阿魏酸对视网膜色素变性小鼠血浆内皮素-1表达的影响

目的　研究不同浓度阿魏酸作用下,出生后不同时期的视网膜色素变性（ｒｅｔｉｎｉｔｉｓｐｉｇｍｅｎｔｏｓａ,ＲＰ）动物模型（ｒｄ小鼠）血浆中内皮素－１（ｅｎｄｏｔｈｅｌｉｎ－１,ＥＴ－１）动态表达特征,探讨阿魏酸对ｒｄ小鼠表达ＥＴ－１的作用特点。方法　取新出生的ｒｄ小鼠９０只及Ｃ５７／ＢＬ６小鼠１８只,按照阿魏酸灌胃浓度的不同分成４组,０．２５ｇ? Ｌ－１组、０．５０ｇ? Ｌ－１组、０．７５ｇ?Ｌ－１组、１．００ｇ?Ｌ－１组,每组再按照给药时间分为２周组、３周组、４周组,以上１２组为药物处理组,每组各６只。相同周龄的ｒｄ小鼠各６只不作处理作为病变对照组,相同周龄的Ｃ５７／ＢＬ６小鼠各６只作为正常对照组。ＥＬＩＳＡ法检测血浆ＥＴ－１浓度。结果　２周组、３周组、４周组病变对照组小鼠ＥＴ－１浓度均高于正常对照组,尤其３周组、４周组与正常对照组相比差异有统计学意义（Ｐ＝０．０２４、０．０１０）。经阿魏酸治疗后２周时,０．５０ｇ?Ｌ－１组、０．７５ｇ?Ｌ－１组ＥＴ－１水平低于病变对照组,但差异无统计学意义;３周时,０．２５ｇ?Ｌ－１组、０．５０ｇ?Ｌ－１组、０．７５ｇ?Ｌ－１组ＥＴ－１水平低于病变对照组,其中０．５０ｇ?Ｌ－１组差异有统计学意义（Ｐ＝０．０３４）;４周时,０．２５ｇ?Ｌ－１组、０．５０ｇ?Ｌ－１组、０．７５ｇ?Ｌ－１组ＥＴ－１水平低于病变对照组,差异均有统计学意义（Ｐ＝０．０１１、０．０２７、０．０２１）。各浓度治疗组中,仅１．００ｇ?Ｌ－１组治疗３周和４周时与正常对照组相比差异有统计学意义（Ｐ＝０．０１３、０．００９）。结论　ｒｄ小鼠在病变过程中,血浆ＥＴ－１水平明显升高,可能与ＲＰ的发生发展有关。在不同浓度阿魏酸治疗下,ｒｄ小鼠ＥＴ－１水平不同程度下降,其中０．５０ｇ?Ｌ－１、０．７５ｇ?Ｌ－１治疗效果最明显。     

Cholestasis,ascites and pancytopenia in an immunocompetent adult with severe cytomegalovirus hepatitis

Human cytomegalovirus (CMV) is a herpesvirus, which establishes lifelong latency after primary infection and leads to severe disease in immunocompromised patients. However, CMV infection in immunocompetent patients is usually asymptomatic and severe organ damage is rarely reported. We report a case of severe CMV hepatitis in an immunocompetent patient presenting with cholestasis, portal hypertension-related ascites and pancytopenia. The patient was asymptomatic with normal liver function and negative CMV DNA after two weeks of antiviral therapy. This case is an example of a common infection with an uncommon presentation, and suggests that testing for CMV should be carried out, even in patients with normal immune status, presenting with severe liver damage or cholestasis.     

Laboratory assessment and diagnosis of congenital viral infections: Rubella, cytomegalovirus (CMV), varicella-zoster virus (VZV), herpes simplex virus (HSV), parvovirus B19 and human immunodeficiency virus (HIV)

Viral infections during pregnancy may cause fetal or neonatal damage. Clinical intervention, which is required for certain viral infections, relies on laboratory tests performed during pregnancy and at the neonatal stage. This review describes traditional and advanced laboratory approaches and testing methods used for assessment of the six most significant viral infections during pregnancy: rubella virus (RV), cytomegalovirus (CMV), varicella-zoster virus (VZV), herpes simplex virus (HSV), parvovirus B19 and human immunodeficiency virus (HIV). Interpretation of the laboratory tests results according to studies published in recent years is discussed.     

Decreased sleep quality in patients suffering from retinitis pigmentosa

The purpose of this study was to assess the prevalence of sleep disturbance in subjects diagnosed with retinitis pigmentosa (RP), as well as the influence of age and gender. Sleep quality was assessed, by means of the Pittsburgh Sleep Quality Index (PSQI), in people with RP (n=177) and gender-and age-matched normally sighted individuals (n=491). The population was divided, according to their age, in eight decade groups. People on shift-work, with affective disorders or with visual impairment other than RP, were excluded. The influence of cataracts in sleep quality was also studied in non-RP people (n=57), with cataracts significantly impairing visual acuity. Another group of healthy controls (n=190) was studied in different seasons of the year for a possible seasonality in sleep disturbance. Global sleep quality decreased in an age-dependent manner in RP-patients, especially from the second decade of life. Retinitis pigmentosa-patients showed, in relation to age-matched controls: lower subjective sleep quality and efficiency, longer sleep latency, shorter sleep duration, higher daytime dysfunction and a higher use of sleeping medication. No significant differences in sleep quality were found among RP-patients or controls depending either on their gender or on the presence of cataracts. Normal sighted individuals did not show seasonality in their sleep quality. We conclude that the sleep quality of RP-patients decreases in an age-dependent manner and points to the probably degeneration of photoreceptors mediating the photic input to the suprachiasmatic nuclei of the hypothalamus in this disease.     

Phenotypic diversity of cytomegalovirus DNA polymerase gene variants observed after antiviral therapy

BackgroundCytomegalovirus UL54 DNA polymerase mutations observed in clinical specimens are of diagnostic significance if confirmed to affect antiviral drug susceptibility.ObjectivesValidate an updated recombinant phenotyping method to determine the degree of drug resistance conferred by previously uncharacterized UL54 sequence variants, in comparison with known resistance-related mutations.Study designBacterial artificial chromosome clones of viral DNA were mutagenized by recombination, transfected to produce live virus and phenotyped by standardized reporter-based yield reduction assays.ResultsSixteen recombinant viruses were constructed, representing baseline sequences, known resistance-related mutations and amino acid changes of unproven significance from clinical specimens. Phenotypes of baseline strains and known mutants were comparable to results from prior methods and helped to resolve some published inconsistencies. Mutations F412L, F412S, L545W were newly confirmed to confer ganciclovir and cidofovir resistance, while Q578H conferred ganciclovir and foscarnet resistance with borderline cidofovir resistance. Some foscarnet-resistant mutants were appreciably growth-retarded.ConclusionsResults add to known exonuclease domain mutations that confer ganciclovir-cidofovir cross-resistance, polymerase domain mutations that confer foscarnet resistance with variably decreased ganciclovir/cidofovir susceptibility, and increase the list of sequence variants with no measurable impact on drug susceptibility. The phenotypic diversity of similar UL54 genotypic variants complicates the interpretation of genotypic resistance testing. Technical improvements are facilitating the phenotyping of remaining unknown sequence variants.     

CD28 positive,cytomegalovirus specific cytotoxic T lymphocytes as a novel biomarker associated with cytomegalovirus viremia in kidney allorecipients

BackgroundCMV infection remains major complication after kidney transplantation, thus diagnostics tools that would improve identification of individuals at risk of development of CMV − related complications are useful. For this reason, searching for proper immunological biomarkers candidates gives hope to individualize antiviral therapy and minimize side effects of antiviral drugs.ObjectivesThe purpose of this research was to assess immune assays that can be used to predict the likelihood of CMV viremia after kidney allotransplantation.Study designIn the study, immunological markers of CMV viremia were assessed in 52 kidney transplant recipients during two years lasting follow–up. Immunological markers associated with viral infection, like lymphocytosis, cytotoxic T lymphocytes (CTL) and serum cytokines levels were compared with less common immunological assays, like activated T lymphocytes, CMV-specific CTL stratified according to naïve/memory phenotype. The test to assess expression of CD28 antigen on CTL, as a possible additional marker of CMV-specificity, was developed.ResultsCD28-positive CMV-specific CTL have been found the most useful marker for CMV viremia prediction. Tested value of 3 cells/μl was found to be most suitable for CMV activation assessment with acceptable sensitivity and specificity.DiscussionThis preliminary report suggests that CD28-positive CMV-specific CTL could be put at the first line, as possible novel marker associated with CMV viremia development.     

Hybrid monovision therapy in a patient with retinitis pigmentosa

A 41-year-old female was diagnosed with retinitis pigmentosa (RP) after bilateral implantation of multifocal intraocular lenses (IOLs). Due to persistent dissatisfaction with her visual performance, she came to our hospital for medical help. We exchanged the multifocal IOL in the dominant eye with a monofocal IOL (hybrid monovision therapy), and the visual inconvenience was alleviated to a large extent. To our knowledge, this is the first case report on the effect of hybrid monovision therapy applied to a patient with RP.     

Audiometric and Ophthalmological Findings in Rubella Deafness

In an attempt to study the relevance of ophthalmological changes to the diagnosis of cochlear hearing impairment due to fetal rubella infection, a survey of the literature combined with a clinical investigation was carried out. Based on the investigation of 57 patients, 31% had congenital hearing impairment due to fetal rubella infection. Of these patients, 61% had typical rubella retinal changes. In the remaining 69%, ophthalmoscopy revealed no abnormality, except in 1 patient. As the cause of the hearing impairment in this patient was unknown, it was concluded that the mother had suffered from subclinical rubella infection in the first trimester of her pregnancy.

It is concluded that rubella retinitis is found with such a high incidence in rubella children that it can be used as a tool in the diagnosis of cochlear hearing impairment due to fetal rubella infection. Patients with congenital hearing impairment ought to undergo a routine ophthalmoscopy which will detect eventual pigmentary changes.     

Retinitis Pigmentosa Sine Pigmento Mimicking a Chiasm Disease

A 75-year-old woman presented to her ophthalmologist complaining of visual loss for several years. The ophthalmic examination was remarkable for a bitemporal visual field defect. Magnetic resonance imaging (MRI) scan of the brain was normal without evidence of chiasm compression. Neuro-ophthalmic examination was consistent with a retinal rather than a chiasmal disease. Retinal multimodal imaging helped in the correct diagnosis of retinitis pigmentosa, later confirmed by genetic testing.