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Gross Abnormality (gross + abnormality)
Selected AbstractsGorham-Stout Disease,Stabilization During Bisphosphonate Treatment,JOURNAL OF BONE AND MINERAL RESEARCH, Issue 2 2005Fabian Hammer Abstract A 45-year-old woman presented with recent onset of left-sided chest pain. On clinical examination, these symptoms seemed to be strictly localized to a region that was marked by a long-standing cutaneous erythematous lesion. Laboratory results showed no gross abnormalities. Radiological imaging including conventional X-ray, MRI scans, and 3D CT reconstruction of the rib cage revealed circumscript destruction of the left lateral ribs 9,11. Histological analysis of a rib biopsy showed angiomatous hypervascularization and intracortical fibrosis. In keeping with these findings, the patient's condition was diagnosed as Gorham-Stout disease, a rare condition with localized, often unilateral, bone destruction. Monotherapy with bisphosphonates (pamidronate 30 mg IV every 3 months) was initiated, leading to rapid disappearance of local pain. Follow-up over 24 months documented a stable clinical and radiological picture without evidence of progressive bone destruction. [source] Mice deficient for RNA-binding protein brunol1 show reduction of spermatogenesis but are fertileMOLECULAR REPRODUCTION & DEVELOPMENT, Issue 11 2007Arvind Dev Abstract RNA-binding proteins are involved in post-transcriptional processes like mRNA stabilization, alternative splicing, and transport. Brunol1 is a novel mouse gene related to elav/Bruno family of genes encoding for RNA-binding proteins. We report here the expression and functional analysis of murine Brunol1. Expression analysis of Brunol1 during embryogenesis by RT-PCR showed that Brunol1 expression starts at 9.5 dpc and continues to the later stages of embryonic development. In adult mice, the Brunol1 expression is restricted to brain and testis. We also analyzed the Brunol1 expression in testes of different mutants with spermatogenesis defects: W/WV, Tfm/y, Leyl,/,, olt/olt, and qk/qk. Brunol1 transcript was detectable in Leyl,/,, olt/olt, and qk/qk mutant but not in W/WV and Tfm/y mutants. We also showed by transfection of a fusion protein of green fluorescent protein and Brunol1 protein into NIH3T3 cells, that Brunol1 is localized in cytoplasm and nucleus. In order to elucidate the function of the Brunol1 protein in spermatogenesis, we disrupted the Brunol1 locus in mouse by homologous recombination, which resulted in a complete loss of the Brunol1 transcript. Male and female Brunol1+/, and Brunol1,/, mice from genetic backgrounds C57BL/6J,×,129/Sv hybrid and 129X1/SvJ when inbred exhibited normal phenotype and are fertile, although the number and motility of sperms are significantly reduced. An intensive phenotypic analysis showed no gross abnormalities in testis morphology. Collectively our results demonstrate that Brunol1 might be nonessential protein for mouse embryonic development and spermatogenesis. Mol. Reprod. Dev. 74: 1456,1464, 2007. © 2007 Wiley-Liss, Inc. [source] Calgizarrin like gene (Cal) deficient mice undergo normal spermatogenesisMOLECULAR REPRODUCTION & DEVELOPMENT, Issue 4 2003Ashraf U. Mannan Abstract The murine calgizzarin like gene (Cal) encodes for a calcium binding protein, which belongs to the S100 family of EF-hand proteins. It is specifically expressed in Sertoli cells in the testis and its expression is down-regulated by unknown factor(s) from spermatocytes/spermatids. In this paper, we show by transfection of a fusion protein of green fluorescent protein and Cal protein into NIH3T3 cells, that the expression of Cal is restricted only in the cytoplasm of the cell. A differentially regulated cytoplasmic expression of the Cal in Sertoli cells during mouse development suggests that Cal might play an important role during spermatogenesis. In order to elucidate the function of the Cal protein in the spermatogenesis, we disrupted the Cal locus in mouse by homologous recombination. In our knockout mouse, we deleted exon 2 and exon 3 of the Cal gene and replaced them with a neomycin cassette, which resulted in a complete loss of the Cal transcript. Male and female Cal4+/, and Cal4,/, mice from genetic backgrounds C57BL/6J,× 129X1/SvJ hybrid and 129X1/SvJ inbred exhibited normal phenotype and were fertile. An intensive phenotypic analysis showed no gross abnormalities in testis morphology. The lack of the Cal protein also does not affect the parameters of sperm, as they are able to fertilize the oocytes in a competent manner, which is comparable to wild-type sperm. Collectively our results demonstrate that Cal is a nonessential protein and it does not play an important role in mouse spermatogenesis or in process of fertilization. Mol. Reprod. Dev. 66: 431,438, 2003. © 2003 Wiley-Liss, Inc. [source] Developmental phenotypes and reduced Wnt signaling in mice deficient for pygopus 2GENESIS: THE JOURNAL OF GENETICS AND DEVELOPMENT, Issue 5 2007Boan Li Abstract Canonical Wnt signaling involves complex intracellular events culminating in the stabilization of ,-catenin, which enters the nucleus and binds to LEF/TCF transcription factors to stimulate gene expression. Pygopus was identified as a genetic modifier of Wg (Wnt homolog) signaling in Drosophila, and encodes a PHD domain protein that associates with the ,-catenin/LEF/TCF complex. Two murine pygopus paralogs, mpygo1 and mpygo2, have been identified, but their roles in development and Wnt signaling remain elusive. In this study, we report that ablation of mpygo2 expression in mice causes defects in morphogenesis of both ectodermally and endodermally derived tissues, including brain, eyes, hair follicles, and lung. However, no gross abnormality was observed in embryonic intestine. Using a BAT-gal reporter, we found Wnt signaling at most body sites to be reduced in the absence of mpygo2. Taken together, our studies show for the first time that mpygo2 deletion affects embryonic development of some but not all Wnt-requiring tissues. genesis 45:318,325, 2007. © 2007 Wiley-Liss, Inc. [source] Three-dimensional sonographic evaluation of the infant spine: Preliminary findingsJOURNAL OF CLINICAL ULTRASOUND, Issue 1 2003Jacqueline A. Hughes MBBS Abstract Purpose The aims of this study were to evaluate normal spinal anatomy in neonates and infants as seen by 3-dimensional sonography (3D US), to determine the value of 3D US in the evaluation of occult spinal dysraphia in infants, and to correlate the findings of 3D US with those of 2-dimensional sonography (2D US) and MRI, when available. Methods We used 2D US and 3D US to examine the lumbosacral spine in infants with cutaneous stigmata, syndromes associated with spinal dysraphia, and abnormal radiographs. We also evaluated, as controls, healthy infants who had no markers of spinal abnormality. 2D sonograms, 3D sonograms, radiographs, and MRI scans, when available, were compared to assess differences in the display of the infant spine. Results In total, we examined 29 infants: 18 subjects and 11 control infants. The correlation between 2D US and 3D US was 100% in the detection of congenital defects of the spinal cord, although 3D US allowed superior visualization of the vertebral bodies and posterior spinal elements. When a gross abnormality of the posterior spinal elements occurred with pathologic overlying soft tissue, interpretation was simpler with MRI than with sonography. Conclusions 3D US is a useful adjunct to 2D US when screening the infant spine for congenital defects, particularly in showing alignment of posterior spinal elements and integrity of vertebral bodies. This ability is important because posterior spinal defects may be associated with underlying spinal cord abnormalities. © 2002 Wiley Periodicals, Inc. J Clin Ultrasound 31:9,20, 2003 [source] Growth performance and tissue mineral content of juvenile grouper (Epinephelus coioides) fed diets supplemented with various levels of manganeseAQUACULTURE NUTRITION, Issue 6 2009C.-X. YE Abstract This study was conducted to investigate the effect of dietary manganese (Mn) on growth, vertebrae and whole-body Mn content of juvenile grouper, and to examine the effect of dietary Mn on copper (Cu), iron (Fe), zinc (Zn), calcium (Ca), phosphorus (P) and magnesium (Mg) content of vertebrae and whole body. Seven casein-gelatin-based diets were supplemented with 0, 5, 10, 15, 20, 50 and 1000 mg kg,1 of Mn from MnSO4·H2O. Grouper with an initial weight of 12.9 ± 0.4 g were fed to satiation with one of the seven diets for 8 weeks. Growth was not significantly affected by dietary Mn supplements. Vertebrae Mn increased from 31.7 to 118.1 mg kg,1 dry weight with dietary Mn supplement increasing from 0 to 50 mg kg,1 (y = ,0.0002x3 + 0.0162x2 + 1.3903x + 26.27, R2 = 0.9561, where y is the vertebrae Mn content and x is the dietary Mn content). Whole-body Mn increased from 2.5 to 7.8 mg kg,1 wet weight with dietary Mn supplement increasing from 0 to 50 mg kg,1 (y = 0.00001x3 , 0.00107x2 + 0.11054x + 2.24615, R2 = 0.9080, where y is the whole-body Mn content and x is the dietary Mn content). Dietary Mn had no significant effect on vertebrae Fe, Ca, P and Mg content, and whole-body Cu, Zn and Mg content. However, vertebrae Zn and whole body Ca, P were highest in fish fed diet supplemented with 15 mg kg,1 of Mn. Based on this, Mn supplement of 15 mg kg,1 might be the optimum when the basal diet contained 4 mg kg,1 of Mn. Fish fed diet supplemented with 1000 mg kg,1 of Mn did not show any gross abnormality or change in feeding behaviour, but Mn contents of vertebrae and whole body were as high as 695.1 mg kg,1 dry weight and 42.5 mg kg,1 wet weight, respectively. Also, whole body Fe decreased significantly when Mn supplement was up to 1000 mg kg,1. [source] Morphometry and abnormalities of the feet of Kaimanawa feral horses in New ZealandAUSTRALIAN VETERINARY JOURNAL, Issue 4 2010BA Hampson Objective The present study investigated the foot health of the Kaimanawa feral horse population and tested the hypotheses that horses would have a large range of foot morphology and that the incidence of foot abnormality would be significantly high. Procedures Abnormality was defined as a variation from what the two veterinarian assessors considered as optimal morphology and which was considered to impact negatively on the structure and/or function of the foot. Fifteen morphometric variables were measured on four calibrated photographic views of all four feet of 20 adult Kaimanawa feral horses. Four morphometric variables were measured from the lateromedial radiographs of the left forefoot of each horse. In addition, the study identified the incidence of gross abnormality observed on the photographs and radiographs of all 80 feet. Results There was a large variation between horses in the morphometric dimensions, indicating an inconsistent foot type. Mean hoof variables were outside the normal range recommended by veterinarians and hoof care providers; 35% of all feet had a long toe conformation and 15% had a mediolateral imbalance. Abnormalities included lateral (85% of horses) and dorsal (90% of horses) wall flares, presence of laminar rings (80% of horses) and bull-nose tip of the distal phalanx (75% of horses). Both hypotheses were therefore accepted. Conclusions The Kaimanawa feral horse population demonstrated a broad range of foot abnormalities and we propose that one reason for the questionable foot health and conformation is lack of abrasive wearing by the environment. In comparison with other feral horse populations in Australia and America there may be less pressure on the natural selection of the foot of the Kaimanawa horses by the forgiving environment of the Kaimanawa Ranges. Contrary to popular belief, the feral horse foot type should not be used as an ideal model for the domestic horse foot. [source] Hepatocellular carcinoma with secondary abscessation in a catAUSTRALIAN VETERINARY JOURNAL, Issue 12 2005M SINGH A 16-year-old castrated male domestic shorthair cat was presented for investigation of weight loss, lethargy, inappetence and polydypsia. On serum biochemical analysis there was evidence of severe hepatocellular damage and cholestasis. Abdominal ultrasonographic examination revealed an irregular lesion of mixed echogenicity in a left hepatic lobe. It was compromised of a hypoechoic periphery surrounding an anechoic central area containing highly echogenic densities with distal acoustic shadowing suggestive of gas formation. On necropsy, the only gross abnormality was a solitary 5 cm×3 cm×3 cm multilobulated mass in the left lateral hepatic lobe, containing foul-smelling purulent fluid within a thick fibrous wall. Cytological examination of the fluid revealed numerous degenerate neutrophils and large numbers of Gram-positive sporeforming rods. The histopathological diagnosis was hepatocellular carcinoma with secondary abscessation. The bacterial morphology was consistent with Clostridia sp. Both hepatocellular carcinoma and focal hepatic abscessation are rare in cats. Hepatic abscesses should be included in the differential diagnosis of cats with non-specific signs, even in the absence of biochemical evidence of a hepatopathy. [source] | |||||||||||||