Subvulvarni leiomiosarkom u krave simentalske pasmine - prikaz slučaja

In this case, a mass located subcutaneously in the perineal subvulvar region of a six-year-old Simmental cow was examined clinically, pathomorphologically and immunohistochemically. Macroscopically, the solitary, hitishyellow- tumor mass was 19x15x6 cm in size, weighed 1610 grams, and had a lobular structure with a few small cystic formations in the section. Histopathological examination revealed that the tumor parenchyma had smooth muscle-like cells with abundant cytoplasm, pleomorphic cells with blunt-ended or cigar-shaped nuclei, anisocytosis, anisokaryosis and karyomegaly. Immunohistochemically, strong positive expression for α-SMA, vimentin, Ki67 and slight positive for desmin were found, while immulolabeling for pancytokeratin (AE1/AE3), S-100, CD31 and CD34 were negative. In conclusion, on the basis of these findings, the tumor was diagnosed as leiomyosarcoma.U šest godina stare krave simentalske pasmine klinički, patomorfološki i imunohistokemijski obrađena je tvorba smještena supkutano u perinealnoj subvulvarnoj regiji. Solitarna, žutobjelkasta tumorska tvorba bila veličine 19 x 15 x 6 cm i težila je 1610 g. U režnjevitoj građi uočeno je nekoliko manjih cističnih formacija. Histopatološka pretraga pokazala je da tumor parenhima ima stanice nalik na glatke mišićne stanice s obilnom citoplazmom i pleomorfne stanice sa zaobljenom jezgrom ili jezgrom u obliku cigare, te s anizocitozom, anizokariozom i kariomegalijom. Imunohistokemijski je pronađena jaka pozitivna ekspresija za α-SMA, vimentin, Ki67 i slabo pozitivna za dezmin, dok je imunoobilježavanje za pancitokeratin (AE1/AE3), S-100, CD31 i CD34 bilo negativno. Na temelju ovih rezultata zaključujemo da se radi o tumoru leiomiosarkomu

The Effect of Supplementary Feeding with Different Pollens in Autumn on Colony Development under Natural Environment and In Vitro Lifespan of Honey Bees

Simple Summary In the present study, the effect of feeding with pollen sources with different protein content on colony performance, wintering ability and in-vitro longevity of colonies that weakened after feeding with pine honey in autumn or that needed to enter the winter period were investigated. The experiment was carried out in 48 colonies divided into six groups as follows: control, syrup, mixed pollen, Cistus creticus pollen (Pink rock-rose), Papaver somniferum pollen (Opium poppy), and commercial bee cake group. The effect of nutritional differences on survival was found to be statistically significant in vitro and this supports the colony results in the natural environment. As a result, P. somniferum pollen is a good preference to be used in feeding colonies in beekeeping, due to its rich nutritional content. Honey bees need pollen and nectar sources to survive in nature. Particularly, having young bees in colonies is vital before wintering, and proper feeding is necessary to achieve this. In the present study, the effect of feeding with pollen sources of different protein content on colony performance, wintering ability and in-vitro longevity of colonies that weakened after feeding with pine honey in autumn, or that needed to enter the winter period, was investigated. The experiment was carried out in 48 colonies divided into six groups as follows: control, syrup, mixed pollen, Cistus creticus pollen (Pink rock-rose), Papaver somniferum pollen (Opium poppy), and commercial bee cake groups. In particular, the P. somniferum pollen group was different (p < 0.01) from the other experiment groups with the number of bee frames (3.44), the area with brood (1184.14 cm(2)) and the wintering ability of 92.19%. The effect of nutritional differences on survival was found to be statistically significant in vitro and this supports the colony results in the natural environment (p < 0.001). The P. somniferum group has the longest longevity with 23 days. Pollen preferences of honey bees were P. somniferum, C. creticus, and mixed pollen, respectively.Pollen Preferences of Honey bees [TAGEM/HAYSUD/B/20/A4/P5/1890]; Turkish Ministry of Agriculture and Forestry, General Directorate of Agricultural Research and Policies (TAGEM)This article was produced from the project The Pollen Preferences of Honey bees and the Effects of Pollen Use inWinter on Colony Dynamic (TAGEM/HAYSUD/B/20/A4/P5/1890) supported by The Turkish Ministry of Agriculture and Forestry, General Directorate of Agricultural Research and Policies (TAGEM)

A novel case of autosomal dominant cutis laxa in a consanguineous family : report and literature review

Autosomal dominant cutis laxa (ADCL, OMIM # 123700) is a rare connective tissue disorder characterized by loose, redundant skin folds that may be apparent form birth or appear later in life. Most severely affected areas are the neck, axillar regions, trunk, and groin. Typically, patients present with characteristic facial features including a premature aged appearance, long philtrum, a high forehead, large ears, and a beaked nose. Cardiovascular and pulmonary complications include bicuspid aortic valves, aortic root dilatation, and emphysema. Sporadically, these complications have been documented to cause premature death. Several rare findings including urogenital anomalies and gastroesophageal problems can be also occur. Most patients harbor a frameshift mutation in one of the five last exons of the ELN gene (ADCL1, OMIM # 123700), whereas one patient was described to have a tandem duplication in the FBLN5 gene (ADCL2, OMIM # 614434). Here, we present a female ADCL patient, from a consanguineous family, with a novel mutation in ELN and review 39 previously reported ADCL patients. All patients have various skin findings, whereas cardiovascular, pulmonary findings, and multiple hernia were present in 61, 28, and 38% of patients, respectively. Strabismus, urogenital anomalies, gastroesophageal problems, and scoliosis may rarely be present. A clear definition of the ADCL syndrome can enable more accurate genetic counseling. Clin Dysmorphol 26:142-147 Copyright (C) 2017 Wolters Kluwer Health, Inc. All rights reserved

Genes That Affect Brain Structure And Function Identified By Rare Variant Analyses Of Mendelian Neurologic Disease

Development of the human nervous system involves complex interactions among fundamental cellular processes and requires a multitude of genes, many of which remain to be associated with human disease. We applied whole exome sequencing to 128 mostly consanguineous families with neurogenetic disorders that often included brain malformations. Rare variant analyses for both single nucleotide variant (SNV) and copy number variant (CNV) alleles allowed for identification of 45 novel variants in 43 known disease genes, 41 candidate genes, and CNVs in 10 families, with an overall potential molecular cause identified in >85% of families studied. Among the candidate genes identified, we found PRUNE, VARS, and DHX37 in multiple families and homozygous loss-of-function variants in AGBL2, SLC18A2, SMARCA1, UBQLN1, and CPLX1. Neuroimaging and in silico analysis of functional and expression proximity between candidate and known disease genes allowed for further understanding of genetic networks underlying specific types of brain malformations.WoSScopu

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

Development of the human nervous system involves complex interactions among fundamental cellular processes and requires a multitude of genes, many of which remain to be associated with human disease. We applied whole exome sequencing to 128 mostly consanguineous families with neurogenetic disorders that often included brain malformations. Rare variant analyses for both single nucleotide variant (SNV) and copy number variant (CNV) alleles allowed for identification of 45 novel variants in 43 known disease genes, 41 candidate genes, and CNVs in 10 families, with an overall potential molecular cause identified in >85% of families studied. Among the candidate genes identified, we found PRUNE, VARS, and DHX37 in multiple families and homozygous loss-of-function variants in AGBL2, SLC18A2, SMARCA1, UBQLN1, and CPLX1. Neuroimaging and in silico analysis of functional and expression proximity between candidate and known disease genes allowed for further understanding of genetic networks underlying specific types of brain malformations. VIDEO ABSTRACT.publisher: Elsevier articletitle: Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease journaltitle: Neuron articlelink: http://dx.doi.org/10.1016/j.neuron.2015.09.048 content_type: article copyright: Copyright © 2015 Elsevier Inc. All rights reserved.status: publishe