Результаты поиска

Isolated central diabetes insipidus in a newborn with congenital toxoplasmosis.

We present a 5 day-old male newborn with isolated central diabetes insipidus due to congenital toxoplasmosis. This patient was referred to us for hydrocephalus. As we investigated the aetiology of the hydrocephalus, the patient's serum and cerebrospinal fluid tested positive for toxoplasmosis via ELISA and polymerase chain reaction. Computed tomography showed obstructive hydrocephalus and disseminated cranial calcifications. Central diabetes insipidus developed on the 10th day, apparently as a result of the toxoplasmosis infection, and was treated successfully with oral desmopressin.

Смертельная вирусная инфекция Западного Нила после ритуксимаба/флударабина, вызванная ремиссией лимфомы не Ходжкина.

Заражение вирусом Западного Нила (WNV) потенциально угрожает жизни в иммунокомпромиссных хозятах. В настоящее время лучшим диагностическим тестом является серология. Тест на цепную реакцию полимеразы (RT-PCR) имеет определенную роль, однако, поскольку WNV является нейротропическим вирусом, связанным с клетками, результаты RT-PCR часто являются отрицательными даже в случае активной инфекции. Мы представим случай, когда результаты серологии были неизменно отрицательными, потому что пациент был иммунокомпромиссирован после лечения лимфомы. Обсуждается также роль юморального иммунитета в урегулиро

Совпадение в аннотации оригинала
West Nile virus (WNV) infections are potentially life threatening in immunocompromised hosts. Currently, the best diagnostic test is serology. Reverse-transcriptase polymerase chain reaction (RT-PCR) testing has a role, but, because WNV is a cell-associated neurotropic virus, RT-PCR results are frequently negative even in cases of active infection. We presen…

[Molecular characterization of a new mutation E122G of human ornithine transcarbamylase gene].

OBJECTIVE: To determine the molecular basis of late onset ornithine transcarbamylase (OTC) deficiency in a Chinese family of Han nationality and the exon sequences of OTC gene of this patient. METHODS: Polymerase chain reaction-single strand conformation polymorphism and direct sequencing were used to identify the mutation type. RESULTS: A missense mutation E122G in the conserved residue of exon 4 was identified which is unreported before. CONCLUSION: The E122G mutation in human OTC gene may cause late onset OTC deficiency.

Immune reconstitution syndrome after successful treatment of Pneumocystis carinii pneumonia in a man with human immunodeficiency virus type 1 infection.

We describe a 34-year-old man with human immunodeficiency virus infection who received successful treatment of minimally symptomatic Pneumocystis carinii pneumonia and who subsequently developed diffuse pulmonary infiltrates and hypoxia 2 weeks after initiation of combination antiretroviral therapy. Initial pathologic evaluation of lung-tissue samples revealed no organisms, but a polymerase chain reaction assay was strongly positive for P. carinii DNA. We hypothesize that this patient's clinical presentation denotes immune reconstitution syndrome in response to residual P. carinii antigen in t…

[Progressive multifocal leukoencephalopathy. Role of imaging in its diagnosis. Perspectives].

We review five cases of Progressive Multifocal Leukoencephalopathy (PML), confirmed by biopsy in three cases and by LCR JC virus research by PCR (polymerase chain reaction) in two cases. We analysed the lesions and different forms of imagiological presentation, concerning location, mass effect, contrast enhancement and progress, and emphasize the importance of some atypical patterns. Reference is also made to the role of imaging in its diagnosis and new techniques, such as Spectroscopy and Transfer Magnetization, to avoid brain biopsy.

Acute endogenous endophthalmitis due to Bartonella henselae.

A 45-year-old man presented with progressively worsening vitreitis of 1 week's duration. Treatment for cat-scratch disease 3 years prior to presentation and persistent vitreitis led to vitrectomy, and analysis of the vitrectomy specimen revealed inflammatory cells and necrotic debris; polymerase-chain-reaction analysis of the vitreous fluid sample, done by use of a novel heminested protocol, demonstrated the presence of Bartonella henselae DNA. Treatment with doxycycline led to improvement in the intraocular inflammation but resulted in a poor visual outcome.

CALM-AF10 fusion gene in leukemias: simple and inversion-associated translocation (10;11).

A translocation (10;11)(p12;q14) was observed in two children, one with acute eosinophilic leukemia and the other with acute T-cell lymphoblastic leukemia. The presence of CALM-AF10 fusion was ascertained by reverse transcriptase-polymerase chain reaction (RT-PCR) analysis. Fluorescence in situ hybridization (FISH) analysis showed that AF10 gene splitting was associated with partial inversion of chromosome 11 in the first patient. In addition, FISH analysis also determined the orientation of the CALM gene, 5' telomere to 3' centromere on 11q.

Renin-producing hepatoblastoma.

Renin-producing tumors of extrarenal origin are rare in children. An 8-year-old boy with hepatoblastoma and hypertension associated with a high plasma renin level is reported. After chemotherapy, the plasma renin level normalized and the hypertension spontaneously resolved. The patient underwent surgery, and a right trisegmentectomy of the liver and a partial resection of the second and third segments were performed. The tumor was as shown the source of renin by immunohistochemical study and reverse transcriptase-polymerase chain reaction.

Unidentified parasitic cysts in cattle.

Between February 18, 1995, and July 1, 1996, 38 cysts derived from New Zealand cattle were subjected to a diagnostic polymerase chain reaction (PCR) designed to identify genomic Taenia saginata DNA. No Tsaginata DNA was identified but an amplification product of 1078 bp was obtained consistently from several of the cysts. In Switzerland, suspect Tsaginata cysts are commonly positive for Tsaginata by PCR, but recently three cysts have also given a PCR fragment of 1078 bp, originating from a putatively unknown Taenia species.

Disease attributed to Mycobacterium chelonae in South African clawed frogs (Xenopus laevis).

The fast-growing nontuberculous mycobacterial species Mycobacterium chelonae was isolated from six captive South African clawed frogs (Xenopus laevis) with chronic weight loss and nonhealing ulcerative skin lesions. Three of the M. chelonae isolates were evaluated to confirm the species identification using polymerase chain reaction restriction analysis. Disease associated with M. chelonae is reported mainly in people and in fish. To our knowledge, this is the first report of disease associated with M. chelonae in a colony of captive Xenopus sp.

Single-tube multiplex-PCR screen for common deletional determinants of alpha-thalassemia.

Alpha-thalassemia is very common throughout all tropical and subtropical regions of the world. In Southeast Asia and the Mediterranean regions, compound heterozygotes and homozygotes may have anemia that is mild to severe (hemoglobin [Hb] H disease) or lethal (Hb Bart's hydrops fetalis). We have developed a reliable, single-tube multiplex-polymerase chain reaction (PCR) assay for the 6 most frequently observed determinants of alpha-thalassemia. The assay allows simple, high throughput genetic screening for these common hematological disorders. (Blood. 2000;95:360-362)

Epstein-Barr virus and the nervous system.

The neurological complications of Epstein-Barr virus infection include viral meningitis, encephalitis and neuromuscular complications. The introduction of cerebrospinal fluid polymerase chain reaction for Epstein-Barr virus DNA has improved diagnosis of these conditions and of primary central nervous system lymphoma in acquired immune deficiency syndrome, and has enabled cerebrospinal fluid monitoring of therapy. Prognosis remains good for most Epstein-Barr virus-related neurological complications; for primary central nervous system lymphoma in acquired immune deficiency syndrome the prognosis…

Systemic infection by Pasteurella canis biotype 1 in newborn puppies.

Pasteurella canis biotype 1, usually associated with the oral cavity of dogs and cats, or with human wound infections following dog bites, was isolated from newborn puppies with a fatal systemic infection. The identity of P. canis was confirmed by arbitrarily primed polymerase chain reaction and the organism was susceptible to all the penicillins, cephalosporins, tetracyclines and fluoroquinolones tested and to most of the aminoglycosides tested. This represents the first report of systemic pasteurellosis caused by P. canis in dogs.

Analysis of the Smad2 gene in hematological malignancies.

A total of 34 leukemia and lymphoma samples (17 clinical samples and 17 cell lines) were analyzed for mutations of the Smad2 gene by reverse transcriptase-polymerase chain reaction single strand conformation polymorphism (RT-PCR-SSCP) analysis. Nine of the 34 samples had 18q chromosomal abnormalities. No shifted bands were detected in any of the hematological malignancies. Our results suggest that resistance to cell growth inhibitory effects of TGF-beta in hematological malignancies is not due to alterations of the Smad2 gene.

A novel mutation of the GTP-cyclohydrolase I gene in a patient with hereditary progressive dystonia/dopa-responsive dystonia.

We report a 37-year-old Japanese woman with hereditary progressive dystonia with marked diurnal fluctuation and dopa-responsive dystonia. She developed dystonia in the lower limbs at the age of 11 years, followed by spasmodic torticollis and resting tremor of the feet, which responded remarkably to low doses of levodopa (100 mg/day). Concentrations of biopterin and neopterin in CSF were decreased. Polymerase chain reaction analysis of the guanosine 5'-triphosphate cyclohydrolase I gene revealed a novel mutation (Thr186-->Lys).

Isolation of fungal rDNA from bottlenose dolphin skin infected with Loboa loboi.

Fungal-specific primers targeted for highly conserved genomic nucleic acid sequences were used in a polymerase chain reaction (PCR) to amplify DNA from lobomycosis lesions in a bottlenose dolphin. Sequence alignments of this DNA possessed high homology to fungal ribosomal DNA sequences found in the genus Cladosporium. When used for in situ hybridization, the riboprobe transcribed from a cloned PCR-generated fragment bound to Loboa loboi cells. These results support the hypothesis that L. loboi in dolphin tissue is a fungus.

Biotin-labeled DNA probe in a PCR-based assay increases detection sensitivity for the equine hemoparasite Babesia caballi.

A DNA probe from Babesia caballi (Bc1) was selected by antibody screening of a genomic library. The Bc1 probe hybridized specifically to B. caballi genomic DNA. A polymerase-chain-reaction-based assay for B. caballi DNA was developed from primers deduced from the probe nucleotide sequence. An amplified product of 1.6 kb was detected from as little as 500 fg B. caballi template DNA. Sensitivity increased 1000-fold when the biotin-labeled Bc1 probe was hybridized to the amplicons in a Southern blot.

Simulium damnosum s.l.: isolation and identification of prophenoloxidase following an infection with Onchocerca spp. using targeted differential display.

Phenoloxidase (PO) is the key enzyme for melanin synthesis and plays an important role in the defense and recognition of pathogens in insects and other arthropods. We now report the upregulated transcription of the gene encoding the precursor of PO, prophenoloxidase, in Onchocerca-infected Simulium damnosum s.l., the main vector of human and bovine onchocerciasis in subsaharan Africa. Using homology-based generic primers in a polymerase chain reaction-based targeted differential display, the gene itself was identified and partially sequenced.

An HTLV-I carrier with Graves' disease followed by uveitis: isolation of HTLV-I from thyroid tissue.

We report a long-term (14-year) follow-up of a human T-lymphotropic virus type I (HTLV-I)-infected male who was successively afflicted with Graves' disease followed by uveitis. HTLV-I proviral DNA was detected by polymerase chain reaction in the thyroid tissue and HTLV-I was isolated from thyroid tissue by coculture with peripheral blood lymphocytes from an HTLV-I-uninfected healthy female. This case study supports a close relationship between Graves' disease and uveitis in an HTLV-I carrier.

Disseminated cat-scratch disease: detection of Rochalimaea henselae in affected tissue.

An immunocompetent 9-year-old boy with disseminated cat scratch disease involving spleen, cervical and abdominal lymph nodes, skull, and one clavicle is reported. Antibodies to Rochalimaea quintana and R. henselae were detected, at increasing, then decreasing concentration. DNA extracted from the biopsied skull lesion was amplified by polymerase chain reaction and hybridized with species-specific oligonucleotides proving the presence of R. henselae in affected tissue. Our findings suggest that R. henselae plays a pathogenic role in cat-scratch disease.