المؤلفون: Fitzgerald, Lucy Anne, Dudley, Jan, Inward, Carol, Tizard, Jane

مصطلحات موضوعية: case-report

الوصف: We describe the case of a patient with steroid sensitive nephrotic syndrome who is admitted with headaches, eye pain and reduced visual acuity. Despite thorough investigation no cause for the pain is identified. On a subsequent admission for recurrence of her symptoms her intraocular pressures are measured, which are markedly raised. Immediate medical treatment, as well as prompt weaning of her steroid therapy avoided the need for trabeculectomy surgery. We review this case and the literature surrounding this condition in children.

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العلاقة: http://casereports.bmj.com/cgi/content/short/2012/sep07_1/bcr2012006955Test; http://dx.doi.org/10.1136/bcr-2012-006955Test

الإتاحة: https://doi.org/10.1136/bcr-2012-006955Test
http://casereports.bmj.com/cgi/content/short/2012/sep07_1/bcr2012006955Test

المؤلفون: van Stralen, Karlijn, Krischock, Leah, Schaefer, Franz, Verrina, Enrico, Groothoff, Jaap, Jager, Kitty, Tizard, Jane, Harambat, J., van Stralen, K.J., Espinosa, L., Groothoff, J.W., Hulton, S.A., Jankauskiene, A., Schaefer, F., Verrina, E., Jager, K.J., Cochat, P., Ruggiero, Barbara, Gianviti, Alessandra, Benetti, Elisa, Peruzzi, Licia, Barbano, Gian Carlo, Corona, Fabrizia, Ventura, Giovanna, Pecoraro, Carmine, Murer, Luisa, Ghiggeri, Gian Marco, Pennesi, Marco, Edefonti, Alberto, Coppo, Rosanna, Emma, Francesco, Bonthuis, Marjolein, van Stralen, Karlijn J., Jager, Kitty J., Musumeci, Antonino, Graziano, Ugo, Nuzzi, Francesca, Ferraiuolo, Salvatore, Severino, Giovanni, Malgieri, Gabriele, Minale, Bruno

مصطلحات موضوعية: Friday 24 June 2011

الوصف: INTRODUCTION AND AIMS: Anaemia is a universal problem amongst children on peritoneal (PD) or hemodialysis (HD), due mainly to poor or complete lack of erythropoietin synthesis by the diseased kidneys, and an absolute and functional iron deficiency. The use of iron therapy and erythropoiesis stimulating agents (ESA) is recommended on dialysis to achieve optimal haemoglobin levels based on age. METHODS: To determine the prevalence and risk factors for anaemia in Europe we conducted several analyses on data from children registered in the ESPN/ERA-EDTA Registry, a large European registry collecting data on children in Europe on renal replacement therapy (RRT). Information on haemoglobin levels (hb) was available for a total of 2,147 children on dialysis between 1 month and 18 years of age, providing 5030 measurements from 17 countries. Analyses were performed using linear and logistic mixed model analyses and were adjusted for age, sex, cause of renal failure, duration and modality of RRT. Anaemia was defined using current guidelines according to age. RESULTS: Mean Hb level was 11.0 g/dl and 90.9% of the patients were on ESA. Of all patients, 9.3% had severely low Hb levels (<8.0 g/dl for those under 2 years, <8.5 g/dl for those ≥2), while 35.9% were mildly anaemic (8-10 g/dl and 8.5-11.0 resp.). Severly anaemic patients had lower median ferritin levels, and used less iron compared with those with higher Hb levels. Hb levels increased with age, were higher in PD compared with HD patients, and among those being on RRT for a longer period. There were no differences between males and females. Both very low and high ferritin levels were associated with lower Hb levels. Patients with congenital anomalies of the kidney and urinary tract (CAKUT) had the highest Hb levels, while the lowest were seen amongst those with metabolic disorders, specifically oxalosis (0.8 g/dl lower). Furthermore, patients with Finnish type nephropathy (FN) (0.4 g/dl lower) or a kidney tumour (1.7 g/dl lower) often requiring bilateral ...

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العلاقة: http://ckj.oxfordjournals.org/cgi/content/short/4/suppl_2/4.s2.6Test; http://dx.doi.org/10.1093/ndtplus/4.s2.6Test

الإتاحة: https://doi.org/10.1093/ndtplus/4.s2.6Test
http://ckj.oxfordjournals.org/cgi/content/short/4/suppl_2/4.s2.6Test

المؤلفون: Kramer, Anneke, Stel, Vianda S., Tizard, Jane, Verrina, Enrico, Rönnholm, Kai, Pálsson, Runólfur, Maxwell, Heather, Jager, Kitty J.

مصطلحات موضوعية: Dialysis

الوصف: Background. Little is known about the group of children on renal replacement therapy (RRT) who reach the age of 18 years and are transferred from paediatric to adult nephrology services. The aim of this study was to describe patient demographics, primary renal diseases, treatment history and determine the risk factors for mortality of these young adults who started RRT in childhood. Methods. We included 1777 young adults who had started RRT during childhood and turned 18 between 1985 and 2004 from nine European renal registries submitting data to the ERA-EDTA Registry. The chi-square test was used to test differences between patient groups and Cox regression analysis to examine patient survival. Results. Young adults who began RRT during childhood increased the total number of adult patients starting RRT by 1.5% per annum. The annual number of children on RRT turning 18, per million persons (Pmarp) reaching the age of 18 years, increased between 1985 and 2004 from 71 to 116. Over time, there was an increase in the percentage of young adults who started RRT at a very young age, a greater number of children with hypoplasia/dysplasia and cystic kidneys and more young adults who started RRT with peritoneal dialysis or pre-emptive transplantation. The unadjusted 5-year patient survival from the 18th birthday was 95.1% (95% CI 93.9–96.0). The average life expectancy was 63 years for young adults with a functioning graft and 38 years for those remaining on dialysis. Conclusions. The number Pmarp of young adults on RRT has increased over time. Their characteristics and treatment history changed. Their survival prospects are good; however, transplant recipients have an expected remaining lifetime that is at least twice as high as for young adults on dialysis.

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العلاقة: http://ndt.oxfordjournals.org/cgi/content/short/24/3/926Test; http://dx.doi.org/10.1093/ndt/gfn542Test

الإتاحة: https://doi.org/10.1093/ndt/gfn542Test
http://ndt.oxfordjournals.org/cgi/content/short/24/3/926Test

المؤلفون: Mcdonagh, Janet, Smith, Eve M D, Foster, Helen E, Gray, William K, Taylor-Robinson, David, Beresford, Michael W, McDonagh, Janet, Tizard, Jane, Gardner-Medwin, Janet, Davidson, Joyce, Pilkington, Clarissa, Rangaraj, Satyapal, Wilkinson, Nick, Riley, Phil, Ioannou, John, Sinha, Manish, Armon, Kate, Bailey, Kathryn

المصدر: Mcdonagh , J , Smith , E M D , Foster , H E , Gray , W K , Taylor-Robinson , D , Beresford , M W , McDonagh , J , Tizard , J , Gardner-Medwin , J , Davidson , J , Pilkington , C , Rangaraj , S , Wilkinson , N , Riley , P , Ioannou , J , Sinha , M , Armon , K & Bailey , K 2014 , ' Predictors of access to care in juvenile systemic lupus erythematosus: evidence from the UK JSLE Cohort Study. ' , Rheumatology ....

مصطلحات موضوعية: JSLE, access to care, cohort, diagnosis, juvenile systemic lupus erythematosus

الوصف: OBJECTIVE: The objective of this study was to investigate factors that may influence the interval between symptom onset and JSLE diagnosis. METHODS: Data from all patients recruited to the UK JSLE Cohort Study between 2006 and 2011 and meeting ACR criteria for lupus were analysed. Variables associated with time between symptom onset and diagnosis were identified using correlation tests. Linear regression was used to identify independent predictors of access to care. RESULTS: Two hundred and fifty-seven children with JSLE were included in the analysis (216 females, 41 males, ratio 5.3:1). The median time from symptom onset to diagnosis was 0.4 years (range 0.0-14.1 years, interquartile range 0.2-1.4). A linear regression model identified being of African or Caribbean origin (P = 0.006), Asian (P = 0.045), referred by a paediatrician (P = 0.047) or having nephritis (P = 0.045) at presentation as independent predictors of shorter time to diagnosis. Being of Caribbean or Asian origin, compared with white, was associated with a 56% and 37% reduction in geometric mean time to diagnosis, respectively. Similarly, being referred to paediatric rheumatology by a paediatrician or having nephritis at presentation was also associated with a 32% and 36% reduction in geometric mean time to diagnosis, respectively. CONCLUSION: Within this national UK cohort, ethnic origin, initial source of referral and having lupus nephritis at presentation were strong predictors of the interval to establishing a diagnosis of JSLE.

الإتاحة: https://doi.org/10.1093/rheumatology/ket402Test
https://research.manchester.ac.uk/en/publications/45d10cec-9a20-46e5-b8f8-89cb93737ed8Test

المؤلفون: Mcdonagh, Janet, Chiewchengchol, Direkrit, Murphy, Ruth, Morgan, Thomas, Edwards, Steven W, Leone, Valentina, Friswell, Mark, Pilkington, Clarissa, Tullus, Kjell, Rangaraj, Satyapal, McDonagh, Janet E, Gardner-Medwin, Janet, Wilkinson, Nick, Riley, Phil, Tizard, Jane, Armon, Kate, Sinha, Manish D, Ioannou, Yiannis, Mann, Rebecca, Bailey, Kathryn, Davidson, Joyce, Baildam, Eileen M, Pain, Clare E, Cleary, Gavin, McCann, Liza J, Beresford, Michael W

المصدر: Mcdonagh , J , Chiewchengchol , D , Murphy , R , Morgan , T , Edwards , S W , Leone , V , Friswell , M , Pilkington , C , Tullus , K , Rangaraj , S , McDonagh , J E , Gardner-Medwin , J , Wilkinson , N , Riley , P , Tizard , J , Armon , K , Sinha , M D , Ioannou , Y , Mann , R , Bailey , K , Davidson , J , Baildam , E M , Pain , C E , Cleary , ....

مصطلحات موضوعية: ACR criteria, disease severity, juvenile-onset systemic lupus erythematosus, major organ involvement, mucocutaneous manifestations, pBILAG-2004 index, skin involvement

الوصف: OBJECTIVE: To determine whether mucocutaneous manifestations are associated with major organ involvement in a UK national cohort of juvenile-onset SLE (JSLE) patients. METHODS: JSLE patients (n = 241) from 15 different centres whose diagnosis fulfilled four or more of the ACR criteria were divided into two groups: those with at least one ACR mucocutaneous criterion (ACR skin feature positive) and those without (ACR skin feature negative) at diagnosis. The relative frequency of skin involvement was described by the paediatric adaptation of the 2004 British Isles Lupus Assessment Group (pBILAG-2004) index. RESULTS: One hundred and seventy-nine patients (74%) had ACR-defined skin involvement with no significant demographic differences compared with those without. ACR skin feature negative patients showed greater haematological (84% vs 67%), renal (43% vs 26%) (P <0.05) and neurological (16% vs 4%) involvement (P = 0.001). Forty-two per cent of ACR skin feature negative patients had skin involvement using pBILAG-2004, which included maculopapular rash (17%), non-scaring alopecia (15%), cutaneous vasculitis (12%) and RP (12%). ACR skin feature negative patients with moderate to severe skin involvement by pBILAG-2004 showed greater renal and haematological involvement at diagnosis and over the follow-up period (P <0.05). Higher immunosuppressive drug use in the skin feature negative group was demonstrated. CONCLUSION: Patients who fulfil the ACR criteria but without any of the mucocutaneous criteria at diagnosis have an increased risk of major organ involvement. The pBILAG-2004 index has shown that other skin lesions may go undetected using the ACR criteria alone, and these lesions show a strong correlation with disease severity and major organ involvement.

الإتاحة: https://doi.org/10.1093/rheumatology/keu137Test
https://research.manchester.ac.uk/en/publications/f5aa93a3-aa3e-4419-977f-f1f09e24b4a7Test

المؤلفون: Mcdonagh, Janet, Watson, Louise, Leone, Valentina, Pilkington, Clarissa, Tullus, Kjell, Rangaraj, Satyapal, McDonagh, Janet E, Gardner-Medwin, Janet, Wilkinson, Nick, Riley, Phil, Tizard, Jane, Armon, Kate, Sinha, Manish D, Ioannou, Yiannis, Archer, Neil, Bailey, Kathryn, Davidson, Joyce, Baildam, Eileen M, Cleary, Gavin, McCann, Liza J, Beresford, Michael W

المصدر: Mcdonagh , J , Watson , L , Leone , V , Pilkington , C , Tullus , K , Rangaraj , S , McDonagh , J E , Gardner-Medwin , J , Wilkinson , N , Riley , P , Tizard , J , Armon , K , Sinha , M D , Ioannou , Y , Archer , N , Bailey , K , Davidson , J , Baildam , E M , Cleary , G , McCann , L J & Beresford , M W 2012 , ' Disease activity, severity, and damage in the UK ....

الوصف: OBJECTIVE: The UK Juvenile-Onset Systemic Lupus Erythematosus (JSLE) Cohort Study is a multicenter collaborative network established with the aim of improving the understanding of juvenile SLE. The present study was undertaken to describe the clinical manifestations and disease course in patients with juvenile SLE from this large, national inception cohort. METHODS: Detailed data on clinical phenotype were collected at baseline and at regular clinic reviews and annual followup assessments in 232 patients from 14 centers across the UK over 4.5 years. Patients with SLE were identified according to the American College of Rheumatology (ACR) SLE classification criteria. The present cohort comprised children with juvenile SLE (n=198) whose diagnosis fulfilled ≥4 of the ACR criteria for SLE. RESULTS: Among patients with juvenile SLE, the female:male sex distribution was 5.6:1 and the median age at diagnosis was 12.6 years (interquartile range 10.4-14.5 years). Male patients were younger than female patients (P

الإتاحة: https://doi.org/10.1002/art.34410Test
https://research.manchester.ac.uk/en/publications/7966358f-4e2f-422e-b99d-d373fa860a5aTest

المؤلفون: Kim, Jon Jin, Goodship, Tim H. J., Tizard, Jane, Inward, Carol

المصدر: Pediatric Nephrology ; volume 26, issue 11, page 2073-2076 ; ISSN 0931-041X 1432-198X

مصطلحات موضوعية: Nephrology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1007/s00467-011-1944-4Test

المؤلفون: Platt, Caroline, Inward, Carol, McGraw, Mary, Dudley, Jan, Tizard, Jane, Burren, Christine, Saleem, Moin A.

المصدر: Pediatric Nephrology ; volume 25, issue 1, page 143-148 ; ISSN 0931-041X 1432-198X

مصطلحات موضوعية: Nephrology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1007/s00467-009-1294-7Test

المؤلفون: Clewing, J Marietta, Fryssira, Helen, Goodman, David, Smithson, Sarah F, Sloan, Emily A, Lou, Shu, Huang, Yan, Choi, Kunho, Lücke, Thomas, Alpay, Harika, André, Jean-Luc, Asakura, Yumi, Biebuyck-Gouge, Nathalie, Bogdanovic, Radovan, Bonneau, Dominique, Cancrini, Caterina, Cochat, Pierre, Cockfield, Sandra, Collard, Laure, Cordeiro, Isabel, Cormier-Daire, Valerie, Cransberg, Karlien, Cutka, Karel, Deschenes, Georges, Ehrich, Jochen H H, Fründ, Stefan, Georgaki, Helen, Guillen-Navarro, Encarna, Hinkelmann, Barbara, Kanariou, Maria, Kasap, Belde, Kilic, Sara Sebnem, Lama, Guiliana, Lamfers, Petra, Loirat, Chantal, Majore, Silvia, Milford, David, Morin, Denis, Ozdemir, Nihal, Pontz, Bertram F, Proesmans, Willem, Psoni, Stavroula, Reichenbach, Herbert, Reif, Silke, Rusu, Cristina, Saraiva, Jorge M, Sakallioglu, Onur, Schmidt, Beate, Shoemaker, Lawrence, Sigaudy, Sabine, Smith, Graham, Sotsiou, Flora, Stajic, Natasa, Stein, Anja, Stray-Pedersen, Asbjørg, Taha, Doris, Taque, Sophie, Tizard, Jane, Tsimaratos, Michel, Wong, Newton A C S, Boerkoel, Cornelius F

الوصف: Schimke immunoosseous dysplasia (SIOD), which is characterized by prominent spondyloepiphyseal dysplasia, T-cell deficiency, and focal segmental glomerulosclerosis, is a panethnic autosomal recessive multisystem disorder with variable expressivity. Biallelic mutations in switch/sucrose nonfermenting (swi/snf) &!ndash;related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1) are the only identified cause of SIOD. However, among 72 patients from different families, we identified only 38 patients with biallelic mutations in the coding exons and splice junctions of the SMARCAL1 gene. This observation, the variable expressivity, and poor genotype-phenotype correlation led us to test several hypotheses including modifying haplotypes, oligogenic inheritance, or locus heterogeneity in SIOD. Haplotypes associated with the two more common mutations, R820H and E848X, did not correlate with phenotype. Also, contrary to monoallelic SMARCAL1 coding mutations indicating oligogenic inheritance, we found that all these patients did not express RNA and/or protein from the other allele and thus have biallelic SMARCAL1 mutations. We hypothesize therefore that the variable expressivity among patients with biallelic SMARCAL1 mutations arises from environmental, genetic, or epigenetic modifiers. Among patients without detectable SMARCAL1 coding mutations, our analyses of cell lines from four of these patients showed that they expressed normal levels of SMARCAL1 mRNA and protein. This is the first evidence for nonallelic heterogeneity in SIOD. From analysis of the postmortem histopathology from two patients and the clinical data from most patients, we propose the existence of endophenotypes of SIOD. Hum Mutat 0, 1-11, 2006. Published 2006, Wiley-Liss, Inc. ; status: published

العلاقة: Human Mutation; https://lirias.kuleuven.be/handle/123456789/21045Test; http://dx.doi.org/10.1002/humu.20432Test

الإتاحة: https://doi.org/10.1002/humu.20432Test
https://lirias.kuleuven.be/handle/123456789/21045Test

المؤلفون: Soothill, Peter W., Bartha, Jose L., Tizard, Jane

المصدر: American Journal of Obstetrics and Gynecology ; volume 188, issue 4, page 1107-1108 ; ISSN 0002-9378

مصطلحات موضوعية: Obstetrics and Gynecology

الإتاحة: https://doi.org/10.1067/mob.2003.179Test
https://api.elsevier.com/content/article/PII:S0002937802713203?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002937802713203?httpAccept=text/plainTest