scholarly journals Favorable Long-Term Outcome Following Severe Neonatal Hyperammonemic Coma in a Patient with Argininosuccinate Synthetase Deficiency

2011 ◽  
pp. 83-88 ◽  
Author(s):  
Isabelle De Bie ◽  
Emmanuelle Lemyre ◽  
Marie Lambert
Keyword(s):  
Argininosuccinate Synthetase ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Synthetase Deficiency ◽  
Argininosuccinate Synthetase Deficiency

scholarly journals Clinical and Biochemical Profiles of Filipino Patients with Distal Urea Cycle Disorders Detected by Abnormal Expanded Newborn Screening

2020 ◽  
Vol 54 (4) ◽  
Author(s):  
Michelle E. Abadingo ◽  
Mary Ann R. Abacan ◽  
Mary Anne D. Chiong ◽  
Leniza G. De Castro-Hamoy
Keyword(s):  
Newborn Screening ◽  
Neurodevelopmental Outcome ◽  
Clinical Manifestations ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Expanded Newborn Screening ◽  
Biochemical Profiles ◽  
Cycle Disorders ◽  
Argininosuccinate Synthetase Deficiency

Objective. The study is a retrospective review which provides preliminary data on the correlation between biochemical profiles and initial clinical manifestation of patients diagnosed to have argininosuccinate synthetase deficiency (ASSD) and argininosuccinate lyase deficiency (ASLD) detected by expanded newborn screening (ENBS).Methods. This is a study of five distal UCD patients initially detected by elevated citrulline on ENBS. Medical charts of the patients were reviewed. The initial clinical manifestations of the patients were correlated with results of biochemical tests.Results. There were four cases of ASLD and one case of ASSD reviewed in this study. All cases of ASLD were confirmed by the presence of argininosuccinic acid (ASA) in the urine metabolic screen (UMS). The plasma citrulline level of the ASSD patient is significantly elevated as compared to the ASLD patients (2,690 µmol/L; NV: 10-45 µmol/L). The ASSD patient and one ASLD patient were symptomatic within the first six days of life. Both presented with significantly elevated plasma ammonia, citrulline and glutamine levels. Three ASLD patients were asymptomatic on initial screening.Conclusion. ENBS has shown importance in the early detection and management of ASSD and ASLD. Early initiation of management may prevent hyperammonemic crises. Long term outcome studies are needed to look into the correlation of neurodevelopmental outcome with lifelong accumulation of citrulline and glutamine in ASSD and ASA in ASLD.

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

1519: Long Term Outcome of Interstitial Laser Coagulation for Benign Prostatic Hyperplasia

2006 ◽  
Vol 175 (4S) ◽  
pp. 490-490
Author(s):  
Stefan Zastrow ◽  
Sven Oehlschläger ◽  
Oliver W. Hakenberg ◽  
Steffen Leike ◽  
Manfred P. Wirth
Keyword(s):  
Benign Prostatic Hyperplasia ◽  
Prostatic Hyperplasia ◽  
Laser Coagulation ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Interstitial Laser

1306: Microvascular Arterial Bypass Surgery: Assessment of Long-Term Outcome

2006 ◽  
Vol 175 (4S) ◽  
pp. 420-421
Author(s):  
Gemma Viola Fantini ◽  
Andrew Nisbet ◽  
Pejman Mortarjem ◽  
Claudia Panzer ◽  
Ricardo Munarriz
Keyword(s):  
Bypass Surgery ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Arterial Bypass ◽  
Arterial Bypass Surgery
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