scholarly journals Cribriform neuroepithelial tumor: molecular characterization of a SMARCB1-deficient non-rhabdoid tumor with favorable long-term outcome

2016 ◽  
Vol 27 (4) ◽  
pp. 411-418 ◽  
Author(s):  
Pascal D. Johann ◽  
Volker Hovestadt ◽  
Christian Thomas ◽  
Astrid Jeibmann ◽  
Katharina Heß ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Rhabdoid Tumor ◽  
Term Outcome ◽  
Long Term Outcome

scholarly journals AT-11CRIBRIFORM NEUROEPITHELIAL TUMOR (CRINET): MOLECULAR CHARACTERIZATION OF A SMARCB1-DEFICIENT NON-RHABDOID TUMOR WITH FAVORABLE LONG-TERM OUTCOME

2016 ◽  
Vol 18 (suppl 3) ◽  
pp. iii3.2-iii3
Author(s):  
Martin Hasselblatt ◽  
Christian Thomas ◽  
Katharina Heß ◽  
Volker Hovestadt ◽  
Pascal Johann ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Rhabdoid Tumor ◽  
Term Outcome ◽  
Long Term Outcome

P1813CLINICAL CHARACTERIZATION OF CONGENITAL SOLITARY FUNCTIONING KIDNEY IN CHILDREN

2020 ◽  
Vol 35 (Supplement_3) ◽  
Author(s):  
Francesca Becherucci ◽  
Francesca Guzzi ◽  
Luigi Cirillo ◽  
Alessandra Bettiol ◽  
Arianna Zuccato ◽  
...  
Keyword(s):  
Clinical Laboratory ◽  
Compensatory Hypertrophy ◽  
Functional Adaptation ◽  
Renal Scintigraphy ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Functioning Kidney

Abstract Background and Aims Congenital anomalies of the kidney and urinary tract (CAKUT) are the major cause of chronic kidney disease and end-stage kidney disease in childhood. Solitary functioning kidney (SFK) is part of the spectrum of CAKUT. Congenital SFK is mainly due to unilateral renal agenesis (URA) and multi-cystic dysplastic kidney (MCDK). With the implementation of routine fetal ultrasound screening, SFK is increasingly recognized before birth, significantly raising the number of patients referred to paediatric nephrology units for clinical monitoring during childhood. Understanding the pathophysiology of SFK is pivotal for guiding the clinical management and informing long-term outcome. However, observational studies performed in children with SFK are controversial, especially about the need, methodology and timing of functional assessment. This may be at least in part due to the fact that different models of SFK, including congenital and acquired after unilateral nephrectomy, are often grouped together. The aim of this study was to assess the clinical, laboratory and functional features of congenital SFK caused by URA and MCDK in children, with a particular focus on the role of renal scintigraphy in estimating kidney function during childhood and adolescence. Method We retrospectively collected clinical, laboratory and instrumental records of all consecutive pediatric patients (aged 0-18 years) affected by congenital SFK caused by URA or MCDK referred to the Nephrology and Dialysis Unit of Meyer Children’s Hospital of Florence (Italy) from 1992 to 2019. Patients with unilateral kidney hypodysplasia were excluded. In particular, we reviewed data from ultrasound scanning and sequential renal scintigraphy over time. URA and MCDK were compared for clinical features, long-term course and outcome. Results A total of 155 patients with congenital SFK were included in the study and divided in two groups according to the cause of SFK (URA, n=100; MCDK, n=55). The median length of follow-up was 47 and 45 months, respectively. Male sex and ethnicity were equally distributed in the two groups. Prenatal diagnosis was more frequent in MCDK group. We did not observe either preterm birth or low birth weight in patients enrolled. Overall, the clinical features were not statistically different between the two groups. In particular, SFK associated CAKUT, including vesicoureteral reflux, occurred at a comparable frequency. Also, measurement of kidney length by ultrasound scanning, which is often considered suggestive of compensatory hypertrophy, did not differ between groups. Although renal clearance from sequential renal scintigraphy appeared not statistically different between URA and MCDK, the latter seems to reach complete functional adaptation more rapidly and earlier in the first two years of life. Conclusion The clinical course and long-term outcome of SFK has been a topic of extensive debate. Due to poor-quality of data (unclear inclusion/exclusion criteria, lack of uniformity in data collection and outcome definition), generalization of findings from observational studies to all patients with SFK could be inappropriate. Congenital SFK could represent the most unbiased group to analyze and this study provides a thorough clinical characterization of a large and strictly selected cohort. Insights from sequential renal scintigraphy suggest a different trend in reaching single kidney complete functional adaptation in URA and MCDK. These results could potentially reveal significant differences in the pathophysiologic mechanisms of reaching compensatory hypertrophy and functional adaptation by the solitary kidney in the two models. Whether confirmed in larger cohorts, these findings could provide important implications for follow-up planning, informing the need, methodology and timing for function assessment, tailoring the clinical management and understanding long-term prognosis.

Use of Ultrasound Biomicroscopy to Predict Long-Term Outcome of Sub-Tenon Needle Revision of Failed Trabeculectomy Blebs: A Pilot Study

2011 ◽  
Vol 21 (6) ◽  
pp. 700-707 ◽  
Author(s):  
Sushmita Kaushik ◽  
Anamika Tiwari ◽  
Surinder Singh Pandav ◽  
Parul Ichhpujani ◽  
Amod Gupta
Keyword(s):  
Ultrasound Biomicroscopy ◽  
Successful Outcome ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Successful Group ◽  
Aqueous Flow ◽  
Needle Revision

Purpose. To evaluate the role of ultrasound biomicroscopy (UBM) in predicting the long-term outcome of sub-Tenon needling revision of failed trabeculectomy blebs. Methods. Adult patients with a failed trabeculectomy bleb and unsatisfactory intraocular pressure (IOP) control were recruited. The aqueous flow under the partial thickness scleral flap was looked for and the blebs classified on UBM as scleral route patent (SRP) or scleral route occluded (SRO). All blebs underwent needling revision with injection of 5 mg/0.1 mL 5-fluorouracil. Survival of the revision procedure at the end of 2 years follow-up with regards to the baseline UBM characterization of the bleb was noted. Successful outcome was defined as IOP <22.0 mmHg and/or 30% reduction of baseline IOP with or without medication. Results. A total of 13 eyes had SRP and 5 eyes had SRO blebs on UBM. Only SRP blebs survived the needling procedure by the end of 2 years. Of the 13 SRP blebs, 10 blebs survived (76.9%). Needling had failed in all 5 SRO blebs. The overall success rate was 55.6 % at 2 years. There was no difference in age, IOP, and time from initial trabeculectomy between the failed and successful group. The outcome correlated significantly to the patency of the scleral route assessed by UBM (p=0.07). Conclusions. Ultrasound biomicroscopy characterization of failed blebs appears to help in predicting the outcome of needle revision. In SRO blebs, it may be better to plan a full bleb revision rather than needling alone. Ultrasound biomicroscopy may help in avoiding an unnecessary needling procedure in SRO blebs where it is likely to fail.

scholarly journals Isolated congenital heart block. long-term outcome of mothers and characterization of the immune response to ss-a/ro and to ss-b/la

1993 ◽  
Vol 36 (11) ◽  
pp. 1588-1598 ◽  
Author(s):  
Heikki Julkunen ◽  
Pekka Kurki ◽  
Risto Kaaja ◽  
Ritva Heikkilä ◽  
Ilkka Immonen ◽  
...  
Keyword(s):  
Immune Response ◽  
Heart Block ◽  
Congenital Heart ◽  
Congenital Heart Block ◽  
Term Outcome ◽  
Long Term Outcome

Long-term outcome of treatment with cyclosporine IV for patients with intractable ulcerative colitis

2001 ◽  
Vol 120 (5) ◽  
pp. A624-A624 ◽  
Author(s):  
J ARTS ◽  
M ZEEGERS ◽  
G DHAENS ◽  
G VANASSCHE ◽  
M HIELE ◽  
...  
Keyword(s):  
Ulcerative Colitis ◽  
Term Outcome ◽  
Long Term Outcome
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