Incidence of venous thromboembolism in Korea: from the Health Insurance Review and Assessment Service database

Summary. Background: Venous thromboembolism (VTE), including deep vein thrombosis (DVT) and pulmonary embolism (PE), represents a major health concern in Caucasians. Although the incidence of VTE is generally known to be lower in Asians than in Caucasians, results of epidemiologic studies among Asians have been conflicting. In this study we performed a nationwide population‐based epidemiologic study to provide basic information regarding the incidence of VTE in the Korean population. Methods: Using the Korean Health Insurance Review and Assessment Service (HIRA) database, VTE patients from 2004 to 2008 were retrospectively identified by both diagnostic codes and medication codes for drugs used in initial treatment of VTE. Results: The respective age‐ and sex‐adjusted annual incidences of VTE, DVT and PE per 100 000 individuals increased significantly from 8.83, 3.91 and 3.74 in 2004 to 13.8, 5.31 and 7.01 in 2008 (P = 0.0001), with successive increments each year. All three annual incidences also increased steadily with age (P = 0.0001 for all), particularly among those over 60 years old. Conclusions: This represents the largest epidemiologic study that demonstrates a lower incidence of VTE in Asian compared with Western populations; however, it also demonstrates a yearly increasing incidence of VTE in the Korean population.     

Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency

Aortic dilatation/dissection (AD) can occur spontaneously or in association with genetic syndromes, such as Marfan syndrome (MFS; caused by FBN1 mutations), MFS type 2 and Loeys–Dietz syndrome (associated with TGFBR1/TGFBR2 mutations), and Ehlers–Danlos syndrome (EDS) vascular type (caused by COL3A1 mutations). Although mutations in FBN1 and TGFBR1/TGFBR2 account for the majority of AD cases referred to us for molecular genetic testing, we have obtained negative results for these genes in a large cohort of AD patients, suggesting the involvement of additional genes or acquired factors. In this study we assessed the effect of COL3A1 deletions/duplications in this cohort. Multiplex ligation-dependent probe amplification (MLPA) analysis of 100 unrelated patients identified one hemizygous deletion of the entire COL3A1 gene. Subsequent microarray analyses and sequencing of breakpoints revealed the deletion size of 3 408 306 bp at 2q32.1q32.3. This deletion affects not only COL3A1 but also 21 other known genes (GULP1, DIRC1, COL5A2, WDR75, SLC40A1, ASNSD1, ANKAR, OSGEPL1, ORMDL1, LOC100129592, PMS1, MSTN, C2orf88, HIBCH, INPP1, MFSD6, TMEM194B, NAB1, GLS, STAT1, and STAT4), mutations in three of which (COL5A2, SLC40A1, and MSTN) have also been associated with an autosomal dominant disorder (EDS classical type, hemochromatosis type 4, and muscle hypertrophy). Physical and laboratory examinations revealed that true haploinsufficiency of COL3A1, COL5A2, and MSTN, but not that of SLC40A1, leads to a clinical phenotype. Our data not only emphasize the impact/role of COL3A1 in AD patients but also extend the molecular etiology of several disorders by providing hitherto unreported evidence for true haploinsufficiency of the underlying gene.     

>CASE REPORT: Eosinophilic colitis with high antibody titre against Ascaris suum

Eosinophilic gastroenteritis (EGE) is an inflammatory disease characterized by eosinophilic infiltration of the gastrointestinal tract accompanied by varying abdominal symptoms and usually by peripheral blood eosinophilia. Although the precise aetiology of EGE remains to be determined, contribution of allergic process to certain allergens, such as foods, drugs and parasites, has been repeatedly proposed as the pathogenesis of the disease. Here we report on a rare case of a woman who had extensive eosinophilic infiltration in the descending and rectal colon with a high titre of IgG antibody against Ascaris suum. The patient was successfully treated with prednisolone.     

Recurrent thyroid carcinoma: characteristics on MR images

Magnetic resonance (MR) imaging was used in 32 patients, including eight with benign disease, after partial or total thyroidectomy to determine sensitivity and specificity of MR imaging in the detection of tumor recurrence, to compare signal intensities of scar versus recurrent tumor qualitatively and quantitatively, and to define the extent of recurrent tumor. Findings from surgery (n = 23), needle biopsy (n = 1), or clinical follow-up (n = 8) were used for verification. Of 24 patients with primary thyroid carcinoma, 15 had recurrence and nine had a normal postsurgical thyroid bed. Diagnosis from MR images was correct in 20 cases, but false positive in three and false negative in one. Local recurrence was characterized by low to medium intensity on short repetition time (TR)/short echo time (TE) images and medium to high intensity on long TR/long TE images. Scar in the normal postsurgical thyroid bed showed low intensity on both short and long TR/TE images. Local recurrence of thyroid carcinoma and lymph node metastasis produced positive contrast compared with muscle on short TR/short TE (31 + 19%) and long TR/long TE (85 + 30%) images; fibrosis produced negative contrast, particularly on long TR/long TE (-56, -80%) images. These results indicate the capability of MR imaging in the evaluation of recurrence of thyroid tumors and in the differentiation of abnormal tissue due to tumor recurrence from postoperative fibrosis by means of signal contrast relative to a reference tissue.     

PHARMACOKINETICS OF PROPOFOL IN WOMEN UNDERGOING ELECTIVE CAESAREAN SECTION

We have compared the pharmacokinetics of a bolus induction doseof propofol 2 mg kg^–1 in 10 Chinese women undergoing electiveCaesarean section with those in six non-pregnant Chinese womenhaving laparoscopic sterilization. Blood propofol concentrationswere measured using high pressure liquid chromatography withfluorimetric detection. Pharmacokinetic data were analysed bya model independent method based on statistical moment theory.Data from the laparoscopy group also underwent compartmentalanalysis, which produced similar kinetic results. Non-compartmentalanalysis estimated that the women undergoing Caesarean sectionhad a similar elimination half-life (mean 81.27 (SD 18.87) min)and apparent volume of distribution at steady state (2.66 (0.63)litre kg^–1) as non-obstetric patients (99.45 (29.40) minand 3.36 (1.87) litre kg^–1). Clearance was more rapidin the Caesarean section group (39.32 (8.07) ml min^–1kg^–1 vs 29.40 (8.72) ml min^–1 kg^–1) (P <0.05). The increased total body clearance may result from bloodloss and delivery of the fetus and placenta at operation, althoughan increase in extrahepatic clearance is also possible ^*Department of Anaesthesia, North West Regional Health Authority,Manchester     

RESERVE ALBUMIN AND BILIRUBIN TOXICITY INDEX IN INFANT SERUM

ABSTRACT. Reserve albumin concentration (the concentration of albumin available for binding of unconjugated bilirubin) was determined in 95 sera from 76 subjects by dialysis with ¹⁴C-monoacetyl diamino diphenyl sulfone (MADDS). An index, I of bilirubin toxicity in the plasma was calculated for each subject, based on the bilirubin and reserve albumin concentrations, the affinity of bilirubin for serum albumin, and the pH-dependent solubility of bilirubin in the plasma. The values of reserve albumin and of I varied significantly with gestational age, clinical condition (whether sick or well), and serum bilirubin level. The value of reserve albumin was decreased and I was increased in association with clinical factors (e. g., hyperbilirubinemia, hypoxia, acidosis, or sepsis) recognized as increasing the risk for bilirubin encephalopathy. The lowest values of reserve albumin and the highest values of I were found in the least mature and sickest infants.