scholarly journals Genetic Examination of Children Suffering from Cystic Fibrosis

2005 ◽  
Vol 5 (1) ◽  
pp. 69-71 ◽  
Author(s):  
Ediba Saračević ◽  
Amira Redžić
Keyword(s):  
Cystic Fibrosis ◽  
Dna Sequences ◽  
Medical Center ◽  
Membrane Conductance ◽  
Sweat Glands ◽  
Age Group ◽  
Genetic Examination ◽  
Cftr Protein ◽  
Group 3 ◽  
Pcr Method

CFTR protein (cystic fibrosis trans membrane conductance regulator) is expressed in multiple epithelial tissues, including upper and lower respiratory tracts, pancreas, sweat glands and gastrointestinal tract. More than 800 mutations and 100 polymorphic variants of DNA sequences were identified in patients with CF (Cystic fibrosis) and CFTR- diseases. In this study, genetic CFTR analysis of the children suffering from chronic lung disease (cystic fibrosis) is presented. They are treated and regularly controlled at the Pediatric hospital Sarajevo. CFTR analysis was done in 9 cases, 4 boys (44.4%) and 5 girls (55.55%). There are 3 children (33.3%) in the age group 1 to 3 years, 1 child (11.1%) in the age group 3 to 6 years, 3 children (33.3%) in the age group 6 to 9 years and 2 children (22.2%) in the age group 9 to 12 years. Genetic analysis was conducted at the Medical center for molecular biology School of Medicine, Ljubljana. PCR method with PAGE and direct sequestration on ABI PRISM 31 was applied. The majority of children (7 children, i.e. 7777%) had CFTR mutation Δ F 508 whilst one child had G542X mutation and one child R1174 mutation. The purpose of this study is to emphasize the need for CFTR gene identification in the institutes of our country.

scholarly journals Cystic Fibrosis: Improving quality of life

2021 ◽  
Vol 8 (2) ◽  
pp. 91-96
Author(s):  
Sunil Chaudhry
Keyword(s):  
Quality Of Life ◽  
Cystic Fibrosis ◽  
Sweat Glands ◽  
Common Mutation ◽  
Close Monitoring ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Estimate Frequency ◽  
Cftr Protein

Cystic Fibrosis (CF) or Mucoviscidosis is an inherited condition. In cystic fibrosis transmembrane conductance regulator (CFTR) protein does not functions properly i.e regulation of fluids and salts outside the cells. Cystic fibrosis affects exocrine glands eg., the mucus-secreting and sweat glands in the respiratory and digestive systems. The frequency of common mutation F508del (deletion of phenylalanine residue at position 508) in children is between 19% and 34%. The estimate frequency of CF as 1:10,000 to 1:40,000 in children. There is no cure for cystic fibrosis, but treatment can reduce symptoms and complications to improve quality of life. Close monitoring and early, aggressive intervention is recommended to slow the progression of CF, which can lead to possible longer life.

scholarly journals Cystic fibrosis

2012 ◽  
Vol 140 (3-4) ◽  
pp. 244-249 ◽  
Author(s):  
Nedeljko Radlovic
Keyword(s):  
Cystic Fibrosis ◽  
Respiratory Infections ◽  
Chloride Concentration ◽  
Sweat Glands ◽  
Homozygous Mutation ◽  
Healthcare Provision ◽  
Disease Manifestation ◽  
Cftr Protein ◽  
High Level

Cystic fibrosis (CF) is a multisystemic autosomal recessive disease caused by a defect in the expression of CFTR protein, i.e. chloride channel present in the apical membrane of respiratory, digestive, reproductive and sweat glands epithelium. It primarily occurs in the Caucasians, while being considerably or exceptionally rare in persons of other races. Absence, deficit or structural and functional abnormalities of CFTR protein lead to mucosal hyperconcentration in the respiratory, digestive and reproductive systems and malabsorption of chloride and sodium in the sweat glands. Thus, the clinical features of patients? with CF are predominated by respiratory, digestive and reproductive disorders, as well as the tendency to dehydration in the condition of increased sweating. Beside genotype variations, the degree of disease manifestation is also essentially influenced by various exogenous factors, such as the frequency and severity of respiratory infections, the level of aero-pollution, quality of immunoprophylaxis, patients? nutritional condition and other. Chloride concentration of over 60 mmol/L in sweat, a high level of immunoreactive chymotrypsinogen in blood and the verification of homozygous mutation of CFTR gene are the basic methods in the diagnostics of the disease. CF belongs to the group of severe and complex chronic diseases, and therefore requires multidisciplinary therapeutic approach. Owing to the improvement of healthcare provision, most patients with CF now survive into adulthood. In addition, their quality of life is also considerably improved.

Freeze-Fracture Examination of Tight Junctions of Human Eccrine Sweat Glands

1980 ◽  
Vol 38 ◽  
pp. 634-635
Author(s):  
J. V. Briggman ◽  
J. Bigelow ◽  
H. Bank ◽  
S. S. Spicer
Keyword(s):  
Cystic Fibrosis ◽  
Freeze Fracture ◽  
Sweat Glands ◽  
Hypertonic Solution ◽  
Dark Cells ◽  
Clear Cells ◽  
Junctional Complexes ◽  
Secretory Coil ◽  
Eccrine Sweat Glands ◽  
Eccrine Sweat

The prevalence of strands shown by freeze-fracture in the zonula occludens of junctional complexes is thought to correspond closely with the transepi-thelial electrical resistance and with the tightness of the junction and its obstruction to paracellular flow.1 The complexity of the network of junc¬tional complex strands does not appear invariably related to the degree of tightness of the junction, however, as rabbit ileal junctions have a complex network of strands and are permeable to lanthanum. In human eccrine sweat glands the extent of paracellular relative to transcellular flow remains unknown, both for secretion of the isotonic precursor fluid by the coil and for resorption of a hypertonic solution by the duct. The studies reported here undertook, therefore, to determine with the freeze-fracture technique the complexity of the network of ridges in the junctional complexes between cells in the secretory coil and the sweat ducts. Glands from a patient with cystic fibrosis were also examined because an alteration in junctional strands could underlie the decreased Na+ resorption by sweat ducts in this disease. Freeze-fracture replicas were prepared by standard procedures on isolated coil and duct segments of human sweat glands. Junctional complexes between clear cells, between dark cells and between clear and dark cells on the main lumen, and between clear cells on intercellular canaliculi of the coil con¬tained abundant anastomosing closely spaced strands averaging 6.4 + 0.7 (mean + SE) and 9.0 +0.5 (Fig. 1) per complex, respectively. Thus, the junctions in the intercellular canaliculi of the coil appeared comparable in complexity to those of tight epithlia. Occasional junctions exhibited, in addition, 2 to 5 widely spaced anastomosing strands in a very close network basal to the compact network. The fewer junctional complexes observed thus far between the superficial duct cells consisted on the average of 6 strands arranged in a close network and 1 to 4 underlying strands that lay widely separated from one another (Fig. 2). The duct epitelium would, thus, be judged slightly more "leaky" than the coil. Infrequent junctional complexes observed to date in the secretory coil segment of a cystic fibrosis specimen disclosed rela¬tively few closely crowded strands.

PRO–CF–MED, Clinical Proof of concept for a RNA–targeting Oligonucleotide for a Cystic fibrosis–F508del MEDication, Horizon2020

Impact ◽  
2018 ◽  
Vol 2018 (3) ◽  
pp. 52-54
Author(s):  
Nicolas Lamontagne
Keyword(s):  
Cystic Fibrosis ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Rna Targeting ◽  
Threatening Condition ◽  
Life Threatening ◽  
Cftr Protein ◽  
Disease Modifying ◽  
Cystic Fibrosis Transmembrane ◽  
Specific Challenge

Cystic fibrosis (CF) is a progressive life–shortening disease caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene leading to a dysfunctional CFTR protein. The disease affects over 70,000 patients worldwide and while many mutations are known, the F508del mutation affects 90% of all patients. The absence of CFTR in the plasma membrane leads to a dramatic decrease in chloride efflux, resulting in viscous mucus that causes severe symptoms in vital organs like the lungs and intestines. For CF patients that suffer from the life threatening F508del mutation only palliative treatment exist. PRO–CF–MED addresses the specific challenge of this call by introducing the first disease modifying medication for the treatment of the CF patients with F508del mutation. The PRO–CF–MED project has been designed to assess the potential clinical efficacy of QR–010, an innovative disease modifying oligonucleotide–based treatment for F508del patients. Partners within PRO–CF–MED have generated very promising preclinical evidence for QR–010 which allows for further clinical assessment of QR–010 in clinical trials. PRO–CF–MED will enable the fast translation of QR–010 towards clinical practice and market authorisation. PRO–CF–MED has the potential to transform this life–threatening condition into a manageable one.

scholarly journals POS1309 PREVALENCE AND CORRELATES OF UNDERWEIGHT, OVERWEIGHT AND OBESITY AMONG PATIENTS WITH JUVENILE IDIOPATHIC ARTHRITIS (JIA): EVIDENCE FROM THE NATIONAL PAEDIATRIC RHEUMATOLOGIC DATABASE (NPRD)

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 936.2-937
Author(s):  
F. Milatz ◽  
J. Klotsche ◽  
M. Niewerth ◽  
J. Hörstermann ◽  
D. Windschall ◽  
...  
Keyword(s):  
Physical Activity ◽  
Juvenile Idiopathic Arthritis ◽  
General Population ◽  
Children And Adolescents ◽  
Treatment Response ◽  
Weight Status ◽  
Overweight And Obesity ◽  
Age Group ◽  
Group 3 ◽  
Obesity In Children

Background:In patients with JIA, growth impairment and variance in body composition are well-known long-term complications that may be associated with prolonged drug therapy (e.g. glucocorticoids) as well as impaired physical and psychosocial well-being. An increased accumulation of body fat represents a significant risk factor for metabolic abnormalities and a modifiable variable for a number of comorbidities. Recently, evidence has emerged in favour of the potential negative influence of overweight on the course of the disease and treatment response [1].Objectives:The study aimed a) to estimate the prevalence of underweight, overweight and obesity in children and adolescents with JIA compared to the general population, and b) to investigate correlates of patients’ weight status.Methods:A cross-sectional analysis of physicians’ recorded body weights and heights of patients with JIA enrolled in the NPRD in the year 2019 was performed. Underweight (BMI <10th), overweight (BMI >90th) and obesity (BMI >97th) were defined according to age- and sex-specific percentiles used in the German reference system. For comparison with data from the general population [2], sex- and age-matched pairs of 3-17-year-old patients and controls were generated. A multinomial logistic regression analysis was performed to examine the association between weight status and patients’ clinical and self-reported outcomes.Results:In total, data from 6.515 children and adolescents with JIA (age 11.2 ± 4.1 years, disease duration 4.9 ± 3.8 years, 67% girls, 40% persistent oligoarthritis) were included. Of these, 3.334 (age 5.9 ± 2.1 years, 52.5% girls) could be considered for matched-pair analysis. Compared with the general population, patients underweight, overweight and obesity rates were 10.6% (vs. 8.1%), 8.8% (vs. 8.5%) and 6.1% (vs. 5.7%), respectively. No significant sex differences were found in either group. Largest difference in prevalence was registered for underweight, specifically in the age group 3-6 years (12.9% patients vs. 5.9% controls). Similar to the general population, higher rates of overweight were observed in adolescent patients than in affected children (19.1% age group 11-13 vs. 8.4% age group 3-6). While the highest underweight prevalence was registered in patients with RF+ polyarthritis (16%), patients with Enthesitis-related arthritis (22%), psoriatic arthritis (21%) and systemic JIA (20%) showed the highest overweight rates (including obesity). Younger age (OR = 0.51, 95% CI = 0.31-0.83), more frequent physical activity (OR = 0.92, 95% CI = 0.85-0.99) and high parental vocational education (OR = 0.39, 95% CI = 0.18-0.80) were independently associated with a lower likelihood of being overweight/obese.Conclusion:The overall prevalence of underweight, overweight and obesity in children and adolescents with JIA is comparable to that found in the general population. Behavioural health promotion, including regular physical activity, as part of the treatment strategy in JIA should preventively already begin at preschool age and necessarily be made accessible to patients of all educational levels.References:[1]Giani T et al. The influence of overweight and obesity on treatment response in juvenile idiopathic arthritis. Front Pharmacol 2019;10:637.[2]Schienkiewitz A et al. BMI among children and adolescents: prevalences and distribution considering underweight and extreme obesity. Bundesgesundheitsbl 2019;62:1225–1234.Acknowledgements:The National Paediatric Rheumatological Database has been funded by AbbVie, Chugai, Novartis and GSK.Disclosure of Interests:Florian Milatz: None declared, Jens Klotsche: None declared, Martina Niewerth: None declared, Jana Hörstermann: None declared, Daniel Windschall: None declared, Frank Weller-Heinemann Speakers bureau: Pfizer, AbbVie, SOBI, Roche and Novartis., Frank Dressler: None declared, Rainer Berendes: None declared, Johannes-Peter Haas: None declared, Gerd Horneff: None declared, Kirsten Minden Speakers bureau: Pfizer, AbbVie, Consultant of: Novartis

Preschoolers’ imitation of sentential complement sentences: Does the nature of the matrix clause matter?

2021 ◽  
pp. 014272372110242
Author(s):  
Ian Morton ◽  
C. Melanie Schuele
Keyword(s):  
Language Development ◽  
Age Group ◽  
Matrix Clause ◽  
Developmental Progression ◽  
Main Effect ◽  
Dependent Variables ◽  
The Matrix ◽  
Group 3 ◽  
Sentence Imitation ◽  
Experimental Findings

Preschoolers’ earliest productions of sentential complement sentences have matrix clauses that are limited in form. Diessel proposed that matrix clauses in these early productions are propositionally empty fixed phrases that lack semantic and syntactic integration with the clausal complement. By 4 years of age, however, preschoolers produce sentential complement sentences with matrix clauses that are more varied. Diessel proposed that the matrix clauses in these later productions semantically and syntactically embed the complement clause. We refer to these matrix clauses as formulaic and true, respectively. Diessel’s hypothesis about the development of sentential complement sentences was based on an analysis of spontaneous language. The purpose of this study was to evaluate Diessel’s hypothesis with an experimental sentence imitation task wherein stimuli varied in the nature of the matrix clause. Thirty children with typical language development participated; 10 children in each age group (3-, 4-, and 5-year-olds) imitated 50 sentential complement sentences that included either a true or a formulaic matrix clause; the structure of the dependent clauses did not vary. Dependent variables were percent sentence imitation and percent matrix clause imitation. There was a significant main effect for matrix clause type on imitation of sentences and matrix clauses. There was also a significant main effect for age on imitation of sentences and matrix clauses. Significant matrix clause type-by-age interactions were such that percent sentence imitation and percent matrix clause imitation varied by age. Three- and 4-year-olds were less proficient than 5-year-olds on imitation of sentences with true matrix clauses and on imitations of true matrix clauses. Only 3- and 4-year-olds were less proficient imitating true matrix clauses than formulaic matrix clauses. Experimental findings support Diessel’s hypothesis that there is a developmental progression in the nature of preschoolers’ production of sentential complement sentences.

scholarly journals The effects of nano-curcumin as a nutritional strategy on clinical and inflammatory factors in children with cystic fibrosis: the study protocol for a randomized controlled trial

Trials ◽  
2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Saeedeh Talebi ◽  
Mahammad Safarian ◽  
Mahmood Reza Jaafari ◽  
Seyed Javad Sayedi ◽  
Zahra Abbasi ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Controlled Trial ◽  
Genetic Disorder ◽  
The Body ◽  
Inflammatory Factors ◽  
Secondary Outcome ◽  
Nasopharyngeal Swab ◽  
Nutritional Strategy ◽  
Cftr Protein ◽  
The Impact

Abstract Background Cystic fibrosis (CF) is a genetic disorder, which is caused by the CFTR protein defects. Along with CFTR dysfunction, inflammation plays a key role in the disease outcomes. Inflammation may develop due to the internal dysfunction of the CFTR protein or external factors. Curcumin affects the CFTR protein function primarily as a corrector and potentiator and secondary as an anti-inflammatory and antimicrobial agent. The present study aims to assess the impact of nano-curcumin on clinical and inflammatory markers in children with CF. Methods This prospective, double blind control trial will be conducted at the Akbar Children’s Hospital in Mashhad, Iran. Children with CF will be enrolled based on the eligibility criteria. Placebo and curcumin with the maximum dose of 80 mg considering the body surface of the patients will be administrated for 3 months. The primary outcome is to evaluate inflammation based on serum interleukin-6, interleukin-10, and hs-CRP, stool calprotectin, and neutrophil count of nasopharyngeal swab. The secondary outcome involved clinical assessment via spirometry, anthropometrics, and quality of life. They will be assessed before and after 3 months. Discussion Due to the multifarious effects of curcumin on CF disease, it could be proposed as a nutritional strategy in the treatment of cystic fibrosis. Trial registration Iranian Registry of Clinical Trials IRCT20200705048018N1. Registered on July 10, 2020.

scholarly journals National Surveillance of Injury in the Republic of Korea: Increased Injury Vulnerability in the Late Middle Age

2021 ◽  
Vol 18 (3) ◽  
pp. 1210
Author(s):  
Hansol Chang ◽  
Ji Young Min ◽  
Dajeong Yoo ◽  
Se Uk Lee ◽  
Sung Yeon Hwang ◽  
...  
Keyword(s):  
Middle Age ◽  
Age Groups ◽  
Admission Rate ◽  
Age Group ◽  
National Surveillance ◽  
Early Prevention ◽  
Group 4 ◽  
Group 3 ◽  
Prevention Methods ◽  
Injury Outcomes

Surveillance of injury patterns and comparisons among different age groups help develop a better understanding of recent injury trends and early prevention. This study conducted a national surveillance of injury by age group. Data were collected retrospectively from Emergency Department-Based Injury In-Depth Surveillance (EDIIS) in South Korea, between January 2011 and December 2017. Patients were divided into the following four groups by age: Group 1–18 to 34 years, Group 2–35 to 49 years, Group 3–50 to 64 years, and Group 4—≥65 years. A total of 1,221,746 patients were included in the study. Findings revealed that, each year, the injury rate increased in the population aged ≥65 years. The place and mechanism of injury in Group 3 were similar to those in younger age groups, while injury outcomes and injured body parts were similar to those in Group 4. Further, hospital admission rate, ICU admission rate, hospital death, traumatic brain injury, and injury severity increased with an increase in age. In our study, each age group showed diverse characteristics pertaining to the mechanism, place, time, and outcomes of injuries. Interestingly, Group 3, which represented the late middle age, exhibited increased vulnerability to injury, and emerged as a gray zone between the young and old age groups. Therefore, different injury prevention methods are needed for each age group. Specifically, early prevention methods need to be implemented from the late middle age to improve the old age group’s injury outcomes.

scholarly journals Characterization of Wild-Type and ΔF508 Cystic Fibrosis Transmembrane Regulator in Human Respiratory Epithelia

2005 ◽  
Vol 16 (5) ◽  
pp. 2154-2167 ◽  
Author(s):  
Silvia M. Kreda ◽  
Marcus Mall ◽  
April Mengos ◽  
Lori Rochelle ◽  
James Yankaskas ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Normal Subjects ◽  
Cell Types ◽  
Cystic Fibrosis Transmembrane Regulator ◽  
Ciliated Cells ◽  
Metabolic Fate ◽  
Specific Expression ◽  
Δf508 Cftr ◽  
Cftr Protein ◽  
Cystic Fibrosis Transmembrane

Previous studies in native tissues have produced conflicting data on the localization and metabolic fate of WT and ΔF508 cystic fibrosis transmembrane regulator (CFTR) in the lung. Combining immunocytochemical and biochemical studies utilizing new high-affinity CFTR mAbs with ion transport assays, we examined both 1) the cell type and region specific expression of CFTR in normal airways and 2) the metabolic fate of ΔF508 CFTR and associated ERM proteins in the cystic fibrosis lung. Studies of lungs from a large number of normal subjects revealed that WT CFTR protein localized to the apical membrane of ciliated cells within the superficial epithelium and gland ducts. In contrast, other cell types in the superficial, gland acinar, and alveolar epithelia expressed little WT CFTR protein. No ΔF508 CFTR mature protein or function could be detected in airway specimens freshly excised from a large number of ΔF508 homozygous subjects, despite an intact ERM complex. In sum, our data demonstrate that WT CFTR is predominantly expressed in ciliated cells, and ΔF508 CFTR pathogenesis in native tissues, like heterologous cells, reflects loss of normal protein processing.

Sign in / Sign up

Export Citation Format

Share Document