A BAFfling liver aspirate: Metastatic high grade SMARCA4 deficient undifferentiated gastroesophageal junction carcinoma masquerading as a hematolymphoid malignancy

Undifferentiated malignant SMARCA4‐deficient neoplasms are rare, recently characterized, high grade, potentially lethal malignancies. Such tumors are characterized by the loss of BRG1 encoded by SMARCA4, a key component of the Switch/Sucrose Non‐Fermenting (SWI/SNF) chromatin remodeling complex. As this complex, also referred as BAF (BRG1/BRM associated factors) complex, is involved in the epigenetic control of hundreds of genes, including those involved in lineage‐specific differentiation, BAF‐deficient tumors, show minimal or no differentiation and are difficult to classify. Their fine needle aspiration (FNA) cytologic features are still poorly defined. Here, we describe a 70‐year‐old man who presented with thickening of the wall of the distal esophagus and stomach and multiple liver and lung lesions. Liver FNA showed relatively uniform dispersed malignant cells with high nucleus: cytoplasm ratio, scant microvacuolated cytoplasm, eccentric nuclei and prominent nucleoli. Mitoses, necrotic debris, nuclear streak artifact, “ghost cells” and focal rhabdoid cytoplasmic inclusions were also present. The liver core biopsy and GI biopsies demonstrated sinusoidal and respectively submucosal involvement by a high grade undifferentiated malignant neoplasm. The tumor cells were negative for all applied markers on immunohistochemistry and flow cytometry, and only showed CD138 and weak PAX5 staining. After an initial diagnosis of hematolymphoid neoplasm, additional stains showed intact INI1 protein and loss of BRG1 protein immunoexpression, establishing the accurate diagnosis. This case highlights the difficulties and potential pitfalls encountered in the FNA diagnosis of BAF‐deficient tumors, the accurate diagnosis of which is important due to their lack of response to conventional therapy and potential response to targeted therapy.     

Assessment of left ventricular diastolic function with Doppler tissue imaging: effects of preload and place of measurements

Mitral inflow velocities are widely used for the evaluation of left ventricular (LV) diastolic function. However, they are closely affected by other factors such as preload. The purpose of this study was to evaluate the usefulness of tissue Doppler velocities obtained from the mitral annulus for the evaluation of ventricular relaxation in patients under different loading conditions. We also evaluated the effect of preload at different sides on the mitral annulus. The study population consisted of 62 consecutive patients (38 male, 24 female with a mean age of 42 ± 13 years) who have undergone hemodialysis. Both mitral inflow velocities (E wave, A wave, E wave deceleration time and isovolumetric relaxation time) and mitral annulus tissue Doppler velocities (E, A) from the septal, lateral, anterior, posterolateral and inferior sides of the mitral annulus were measured immediately before and after hemodialysis. Mitral inflow E and A wave velocities and E/A ratio decreased significantly (p < 0.001, p = 0.007, p < 0.001, respectively) after hemodialysis. Mitral annulus E wave velocities and E/A ratios obtained from five different sides of the annulus also changed significantly (p < 0.001 for all); however, there was no change in the A wave velocity (p > 0.05 for all) after hemodialysis. The decrease in E wave and E/A ratio in mitral inflow measurements and E velocities and E/A ratios in tissue Doppler measurements were correlated with the amount of fluid extracted (for mitral inflow E wave, r = 0.392, p = 0.002 and E/A ratio, r = 0.280 and p = 0.027; for lateral side E, r = 0.329, p = 0.009 and E/A ratio, r = 0.286, p = 0.04; for septal side E, r = 0.376, p = 0.003 and E/A ratio, r = 0.297, p = 0.019; for anterior side E, r = 0.342, p = 0.007 and E/A ratio, r = 0.268, p = 0.035; for posterolateral side E, r = 0.423, p = 0.001 and E/A ratio, r = 0.343, p = 0.007; and for inferior side E, r = 0.326, p = 0.01 and E/A ratio, r = 0.278, p = 0.029). We conclude that mitral annular velocities obtained by tissue Doppler are preload dependent parameters for the evaluation of LV diastolic function.     

Macular pigment optical density change analysis in primary open-angle glaucoma and pseudoexfoliation glaucoma

International Ophthalmology - We aimed to investigate whether macular pigment optical density (MPOD) has a diagnostic value by comparing MPOD and retinal nerve fiber layer (RNFL), ganglion cell...     

Effect of infertility on quality of life of women: a validation study of the Turkish FertiQoL

The fertility quality of life (FertiQoL) measure specifically evaluates the impact of fertility problems in various life areas. The aim of this study was to examine the relationship between FertiQoL and the hospital anxiety and depression scale (HADS) in the Turkish population. All female patients who underwent various fertility treatments in our infertility clinic from May 2011 to May 2014 were approached to participate in the study and 389 completed the questionnaires. Our results showed that the four core scales of the FertiQoL measure had a Cronbach’s α value that was between 0.70 and 0.89. Two scales (anxiety and depression) of HADS both had a Cronbach’s α value of 0.80. These values present a reliable usage of FertiQoL and HADS measures (α?>?0.60). Significant negative correlations were found between the FertiQoL scales and HADS scales, ranging from ?0.27 (between relational scale of FertiQoL and anxiety scale of HADS) to ?0.65 (between mind–body scale of FertiQoL and depression scale of HADS). The results of this study provide supportive data to confirm that the Turkish version of FertiQol can accurately evaluate QoL in women who seek fertility treatment in Turkey.