10 research outputs found
Early-onset breast cancer in a Lebanese family with Lynch syndrome due to MSH2 gene mutation
<p>Abstract</p> <p>Background</p> <p>There are still controversies about the integration of breast cancer as a part of the disease spectrum in Lynch syndrome.</p> <p>Methods</p> <p>A regular follow-up of a Lebanese pedigree with Lynch syndrome due to a point mutation of MSH2 gene at the splice donor site of intron 3 started in 1996.</p> <p>Results</p> <p>A 26-year-old pregnant woman, mutation carrier, developed an aggressive breast cancer, refractory to standard chemotherapy regimens. The microsatellite analysis of the tumor showed an unstable pattern for markers BAT25 and BAT26. The immunohistochemical staining was negative for MSH2 and MSH6 and normal for MLH1 and PMS6 enzymes.</p> <p>Conclusion</p> <p>The segregation of the mutation with the disease phenotype and these results suggest that MSH2 inactivation may be involved in the accelerated breast carcinogenesis and might be considered in the cancer screening program.</p
Budd-Chiari syndrome and heparin-induced thrombocytopenia in polycythemia vera: Successful treatment with repeated TIPS and interferon alpha
Polycythemia vera (PV) is a common cause of Budd-Chiari syndrome (BCS)
and portal vein thrombosis (PVT). The postpartum period is a
precipitating cofactor. An additional heparin-induced
thrombocytopenia/thrombosis (HIT/T) leads to a life-threatening
condition in which transjugular intrahepatic portosystemic shunting
(TIPS) seems to be the only life-saving procedure. We describe the case
of a subacute BCS and PVT in the late postpartum period. The diagnosis
was established using CT scan, MRI, and Doppler ultrasonography of
abdominal vessels and the laboratory findings were compatible with PV.
After a successful creation of TIPS, a HIT/T worsened the hemorrhagic
and thrombotic picture. TIPS procedure was successfully repeated and
heparin was replaced with Fondaparinux and then vitamin K antagonist.
The treatment with interferon alpha-2A, started after the normalization
of liver functions, resulted in a complete remission within 6 months.
The JAK2 V617F mutation clone remained undetectable after 2
years\u2032 follow-up
Budd-Chiari syndrome and heparin-induced thrombocytopenia in polycythemia vera: Successful treatment with repeated TIPS and interferon alpha
Polycythemia vera (PV) is a common cause of Budd-Chiari syndrome (BCS)
and portal vein thrombosis (PVT). The postpartum period is a
precipitating cofactor. An additional heparin-induced
thrombocytopenia/thrombosis (HIT/T) leads to a life-threatening
condition in which transjugular intrahepatic portosystemic shunting
(TIPS) seems to be the only life-saving procedure. We describe the case
of a subacute BCS and PVT in the late postpartum period. The diagnosis
was established using CT scan, MRI, and Doppler ultrasonography of
abdominal vessels and the laboratory findings were compatible with PV.
After a successful creation of TIPS, a HIT/T worsened the hemorrhagic
and thrombotic picture. TIPS procedure was successfully repeated and
heparin was replaced with Fondaparinux and then vitamin K antagonist.
The treatment with interferon alpha-2A, started after the normalization
of liver functions, resulted in a complete remission within 6 months.
The JAK2 V617F mutation clone remained undetectable after 2
years′ follow-up
A Stochastic Receding Horizon Control Approach to Constrained Index Tracking
Computational methods, Constraints, Index tracking, Receding horizon control, Stochastic control,