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1.
Clin Transl Allergy ; 13(11): e12313, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-38006382

RESUMEN

BACKGROUND: Hereditary angioedema (HAE) is a potentially life-threatening inherited disease that causes recurrent, serious, and debilitating episodes of swelling. While evidence has improved in adult patients, data on the epidemiology and treatment of pediatric patients with HAE remain very limited. The aim of this study was to determine the incidence and prevalence of pediatric patients with HAE aged <12 years, as well as treatment patterns, co-medication, and specialties involved. METHODS: In this retrospective study (2016-2021), the German IQVIATM pharmacy claims (LRx) database was used to analyze prescriptions of HAE-specific treatments and co-medications. RESULTS: We found an HAE prevalence in pediatric patients aged <12 years of 2.51:100,000 and a 12-month prevalence of up to 1.02:100,000 between 2016 and 2021. Most HAE treatments were prescribed by outpatient clinics and pediatricians, with an increasing proportion of icatibant as an on-demand treatment and low rates of long-term prophylaxis (LTP). The prescription rate of analgesics as the most common co-medication decreased notably after HAE diagnosis. CONCLUSION: Our findings provide insights into the epidemiology and current pediatric HAE treatment landscape in Germany. The obtained HAE prevalence in pediatric patients aged <12 years was even higher than the previously reported average of overall cohorts, whereas the LTP rate was low, which might indicate an unmet need for newer LTP treatment options in pediatric patients.

2.
Eur J Pediatr ; 182(8): 3405-3417, 2023 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-37249681

RESUMEN

Real-time MRI (rt-MRI) in children is a new imaging technique that combines the advantages of US - at frame rates of up to 50 images per second - with the quality and features of MRI. Although still subject of research, it has become a standard tool in the diagnostic portfolio of two pediatric radiology departments in Germany. Based on ultrashort acquisition times, any detrimental effects of macroscopic movements of the child and the physiological movements of the organs are negligible. Especially in pediatric brain imaging, rt-MRI has already proven its value. With suitable indications, rt-MRI can reduce anesthesia and sedation examinations in children below 6 years of age by 40% due to its very short examination time and its robustness to motion. There is a high level of acceptance among parents and referrers when diagnostic possibilities and limitations are communicated correctly. CONCLUSION: Completely new diagnostic possibilities arise in the imaging of the moving lung, the beating heart, joint movements, and speaking and swallowing, as demonstrated in this video-backed review. WHAT IS KNOWN: • MRI in moving children has been burdened with severe artifacts. • Gross motion usually has to be handled by sedation and periodic motion of the heart and lungs has to be compensated with time-consuming techniques until now. WHAT IS NEW: • Real-time MRI allows image acquisition with up to 50 frames per second similar to ultrasound frame rate. • Real-time MRI proofs to be very promising for imaging children, reducing examination time and sedation rate drastically.


Asunto(s)
Imagen por Resonancia Magnética , Radiología , Niño , Humanos , Imagen por Resonancia Magnética/métodos , Neuroimagen , Movimiento (Física) , Movimiento
3.
Pediatr Radiol ; 53(4): 640-648, 2023 04.
Artículo en Inglés | MEDLINE | ID: mdl-36372855

RESUMEN

Cystic fibrosis (CF) is one of the most common inherited and life-shortening pulmonary diseases in the Caucasian population. With the widespread introduction of newborn screening and the development of modulator therapy, tremendous advances have been made in recent years both in diagnosis and therapy. Since paediatric CF patients tend to be younger and have lower morbidity, the type of imaging modality that should be used to monitor the disease is often debated. Computed tomography (CT) is sensitive to many pulmonary pathologies, but radiation exposure limits its use, especially in children and adolescents. Conventional pulmonary magnetic resonance imaging (MRI) is a valid alternative to CT and, in most cases, provides sufficient information to guide treatment. Given the expected widespread availability of sequences with ultra-short echo times, there will be even fewer reasons to perform CT for follow-up of patients with CF. This review aims to provide an overview of the process and results of monitoring CF with MRI, particularly for centres not specialising in the disease.


Asunto(s)
Fibrosis Quística , Adolescente , Recién Nacido , Humanos , Niño , Fibrosis Quística/diagnóstico por imagen , Fibrosis Quística/patología , Pulmón/patología , Imagen por Resonancia Magnética/métodos , Tomografía Computarizada por Rayos X/métodos , Tamizaje Neonatal
4.
Pediatr Radiol ; 53(1): 12-20, 2023 01.
Artículo en Inglés | MEDLINE | ID: mdl-35836015

RESUMEN

BACKGROUND: Real-time magnetic resonance imaging (MRI) based on a fast low-angle shot technique 2.0 (FLASH 2.0) is highly effective against artifacts caused due to the bulk and pulmonary and cardiac motions of the patient. However, to date, there are no reports on the application of this innovative technique to pediatric lung MRI. OBJECTIVE: This study aimed to identify the limits of resolution and image quality of real-time lung MRI in children and to assess the types and minimal size of lesions with these new sequences. MATERIALS AND METHODS: In this retrospective study, pathological lung findings in 87 children were classified into 6 subgroups, as detected on conventional MRI: metastases and tumors, consolidation, scars, hyperinflation, interstitial pathology and bronchiectasis. Subsequently, the findings were grouped according to size (4-6 mm, 7-9 mm and ≥ 10 mm) and evaluated for visual delineation of the findings (0 = not visible, 1 = hardly visible and 2 = well visualized). RESULTS: Real-time MRI allows for diagnostic, artifact-free thorax images to be obtained, regardless of patient movements. The delineation of findings strongly correlates with the size of the pathology. Metastases, consolidation and scars were visible at 100% when larger than 9 mm. In the 7-9 mm subgroup, the visibility was 83% for metastases, 88% for consolidation and 100% for scars in T2/T1 weighting. Though often visible, smaller pathological lesions of 4-6 mm in size did not regularly meet the expected diagnostic confidence: The visibility of metastases was 18%, consolidation was 64% and scars was 71%. Diffuse interstitial lung changes and hyperinflation, known as "MR-minus pathologies," were not accessible to real-time MRI. CONCLUSION: The method provides motion robust images of the lung and thorax. However, the lower sensitivity for small lung lesions is a major limitation for routine use of this technique. Currently, the method is adequate for diagnosing inflammatory lung diseases, atelectasis, effusions and lung scarring in children with irregular breathing patterns or bulk motion on sedation-free MRI. A medium-term goal is to improve the diagnostic accuracy of small nodules and interstitial lesions.


Asunto(s)
Cicatriz , Enfermedades Pulmonares , Humanos , Niño , Estudios Retrospectivos , Cicatriz/patología , Imagen por Resonancia Magnética/métodos , Pulmón/patología , Espectroscopía de Resonancia Magnética , Artefactos
5.
J Asthma Allergy ; 15: 1217-1226, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36071746

RESUMEN

Purpose: Ailanthus altissima is one of the world's most invasive species with a globally problematic spread. Pollen is dispersed locally and partially airborne. We aimed at investigating if (i) A. altissima pollen can be detected in relevant quantity in the air and if (ii) sensitization to A. altissima can be detected in patients with seasonal exacerbation of atopic diseases. Patients and Methods: We recorded distribution of A. altissima in Leipzig, Germany. In 2019 and 2020, pollen was collected with a Hirst-type pollen trap placed on the roof of the University Hospital. Specific IgE investigations were performed in children and adults with history of atopic diseases with deterioration between May and July. We analysed specific IgE for A. altissima, Alternaria sp., birch, grasses, profilins, polcalcins and crossreacting carbohydrates. Results: We found abundant growth of A. altissima and pollen was detected from early June to mid-July with a maximum pollen concentration of 31 pollen/m3. Out of 138 patients (63 female, 69 children/adolescents), 95 (69%) had seasonal allergic rhinitis, 84 (61%) asthma, and 43 (31%) atopic dermatitis. Sensitization to A. altissima was shown in 59 (42%). There were no significant differences between age groups. In 59% of patients sensitized (35/59), there was no sensitization to possibly cross-reacting structures. Conclusion: Sensitization to A. altissima pollen could be detected in 42% of our patients with atopic diseases, suggesting allergenic potential of this neophyte. In the context of further spread with climate change, eradication strategies and population-based sensitization studies are needed.

6.
Orphanet J Rare Dis ; 17(1): 289, 2022 07 23.
Artículo en Inglés | MEDLINE | ID: mdl-35871071

RESUMEN

BACKGROUND: No results of controlled trials are available for any of the few treatments offered to children with interstitial lung diseases (chILD). We evaluated hydroxychloroquine (HCQ) in a phase 2, prospective, multicentre, 1:1-randomized, double-blind, placebo-controlled, parallel-group/crossover trial. HCQ (START arm) or placebo were given for 4 weeks. Then all subjects received HCQ for another 4 weeks. In the STOP arm subjects already taking HCQ were randomized to 12 weeks of HCQ or placebo (= withdrawal of HCQ). Then all subjects stopped treatment and were observed for another 12 weeks. RESULTS: 26 subjects were included in the START arm, 9 in the STOP arm, of these four subjects participated in both arms. The primary endpoint, presence or absence of a response to treatment, assessed as oxygenation (calculated from a change in transcutaneous O2-saturation of ≥ 5%, respiratory rate ≥ 20% or level of respiratory support), did not differ between placebo and HCQ groups. Secondary endpoints including change of O2-saturation ≥ 3%, health related quality of life, pulmonary function and 6-min-walk-test distance, were not different between groups. Finally combining all placebo and all HCQ treatment periods did not identify significant treatment effects. Overall effect sizes were small. HCQ was well tolerated, adverse events were not different between placebo and HCQ. CONCLUSIONS: Acknowledging important shortcomings of the study, including a small study population, the treatment duration, lack of outcomes like lung function testing below age of 6 years, the small effect size of HCQ treatment observed requires careful reassessments of prescriptions in everyday practice (EudraCT-Nr.: 2013-003714-40, www.clinicaltrialsregister.eu , registered 02.07.2013). Registration The study was registered on 2 July 2013 (Eudra-CT Number: 2013-003714-40), whereas the approval by BfArM was received 24.11.2014, followed by the approval by the lead EC of the University Hospital Munich on 20.01.2015. At clinicaltrials.gov the trial was additionally registered on November 8, 2015 (NCT02615938).


Asunto(s)
COVID-19 , Enfermedades Pulmonares Intersticiales , Niño , Método Doble Ciego , Humanos , Hidroxicloroquina/efectos adversos , Hidroxicloroquina/uso terapéutico , Enfermedades Pulmonares Intersticiales/tratamiento farmacológico , Estudios Prospectivos , Calidad de Vida , SARS-CoV-2 , Resultado del Tratamiento
7.
Front Endocrinol (Lausanne) ; 13: 866831, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35600592

RESUMEN

Epidermal nevus syndromes encompass a highly heterogeneous group of systemic disorders, characterized by epidermal nevi, and a spectrum of neuromuscular, ocular, and bone abnormalities. Cutaneous-skeletal hypophosphatemia syndrome (CSHS) constitutes a specific sub-entity in which elevated levels of fibroblast growth factor-23 cause hypophosphatemic rickets that are, to date, not amenable to causal therapy. Here, we report the first long-term follow-up of causal treatment with burosumab in a 3-year-old female patient with CSHS. 4 weeks after initiation of burosumab treatment, serum phosphate normalized to age-appropriate levels. Furthermore, long-term follow-up of 42 months revealed significant improvement of linear growth and gross physical functions, including respiratory insufficiency. Radiographic rickets severity as well as subjective bone pain were strongly reduced, and no side effects were observed over the course of treatment. In summary, we, here, report about a successful treatment of hypophosphatemic rickets in CSHS with burosumab over the time course of 42 months. In our patient, burosumab showed convincing efficacy and safety profile, without any loss of effect or increase of dose.


Asunto(s)
Raquitismo Hipofosfatémico Familiar , Hipofosfatemia , Raquitismo Hipofosfatémico , Anticuerpos Monoclonales Humanizados , Preescolar , Raquitismo Hipofosfatémico Familiar/complicaciones , Raquitismo Hipofosfatémico Familiar/tratamiento farmacológico , Femenino , Humanos , Hipofosfatemia/inducido químicamente , Hipofosfatemia/tratamiento farmacológico , Síndrome
8.
J Nurs Care Qual ; 37(2): 180-187, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-34320513

RESUMEN

BACKGROUND: Children suffering from bronchial diseases need assistance from nurses in the use of inhalation devices. PURPOSE: We aimed to assess nurses' skills and knowledge concerning drug administration with inhalation devices in hospitalized pediatric patients. METHODS: An expert panel defined medication errors in drug administration with inhalation devices in children. We monitored 241 inhalation procedures to investigate nurses' inhalation technique skills. Twenty-nine nurses completed a questionnaire to assess nurses' knowledge. RESULTS: Skills: In 93 of 241 (39%) inhalation procedures, the mask/mouthpiece did not fit airtight. In none of the 11 inhalations administering a glucocorticoid, the patient's mouth was thoroughly cleaned afterward. Knowledge: Ten of 29 nurses (34%) thought a distance between mask and the patient's face was acceptable. Only 16 of 29 (55%) knew that it is necessary to thoroughly clean the patient's mouth after the inhalation of budesonide. CONCLUSIONS: We found that education on inhalation procedures including practical training is required to increase patient safety.


Asunto(s)
Enfermeras Pediátricas , Enfermeras y Enfermeros , Administración por Inhalación , Niño , Competencia Clínica , Humanos , Nebulizadores y Vaporizadores
9.
Pediatr Pulmonol ; 56(12): 3899-3907, 2021 12.
Artículo en Inglés | MEDLINE | ID: mdl-34491627

RESUMEN

OBJECTIVES: Magnetic resonance imaging (MRI) of the lungs is challenging for several reasons, mainly due to the respiratory motion, low proton density, and rapid T2* decay. Recent MR sequences with ultrashort TE (UTE) coupled with respiratory compensation promise to overcome these obstacles. So far, there are very few studies on the relevance of these sequences in children. The aim of the study was to compare the diagnostic value of a respiratory-self-gated three-dimensional UTE sequence versus a conventional respiratory-triggered T2-weighted turbo spin echo (T2-TSE) sequence in a pediatric collective. STUDY DESIGN: Seventy-one patients between 0 and 18 years of age, who were scheduled for a thoracic MRI based on diverse clinical indications, were examined on a 3T MRI system. The UTE and T2-TSE sequences were evaluated by two readers regarding quality features and visualization of eight common pathology patterns. RESULTS: The image quality of both sequences was equally high, with UTE depicting pleural and central bronchi more clearly. In pathologies, UTE was superior to T2-TSE for so-called "MR-negative pathologies", significant for air trapping, and in tendency for bullae and cysts. In all remaining pathologies, T2-TSE proved to be at least equivalent to UTE. CONCLUSIONS: At present, UTE cannot serve as a universal replacement for conventional T2-TSE for all pathologies. It yields, however, a substantial benefit in the context of hyperinflation, emphysema, cysts, or pathologies of the bronchial system.


Asunto(s)
Imagenología Tridimensional , Imagen por Resonancia Magnética , Niño , Humanos , Pulmón/diagnóstico por imagen , Respiración
10.
BMC Pediatr ; 21(1): 197, 2021 04 23.
Artículo en Inglés | MEDLINE | ID: mdl-33892662

RESUMEN

BACKGROUND: Atopic diseases and behavioural difficulties in children have both been on the rise in recent decades. This study seeks to assess associations between atopic diseases and behavioural difficulties, examining the differences considering child age and how behavioural difficulties were reported (via self-report or parent-report). METHODS: Data on behavioural difficulties, assessed through the Strengths and Difficulties Questionnaire (SDQ), and on atopic diseases, assessed through the participant's medical history, were available for 2701 study participants aged 3 to 18 years. Associations between atopic diseases and behavioural difficulties were evaluated using linear regression analyses. We split the study sample into two groups. I: 3-to 10-year-olds/parent-reported SDQ (n = 1764), II: 11- to 18-year-olds/parent-reported SDQ (n = 937) and self-reported SDQ (n = 915). All analyses were adjusted for age, gender, and socioeconomic status. RESULTS: In younger children, atopic dermatitis was strongly associated with higher total difficulties scores, more emotional problems and conduct problems, and more symptoms of hyperactivity/inattention. Parents reported higher total difficulties scores, more emotional problems, and more peer-relationship problems for adolescents with bronchial asthma and other allergies, whereas the adolescents themselves reported more peer relationship problems. CONCLUSION: In younger children, atopic dermatitis is associated with internalizing and externalizing problems. In adolescents, bronchial asthma and other allergies are associated with a greater level of internalizing problems only. The findings further suggest that parents of adolescents are more likely to perceive associations between atopic diseases and behavioural difficulties than the adolescents themselves.


Asunto(s)
Trastornos Mentales , Problema de Conducta , Adolescente , Niño , Preescolar , Humanos , Trastornos Mentales/epidemiología , Trastornos Mentales/etiología , Padres , Autoinforme , Encuestas y Cuestionarios
11.
Clin Chem Lab Med ; 59(8): 1376-1383, 2021 07 27.
Artículo en Inglés | MEDLINE | ID: mdl-33826811

RESUMEN

OBJECTIVES: Sweat chloride testing (SCT) is the mainstay for the diagnosis of cystic fibrosis (CF) and biomarker in the evaluation of CFTR-modifying drugs. To be a reliable and valid tool, analytical variance (CVA) must be minimized. However, external quality assessments have revealed significant deviations in routine clinical practice. Our goal was to identify and quantify technical errors through proficiency testing and simulations. METHODS: Chloride concentrations of three blinded samples (each as triplicates) were measured in 9 CF centers using a chloridometer in a routine setting. Technical errors were simulated and quantified in a series of measurements. We compared imprecision and bias before and after a counseling session by evaluating coefficients of variation (CV), adherence to tolerance limits, and inter-rater variability coefficients. RESULTS: Pipetting errors resulting in changes in sample volume were identified as the main source of error with deviations up to 41%. After the counseling session, the overall CVA decreased from 7.6 to 5.2%, the pass rate increased from 67 to 92%, and the inter-rater variability diminished. Significant deviations continued to be observed in individual centers. CONCLUSIONS: Prevention of technical errors in SCT decreases imprecision and bias. Quality assurance programs must be established in all CF centers, including staff training, standard operating procedures, and proficiency testing.


Asunto(s)
Sudor , Cloruros , Fibrosis Quística/diagnóstico , Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Pruebas Diagnósticas de Rutina , Humanos
12.
Allergol Select ; 4: 76-85, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33134805

RESUMEN

Obesity and bronchial asthma are very common diseases in children and adolescents, associated with a considerable burden of disease, reduced quality of life and comorbidities. Obesity is a significant risk factor for bronchial asthma. On the one hand, obesity leads to changes in the mechanics and function of the lungs and chest. On the other hand, obesity-associated inflammatory processes with increased production of leptin and cytokines may trigger bronchial inflammation with the appearance of asthmatic symptoms. The diseases are also linked by genetic factors. Physical activity and weight reduction have a significant benefit. Pharmacotherapy must be based on the pattern of inflammation. This article summarizes the current state of the literature on the association of asthma and obesity and presents current and possible future treatment options.

13.
Respir Med ; 171: 106102, 2020 09.
Artículo en Inglés | MEDLINE | ID: mdl-32823240

RESUMEN

OBJECTIVE: To assess the exercise capacity, exercise habits, and lung function of preterm born children with bronchopulmonary dysplasia (BPD) compared to term born controls at school age. METHODS: Cardiopulmonary exercise test (CPET) by cycle ergometer and pulmonary function test were performed in children with BPD (n = 42) and compared with a term born control group (n = 42). Daily activity, participation in sports and respiratory symptoms were assessed by questionnaire. RESULTS: Children with BPD versus controls had significantly lower values for oxygen consumption (V̇O2 [mL/min] 1442 ± 417 vs. 1766 ± 541), minute ventilation (VE [L/min] 48 ± 14.92 vs. 60 ± 18.33), and workload (W [watt] 96.1 ± 16.7 vs. 110.6 ± 17.2) at peak exercise and a lower anaerobic threshold (VO2 AT [mL/min] 1183 ± 345 vs. 1382 ± 398). When corrected for weight, only for the workload (2.7 ± 0.5 vs. 3.1 ± 0.5, p = 0.0013) did significant differences persist. The forced expiratory volume in 1 s and forced expiratory flow between 25 and 75% of expired forced vital capacity were significantly reduced in the BPD group (p < 0.0001). Children with BPD have a higher risk of reporting difficulties in physical activity (OR 2.5) and of suffering from wheezing or shortness of breath while exercising (OR 2.5). CONCLUSION: Compared to term born controls, children with BPD at school age show airflow obstruction, a lower workload in CPET, and more respiratory symptoms related to physical activity. The comparable oxygen consumption based on weight suggests a functionally normal alveolar compartment.


Asunto(s)
Displasia Broncopulmonar/fisiopatología , Tolerancia al Ejercicio , Ejercicio Físico/fisiología , Factores de Edad , Estudios de Casos y Controles , Niño , Disnea/fisiopatología , Prueba de Esfuerzo , Femenino , Volumen Espiratorio Forzado , Humanos , Masculino , Consumo de Oxígeno , Nacimiento Prematuro , Pruebas de Función Respiratoria , Ruidos Respiratorios/fisiopatología , Instituciones Académicas , Encuestas y Cuestionarios , Capacidad Vital
14.
Handb Exp Pharmacol ; 261: 131-151, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32076895

RESUMEN

The management of atopic diseases such as severe asthma, severe atopic dermatitis, and severe food allergy in childhood is challenging. In particular, there are safety concerns regarding the use of high-dose corticosteroids. The recent development of biologicals and their approval for the treatment of children offer a new, very promising, and more personalized therapy option. Omalizumab, mepolizumab, and dupilumab are currently approved as add-on treatments of severe asthma in children and have been shown to be effective in improvement of asthma control and reduction of exacerbations. Dupilumab is the only biological approved for the treatment of atopic dermatitis in adolescents so far. It has been demonstrated to significantly improve symptoms of atopic dermatitis.However, safety data for biologicals used in atopic diseases in children and adolescents are still very limited. Biologicals are generally considered to be safe in adults. These data are often extrapolated to children. Additionally, data for long-term use are lacking. Thus, the safety profiles of those biologicals cannot yet be conclusively assessed.


Asunto(s)
Asma , Productos Biológicos , Dermatitis Atópica , Adolescente , Corticoesteroides/química , Corticoesteroides/genética , Corticoesteroides/metabolismo , Adulto , Niño , Humanos , Omalizumab/química
15.
Pediatr Pulmonol ; 55(4): 909-917, 2020 04.
Artículo en Inglés | MEDLINE | ID: mdl-32040879

RESUMEN

OBJECTIVES: Pediatric lymphocytic interstitial pneumonia (LIP) and follicular bronchiolitis (FB) are poorly characterized lymphoproliferative disorders. We present and quantify demographics, radiological and histopathologic patterns, treatments and their responses, and outcomes in non-HIV-infected children with LIP and FB. METHODS: This structured registry-based study included a retrospective chart review, blinded analysis of imaging studies and lung biopsies, genetic testing, and evaluation of treatments and outcomes. RESULTS: Of the 13 patients (eight females) studied, eight had FB, four had combined LIP/FB, and one had isolated LIP; diagnoses were highly concordant between the pathologists. Most patients became symptomatic during the first 2 years of life, with a mean lag time to diagnosis of 4 years. The most common symptoms were coughing and respiratory infections (11 out of 13 each), dyspnea (10 out of 13), and wheezing (eight out of 13). Autoantibodies were found in eight out of 13 patients. In three patients, disease-causing mutations in the COPA gene were identified. CT revealed hilar lymphadenopathy (five out of 12), ground-glass opacity (eight out of 12), consolidation (five out of 12), and cysts (four out of 13). Systemic steroids as intravenous pulses (11 out of 13) or oral intake (10 out of 13) were the main treatments and showed high response rates of 100% and 90%, respectively. Within the mean observation period of 68 months, all children had chronic courses, eight out of 13 had severe diseases, two died, and one worsened. CONCLUSIONS: Children with LIP/FB have chronic diseases that occurred in early childhood and were commonly associated with immune dysregulation as well as high morbidity and mortality. Early diagnosis and treatment may be crucial to improve the outcome.


Asunto(s)
Bronquitis/complicaciones , Enfermedades Pulmonares Intersticiales/complicaciones , Adolescente , Edad de Inicio , Biopsia , Bronquitis/diagnóstico , Bronquitis/tratamiento farmacológico , Bronquitis/patología , Niño , Preescolar , Enfermedad Crónica , Tos/etiología , Diagnóstico Diferencial , Disnea/etiología , Femenino , Pruebas Genéticas , Humanos , Lactante , Pulmón/diagnóstico por imagen , Pulmón/patología , Enfermedades Pulmonares/diagnóstico , Enfermedades Pulmonares Intersticiales/diagnóstico , Enfermedades Pulmonares Intersticiales/tratamiento farmacológico , Enfermedades Pulmonares Intersticiales/patología , Masculino , Sistema de Registros , Ruidos Respiratorios/etiología , Infecciones del Sistema Respiratorio/etiología , Estudios Retrospectivos , Tomografía Computarizada por Rayos X
16.
J Asthma Allergy ; 13: 753-756, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33408488

RESUMEN

On our pediatric intensive care unit, we successfully treated a 10-year-old boy with severe pulmonary edema due to anaphylaxis after his last injection of a 3-year course of allergen immunotherapy (AIT). In view of the severity of the adverse event, we initiated a case analysis with all involved medical professionals. The evaluation revealed delayed administration of epinephrine due to dosing uncertainty and underestimation of severity. Consequently, all involved institutions established epinephrine auto-injectors (EAIs) in their emergency equipment. We suggest providing EAIs in every practice conducting AIT, as well as in pediatric emergency rooms and ambulances. We would like to remind readers of the risk of anaphylaxis, even on the last day of AIT.

17.
Eur J Pediatr ; 177(10): 1451-1457, 2018 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-29967923

RESUMEN

Epilepsy and bronchial asthma are frequent in adolescents. Data on adolescents' experiences with their disease and on their expectations for the future, however, is scarce. Patients of a university hospital aged 12 to 17 with epilepsy or bronchial asthma were interviewed based on a questionnaire. Forty-five patients with epilepsy and 47 with bronchial asthma were interviewed. Adolescents with epilepsy felt more impaired by their disease (median 2.5; Q25/Q75 0.75/3.0; 6-level Likert scales: 0 = not at all, 5 = very strong) than those with asthma (1.0; 0/3.0; p = 0.017). Seventy-nine patients (85.9%) had never used the Internet to gain information about their disease. Adolescents with epilepsy felt more limited in their career possibilities by their disease (2.0; 0/4.0) than those with asthma (0; 0/2.0; p = 0.001) and had a higher level of concern about passing their disease on to their children (3.0; 0/4.0) than their peers with asthma (1.5; 1.5/3.0; p = 0.016). Girls with epilepsy were more anxious (4.0; 0.5/5.0) than girls with asthma (0; 0/4.0) about complications of the disease regarding pregnancy (p = 0.019). CONCLUSION: As well adolescents with epilepsy as with asthma described limitations of their daily life and concerns about the future. What is Known: • Epilepsy and bronchial asthma are frequent chronic diseases in adolescents. • Those diseases can affect psychosocial development. What is New: • Adolescents with epilepsy and bronchial asthma described a high burden of their disease, and most adolescents had not used the Internet to inform themselves on their disease. • Especially adolescents with epilepsy fear limitations in their job possibilities, inheritance of their disease and complications in their prospective pregnancy.


Asunto(s)
Asma/psicología , Actitud Frente a la Salud , Epilepsia/psicología , Conocimientos, Actitudes y Práctica en Salud , Calidad de Vida/psicología , Adolescente , Niño , Miedo , Femenino , Humanos , Masculino , Encuestas y Cuestionarios
18.
Am J Hum Genet ; 102(5): 973-984, 2018 05 03.
Artículo en Inglés | MEDLINE | ID: mdl-29727693

RESUMEN

Primary ciliary dyskinesia (PCD) is characterized by chronic airway disease, male infertility, and randomization of the left/right body axis as a result of defects of motile cilia and sperm flagella. We identified loss-of-function mutations in the open-reading frame C11orf70 in PCD individuals from five distinct families. Transmission electron microscopy analyses and high-resolution immunofluorescence microscopy demonstrate that loss-of-function mutations in C11orf70 cause immotility of respiratory cilia and sperm flagella, respectively, as a result of the loss of axonemal outer (ODAs) and inner dynein arms (IDAs), indicating that C11orf70 is involved in cytoplasmic assembly of dynein arms. Expression analyses of C11orf70 showed that C11orf70 is expressed in ciliated respiratory cells and that the expression of C11orf70 is upregulated during ciliogenesis, similar to other previously described cytoplasmic dynein-arm assembly factors. Furthermore, C11orf70 shows an interaction with cytoplasmic ODA/IDA assembly factor DNAAF2, supporting our hypothesis that C11orf70 is a preassembly factor involved in the pathogenesis of PCD. The identification of additional genetic defects that cause PCD and male infertility is of great importance for the clinic as well as for genetic counselling.


Asunto(s)
Tipificación del Cuerpo , Dineínas/genética , Síndrome de Kartagener/genética , Mutación/genética , Proteínas Nucleares/genética , Cilios/metabolismo , Cilios/ultraestructura , Dineínas/ultraestructura , Femenino , Genes Recesivos , Humanos , Mutación con Pérdida de Función/genética , Masculino , Cola del Espermatozoide/metabolismo
19.
Eur J Pediatr ; 177(4): 575-581, 2018 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-29383436

RESUMEN

Epinephrine auto-injectors are used for first aid in anaphylactic emergencies by non-healthcare professionals, e.g., (pre-)school teachers. We developed an education session for preschool teachers addressing allergies, anaphylactic emergencies, and administering auto-injectors. We assessed their attitudes and knowledge in allergies and anaphylactic emergency by a questionnaire and monitored their practical performance in administering auto-injectors before the education session, directly after, and 4-12 weeks after the session. From 75 teachers giving their consent to participate, 81% had children with allergies under their supervision and 3% had already administered medication from an available rescue kit. The knowledge of triggers of allergies increased from 9 to 55% directly and to 33% 4-12 weeks after the session (both p < 0.001, compared to baseline). Directly after the session, the number of teachers who felt well-prepared for an anaphylactic emergency rose from 11 to 88%, which decreased to 79% 4-12 weeks thereafter (each p < 0.001). The number of auto-injector administrations without any drug-related problems increased from 3 to 35% directly after the session and shrunk to 16% 4-12 weeks afterwards (both p < 0.025). CONCLUSION: A single education session substantially improved preschool teachers' attitudes and knowledge in allergies and anaphylactic emergencies. Additionally, their practical performance in auto-injector administration increased. What is Known: • Food allergies are increasing among children. • The knowledge about allergies and anaphylactic emergencies is poor. What is New: • The proportion of teachers who felt well-prepared for an anaphylactic emergency increased after a single education session. • The proportion of auto-injector administrations without any drug-related problems additionally increased due to an education session.


Asunto(s)
Anafilaxia/tratamiento farmacológico , Epinefrina/administración & dosificación , Educación en Salud/métodos , Conocimientos, Actitudes y Práctica en Salud , Maestros/estadística & datos numéricos , Adulto , Preescolar , Femenino , Humanos , Masculino , Persona de Mediana Edad , Encuestas y Cuestionarios
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