei mange. The Sarcoptic Mange is noteworthy because of the fact that it is a zoonotic disease which can easily be passed on to humans. A close contact with infested pet dogs was considered as the main predisposing factor in this case. The response to the antiscabietic treatment was dramatic.

A tunable Fabry-Perot filter (λ/18) based on all-dielectric metamaterials

Science.gov (United States)

Ao, Tianhong; Xu, Xiangdong; Gu, Yu; Jiang, Yadong; Li, Xinrong; Lian, Yuxiang; Wang, Fu

2018-05-01

A tunable Fabry-Perot filter composed of two separated all-dielectric metamaterials is proposed and numerically investigated. Different from metallic metamaterials reflectors, the all-dielectric metamaterials are constructed by high-permittivity TiO2 cylinder arrays and exhibit high reflection in a broadband of 2.49-3.08 THz. The high reflection is attributed to the first and second Mie resonances, by which the all-dielectric metamaterials can serve as reflectors in the Fabry-Perot filter. Both the results from phase analysis method and CST simulations reveal that the resonant frequency of the as-proposed filter appears at 2.78 THz, responding to a cavity with λ/18 wavelength thickness. Particularly, the resonant frequency can be adjusted by changing the cavity thickness. This work provides a feasible approach to design low-loss terahertz filters with a thin air cavity.

Ophthalmic experience over 10 years in an observational nationwide Danish cohort of Fabry patients with access to enzyme replacement

DEFF Research Database (Denmark)

Fledelius, Hans C.; Sandfeld, Lisbeth; Rasmussen, Åse Krogh

2015-01-01

, respectively, and phlebopathy in 22, although generally without evidence of loss of vessel wall integrity. Systemic vascular lesions with or without loss of function were recorded for kidney (n = 23), heart (n = 17) and brain (n = 7), and an association was suggested between nephropathy and abnormal morphology...... parameters in 37. Compared to other Fabry series, two of 39 patients with serious unilateral occlusive retinal disease may appear a high number. The presence of retinal tortuosity is discussed, possibly reflecting haemodynamic events related to vessel wall deposits, but could also be 'constitutional...

Occupational skin cancer and precancer

Directory of Open Access Journals (Sweden)

Fifinela Raissa

2016-12-01

Full Text Available Occupational skin cancer and precancerous lesions are skin disorders caused by exposure to chemical carcinogens such as polycyclic hydrocarbons and arsenic, or radiation, such as ultraviolet light and ionizing light in the workplace. Annual increase in skin cancer incidence is believed to be related to various factors such as frequent intense sunlight exposure (i.e. at work, recreational activities, and sun-tanning habit, ozone depletion, an increase in number of geriatric population, and an increase of public awareness in skin cancer. The most common occupational skin cancers are basal cell carcinoma, squamous cell carcinoma, and melanoma. Examples of occupational precancerous lesion of the skin are actinic keratosis and Bowen’s disease. Particular diagnostic criteria to diagnose occupational diseases has been developed. Early detection of occupational skin cancer and precancerous lesion is necessary. An effective prevention program consists of primary prevention such as prevention of hazardous material exposure, secondary prevention such as early detection of disease for early intervention, and tertiary prevention such as minimizing long-term impact of the disease.

Development of a quantitative assessment method of pigmentary skin disease using ultraviolet optical imaging.

Science.gov (United States)

Lee, Onseok; Park, Sunup; Kim, Jaeyoung; Oh, Chilhwan

2017-11-01

The visual scoring method has been used as a subjective evaluation of pigmentary skin disorders. Severity of pigmentary skin disease, especially melasma, is evaluated using a visual scoring method, the MASI (melasma area severity index). This study differentiates between epidermal and dermal pigmented disease. The study was undertaken to determine methods to quantitatively measure the severity of pigmentary skin disorders under ultraviolet illumination. The optical imaging system consists of illumination (white LED, UV-A lamp) and image acquisition (DSLR camera, air cooling CMOS CCD camera). Each camera is equipped with a polarizing filter to remove glare. To analyze images of visible and UV light, images are divided into frontal, cheek, and chin regions of melasma patients. Each image must undergo image processing. To reduce the curvature error in facial contours, a gradient mask is used. The new method of segmentation of front and lateral facial images is more objective for face-area-measurement than the MASI score. Image analysis of darkness and homogeneity is adequate to quantify the conventional MASI score. Under visible light, active lesion margins appear in both epidermal and dermal melanin, whereas melanin is found in the epidermis under UV light. This study objectively analyzes severity of melasma and attempts to develop new methods of image analysis with ultraviolet optical imaging equipment. Based on the results of this study, our optical imaging system could be used as a valuable tool to assess the severity of pigmentary skin disease. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

[Active search for leprosy and other skin diseases in school children from Agua de Dios, Colombia].

Science.gov (United States)

Rodríguez, Gerzaín; González, Rosalba; Gonzalez, Deysy; Granados, Carolina; Pinto, Rafael; Herrera, Hilda; Gutiérrez, Luisa F; Hernández, Elkin; López, Fernando; Gómez, Yenny

2007-01-01

Actively searching for leprosy, other skin diseases and BCG vaccination scars amongst school children from Agua de Dios, the municipality having the highest prevalence of leprosy in Colombia. A clinical examination of the children was carried out by nurses, interns, general practitioners and experts on leprosy. Skin smear tests and skin biopsies were performed when the clinical findings suggested leprosy. Anti-phenolic glycolipid antibodies in blood were determined in special cases. 86 % of the 2 844 school children were examined; 833 had skin diseases and 16 % of these required evaluation by specialists. Four new cases of paucibacillary leprosy, two indeterminate and two primary polyneuritic cases were found. Pediculosis capitis, pityriasis alba, tinea versicolor, hypopigmented nevus, insect bites and miliaria were frequently detected. BCG vaccination scars were absent in 387 children; following several logistical problems, they were vaccinated. Four children had signs of childhood abuse. An 11-year-old girl presented hypopigmented mycosis fungoides. All diseases and conditions found were treated. The community received information regarding the results, emphasising the importance of an early diagnosis of leprosy. The incidence of leprosy found (16/10,000) was 123 times higher than the rest of the country's incidence. It is advisable to continue clinical examinations in Agua de Dios and research into risk factors for acquiring leprosy.

A Green Fabry-Perot Cavity for Jefferson Lab Hall A Compton Polarimetry

International Nuclear Information System (INIS)

Rakhman, Abdurahim; Souder, Paul; Nanda, Sirish

2009-01-01

A green laser (CW, 532 nm) based Fabry-Perot cavity for high precision Compton Polarimetry is under development in Hall A of the Jefferson Laboratory. In this paper, we present the principle and the preliminary studies for our test cavity.

SKIN CARE IN INFANTS

Directory of Open Access Journals (Sweden)

I. N. Zakharova

2014-01-01

Full Text Available Human skin is a complex organ in its structure. Numerous functions of the skin may be impaired in its pathology. Anatomical and physiological characteristics of the skin in children predispose to common diseases of the skin. Diaper dermatitis is one of the most common skin diseases during infancy and childhood. Diapered skin is exposed to friction and excessive hydration, has a higher pH than nondiapered skin, and is repeatedly soiled with feces that contains enzymes with high irritation potential for the skin. Diaper dermatitis may vary in clinical severity and course. Therapeutically, frequent diaper changes and adequate skin care are most important. Appropriate skin care can help to prevent the occurrence of diaper dermatitis and to speed up the healing of affected skin. This includes frequent diaper changes and aeration, gentle cleansing, and the use of a barrier cream. For the treatment of diaper dermatitis agents selected depending on the presence and severity of complications. For prevention and treatment of uncomplicated diaper dermatitis effective means of containing dexpantenol.

Age and Spatial Peculiarities of Non-neoplastic Diseases of the Skin and Subcutaneous Tissue in Kazakhstan, 2003–2015

OpenAIRE

IGISSINOV, Nurbek; KULMIRZAYEVA, Dariyana; BILYALOVA, Zarina; AKPOLATOVA, Gulnur; MAMYRBAYEVA, Marzya; ZHUMAGALIYEVA, Galina

2017-01-01

Background: Arrangement of effective management aimed at improving dermatological services and consistent care of patients with skin diseases depends on understanding the epidemiological situation. Methods: This retrospective study presents an epidemiological assessment of non-neoplastic skin and subcutaneous tissue diseases in Kazakhstan registered in 2003–2015. Results: The yearly incidence rate of the diseases among the whole population was in average 3,341.8±121.1 per 100000 population. T...

Risks of Skin Cancer Screening

Science.gov (United States)

... factors increase or decrease the risk of skin cancer. Skin cancer is a disease in which malignant (cancer) ... following PDQ summaries for more information about skin cancer: Skin Cancer Prevention Skin Cancer Treatment Melanoma Treatment Genetics ...

Enzyme replacement therapy for Anderson-Fabry disease: A complementary overview of a Cochrane publication through a linear regression and a pooled analysis of proportions from cohort studies.

Science.gov (United States)

El Dib, Regina; Gomaa, Huda; Ortiz, Alberto; Politei, Juan; Kapoor, Anil; Barreto, Fellype

2017-01-01

Anderson-Fabry disease (AFD) is an X-linked recessive inborn error of glycosphingolipid metabolism caused by a deficiency of alpha-galactosidase A. Renal failure, heart and cerebrovascular involvement reduce survival. A Cochrane review provided little evidence on the use of enzyme replacement therapy (ERT). We now complement this review through a linear regression and a pooled analysis of proportions from cohort studies. To evaluate the efficacy and safety of ERT for AFD. For the systematic review, a literature search was performed, from inception to March 2016, using Medline, EMBASE and LILACS. Inclusion criteria were cohort studies, patients with AFD on ERT or natural history, and at least one patient-important outcome (all-cause mortality, renal, cardiovascular or cerebrovascular events, and adverse events) reported. The pooled proportion and the confidence interval (CI) are shown for each outcome. Simple linear regressions for composite endpoints were performed. 77 cohort studies involving 15,305 participants proved eligible. The pooled proportions were as follows: a) for renal complications, agalsidase alfa 15.3% [95% CI 0.048, 0.303; I2 = 77.2%, p = 0.0005]; agalsidase beta 6% [95% CI 0.04, 0.07; I2 = not applicable]; and untreated patients 21.4% [95% CI 0.1522, 0.2835; I2 = 89.6%, plinear regression showed that Fabry patients receiving agalsidase alfa are more likely to have higher rates of composite endpoints compared to those receiving agalsidase beta. Agalsidase beta is associated to a significantly lower incidence of renal, cardiovascular and cerebrovascular events than no ERT, and to a significantly lower incidence of cerebrovascular events than agalsidase alfa. In view of these results, the use of agalsidase beta for preventing major organ complications related to AFD can be recommended.

Skin condition and its relationship to systemic inflammation in chronic obstructive pulmonary disease.

Science.gov (United States)

Majewski, Sebastian; Pietrzak, Anna; Tworek, Damian; Szewczyk, Karolina; Kumor-Kisielewska, Anna; Kurmanowska, Zofia; Górski, Paweł; Zalewska-Janowska, Anna; Piotrowski, Wojciech Jerzy

2017-01-01

The systemic (extrapulmonary) effects and comorbidities of chronic obstructive pulmonary disease (COPD) contribute substantially to its burden. The supposed link between COPD and its systemic effects on distal organs could be due to the low-grade systemic inflammation. The aim of this study was to investigate whether the systemic inflammation may influence the skin condition in COPD patients. Forty patients with confirmed diagnosis of COPD and a control group consisting of 30 healthy smokers and 20 healthy never-smokers were studied. Transepidermal water loss, stratum corneum hydration, skin sebum content, melanin index, erythema index, and skin temperature were measured with worldwide-acknowledged biophysical measuring methods at the volar forearm of all participants using a multifunctional skin physiology monitor. Biomarkers of systemic inflammation, including high-sensitivity C-reactive protein (hsCRP), interleukin-6 (IL-6), and tumor necrosis factor α (TNF-α), were measured in serum using commercially available enzyme-linked immunosorbent assays. There were significant differences between COPD patients and healthy never-smokers in skin temperature, melanin index, sebum content, and hydration level ( P skin measured. The mean levels of hsCRP and IL-6 in serum were significantly higher in COPD patients and healthy smokers in comparison with healthy never-smokers. There were significant correlations between skin temperature and serum hsCRP ( R =0.40; P =0.02) as well as skin temperature and serum IL-6 ( R =0.49; P =0.005) in smokers. Stratum corneum hydration correlated significantly with serum TNF-α ( R =0.37; P =0.01) in COPD patients. Differences noted in several skin biophysical properties and biomarkers of systemic inflammation between COPD patients, smokers, and healthy never-smokers may suggest a possible link between smoking-driven, low-grade systemic inflammation, and the overall skin condition.

Response of a New Low-Coherence Fabry-Perot Sensor to Hematocrit Levels in Human Blood

Directory of Open Access Journals (Sweden)

Małgorzata Jędrzejewska-Szczerska

2014-04-01

Full Text Available In this paper, a low-coherence Fabry-Perot sensor with a spectrally measured signal processing response to the refractive index of liquids is presented. Optical fiber sensors are potentially capable of continuous measuring hematocrit levels in blood. Low-coherence Fabry-Perot interferometric sensors offer a robust solution, where information about the measurand is encoded in the full spectrum of light reflected from the sensing interferometer. The first step in the research on such sensor is the assessment of its performance under favorable conditions, i.e., using blood samples from healthy volunteers tested in vitro. Such an experiment was conducted using a sensor comprising a superluminescent diode source, an optical spectrum analyzer working as the detection setup and a sensing Fabry-Perot interferometer providing high interference contrast. The response of this sensor was recorded for several samples and compared with the reference laboratory method. The coefficient of determination (R2 for a linear relationship between the results given by both methods was 0.978 and the difference between these results was less than 1%. The presented results suggest that further research into the performance of the sensor is merited.

Experimental study of neutron-optical potential with absorption using Fabry-Perot magnetic resonator

International Nuclear Information System (INIS)

Hino, M.; Tasaki, S.; Ebisawa, T.; Kawai, T.; Achiwa, N.; Yamazaki, D.

1999-01-01

Complete text of publication follows. Recently spin precession angles of neutrons tunneling and non-tunneling through [Permalloy45(PA)-germanium(Ge)]-PA Fabry-Perot magnetic resonator have been observed [1]. The spin precession angle is well reproduced by the theoretical phase difference of up and down spin neutron wave function based on one-dimensional Schroedinger equation using optical potential model [2]. Spin precession angle and transmission probability of neutron through PA-(Ge/Gd)-PA Fabry-Perot magnetic resonator are presented, where the gap(Ge/Gd) layer consists of germanium and gadolinium atoms, and the optical potential model for magnetic multilayer system with absorption is discussed. (author) [1] M. Hino, et al., Physica B 241-243, 1083 (1998).; [2] S. Yamada, et al., Annu. Rep. Res. Reactor Inst. Kyoto Univ. 11, 8 (1978)

Gap junction diseases of the skin.

NARCIS (Netherlands)

Steensel, M.A.M. van

2004-01-01

Gap junctions are intercellular channels that allow the passage of water, ions, and small molecules. They are involved in quick, short-range messaging between cells and are found in skin, nervous tissue, heart, and muscle. An increasing number of hereditary skin disorders appear to be caused by

Optical power equalization for upstream traffic with injection-locked Fabry-Perot lasers in TDM-PON

Science.gov (United States)

Huang, Ting-Tsan; Sheu, Lih-Gen; Chi, Sien

2010-10-01

An optical power equalization of upstream traffic in time-division-multiplexed passive optical network (TDM-PON) based on injection-locked Fabry-Perot lasers has been experimentally investigated. The upstream transmitters with stable spectrum are achieved by using an external injection light source in the optical line terminal (OLT). The different upstream powers can be equalized by injection locking a Fabry-Perot laser diode (FP-LD) biased below threshold current in OLT. The dynamic upstream power range from - 8.5 to - 19.5 db m is reduced to a 1.6 dB maximal power variation, when the uplink signal is directly modulated at 1.25 Gb/s.

Skin Autofluorescence and Subclinical Atherosclerosis in Mild to Moderate Chronic Kidney Disease: A Case-Control Study.

Science.gov (United States)

Sánchez, Enric; Betriu, Àngels; Arroyo, David; López, Carolina; Hernández, Marta; Rius, Ferran; Fernández, Elvira; Lecube, Albert

2017-01-01

Advanced glycation end-products (AGEs) are increased and predict mortality in patients with chronic kidney disease (CKD) who are undergoing hemodialysis, irrespective of the presence of type 2 diabetes. However, little information exits about the relationship between AGEs and subclinical atherosclerosis at the early stages of CKD. A case-control study was performed including 87 patients with mild-to-moderate stages of CKD (glomerular filtration rate from 89 to 30 ml/min/per 1.73m2) and 87 non-diabetic non-CKD subjects matched by age, gender, body mass index, and waist circumference. Skin autofluorescence (AF), a non-invasive assessment of AGEs, was measured. The presence of atheromatous disease in carotid and femoral arteries was evaluated using vascular ultrasound, and vascular age and SCORE risk were estimated. Patients with mild-to-moderate stages of CKD showed an increase in skin AF compared with control subjects (2.5±0.6 vs. 2.2±0.4 AU, pskin AF value >2.0 AU was accompanied by a 3-fold increased risk of detecting the presence of an atheromathous plaque (OR 3.0, 95% CI 1.4-6.5, p = 0.006). When vascular age was assessed through skin AF, subjects with CKD were almost 12 years older than control subjects (70.3±25.5 vs. 58.5±20.2 years, p = 0.001). Skin AF was negatively correlated with glomerular filtration rate (r = -0.354, pskin AF (R2 = 0.289, pSkin AF is elevated in patients with mild-to-moderate CKD compared with control subjects. This finding may be independently associated with the glomerular filtration rate and the presence of subclinical atheromatous disease. Therefore, the use of skin AF may help to accurately evaluate the real cardiovascular risk at the early stages of CKD.

Role of the vitamin D3 pathway in healthy and diseased skin--facts, contradictions and hypotheses.

Science.gov (United States)

Lehmann, Bodo

2009-02-01

Irradiation of human keratinocytes with UVB (280-320 nm) in vitro and in vivo activates the metabolism of 7-dehydrocholesterol to hormonally active calcitriol. The production of calcitriol in the skin strongly depends on the photosynthesis of vitamin D(3) which is biologically inactive in the first instance. Vitamin D(3) serves as the starting substrate for two subsequent enzymatic hydroxylation steps in epidermal keratinocytes. Both the amount of vitamin D(3) and the activity of anabolic and catabolic vitamin D hydroxylases determine the cutaneous level of calcitriol. The hormonally active metabolite of vitamin D(3) regulates a huge number of genes in keratinocytes, and thus acts in an autocrine and/or paracrine manner. This local pathway of vitamin D(3) is unique, but its relevance for healthy and diseased skin is widely unknown, yet. Experimental findings implicate several questions: (1) Is UVB-induced formation of calcitriol involved in regulation of growth and differentaition of epidermal cells as well as immunological and skin protective processes? (2) What endogenous and exogenous factors including drugs affect the cutaneous vitamin D(3) pathway? From a therapeutical point of view, it has been known for a long time that topical application of calcitriol and its analogs can improve hyperproliferative skin diseases like psoriasis. In spite of many encouraging studies in recent years, the fields of the routinely therapeutical application of calcitriol or vitamin D analogs in dermatology (e.g. treatment of immunological, inflammatory, malignancies and infectious skin diseases) have not been intensified. Why is that?

Skin layer mechanics

NARCIS (Netherlands)

Geerligs, M.

2010-01-01

The human skin is composed of several layers, each with an unique structure and function. Knowledge about the mechanical behavior of these skin layers is important for clinical and cosmetic research, such as the development of personal care products and the understanding of skin diseases. Until

Distribution and degradation of albumin in extensive skin disease

DEFF Research Database (Denmark)

Worm, Anne-Marie; Taaning, E; Rossing, N

1981-01-01

The distribution and degradation of albumin were determined in twelve patients with extensive skin disease and in ten control subjects by measuring the metabolic turnover and transcapillary escape of 132 I-labelled albumin. The ratio of intravascular to total mass of albumin was normal. Thus...... the observed hypoalbuminaemia and the low intravascular mass reflect a reduced mass of total body albumin. The rate of synthesis was normal, but the transcapillary escape rate reflecting the microvascular leakiness to macromolecules, and the fractional disappearance rate were significantly higher...

The dermatologic intimacy scale: quantitatively measuring the impact of skin disease on intimacy.

Science.gov (United States)

Malakouti, Mona; Brown, Gabrielle E; Leon, Argentina; Wang, Eva; Naegeli, April N; Edson-Heredia, Emily; Levin, Ethan; Koo, John Y M

2017-06-01

Patient-reported outcome measures are increasingly utilized in dermatology to assess the impact of skin disease on quality of life. Despite recognition of the influence of skin disease on intimate relationships, an instrument to assess intimacy has not been developed. The objective of this study was to create the dermatologic intimacy scale (DIS) and administer the prototype to a patient population. A group of healthcare providers at the University of California San Francisco created the DIS prototype. A total of 1676 psoriasis patients of an online community were invited to complete a cross-sectional survey including demographic information, DIS, body surface area (BSA) and anatomical involvement. A total of 1109 patients completed the survey in its entirety. Patients with moderate-to-severe psoriasis (BSA ≥3%) had a higher DIS score overall and for each individual question than patients with mild disease (BSA intimacy. Interpretation is limited by patient response rate, as patients with or without intimacy issues may be more or less likely to respond. Further analysis is necessary for validation and interpretation.

Skin Complications of IBD

Science.gov (United States)

... Home > Resources > Skin Complications of IBD Go Back Skin Complications of IBD Email Print + Share After arthritis, ... about 5% of people with inflammatory bowel disease. SKIN DISORDERS COMMONLY SEEN IN IBD ERHTHEMA NODOSUM The ...

Refining the ideas of "ethnic" skin.

Science.gov (United States)

Torres, Vicente; Herane, Maria Isabel; Costa, Adilson; Martin, Jaime Piquero; Troielli, Patricia

2017-01-01

Skin disease occur worldwide, affecting people of all nationalities and all skin types. These diseases may have a genetic component and may manifest differently in specific population groups; however, there has been little study on this aspect. If population-based differences exist, it is reasonable to assume that understanding these differences may optimize treatment. While there is a relative paucity of information about similarities and differences in skin diseases around the world, the knowledge-base is expanding. One challenge in understanding population-based variations is posed by terminology used in the literature: including ethnic skin, Hispanic skin, Asian skin, and skin of color. As will be discussed in this article, we recommend that the first three descriptors are no longer used in dermatology because they refer to nonspecific groups of people. In contrast, "skin of color" may be used - perhaps with further refinements in the future - as a term that relates to skin biology and provides relevant information to dermatologists.

The structure, function, and importance of ceramides in skin and their use as therapeutic agents in skin-care products.

Science.gov (United States)

Meckfessel, Matthew H; Brandt, Staci

2014-07-01

Ceramides (CERs) are epidermal lipids that are important for skin barrier function. Much research has been devoted to identifying the numerous CERs found in human skin and their function. Alterations in CER content are associated with a number of skin diseases such as atopic dermatitis. Newer formulations of skin-care products have incorporated CERs into their formulations with the goal of exogenously applying CERs to help skin barrier function. CERs are a complex class of molecules and because of their growing ubiquity in skin-care products, a clear understanding of their role in skin and use in skin-care products is essential for clinicians treating patients with skin diseases. This review provides an overview of the structure, function, and importance of skin CERs in diseased skin and how CERs are being used in skin-care products to improve or restore skin barrier function. Copyright © 2014 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

Optimal Design of an Hourglass in-Fiber Air Fabry-Perot Microcavity—Towards Spectral Characteristics and Strain Sensing Technology

Directory of Open Access Journals (Sweden)

Qi Wang

2017-06-01

Full Text Available An hourglass in-fiber air microcavity Fabry-Perot interferometer is proposed in this paper, and its second reflecting surface of in-fiber microcavity is designed to be a concave reflector with the best curvature radius in order to improve the spectral characteristics. Experimental results proved that the extinction ratio of Fabry-Perot interferometer with cavity length of 60 μm and concave reflector radius of 60 μm is higher than for a rectangular Fabry-Perot interferometer with cavity length of 60 μm (14 dB: 11 dB. Theory and numerical simulation results show that the strain sensitivity of sensor can be improved by reducing the microcavity wall thickness and microcavity diameter, and when the in-fiber microcavity length is 40 μm, the microcavity wall thickness is 10 μm, the microcavity diameter is 20 μm, and the curvature radius of reflective surface II is 50 μm, the interference fringe contrast of is greater than 0.97, an Axial-pull sensitivity of 20.46 nm/N and resolution of 1 mN can be achieved in the range of 0–1 N axial tension. The results show that the performance of hourglass in-fiber microcavity interferometer is far superior to that of the traditional Fabry-Perot interferometer.

Localization of sclerotic-type chronic graft-vs-host disease to sites of skin injury: potential insight into the mechanism of isomorphic and isotopic responses.

Science.gov (United States)

Martires, Kathryn J; Baird, Kristin; Citrin, Deborah E; Hakim, Fran T; Pavletic, Steven Z; Cowen, Edward W

2011-09-01

The mechanisms responsible for the variable manifestations of chronic cutaneous graft-vs-host disease (cGVHD) are poorly understood. Localization of sclerotic-type chronic graft-vs-host disease to sites of skin injury (isomorphic and isotopic responses), a recognized phenomenon in morphea, suggests a potential common pathway between cGVHD and other sclerotic skin conditions. Four cases of sclerotic-type cGVHD developed at the site of disparate skin injuries (ionizing radiotherapy, repeated needle sticks, central catheter site, and varicella-zoster virus infection). We review the spectrum of previously reported cases of sclerotic and nonsclerotic cGVHD relating to external forces on the skin. Localization of sclerotic-type cGVHD may occur after many types of skin injury, including UV and ionizing radiotherapy, needle sticks, viral infection, and pressure or friction. Recognition of this phenomenon may be helpful for the early diagnosis of sclerotic disease. Recent insights into the immunological consequences of minor skin injury may provide important clues to the underlying pathogenesis of cGVHD-mediated skin disease.

The feline skin microbiota: The bacteria inhabiting the skin of healthy and allergic cats

Science.gov (United States)

Diesel, Alison; Patterson, Adam P.; Meason-Smith, Courtney; Johnson, Timothy J.; Mansell, Joanne; Suchodolski, Jan S.; Rodrigues Hoffmann, Aline

2017-01-01

Background The skin is inhabited by a multitude of microorganisms. An imbalance of these microorganisms is associated with disease, however, the causal relationship between skin microbiota and disease remains unknown. To describe the cutaneous bacterial microbiota of cats and determine whether bacterial dysbiosis occurs on the skin of allergic cats, the skin surfaces on various regions of 11 healthy cats and 10 allergic cats were sampled. Methodology/Principal findings Genomic DNA was extracted from skin swabs and sequenced using primers that target the V4 region of the bacterial 16S rRNA. The bacterial sequences from healthy cats revealed that there are differences in species diversity and richness between body sites and different epithelial surfaces. Bacterial communities preferred body site niches in the healthy cats, however, the bacterial communities on allergic cat skin tended to be more unique to the individual cat. Overall, the number of bacterial species was not significantly different between the two health status groups, however, the abundances of these bacterial species were different between healthy and allergic skin. Staphylococcus, in addition to other taxa, was more abundant on allergic skin. Conclusions/Significance This study reveals that there are more bacterial species inhabiting the skin of cats than previously thought and provide some evidence of an association between dysbiosis and skin disease. PMID:28575016

On-Chip High-Finesse Fabry-Perot Microcavities for Optical Sensing and Quantum Information

Directory of Open Access Journals (Sweden)

Mohammad H. Bitarafan

2017-07-01

Full Text Available For applications in sensing and cavity-based quantum computing and metrology, open-access Fabry-Perot cavities—with an air or vacuum gap between a pair of high reflectance mirrors—offer important advantages compared to other types of microcavities. For example, they are inherently tunable using MEMS-based actuation strategies, and they enable atomic emitters or target analytes to be located at high field regions of the optical mode. Integration of curved-mirror Fabry-Perot cavities on chips containing electronic, optoelectronic, and optomechanical elements is a topic of emerging importance. Micro-fabrication techniques can be used to create mirrors with small radius-of-curvature, which is a prerequisite for cavities to support stable, small-volume modes. We review recent progress towards chip-based implementation of such cavities, and highlight their potential to address applications in sensing and cavity quantum electrodynamics.

On-Chip High-Finesse Fabry-Perot Microcavities for Optical Sensing and Quantum Information.

Science.gov (United States)

Bitarafan, Mohammad H; DeCorby, Ray G

2017-07-31

For applications in sensing and cavity-based quantum computing and metrology, open-access Fabry-Perot cavities-with an air or vacuum gap between a pair of high reflectance mirrors-offer important advantages compared to other types of microcavities. For example, they are inherently tunable using MEMS-based actuation strategies, and they enable atomic emitters or target analytes to be located at high field regions of the optical mode. Integration of curved-mirror Fabry-Perot cavities on chips containing electronic, optoelectronic, and optomechanical elements is a topic of emerging importance. Micro-fabrication techniques can be used to create mirrors with small radius-of-curvature, which is a prerequisite for cavities to support stable, small-volume modes. We review recent progress towards chip-based implementation of such cavities, and highlight their potential to address applications in sensing and cavity quantum electrodynamics.

Intraoperative Diagnosis of Anderson-Fabry Disease in Patients With Obstructive Hypertrophic Cardiomyopathy Undergoing Surgical Myectomy.

Science.gov (United States)

Cecchi, Franco; Iascone, Maria; Maurizi, Niccolò; Pezzoli, Laura; Binaco, Irene; Biagini, Elena; Fibbi, Maria Laura; Olivotto, Iacopo; Pieruzzi, Federico; Fruntelata, Ana; Dorobantu, Lucian; Rapezzi, Claudio; Ferrazzi, Paolo

2017-10-01

Diagnostic screening for Anderson-Fabry cardiomyopathy (AFC) is performed in the presence of specific clinical red flags in patients with hypertrophic cardiomyopathy (HCM) older than 25 years. However, left ventricular outflow tract obstruction (LVOTO) has been traditionally considered an exclusion criteria for AFC. To examine a series of patients diagnosed with HCM and severe basal LVOTO undergoing myectomy in whom the diagnosis of AFC was suspected by the cardiac surgeon intraoperatively and confirmed by histological and genetic examinations. This retrospective analysis of patients undergoing surgical septal reduction strategies was conducted in 3 European tertiary referral centers for HCM from July 2013 to December 2016. Patients with a clinical diagnosis of obstructive HCM referred for surgical management of LVOTO were observed for at least 18 months after the procedure (mean [SD] follow-up, 33 [14] months). Etiology of patients with HCM who underwent surgical myectomy. From 2013, 235 consecutive patients with a clinical diagnosis of HCM underwent septal myectomy. The cardiac surgeon suspected a storage disease in 3 patients (1.3%) while inspecting their heart samples extracted from myectomy. The mean (SD) age at diagnosis for these 3 patients was 42 (4) years; all were male. None of the 3 patients presented with extracardiac features suggestive of AFC. All patients showed asymmetrical left ventricular hypertrophy, with maximal left ventricular thickness in the basal septum (19-31 mm), severe basal LVOTO (70-120 mm Hg), and left atrial dilatation (44-57 mm). Only 1 patient presented with late gadolinium enhancement on cardiovascular magnetic resonance at the right ventricle insertion site. The mean (SD) age at surgical procedure was 63 (5) years. On tactile sensation, the surgeon felt a spongy consistency of the surgical samples, different from the usual stony-elastic consistency typical of classic HCM, and this prompted histological examinations. Histology

Microwave radiometric aircraft observations of the Fabry-Perot interference fringes of an ice-water system

Science.gov (United States)

Harrington, R. F.; Swift, C. T.; Fedors, J. C.

1980-01-01

Airborne stepped-frequency microwave radiometer (SFMR) observations of the Fabry-Perot interference fringes of ice-water systems are discussed. The microwave emissivity at normal incidence of a smooth layered dielectric medium over a semi-infinite dielectric medium is examined for the case of ice over water as a function of ice thickness and attenuation coefficient, and the presence of quarter-wavelength oscillations in emissivity as the ice thickness and frequency are varied is pointed out. Experimental observations of pronounced quarter-wavelength oscillations in radiometric brightness temperature due to the Fabry-Perot interference fringes over smooth sea ice and lake ice varying in roughness as the radiometer frequencies were scanned are then presented.

[A case of skin autograft for skin ulcers in ichthyosis].

Science.gov (United States)

Li, Shiwei; Yang, Xiaodong; Liu, Lijun; Tang, Xueyang

2017-10-28

Ichthyosis refers to a group of skin diseases characterized by abnormal keratinization of the epidermis, resulting in dryness, roughness and scale of the skin. A girl with ichthyosis, who presented with skin ulcers and infection of the right dorsal foot, was admitted to our department. An autologous razor-thin skin grafting procedure was performed to repair the skin ulcers after debridement and vacuum sealing drain. After 8 months of follow-up, both the donor and recipient site healed well and there were no newly formed ulcers or infections. Although the skin quality of ichthyosis is poor, the lesion area can still be used as donor or recipient cite.

Skin Cancer Awareness and Sun Protection Behavior Before and Following Treatment Among Skin Cancer-Treated Patients.

Science.gov (United States)

Abedini, Robabeh; Nasimi, Maryam; Nourmohammad Pour, Pedram; Etesami, Ifa; Al-Asiri, Safa; Tohidinik, Hamid Reza

2017-11-15

There is little known about illness perception in patients with skin tumors. We conducted this study to investigate Iranian patients' understanding of skin tumors, and to evaluate their sun-protective behavior changes after treatment of skin cancer. Patients with a skin biopsy of basal cell carcinoma were asked to complete questionnaires. A total of 110 patients were enrolled in the study. Patients were mostly referred to our tumor clinic from rural areas. At the skin cancer perception investigation, 63% of patients did not consider their disease as a long-lasting situation. Besides, 45.4% of patients consider their illness as a serious condition which significantly affecting their lives. Our patients had a strong belief in treatment control (81%) and 81% of them also described worries about their skin cancer. The leading causes of skin cancer as assumed by patients were: history of skin cancer (37.4%), poor medical care in the past (36.4%), extreme sun exposure (31.5%), and lack of sun protection (27.5%). In regard to sun-protective behavior after treatment of skin cancer, 55.4% of patients showed no changes or even negative change in their sun-protective behavior, But 44.5% of the patients changed their sun-protective behavior in a positive way which was statically significant (P ≤ 0.001). Our study demonstrates how our patients with skin cancer perceive their disease and we need to educate our patients, considering diseases' aspects, causes and symptoms. This is of great value as dermatologists should be aware of patients' perceptions of their disease in order to improve patients' knowledge through educating more about different aspects of disease.

Age and Spatial Peculiarities of Non-neoplastic Diseases of the Skin and Subcutaneous Tissue in Kazakhstan, 2003-2015.

Science.gov (United States)

Igissinov, Nurbek; Kulmirzayeva, Dariyana; Bilyalova, Zarina; Akpolatova, Gulnur; Mamyrbayeva, Marzya; Zhumagaliyeva, Galina

2017-11-01

Arrangement of effective management aimed at improving dermatological services and consistent care of patients with skin diseases depends on understanding the epidemiological situation. This retrospective study presents an epidemiological assessment of non-neoplastic skin and subcutaneous tissue diseases in Kazakhstan registered in 2003-2015. The yearly incidence rate of the diseases among the whole population was in average 3,341.8±121.1 per 100000 population. This represents 4835.0±156.1 for children, 5503.2±141.8 for adolescents and 2646.6±106.7 for adults per 100000 inhabitants. Space and time incidence rate was evaluated according to the administrative division. The overall trend decreased to 3.5% in children to 2.8% in adolescents to 1.9%, and in adults to 3.9%. Considerable variation in rates was seen across the country, with highest rates in East Kazakhstan, Mangystau and Aktobe regions, the lowest - in Atyrau and South-Kazakhstan regions. Non-neoplastic diseases of skin and subcutaneous tissue continue to be an urgent public health problem, especially among children in many regions of Kazakhstan.

Patient reported outcomes in chronic skin diseases: eHealth applications for clinical practice

NARCIS (Netherlands)

van Cranenburgh, O.D.

2016-01-01

The overall aim of this thesis was to examine and integrate patient reported outcomes (PROs) in dermatological care. In part I, we specifically examined health-related quality of life (HRQoL), treatment satisfaction, and experiences with care in patients with chronic skin diseases. Our results

Self-reported skin morbidity in Denmark

DEFF Research Database (Denmark)

Miller, Iben Marie; Zarchi, Kian; Ellervik, Christina

2016-01-01

Skin diseases are thought to be common in the general population. In 2004, a cross-sectional study in Norway, using a validated questionnaire for 18,770 individuals, revealed a high prevalence of skin diseases in the general population. To describe the prevalence of self-reported skin morbidities...... questionnaire. In total, 17.2% self-reported skin complaints. The most prominent self-reported skin complaint was itch with an overall prevalence of 6.5%. The skin morbidity most influenced by age was pimples. There was a uniform pattern showing fewer skin complaints with increasing education. Women reported...... skin morbidities more frequently than men. Participants in employment reported fewer skin morbidities compared to unemployed participants. Skin morbidities in Denmark are common, and the distribution of prevalence estimates in the Danish population parallel those of the Norwegian population, although...

Psoriasis-like skin disease and arthritis caused by inducible epidermal deletion of Jun proteins.

Science.gov (United States)

Zenz, Rainer; Eferl, Robert; Kenner, Lukas; Florin, Lore; Hummerich, Lars; Mehic, Denis; Scheuch, Harald; Angel, Peter; Tschachler, Erwin; Wagner, Erwin F

2005-09-15

Psoriasis is a frequent, inflammatory disease of skin and joints with considerable morbidity. Here we report that in psoriatic lesions, epidermal keratinocytes have decreased expression of JunB, a gene localized in the psoriasis susceptibility region PSORS6. Likewise, inducible epidermal deletion of JunB and its functional companion c-Jun in adult mice leads (within two weeks) to a phenotype resembling the histological and molecular hallmarks of psoriasis, including arthritic lesions. In contrast to the skin phenotype, the development of arthritic lesions requires T and B cells and signalling through tumour necrosis factor receptor 1 (TNFR1). Prior to the disease onset, two chemotactic proteins (S100A8 and S100A9) previously mapped to the psoriasis susceptibility region PSORS4, are strongly induced in mutant keratinocytes in vivo and in vitro. We propose that the abrogation of JunB/activator protein 1 (AP-1) in keratinocytes triggers chemokine/cytokine expression, which recruits neutrophils and macrophages to the epidermis thereby contributing to the phenotypic changes observed in psoriasis. Thus, these data support the hypothesis that epidermal alterations are sufficient to initiate both skin lesions and arthritis in psoriasis.