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Cystinosis

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https://www.readbyqxmd.com/read/28937083/infantile-cystinosis-from-dialysis-to-renal-transplantation
#1
Manel Jellouli, Meriem Ferjani, Kamel Abidi, Chokri Zarrouk, Jaouida Abdelmoula, Tahar Gargah
Cystinosis is an autosomal recessive, lysosomal storage disease characterised by the accumulation of the amino acid cystine in different organs and tissues. It is a multisystemic disease that can present with renal and extra-renal manifestations. In this report, we present the first case of transplanted nephropathic cystinosis in a Tunisian child. A 4-year-old Tunisian boy born to nonconsanguineous parents, was treated in our medical services in 1990 for cystinosis. Since the age of five months, he developed symptoms of severe weight loss, vomiting, dehydration, and polyuria...
September 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28913343/exacerbating-and-reversing-lysosomal-storage-diseases-from-yeast-to-humans
#2
REVIEW
Tamayanthi Rajakumar, Andrew B Munkacsi, Stephen L Sturley
Lysosomal storage diseases (LSDs) arise from monogenic deficiencies in lysosomal proteins and pathways and are characterized by a tissue-wide accumulation of a vast variety of macromolecules, normally specific to each genetic lesion. Strategies for treatment of LSDs commonly depend on reduction of the offending metabolite(s) by substrate depletion or enzyme replacement. However, at least 44 of the ~50 LSDs are currently recalcitrant to intervention. Murine models have provided significant insights into our understanding of many LSD mechanisms; however, these systems do not readily permit phenotypic screening of compound libraries, or the establishment of genetic or gene-environment interaction networks...
August 25, 2017: Microbial Cell
https://www.readbyqxmd.com/read/28913329/structured-transition-protocol-for-children-with-cystinosis
#3
Rupesh Raina, Joseph Wang, Vinod Krishnappa
The transition from pediatric to adult medical services has a greater impact on the care of adolescents or young adults with chronic diseases such as cystinosis. This transition period is a time of psychosocial development and new responsibilities placing these patients at increased risk of non-adherence. This can lead to serious adverse effects such as graft loss and progression of the disease. Our transition protocol will provide patients, families, physicians, and all those involved a structured guide to transitioning cystinosis patients...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28871612/a-short-cut-diagnostic-tool-in-cystinosis-bone-marrow-aspiration
#4
Serra Sürmeli Döven, Ali Delibaş, Uğur Raşit Karacan, Selma Ünal
BACKGROUND: Cystinosis is a rare metabolic genetic disorder caused by a mutation in the cystinosin lysosomal cystine transporter (CTNS) gene. The diagnosis of nephropathic cystinosis (NC) is made by observing corneal cystine crystals and/or measuring the cystine content of leukocytes. Analysis by the CTNS gene mutation confirms the diagnosis of cystinosis. But leukocyte cystine level measurement and CTNS gene analysis haven't been widely available and cystine crystals in the cornea may not be apparent in the first months of life...
September 4, 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28793998/the-clinical-and-mutational-spectrum-of-turkish-patients-with-cystinosis
#5
Rezan Topaloglu, Bora Gulhan, Mihriban İnözü, Nur Canpolat, Alev Yilmaz, Aytül Noyan, İsmail Dursun, İbrahim Gökçe, Metin Kaya Gürgöze, Nurver Akinci, Esra Baskin, Erkin Serdaroğlu, Beltinge Demircioğlu Kiliç, Selçuk Yüksel, Duygu Övünç Hacihamdioğlu, Emine Korkmaz, Mutlu Hayran, Fatih Ozaltin
BACKGROUND AND OBJECTIVES: Infantile nephropathic cystinosis is a severe disease that occurs due to mutations in the cystinosis gene, and it is characterized by progressive dysfunction of multiple organs; >100 cystinosis gene mutations have been identified in multiple populations. Our study aimed to identify the clinical characteristics and spectrum of cystinosis gene mutations in Turkish pediatric patients with cystinosis. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We identified the clinical characteristics and spectrum of cystinosis gene mutations in Turkish patients with cystinosis in a multicenter registry that was established for data collection...
August 9, 2017: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/28751454/cysteamine-prevents-vascular-leakage-through-inhibiting-transglutaminase-in-diabetic-retina
#6
Yeon-Ju Lee, Se-Hui Jung, JongYun Hwang, Sohee Jeon, Eun-Taek Han, Won Sun Park, Seok-Ho Hong, Young-Myeong Kim, Kwon-Soo Ha
Cysteamine (an aminothiol), which is derived from coenzyme A degradation and metabolized into taurine, has beneficial effects against cystinosis and neurodegenerative diseases; however, its role in diabetic complications is unknown. Thus, we sought to determine the preventive effect of cysteamine against hyperglycemia-induced vascular leakage in the retinas of diabetic mice. Cysteamine and ethanolamine, the sulfhydryl group-free cysteamine analogue, inhibited vascular endothelial growth factor (VEGF)-induced stress fiber formation and vascular endothelial (VE)-cadherin disruption in endothelial cells, which play a critical role in modulating endothelial permeability...
October 2017: Journal of Endocrinology
https://www.readbyqxmd.com/read/28730346/gyrfalcons-falco-rusticolus-adjust-ctns-expression-to-food-abundance-a-possible-contribution-to-cysteine-homeostasis
#7
Ismael Galván, Ângela Inácio, Ólafur K Nielsen
Melanins form the basis of animal pigmentation. When the sulphurated form of melanin, termed pheomelanin, is synthesized, the sulfhydryl group of cysteine is incorporated to the pigment structure. This may constrain physiological performance because it consumes the most important intracellular antioxidant (i.e., glutathione, GSH), of which cysteine is a constitutive amino acid. However, this may also help avoid excess cysteine, which is toxic. Pheomelanin synthesis is regulated by several genes, some of them exerting this regulation by controlling the transport of cysteine in melanocytes...
July 20, 2017: Oecologia
https://www.readbyqxmd.com/read/28692321/a-systematic-literature-review-of-cysteamine-bitartrate-in-the-treatment-of-nephropathic-cystinosis
#8
Medic Goran, Miriam van der Weijden, Andreas Karabis, Michiel Hemels
OBJECTIVES: To summarize available clinical evidence for cysteamine bitartrate preparations in the treatment of nephropathic cystinosis as identified through a systematic literature review (SLR). METHODS: We searched MEDLINE, MEDLINE In-Process and EMBASE using Ovid® with a predefined search strategy through 19(th) January 2016. All publicly available clinical reports on the use of delayed-release (DR) cysteamine bitartrate (PROCYSBI®) or immediate-release (IR) cysteamine bitartrate (Cystagon®) in patients with cystinosis were included...
July 10, 2017: Current Medical Research and Opinion
https://www.readbyqxmd.com/read/28673276/worldwide-view-of-nephropathic-cystinosis-results-from-a-survey-from-30-countries
#9
Aurélia Bertholet-Thomas, Julien Berthiller, Velibor Tasic, Behrouz Kassai, Hasan Otukesh, Marcella Greco, Jochen Ehrich, Rejane de Paula Bernardes, Georges Deschênes, Sally-Ann Hulton, Michel Fischbach, Kenza Soulami, Bassam Saeed, Ehsan Valavi, Carlos Jose Cobenas, Bülent Hacihamdioglu, Gabrielle Weiler, Pierre Cochat, Justine Bacchetta
BACKGROUND: Nephropathic cystinosis is a rare inherited metabolic disorder leading to progressive renal failure and extra-renal comorbidity. The prognosis relies on early adherence to cysteamine treatment and symptomatic therapies. Developing nations [DiN] experience many challenges for management of cystinosis. The aim of this study was to assess the management characteristics in DiN compared with developed nations [DeN]. METHODS: A questionnaire was sent between April 2010 and May 2011 to 87 members of the International Pediatric Nephrology Association, in 50 countries...
July 3, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28643139/cysteamine-revisited-repair-of-arginine-to-cysteine-mutations
#10
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...
July 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28638260/infantile-nephropathic-cystinosis-a-novel-ctns-mutation
#11
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
#12
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...
August 7, 2017: International Journal of Pharmaceutics
https://www.readbyqxmd.com/read/28629674/cystinosis-distal-myopathy-novel-clinical-pathological-and-genetic-features
#13
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...
September 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28509131/growth-hormone-therapy-for-a-patient-with-idiopathic-fanconi-syndrome-and-growth-hormone-deficiency
#14
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
#15
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.
September 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28477325/clinical-practice-a-proposed-standardized-ophthalmological-assessment-for-patients-with-cystinosis
#16
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
#17
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
#18
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
#19
RANDOMIZED CONTROLLED TRIAL
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
#20
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
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