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Cystinosis

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https://www.readbyqxmd.com/read/28643139/cysteamine-revisited-repair-of-arginine-to-cysteine-mutations
#1
REVIEW
L Gallego-Villar, L Hannibal, J Häberle, B Thöny, T Ben-Omran, G K Nasrallah, Al-N Dewik, W D Kruger, H J Blom
Cysteamine is a small aminothiol endogenously derived from coenzyme A degradation. For some decades, synthetic cysteamine has been employed for the treatment of cystinosis, and new uses of the drug continue to emerge. In this review, we discuss the role of cysteamine in cellular and extracellular homeostasis and focus on the potential use of aminothiols to reconstitute the function of proteins harboring arginine (Arg) to cysteine (Cys) mutations, via repair of the Cys residue into a moiety that introduces an amino group, as seen in basic amino acid residues Lys and Arg...
June 22, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28638260/infantile-nephropathic-cystinosis-a-novel-ctns-mutation
#2
Hakan Doneray, Mohammed Aldahmesh, Gulsah Yilmaz, Emine Cinici, Zerrin Orbak
Cystinosis is a rare autosomal recessive metabolic disorder characterized by the accumulation of cystine in lysosomes, which results from defects in the carrier-mediated transport protein encoded by the CTNS gene. Infantile nephropathic cystinosis (INC) is one of the major complications of cystinosis. It is characterized by findings of Fanconi's syndrome within the first year of life. Here we report two patients with INC presenting with signs of Fanconi's syndrome and describe a novel CTNS mutation.
June 2017: Eurasian Journal of Medicine
https://www.readbyqxmd.com/read/28634142/cysteamine-polysaccharide-hydrogels-study-of-extended-ocular-delivery-and-biopermanence-time-by-pet-imaging
#3
Andrea Luaces-Rodríguez, Victoria Díaz-Tomé, Miguel González-Barcia, Jesús Silva-Rodríguez, Michel Herranz, María Gil-Martínez, María Teresa Rodríguez-Ares, Carla García-Mazás, José Blanco-Mendez, María Jesús Lamas, Francisco Javier Otero-Espinar, Anxo Fernández-Ferreiro
Cystinosis is a rare autosomal recessive disorder in which cystine crystals accumulate within the lysosomes of various organs, including the cornea. Ocular treatment is based on the administration of cysteamine eye drops, requiring its instillation several times per day. We have introduced the cysteamine in two types of previously developed ocular hydrogels (ion sensitive hydrogel with the polymers gellan gum and kappa-carrageenan and another one composed of hyaluronic acid), aiming at increasing the ocular retention in order to extend the dosing interval...
June 19, 2017: International Journal of Pharmaceutics
https://www.readbyqxmd.com/read/28629674/cystinosis-distal-myopathy-novel-clinical-pathological-and-genetic-features
#4
Macarena Cabrera-Serrano, Reimar C Junckerstorff, Ali Alisheri, Alan Pestronk, Nigel G Laing, Conrad C Weihl, Phillipa J Lamont
Nephropathic cystinosis is an autosomal recessive lysosomal disease in which cystine cannot exit the lysosome to complete its degradation in the cytoplasm, thus accumulating in tissues. Some patients develop a distal myopathy involving mainly hand muscles. Myopathology descriptions from only 5 patients are available in the literature. We present a comprehensive clinical, pathological and genetic description of 3 patients from 2 families with nephropathic cystinosis. Intrafamiliar variability was detected in one family in which one sibling developed a severe distal myopathy while the other sibling did not show any signs of skeletal muscle involvement...
May 15, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28509131/growth-hormone-therapy-for-a-patient-with-idiopathic-fanconi-syndrome-and-growth-hormone-deficiency
#5
Takayuki Okamoto, Yasuyuki Sato, Takeshi Yamazaki, Asako Hayashi, Toshiyuki Takahashi
Idiopathic Fanconi syndrome (FS) is characterized by a generalized dysfunction of the renal proximal tubules. Patients with FS often exhibit growth retardation due to complex factors, such as hypophosphatemia, metabolic acidosis, disturbed vitamin D metabolism and hypokalemia. To date, one FS patient has been reported to exhibit growth failure due to growth hormone deficiency (GHD), but the long-term clinical course of recombinant human GH (rhGH) therapy has not been reported. At 10 months of age, the patient was admitted to our hospital due to growth failure...
May 2017: CEN Case Reports
https://www.readbyqxmd.com/read/28490397/aortic-dissection-and-cystinosis-is-there-any-relationship
#6
Masih Tajdini, Mehdi Bayati, Ali Vasheghani-Farahani
Cystinosis is a rare, autosomal-recessive genetic disorder. The kidneys are commonly involved, as there is cystinosin protein malfunction, and nephropathic cystinosis ensues. Although cardiac and vascular involvements are rare, we describe a unique case of aortic dissection in a 25-year-old female with cystinosis. We discuss the possible aetiologies of aortic dissection in this condition.
May 11, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28477325/clinical-practice-a-proposed-standardized-ophthalmological-assessment-for-patients-with-cystinosis
#7
REVIEW
Anne-Marie Pinxten, Minh-Tri Hua, Jennifer Simpson, Katharina Hohenfellner, Elena Levtchenko, Ingele Casteels
Cystinosis is a rare autosomal recessive disease with an incidence of approximately 1 case per 100,000-200,000 live births. Over the years, gaining in-depth knowledge of the disease has led to vast improvement in patient life expectancy. However, debilitating, extra-renal manifestations such as eye disease, in particular corneal crystal deposition and its associated photophobia, still occur frequently, regardless of patient age and notwithstanding the increased implementation of systemic therapy. Ophthalmological assessment has not yet been standardized...
June 2017: Ophthalmology and Therapy
https://www.readbyqxmd.com/read/28465352/cystinosin-the-small-gtpase-rab11-and-the-rab7-effector-rilp-regulate-intracellular-trafficking-of-the-chaperone-mediated-autophagy-receptor-lamp2a
#8
Jinzhong Zhang, Jennifer L Johnson, Jing He, Gennaro Napolitano, Mahalakshmi Ramadass, Celine Rocca, William B Kiosses, Cecilia Bucci, Qisheng Xin, Evripidis Gavathiotis, Ana María Cuervo, Stephanie Cherqui, Sergio D Catz
The lysosomal storage disease cystinosis, caused by cystinosin deficiency, is characterized by cell malfunction, tissue failure, and progressive renal injury despite cystine-depletion therapies. Cystinosis is associated with defects in chaperone-mediated autophagy (CMA), but the molecular mechanisms are incompletely understood. Here, we show CMA substrate accumulation in cystinotic kidney proximal tubule cells. We also found mislocalization of the CMA lysosomal receptor LAMP2A and impaired substrate translocation into the lysosome caused by defective CMA in cystinosis...
June 23, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28448550/priority-target-conditions-for-algorithms-for-monitoring-children-s-growth-interdisciplinary-consensus
#9
Pauline Scherdel, Rachel Reynaud, Christine Pietrement, Jean-François Salaün, Marc Bellaïche, Michel Arnould, Bertrand Chevallier, Hugues Piloquet, Emmanuel Jobez, Jacques Cheymol, Emmanuelle Bichara, Barbara Heude, Martin Chalumeau
BACKGROUND: Growth monitoring of apparently healthy children aims at early detection of serious conditions through the use of both clinical expertise and algorithms that define abnormal growth. Optimization of growth monitoring requires standardization of the definition of abnormal growth, and the selection of the priority target conditions is a prerequisite of such standardization. OBJECTIVE: To obtain a consensus about the priority target conditions for algorithms monitoring children's growth...
2017: PloS One
https://www.readbyqxmd.com/read/28426870/a-new-viscous-cysteamine-eye-drops-treatment-for-ophthalmic-cystinosis-an-open-label-randomized-comparative-phase-iii-pivotal-study
#10
Hong Liang, Antoine Labbé, Jeannie Le Mouhaër, Céline Plisson, Christophe Baudouin
Purpose: The purpose of this study was to evaluate the efficacy of new viscous cysteamine hydrochloride (CH) eye drops (vCH 0.55%) compared with standard CH 0.10% drops treatment. Methods: This was an open-label, phase III, randomized, two-arm multicenter trial conducted at two centers in France. Cystinosis patients ≥2 years old were randomized 1:1 to receive eye drops, four times per day for 90 days in both eyes. We compared the superiority in reducing corneal cystine crystal density as assessed by in vivo confocal microscopy (IVCM)...
April 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28405942/first-successful-conception-induced-by-a-male-cystinosis-patient
#11
Koenraad R Veys, Kathleen W D'Hauwers, Angelique J C M van Dongen, Mirian C Janssen, Martine T P Besouw, Ellen Goossens, Lambert P van den Heuvel, Alex A M M Wetzels, Elena N Levtchenko
Cystinosis is a rare autosomal recessive lysosomal storage disease characterized by multi-organ cystine accumulation, leading to renal failure and extra-renal organ dysfunction. Azoospermia of unknown origin is the main cause of infertility in all male cystinosis patients. Although spermatogenesis has shown to be intact at the testicular level in some patients, no male cystinosis patient has been reported yet to have successfully induced conception.We present the first successful conception ever reported, induced by a 27-year-old male renal transplant infantile nephropathic cystinosis patient through percutaneous epididymal sperm aspiration (PESA) followed by intracytoplasmatic sperm injection (ICSI)...
April 13, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28343476/pulmonary-complications-of-cystinosis
#12
Richard H Simon
No abstract text is available yet for this article.
April 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28343475/endocrine-complications-of-cystinosis
#13
Elena Levtchenko
No abstract text is available yet for this article.
April 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28343474/conclusions-to-the-supplement-extra-renal-complications-of-cystinosis
#14
Jess G Thoene
No abstract text is available yet for this article.
April 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28343473/myopathy-and-less-frequent-complications-of-cystinosis
#15
Jess G Thoene
No abstract text is available yet for this article.
April 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28343472/bone-complications-of-cystinosis
#16
Craig B Langman
No abstract text is available yet for this article.
April 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28343471/ocular-complications-of-infantile-nephropathic-cystinosis
#17
Rachel Bishop
No abstract text is available yet for this article.
April 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28343470/neurocognitive-complications-of-cystinosis
#18
Doris Trauner
No abstract text is available yet for this article.
April 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28343469/introduction-to-extra-renal-complications-of-cystinosis
#19
Jess G Thoene
No abstract text is available yet for this article.
April 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28325728/corneal-cystine-crystals-in-cystinosis
#20
Chen Ling, Xiaorong Liu, Zhi Chen, Yeping Jiang, Jianfeng Fan, Qun Meng, Qian Fu, Jifeng Yu
No abstract text is available yet for this article.
March 21, 2017: Archives of Disease in Childhood
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