No abstract

Xp11 (TFE3) translocation renal cell carcinoma (RCC) is officially recognized as a distinct subtype of RCC in the 2004 WHO classification. This neoplasm is characterized by several chromosomal translocations between the TFE3-involving Xp11.2 breakpoint and various fusion partners. To date, five partner genes have been identified, that is, PRCC in 1q21, PSF in 1q34, ASPL in 17q25, CLTC in 17q23, and NONO in Xq12; and three additional translocations have been reported with no partner gene being defined: t(X;3)(p11;q23), t(X;10)(p11;q23), and t(X;19)(p11;q13). Here, we report the identification of a novel TFE3 fusion partner, PARP14 in chromosome band3q21. We used RNA-seq on a 10-year-old FFPE (formalin-fixed, paraffin-embedded) tissue sample, which carried t(X;3)(p11;q23) as detected in the original cytogenetic study. The fusion transcript connected the 5'-end of the first two exons of PARP14 to the 3'-end of five exons of TFE3, which was verified by reverse transcription PCR (RT-PCR) and Sanger sequencing. Similar to other TFE3 fusions previously reported, the predicted PARP14-TFE3 product retains the nuclear localization and DNA-binding domains of TFE3. This finding expands the list of TFE3 translocation partner genes and re-emphasizes the essential oncogenic role of TFE3 fusion proteins in this tumor. Our result also clearly demonstrated the feasibility of identifying chromosomal translocation by RNA-seq in clinical FFPE, which are easily accessible and associated with valuable clinical information. © 2015 Wiley Periodicals, Inc.

No abstract

Deficiency of lecithin:cholesterol acyltransferase, LCAT disease, is one of the dyslipoproteinemias with characteristic lipid deposits in the cornea. The present report documents the clinicopathologic abnormalities of one case in which a full-thickness corneal specimen was removed from a 39-year-old man with LCAT deficiency and was examined by direct and transmission electron microscopy. On light microscopy, numerous variable fine vacuoles noted in all layers but most dense in the anterior stroma associated with separation of the stromal lamellar bundle collagen fibers. Toluidine blue revealed vacuoles in the epithelium, stroma, and endothelium. On electron microscopy, the above findings were confirmed with vacuoles containing finely granular material as well as membrane-bound material in the epithelium, stroma (including keratocytes), and endothelium. Special stains (PAS, trichrome, toluidine blue) and electron microscopy showed vacuolar deposition consistent with keratopathy of hypolipoproteinemia. These observations confirm and supplement the previous case reports of corneal changes in LCAT disease and demonstrate, for the first time, histopathologic evidence of granular material intracellularly within keratocytes and within vacuoles extending down to and involving corneal endothelium.

COVID-19-un ilkin diaqnozu ilə xəstəxanaya qəbul edilmiş, pnevmoniyası və ağır pnevmoniyası olan xəstələrdə bakteriyal və viruslu infeksiya nəzərə alınaraq empirik müalicə planlaşdırılmalıdır. Empirik müalicədə istifadə ediləcək antibiotikin seçimi xəstənin klinik vəziyyətinə (xəstəxanaxaric pnevmoniya, xəstəxanadaxili pnevmoniya, sepsis, yanaşı xəstəliklər, immunsupressiya, son 3 ayda tibb müəssisələrinə tibbi yardım üçün edilən müraciət, daha əvvəl antibiotik istifadəsi), yerli epidemioloji məlumatlara və müalicə təlimatlarına əsasən həyata keçirilir.

В статье рассматривается место музеев в развитии культурного туризма. На примере деятельности Британского музея показана роль современных технологий в организации музейной работы и коммуникации с заинтересованными государственными и частными учреждениями и институтами в вопросе продвижения культурного наследия. Раскрыты направления работы музея с постоянными посетителями и по привлечению потенциальных посетителей. Ключевые слова: Британский музей, потенциальный посетитель (турист), современные технологии, коммуникация, социальные сети.