scholarly journals The first 4 years - Outcome of children identified by newborn screening for CF in Germany

Author(s):  
Katharina Schuetz ◽  
Julia Kontsendorn ◽  
Nils Janzen ◽  
Jan Fuge ◽  
Simon Grewendorf ◽  
...  

Background: Newborn screening (NBS) has been shown to improve CF disease course and has been widely implemented worldwide. This monocentric study compared children diagnosed by NBS vs. a cohort preceding the implementation of NBS in Germany in 2016 to evaluate ascribed benefits of NBS. Methods: We compared all children with confirmed CF diagnosis (n=19, “NBS group”) out of all children presenting with positive NBS at our center after implementation of NBS (n=100) to children diagnosed with CF at our center within 4 years before NBS implementation (n=29, “pre-NBS group”) for outcomes of anthropometry, gastrointestinal and pulmonary disease manifestations and respiratory microbiology. Results: Children diagnosed by NBS had a lower incidence of initial feeding problems (15% vs. 41%), had a higher BMI z-score at diagnosis and higher mean z-scores for BMI, weight and length during the study period. Children in the pre-NBS group displayed higher proportions of oxygen-dependent pulmonary exacerbations (10% vs. 0%), a significantly lower amount of normal bacterial flora (p=0.005) along with a significantly higher number of throat swab cultures positive for Pseudomonas aeruginosa (p=0.0154) in the first year of life. Yet, pulmonary imaging did not reveal less pulmonary morbidity in the NBS compared to the pre-NBS group. Conclusions: Our results confirm that NBS for CF leads to earlier diagnosis and improves nutritional outcomes in early childhood. Although trajectories of structural lung damage at early age were unaffected by NBS, NBS positive CF patients at preschool age displayed less severe pulmonary exacerbations and pathological bacteria in throat swabs.

2020 ◽  
Vol 179 (11) ◽  
pp. 1683-1688
Author(s):  
Jos M. T. Draaisma ◽  
Joris Drossaers ◽  
Lenie van den Engel-Hoek ◽  
Erika Leenders ◽  
Joyce Geelen

Abstract Noonan syndrome (NS) is a common genetic syndrome with a high variety in phenotype. Even though genetic testing is possible, NS is still a clinical diagnosis. Feeding problems are often present in infancy. We investigated the feeding status of 108 patients with clinically and genetically confirmed NS. Only patients with a documented feeding status before the age of 6 were included. A distinction was made between patients with early onset feeding problems (< 1 year) and children with late onset feeding problems (> 1 year). Seventy-one of 108 patients had feeding problems, of which 40 patients required tube feeding. Children with a genetic mutation other than PTPN11 and SOS1 had significantly more feeding problems in the first year. Fifty-two of all 108 patients experienced early onset feeding problems, of which 33 required tube feeding. A strong decrease in prevalence of feeding problems was found after the first year of life. Fifteen children developed feeding problems later in life, of which 7 required tube feeding. Conclusion: Feeding problems occur frequently in children with NS, especially in children with NS based on genetic mutations other than PTPN11 and SOS1. Feeding problems develop most often in infancy and decrease with age. What is Known:• Young children with Noonan syndrome may have transient feeding problems.• Most of them will need tube feeding. What is New:• This is the first study of feeding problems in patients with clinically and genetically proven Noonan syndrome.• Feeding problems most often develop in infancy and resolve between the age of 1 and 2.


2018 ◽  
Vol 40 (4) ◽  
pp. 335-346 ◽  
Author(s):  
Laura Seiverling ◽  
Patricia Towle ◽  
Helen M. Hendy ◽  
Joanna Pantelides

Feeding problems are known to be an important clinical issue for children with autism spectrum disorder (ASD), but the majority of studies on this topic have been carried out on children preschool age and older. It is important to understand whether these difficulties begin prior to age 3 years, as well as what parameters are important to study for both assessment and intervention. The present study used an early intervention chart abstraction method to examine prevalence of feeding problems in children below 3 years of age with ASD compared with those evaluated for non-ASD language delays (LD). Prevalence of feeding problems detected by speech therapists and psychologists was higher for the ASD group than for the comparison group, with the ASD group showing more food selectivity by texture (23.1% vs. 7.1%), more food selectivity by type (24.4% vs. 11.8%), more new food refusal (10.3% vs. 0%), and more food overstuffing (14.1% vs. 3.5%). We also examined the relationship between the total number of four feeding problems and child characteristics/demographics (ASD or LD diagnosis, gender, age of first evaluation, neighborhood income). Significantly more feeding problems were seen for children with ASD. As well, feeding problems were more prevalent for males. Associations between feeding problems and the other variables, as well as interactions, were not significant.


Author(s):  
Dr Mark Harrison

1.1 Barriers to infection, 151 1.2 Normal bacterial flora, 152 1.3 Phagocytes and complement, 152 • Anatomical barrier physically preventing invasion of microorganisms. • Chemical barrier providing unfavourable conditions for most organisms to survive due to: ▪ Free fatty acids produced by the sebaceous glands and skin flora...


2019 ◽  
Vol 149 (12) ◽  
pp. 2182-2190 ◽  
Author(s):  
Taniqua T Ingol ◽  
Rui Li ◽  
Kelly M Boone ◽  
Joseph Rausch ◽  
Mark A Klebanoff ◽  
...  

ABSTRACT Background Dietary DHA intake among US toddlers is low. Healthy physical growth is an important objective for the clinical care of children born preterm. Objectives The aim of the trial was to examine the effects of supplementing toddlers born preterm with DHA and arachidonic acid (AA) for 180 d on growth and adiposity. Methods Omega Tots, a randomized placebo-controlled trial, was conducted between April 2012 and March 2017. Children born at &lt;35 wk gestation who were 10–16 mo in corrected age were assigned to receive daily oral supplements of DHA and AA (200 mg each, “DHA + AA”) or corn oil (placebo) for 180 d. Prespecified secondary outcomes included weight, length, head circumference, mid-upper arm circumference, triceps and subscapular skinfolds, BMI, and their respective z scores, and body fat percentage, which were measured at baseline and trial completion. Mixed-effects regression was used to compare the change in outcomes between the DHA + AA and placebo groups, controlling for baseline values. Results Among 377 children included in the analysis (median corrected age = 15.7 mo, 48.3% female), 348 (92.3%) had growth or adiposity data at baseline and trial end. No statistically significant differences between the DHA + AA and placebo groups in growth or adiposity outcomes were observed. For instance, the change in weight-for-age z scores was 0.1 for the DHA + AA group and 0.0 for the placebo group (effect size = 0.01, P = 0.99). However, post-hoc subgroup analyses revealed a statistically significant interaction between treatment group and sex, suggesting somewhat slower linear growth for females assigned to the DHA + AA group compared with the placebo group. Conclusions Among toddlers born preterm, daily supplementation with DHA + AA for 180 d resulted in no short-term differences in growth or adiposity compared with placebo. If DHA supplementation is implemented after the first year of life, it can be expected to have no effect on short-term growth or adiposity. This trial is registered with clinicaltrials.gov as NCT02199808.


2019 ◽  
Vol 31 (5) ◽  
pp. 714-718 ◽  
Author(s):  
Kristin A. Clothier ◽  
Simone Stoute ◽  
Andrea Torain ◽  
Beate Crossley

Avibacterium paragallinarum is the causative agent of infectious coryza, a highly contagious respiratory disease in chickens. Given its fastidious nature, this bacterium is difficult to recover and identify, particularly from locations colonized by normal bacterial flora. Standard PCR methods have been utilized for detection but are labor-intensive and not feasible for high-throughput testing. We evaluated a real-time PCR (rtPCR) method targeting the HPG-2 region of A. paragallinarum, and validated a high-throughput extraction for this assay. Using single-tube extraction, the rtPCR detected 4 A. paragallinarum (ATCC 29545T and 3 clinical) isolates with a limit of detection (LOD) of 10 cfu/mL and a PCR efficiency of 89–111%. Cross-reaction was not detected with 33 non– A. paragallinarum, all close relatives from the family Pasteurellaceae. Real-time PCR testing on extracts of 66 clinical samples (choana, sinus, or trachea) yielded 98.2% (35 of 36 on positives, 30 of 30 on negatives) agreement with conventional PCR. Duplicate samples tested in a 96-well format extraction in parallel with the single-tube method produced equivalent LOD on all A. paragallinarum isolates, and 96.8% agreement on 93 additional clinical samples extracted with both procedures. This A. paragallinarum rtPCR can be utilized for outbreak investigations and routine monitoring of susceptible flocks.


1997 ◽  
Vol 273 (4) ◽  
pp. C1160-C1167 ◽  
Author(s):  
Suzana D. Savkovic ◽  
Athanasia Koutsouris ◽  
Gail Hecht

The initial response to infection is recruitment of acute inflammatory cells to the involved site. Interleukin (IL)-8 is the prototypical effector molecule for this process. Transcription of the IL-8 gene is primarily governed by the nuclear transcription factor (NF)-κB. Intestinal epithelial cells produce IL-8 in response to infection by enteric pathogens yet remain quiescent in a milieu where they are literally bathed in normal bacterial flora. We therefore sought to investigate NF-κB activation in response to enteropathogenic Escherichia coli (EPEC), nonpathogenic E. coli, and bacterial lipopolysaccharide in an intestinal epithelial cell (T84) model and to determine whether EPEC-induced activation of NF-κB factor is causally linked to IL-8 production. We report herein that NF-κB is activated by EPEC, yet such a response is not extended to nonpathogenic organisms or purified E. coli lipopolysaccharide. Transcription factor decoys significantly diminished IL-8 production in response to EPEC, demonstrating a causal relationship. Furthermore, deletion of specific EPEC virulence genes abrogates the NF-κB-activating property of this pathogen, suggesting that specific bacterial factors are crucial for inducing this response. These studies show for the first time that infection of intestinal epithelial cells with EPEC activates NF-κB, which in turn initiates IL-8 transcription, and highlight the differential response of these cells to bacterial pathogens vs. nonpathogens.


2013 ◽  
Vol 5 (1) ◽  
pp. 28-32 ◽  
Author(s):  
D Karimsab ◽  
SK Razak

Introduction: Normal bacterial flora may be altered by a variety of factors. Objective: To study the aerobic bacterial conjunctival flora in patients with diabetes mellitus and to find its clinical significance by comparing the results to the conjunctival flora of non-diabetic subjects. Materials and methods: A total of 75 diabetic patients were included as cases and 25 nondiabetics as controls to compare the results. Specimens for the study of conjunctival flora were taken by rubbing sterile cotton-tipped swabs to the inferior palbebral conjunctiva. The conjunctival culture report of the patients with diabetic mellitus was compared to that of nondiabetic subjects. Results: Positive conjunctival cultures were seen in a higher percentage of patients with diabetes (unilateral and bilateral positive conjunctival cultures 34.66 % and 58.66 % respectively) compared to that in non-diabetic controls (unilateral and bilateral positive conjunctival cultures 24 % and 16 % respectively). Diabetics showed a higher proportion of coagulase negative staphylococci (45.33 %), compared to the non-diabetic group (16 %). Among the diabetic patients, positive conjunctival cultures were detected more frequently in those with diabetic retinopathy compared to those without retinopathy. A higher proportions of bilateral positive conjunctival cultures were seen in cases with proliferative diabetic retinopathy (38.63 %) in comparison to patients with no retinopathy and different stages of non-proliferative diabetic retinopathy. Conclusion: The conjunctival floral pattern with increased bacteria in diabetics is a predominant cause of many diabetes-related ocular infections. The presence of diabetic retinopathy is an indicator for increased colonization of conjunctiva, and its severity correlates with the severity of diabetic retinopathy. Nepal J Ophthalmol 2013; 5(9):28-32 DOI: http://dx.doi.org/10.3126/nepjoph.v5i1.7818


Author(s):  
Mark Harrison

This chapter describes the microbiology of natural and innate immunity as it applies to Emergency Medicine, and in particular the Primary FRCEM examination. The chapter outlines the key details of barriers to infection, normal bacterial flora, and phagocytes and complement. This chapter is laid out exactly following the RCEM syllabus, to allow easy reference and consolidation of learning.


Pharmacology ◽  
2019 ◽  
Vol 104 (1-2) ◽  
pp. 98-112 ◽  
Author(s):  
Katsuaki Dan ◽  
Naohiro Katoh ◽  
Takaaki Matsuoka ◽  
Katsuyuki Fujinami

Background: Historical evidence has verified the multifaceted antiviral efficacy of polyoxometalates (PMs). Methods: We carried out a study to investigate the antimicrobial effects of each of the 5 substances comprising virus block (VB): 3 PMs that have antibacterial and antiviral activity, an antibiotic agent, and an antibacterial agent. We also investigated the effectiveness of the addition of VB to moist hand towels in a study involving 120 volunteers. The time-dependent changes in metal ion concentrations in aqueous VB solution were analyzed using inductively coupled plasma atomic emission spectroscopy. Results: The metal elements in the aqueous VB solution remained stable for 12 weeks without undergoing time-dependent changes. Discussion: Further investigations were performed to study hand hygiene using moist hand towels in daily life settings. To this end, 120 volunteers provided 240 specimens that were used to investigate the presence of antibacterial compounds on the volunteers’ hands before and after hand towel use. An aliquot of each specimen was suspended in phosphate-buffered saline and plated on agar media, and the number of colonies formed was counted. Normal bacterial flora found on the hands of the volunteers was investigated before and after the use of 4 different moist hand towels. Conclusions: The effects of VB and PMs were superior to those of commercial moist hand towels, indicating that effective data were obtained that may be useful for the practical application of the tested items.


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