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  1. Article ; Online: Inconclusive Diagnosis after Newborn Screening for Cystic Fibrosis.

    Munck, Anne

    International journal of neonatal screening

    2020  Volume 6, Issue 1, Page(s) 19

    Abstract: An unintended consequence of newborn screening for cystic fibrosis (CF) is the identification of infants with a positive screening test but an inconclusive diagnostic testing. These infants are designated as CF transmembrane conductance regulator-related ...

    Abstract An unintended consequence of newborn screening for cystic fibrosis (CF) is the identification of infants with a positive screening test but an inconclusive diagnostic testing. These infants are designated as CF transmembrane conductance regulator-related metabolic syndrome (CRMS) in the US and CF screen-positive, inconclusive diagnosis (CFSPID) in Europe. Recently, experts agreed on a unified international definition of CRMS/CFSPID which will improve our knowledge on the epidemiology and outcomes of these infants and optimize comparisons between cohorts. Many of these children will remain free of symptoms, but a number may develop clinical features suggestive of CFTR-related disorder (CFTR-RD) or CF later in life. Clinicians should to be prepared to identify these infants and communicate with parents about this challenging and stressful situation for both healthcare professionals and families. In this review, we present the recent publications on infants designated as CRMS/CFSPID, including the definition, the incidence across Europe, the assessment of the CFTR protein function, the outcomes with the rates of conversion to a final diagnosis of CF and their management.
    Language English
    Publishing date 2020-03-12
    Publishing country Switzerland
    Document type Journal Article ; Review
    ISSN 2409-515X
    ISSN (online) 2409-515X
    DOI 10.3390/ijns6010019
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  2. Article ; Online: Newborn screening for CF in France: An exemplary national experience.

    Audrézet, M P / Munck, A

    Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

    2020  Volume 27 Suppl 1, Page(s) eS35–eS40

    Abstract: Newborn screening (NBS) for cystic fibrosis (CF) was implemented throughout France since 2002, with a 3-tiered strategy consisting in an immunoreactive trypsinogen (IRT) measurement at day-3, a search for the most common mutations responsible for CF when ...

    Abstract Newborn screening (NBS) for cystic fibrosis (CF) was implemented throughout France since 2002, with a 3-tiered strategy consisting in an immunoreactive trypsinogen (IRT) measurement at day-3, a search for the most common mutations responsible for CF when the IRT value is above the cut-off level, and, if necessary, a safetynet retesting of IRT at day-21. Coordination and follow-up are ensured at the national level and NBS is carried out through a regional organization involving NBS centers, biochemical and molecular genetics laboratories. Sweat testing and comprehensive mutation gene analysis are then performed according to a defined algorithm. Between 2002 and 2014, screening for the 30 most common mutations identified 87% of the alleles and comprehensive mutation gene analysis performed when applicable identified more than 300 additional mutations and resulted in a detection rate of 99.8% of the mutated alleles. Program surveillance ensured at a national level allowed to carry out adaptation of cut-off levels and removal of the p.Arg117His mutation. Thanks to these modifications, the performance of the French NBS program for CF meets the European guideline standards regarding positive predictive values, sensitivity and time to initial visit at the CF center, thus making the strategy effective. © 2020 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.
    MeSH term(s) Algorithms ; Biomarkers/metabolism ; Cystic Fibrosis/diagnosis ; Cystic Fibrosis/genetics ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; France ; Genetic Carrier Screening ; Genetic Counseling ; Genetic Testing ; Health Policy ; Humans ; Infant, Newborn ; Mutation ; Neonatal Screening ; Pancreatitis-Associated Proteins/metabolism ; Sweat/chemistry
    Chemical Substances Biomarkers ; Pancreatitis-Associated Proteins ; Cystic Fibrosis Transmembrane Conductance Regulator (126880-72-6)
    Language English
    Publishing date 2020-03-14
    Publishing country France
    Document type Journal Article
    ZDB-ID 1181947-9
    ISSN 1769-664X ; 0929-693X
    ISSN (online) 1769-664X
    ISSN 0929-693X
    DOI 10.1016/S0929-693X(20)30049-X
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  3. Article ; Online: Axillary involvement in frontal fibrosing alopecia: clinical, dermoscopy and histological features.

    Munck, A / Valente, N / Romiti, R

    Journal of the European Academy of Dermatology and Venereology : JEADV

    2019  Volume 33, Issue 4, Page(s) e160–e171

    MeSH term(s) Alopecia/complications ; Alopecia/diagnostic imaging ; Alopecia/pathology ; Axilla ; Cicatrix/complications ; Cicatrix/diagnostic imaging ; Cicatrix/pathology ; Dermoscopy ; Forehead ; Humans ; Lichen Planus/diagnostic imaging ; Lichen Planus/pathology
    Language English
    Publishing date 2019-02-27
    Publishing country England
    Document type Letter
    ZDB-ID 1128828-0
    ISSN 1468-3083 ; 0926-9959
    ISSN (online) 1468-3083
    ISSN 0926-9959
    DOI 10.1111/jdv.15402
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    Zs.A 3492: Show issues Location:
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    Zs.MO 413: Show issues

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  4. Article ; Online: Cystic fibrosis: evidence for gut inflammation.

    Munck, Anne

    The international journal of biochemistry & cell biology

    2014  Volume 52, Page(s) 180–183

    Abstract: Cystic fibrosis (CF) gut manifestations are predominantly secondary to cystic fibrosis transmembrane regulator protein (CFTR) dysfunction. The CFTR gene is expressed throughout the intestinal tract. Because the intestine is difficult to assess in humans, ...

    Abstract Cystic fibrosis (CF) gut manifestations are predominantly secondary to cystic fibrosis transmembrane regulator protein (CFTR) dysfunction. The CFTR gene is expressed throughout the intestinal tract. Because the intestine is difficult to assess in humans, there exists a lack of data on the underlying mechanisms of intestinal dysfunction. A more tractable approach involves the use of mouse models of CF, created by gene targeting techniques, to describe the consequences of CFTR dysfunction in the intestinal tissues, including mucus accumulation, disturbed motility, small bowel bacterial overgrowth and inflammation with altered innate immune responses, that are likely to be interrelated. We will focus on the latter. Recently, in people with CF, even in the absence of overt gastrointestinal symptoms, chronic intestinal inflammation and abnormal balance of the microbiota have been evidenced. Because chronic gut inflammation may be a driver for systemic inflammation, the prevention and control of intestinal inflammation represents a promising research strategy.
    MeSH term(s) Animals ; Cystic Fibrosis/metabolism ; Cystic Fibrosis/pathology ; Cystic Fibrosis Transmembrane Conductance Regulator/metabolism ; Disease Models, Animal ; Gastroenteritis/metabolism ; Gastroenteritis/pathology ; Humans ; Mice
    Chemical Substances Cystic Fibrosis Transmembrane Conductance Regulator (126880-72-6)
    Language English
    Publishing date 2014-07
    Publishing country Netherlands
    Document type Journal Article ; Review
    ZDB-ID 1228429-4
    ISSN 1878-5875 ; 1357-2725
    ISSN (online) 1878-5875
    ISSN 1357-2725
    DOI 10.1016/j.biocel.2014.02.005
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  5. Article ; Online: Organisation du dépistage néonatal en France.

    Munck, Anne / Gauthereau, Valérie / Czernichow, Paul

    Medecine sciences : M/S

    2021  Volume 37, Issue 5, Page(s) 457–460

    Title translation Organization of newborn screening in France.
    MeSH term(s) Cystic Fibrosis/diagnosis ; France ; Humans ; Infant, Newborn ; Mass Screening/methods ; Neonatal Screening/organization & administration
    Language French
    Publishing date 2021-05-18
    Publishing country France
    Document type Journal Article
    ZDB-ID 632733-3
    ISSN 1958-5381 ; 0767-0974
    ISSN (online) 1958-5381
    ISSN 0767-0974
    DOI 10.1051/medsci/2021063
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  6. Article ; Online: Letter to the editor: Risk of false newborn screening after intra-uterine exposure to ETI.

    De Wachter, E / Davies, J C / Simmonds, N J / Castellani, C / de Winter-de Groot, K M / Munck, A / Proesmans, M / Southern, K W / Barben, J

    Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society

    2023  Volume 23, Issue 1, Page(s) 176–177

    MeSH term(s) Humans ; Infant, Newborn ; Cystic Fibrosis ; Neonatal Screening
    Language English
    Publishing date 2023-07-24
    Publishing country Netherlands
    Document type Letter
    ZDB-ID 2084724-5
    ISSN 1873-5010 ; 1569-1993
    ISSN (online) 1873-5010
    ISSN 1569-1993
    DOI 10.1016/j.jcf.2023.07.003
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    Zs.MO 459: Show issues

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  7. Article: Nutrition et mucoviscidose : de la prise en charge préventive au support nutritionnel

    Munck, Anne

    Nutrition clinique et métabolisme. 2014 Feb., v. 28, no. 1

    2014  

    Abstract: Nutritional status has a strong association with respiratory function and survival. Implementation of the French nationwide newborn screening program since 2002 allows an early preventive nutritional approach and nutritional support if indicated, aiming ... ...

    Abstract Nutritional status has a strong association with respiratory function and survival. Implementation of the French nationwide newborn screening program since 2002 allows an early preventive nutritional approach and nutritional support if indicated, aiming at maintaining a nutritional status similar to healthy peers during the patient's life. This review relies on international recommendations and describes the dietetic approach, pancreatic enzymes and fat-soluble vitamins supplementation and also nutritional support in case of moderate or severe malnutrition.
    Keywords enzymes ; fat soluble vitamins ; lung function ; malnutrition ; neonates ; nutritional status ; nutritional support ; patients ; screening
    Language English
    Dates of publication 2014-02
    Size p. 12-16.
    Publishing place Elsevier SAS
    Document type Article
    ZDB-ID 1131758-9
    ISSN 0985-0562
    ISSN 0985-0562
    DOI 10.1016/j.nupar.2013.10.002
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  8. Article: Cystic fibrosis: Evidence for gut inflammation

    Munck, Anne

    international journal of biochemistry & cell biology. 2014 July, v. 52

    2014  

    Abstract: Cystic fibrosis (CF) gut manifestations are predominantly secondary to cystic fibrosis transmembrane regulator protein (CFTR) dysfunction. The CFTR gene is expressed throughout the intestinal tract. Because the intestine is difficult to assess in humans, ...

    Abstract Cystic fibrosis (CF) gut manifestations are predominantly secondary to cystic fibrosis transmembrane regulator protein (CFTR) dysfunction. The CFTR gene is expressed throughout the intestinal tract. Because the intestine is difficult to assess in humans, there exists a lack of data on the underlying mechanisms of intestinal dysfunction. A more tractable approach involves the use of mouse models of CF, created by gene targeting techniques, to describe the consequences of CFTR dysfunction in the intestinal tissues, including mucus accumulation, disturbed motility, small bowel bacterial overgrowth and inflammation with altered innate immune responses, that are likely to be interrelated. We will focus on the latter. Recently, in people with CF, even in the absence of overt gastrointestinal symptoms, chronic intestinal inflammation and abnormal balance of the microbiota have been evidenced. Because chronic gut inflammation may be a driver for systemic inflammation, the prevention and control of intestinal inflammation represents a promising research strategy.This article is part of a Directed Issue entitled: Cystic Fibrosis: From o-mics to cell biology, physiology, and therapeutic advances.
    Keywords animal models ; cell biology ; cystic fibrosis ; gene targeting ; humans ; inflammation ; innate immunity ; microorganisms ; mucus ; people ; physiology ; regulatory proteins ; small intestine ; stomach ; therapeutics
    Language English
    Dates of publication 2014-07
    Size p. 180-183.
    Publishing place Elsevier Ltd
    Document type Article
    ZDB-ID 1228429-4
    ISSN 1878-5875 ; 1357-2725
    ISSN (online) 1878-5875
    ISSN 1357-2725
    DOI 10.1016/j.biocel.2014.02.005
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  9. Article: Manifestations digestives au cours de la mucoviscidose.

    Munck, A

    Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

    2003  Volume 10 Suppl 2, Page(s) 333s–337s

    Abstract: The prognosis of cystic fibrosis (CF) is strongly linked to the pulmonary status, nevertheless digestive disorders should be taken into account in order to prevent malnutrition which may increase pulmonary surinfections and speed up the deterioration of ... ...

    Title translation Digestive symptoms in cystic fibrosis.
    Abstract The prognosis of cystic fibrosis (CF) is strongly linked to the pulmonary status, nevertheless digestive disorders should be taken into account in order to prevent malnutrition which may increase pulmonary surinfections and speed up the deterioration of the respiratory function. Digestion, gut motility and absorption are the three major functions of the gastrointestinal tract. Functional disorders may involve the whole gut; in addition to pancreatic insufficiency we describe the failure of chloride secretion with dehydration of bowel content. Insufficient knowledge of the pathophysiology stresses the need for further studies to allow development of more rational and effective therapy.
    MeSH term(s) Cystic Fibrosis/complications ; Digestive System Physiological Phenomena ; Exocrine Pancreatic Insufficiency/etiology ; Gastrointestinal Diseases/etiology ; Gastrointestinal Diseases/physiopathology ; Gastrointestinal Motility ; Humans ; Malnutrition/etiology ; Prognosis
    Language French
    Publishing date 2003-09-01
    Publishing country France
    Document type English Abstract ; Journal Article ; Review
    ZDB-ID 1181947-9
    ISSN 1769-664X ; 0929-693X
    ISSN (online) 1769-664X
    ISSN 0929-693X
    DOI 10.1016/s0929-693x(03)90048-0
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  10. Article: Question 3. Quelle démarche diagnostique devant des douleurs abdominales chez le patient atteint de mucoviscidose?

    Munck, A

    Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

    2003  Volume 10 Suppl 3, Page(s) 453s–458s

    Title translation Question 3. What diagnostic procedures prior to abdominal pain in children with cystic fibrosis?.
    MeSH term(s) Abdominal Pain/etiology ; Acute Disease ; Child ; Chronic Disease ; Cystic Fibrosis/complications ; Diagnosis, Differential ; Gastrointestinal Diseases/complications ; Gastrointestinal Diseases/etiology ; Humans ; Syndrome
    Language French
    Publishing date 2003-09-01
    Publishing country France
    Document type Journal Article ; Review
    ZDB-ID 1181947-9
    ISSN 1769-664X ; 0929-693X
    ISSN (online) 1769-664X
    ISSN 0929-693X
    DOI 10.1016/s0929-693x(03)90010-8
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