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ABSTRACT: The 15-year-old male patient presented several 2-6 mm large livid reddish-yellowish, shiny, compact papules on the head, trunk and extremities, which had developed within the last 4 months. Histology showed normal epidermis with dense dermal infiltrate of histiocytes accompanied by few eosinophils, Touton or foamy giant cells. The histiocytes were S100 positive, CD1a negative and did not contain Birbeck granules ultrastructurally. Chest X ray, EEG, skull MRI did not show pathology. Opthalmology, neurology, oto-rhino-laryngology did not reveal alterations. Based upon the clinical symptoms and the histopathology, the diagnosis of indeterminate cell histiocytosis was confirmed. Cryotherapy and cauterization did not stop the progression of the disease, however, under thalidomide treatment no new symptoms developed and the lesions healed with pigmentation.
Pathology & Oncology Research 06/2011; 18(2):535-8. · 1.37 Impact Factor
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ABSTRACT: In vivo skin analysis by Desorption Electrospray Ionization was characterized on healthy human volunteers by directing pneumatically assisted electrospray directly onto their fingertips. In order to eliminate the risk of electric shock, a high ohmic resistor was built into the system. Positive ion DESI-MS analysis yields low intensity spectra, while negative ion spectra feature a number of various biogenic carboxylic acids. Compounds of external origin and excreted molecules were found to have different analysis kinetics, with the exception of highly hydrophobic species. The difference was demonstrated in the case of nicotine and cotinine. Pharmacokinetic studies were performed using a rat animal model. The kinetics of the anesthetic ketamine was followed by DESI, and results were in agreement with off-line HPLC-MS blood analysis. Using a similar approach for N,N'-dimethylthiourea (DMTU), a novel method was developed for the real-time quantification of oxidative stress. DMTU was administered to the animals, and the ratio of the molecule and its oxidized form was monitored from the skin surface. The ratio was found to be highly sensitive to experimentally induced diabetes mellitus type I and angiotensin-induced chronic oxidative stress. It was concluded that the method has a number of potential applications in the fields of forensics, pharmacology and clinical chemistry.
The Analyst 02/2011; 136(4):835-40. · 4.23 Impact Factor
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Tamás Constantin,
Annamária Székely,
Andrea Ponyi,
Vera Gulácsy,
Csaba Ambrus,
Krisztina Kádár,
Ildikó Vastagh,
Angéla Dajnoki,
Beáta Tóth,
Gergely Bokrétás, [......],
Viktor Nagy,
Pál Magyar,
Mohamed Mahdi,
Eva Rákóczi,
Krisztina Németh,
Dániel Bereczki,
Miklós Garami,
Melinda Erdos,
László Maródi,
György Fekete
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ABSTRACT: Fabry disease is a rare, X-linked lysosomal storage disorder that leads to accumulation of globotriaosylceramide in different tissues of the body. The disease is progressive and the first symptoms usually present in childhood. Consequences of the disease are disability and premature death. The disease in females could be as severe as in males although women may be asymptomatic. The possibility of enzyme replacement therapy has made it necessary to elaborate a comprehensive guideline for the diagnosis and treatment follow-up. The guideline has been summarized by a Hungarian multi-disciplinary working group consisting of physicians who are involved in diagnosis and care of Fabry patients. Previous clinical studies, published articles, and recently established international treatment guidelines were reviewed by the group.
Orvosi Hetilap 08/2010; 151(31):1243-51.
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Tamás Constantin,
Eva Rákóczi,
Andrea Ponyi,
Csaba Ambrus,
Krisztina Kádár,
Ildikó Vastagh,
Angéla Dajnoki,
Beáta Tóth,
Gergely Bokrétás,
Veronika Müller, [......],
Sarolta Kárpáti,
Viktor Nagy,
Pál Magyar,
Mohamed Mahdi,
Krisztina Németh,
Dániel Bereczki,
Miklós Garami,
Melinda Erdos,
László Maródi,
György Fekete
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ABSTRACT: Fabry disease is a rare, X-linked lysosomal storage disorder that leads to accumulation of globotriaosylceramide in different tissues of the body. The disease is progressive, first symptoms usually present in childhood. Consequencies of the diseases are disability and premature death. The disease in females could be as severe as in males although women may also be asymptomatic. The possibility of enzyme replacement therapy has made it necessary to elaborate a comprehensive guideline for the diagnosis and treatment follow-up. The guideline was established by a Hungarian multi-disciplinary working group, consisting of physicians who are involved in health care of Fabry patients. Previous clinical studies, published materials, and recently established international treatment guidelines were reviewed by the group.
Orvosi Hetilap 02/2010; 151(7):243-9.
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Angewandte Chemie International Edition 09/2009; 48(44):8240-2. · 13.45 Impact Factor
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ABSTRACT: ATP-Binding Cassette (ABC) transporters are highly expressed in pharmacological barriers limiting the access of drugs to their targets. Since characterization of a compound as a transporter substrate or inhibitor bears significant consequences in drug development, there is a great need for reliable tools that enable the rapid analysis of the transport susceptibility of drugs. Here we describe a simple but very efficient high-performance liquid chromatography/mass spectrometry (HPLC/MS) assay for measuring the ABC transporter-dependent vesicular transport of compounds. In addition, we provide evidence that the requirement for sample preparation can be minimized using desorption electrospray ionization (DESI)-MS, paving the way for a direct, high-throughput investigation of drug-transporter interactions.
Rapid Communications in Mass Spectrometry 09/2009; 23(21):3372-6. · 2.79 Impact Factor
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ABSTRACT: A novel, solid phase extraction (SPE)-based sample preparation method was developed for desorption electrospray ionization (DESI) mass spectrometry. Conventional SPE sample preparation was followed by a custom elution procedure. The eluate was evaporated from the closing frit of the cartridge using a gas jet. Thus the analyte was concentrated on the surface of the frit, which is ideal for DESI analysis. Application of the above SPE protocol allowed the concentration of the analyte content of up to 1 L liquid sample into a 1 mm diameter circular spot. The sample preparation procedure can improve the overall sensitivity of the method by up to 6 orders of magnitude if the sample volume is sufficient. The device has been tested using aqueous solutions of Rhodamine 116; the limit of detection was comparable to the LOD of electrospray analysis. Methodology was tested for drug monitoring applications in human serum. Levels of Cyclosporine A were determined using a 0.1 mL serum sample. Dynamic range of the method exceeded 3 orders of magnitude; the detection limit was below the therapeutic serum concentration of the drug.
Analytical Chemistry 02/2009; 81(4):1669-75. · 5.86 Impact Factor
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Journal of Investigative Dermatology 09/2008; 129(1):229-31. · 6.31 Impact Factor
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ABSTRACT: Neonatal lupus erythematosus (NLE) is a disease of the first few months of infancy. It is caused by anti-SSA and anti-SSB antibodies, which are products of maternal autoimmune disorders (SLE, Sjögren, rheumatoid arthritis) and can be passively transported across the placenta. The prevalence of NLE is low. The major clinical findings are cutaneous (typical annular erythematous plaques), cardiac, hepatic and hematologic alterations. Its most severe consequence is third-degree heart block, which is irreversible, requires pacemaker-implantation and responsible for the 20-30% mortality rate. Symptoms usually resolve spontaneously at age of 6-9 months in association with disappearance of maternal antibodies from the infant's serum. In our case the typical cutaneous manifestations covered virtually the whole body, were present at birth, however, no conduction defects developed. The fact that the mother's sickness was not known at birth made it difficult to establish the diagnosis. The significant thrombocytopaenia, progressive skin-changes and the elevated liver function tests necessitated systemic steroid treatment.
Orvosi Hetilap 11/2007; 148(43):2051-5.
