Clinical polymorphism of cystinosis encephalopathy. Results of treatment with cysteamine

Broyer, M.; Tête, Marie-Josèphe; Guest, G.; Berthélémé, J. P.; Labrousse, François; Poisson, M

doi:10.1007/bf01799350

Cited by 73 publications

(63 citation statements)

References 23 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Despite a growing understanding of the genetic, pathophysiological and therapeutic aspects of cystinosis [1][2][3][4][5][6][7][36][37][38], only limited information is available on the longterm developmental and psychosocial outcome of this disease. This study provides further information on intellectual and motor performance (IP and MP), quality of life (QOL) and psychosocial adjustment (PA) in children and adolescents with cystinosis.…”

Section: Discussionmentioning

confidence: 99%

Intellectual and motor performance, quality of life and psychosocial adjustment in children with cystinosis

et al. 2009

View full text Add to dashboard Cite

Cystinosis is a rare multisystemic progressive disorder mandating lifelong medical treatment. Knowledge on the intellectual and motor functioning, health-related quality of life and psychosocial adjustment in children with cystinosis is limited. We have investigated nine patients (four after renal transplantation) at a median age of 9.7 years (range 5.3-19.9 years). Intellectual performance (IP) was analysed with the Wechsler Intelligence Scale for Children-III (seven children) and the Kaufman Assessment Battery for Children (two children). Motor performance (MP) was evaluated using the Zurich Neuromotor Assessment Test, and quality of life (QOL) was studied by means of the Netherlands Organization for Applied Scientific Research Academical Medical Center Child Quality of Life Questionnaire. Psychosocial adjustment was assessed by the Child Behavior Checklist. The overall intelligence quotient (IQ) of our patient cohort (median 92, range 71-105) was significantly lower than that of the healthy controls (p=0.04), with two patients having an IQ<85. Verbal IQ (93, range 76-118) was significantly higher than performance IQ (90, range 68-97; p=0.03). The MP was significantly below the norm for pure motor, pegboard and static balance, as well as for movement quality. The patients' QOL was normal for six of seven dimensions (exception being positive emotions), whereas parents reported significant impairment in positive emotions, autonomy, social and cognitive functions. Significant disturbance was noted in terms of psychosocial adjustment. Based on the results from our small patient cohort, we conclude that intellectual and motor performance, healthrelated QOL and psychosocial adjustment are significantly impaired in children and adolescents with cystinosis.

show abstract

Section: Discussionmentioning

confidence: 99%

Intellectual and motor performance, quality of life and psychosocial adjustment in children with cystinosis

et al. 2009

View full text Add to dashboard Cite

show abstract

“…Based on our patient's revesible clinical and radiological findings, we excluded cystinosis encephalopathy while evaluating the differential diagnosis. 2 In our case report, we presented Cranial CT and MR images of a pediatric patient with Cystinosis in PRES and saw that Cystinosis did not change these radiologic findings. Posterior reversible encephalopathy syndrome should be considered in differential diagnosis of pediatric patients with cystinosis admitting with convulsion and encephalopathy.…”

Section: Discussionmentioning

confidence: 86%

“…2 Magnetic resonance imaging (MRI) in patients with cystinosis shows frequently cerebral/cerebellar atrophy with ventriculomegaly. 3 Posterior reversible encephalopathy syndrome (PRES) is a clinic-radiographic entity of heterogeneous etiologies that are grouped together because of similar findings on neuro-imaging and associated symptom complex of headache, vision loss, altered mentation, and seizures.…”

Section: A Pediatric Case Presented With Posterior Reversible Encephamentioning

confidence: 99%

A Pediatric Case Presented with Posterior Reversible Encephalopathy Due to Cystinosis: Case Report

Özçelik¹,

Perk²,

Kılıç³

et al. 2016

Turkiye Klinikleri J Pediatr

View full text Add to dashboard Cite

“…Yapısına girdiği glutatiyondan dolayı sisteaminin hücre savunma sistemlerinde bir rol oynayabileceği düşünülmektedir. Sisteamin vücutta hipotaurine dönüşerek idrarla atıl-maktadır [21][22][23] . Bu araştırmada sisteaminin farelerde 3-MC ile indüklenen genotoksisite üzerine koruyucu etkisinin olup, olmadığı araştırılmıştır.…”

Section: Introductionunclassified

Farelerde 3-Metilkolantren İle İndüklenen Fibrosarkoma Üzerine Sisteaminin Etkileri: Genotoksisitenin Araştırılması

Aksu¹,

Doğan²,

Gül³

et al. 2013

Kafkas Univ Vet Fak Derg

View full text Add to dashboard Cite

Bu çalışmada, fare kemik iliği hücrelerinde 3-Metilkolantrenin genotoksisitesine karşı sisteaminin etkisi araştırıldı. Deneyde beyaz erkek fareler (Mus musculus albino) kullanıldı. Fareler her grupta 15 adet olacak şekilde beş gruba ayrıldı. Birinci grup negatif kontrol grubu olarak tutuldu. İkinci gruba susam yağı (0.2 ml, deri altı), üçüncü gruba sisteamin (%0.1 suda oral ad libitum), dördüncü gruba 3-Metilkolantren (1 mg 3-Metilkolantren/0.2 ml susam yağı çözeltisinden 0.2 ml deri altı yolla), beşinci gruba 3-Metilkolantren (1 mg 3-Metilkolantren/0.2 ml susam yağı çözeltisinden 0.2 ml deri altı yolla) ve sisteamin (%0.1 oranında suda hazırlanmış sisteamin çözeltisinden oral yolla ad libitum olarak verildi. Bütün gruplardaki hayvanlar 4 ay sonra eter anestezisi eşliğinde servikal dislokasyonla ötanazi edildi. Her gruptan 8 adet farenin femur kemik iliği hücrelerinde mitotik aktivite ile mikronükleus testi kullanılarak genotoksik ve sitotoksik etkiler belirlendi. 3-Metilkolantren'in mikronükleuslu polikromatik eritrositlerin sayılarında çoğalma ve kemik iliği hücrelerinde sitotoksik etki meydana getirdiği tespit edildi. Ayrıca mitotik aktiviteyi düşürdüğü gözlendi. Bu etkiler istatistiksel açıdan önemli bulundu (P<0.01). Sisteaminin ise genotoksik ve sitotoksik etki yapmadığı belirlendi. 3-Metilkolantren ile birlikte uygulanan sisteaminin yalnız başına verilen 3-Metilkolantrene göre mikronükleuslu polikromatik eritrosit sayılarında önemli derecede düşüş, mitotik aktivitede ise artış yaptığı gözlendi. Araştırma sonucunda sisteaminin farelerde 3-Metilkolantren ile indüklenen genotoksisiteye karşı koruyucu etki gösterdiği belirlendi. Anahtar sözcükler: 3-Metilkolantren, Sisteamin, GenotoksisiteThe Effects of Cysteamine on the Mice with the 3-Methylcholanthrene -Induced Fibrosarcoma:Investigation of the Genotoxicity SummaryIn this study, the effect of cysteamine against the genotoxicity of 3 Methylcholanthrene's in the cell of mouse bone marrow was examined. In the experiment total of 75 white male mice were used. They were split into 5 groups. First group was kept as negative control group. Sesame oil to the second group (0.2 ml, subcutaneous), cysteamine to the third group (oral ad libitum 0.1% in water), 3-Methylcholanthrene to the forth group (1 mg 3-Methylcholanthrene /0.2 ml from the sesame oil solution 0.2 ml, subcutaneously) and cysteamine (ad libitum via oral route from the solution of cysteamine that was prepared in water at the rate of 0.1%) was given. Four months later animals in all groups were euthanasied with cervical dislocation (with ether anesthesia). Genotoxic and cytotoxic effects were defined by using mitotic activty and micronucleus in the cells of femur bone marrow of 8 mice from each group. It was determined that 3-Methylcholanthrene has brought about reproduction in the numbers of micronucleus polychromatic erythrocytes and cytotoxic effects in the cells of bone marrow. Furthermore, it was observed that it has slow down the mitotic activity. These effects were statistically considered as si...

show abstract

Clinical polymorphism of cystinosis encephalopathy. Results of treatment with cysteamine

Cited by 73 publications

References 23 publications

Intellectual and motor performance, quality of life and psychosocial adjustment in children with cystinosis

Intellectual and motor performance, quality of life and psychosocial adjustment in children with cystinosis

A Pediatric Case Presented with Posterior Reversible Encephalopathy Due to Cystinosis: Case Report

Farelerde 3-Metilkolantren İle İndüklenen Fibrosarkoma Üzerine Sisteaminin Etkileri: Genotoksisitenin Araştırılması

Contact Info

Product

Resources

About