RESUMO
AIM: To evaluate the prevalence, clinical features, and the factors affecting onset of strabismus and nystagmus in patients with bilateral congenital cataracts. METHODS: This study evaluated 116 eyes of 58 patients who underwent lens removal for the treatment of bilateral congenital cataracts between January 1999 and January 2011. The presence and type of strabismus and nystagmus were determined before and after surgery. Type of strabismus and final visual acuity were compared in patients with and without nystagmus. Patients were divided into three groups (orthotropia/orthotropia, orthotropia/strabismus, and strabismus/strabismus) according to their preoperative and postoperative ocular alignment. Age at cataract surgery and associations of nystagmus and primary intraocular lens (IOL) implantation with strabismus were analyzed. RESULTS: Six patients (10.3%) had strabismus preoperatively and an additional 11 (19.0%) developed postoperative strabismus. Exotropia was more common than esotropia both preoperatively and postoperatively. Eighteen patients (31.0%) had postoperative nystagmus, with sensory nystagmus being the most common type. Of the 18 patients with nystagmus, 10 had strabismus, with exotropia being more common than esotropia. Postoperative visual acuity was poor in patients with nystagmus. Age at cataract surgery and rate of primary IOL implantation were significantly lower, and postoperative nystagmus was more common, in the orthotropia/strabismus group than in the other two groups. CONCLUSION: Exotropia and sensory nystagmus are common in patients with bilateral congenital cataracts. Age at cataract surgery and rate of IOL implantation are lower and nystagmus more common in patients with postoperative onset of strabismus. Nystagmus is associated with poor visual prognosis.
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To investigate the role of Roquin, a RING-type ubiquitin ligase family member, we used transgenic mice with enforced Roquin expression in T cells, with collagen-induced arthritis (CIA). Wild-type (WT) and Roquin transgenic (Tg) mice were immunized with bovine type II collagen (CII). Arthritis severity was evaluated by clinical score; histopathologic CIA severity; proinflammatory and anti-inflammatory cytokine levels; anti-CII antibody levels; and populations of Th1, Th2, germinal center B cells, and follicular helper T cells in CIA. T cell proliferation in vitro and cytokine levels were determined to assess the response to CII. Roquin Tg mice developed more severe CIA and joint destruction compared with WT mice. Production of TNF-α, IFN-γ, IL-6, and pathogenic anti-collagen CII-specific IgG and IgG2a antibodies was increased in Roquin Tg mice. In addition, in vitro T cell assays showed increased proliferation and proinflammatory cytokine production in response to CII as a result of enforced Roquin expression in T cells. Furthermore, the Th1/Th2 balance was altered by an increased Th1 and decreased Th2 population. These findings suggest that overexpression of Roquin exacerbates the development of CIA and that enforced expression of Roquin in T cells may promote autoimmune diseases such as CIA.
Assuntos
Artrite Experimental/imunologia , Proliferação de Células , Regulação da Expressão Gênica/imunologia , Células Th1/imunologia , Células Th2/imunologia , Ubiquitina-Proteína Ligases/imunologia , Animais , Artrite Experimental/genética , Artrite Experimental/metabolismo , Artrite Experimental/patologia , Linfócitos B/imunologia , Linfócitos B/metabolismo , Linfócitos B/patologia , Bovinos , Citocinas/biossíntese , Citocinas/genética , Citocinas/imunologia , Regulação da Expressão Gênica/genética , Centro Germinativo/imunologia , Centro Germinativo/metabolismo , Centro Germinativo/patologia , Imunoglobulina G/biossíntese , Imunoglobulina G/genética , Imunoglobulina G/imunologia , Camundongos , Camundongos Transgênicos , Índice de Gravidade de Doença , Células Th1/metabolismo , Células Th1/patologia , Células Th2/metabolismo , Células Th2/patologia , Ubiquitina-Proteína Ligases/biossíntese , Ubiquitina-Proteína Ligases/genéticaRESUMO
Somatic cell nuclear transfer (SCNT) has been established for the transmission of specific nuclear DNA. However, the fate of donor mitochondrial DNA (mtDNA) remains unclear. Here, we examined the fate of donor mtDNA in recloned pigs through third generations. Fibroblasts of recloned pigs were obtained from offspring of each generation produced by fusion of cultured fibroblasts from a Minnesota miniature pig (MMP) into enucleated oocytes of a Landrace pig. The D-loop regions from the mtDNA of donor and recipient differ at nucleotide sequence positions 16050 (AâT), 16062 (TâC), and 16135 (GâA). In order to determine the fate of donor mtDNA in recloned pigs, we analyzed the D-loop region of the donor's mtDNA by allele-specific PCR (AS-PCR) and real-time PCR. Donor mtDNA was successfully detected in all recloned offspring (F1, F2, and F3). These results indicate that heteroplasmy that originate from donor and recipient mtDNA is maintained in recloned pigs, resulting from SCNT, unlike natural reproduction.
Assuntos
Clonagem de Organismos , DNA Mitocondrial/genética , Técnicas de Transferência Nuclear , Porco Miniatura/genética , Animais , Sequência de Bases , DNA Mitocondrial/análise , DNA Mitocondrial/química , Fibroblastos/metabolismo , Dados de Sequência Molecular , Conformação de Ácido Nucleico , Oócitos/metabolismo , SuínosRESUMO
Animals with a targeted disruption of genes can be produced by somatic cell nuclear transfer (SCNT). However, difficulties in clonal selection of somatic cells with a targeted mutation often result in heterogeneous nuclear donor cells, including gene-targeted and non-targeted cells, and impose a risk of producing undesired wildtype cloned animals after SCNT. In addition, the efficiency of cloning by SCNT has remained extremely low. Most cloned embryos die in utero, and the few that develop to term show a high incidence of postnatal death and abnormalities. In the present study, resurrection of an alpha-1,3-galactosyltransferase (αGT) gene-targeted miniature pig by recloning using postmortem ear skin fibroblasts was attempted. Three cloned piglets were produced from the first round of SCNT, including one stillborn and two who died immediately after birth due to respiratory distress syndrome and cardiac dysfunction. Among the three piglets, two were confirmed to be αGT gene-targeted. Fibroblasts derived from postmortem ear skin biopsies were used as nuclear donor cells for the second round of SCNT, and a piglet was produced. As expected, PCR and Southern analyses confirmed that the piglet produced from recloning was αGT gene-targeted. Currently, the piglet is fourteen months of age, and no overt health problems have been observed. Results from the present study demonstrate that loss of an invaluable animal, such as a gene-targeted miniature pig, may be rescued by recloning, with assurance of the desired genetic modification.
Assuntos
Clonagem de Organismos/veterinária , Galactosiltransferases/genética , Técnicas de Transferência Nuclear/veterinária , Porco Miniatura , Animais , Southern Blotting/veterinária , Clonagem de Organismos/métodos , Orelha , Transferência Embrionária/veterinária , Feminino , Fibroblastos/ultraestrutura , Marcação de Genes/veterinária , Oócitos/fisiologia , Oócitos/ultraestrutura , Reação em Cadeia da Polimerase/veterinária , Gravidez , SuínosRESUMO
OBJECTIVE: Visceral adipose tissue (VAT) is presumed to play an important role in the development of metabolic syndrome (MS). The purpose of this study was to evaluate the influence of measurement location of VAT on the cardiometabolic risk factors and the MS in the Korean population. METHODS: To assess abdominal fat distribution, 5 single-slice computed tomography (CT) images were obtained in 470 healthy subjects. The five CT images were obtained at the intervertebral space from L1 to S1 using known anatomical landmarks. Multiple logistic regression analysis was performed to assess the relationship between regional adipose tissue areas and MS. RESULTS: All risk factors were more closely correlated with VAT than subcutaneous adipose tissue (SAT), except waist circumference and blood pressure. Images located at L2-L3 or L3-L4 provided high correlations between VAT area and all cardiometabolic risk factors. The highest adjusted odds (per SD) between VAT and MS were the L2-L3 image in men (OR 4.53) and the L1-L2 in women (OR 4.87), which was higher than measures at L4-L5 (OR 3.22 in men, OR 4.71 in women). However, differences in OR between L1-L2 VAT (OR 4.87) and L4-L5 (OR 4.71) were not great in women. CONCLUSIONS: The results of this study suggest that VAT has a stronger association with MS than ASAT in Korean population regardless of measurement site, and an image located in the upper abdomen (L2-L3 or L3-L4) would be a better predictor of the relationship between VAT and MS in Korean men.
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Intravascular papillary endothelial hyperplasia (Masson's hemangioma) is a disease characterized by exuberant endothelial proliferation within the lumen of medium-sized veins. In 1923, Masson regarded this disease as a neoplasm inducing endothelial proliferation, however, now it is considered to be a reactive vascular proliferation following traumatic vascular stasis. The lesion has a propensity to occur in the head, neck, fingers, and trunk. Occurrence within the abdominal cavity is known to be very rare, and especially in the liver, there has been no reported case up to date. The authors have experienced intravascular papillary endothelial hyperplasia of the liver in a 69-yr-old woman, and report the case with a review of the literature.