Ching-Sung Lin

An aberrant renal artery arising from the iliac artery imaged by three‐dimensional power Doppler ultrasonography: a sign of fetal horseshoe kidney

We report the case of a 29-year-old primigravida, referred on the basis of suspected fetal abnormalities following routine ultrasound examination. Detailed ultrasound examination at 32 weeks’ gestation showed a fetus with multiple anomalies, and fetal karyotyping subsequently revealed trisomy 18. An enlarged right kidney was noted, but the contralateral one could not be detected owing to the fetal position. Three-dimensional (3D) power Doppler ultrasound examination with simultaneous grayscale imaging was then performed to make the differential diagnosis of renal malformation. A Toshiba highresolution imaging system (Aplio SSA-770A, Toshiba Co., Japan) with integrated function of acquisition and processing of 3D power Doppler was used. All ultrasound examinations were initiated as two-dimensional (2D) scans using a 3.5-MHz convex linear array transducer. The previously undetectable left kidney was visualized by rotating the volume data and was confirmed by detecting the presence of renal vasculature. The vasculature of the enlarged kidney could be seen (Figure 1); blood was supplied by two renal arteries, along with an aberrant artery arising from the iliac artery, which supplied its lower pole on the same side. The pregnancy was terminated at 33 weeks’ gestation. Autopsy of the neonate confirmed the diagnosis of these fetal anomalies and a horseshoe kidney (Figure 2). Embryological vascular development of the urinary tract is driven by the functional requirements of the organs concerned. Visceral arteries develop adjacent to the organs they supply and follow their relative migration to degenerate afterwards1. Knowledge of the potential variants in renal and renal vascular anatomy is thus indispensable for sonographers who perform and interpret such examinations and enhances their ability to make prenatal diagnoses.

Increased B cell activation is present in JAK2 V617F-mutated, CALR -mutated and triple-negative essential thrombocythemia

Essential thrombocythemia (ET) is a BCL-ABL1-negative myeloproliferative neoplasm. We have reported that increased activated B cells can facilitate platelet production mediated by cytokines regardless JAK2 mutational status in ET. Recently, calreticulin (CALR) mutations were discovered in ~30% JAK2/MPL-unmutated ET and primary myelofibrosis. Here we sought to screen for CALR mutations and to evaluate B cell immune profiles in a cohort of adult Taiwanese ET patients. B cell populations, granulocytes/monocytes membrane-bound B cell-activating factor (mBAFF) levels, B cells toll-like receptor 4 (TLR4) expression and intracellular levels of interleukin (IL)-1β/IL-6 and the expression of CD69, CD80, and CD86 were quantified by flow cytometry. Serum BAFF concentration was measured by ELISA. 48 healthy adults were used for comparison. 19 (35.2%) of 54 ET patients harbored 8 types of CALR exon 9 mutations including 4 (7.4%) patients with concomitant JAK2V617F mutations. Compared to JAK2V617F mutation, CALR mutations correlated with younger age at diagnosis (p=0.04), higher platelet count (p=0.004), lower hemoglobin level (p=0.013) and lower leukocyte count (p=0.013). Multivariate analysis adjusted for age, sex, follow-up period and hematological parameters confirmed that increased activated B cells were universally present in JAK2-mutated, CALR-mutated and triple-negative ET patients when compared to healthy adults. JAK2- and CALR-mutated ET have significantly higher fraction of B cells with TLR4 expression when compared to triple-negative ET (p=0.019 and 0.02, respectively). CALR-mutated ET had significantly higher number of CD69-positive activated B cells when compared to triple-negative ET (p=0.035). In conclusion, increased B cell activation is present in ET patients across different mutational subgroups.