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1.  Genetic and Clinical Features of Progranulin-Associated Frontotemporal Lobar Degeneration 
Archives of neurology  2011;68(4):488-497.
Objective
To assess the relative frequency of unique mutations and their associated characteristics in 97 individuals with mutations in progranulin (GRN), an important cause of frontotemporal lobar degeneration (FTLD).
Participants and Design
A 46-site International Frontotemporal Lobar Degeneration Collaboration was formed to collect cases of FTLD with TAR DNA-binding protein of 43-kDa (TDP-43)–positive inclusions (FTLD-TDP). We identified 97 individuals with FTLD-TDP with pathogenic GRN mutations (GRN+ FTLD-TDP), assessed their genetic and clinical characteristics, and compared them with 453 patients with FTLD-TDP in which GRN mutations were excluded (GRN− FTLD-TDP). No patients were known to be related. Neuropathologic characteristics were confirmed as FTLD-TDP in 79 of the 97 GRN+ FTLDTDP cases and all of the GRN− FTLD-TDP cases.
Results
Age at onset of FTLD was younger in patients with GRN+ FTLD-TDP vs GRN− FTLD-TDP (median, 58.0 vs 61.0 years; P<.001), as was age at death (median, 65.5 vs 69.0 years; P<.001). Concomitant motor neuron disease was much less common in GRN+ FTLDTDP vs GRN− FTLD-TDP (5.4% vs 26.3%; P<.001). Fifty different GRN mutations were observed, including 2 novel mutations: c.139delG (p.D47TfsX7) and c.378C>A (p.C126X). The 2 most common GRN mutations were c.1477C>T (p.R493X, found in 18 patients, representing 18.6% of GRN cases) and c.26C>A (p.A9D, found in 6 patients, representing 6.2% of cases). Patients with the c.1477C>T mutation shared a haplotype on chromosome 17; clinically, they resembled patients with other GRN mutations. Patients with the c.26C>A mutation appeared to have a younger age at onset of FTLD and at death and more parkinsonian features than those with other GRN mutations.
Conclusion
GRN+ FTLD-TDP differs in key features from GRN− FTLD-TDP.
doi:10.1001/archneurol.2011.53
PMCID: PMC3160280  PMID: 21482928
2.  Transient Hemolytic Anemia after Transjugular Intrahepatic Portosystemic Stent Shunt 
HPB Surgery  1996;9(4):249-251.
Management of variceal bleeding secondary to portal hypertension constitutes a challenging issue, particularly in child's C cirrhotic patients. Recently, transjugular placement of self-expanding metallic stents in the liver (TIPS), creating a shunt between the portal and hepatic branches has provided a safe and promising therapeutic approach in this clinical situation. We report here the case of a 66-year-old male cirrhotic patient who developed a moderately severe clinical picture of a Coombsnegative hemolytic anemia (serum hemoglobin, 93 g/l, serum bilirubin 160.74 umol/L (9.4 mg/dl), indirect 6.3 mg/dl (107.73 umol/L); serum LDH 1220 u/l, reticulocytes, 5.1%. serum ferritin, 1221 ug/1, schistocytes in peripheral blood smear) the week after undergoing a TIPS, suggesting the development ofa microangiopathic hemolytic anaemia secondary to red blood cell disruption by passing through the metallic network of the stent.
doi:10.1155/1996/19343
PMCID: PMC2443768  PMID: 8809588

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