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Cystinosis

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https://www.readbyqxmd.com/read/28509131/growth-hormone-therapy-for-a-patient-with-idiopathic-fanconi-syndrome-and-growth-hormone-deficiency
#1
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
#2
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
#3
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...
May 5, 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
#4
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...
May 2, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28448550/priority-target-conditions-for-algorithms-for-monitoring-children-s-growth-interdisciplinary-consensus
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
https://www.readbyqxmd.com/read/28278342/intraretinal-crystals-in-nephopathic-cystinosis-and-fanconi-syndrome
#17
Igor Kozak, J Fernando Arevalo, Samir S Shoughy
No abstract text is available yet for this article.
March 9, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28276300/value-of-renal-biopsy-in-diagnosing-infantile-nephropathic-cystinosis-associated-with-secondary-nephrogenic-diabetes-insipidus
#18
Emily Joyce, Jacqueline Ho, Areeg El-Gharbawy, Cláudia M Salgado, Sarangarajan Ranganathan, Miguel Reyes-Múgica
Cystinosis is the most common cause of inherited renal Fanconi syndrome in young children, and typically presents with laboratory findings of a proximal tubulopathy and corneal crystals by one year of age. We describe here renal biopsy findings in a 20-month-old patient with an atypical presentation of distal renal tubular acidosis, diabetes insipidus, and the absence of corneal crystals. Although renal biopsy is usually not necessary to establish the diagnosis of cystinosis, when the patient presents with atypical signs and symptoms, a renal biopsy may be extremely valuable...
January 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28238446/ctns-molecular-genetics-profile-in-a-persian-nephropathic-cystinosis-population
#19
Farideh Ghazi, Rozita Hosseini, Mansoureh Akouchekian, Shahram Teimourian, Zohreh Ataei Kachoei, Hassan Otukesh, William A Gahl, Babak Behnam
PURPOSE: In this report, we document the CTNS gene mutations of 28 Iranian patients with nephropathic cystinosis age 1-17 years. All presented initially with severe failure to thrive, polyuria, and polydipsia. METHODS: Cystinosis was primarily diagnosed by a pediatric nephrologist and then referred to the Iran University of Medical Sciences genetics clinic for consultation and molecular analysis, which involved polymerase chain reaction (PCR) amplification to determine the presence or absence of the 57-kb founder deletion in CTNS, followed by direct sequencing of the coding exons of CTNS...
February 23, 2017: Nefrología: Publicación Oficial de la Sociedad Española Nefrologia
https://www.readbyqxmd.com/read/28198397/cystinosis-ctns-zebrafish-mutant-shows-pronephric-glomerular-and-tubular-dysfunction
#20
Mohamed A Elmonem, Ramzi Khalil, Ladan Khodaparast, Laleh Khodaparast, Fanny O Arcolino, Joseph Morgan, Anna Pastore, Przemko Tylzanowski, Annelii Ny, Martin Lowe, Peter A de Witte, Hans J Baelde, Lambertus P van den Heuvel, Elena Levtchenko
The human ubiquitous protein cystinosin is responsible for transporting the disulphide amino acid cystine from the lysosomal compartment into the cytosol. In humans, Pathogenic mutations of CTNS lead to defective cystinosin function, intralysosomal cystine accumulation and the development of cystinosis. Kidneys are initially affected with generalized proximal tubular dysfunction (renal Fanconi syndrome), then the disease rapidly affects glomeruli and progresses towards end stage renal failure and multiple organ dysfunction...
February 15, 2017: Scientific Reports
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