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1.
Rev Sci Instrum ; 93(11): 114501, 2022 Nov 01.
Article in English | MEDLINE | ID: mdl-36461544

ABSTRACT

A torsional thrust balance has been designed and validated by Surrey Space Centre and Added Value Solutions UK Ltd. in collaboration with the UK Space Agency. The thrust stand has been tested with two electric propulsion (EP) systems operating with xenon: the Halo thruster and the XJET thruster. The first consists of a low-power (<1 kW) Hall effect-based thruster, whose thrust level is between 3 and 20 mN, depending on the power of the system. The second is an electron cyclotron resonance thruster whose operative point is in the 0.3-1.5 mN thrust range. The thruster is mounted on a titanium rotating beam, whose movement is measured by an optical fiber displacement sensor. The thrusters' direct current electrical connections are routed through room temperature liquid metal pots and microwave power is transmitted via a wireless transfer system, minimizing friction effects. To reduce thermal issues during long thruster operations, the torsional thrust balance is designed with a water-cooling hub around the flex pivot. Noise from the laboratory environment is lessened by using four vibration-dampening spring systems as thrust balance feet. The tests on the two EP systems have shown accurate and repeatable results, demonstrating that the balance can be used to characterize different EP systems in the µN-mN thrust range.

2.
J Cyst Fibros ; 18(2): 299-303, 2019 03.
Article in English | MEDLINE | ID: mdl-30268370

ABSTRACT

OBJECTIVES: The Cystic Fibrosis (CF) International Mental Health Guidelines Committee published consensus statements for screening and treating depression and anxiety in individuals with CF and their caregivers. This work aimed to evaluate the dissemination and implementation of the guidelines in Europe two years following their publication. METHODS: A 28-item survey was developed by the multidisciplinary ECFS Mental Health Working Group and emailed to approximately 300 CF centres across Europe. The survey evaluated (a) who should be responsible for mental health (MH) care, (b) the current awareness and agreement of the guidelines, (c) the provision of recommended MH screening and follow-up care, and (d) successes, barriers and required resources/training needs. RESULTS: Responses were received from 187 centres (28 countries represented). There was consensus that a psychologist should be responsible for MH care, although members of the multidisciplinary team (MDT) believed they should also share this responsibility. Sixty-two percent of respondents were aware of the guidelines; 82% percent fully, and 12% partially, agreed with them. Fifty percent (94 centres) had implemented screening. In the past year approximately 6000 patients and 2000 caregivers had been screened, with 80% of respondents using the recommended screening tools. Respondents reported 551 referrals for moderate/severe psychopathology and 84 urgent suicide ideation referrals. CONCLUSIONS: The challenges of different healthcare systems and language barriers are being overcome with a greater awareness of the importance of mental health among the MDT. MH screening is feasible and gaining momentum in both Western and Eastern Europe.


Subject(s)
Anxiety/diagnosis , Cystic Fibrosis , Depression/diagnosis , Mass Screening/methods , Mental Health , Practice Guidelines as Topic , Adult , Anxiety/epidemiology , Anxiety/physiopathology , Caregivers/psychology , Child , Communication Barriers , Cystic Fibrosis/epidemiology , Cystic Fibrosis/psychology , Cystic Fibrosis/therapy , Depression/epidemiology , Depression/physiopathology , Europe/epidemiology , Female , Guideline Adherence , Health Care Rationing , Health Services Needs and Demand , Humans , Male , Mental Health/standards , Mental Health/statistics & numerical data , Suicidal Ideation
3.
Internist (Berl) ; 59(11): 1138-1145, 2018 Nov.
Article in German | MEDLINE | ID: mdl-30229366

ABSTRACT

Cystic fibrosis (CF) is an inherited incurable multi-organ disease. Improvement in treatment approaches over the last 20 years have led to an increased life expectancy where the number of adult patients has doubled and will continue to increase exponentially. Due to the use of new substances which modulate the basic defect, a substantial improvement in the prognosis can be assumed but the existing healthcare structures in Germany do not meet these rising needs. With more than 50% of patients being adults, there are only very few internal medicine centers available. Only approximately one third of the patients are treated in adult health centers. Adolescence in particular is a very vulnerable phase of the disease, the risk of comorbidities is increased and adherence to the very laborious treatment recommendations is as a rule low. While in many other countries transition programs have been evaluated and implemented for more than 20 years, in Germany there have only been rudimentary approaches to transition. Meanwhile investigations are available on the perceptions of adolescents with respect to coping with the disease and their treatment needs, including the perception of the time when the transition process should begin. Successful transition seems to be performed best in combined pediatric and adult centers, with the back-up of an experienced multidisciplinary team of healthcare providers.


Subject(s)
Continuity of Patient Care , Cystic Fibrosis/therapy , Delivery of Health Care/organization & administration , Transition to Adult Care/organization & administration , Adolescent , Adult , Child , Germany , Humans , Internal Medicine
4.
Clin Radiol ; 72(9): 754-763, 2017 Sep.
Article in English | MEDLINE | ID: mdl-28545684

ABSTRACT

AIM: To evaluate different magnetic resonance imaging (MRI) sequences for diagnosis of pulmonary manifestations of cystic fibrosis (CF) in comparison to chest computed tomography (CT), including an extended outcome analysis. MATERIALS AND METHODS: Twenty-eight patients with CF (15 male, 13 female, mean age 30.5±9.4 years) underwent CT and MRI of the lung. MRI (1.5 T) included different T2- and T1-weighted sequences: breath-hold HASTE (half Fourier acquisition single shot turbo spin echo) and VIBE (volumetric interpolated breath-hold examination, before and after contrast medium administration) sequences and respiratory-triggered PROPELLER (periodically rotated overlapping parallel lines with enhanced reconstruction) sequences with and without fat signal suppression, and perfusion imaging. CT and MRI images were evaluated by the modified Helbich and the Eichinger scoring systems. The clinical follow-up analysis assessed pulmonary exacerbations within 24 months. RESULTS: The highest concordance to CT was achieved for the PROPELLER sequences without fat signal suppression (concordance correlation coefficient CCC of the overall modified Helbich score 0.93 and of the overall Eichinger score 0.93). The other sequences had the following concordance: PROPELLER with fat signal suppression (CCCs 0.91 and 0.92), HASTE (CCCs 0.87 and 0.89), VIBE (CCCs 0.84 and 0.85) sequences. In the outcome analysis, the combined MRI analysis of all five sequences and a specific MRI protocol (PROPELLER without fast signal suppression, VIBE sequences, perfusion imaging) reached similar correlations to the number of pulmonary exacerbations as the CT examinations. CONCLUSION: An optimum lung MRI protocol in patients with CF consists of PROPELLER sequences without fat signal suppression, VIBE sequences, and lung perfusion analysis to enable high diagnostic efficacy and outcome prediction.


Subject(s)
Cystic Fibrosis/diagnostic imaging , Image Enhancement/methods , Magnetic Resonance Imaging/methods , Tomography, X-Ray Computed/methods , Adult , Contrast Media , Female , Humans , Image Interpretation, Computer-Assisted/methods , Male , Middle Aged , Prospective Studies
5.
J Antimicrob Chemother ; 71(3): 711-7, 2016 Mar.
Article in English | MEDLINE | ID: mdl-26626719

ABSTRACT

OBJECTIVES: We evaluated the pharmacokinetics, safety and tolerability of two different continuous treatment regimens of tobramycin inhalation solution (TIS) in 29 cystic fibrosis (CF) patients chronically infected with Pseudomonas aeruginosa. PATIENTS AND METHODS: In this randomized, multicentre, open-label, two-period crossover study, TIS (300 mg/5 mL) was administered via PARI eFlow(®) rapid once daily and twice daily each for 8 weeks. Serum pharmacokinetics of these two regimens was analysed. Tobramycin levels were determined before the morning dose and at 30, 60 and 90 min after the end of nebulization in the middle and at the end of each 8 week cycle. At these timepoints, trough and peak serum tobramycin concentrations (Cmax, mg/L) as well as the area under the curve for 0-90 min of tobramycin (AUC0-90min) were assessed in order to evaluate the risk of systemic toxicity. Safety parameters and forced expiratory volume in 1 s (FEV1) were assessed. RESULTS: For once-daily treatment, tobramycin levels were 10% higher after 8 weeks compared with 4 weeks (AUC0-90min ratio = 1.096, 90% CI = 0.860-1.396, P = 0.5237). For twice-daily treatment, tobramycin levels after 8 weeks showed a 40% decrease compared with 4 weeks (AUC0-90min ratio = 0.608, 90% CI = 0.461-0.802, P = 0.0055). The AUC0-90min ratio at 8 weeks (once daily versus twice daily) did not differ significantly (AUC0-90min ratio = 0.749, 90% CI = 0.514-1.092, P = 0.2009). The mean FEV1 did not differ markedly compared between treatment periods or with baseline. No audiological or nephrotoxic side effects were noted. CONCLUSIONS: Continuous treatment with TIS (once daily or twice daily) over 8 weeks appears to be safe and tolerable.


Subject(s)
Anti-Bacterial Agents/administration & dosage , Cystic Fibrosis/complications , Pneumonia, Bacterial/drug therapy , Pseudomonas Infections/drug therapy , Tobramycin/administration & dosage , Administration, Inhalation , Adolescent , Adult , Anti-Bacterial Agents/adverse effects , Anti-Bacterial Agents/pharmacokinetics , Child , Cross-Over Studies , Female , Humans , Male , Pseudomonas aeruginosa/drug effects , Serum/chemistry , Tobramycin/adverse effects , Tobramycin/pharmacokinetics , Young Adult
6.
Internist (Berl) ; 56(3): 263-74, 2015 Mar.
Article in German | MEDLINE | ID: mdl-25693903

ABSTRACT

Cystic fibrosis (CF) is an autosomal recessive inherited metabolic disease. The mutation is located on the long arm of chromosome 7. Due to a defect in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, chloride ion transport is reduced across the cell membrane. As a result, the disease can be described as an exocrinopathy. In all organs with exocrine glands, disorders occur in association with the defective chloride transport. The main impact of this defect is manifested in the lungs. Therefore, the most common cause of death is pulmonary disease with respiratory insufficiency due to recurrent infections. Unfortunately, a cure for the disease is still not available. However, new therapies that may affect the CFTR mutation more specifically give new hope for better therapeutic options in the future. The long-term goal of therapy is to develop a causal therapy for all six different mutation classes and thus for about 2000 mutations.


Subject(s)
Cystic Fibrosis/complications , Cystic Fibrosis/diagnosis , Pneumonia/diagnosis , Pneumonia/etiology , Respiratory Insufficiency/diagnosis , Respiratory Insufficiency/etiology , Cystic Fibrosis/therapy , Diagnosis, Differential , Humans , Pneumonia/therapy , Respiratory Insufficiency/therapy
7.
J Cyst Fibros ; 10 Suppl 2: S82-5, 2011 Jun.
Article in English | MEDLINE | ID: mdl-21658648

ABSTRACT

The inclusion of health-related quality of life (HRQoL) as an outcome measure in cystic fibrosis (CF) clinical trials can supply important patient-reported information not captured by other endpoints. Both an appropriate HRQoL measure and sound methodology are required in order to draw valid inferences about treatments and HRQoL. This paper provides the current consensus of the HRQoL Outcomes Group. Particular consideration has been given to the appropriateness of measurement scales, the rationale for including specific domains as endpoints, the importance of considering baseline ceiling effects and the difficulties of data interpretation. Guidance is provided on HRQoL measurement in National and European CF clinical trials.


Subject(s)
Clinical Trials as Topic/standards , Cystic Fibrosis/therapy , Outcome Assessment, Health Care/standards , Practice Guidelines as Topic , Quality of Life , Cystic Fibrosis/psychology , Europe , Humans
8.
J Pediatr Gastroenterol Nutr ; 50(3): 347-9, 2010 Mar.
Article in English | MEDLINE | ID: mdl-20179644

ABSTRACT

In Cftr-/- mice that mostly die because of intestinal obstruction, intestinal expression of Clca3 is decreased, whereas upregulation of Clca3 results in amelioration of intestinal disease. The aim of the study was to investigate whether the p.S357N variant in CLCA1, the human orthologue of Clca3, acts as a modifier gene in a cohort of 682 European patients with cystic fibrosis (CF)-99 patients with meconium ileus. The 357SS genotype was significantly overrepresented in both patients with meconium ileus and also with a severe CFTR genotype (P = 0.009) and in p.F508del homozygotes (P = 0.002). This suggests that CLCA1 has similar important functions in CF-related intestinal obstruction in humans as in Cftr-/- mice.


Subject(s)
Chloride Channels/genetics , Cystic Fibrosis Transmembrane Conductance Regulator/genetics , Cystic Fibrosis/genetics , Genetic Variation , Ileus/genetics , Adolescent , Adult , Child , Cystic Fibrosis/complications , Europe , Female , Genotype , Humans , Ileus/complications , Infant, Newborn , Male , Meconium , Young Adult
9.
Infection ; 37(5): 418-23, 2009 Oct.
Article in English | MEDLINE | ID: mdl-19756419

ABSTRACT

BACKGROUND/AIM: We hypothesized that a continuous 24-h infusion of 100 mg/kg per day ceftazidime (treatment C) would result in equivalent or even superior anti-infectious efficacy in chronic Pseudomonus aeruginosa (PA) infection in patients with cystic fibrosis (CF) in comparison to the usual application of 200 mg/kg per day ceftazidime in three doses (treatment T). METHODS: This was a randomized crossover study comparing outcome after 14 days and 35 days. Tobramycin administered once daily (10 mg/kg per day) was administered concomitantly in both groups. The primary end-point was a decrease in the leukocyte count, and the secondary endpoints were clinical and lung function parameters, Pseudomonas quantification in sputum, and inflammation markers (immunogloblulin [Ig] G, C-reactive protein [CRP]) in serum. All patients received antibiotics electively as 14-day courses on a regular basis, not for acute exacerbations. RESULTS: Fifty-six patients (29 females, mean patient age 14.4 years, age range 5-37) initially received treatments C or T, followed by the alternative treatment after a mean interval of 37 (+/- 21) weeks. After 2 weeks of antibiotic treatment, the overall study group showed significant improvements compared to baseline for body weight, leukocyte counts, CRP, forced expiratory volume in 1 s (FEV(1)), FVC (forced vital capacity), and bacterial load in the airways, with no significant differences between treatment groups. Both regimens were well tolerated. Three weeks after cessation of antimicrobial therapy, leukocytes and PA density had returned to pre-treatment values. CONCLUSION: We conclude that continuous or thrice-daily dosing of intravenous ceftazidime, both combined with once-daily tobramycin, are equally effective application regimens for elective antipseudomonal therapy in clinically stable patients with CF.


Subject(s)
Anti-Bacterial Agents/administration & dosage , Ceftazidime/administration & dosage , Cystic Fibrosis/complications , Pneumonia, Bacterial/drug therapy , Pseudomonas Infections/drug therapy , Adolescent , Adult , Child , Child, Preschool , Cross-Over Studies , Female , Humans , Infusions, Intravenous , Injections, Intravenous , Male , Pneumonia, Bacterial/pathology , Pseudomonas Infections/pathology , Tobramycin/administration & dosage , Treatment Outcome , Young Adult
10.
Pneumologie ; 63(8): 451-60, 2009 Aug.
Article in German | MEDLINE | ID: mdl-19670104

ABSTRACT

Lung transplantation in cystic fibrosis is an established therapy, due to the fact that vast majority of adult CF patients will develop respiratory failure. Even adolescents and children can be transplanted successfully today. Lung transplantation in cystic fibrosis requires special consideration concerning candidate selection, surgery and postoperative follow-up care. Due to a donor shortage and increasing waiting time, early referral to transplant centres of potential candidates is crucial. In the process of candidate selection, assumed improvements in quality of life and survival benefit should be weighed against contraindications. Centre-based follow-up and close cooperation with local physicians are key factors for success. During follow-up care, the transplantation team should be contacted immediately in the case of any problem or change in medication.


Subject(s)
Cystic Fibrosis/surgery , Lung Transplantation/methods , Lung Transplantation/trends , Pulmonary Medicine/trends , Germany , Humans
11.
Article in English | MEDLINE | ID: mdl-18622087

ABSTRACT

INTRODUCTION: In cystic fibrosis (CF), bone mass deficits as well as a lack of muscle mass and force have been described. The bone mass deficits are thought to be at least in part secondary to the reduced muscle mass. Whole body vibration has recently been suggested as an effective technique to increase muscle force and power. The aim of this pilot study was to evaluate the compliance and safety of a side-alternating, whole body vibration platform in patients with CF and to assess its effects on muscle force, muscle power, bone mass and lung function. PATIENTS AND METHODS: Eleven adult CF patients participated in a six-months home-based training programme on a whole body vibration platform. Muscle force and power were assessed with three standard manoeuvres on a ground reaction force plate at regular intervals. Bone densitometry was performed at the spine, the radius and the tibia using quantitative computerized tomography. RESULTS: Regular cardiovascular monitoring did not show any critical drop in oxygen saturation or blood pressure. Lung function remained relatively constant with a median FEV1 change [% of norm] of -3.1% (range -7-20). Trabecular density at the spine and parameters of bone density and geometry at the radius and tibia did not show consistent changes. A median decrease of -0.3% (-31.0-17.9) for muscle force and a median increase of 4.7% (-16.4-74.5) for muscle power and 6.6% (-0.9-48.3) for velocity was noted in the two-leg jump. In the one-leg jump, a median increase of 6.7% (-8.5-24.3) for muscle force was measured. CONCLUSIONS: Whole body vibration was well tolerated in the majority of the study participants. Most patients were able to increase peak force in the one-leg jump. In the two-leg jump, velocity and muscle power increased with equal or decreased muscle force. This may indicate an improvement in neuromuscular and intramuscular co-ordination (and therefore efficiency) with less muscle force necessary to generate the same power.


Subject(s)
Cystic Fibrosis/therapy , Vibration/therapeutic use , Adult , Bone Density , Cystic Fibrosis/physiopathology , Forced Expiratory Volume , Humans , Leg/physiopathology , Lung/physiopathology , Movement , Muscle Strength , Muscle, Skeletal/physiopathology , Pilot Projects , Radius/metabolism , Spine/metabolism , Tibia/metabolism , Time Factors , Treatment Outcome , Young Adult
12.
J Eur Acad Dermatol Venereol ; 20(3): 248-54, 2006 Mar.
Article in English | MEDLINE | ID: mdl-16503881

ABSTRACT

AIM: To report on quality of life (QoL) and health-related quality of life (HRQL) impacts of pimecrolimus (Elidel, Novartis A.G., Basel, Switzerland, SDZ ASM 981) 1% cream in the long-term treatment of paediatric atopic dermatitis. METHODS: QoL and HRQL data are presented from two 12-month international clinical trials evaluating the efficacy and safety of pimecrolimus 1% cream. Both trials were randomized and double blinded and compared two treatment strategies, one involving the use of emollients, pimecrolimus and topical corticosteroids, the other is 'usual care' (emollients plus topical corticosteroids) with a vehicle cream to maintain study blinding. The first trial (the infant trial) involved patients between ages 3 months and 2 years, whereas the children trial included patients aged 2-17 years. In both trials, QoL of the affected child's parent was evaluated with the parent's index of quality of life in atopic dermatitis (PIQoL-AD). HRQL was assessed in the children trial only with the children's dermatology life quality index (CDLQI). QoL and HRQL assessments were conducted at baseline, 6 weeks, 6 months and 12 months. RESULTS: Generalized linear modelling of PIQoL-AD scores at each post-baseline visit showed a greater impact on parent's QoL for pimecrolimus compared with control at all time-points in both trials. HRQL scores showed a greater improvement from baseline for children in the pimecrolimus group compared with those in the control group at all time-points. CONCLUSIONS: The results show a beneficial impact of pimecrolimus on parents' QoL in paediatric atopic dermatitis, confirming findings from earlier shorter term trials. There was also a clear benefit to the HRQL of the children treated.


Subject(s)
Dermatitis, Atopic/drug therapy , Dermatitis, Atopic/psychology , Dermatologic Agents/administration & dosage , Quality of Life , Tacrolimus/analogs & derivatives , Administration, Cutaneous , Adolescent , Adult , Calcineurin Inhibitors , Child , Child Welfare , Child, Preschool , Dermatitis, Atopic/pathology , Female , Humans , Infant , Male , Peptidylprolyl Isomerase/antagonists & inhibitors , Randomized Controlled Trials as Topic , Severity of Illness Index , Surveys and Questionnaires , Tacrolimus/administration & dosage , Treatment Outcome
13.
Br J Dermatol ; 152(5): 1033-8, 2005 May.
Article in English | MEDLINE | ID: mdl-15888166

ABSTRACT

We report an adolescent girl with a history of angiolymphoid hyperplasia with eosinophilia (ALHE) diagnosed at the age of 10 years. The patient also suffered from chronic persistent multiresistant herpes simplex virus infection. Atherosclerotic occlusive disease of the abdominal aorta and its major branches was observed at the age of 17 years, necessitating vascular surgical intervention 1 year later because of disease progression. Histological examination of the aorta disclosed widespread atherosclerosis and high levels of gene expression of both T-helper cell type (Th) 1- and Th2-derived cytokines. This suggests that a highly stimulated systemic immune response including increased production of both Th1- and Th2-derived cytokines such as interferon-gamma and interleukin-4 may result in severe atherosclerotic lesions at a very young age. In addition, the patient developed a peripheral T-cell lymphoma at the age of 18 years. Neither systemic atherosclerosis nor T-cell lymphoma has been reported in association with ALHE. It is suggested that a highly stimulated dysfunctional immune response may play a key role in persistent inflammatory disease and premature development of atherosclerosis as well as malignant transformation of T cells.


Subject(s)
Angiolymphoid Hyperplasia with Eosinophilia/complications , Aortic Valve Stenosis/etiology , Arteriosclerosis/etiology , Lymphoma, T-Cell, Peripheral/etiology , Adolescent , Angiolymphoid Hyperplasia with Eosinophilia/immunology , Aorta, Abdominal , Aortic Valve Stenosis/immunology , Arteriosclerosis/immunology , Cytokines/blood , Female , Humans , Lymphoma, T-Cell, Peripheral/immunology , T-Lymphocyte Subsets/immunology
14.
Klin Padiatr ; 216(1): 1-6, 2004.
Article in German | MEDLINE | ID: mdl-14747963

ABSTRACT

BACKGROUND: Regarding the measurement of psychosocial adaptation due to chronic diseases in childhood and adolescence, there is a shift from a more reductionist and biomedical oriented disease-model towards a more integrated, biopsychosocial view of chronic diseases. The three paradigms in measuring psychosocial adaptation (psychopathology, coping, health related quality of life) will be discussed at the example of corresponding empirical studies in children with asthma bronchiale. The psychopathology-oriented research emphasizes the risk of the induced psychopathological comorbidity, whereas the more coping-oriented paradigm primarily includes the dynamic process of the perceived stress and the corresponding coping efforts due to a chronic disease. The third paradigm, the quality of life paradigm, sets its main focus on the subjective view of the chronically ill subject. CONCLUSIONS: In future studies, all three paradigms--each measuring different aspects of psychosocial adaptation--should be simultaneously included to come to a more complex view of adaptation in chronic diseases in general and asthma bronchiale in particular.


Subject(s)
Adaptation, Psychological , Asthma/psychology , Personality Assessment , Quality of Life/psychology , Sick Role , Child , Family/psychology , Humans , Patient Care Team
15.
Hautarzt ; 54(10): 946-51, 2003 Oct.
Article in German | MEDLINE | ID: mdl-14513241

ABSTRACT

Atopic eczema (AE) is a common, chronically relapsing, inflammatory skin disease with an early onset during infancy associated with a high loss of quality of life and socioeconomic burden. In the past few years, an Atopic Eczema Prevention Program was established to improve disease management and the quality of life of patients with atopic eczema. In Germany, the Task Force on Education Programs for Atopic Eczema (AGNES = Arbeitsgemeinschaft Neurodermitis Schulung) for children, youths, and parents was founded as well as the Task Force on Dermatological Prevention (ADP) for adults. These groups ensure structure and process quality of the prevention programs and organize train-the-trainer workshops. In a randomized prospective controlled trial (the German Randomized Intervention Multicenter Study = GRIMS), we are currently comparing the effectiveness of an atopic eczema group intervention program in (1) parents of atopic eczema children aged 0-7 years, (2) parents and children 7-12 years old, and (3) youths with AE aged between 13 and 18 years. The groups were randomized and compared with a waiting control group. The design and first results will be reported.


Subject(s)
Dermatitis, Atopic/prevention & control , Patient Education as Topic , Adolescent , Adult , Age Factors , Child , Child, Preschool , Female , Germany , Humans , Infant , Infant, Newborn , Male , Parents , Pregnancy , Prospective Studies , Quality of Life
16.
Eur Respir J ; 19(2): 374-6, 2002 Feb.
Article in English | MEDLINE | ID: mdl-11866018

ABSTRACT

By using a combination of multiplex polymerase chain reaction and allele-specific labelled probes, the oligo-ligation assay is designed to detect known cystic fibrosis transmembrane regulator mutations. This study shows that this assay may also be useful to detect new mutations. The second child of a family of Bosnic origin showed all the symptoms of intestinal and pulmonary manifestations of cystic fibrosis. No signal could be obtained for the allele-specific probe 1898+1G>A. This could be explained by a nearby localized sequence change that prevented polymerase chain reaction primers or oligonucleotide probes from binding to the target sequence. Indeed, sequence analysis revealed a new 1894G>T exchange (Glu587Stop). Both parents and the healthy brother carried this mutation. Thus, the index patient was homozygous for 1894G>T, which was inherited from both parents.


Subject(s)
Codon, Nonsense , Cystic Fibrosis Transmembrane Conductance Regulator/genetics , Cystic Fibrosis/genetics , Bosnia and Herzegovina , Genetics, Population , Homozygote , Humans , Infant , Polymerase Chain Reaction
17.
Pediatr Allergy Immunol ; 12(4): 216-23, 2001 Aug.
Article in English | MEDLINE | ID: mdl-11555319

ABSTRACT

Cyclosporin A (CsA) is an effective and well-tolerated treatment for severe childhood atopic dermatitis (AD). By starting at a low dose, the therapeutic safety should be further increased. The aim of this study was to evaluate low-dose CsA in childhood AD with respect to clinical outcome and modulation of T-cell dysregulation. In an open prospective study, 10 children (age: 22-106 months) with severe AD (mean objective SCORAD score > 40 on two baseline measurements at a minimum interval of 2 weeks) were treated with CsA solution for 8 weeks. All patients received a starting dose of 2.5 mg/kg/day, which was increased stepwise in non-responders to a maximum of dose of 5 mg/kg/day. Disease activity was monitored using the SCORAD index. The frequency of cytokine-producing peripheral blood T lymphocytes was analyzed by intracellular cytokine staining, and T-cell numbers were measured by fluorescence-activated cell sorter (FACS) analysis. Twenty healthy age-matched children were included as controls for the immunological data. Nine of the 10 patients had a SCORAD reduction of at least 35%. In seven patients this was achieved with low-dose CsA at 2.5 mg/kg/day (n = 4) and 3.5 mg kg/day (n = 3). Seven of the nine responders experienced no relapse within the 4-week follow-up period. At baseline the percentage of interleukin-4 (IL-4), IL-13, and human leucocyte antigen (HLA)-DR-positive CD3(+) cells was higher in the patient group than in the controls. After CsA treatment there was a significant reduction in interferon-gamma (IFN-gamma), IL-2, IL-4, IL-13, and HLA-DR-positive CD3(+) cells. Hence, in severe pediatric AD, CsA microemulsion, when started at a low dose (2.5 mg/kg/day), improves clinical measures of disease, reduces T-lymphocyte cytokine production, and regulates T-cell activation.


Subject(s)
Cyclosporine/therapeutic use , Dermatitis, Atopic/drug therapy , Adolescent , Child , Cyclosporine/administration & dosage , Dose-Response Relationship, Drug , Drug Administration Schedule , Female , Humans , Interleukin-13/metabolism , Interleukin-4/metabolism , Lymphocyte Subsets , Male , Severity of Illness Index
18.
Eur J Pediatr ; 160(11): 645-8, 2001 Nov.
Article in English | MEDLINE | ID: mdl-11760018

ABSTRACT

UNLABELLED: We report on two children with cerebral tuberculomas leading to late dramatic clinical exacerbation after appropriate antituberculous chemotherapy and high-dose corticosteroids. A 6-year-old girl with tuberculous meningoencephalitis initially fully recovered. However, after 9 months of continuous therapy she presented with acute increased intracranial pressure caused by tuberculomas requiring rapid drainage of CSF. A 16-year-old boy with miliary pulmonary tuberculosis and severe meningoencephalitis had reached a stable condition for more than 10 months although still suffering from a left-dominant spasticity and motor dysphasia. Fifteen months after initiation of therapy he presented with an acute central paralysis of the left facial nerve, progressive hemiplegia, severe ataxia and increasing lethargy caused by a cerebral tuberculoma with a perifocal oedema. Prolonged treatment with antituberculous chemotherapy and high-dose corticosteroids led to complete recovery in the younger patient and marked improvement in the older patient who remains severely handicapped. CONCLUSION: Patients with initially successful treatment of central nervous system tuberculosis should undergo an alert follow-up for the development of late cerebral tuberculomas. Treatment should consist of prolonged courses of antituberculous chemotherapy and high-dose corticosteroids.


Subject(s)
Brain Diseases/etiology , Meningoencephalitis/complications , Mycobacterium tuberculosis , Tuberculoma, Intracranial/etiology , Tuberculosis, Meningeal/complications , Adolescent , Antitubercular Agents/therapeutic use , Brain Diseases/pathology , Child , Female , Follow-Up Studies , Humans , Magnetic Resonance Imaging , Male , Meningoencephalitis/drug therapy , Meningoencephalitis/pathology , Mycobacterium tuberculosis/drug effects , Mycobacterium tuberculosis/isolation & purification , Tomography, X-Ray Computed , Tuberculoma, Intracranial/pathology , Tuberculosis, Meningeal/drug therapy , Tuberculosis, Meningeal/pathology
19.
Klin Padiatr ; 212(5): 260-5, 2000.
Article in German | MEDLINE | ID: mdl-11048285

ABSTRACT

Focussing on processes of body perception is a major pathway of relaxation therapies (progressive relaxation, autogenic training, guided imagery, hypnotherapy, biofeedback). Traditionally its application has been related to psychosomatic and psychotherapeutic indications. Beyond this classical approach, recent behavioral medicine has emphasized the relevance of interoception processes and adequate attribution patterns concerning bodily sensations as a major source of adequate coping and self-management with somatic illness. Clinical application may refer to an improved cognitive-behavioral pain management in disease and treatment related conditions. Especially children and adolescents suffering from chronic conditions that may exacerbate rapidly may benefit from an education approach that teaches them to perceive their disease-related complaints and symptoms accurately and to attribute them correctly. A precise, panic-free and immediate symptom recognition of sudden airway obstruction is an important precondition of adequate coping with acute asthma crisis and starting risk orientated antiasthmatic treatment. In a similar way, the child with diabetes mellitus may identify early signs of hypoglycemia by self-observation, recognition and discrimination of physical, vegetative and psychological indicators of blood glucose decline that enable the child to take appropriate countermeasures. Other childhood disorders that offer chances for symptomatic self-monitoring and self-control comprise atopic dermatitis or epileptic seizures. Training young patients in precise symptom recognition may not only empower them in handling acute crisis but also strengthen global development of autonomy, control beliefs, self-responsibility and self-esteem.


Subject(s)
Chronic Disease/psychology , Chronic Disease/therapy , Monitoring, Physiologic/psychology , Patient Education as Topic/methods , Self Care , Stress, Psychological/therapy , Asthma/psychology , Asthma/therapy , Child , Dermatitis, Atopic/psychology , Dermatitis, Atopic/therapy , Diabetes Mellitus/psychology , Diabetes Mellitus/therapy , Epilepsy/psychology , Epilepsy/therapy , Germany , Humans , Imagery, Psychotherapy , Pain/psychology , Pain Management , Perception , Relaxation Therapy , Stress, Psychological/etiology
20.
Patient Educ Couns ; 40(3): 253-61, 2000 Jun.
Article in English | MEDLINE | ID: mdl-10838004

ABSTRACT

Childhood atopic dermatitis (AD) is a common disease with the prevalence rates increasing. Its chronic course with frequent relapses puts a special burden on both children and their parents. To maximise positive long-term outcome in the management of AD it is important to support parents in dealing with the chronic condition of their child in addition to treating symptoms. In the present article, we describe in detail the goals, structure, and content of the Berlin education program for parents of children with AD. The program aims to contribute towards a comprehensive, family-oriented management of childhood AD. Its objective is to improve parent's self-management skills with regard to their child's disease and to positively impact the course of the disease as well as the family's quality of life. Medical, nutritional and psychological issues are covered in six group sessions which are conducted by a multiprofessional team of paediatricians, psychologists and dieticians. Preliminary data show that the program has a desirable effect on aspects of quality of life and coping.


Subject(s)
Dermatitis, Atopic/psychology , Health Education/organization & administration , Models, Educational , Parents/education , Adult , Child , Humans , Program Evaluation
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