BACKGROUNDVon Hippel-Lindau (VHL) syndrome is an autosomal dominant familial cancer syndrome predisposing the affected individuals to multiple tumours in various organs. The genetic basis of VHL in Southern Chinese is largely unknown. In this study, we characterized the mutation spectrum of VHL in nine unrelated Southern Chinese families.

METHODSNine probands with clinical features of VHL, two symptomatic and eight asymptomatic family members were included in this study. Prenatal diagnosis was performed twice for one proband. Two probands had only isolated bilateral phaeochromocytoma. The VHL gene was screened for mutations by polymerase chain reaction, direct sequencing and multiplex ligation-dependent probe amplification (MLPA).

RESULTSThe nine probands and the two symptomatic family members carried heterozygous germline mutations. Eight different VHL mutations were identified in the nine probands. One splicing mutation, NM_000551.2: c.463+1G > T, was novel. The other seven VHL mutations, c.233A > G [p.Asn78Ser], c.239G > T [p.Ser80Ile], c.319C > G [p.Arg107Gly], c.481C > T [p.Arg161X], c.482G > A [p.Arg161Gln], c.499C > T [p.Arg167Trp] and an exon 2 deletion, had been previously reported. Three asymptomatic family members were positive for the mutation and the other five tested negative. In prenatal diagnosis, the fetuses were positive for the mutation.

CONCLUSIONSGenetic analysis could accurately confirm VHL syndrome in patients with isolated tumours such as sporadic phaeochromocytoma or epididymal papillary cystadenoma. Mutation detection in asymptomatic family members allows regular tumour surveillance and early intervention to improve their prognosis. DNA-based diagnosis can have an important impact on clinical management for VHL families.

Asian Continental Ancestry Group ; DNA Mutational Analysis ; Humans ; Polymerase Chain Reaction ; Sequence Analysis, DNA ; Von Hippel-Lindau Tumor Suppressor Protein ; genetics ; von Hippel-Lindau Disease ; genetics

INTRODUCTIONA few electrocardiographic criteria have been described to identify the infarct-related artery in inferior myocardial infarction. The aim of this study was to devise an arithmetic score to further improve the diagnostic accuracy.

MATERIALS AND METHODSFrom 2004 to 2006, 78 patients who underwent primary angioplasty for inferior myocardial infarction within 6 hours from symptom onset were recruited for electrocardiographic and angiographic analysis.

RESULTSThe mean age of patients was 65 ± 12 years with male predominance (74%). Less ST depression in lead I and aVL, and more prominent ST depression in lead V1-3 were observed in left circumflex artery (LCX) than right coronary artery (RCA) occlusions. In addition, more prominent ST depression in lead I and ST elevation in V1 were found in proximal RCA than distal RCA occlusions. Based on the findings, the Jeopardised Inferior Myocardium (JIM) score was constructed and defi ned as [II-V3/III+V1- I]. The sensitivity and specificity of JIM score ≤0.5 to predict proximal RCA occlusions; 0.5 1.5 to predict LCX occlusions were 58% and 85%, 69% and 68%, and 79% and 94%, respectively. The accuracy of prediction is slightly better than the 2 previously reported criteria.

CONCLUSIONBy taking into account more leads, the JIM score is capable of identifying the infarct-related artery with an improved diagnostic accuracy.

Aged ; Algorithms ; Coronary Angiography ; Coronary Occlusion ; diagnosis ; Coronary Vessels ; pathology ; Electrocardiography ; methods ; Female ; Humans ; Inferior Wall Myocardial Infarction ; diagnosis ; Male ; Middle Aged ; Predictive Value of Tests ; Sensitivity and Specificity

BACKGROUND: Previous Caucasian studies have described venous thromboembolism in pregnancy; however, little is known about its incidence during pregnancy and early postpartum period in the Chinese population. We investigated the risk of venous thromboembolism in a “real-world” cohort of pregnant Chinese women with no prior history of venous thromboembolism. METHODS: In this observational study, 15,325 pregnancies were identified in 14,162 Chinese women at Queen Mary Hospital, Hong Kong between January 2004 and September 2016. Demographic data, obstetric information, and laboratory and imaging data were retrieved and reviewed. RESULTS: The mean age at pregnancy was 32.4±5.3 years, and the median age was 33 years (interquartile range, 29–36 yr). Pre-existing or newly diagnosed diabetes mellitus was present in 627 women (4.1%); 359 (0.7%) women had pre-existing or newly detected hypertension. There was a small number of women with pre-existing heart disease and/or rheumatic conditions. Most deliveries (86.0%) were normal vaginal; the remaining were Cesarean section 2,146 (14.0%). The incidence of venous thromboembolism was 0.4 per 1,000 pregnancies, of which 83.3% were deep vein thrombosis and 16.7% were pulmonary embolism. In contrast to previous studies, 66.7% of venous thrombosis occurred in the first trimester. CONCLUSION: Chinese women had a substantially lower risk of venous thromboembolism during pregnancy and the postpartum period compared to that of Caucasians. The occurrence of pregnancy-related venous thromboembolism was largely confined to the early pregnancy period, probably related to the adoption of thromboprophylaxis, a lower rate of Cesarean section, and early mobilization.
Asian Continental Ancestry Group ; Cesarean Section ; Cohort Studies ; Diabetes Mellitus ; Early Ambulation ; Female ; Heart Diseases ; Hong Kong ; Humans ; Hypertension ; Incidence ; Observational Study ; Postpartum Period ; Pregnancy ; Pregnancy Trimester, First ; Pregnant Women ; Pulmonary Embolism ; Venous Thromboembolism ; Venous Thrombosis

Adult ; Autoantibodies ; immunology ; Common Variable Immunodeficiency ; diagnosis ; etiology ; Female ; Humans ; Interferon-gamma ; immunology ; Penicillium ; pathogenicity