Classic Nephropathic Cystinosis as an Adult Disease

JAMA ◽  
1993 ◽  
Vol 270 (18) ◽  
pp. 2200 ◽  
Author(s):  
Demetrios S. Theodoropoulos
JAMA ◽  
1993 ◽  
Vol 270 (18) ◽  
pp. 2200-2204 ◽  
Author(s):  
D. S. Theodoropoulos

2005 ◽  
Vol 322 (1) ◽  
pp. 73-79 ◽  
Author(s):  
Alex J. Buckley ◽  
Anne L. Jaquiery ◽  
Jane E. Harding

2021 ◽  
Vol 6 (57) ◽  
pp. eabf7570
Author(s):  
Laura A. Vella ◽  
Josephine R. Giles ◽  
Amy E. Baxter ◽  
Derek A. Oldridge ◽  
Caroline Diorio ◽  
...  

Pediatric COVID-19 following SARS-CoV-2 infection is associated with fewer hospitalizations and often milder disease than in adults. A subset of children, however, present with Multisystem Inflammatory Syndrome in Children (MIS-C) that can lead to vascular complications and shock, but rarely death. The immune features of MIS-C compared to pediatric COVID-19 or adult disease remain poorly understood. We analyzed peripheral blood immune responses in hospitalized SARS-CoV-2 infected pediatric patients (pediatric COVID-19) and patients with MIS-C. MIS-C patients had patterns of T cell-biased lymphopenia and T cell activation similar to severely ill adults, and all patients with MIS-C had SARS-CoV-2 spike-specific antibodies at admission. A distinct feature of MIS-C patients was robust activation of vascular patrolling CX3CR1+ CD8+ T cells that correlated with the use of vasoactive medication. Finally, whereas pediatric COVID-19 patients with acute respiratory distress syndrome (ARDS) had sustained immune activation, MIS-C patients displayed clinical improvement over time, concomitant with decreasing immune activation. Thus, non-MIS-C versus MIS-C SARS-CoV-2 associated illnesses are characterized by divergent immune signatures that are temporally distinct from one another and implicate CD8+ T cells in the clinical presentation and trajectory of MIS-C.


2003 ◽  
Vol 22 (S1) ◽  
pp. 22-22
Author(s):  
K. Marsal ◽  
J. Brodszki ◽  
H. M. Gardiner ◽  
A. Hellstr�m ◽  
L. Martin ◽  
...  

1986 ◽  
Vol 237 (1) ◽  
pp. 9-15 ◽  
Author(s):  
F Tietze ◽  
L H Rome ◽  
J D Butler ◽  
G S Harper ◽  
W A Gahl

Cultured fibroblasts from patients with I-cell disease (mucolipidosis II) accumulate excessive amounts of free cystine, similarly to cells from patients with nephropathic cystinosis, a disorder of lysosomal cystine transport. To clarify whether the intralysosomal accumulation of cystine in I-cell-disease fibroblasts was due to a defective disposal mechanism, we measured the rates of clearance of free [35S]cystine from intact normal, cystinotic and I-cell-disease fibroblasts. Loss of radioactivity from the two mutant cell types occurred slowly (t 1/2 = 500 min) compared with the rapid loss from normal cells (t 1/2 = 40 min). Lysosome-rich granular fractions isolated from three different cystine-loaded normal, cystinotic and I-cell-disease fibroblast strains were similarly examined for non-radioactive cystine egress. Normal granular fractions lost cystine rapidly (mean t 1/2 = 43 min), whereas cystinotic granular fractions did not lose any cystine (mean t 1/2 = infinity). I-cell-disease granular fractions displayed prolonged half-times for cystine disposal (mean = 108 min), suggesting that I-cell-disease fibroblasts, like cystinotic cells, possess a defective carrier mechanism for cystine transport.


1999 ◽  
Vol 81 (1) ◽  
pp. 5-6 ◽  
Author(s):  
Simon C. Langley-Evans
Keyword(s):  

1987 ◽  
Vol 105 (12) ◽  
pp. 1670-1671 ◽  
Author(s):  
B. Katz ◽  
R. B. Melles ◽  
J. A. Schneider

1987 ◽  
Vol 21 (4) ◽  
pp. 289A-289A
Author(s):  
H A Gahl ◽  
M I Kalaer-Kupfer ◽  
J K Fink

2003 ◽  
Vol 62 (2) ◽  
pp. 521-528 ◽  
Author(s):  
J. C. K. Wells

Body composition in children is of increasing interest within the contexts of childhood obesity, clinical management of patients and nutritional programming as a pathway to adult disease. Energy imbalance appears to be common in many disease states; however, body composition is not routinely measured in patients. Traditionally, clinical interest has focused on growth or nutritional status, whereas more recent studies have quantified fat mass and lean mass. The human body changes in proportions and chemical composition during childhood and adolescence. Most of the weight gain comprises lean mass rather than fat. In general, interest has focused on percentage fat, and less attention has been paid to the way in which lean mass varies within and between individuals. In the general population secular trends in BMI have been widely reported, indicating increasing levels of childhood obesity, which have been linked to reduced physical activity. However, lower activity levels may potentially lead not only to increased fatness, but also to reduced lean mass. This issue merits further investigation. Diseases have multiple effects on body composition and may influence fat-free mass and/or fat mass. In some diseases both components change in the same direction, whereas in other diseases, the changes are contradictory and may be concealed by relatively normal weight. Improved techniques are required for clinical evaluations. Both higher fatness and reduced lean mass may represent pathways to an increased risk of adult disease.


BMJ ◽  
1990 ◽  
Vol 301 (6761) ◽  
pp. 1111-1111 ◽  
Author(s):  
D J Barker
Keyword(s):  

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