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Latest Publication and Research on Cystic Fibrosis

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Gastroenterol Res Pract    

Clostridium difficile Infection and Proton Pump Inhibitor Use in Hospitalized Pediatric Cystic Fibrosis Patients.

Pohl JF, Patel R, Zobell JT, Lin E, Korgenski EK, Crowell K, Mackay MW, Richman A, Larsen C, Chatfield BA

Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Primary Children's Medical Center, University of Utah School of Medicine, Salt Lake City, UT 84113-1103, USA.

Children with cystic fibrosis (CF) often take proton pump inhibitors (PPIs), which helps improve efficacy of fat absorption with pancreatic enzyme rep... Read More

Source: PubMed

  2011 Dec 5  

VAMP8 is a vesicle SNARE that regulates mucin secretion in airway goblet cells.

Jones LC, Moussa L, Fulcher LM, Zhu Y, Hudson EJ, O'Neal WK, Randell SH, Lazarowski ER, Boucher RC, Kreda SM

University of North Carolina;

Mucin secretion is an innate defence mechanism, which is noxiously upregulated in obstructive lung diseases (e.g., COPD, cystic fibrosis, asthma). Mu... Read More

Source: PubMed

Exp Clin Transplant    

Bilateral lung transplant for bronchiectasis in asymmetric thorax: a case report.

Wang Y, Chen J, Wei D, Zheng M, Zhang J, Wu B

From the Wuxi People's Hospital, Department of Thoracic Transplant, Wuxi, China.

Patients with suppurative lung diseases such as bronchiectasis and cystic fibrosis can be treated surgically, which leads to an asymmetric thorax, mak... Read More

Source: PubMed

Exp Clin Transplant    

Bilateral lung transplant for bronchiectasis in asymmetric thorax: a case report.

Wang Y, Chen J, Wei D, Zheng M, Zhang J, Wu B

From the Wuxi People's Hospital, Department of Thoracic Transplant, Wuxi, China.

Patients with suppurative lung diseases such as bronchiectasis and cystic fibrosis can be treated surgically, which leads to an asymmetric thorax, mak... Read More

Source: PubMed

  2011 Dec 3  

Cytokeratin-18 and hyaluronic acid levels predict liver fibrosis in children with non-alcoholic fatty liver disease.

Lebensztejn DM, Wierzbicka A, Socha P, Pronicki M, Skiba E, Werpachowska I, Kaczmarski M

Department of Pediatrics, Gastroenterology and Allergology, Medical University of Bialystok, Bialystok, Poland.

Objectives: There is a need to replace liver biopsy with non-invasive markers that predict the degree of liver fibrosis in fatty liver disease related... Read More

Source: PubMed

  2011 Dec 3  

Cytokeratin-18 and hyaluronic acid levels predict liver fibrosis in children with non-alcoholic fatty liver disease.

Lebensztejn DM, Wierzbicka A, Socha P, Pronicki M, Skiba E, Werpachowska I, Kaczmarski M

Department of Pediatrics, Gastroenterology and Allergology, Medical University of Bialystok, Bialystok, Poland.

Objectives: There is a need to replace liver biopsy with non-invasive markers that predict the degree of liver fibrosis in fatty liver disease related... Read More

Source: PubMed

  2011 Dec 2  

Reduced levels of active GLP-1 in patients with cystic fibrosis with and without diabetes mellitus.

Hillman M, Eriksson L, Mared L, Helgesson K, Landin-Olsson M

Department of Clinical Sciences, Biomedical Center, Lund University, Sweden.

Glucagon like peptide 1 (GLP-1) is an incretin hormone released as a bioactive peptide from intestinal L-cells in response to eating. It acts on targe... Read More

Source: PubMed

  2011 Dec 2  

Reduced levels of active GLP-1 in patients with cystic fibrosis with and without diabetes mellitus.

Hillman M, Eriksson L, Mared L, Helgesson K, Landin-Olsson M

Department of Clinical Sciences, Biomedical Center, Lund University, Sweden.

Glucagon like peptide 1 (GLP-1) is an incretin hormone released as a bioactive peptide from intestinal L-cells in response to eating. It acts on targe... Read More

Source: PubMed

  2011 Dec 2  

CFTR: folding, misfolding and correcting the ?F508 conformational defect.

Lukacs GL, Verkman AS

Department of Physiology and GRASP, McGill University, Montréal, Quebec H3E 1Y6, Canada.

Cystic fibrosis (CF), the most common lethal genetic disease in the Caucasian population, is caused by loss-of-function mutations of the CF transmembr... Read More

Source: PubMed

  2011 Dec 2  

CFTR: folding, misfolding and correcting the ?F508 conformational defect.

Lukacs GL, Verkman AS

Department of Physiology and GRASP, McGill University, Montréal, Quebec H3E 1Y6, Canada.

Cystic fibrosis (CF), the most common lethal genetic disease in the Caucasian population, is caused by loss-of-function mutations of the CF transmembr... Read More

Source: PubMed

Gastroenterol Res Pract    

Clostridium difficile Infection and Proton Pump Inhibitor Use in Hospitalized Pediatric Cystic Fibrosis Patients.

Pohl JF, Patel R, Zobell JT, Lin E, Korgenski EK, Crowell K, Mackay MW, Richman A, Larsen C, Chatfield BA

Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Primary Children's Medical Center, University of Utah School of Medicine, Salt Lake City, UT 84113-1103, USA.

Children with cystic fibrosis (CF) often take proton pump inhibitors (PPIs), which helps improve efficacy of fat absorption with pancreatic enzyme rep... Read More

Source: PubMed

  2011 Dec 5  

VAMP8 is a vesicle SNARE that regulates mucin secretion in airway goblet cells.

Jones LC, Moussa L, Fulcher LM, Zhu Y, Hudson EJ, O'Neal WK, Randell SH, Lazarowski ER, Boucher RC, Kreda SM

University of North Carolina;

Mucin secretion is an innate defence mechanism, which is noxiously upregulated in obstructive lung diseases (e.g., COPD, cystic fibrosis, asthma). Mu... Read More

Source: PubMed

  2011 Dec 2  

Measuring Children's Decision-Making Involvement Regarding Chronic Illness Management.

Miller VA, Harris D

Department of Anesthesiology and Critical Care Medicine, The Children's Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania and Center for the Integration of Genetic Healthcare Technologies, Perelman School of Medicine at the University of Pennsylvania.

OBJECTIVES: To develop a measure of decision-making involvement in children and adolescents with cystic fibrosis, diabetes, and asthma. METHODS: Pare... Read More

Source: PubMed

  2011 Dec 1  

Antimicrobial activity of fosfomycin and tobramycin in combination against cystic fibrosis pathogens under aerobic and anaerobic conditions.

McCaughey G, McKevitt M, Elborn JS, Tunney MM

CF and Airways Microbiology Research Group, Queen's University Belfast, United Kingdom.

BACKGROUND: There is a need for new antibiotics or combination of antibiotics that possess activity against increasingly resistant cystic fibrosis (CF... Read More

Source: PubMed

  2011 Dec 2  

[Expanded newborn screening in the Region of Murcia, Spain. Three-years experience.]

Juan-Fita MJ, Egea-Mellado JM, González-Gallego I, Moya-Quiles MR, Fernández-Sánchez A

Sección de Metabolopatías, Centro de Bioquímica y Genética Clínica, Hospital Universitario Virgen de la Arrixaca, Murcia, Espańa.

BACKGROUND AND OBJECTIVE: The early detection of inborn errors of metabolism by mass spectrometry allows expanding the traditional neonatal screening ... Read More

Source: PubMed

  2011 Nov 28  

Corrector-mediated rescue of misprocessed CFTR mutants can be reduced by the P-glycoprotein drug pump.

Loo TW, Bartlett MC, Shi L, Clarke DM

Department of Medicine, University of Toronto, Toronto, Ontario M5S 1A8, Canada; Department of Biochemistry, University of Toronto, Toronto, Ontario M5S 1A8, Canada.

The most common cause of cystic fibrosis is deletion of Phe508 in the first nucleotide-binding domain (NBD) of the CFTR chloride channel, which inhibi... Read More

Source: PubMed

  2011 Nov 28  

Corrector-mediated rescue of misprocessed CFTR mutants can be reduced by the P-glycoprotein drug pump.

Loo TW, Bartlett MC, Shi L, Clarke DM

Department of Medicine, University of Toronto, Toronto, Ontario M5S 1A8, Canada; Department of Biochemistry, University of Toronto, Toronto, Ontario M5S 1A8, Canada.

The most common cause of cystic fibrosis is deletion of Phe508 in the first nucleotide-binding domain (NBD) of the CFTR chloride channel, which inhibi... Read More

Source: PubMed

  2011 Dec 2  

Measuring Children's Decision-Making Involvement Regarding Chronic Illness Management.

Miller VA, Harris D

Department of Anesthesiology and Critical Care Medicine, The Children's Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania and Center for the Integration of Genetic Healthcare Technologies, Perelman School of Medicine at the University of Pennsylvania.

OBJECTIVES: To develop a measure of decision-making involvement in children and adolescents with cystic fibrosis, diabetes, and asthma. METHODS: Pare... Read More

Source: PubMed

  2011 Dec 1  

Antimicrobial activity of fosfomycin and tobramycin in combination against cystic fibrosis pathogens under aerobic and anaerobic conditions.

McCaughey G, McKevitt M, Elborn JS, Tunney MM

CF and Airways Microbiology Research Group, Queen's University Belfast, United Kingdom.

BACKGROUND: There is a need for new antibiotics or combination of antibiotics that possess activity against increasingly resistant cystic fibrosis (CF... Read More

Source: PubMed

  2011 Dec 2  

[Expanded newborn screening in the Region of Murcia, Spain. Three-years experience.]

Juan-Fita MJ, Egea-Mellado JM, González-Gallego I, Moya-Quiles MR, Fernández-Sánchez A

Sección de Metabolopatías, Centro de Bioquímica y Genética Clínica, Hospital Universitario Virgen de la Arrixaca, Murcia, Espańa.

BACKGROUND AND OBJECTIVE: The early detection of inborn errors of metabolism by mass spectrometry allows expanding the traditional neonatal screening ... Read More

Source: PubMed


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Posted by:  prema  Posted on: 12/28/2009
As the above article mentions, cystic fibrosis is an autosomal recessive disease and testing for carrier status has been available, but screening policies differ widely. An interesting screening study between neighboring towns in Italy was reported recently. This study reports on a natural experiment which arose in north eastern Italy when Veneto adopted a conservative carrier testing policy while next door in the Padua area, much wider testing was carried out. In both regions babies are also tested for CF at birth, and in the Padua area there were half as many as in the Veneto area. In other words, couples do make reproductive choices based on their carrier status.
http://jama.ama-assn.org



Posted by:  prema  Posted on: 12/20/2009
Cystic fibrosis in India is rare. Also there is less awareness among medical staff. Apparently frequency of common mutation F508del in Indian children is between 19% and 34%. The cystic fibrosis wordlwide is willing to fund projects for two years in India. There is an appeal on thier site - just google cystic fibrosis wordlwide india and see the response.




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