ABSTRACT
Falciform ligament (remnant of umbilical vein) is an anatomical structure that connects the liver to the anterior abdominal wall. This case reports a rare clinical presentation of falciform ligament thrombosis as a consequence of acute gallstone pancreatitis, in a patient with noncirrhotic liver. A 55-year-old female with a history of cholelithiasis was admitted with abdominal pain. Biochemistry profile showed hyperamylasemia and deranged liver function tests. Computerized Tomography (CT) revealed a 3 cm attenuated structure that can be traced up to the left portal vein, which represents an acute thrombosis of the falciform ligament. The patient was treated with Tinzaparin and subsequently anticoagulated. She subsequently had a laparoscopic cholecystectomy and made an uneventful recovery. We suspect that pancreatitis caused thrombophlebitis subsequently leading to recanalization and thrombosis of the umbilical vein. Falciform ligament thrombosis is a rare and poorly described complication following pancreatitis which clinicians and radiologists should be aware of.
Subject(s)
Asian People/genetics , Essential Tremor/genetics , Membrane Proteins/genetics , Nerve Tissue Proteins/genetics , Polymorphism, Single Nucleotide , White People/genetics , Adult , Aged , Female , Genome-Wide Association Study , Genotype , Humans , Male , Middle Aged , Odds Ratio , Risk Assessment , Risk FactorsABSTRACT
OBJECTIVES: To assess the association of ATP13A2 gene mutation among patients with early onset Parkinson disease (EOPD, onset < 50 years) in ethnic Chinese population. METHODS: Among 771 subjects, we studied 182 patients with EOPD and familial PD and 589 matched controls from two cohorts of Han Chinese in Taiwan and Singapore. The entire ATP13A2 coding region and intron-exon boundaries were sequenced in 71 probands and 70 controls in Taiwanese/ethnic Chinese. An additional 111 index patients with PD in Singapore and 589 controls were later screened to validate possible mutations that were found in the first set of study subjects. RESULTS: We identified one novel missense variant, AL746Thr, in a single heterozygous state in three patients (two were from Taiwan and one was from Singapore) (1.7% in EOPD). The variant was not observed in 589 ethnicity matched controls. The frequency of this variant was significantly higher in PD cases than controls (p = 0.01, relative risk 4.3, 95% CI 1.9-4.3). The clinical phenotype and (18)F-dopa PET image of ATP13A2 Ala78Thr carriers are similar to that seen in idiopathic PD. The variant is located between the highly conserved phosphorylation region and the fifth transmembrane domain of the ATP13A2 protein. CONCLUSIONS: A rare variant of the ATP13A2 was associated with an increased risk of Parkinson disease among ethnic Chinese in Asia. Further studies are needed to clarify the functional role of this genetic risk factor.
Subject(s)
Genetic Predisposition to Disease , Mutation , Parkinson Disease/genetics , Proton-Translocating ATPases/genetics , Adolescent , Adult , Aged , Aged, 80 and over , Alanine/genetics , Asian People/genetics , DNA Mutational Analysis/methods , Exons/genetics , Female , Gene Frequency , Genotype , Humans , Male , Middle Aged , Models, Molecular , Parkinson Disease/pathology , Positron-Emission Tomography/methods , Singapore , Taiwan , Threonine/genetics , Young AdultABSTRACT
We showed that the frequency of a LRRK2 variant (c.4883G > C, R1628P) was higher in Parkinson's disease (PD) compared to controls (8.4 vs. 3.4%, P = 0.046, OR 2.5, 95% CI 1.1-5.6). In the multivariate logistic regression (with adjustments made for the effect of age, age of onset, and gender), the heterozygous R1628P genotype was associated with an increased risk of PD compared to controls (OR 3.3, 95% CI 1.4- 7.9, P = 0.007). We provided an independent confirmation that the R1628P variant increases the risk of PD among Chinese.
