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Gotowe bibliografie tematyczne / Cystic fibrosis / Artykuły w czasopismach

Artykuły w czasopismach na temat „Cystic fibrosis”

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Autor: Grafiati

Data publikacji: 4 czerwca 2021

Data aktualizacji: 30 lipca 2024

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1

Marin, Angelica-Cristina, Dana-Teodora Anton-Păduraru, Nicoleta-Bianca Cloşcă, Doina Mihăilă i Marin Burlea. "Cystic fibrosis and Helicobacter pylori infection". Romanian Journal of Infectious Diseases 19, nr 2 (30.06.2016): 54–59. http://dx.doi.org/10.37897/rjid.2016.2.2.

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Helicobacter pylori infection is the most frequent bacterian infection and the main cause of duodenal ulcerations. The prevalence in patients with cysic fibrosis is controversial. The paper present generale data about Helicobacter pylori and the particularities of this infection in cystic fibrosis (cystic fibrosis paradox). The authors concluded that although the prevalence of Helicobacter pylori and its role in gastroduodenal disease in cystic fibrosis are controversial, however, its role should not be underestimated.

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2

Jones, Andrew. "Cystic Fibrosis and Non-Cystic Fibrosis Bronchiectasis". Seminars in Respiratory and Critical Care Medicine 36, nr 02 (31.03.2015): 167–68. http://dx.doi.org/10.1055/s-0035-1547317.

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3

&NA;. "Cystic fibrosis and fibrosing colonopathy". Advances in Anatomic Pathology 3, nr 2 (marzec 1996): 112. http://dx.doi.org/10.1097/00125480-199603000-00015.

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4

Smyth, R. L. "Fibrosing colonopathy in cystic fibrosis." Archives of Disease in Childhood 74, nr 5 (1.05.1996): 464–68. http://dx.doi.org/10.1136/adc.74.5.464.

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5

LYON, IAN C. T., i DIANNE R. WEBSTER. "Newborn Screening for Cystic Fibrosis". Pediatrics 87, nr 6 (1.06.1991): 954–55. http://dx.doi.org/10.1542/peds.87.6.954.

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To the Editor.— The report on newborn screening for cystic fibrosis1 illustrates the need for continued evaluation of such programs. The authors state that the identification of cases of cystic fibrosis (CF) by an elevated level of immunoreactive trypsinogen (IRT) in second (follow-up) samples from infants with positive initial screening tests could result in false negatives in 27% of cases of cystic fibrosis without meconium ileus (MI). We have screened 401 122 infants using the method originally reported.2

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6

Grody, Wayne W. "Cystic Fibrosis". Archives of Pathology & Laboratory Medicine 123, nr 11 (1.11.1999): 1041–46. http://dx.doi.org/10.5858/1999-123-1041-cf.

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Abstract Objective.—To review the current status of scientific knowledge and opinion regarding molecular genetic testing of mutations in the CFTR gene for purposes of diagnosis and population carrier screening of cystic fibrosis (CF). Data Sources.—Published research findings on the nature of the CFTR gene, pilot population screening studies in the United States and Europe, and ongoing deliberations of professional and governmental agencies considering implementation of widespread testing. Study Selection.—Findings relevant to the molecular heterogeneity of CFTR mutations and its implications for population carrier screening were considered. Data Extraction.—Information was extracted from studies published by us and others, as made available to recent consensus panels and professional committees. Data Synthesis.—These data were reevaluated in light of recent movements in professional and public policy regarding acceptability and desirability of widespread CF mutation testing. Effects to date of such testing on patient outcomes is reported. Conclusions.—The ability to test for CFTR mutations at the molecular level has already improved the diagnosis of symptomatic patients and expanded the reproductive options of family members of CF patients. The same technology also holds promise of identifying asymptomatic carriers and at-risk couples without family history in the general population so that they too might be offered prenatal diagnosis or other options. However, a number of key questions remain to be worked out before a widespread national screening program can be put into practice. These include the target population to be offered testing (the entire population vs high-risk ethnic groups), the size and nature of the mutation test panel (universal vs ethnic specific), the inclusion or exclusion of CFTR variants that do not cause classical CF, the optimal testing technology, appropriate standards for laboratory quality assurance, and the development of sufficient educational materials and genetic counseling resources for test delivery, reporting, and interpretation. The answers to these questions will be relevant not only to CF testing but also to many other large-scale molecular genetic screening programs being considered in the future.

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7

Wendekier, Camille, i Katheryn Wendekier-Raybuck. "Cystic fibrosis". Nursing 51, nr 6 (czerwiec 2021): 32–38. http://dx.doi.org/10.1097/01.nurse.0000751344.57701.75.

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8

Davis, P. B. "Cystic Fibrosis". Pediatrics in Review 22, nr 8 (1.08.2001): 257–64. http://dx.doi.org/10.1542/pir.22-8-257.

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9

Montgomery, G. S., i M. Howenstine. "Cystic Fibrosis". Pediatrics in Review 30, nr 8 (31.07.2009): 302–10. http://dx.doi.org/10.1542/pir.30-8-302.

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10

Paranjape, S. M., i P. J. Mogayzel. "Cystic Fibrosis". Pediatrics in Review 35, nr 5 (1.05.2014): 194–205. http://dx.doi.org/10.1542/pir.35-5-194.

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11

Radlovic, Nedeljko. "Cystic fibrosis". Srpski arhiv za celokupno lekarstvo 140, nr 3-4 (2012): 244–49. http://dx.doi.org/10.2298/sarh1204244r.

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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.

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12

Dickinson, Kimberly M., i Joseph M. Collaco. "Cystic Fibrosis". Pediatrics in Review 42, nr 2 (luty 2021): 55–67. http://dx.doi.org/10.1542/pir.2019-0212.

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13

Colin, A. A., i M. E. B. Wohl. "Cystic Fibrosis". Pediatrics in Review 15, nr 5 (1.05.1994): 192–200. http://dx.doi.org/10.1542/pir.15-5-192.

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14

Mellis, Craig M. "Cystic fibrosis". Medical Journal of Australia 143, nr 6 (wrzesień 1985): 227–28. http://dx.doi.org/10.5694/j.1326-5377.1985.tb122950.x.

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15

Leitch, AE, i HC Rodgers. "Cystic fibrosis". Journal of the Royal College of Physicians of Edinburgh 43, nr 2 (4.06.2013): 144–50. http://dx.doi.org/10.4997/jrcpe.2013.212.

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16

Orenstein, David M., i A'Delbert Bowen. "CYSTIC FIBROSIS". Radiologic Clinics of North America 31, nr 3 (maj 1993): 617–30. http://dx.doi.org/10.1016/s0033-8389(22)02609-4.

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17

Yashin, S. S., Y. R. Yunusova, N. V. Isakova i Y. V. Serdobolskaya. "CYSTIC FIBROSIS". Современные проблемы науки и образования (Modern Problems of Science and Education), nr 5 2022 (2022): 5. http://dx.doi.org/10.17513/spno.32008.

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18

Shteinberg, Michal, Iram J. Haq, Deepika Polineni i Jane C. Davies. "Cystic fibrosis". Lancet 397, nr 10290 (czerwiec 2021): 2195–211. http://dx.doi.org/10.1016/s0140-6736(20)32542-3.

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19

Paranjape, Shruti M., i Peter J. Mogayzel. "Cystic Fibrosis". Pediatrics In Review 35, nr 5 (1.05.2014): 194–205. http://dx.doi.org/10.1542/pir.35.5.194.

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20

Colin, Andrew A., i Mary Ellen B. Wohl. "Cystic Fibrosis". Pediatrics In Review 15, nr 5 (1.05.1994): 192–200. http://dx.doi.org/10.1542/pir.15.5.192.

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Cystic fibrosis (CF) is an autosomal recessive inherited disorder caused by mutations of both alleles of the CF gene. These mutations result in abnormalities in the production or function of the gene product, a protein known as the cystic fibrosis membrane conductance regulator (CFTR). The CF gene is large (250 000 base pairs) and located on chromosome 7. A deletion of three base pairs that results in the absence of phenylalanine at codon 508 is the most common defect (designated F 508) and accounts for about 70% of the mutant genes in North American populations. Other genotypes observed with some frequency (but <3%) are G542X, G551D, W1282X, W1303K, and R553X. The twelve most common CF gene mutations account for approximately 85% of cases in North America. Mutations other than F508 number more than 200 and account for the remaining cases. Most of these 200-odd mutations are "private," observed only in the affected kindred. Because the CF locus has so many DNA sequence changes associated with disease, precise genetic testing cannot replace clinical criteria for diagnosis, and the sweat test remains an important diagnostic test. The CF gene is expressed in epithelial cells of the pancreas, sweat and salivary glands, intestine, and reproductive and respiratory tracts, particularly in the submucosal glands.

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21

Montgomery, Gregory S., i Michelle Howenstine. "Cystic Fibrosis". Pediatrics In Review 30, nr 8 (1.08.2009): 302–10. http://dx.doi.org/10.1542/pir.30.8.302.

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22

Davis, Pamela B. "Cystic Fibrosis". Pediatrics In Review 22, nr 8 (1.08.2001): 257–64. http://dx.doi.org/10.1542/pir.22.8.257.

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23

Wendekier, Camille, i Katheryn Wendekier-Raybuck. "Cystic fibrosis". Nurse Practitioner 46, nr 9 (wrzesień 2021): 48–55. http://dx.doi.org/10.1097/01.npr.0000769756.82495.f3.

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24

Krauth, Christian, Noushin Jalilvand, Tobias Welte i Reinhard Busse. "Cystic Fibrosis". PharmacoEconomics 21, nr 14 (2003): 1001–24. http://dx.doi.org/10.2165/00019053-200321140-00002.

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25

Cleghorn, Geoffrey, i Ross Shepherd. "Cystic fibrosis". Medical Journal of Australia 144, nr 2 (styczeń 1986): 109–10. http://dx.doi.org/10.5694/j.1326-5377.1986.tb113679.x.

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26

Reis, Francisco J. C., i Neiva Damaceno. "Cystic fibrosis". Jornal de Pediatria 74, nr 7 (15.11.1998): 76–94. http://dx.doi.org/10.2223/jped.489.

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27

Rowe, Steven M., Stacey Miller i Eric J. Sorscher. "Cystic Fibrosis". New England Journal of Medicine 352, nr 19 (12.05.2005): 1992–2001. http://dx.doi.org/10.1056/nejmra043184.

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28

Geddes, Duncan. "Cystic fibrosis". Clinical Medicine 7, nr 5 (1.10.2007): 445–46. http://dx.doi.org/10.7861/clinmedicine.7-5-445.

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29

Freeman, M. V. "Cystic fibrosis." Journal of Ultrasound in Medicine 8, nr 5 (maj 1989): 285–86. http://dx.doi.org/10.7863/jum.1989.8.5.285.

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30

Figarella, Catherine. "Cystic Fibrosis". Journal of Pediatric Gastroenterology and Nutrition 13, nr 4 (listopad 1991): 437. http://dx.doi.org/10.1097/00005176-199111000-00026.

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31

Williams, Rachel, i Helen Barker. "Cystic Fibrosis". InnovAiT: Education and inspiration for general practice 3, nr 12 (19.11.2010): 743–52. http://dx.doi.org/10.1093/innovait/inq072.

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32

Elborn, J. Stuart, i Margaret McCloskey. "Cystic fibrosis". Current Opinion in Infectious Diseases 10, nr 2 (kwiecień 1997): 128–32. http://dx.doi.org/10.1097/00001432-199704000-00011.

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33

Brennan, Amanda L., i Duncan M. Geddes. "Cystic fibrosis". Current Opinion in Infectious Diseases 15, nr 2 (kwiecień 2002): 175–82. http://dx.doi.org/10.1097/00001432-200204000-00013.

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34

LITTLEWOOD, J. M. "Cystic fibrosis". Archives of Disease in Childhood 77, nr 5 (1.11.1997): 463. http://dx.doi.org/10.1136/adc.77.5.463j.

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35

Brennan, Amanda L., i Duncan M. Geddes. "Cystic fibrosis". Current Opinion in Internal Medicine 1, nr 4 (sierpień 2002): 363–70. http://dx.doi.org/10.1097/00132980-200201040-00007.

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36

Wicks, Emma. "Cystic fibrosis". BMJ 334, nr 7606 (14.06.2007): 1270–71. http://dx.doi.org/10.1136/bmj.39188.741944.47.

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37

Davies, Jane C., Eric W. F. W. Alton i Andrew Bush. "Cystic fibrosis". BMJ 335, nr 7632 (13.12.2007): 1255–59. http://dx.doi.org/10.1136/bmj.39391.713229.ad.

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38

Standen, Jen. "Cystic fibrosis". InnovAiT: Education and inspiration for general practice 13, nr 1 (27.11.2019): 39–46. http://dx.doi.org/10.1177/1755738019883322.

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In the UK over 10 000 people live with cystic fibrosis (CF), with 1-in-25 people being carriers of the disease. Multidisciplinary care is provided by tertiary care CF centres, with or without local secondary service shared care agreements. There are still, however, several reasons why CF sufferers or their families present to their GPs. This article aims to provide a brief overview of CF and its management. It also gives the information needed to guide patients about genetic testing and neonatal screening for the disease.

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39

Harris, A. "Cystic Fibrosis". Journal of Medical Genetics 27, nr 2 (1.02.1990): 144. http://dx.doi.org/10.1136/jmg.27.2.144.

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40

Shale, D. J. "Cystic Fibrosis". Journal of Medical Genetics 29, nr 3 (1.03.1992): 216. http://dx.doi.org/10.1136/jmg.29.3.216-b.

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41

Welsh, Michael J., i Alan E. Smith. "Cystic Fibrosis". Scientific American 273, nr 6 (grudzień 1995): 52–59. http://dx.doi.org/10.1038/scientificamerican1295-52.

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42

Taussig, Lynn, i Louis Landau. "Cystic Fibrosis". Seminars in Respiratory and Critical Care Medicine 1, nr 02 (20.03.2008): 167–82. http://dx.doi.org/10.1055/s-2007-1018904.

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43

Drotar, Dennis. "Cystic Fibrosis". Journal of Pediatric Psychology 20, nr 4 (1995): 413–16. http://dx.doi.org/10.1093/jpepsy/20.4.413.

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44

Mearns, M. B. "Cystic fibrosis." Archives of Disease in Childhood 60, nr 3 (1.03.1985): 272–77. http://dx.doi.org/10.1136/adc.60.3.272.

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45

David, T. J. "Cystic fibrosis." Archives of Disease in Childhood 65, nr 1 (1.01.1990): 152–57. http://dx.doi.org/10.1136/adc.65.1.152.

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46

FARRALL, MARTIN, i PETER J. SCAMBLER. "Cystic fibrosis". Nature 338, nr 6210 (marzec 1989): 24. http://dx.doi.org/10.1038/338024c0.

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47

&NA;. "Cystic fibrosis". Inpharma Weekly &NA;, nr 803 (wrzesień 1991): 6. http://dx.doi.org/10.2165/00128413-199108030-00013.

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48

Peckham, Daniel G., i Steve Conway. "Cystic fibrosis". Medicine 32, nr 1 (styczeń 2004): 124–28. http://dx.doi.org/10.1383/medc.32.1.124.28472.

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49

Lewis, Myra J., Eugene H. Lewis, Jean A. Amos i Gregory J. Tsongalis. "Cystic Fibrosis". Pathology Patterns Reviews 120, suppl_1 (1.12.2003): S3—S13. http://dx.doi.org/10.1309/duuvfr11w595v7fe.

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50

Nelson, R. "Cystic Fibrosis". BMJ 310, nr 6984 (8.04.1995): 949. http://dx.doi.org/10.1136/bmj.310.6984.949.

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