Type I hyperlipidaemia caused by lipoprotein lipase deficiency in a nurseling: the role of the clinical laboratory in processing biological samples and contributing to the diagnosis and therapeutic follow-up of patients

2015 ◽  
Vol 73 (5) ◽  
pp. 581-586
Author(s):  
Jean-Maxime Girard ◽  
Paul-Antoine Debailleul ◽  
Emilie Chaillou ◽  
Pascale Benlian ◽  
Françoise Larcher ◽  
...  
Keyword(s):  
Lipoprotein Lipase ◽  
Biological Samples ◽  
Clinical Laboratory ◽  
Type I ◽  
Lipoprotein Lipase Deficiency

scholarly journals Management of severe hypertriglyceridemia due to lipoprotein lipase deficiency in children

2019 ◽  
Vol 2019 ◽  
Author(s):  
Sarah W Y Poon ◽  
Karen K Y Leung ◽  
Joanna Y L Tung
Keyword(s):  
Acute Pancreatitis ◽  
Lipoprotein Lipase ◽  
Normal Growth ◽  
List Type ◽  
Low Fat Diet ◽  
Intravenous Insulin ◽  
Lipoprotein Lipase Deficiency ◽  
Severe Hypertriglyceridemia

Summary Severe hypertriglyceridemia is an endocrine emergency and is associated with acute pancreatitis and hyperviscosity syndrome. We describe an infant with lipoprotein lipase deficiency with severe hypertriglyceridemia who presented with acute pancreatitis. She was managed acutely with fasting and intravenous insulin infusion, followed by low-fat diet with no pharmacological agent. Subsequent follow-up until the age of 5 years showed satisfactory lipid profile and she has normal growth and development. Learning points: Hypertriglyceridemia-induced acute pancreatitis has significant morbidity and mortality, and prompt treatment is imperative. When no secondary causes are readily identified, genetic evaluation should be pursued in hypertriglyceridemia in children. Intravenous insulin is a safe and effective acute treatment for hypertriglyceridemia in children, even in infants. Long-term management with dietary modifications alone could be effective for primary hypertriglyceridemia due to lipoprotein lipase deficiency, at least in early childhood phase.

scholarly journals Repeated Renal Biopsy - A Predictive Tool to Assess the Probability of Renal Flare in Lupus Nephritis

2016 ◽  
Vol 44 (6) ◽  
pp. 439-446 ◽  
Author(s):  
Gastón J. Piñeiro ◽  
Pilar Arrizabalaga ◽  
Manel Solé ◽  
Rosa M. Abellana ◽  
Gerard Espinosa ◽  
...  
Keyword(s):  
Lupus Nephritis ◽  
Renal Biopsy ◽  
Clinical Laboratory ◽  
Predictive Tool ◽  
Renal Flare ◽  
Therapeutic Decisions ◽  
The Mean ◽  
Mean Time

Background: How one responds to treatment of lupus nephritis (LN) is based on clinical features, but the activity in renal biopsy (RB) is uncertain. We have described the therapeutic decisions after performing a repeated RB on the assessment of response to intravenous cyclophosphamide (IC) and the possible prognostic role of this repeated RB. Methods: Clinical, laboratory and histological features at the initial RB and repeated RB were analyzed in 35 patients. Results: Data in the initial versus the repeated RB were serum creatinine 1.23 ± 1.08 and 0.96 ± 0.45 mg/dl (p < 0.05), glomerular filtration rate <60 ml/min in 12 and 5% patients and proteinuria 4.1 ± 2.8 vs. 0.6 1.1 g/day (p < 0.05). Significant differences were detected in hematuria, nephrotic syndrome and serological immune features. Complete renal remission was reached in 60% (n = 21) at the time of the repeated RB, partial remission in 31.4% (n = 11), and no response IC in 8.6% (n = 3). Nine patients showed proliferative forms in the repeated RB, 3 of them had proteinuria <1 g/day. Just after the repeated RB, 34.3% increased or started a new immunosuppressive therapy, 17.1% remained with the same complementary IST, and 14.3% decreased or stopped it. In the follow-up post repeated RB, 34.5% without active lesions showed a renal flare versus 77.8% with active lesions (p = 0.04). The mean time was 120 and 45 months, respectively. Conclusion: A repeated biopsy in LN distinguishes patients in true remission from those in apparent remission. By doing this, we can identify patients who could benefit from intensified treatment and for whom unnecessary treatment methods can be modified or eliminated.

Biochemical findings in a patient with lipoprotein lipase deficiency (Hyperlipoproteinaemia Type I)

1981 ◽  
Vol 4 (1) ◽  
pp. 175-176 ◽  
Author(s):  
N. G. G. M. Abeling ◽  
H. D. Bakker ◽  
A. H. van Gennip ◽  
H. Jansen ◽  
A. Vázquez de la Cruz
Keyword(s):  
Lipoprotein Lipase ◽  
Type I ◽  
Lipoprotein Lipase Deficiency ◽  
Hyperlipoproteinaemia Type

Outcome of 116 cases of pleuropulmonary blastoma type I and type Ir (regressed): A report from the International PPB Registry (IPPBR).

2012 ◽  
Vol 30 (15_suppl) ◽  
pp. 9522-9522 ◽  
Author(s):  
Yoav H. Messinger ◽  
Gretchen M Williams ◽  
John R. Priest ◽  
Anne Harris ◽  
Leslie Ann Doros ◽  
...  
Keyword(s):  
Lung Neoplasm ◽  
Pleuropulmonary Blastoma ◽  
Type I ◽  
High Grade ◽  
Type Ii ◽  
Exact Test ◽  
Risk Of Progression ◽  
High Grade Sarcoma

9522 Background: Pleuropulmonary blastoma (PPB) is a rare dysembryonic lung neoplasm of early childhood with progression from a purely cystic Type I (T-I) lesion to cystic solid and solid high grade sarcoma (Type II and Type III). A regressed form of PPB (T-Ir) has been recognized pathologically. The outcome of both T-I and T-Ir has been only partially described. Methods: Retrospective analysis of 345 IPPBR cases showed 116 T-I or T-Ir. In all cases the PPB diagnosis was made on surgically removed cysts. The treating physician decided whether to use chemotherapy after surgery. Results: The pathologic diagnosis of the 91 PPB T-I and 25 T-Ir is now confirmed by central review (LPD and DAH). Patients with T-I were younger than T-Ir (median: 8 months vs. 48 months).Diagnosis after age 6 years included only one T-I compared to 10 T-Ir patients. Therapy is not known for 28 T-I and 2 T-Ir. Surgery was followed by chemotherapy in 31 T-I and 2 T-Ir. Six (5%) recurred with the same type, all were alive at last follow-up: 5 (5.5%) T-I, 1 (4%) T-Ir. Progression to high-grade Type II or III occurred in 9/91 (10%) T-I and 2/25 (8%) T-Ir. The addition of chemotherapy did not significantly reduce progressions (Fisher’s exact test). All of the tumor progressions were seen by 75 months of age; this finding is similar to broader IPPBR data: > 95% of patients are diagnosed with Type II/III by 72 months of age. Of the 9 patients with T-I who progressed, 5 ultimately died, whereas the 2 T-Ir who progressed were alive. At last follow-up 111/116 (95.6%) were alive. Conclusions: A cyst in an older individual most likely will be Type Ir. Type I and Type Ir are clinically similar with a small risk of progression to the advanced Type II/III up to 6 years of age. Outcome for those whose cystic PPBs progressed is poor. The role of chemotherapy remains uncertain for the prevention of progression in the pure cystic PPB Type I or Ir. [Table: see text]

Role of clinical laboratory in the follow-up of melanoma patients

1995 ◽  
Vol 5 (Supplement 1) ◽  
pp. 25
Author(s):  
S Pavel
Keyword(s):  
Clinical Laboratory ◽  
Melanoma Patients
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