scholarly journals Retrospective Analysis of the Natural History of Atopic Dermatitis Occurring in the First Year of Life in Korean Children

2012 ◽  
Vol 27 (7) ◽  
pp. 723 ◽  
Author(s):  
Younghee Chung ◽  
Jung Hyun Kwon ◽  
Jihyun Kim ◽  
Youngshin Han ◽  
Sang-Il Lee ◽  
...  
Author(s):  
Н.В. Зильберберг ◽  
М.М. Кохан ◽  
Ю.В. Кениксфест

Атопический дерматит – широко распространенный хронический дерматоз мультифакториальной природы с превалирующей долей генетического компонента и сложным патогенезом. В патогенезе атопического дерматита важную роль играет наследственная детерминированность, приводящая к нарушению состояния кожного барьера, дефектам иммунной системы (стимуляция Th2-клеток с последующей гиперпродукцией IgE); гиперчувствительность к аллергенам и неспецифическим раздражителям, колонизации кожи и слизистых патогенными микроорганизмами, а также дисбаланс вегетативной нервной системы с повышением продукции медиаторов воспаления. К генетическим факторам развития атопического дерматита относят наличие мутации гена филаггрина, приводящей к нарушению функции эпидермального барьера при атопическом дерматите, а также семейный анамнез атопического дерматита и других атопических заболеваний. С дефектами иммунной системы связано развитие воспалительной реакции в коже с участием Т-лимфоцитов. В острую фазу заболевания преобладает Th2-ответ, когда происходит стимуляция Th2-клеток с последующей гиперпродукцией специфических IgE; в хроническую – происходит переключение с Th2- на Th1-иммунный ответ. В патофизиологические механизмы атопического дерматита вовлечены ряд интерлейкинов и ИФН-γ, которым для передачи сигнала требуется участие внутриклеточной сигнальной системы JAK/STAT, в том числе Янус-киназы 1-го типа. Заболевание развивается обычно в первые 2 года жизни и в 2/3 случаев сохраняется во взрослом возрасте, при этом 45% всех случаев начала заболевания приходится на первые 6 месяцев жизни: в 60% случаев заболевание развивается в течение первого года жизни и в 85% случаев в возрасте до 5 лет. В зрелом возрасте кожный процесс сохраняется у 38-42% больных. С течением времени подходы к терапии дерматоза претерпевали значительные изменения. В настоящей статье приведен актуальный обзор результатов клинических исследований препарата упадацитиниб в лечении больных атопическим дерматитом взрослых и подростков. Atopic dermatitis is a common chronic dermatosis of multifactorial nature with prevalence of genetic component and complex pathogenesis. In the pathogenesis of atopic dermatitis, an important role is played by hereditary determinism, leading to a violation of the state of the skin barrier, defects of the immune system (stimulation of Th2 cells with subsequent overproduction of IgE); hypersensitivity to allergens and nonspecific irritants, colonization of the skin and mucous membranes by pathogenic microorganisms, as well as an imbalance of the autonomic nervous system with an increase in the production of inflammatory mediators. The genetic factors for the development of atopic dermatitis include the presence of a mutation in the filaggrin gene, leading to dysfunction of the epidermal barrier in atopic dermatitis, as well as a family history of atopic dermatitis and other atopic diseases. The development of an inflammatory reaction in the skin with the participation of T-lymphocytes is associated with defects in the immune system. In the acute phase of the disease, the Th2 response predominates, when Th2 cells are stimulated with subsequent overproduction of specific IgE; in chronic – there is a switch from Th2- to Th1-immune response. A number of interleukins and IFN-γ, which require the participation of the JAK/STAT signaling system, including Janus kinase, are involved in the pathophysiological mechanisms of atopic dermatitis. The disease usually develops in the first 2 years of life, and in 2/3 of cases persists into adulthood, while 45% of all cases of onset of the disease occur in the first 6 months of life: in 60% of cases, the disease develops during the first year of life and in 85% cases under the age of 5 years. In adulthood, the skin process persists in 38-42% of patients. Over time, approaches to the treatment of thedermatosis have undergone significant changes. This article provides an up-to-date review of the results of clinical trials of the drug upadacitinib in the treatment of atopic dermatitis.


2019 ◽  
Vol 45 (1) ◽  
Author(s):  
Mirna Brito Peçanha ◽  
Rodrigo de Barros Freitas ◽  
Tiago Ricardo Moreira ◽  
Luiz Sérgio Silva ◽  
Leandro Licursi de Oliveira ◽  
...  

ABSTRACT Objective: To determine the prevalence of vitamin D deficiency/insufficiency in children 0-18 years of age with recurrent wheezing and/or asthma residing in the microregion of Viçosa, Minas Gerais, Brazil, and treated at a referral center, and to determine its association with major risk factors for wheezing. Methods: A cross-sectional study was performed using a semi-structured questionnaire, which was administered by trained interviewers to the legal guardians of the study participants. Data were obtained regarding general characteristics of recurrent wheezing; general sociodemographic, environmental, and biologic factors; and atopy-related factors. The magnitude of the statistical association was assessed by calculating ORs and their corresponding 95% CIs by using multiple logistic regression. Results: We included 124 children in the study. The prevalence of vitamin D deficiency/insufficiency in the sample was 57.3%. Vitamin D deficiency/insufficiency was found to be associated with wheezing in the first year of life, personal history of atopic dermatitis, environmental pollution, and vitamin D supplementation until 2 years of age. Conclusions: The prevalence of vitamin D deficiency/insufficiency was high in our sample. Vitamin D concentrations were directly associated with vitamin D supplementation until 2 years of age and were inversely associated with wheezing events in the first year of life, personal history of atopic dermatitis, and environmental pollution.


2014 ◽  
Vol 168 (7) ◽  
pp. 681 ◽  
Author(s):  
William E. Bennett ◽  
Kristin S. Hendrix ◽  
Rachel T. Thompson ◽  
Aaron E. Carroll ◽  
Stephen M. Downs

Blood ◽  
2000 ◽  
Vol 95 (2) ◽  
pp. 393-397 ◽  
Author(s):  
F. Delhommeau ◽  
T. Cynober ◽  
P. O. Schischmanoff ◽  
P. Rohrlich ◽  
J. Delaunay ◽  
...  

Although hereditary spherocytosis (HS) is a common disorder of the red cell membrane, its clinical and biologic expression at birth and in early infancy has received little attention. In order to obtain insights into the natural history of HS during infancy, we studied 46 neonates, 39 from families in which 1 of the parents had previously been given a diagnosis of HS and 7 presenting with nonimmune hemolytic anemia and no family history of HS. Of these 46 neonates, 23 were subsequently confirmed to have HS and 23 were found to be healthy. The hematologic and biologic analyses carried out in this cohort of 46 newborns enabled us to develop guidelines for early diagnosis of HS. A careful clinical follow-up of 34 HS patients during the first year of life allowed us to define several important clinical features of HS during this period. Hemoglobin values are usually normal at birth but decrease sharply during the subsequent 20 days, which leads, in many cases, to a transient and severe anemia. The anemia is severe enough to warrant blood transfusions in a large number of infants with HS (26 of 34 in our series). The aggravation of anemia appears to be related to the inability of these infants to mount an appropriate erythropoietic response to anemia and to the development of splenic filtering function. These findings indicate that careful monitoring of infants with HS during the first 6 months of life is important for appropriate clinical management.


2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Sarah Isabel Krieg ◽  
Ingeborg Krägeloh-Mann ◽  
Samuel Groeschel ◽  
Stefanie Beck-Wödl ◽  
Ralf A. Husain ◽  
...  

Abstract Background Krabbe disease or globoid cell leukodystrophy is a severe neurodegenerative disorder caused by a defect in the GALC gene leading to a deficiency of the enzyme ß-galactocerebrosidase. The aim of this work was to describe the natural disease course covering the whole spectrum of the disease. Methods Natural history data were collected with a standardized questionnaire, supplemented by medical record data. We defined different forms of the disease according to Abdelhalim et al. (2014). Developmental and disease trajectories were described based on the acquisition and loss of milestones as well as the time of first clearly identifiable symptoms and needs such as spasticity, seizures and tube feeding. MRI was assessed using the scoring system by Loes et al. (1999) and in addition a pattern recognition approach, based on Abdelhalim et al. (2014). Results Thirty-eight patients were identified, from 27 of these patients 40 MRIs were available; 30 (79%) had an infantile onset, showing first symptoms in their first year of life, almost all (27 out of 30) starting in the first six months. A later onset after the first year of life was observed in 8 patients (21%, range 18 months to 60 years). Irritability, abnormalities in movement pattern as well as general developmental regression were the first symptoms in the infantile group; disease course was severe with rapid progression, e.g. loss of visual fixation, need for tube feeding and then an early death. Gait disorders were the first symptoms in all patients of the later onset groups; progression was variable. The different forms of the disease were characterized by different MRI patterns (infantile: diffuse white matter involvement and cerebellar structures specifically affected, later onset: parieto-occipital white matter and splenium affected, adult: motor tracts specifically affected). Conclusion This is the first description of the natural history of Krabbe disease in a larger European cohort using developmental, clinical and MRI data. We would like to highlight the very different clinical and MRI characteristics of the later onset forms. These data are important for counselling affected patients and families and may serve as a basis for future treatment trials.


2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Annette Bley ◽  
Jonas Denecke ◽  
Alfried Kohlschütter ◽  
Gerhard Schön ◽  
Sandra Hischke ◽  
...  

Abstract Background Canavan disease (CD, MIM # 271900) is a rare and devastating leukodystrophy of early childhood. To identify clinical features that could serve as endpoints for treatment trials, the clinical course of CD was studied retrospectively and prospectively in 23 CD patients. Results were compared with data of CD patients reported in three prior large series. Kaplan Meier survival analysis including log rank test was performed for pooled data of 82 CD patients (study cohort and literature patients). Results Onset of symptoms was between 0 and 6 months. Psychomotor development of patients was limited to abilities that are usually gained within the first year of life. Macrocephaly became apparent between 4 and 18 months of age. Seizure frequency was highest towards the end of the first decade. Ethnic background was more diverse than in studies previously reported. A CD severity score with assessment of 11 symptoms and abilities was developed. Conclusions Early hallmarks of CD are severe psychomotor disability and macrocephaly that develop within the first 18 months of life. While rare in the first year of life, seizures increase in frequency over time in most patients. CD occurs more frequently outside Ashkenazi Jewish communities than previously reported. Concordance of phenotypes between siblings but not patients with identical ASPA mutations suggest the influence of yet unknown modifiers. A CD severity score may allow for assessment of CD disease severity both retrospectively and prospectively.


2015 ◽  
Vol 26 (4) ◽  
pp. 359-366 ◽  
Author(s):  
Eelco Draaisma ◽  
Luis Garcia-Marcos ◽  
Javier Mallol ◽  
Dirceu Solé ◽  
Virginia Pérez-Fernández ◽  
...  

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