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Cystinosis

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https://www.readbyqxmd.com/read/28448550/priority-target-conditions-for-algorithms-for-monitoring-children-s-growth-interdisciplinary-consensus
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
https://www.readbyqxmd.com/read/28143656/bone-marrow-transplantation-improves-proximal-tubule-dysfunction-in-a-mouse-model-of-dent-disease
#17
Sarah S Gabriel, Hendrica Belge, Alkaly Gassama, Huguette Debaix, Alessandro Luciani, Thomas Fehr, Olivier Devuyst
Dent disease is a rare X-linked tubulopathy caused by mutations in the endosomal chloride-proton exchanger (ClC-5) resulting in defective receptor-mediated endocytosis and severe proximal tubule dysfunction. Bone marrow transplantation has recently been shown to preserve kidney function in cystinosis, a lysosomal storage disease causing proximal tubule dysfunction. Here we test the effects of bone marrow transplantation in Clcn5(Y/-) mice, a faithful model for Dent disease. Transplantation of wild-type bone marrow in Clcn5(Y/-) mice significantly improved proximal tubule dysfunction, with decreased low-molecular-weight proteinuria, glycosuria, calciuria, and polyuria four months after transplantation, compared to Clcn5(Y/-) mice transplanted with ClC-5 knockout bone marrow...
January 28, 2017: Kidney International
https://www.readbyqxmd.com/read/28107209/nephropathic-cystinosis-an-update
#18
Koenraad R Veys, Mohamed A Elmonem, Fanny O Arcolino, Lambertus van den Heuvel, Elena Levtchenko
PURPOSE OF REVIEW: Over the past few decades, cystinosis, a rare lysosomal storage disorder, has evolved into a treatable metabolic disease. The increasing understanding of its pathophysiology has made cystinosis a prototype disease, delivering new insights into several fundamental biochemical and cellular processes. RECENT FINDINGS: In this review, we aim to provide an overview of the latest advances in the pathogenetic, clinical, and therapeutic aspects of cystinosis...
January 18, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28057644/efficacy-of-topical-cysteamine-in-nephropathic-cystinosis
#19
Amal Al-Hemidan, Samir S Shoughy, Igor Kozak, Khalid F Tabbara
PURPOSE: The aim of this study is to evaluate the efficacy of topical cysteamine 0.55% eye drops in the treatment of corneal cystine crystal deposits in patients with nephropathic cystinosis. METHODS: Thirty-two patients with nephropathic cystinosis were prospectively included in the study. Patients with corneal cystinosis were treated with topical cysteamine 0.55% eye drops. They were examined before treatment, on each monthly visit and after treatment at the last follow-up...
January 5, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28043364/inhibition-of-peripubertal-sheep-mammary-gland-development-by-cysteamine-through-reducing-progesterone-and-growth-factor-production
#20
Yong Zhao, Yanni Feng, Hongfu Zhang, Xin Kou, Lan Li, Xinqi Liu, Pengfei Zhang, Liantao Cui, Meiqiang Chu, Wei Shen, Lingjiang Min
Cysteamine has been used for treating cystinosis for many years, and furthermore it has also been used as a therapeutic agent for different diseases including Huntington's disease, Parkinson's disease (PD), nonalcoholic fatty liver disease, malaria, cancer, and others. Although cysteamine has many potential applications, its use may also be problematic. The effects of low doses of cysteamine on the reproductive system, especially the mammary glands are currently unknown. In the current investigation, low dose (10 mg/kg BW/day) of cysteamine did not affect sheep body weight gain or organ index of the liver, spleen, or heart; it did, however, increase the levels of blood lymphocytes, monocytes, and platelets...
February 2017: Theriogenology
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