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  • 1
    Language: English
    In: Pediatric Rheumatology, 9/2014, Vol.12(S1)
    Keywords: Medicine;
    ISSN: Pediatric Rheumatology
    E-ISSN: 1546-0096
    Source: CrossRef
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  • 2
    In: Acta Pædiatrica, November 2006, Vol.95(11), pp.1505-1507
    Keywords: Abnormalities, Multiple–Etiology ; Cell Cycle Proteins–Genetics ; Child–Etiology ; Facies–Etiology ; Failure to Thrive–Diagnosis ; Female–Genetics ; Humans–Etiology ; Microcephaly–Etiology ; Nijmegen Breakage Syndrome–Etiology ; Nuclear Proteins–Etiology ; Psychomotor Disorders–Etiology ; Cell Cycle Proteins ; Nbn Protein, Human ; Nuclear Proteins;
    ISSN: 0803-5253
    E-ISSN: 1651-2227
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  • 3
    Language: English
    In: Reumatologia Clinica
    Description: Primary Raynaud's phenomenon (PRP) manifests as episodes of transient spasms of peripheral blood vessels. To elucidate the clinical clues and laboratory characteristics will facilitate the identification of PRP. A retrospective data collection of clinical and laboratory characteristics of 58 children with PRP was performed between January 2007 and December 2016. A positive ANA test at lower titers 〈1:100 was detected in 24.1% of the patients. There was a significant relationship between presence of ANA positivity and migraine in female patients with PRP ( = 0.01; = 0.020 respectively). The most common accompanying disorder was migraine which was detected in 37.9% of all patients with PRP. Hemoglobin and serum ferritin levels were significantly lower in PRP patients with migraine ( = 0.045; 〈 0.05, respectively). Additionally, the mean platelet volume (MPV) measurements were significantly higher in patients with migraine compared to those without migraine ( = 0.045; 〈 0.05 respectively). There is limited data concerning childhood PRP. For the first time we showed a high frequency of migraine in childhood PRP. Anemia and high MPV could be the underlying triggering factors of these two episodic diseases. El fenómeno de Raynaud primario (PRP, por sus siglas en inglés) se manifiesta como episodios de vasoespasmos transitorios de vasos sanguíneos periféricos. Elucidar las características clínicas y de laboratorio facilitará la identificación del PRP, así como las enfermedades acompañantes. Se realizó una un estudio retrospectivo de datos clínicos, de laboratorio y de tratamiento en 58 niños con PRP entre enero de 2007 y diciembre de 2016. Se detectó una prueba de ANA positiva en títulos inferiores (〈 1:100) en el 24,1% de nuestros pacientes. Se encontró correlación estadística entre la positividad de anticuerpos antinucleares y la presencia de migraña en las mujeres con PRP (p = 0,01; p = 0,020, respectivamente, prueba exacta de Fisher, prueba de corrección de continuidad de Yates). El trastorno más común fue la presencia de migraña en el 37,9% (n = 22) asociado con PRP. Los niveles de hemoglobina fueron significativamente más bajos asociados con un bajo nivel de ferritina sérica en los casos de PRP con migraña (p = 0,045; p 〈 0,05). Además, las mediciones del volumen plaquetario medio (VPM) fueron significativamente mayores en los casos con migraña en comparación con aquellos sin migraña (p = 0,045; p 〈 0,05). Existen datos muy limitados sobre el PRP infantil. Hemos presentado por primera vez la asociación de PRP infantil y migraña en un estudio retrospectivo. La anemia y el VPM alto podrían formar parte de los factores predisponentes de ambas enfermedades episódicas.
    Keywords: Raynaud'S Phenomenon ; Migraine ; Anemia ; Fenómeno de Raynaud ; Migraña ; Anemia ; Medicine
    ISSN: 1699-258X
    E-ISSN: 18851398
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  • 4
    Language: English
    In: Journal of Clinical Immunology, 2015, Vol.35(1), pp.80-83
    Description: Byline: Sara Sebnem Kilic (1), Anne Puel (2), Jean-Laurent Casanova (2,3,4) Keywords: Chronic mucocutaneous candidiasis; orf infection; STAT1 gain-of-function; primary immunodeficiency Abstract: Purpose Chronic Mucocutaneous Candidiasis (CMC) refers to a group of immunodeficiencies, characterized by persistent or recurrent infections of the skin, nails, and mucosae caused by Candida. It is typically caused by inborn errors of IL-17 immunity. Orf, also known as contagious ecthyma, is a zoonotic infection caused by a dermatotropic parapoxvirus that commonly infects sheep and goats it is transmitted to humans through contact with an infected animal or fomites. While orf is usually a benign self-limiting illness, it can be progressive and even life-threatening in immune-compromised hosts. Methods and Results A 34-year-old man with autosomal dominant CMC due to a heterozygous STAT1 gain-of-function (GOF) mutation cut his hand with a knife during slaughter. Giant orf infection developed in 2 weeks. He was successfully treated by cidofovir injections every other week for 4 months. Conclusions This is the first patient with severe orf in the context of a well-defined genetically identified PID: CMC and inborn error of IL-17 immunity due to a GOF STAT1 mutation. Author Affiliation: (1) Department of Pediatrics, Uludag University School of Medicine, Gorukle, Bursa, 16059, Turkey (2) Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris Descartes University, Imagine Institute, Paris, EU, France (3) St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, 10065, NY, USA (4) Howard Hughes Medical Institute, New York, NY, USA Article History: Registration Date: 22/10/2014 Received Date: 27/06/2014 Accepted Date: 22/10/2014 Online Date: 04/11/2014
    Keywords: Chronic mucocutaneous candidiasis ; orf infection ; STAT1 gain-of-function ; primary immunodeficiency
    ISSN: 0271-9142
    E-ISSN: 1573-2592
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  • 5
    Language: English
    In: The Journal of Allergy and Clinical Immunology, January 2014, Vol.133(1), pp.172-180.e10
    Description: Primary antibody deficiencies represent the most prevalent, although very heterogeneous, group of inborn immunodeficiencies, with a puzzling complexity of cellular and molecular processes involved in disease pathogenesis. We aimed to study in detail the kinetics of CD40 ligand/IL-21–induced B-cell differentiation to define new biomarker sets for further research into primary antibody deficiencies. We applied high-content screening methods to monitor B-cell activation on the cellular (chip cytometry) and transcriptomic (RNA microarray) levels. The complete activation process, including stepwise changes in protein and RNA expression patterns, entry into the cell cycle, proliferation and expression of activation-induced cytidine deaminase (AID), DNA repair enzymes, and post–class-switch expression of IgA and IgG, was successfully monitored during differentiation. We identified a number of unknown pathways engaged during B-cell activation, such as CXCL9/CXCL10 secretion by B cells. Finally, we evaluated a deduced set of biomarkers on a group of 18 patients with putative or proved intrinsic B-cell defects recruited from the European Society for Immunodeficiencies database and successfully predicted 2 AID defects and 1 DNA repair defect. Complete absence of class-switched B cells was a sensitive predictor of AID deficiency and should be further evaluated as a diagnostic biomarker. The biomarkers found in this study could be used to further study the complex process of B-cell activation and to understand conditions that lead to the development of primary antibody deficiencies.
    Keywords: Primary Immunodeficiency ; Primary Antibody Deficiency ; B-Cell Immunology ; Chip Cytometry ; Medicine
    ISSN: 0091-6749
    E-ISSN: 1097-6825
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  • 6
    Language: English
    In: The Journal of Allergy and Clinical Immunology, November 2013, Vol.132(5), pp.1156-1163.e5
    Description: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder of phagocytes resulting in impaired killing of bacteria and fungi. A mutation in one of the 4 genes encoding the components p22 , p47 , p67 , and p40 of the leukocyte nicotinamide dinucleotide phosphate reduced (NADPH) oxidase leads to autosomal recessive (AR) CGD. A mutation in the gene encoding gp91 leads to X-linked recessive CGD. The aim of this study is to show the correlation between clinical, functional, and genetic data of patients with CGD from Turkey. We report here the results of 89 patients with CGD from 73 Turkish families in a multicenter study. Most of the families (55%) have an AR genotype, and 38% have an X-linked genotype; patients from 5 families with a suspected AR genotype (7%) were not fully characterized. We compared patients with CGD according to the severity of NADPH oxidase deficiency of neutrophils. Patients with A22 , A67 or X91 phenotypes with a stimulation index of 1.5 or less have early clinical presentation and younger age at diagnosis (mean, 3.2 years). However, in p47 -deficient cases and in 5 other AR cases with high residual oxidase activity (stimulation index ≥ 3), later and less severe clinical presentation and older age at diagnosis (mean, 7.1 years) were found. Pulmonary involvement was the most common clinical feature, followed by lymphadenitis and abscesses. Later and less severe clinical presentation and older age at diagnosis are related to the residual NADPH oxidase activity of neutrophils and not to the mode of inheritance. CGD caused by A22 and A67 subtypes manifests as severe as the X91 subtype.
    Keywords: Chronic Granulomatous Disease ; Dihydrorhodamine-1,2,3 Assay ; Cybb ; Cyba ; Ncf1 ; Ncf2 ; Nicotinamide Dinucleotide Phosphate Reduced Oxidase ; Mean Fluorescence Intensity ; Stimulation Index ; Medicine
    ISSN: 0091-6749
    E-ISSN: 1097-6825
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  • 7
    Language: English
    In: Pediatrics international : official journal of the Japan Pediatric Society, June 2017, Vol.59(6), pp.655-660
    Description: Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome is the most frequent repetitive fever syndrome in childhood. It is characterized by fever episodes lasting for approximately 3-6 days, once every 3-8 weeks. Clinical and laboratory data for PFAPA syndrome patients between January 2010 and December 2014 followed up at a tertiary pediatric care hospital were reviewed. Four hundred children (256 male, 144 female; mean age at diagnosis, 4.2 ± 2.2 years), were enrolled in the study. During the episodes, mean leukocyte number was high (12 725/mm ) with predominant neutrophils. The mean number of monocytes was 1256/mm , and 90.2% had monocytosis. Serum amyloid A and C-reactive protein were high in 84.6% and in 77.8% of the patients, respectively. Mediterranean fever (MEFV) gene heterozygous mutation was identified in 57 of the 231 patients (24.7%) in whom genetic analysis had been performed. The most frequent mutation was heterozygous M694V (10%, n = 23). Extension of between-episode interval following prophylaxis was noted in 85% of those on regular colchicine treatment (n = 303). In the colchicine group, between-episode interval was prolonged from 18.8 ± 7.9 days (before colchicine treatment) to 49.5 ± 17.6 days on prophylactic colchicine therapy; also, prophylactic treatment was more effective in reducing episode frequency in patients with MEFV gene variant (n = 54, 96%) than in those without (n = 122, 80%; P = 0.003). This study has involved the largest number of PFAPA syndrome patients in the literature. It is particularly important to assess and to demonstrate the high rate of response to colchicine prophylaxis in PFAPA syndrome patients, especially those with MEFV variant. On blood screening, neutrophilia associated with monocytosis and low procalcitonin could contribute to diagnosis.
    Keywords: Mefv ; Pfapa Syndrome ; Child ; Colchicine ; Periodic Fever ; Colchicine -- Therapeutic Use ; Familial Mediterranean Fever -- Drug Therapy ; Fever -- Prevention & Control ; Lymphadenitis -- Prevention & Control ; Pharyngitis -- Prevention & Control ; Stomatitis, Aphthous -- Prevention & Control ; Tubulin Modulators -- Therapeutic Use
    ISSN: 13288067
    E-ISSN: 1442-200X
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  • 8
    Language: English
    In: Ocular immunology and inflammation, 17 December 2018, pp.1-9
    Description: To present the ocular findings of the members of a family that has the diagnosis of Muckle Wells syndrome, a form of cryopyrin associated periodic syndrome (CAPS). Nine patients with MWS were included in this study. Each study participant underwent a systemic evaluation, comprehensive ophthalmic examination, and auxillary testings. In this study, conjunctivitis was the most prominent ocular finding. Other relatively common ocular findings included band keratopathy, clinical signs of past uveitis, and corneal topography abnormalities. Nystagmus, corneal leukoma, and optic nerve pallor with epiretinal membrane were also detected. Rare ocular manifestations were posterior stromal corneal opacification with edema, anterior iris snychecia, and mild cataract. MWS is a rare systemic autoinflammatory disorder that presents with a variety of ocular findings. Exacerbation of systemic and ocular findings with cold is a hallmark of the disease.
    Keywords: Autoinflammation ; Muckle Wells Syndrome ; Conjunctivitis ; Cryoprin ; Uveitis
    ISSN: 09273948
    E-ISSN: 1744-5078
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  • 9
    Language: English
    In: Pediatrics, June 2006, Vol.117(6), pp.e1253-1255
    Description: We report widely disseminated molluscum contagiosum that occurred in a 9-year-old boy secondary to hyperimmunoglobulin E syndrome, a primary immunodeficiency disorder. Cutaneous examination revealed numerous, widespread, skin-colored to translucent, firm, umbilicated papules of varying sizes. They were distributed throughout the perineal and gluteal areas and bilaterally over his lower limbs. A biopsy specimen from his skin lesion demonstrated lobulated epidermal growth that consisted of keratinocytes with large intracytoplasmic eosinophilic inclusion bodies and a central crater. These findings were consistent with the diagnosis of molluscum contagiosum. Many treatments for his skin lesions were ineffective, including physical destruction or manual extrusion of the lesions; cryotherapy; curettage; and topical therapies with phenol, trichloroacetic acid, and imiquimod. The patient was treated successfully with subcutaneous interferon-alpha for 6 months without any adverse effect.
    Keywords: Antiviral Agents -- Therapeutic Use ; Interferon-Alpha -- Therapeutic Use ; Job Syndrome -- Complications ; Molluscum Contagiosum -- Drug Therapy
    ISSN: 00314005
    E-ISSN: 1098-4275
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  • 10
    Language: English
    In: Rheumatology International, 2016, Vol.36(7), pp.1011-1013
    Description: To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1007/s00296-016-3456-9 Byline: Sahin Erdol (1), Sukru Cekic (2), Suar CakA[+ or -] KA[+ or -]lA[+ or -]c (3), Halil Saglam (1), Sara Sebnem KA[+ or -]lA[+ or -]c (2) Author Affiliation: (1) Division of Metabolism, Department of Pediatrics, Uludag University Faculty of Medicine, 16059, Gorukle, Bursa, Turkey (2) Division of Immunology, Department of Pediatrics, Uludag University Faculty of Medicine, Bursa, Turkey (3) Division of Hematology, Department of Pediatrics, Medical Park Hospital, Istanbul, Turkey Article History: Registration Date: 26/02/2016 Received Date: 06/12/2015 Accepted Date: 25/02/2016 Online Date: 10/03/2016
    Keywords: Bone Marrow Transplantation ; College Faculty;
    ISSN: 0172-8172
    E-ISSN: 1437-160X
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