• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.20 no.3
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• pp.153-159
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• 2017

Purpose: Acid neutralization during chemical clearance is significantly prolonged in children with cystic fibrosis, compared to symptomatic children without cystic fibrosis. The absence of available reference values impeded identification of abnormal findings within individual patients with and without cystic fibrosis. The present study aimed to test the hypothesis that significantly more children with cystic fibrosis have acid neutralization durations during chemical clearance that fall outside the physiological range. Methods: Published reference value for acid neutralization duration during chemical clearance (determined using combined impedance/pH monitoring) was used to assess esophageal acid neutralization efficiency during chemical clearance in 16 children with cystic fibrosis (3 to < 18 years) and 16 age-matched children without cystic fibrosis. Results: Duration of acid neutralization during chemical clearance exceeded the upper end of the physiological range in 9 of 16 (56.3%) children with and in 3 of 16 (18.8%) children without cystic fibrosis (p=0.0412). The likelihood ratio for duration indicated that children with cystic fibrosis are 2.1-times more likely to have abnormal acid neutralization during chemical clearance, and children with abnormal acid neutralization during chemical clearance are 1.5-times more likely to have cystic fibrosis. Conclusion: Significantly more (but not all) children with cystic fibrosis have abnormally prolonged esophageal clearance of acid. Children with cystic fibrosis are more likely to have abnormal acid neutralization during chemical clearance. Additional studies involving larger sample sizes are needed to address the importance of genotype, esophageal motility, composition and volume of saliva, and gastric acidity on acid neutralization efficiency in cystic fibrosis children.

• Journal of Microbiology
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• v.45 no.3
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• pp.275-279
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• 2007

The aims of this study were to detect Burkholderia cepacia complex (Bcc) strains in a cohort of Cystic Fibrosis patients (n=276) and to characterize Bcc isolates by molecular techniques. The results showed that 11.23% of patients were infected by Bcc. Burkholderia cenocepacia lineage III-A was the most prevalent species (64.3%) and, of these, 10% was cblA positive and 50% esmR positive. Less than half of the strains were sensitive to ceftazidime, meropenem, piperacillin-tazobactam, and trimethoprim-sulfamethoxazole. About half of the strains (41%) had homogeneous profiles, suggesting cross-transmission. The infection by B. cenocepacia was associated to a high rate of mortality (p=0.01).

• Molecules and Cells
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• v.46 no.1
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• pp.10-20
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• 2023

Antisense oligonucleotide (ASO) technology has become an attractive therapeutic modality for various diseases, including Mendelian disorders. ASOs can modulate the expression of a target gene by promoting mRNA degradation or changing pre-mRNA splicing, nonsense-mediated mRNA decay, or translation. Advances in medicinal chemistry and a deeper understanding of post-transcriptional mechanisms have led to the approval of several ASO drugs for diseases that had long lacked therapeutic options. For instance, an ASO drug called nusinersen became the first approved drug for spinal muscular atrophy, improving survival and the overall disease course. Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause cystic fibrosis (CF). Although Trikafta and other CFTR-modulation therapies benefit most CF patients, there is a significant unmet therapeutic need for a subset of CF patients. In this review, we introduce ASO therapies and their mechanisms of action, describe the opportunities and challenges for ASO therapeutics for CF, and discuss the current state and prospects of ASO therapies for CF.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.25 no.1
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• pp.1-12
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• 2022

Inflammation plays an important role in the outcome of patients with cystic fibrosis (CF). It may develop due to cystic fibrosis transmembrane conductance regulator protein dysfunction, pancreatic insufficiency, or prolonged pulmonary infection. Fecal calprotectin (FC) has been used as a noninvasive method to detect inflammation. Therefore, the aim of the current meta-analysis was to investigate the relationship between FC and phenotype severity in patients with CF. In this study, searches were conducted in PubMed, Science Direct, Scopus, and Embase databases up to August 2021 using terms such as "cystic fibrosis," "intestine," "calprotectin," and "inflammation." Only articles published in English and human studies were selected. The primary outcome was the level of FC in patients with CF. The secondary outcome was the relationship between FC and clinical severity. Statistical analysis was performed using Comprehensive Meta-Analysis software. Of the initial 303 references, only six articles met the inclusion criteria. The mean (95% confidence interval [CI]) level of FC was 256.5 mg/dL (114.1-398.9). FC levels were significantly associated with pancreatic insufficiency (mean, 243.02; 95% CI, 74.3 to 411.6; p=0.005; I²=0), pulmonary function (r=-0.39; 95% CI, -0.58 to -0.15; p=0.002; I²=60%), body mass index (r=-0.514; 95% CI, 0.26 to 0.69; p<0.001; I²=0%), and Pseudomonas colonization (mean, 174.77; 95% CI, 12.5 to 337.02; p=0.035; I²=71%). While FC is a reliable noninvasive marker for detecting gastrointestinal inflammation, it is also correlated with the severity of the disease in patients with CF.

• Imaging Science in Dentistry
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• v.44 no.3
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• pp.243-247
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• 2014

A 28-year-old male patient with a history of cystic fibrosis (CF) was referred to the University of Connecticut School of Dental Medicine for an evaluation of a cystic lesion in the right maxilla using cone-beam computed tomography (CBCT). CF is an autosomal recessive disease characterized by an abnormal production of viscous mucus, affecting the mucociliary clearance. The CBCT scan revealed a large cystic lesion in the right maxilla extending from the right maxillary second molar to the midline in the region of the right central incisor with a significant buccal expansion. Further evaluation revealed complete opacification of the paranasal sinuses with medial bulging of the lateral maxillary sinus walls. The maxillary and sphenoid sinuses also appeared hypoplastic. The peculiar finding seen in this case was the presence of marked sclerosis and an increase in the thickness of the adjacent bony framework. This report aimed to describe the common sinonasal findings associated with CF and its underlying pathophysiology.

• Clinical and Experimental Pediatrics
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• v.56 no.10
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• pp.456-458
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• 2013

Cystic fibrosis (CF) is a genetic disease with autosomal recessive inheritance and is common in Caucasian people. The prevalence of this disease is between 1/2,000 and 1/3,500 live births, and the incidence varies between populations. Although the CF transmembrane conductance regulator gene is expressed in the kidneys, renal involvement is rare. With advances in the treatment of CF, life expectancy has increased, and some previously unobserved disease associations are now seen in patients with CF. It is important to follow patients with CF for possible abnormalities that may accompany CF. In this paper, we present two rare cases of CF accompanied by nephrotic syndrome.

• Clinical and Experimental Pediatrics
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• v.50 no.12
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• pp.1252-1256
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• 2007

Meconium ileus (MI) is the earliest clinical manifestation of cystic fibrosis (CF) in infants. It arises from the intraluminal accumulation of highly viscid, protein-rich meconium, typically present in the terminal ileum as a neonatal intestinal obstruction. Therefore, the clinical symptoms include abdominal distension, bilious vomiting and delayed passage of meconium. CF is caused by mutations in the transmembrane conductance regulator gene (CFTR) located in the long arm of chromosome 7. CF is common in Caucacians, but is a rare disorder in Asian countries, including Korea. We experienced a case of CF combined with MI. Compared with the previous reports of CF in Korea which presented respiratory problems, this is the first case genetically diagnosed as CF with MI during the newborn period.

• Journal of the Korean Academy of Esthetic Dentistry
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• v.13 no.2
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• pp.7-11
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• 2004

The Schwachman-Diamond syndrome is an autosomal recessive syndrome(1/20,000 births), consisting of pancreatic insufficiency, neutopenia, which may be intermittent, neutrophil chemotaxis defects, metaphyseal dysostosis, failure to thrive and short stature. Patients present in infancy with poor growth and grease, foul-smelling stools that are characteristic of malabsorption. These children can be readily differentiated from those with cystic fibrosis by their normal sweat chloride levels, lack of the cystic fibrosis gene, and characteristic metaphyseal lesions. Pathologically, the pancreatic acini are replaced by fat with little fibrosis. The neutropenia may be cyclic. Recurrent pyogenic infections otitis media, pneumonia, dermatitis(fig 1), sepsis are common and a frequent cause of death. In dental examination, these patients had a poor oral hygine and moderate generalized marginal gingivitis, also show delayed primary tooth exfoliation and oral development. This report illustrates a case that pancreatic agenesis 6 yeas-old boy with various esthetic dental problems has been served the esthetic dental restoration of 6 years.

• Proceedings of the Korean Society of Toxicology Conference
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• 2003.05a
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• pp.23-24
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• 2003

Oxidative stress is the hallmark of various inflammatory lung diseases/disorders such as asthma, adult respiratory distress syndrome, idiopathic pulmonary fibrosis, pneumonia, lung transplantation, Chronic Obstructive Pulmonary Disease (COPD), cystic fibrosis, bronchiectasis, lung cancer and various occupational diseases. (omitted)

• Tuberculosis and Respiratory Diseases
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• v.73 no.5
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• pp.249-257
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• 2012

The frequency of diagnosing bronchiectasis is increasing around the world. Cystic fibrosis is the most common inherited cause of bronchiectasis, but there is increasing recognition of significant numbers of patients with bronchiectasis from various causes. With increasing awareness of bronchiectasis, a significant number of research, concerning the causes and treatments, were published over the past few years. Investigation of the underlying cause of bronchiectasis is the most important key to effective management. The purpose of this report is to review the immunological abnormalities that cause bronchiectasis in those that the cystic fibrosis has been excluded, identify the available evidences of current management, and discuss several controversies in the treatment of this disorder.