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1.
BMJ Open ; 12(9): e059256, 2022 09 08.
Artigo em Inglês | MEDLINE | ID: mdl-36691202

RESUMO

INTRODUCTION: The pathogenesis of atopic diseases is highly complex, and the exact mechanisms leading to atopic dermatitis (AD) onset in infants remain mostly enigmatic. In addition to an interdependent network of components of skin development in young age and skin barrier dysfunction underlying AD development that is only partially understood, a complex interplay between environmental factors and lifestyle habits with skin barrier and immune dysregulation is suspected to contribute to AD onset. This study aims to comprehensively evaluate individual microbiome and immune responses in the context of environmental determinants related the risk of developing AD in the first 4 years of a child's life. METHODS AND ANALYSES: The 'Munich Atopic Prediction Study' is a comprehensive clinical and biological investigation of a prospective birth cohort from Munich, Germany. Information on pregnancy, child development, environmental factors, parental exposures to potential allergens and acute or chronic diseases of children and parents are collected by questionnaires together with a meticulous clinical examination by trained dermatologists focusing on allergies, skin health, and in particular signs of AD at 2 months after birth and then every 6 months. In addition, skin barrier functions are assessed through cutometry, corneometry and transepidermal water loss at every visit. These measurements are completed with allergy diagnostics and extensive microbiome analyses from stool and skin swabs as well as transcriptome analyses using skin microbiopsies.The aim is to assess the relevance of different known and yet unknown risk factors of AD onset and exacerbations in infants and to identify possible accessible and robust biomarkers. ETHICS AND DISSEMINATION: The study is approved by the Ethical Committee of the Medical Faculty of the Technical University of Munich (reference 334/16S). All relevant study results will be presented at national and international conferences and in peer-reviewed journals.


Assuntos
Dermatite Atópica , Hipersensibilidade , Lactente , Criança , Feminino , Gravidez , Humanos , Pré-Escolar , Dermatite Atópica/etiologia , Estudos Prospectivos , Coorte de Nascimento , Fatores de Risco , Hipersensibilidade/complicações
2.
Onkologie ; 33(12): 692-4, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-21124040

RESUMO

BACKGROUND: Due to rising cure rates in cancer, the question of preserving fertility in young female patients becomes more important. Especially in lymphomas, incidence and long-time survival have increased. Hematologists and gynecologists have to treat more and more female patients who wish to become pregnant despite their disease and/or after finishing treatment. CASE REPORT: We report on a 28-year-old patient with highly malignant non-Hodgkin's lymphoma (peripheral T cell lymphoma, Ann Arbor stage IV) and main manifestation at the gastric antrum, with a distinct wish for becoming pregnant. Chemotherapy was strongly recommended to her, but she refused. After she had conceived, the disease recurred, followed by stillbirth in week 19 of gestation and death due to gastric perforation and septic shock. CONCLUSIONS: Facing the risk of sterility after chemotherapy should not induce patients to refuse chemotherapy and risk their lives. Treatment of young female cancer patients should therefore always include a thorough discussion about other ways of preserving fertility for the time after treatment. Such strategies exist, although their success is still limited and not every patient is eligible for them.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/toxicidade , Infertilidade Feminina/induzido quimicamente , Linfoma de Células T Periférico/tratamento farmacológico , Linfoma de Células T Periférico/cirurgia , Complicações Neoplásicas na Gravidez/tratamento farmacológico , Complicações Neoplásicas na Gravidez/cirurgia , Natimorto , Neoplasias Gástricas/tratamento farmacológico , Neoplasias Gástricas/cirurgia , Recusa do Paciente ao Tratamento , Adulto , Protocolos de Quimioterapia Combinada Antineoplásica/administração & dosagem , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Quimioterapia Adjuvante/efeitos adversos , Ciclofosfamida/administração & dosagem , Ciclofosfamida/toxicidade , Doxorrubicina/administração & dosagem , Doxorrubicina/toxicidade , Evolução Fatal , Feminino , Gastrectomia , Humanos , Infertilidade Feminina/prevenção & controle , Linfoma de Células T Periférico/patologia , Recidiva Local de Neoplasia/patologia , Estadiamento de Neoplasias , Prednisona/administração & dosagem , Prednisona/toxicidade , Gravidez , Complicações Neoplásicas na Gravidez/patologia , Segundo Trimestre da Gravidez , Antro Pilórico/patologia , Ruptura Espontânea , Choque Séptico/patologia , Neoplasias Gástricas/patologia , Ruptura Gástrica/parasitologia , Vincristina/administração & dosagem , Vincristina/toxicidade
3.
J Perinat Med ; 38(1): 55-62, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-19678743

RESUMO

Takayasu's arteritis (TA) is a rare inflammatory disease of the arteries that affects women of childbearing age. The optimal management for pregnant patients with this disease has not yet been defined. The course of disease seems to be neither affected nor worsened by pregnancy. We could not find reported maternal deaths directly related to pregnancy. However, many authors report maternal as well as fetal unfavorable events in the course of pregnancy. We describe a 25-year-old primigravida of Turkish-Greek origin who presented at 30 weeks of pregnancy with active TA. In the 37(th) week, intrauterine fetal death occurred. Our patient did not show high blood pressure or aortic inflammation. The course of her disease was stable. Whether a newly diagnosed TA during pregnancy should be regarded as an indication for premature delivery is discussed. An interdisciplinary collaboration of rheumatologists, nephrologists and obstetricians is necessary to improve maternal and fetal prognosis.


Assuntos
Morte Fetal/etiologia , Complicações Cardiovasculares na Gravidez , Arterite de Takayasu/complicações , Adulto , Feminino , Humanos , Gravidez
4.
Hum Mutat ; 28(3): 303-11, 2007 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-17109391

RESUMO

Analysis of allelic imbalance is of great importance for understanding tumorigenesis and the clinical management of malignant disease. Fluorescent-based capillary electrophoresis (CE) of highly polymorphic short tandem repeats (STRs) has become the main method used to detect the loss/gain of alleles. However, there is continued interest in the development of techniques that require no fluorescence and allow the rapid analysis of individual samples. One promising alternative is ion-pair reversed-phase high-performance liquid chromatography (IP-RP-HPLC), which is widely available because of its use in denaturing HPLC. Its applicability in combination with ultraviolet (UV) absorbance detection to the efficient separation of di- and tetranucleotide repeats on the short arm of chromosome 11 was tested using 25 matched pairs of normal and ovarian cancer tissues. Loss of heterozygosity (LOH) could be readily identified for all 13 loci tested, based on changes in the ratios between either the alleles or homo- and heteroduplex signals. However, discrimination between noninformative homo- or hemizygous and heterozygous samples was difficult or impossible when HPLC failed to resolve the alleles. Hyphenation of HPLC with electrospray ionization (ESI) quadrupole ion trap (IT) mass spectrometry (MS) not only allowed the identification of coeluting alleles, but also the reliable detection of a 40% reduction of one allele. The size range of DNA fragments amenable to mass spectrometric analysis was effectively tripled to >300 bp by the use of a linear IT and a Taq DNA polymerase cocktail lacking detergents that otherwise adversely affect ESI.


Assuntos
Cromatografia Líquida de Alta Pressão/métodos , Testes Genéticos/métodos , Perda de Heterozigosidade , Espectrometria de Massas por Ionização por Electrospray/métodos , Carcinoma/genética , Feminino , Humanos , Repetições de Microssatélites , Neoplasias Ovarianas/genética , Reação em Cadeia da Polimerase , Sensibilidade e Especificidade , Taq Polimerase/análise
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