keyword
https://read.qxmd.com/read/38524055/a-unique-mutation-in-the-cystic-fibrosis-transmembrane-conductance-regulator-cftr-gene-causing-cystic-fibrosis-in-a-pakistani-child-a-case-highlighting-the-need-for-more-awareness
#1
Sinan Yavuz, Basil Elnazir, Saista Amin, Amal Sherif, Safiya Saif, Nader Francis
Cystic fibrosis (CF) is a recessively inherited disease most commonly seen in Caucasians. The mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are responsible for the condition, and to date, more than 2000 mutations have been published in the literature. The most common mutation worldwide is F508del. Here, we reported a five-year-old child who presented to the clinic with a chronic cough. Her newborn screening for CF was negative, including 139 mutation panels done in India. The sweat chloride test was positive, and CF gene sequencing was reported as c...
February 2024: Curēus
https://read.qxmd.com/read/38477633/clinical-outcomes-at-9-10-years-of-age-in-children-born-with-cystic-fibrosis-transmembrane-conductance-regulator-related-metabolic-syndrome
#2
JOURNAL ARTICLE
Brian J Carroll, Joshua S Ostrenga, Aliza K Fink, Nicholas J Antos, Elizabeth A Cromwell, Clement L Ren
BACKGROUND AND OBJECTIVES: There are limited data on cystic fibrosis (CF) transmembrane conductance regulator-related metabolic syndrome (CRMS) outcomes beyond infancy. The goal of this study was to analyze outcomes of infants with CRMS up to the age of 9-10 years using the CF Foundation Patient Registry (CFFPR). METHODS: We analyzed data from the CFFPR for individuals with CF and CRMS born between 2010 and 2020. We classified all patients based on the clinical diagnosis reported by the CF care center and the diagnosis using CFF guideline definitions for CF and CRMS, classifying children into groups based on agreement between clinical report and guideline criteria...
March 13, 2024: Pediatric Pulmonology
https://read.qxmd.com/read/38453427/what-is-cystic-fibrosis-screen-positive-inconclusive-diagnosis-and-what-is-it-not
#3
JOURNAL ARTICLE
Emily Devoy, Dominic Hughes, Asma Falah Alharbi, Jacqueline Francis, Jane C Davies
Since screening for cystic fibrosis (CF) was incorporated into the newborn screening program, the number of recognised variants in the CF transmembrane conductance regulator (CFTR ) gene has significantly increased. This has led to the discovery of combinations of gene variants with an uncertain prognosis. One outcome is the designation of 'cystic fibrosis screen positive inconclusive diagnosis' (CFSPID). While the majority of these children are expected to be unaffected by their CFTR variants, a small proportion have been seen to develop symptoms or increasing sweat chloride levels over time, which may reflect dysfunction of the CFTR protein...
March 7, 2024: Archives of Disease in Childhood. Education and Practice Edition
https://read.qxmd.com/read/38444668/single-centre-prospective-evaluation-of-the-first-5%C3%A2-years-of-cystic-fibrosis-newborn-screening-in-germany
#4
JOURNAL ARTICLE
Florian Gesenhues, Katarzyna Michel, Tobias Greve, Wulf Röschinger, Florian Gothe, Jenna Nübling, Maria Feilcke, Carolin Kröner, Ingo Pawlita, Franziska Sattler, Elias Seidl, Matthias Griese, Matthias Kappler
BACKGROUND: In 2016, nationwide cystic fibrosis newborn screening (CFNS) was newly implemented in Germany, using an immunoreactive trypsin/pancreatitis-associated protein/DNA screening algorithm that differs from most other nationwide screening programmes. METHODS: We analysed real-life feasibility of the confirmation process with respect to our pre-specified procedural objectives. These included overall accuracy through false-negative and false-positive results, effectiveness of the Bavarian tracking system, and accuracy of Macroduct and Nanoduct sweat conductivity compared with quantitative chloride determination...
March 2024: ERJ Open Research
https://read.qxmd.com/read/38328645/selective-screening-for-inherited-metabolic-disorders-in-a-tertiary-care-hospital-of-karachi-a-retrospective-chart-review
#5
JOURNAL ARTICLE
Fatima Kanani, Saba Shahid, Dua Sameer, Sidra Maqsood
BACKGROUND & OBJECTIVE: Selective high-risk screening of children suspected of having inherited metabolic disorders was conducted jointly by Chemical Pathology section and the Pediatric Department of Indus Hospital and Health Network- (IHHN) from October 2020-March 2022. Tandem mass spectrometry (MS) for newborn screening was recently introduced in a local laboratory. We did a selective high screening of children for metabolic disorders by using MS for neonates and other relevant tests for older children in our hospital...
January 2024: Pakistan Journal of Medical Sciences Quarterly
https://read.qxmd.com/read/38296503/pseudo-bartter-syndrome-as-the-initial-presentation-of-cystic-fibrosis-in-children-an-important-diagnosis-not-to-be-missed
#6
JOURNAL ARTICLE
Carlota Ferreirinha Lopes, Vera Almeida, Susana Gomes, Carla Cruz
Pseudo-Bartter syndrome (PBS) is characterised by hyponatraemic, hypochloraemic metabolic alkalosis that mimics Bartter syndrome, without renal tubular disease. We present a case of an infant with a positive cystic fibrosis (CF) newborn screening, hospitalised during the summer with dehydration, oliguria and apathy. Blood analysis revealed hypochloraemic metabolic alkalosis, hypokalaemia and hyponatraemia. Urine analysis showed leucocyturia with reduced sodium and chloride excretion fraction, and urinary culture was positive for Citrobacter koseri After antibiotherapy and intravenous rehydration with additional supplementation of sodium and chloride, the patient recovered completely...
January 31, 2024: BMJ Case Reports
https://read.qxmd.com/read/38275615/aromatic-l-amino-acid-decarboxylase-deficiency-a-genetic-screening-in-sicilian-patients-with-neurological-disorders
#7
JOURNAL ARTICLE
Sandro Santa Paola, Francesco Domenico Di Blasi, Eugenia Borgione, Mariangela Lo Giudice, Marika Giuliano, Rosa Pettinato, Vincenzo Di Stefano, Filippo Brighina, Antonino Lupica, Carmela Scuderi
Aromatic L-amino acid decarboxylase deficiency (AADCd) is a rare autosomal recessive neurometabolic disorder caused by AADC deficiency, an enzyme encoded by the DDC gene. Since the enzyme is involved in the biosynthesis of serotonin and dopamine, its deficiency determines the lack of these neurotransmitters, but also of norepinephrine and epinephrine. Onset is early and the key signs are hypotonia, movement disorders (oculogyric crises, dystonia and hypokinesia), developmental delay and autonomic dysfunction...
January 21, 2024: Genes
https://read.qxmd.com/read/38265526/comparison-of-refugee-patients-with-cystic-fibrosis-and-their-counterpart-children-from-turkey-during-the-war
#8
JOURNAL ARTICLE
Aslı İmran Yılmaz, Sevgi Pekcan, Tuğba Şişmanlar Eyüboğlu, Melih Hangül, Hüseyin Arslan, Ayşe Ayzıt Kılınç, Haluk Çokuğraş, Elif Arık, Özlem Keskin, Ali Özdemir, Murat Ersoy, Ali Ersoy, Mehmet Köse, Beste Özsezen, Gökçen Ünal, Ömür Ercan, Saniye Girit, Sinem Can Oksay, Yasemin Gökdemir, Bülent Karadağ, Velat Şen, Erkan Çakır, Hasan Yüksel, Merve Nur Tekin, Ayşe Tana Aslan
Since the outbreak of the Syrian civil war in 2011, the population of Arab refugees in Turkey has rapidly increased. While cystic fibrosis (CF) is believed to be rare among Arabs, recent studies suggest it is underdiagnosed. This study aims to present the demographic, clinical, and genetic characteristics of CF patients among Arab refugees in Turkey. Additionally, a comparison is made between the findings in the National CF Registry 2021 in Turkey (NCFRT) and the refugee CF patient group. The study included refugee patients between the ages of 0 and 18 years who were diagnosed with CF and received ongoing care at pediatric pulmonology centers from March 2011 to March 2021...
January 24, 2024: European Journal of Pediatrics
https://read.qxmd.com/read/38255406/the-psychological-impact-on-parents-of-children-who-receive-an-inconclusive-diagnosis-for-cystic-fibrosis-following-newborn-screening-a-systematic-mini-review
#9
REVIEW
Ioanna Loukou, Maria Moustaki, Konstantinos Douros
Newborn screening (NBS) has been available for the diagnosis of cystic fibrosis (CF) over the last decades. Through the implementation of NBS, a new designation emerged, that of CF related metabolic syndrome (CRMS) or cystic fibrosis screen positive inconclusive diagnosis (CFSPID). As there is uncertainty regarding the clinical progression of these infants to CF, some studies have investigated the psychological impact of CRMS/CFSPID on their parents. This systematic narrative review aimed to describe the findings of the relevant studies...
January 12, 2024: Children
https://read.qxmd.com/read/38253430/rate-and-predictors-of-insufficient-sweat-volume-in-very-young-infants-after-pilocarpine-gel-iontophoresis-prospective-population-based-study
#10
JOURNAL ARTICLE
Paulo Camargos, Renata Marcos Bedran, Cristina Gonçalves Alvim, Olívia Gonçalves Sader
OBJECTIVE: To verify the rate and predictors of 'quantity not sufficient' (QNS) among Brazilian infants younger than 3 months with positive newborn screening (NBS) for cystic fibrosis (CF). DESIGN: Prospective, population-based study. SETTING: Public Statewide Newborn Screening Programme where the incidence rate of CF is ≈1:11 000. PATIENTS: Subjects with positive two-tiered immunoreactive trypsinogen...
January 22, 2024: Archives of Disease in Childhood
https://read.qxmd.com/read/38248633/influence-of-season-storage-temperature-and-time-of-sample-collection-in-pancreatitis-associated-protein-based-algorithms-for-newborn-screening-for-cystic-fibrosis
#11
JOURNAL ARTICLE
Pia Maier, Sumathy Jeyaweerasinkam, Janina Eberhard, Lina Soueidan, Susanne Hämmerling, Dirk Kohlmüller, Patrik Feyh, Gwendolyn Gramer, Sven F Garbade, Georg F Hoffmann, Jürgen G Okun, Olaf Sommerburg
Newborn screening (NBS) for cystic fibrosis (CF) based on pancreatitis-associated protein (PAP) has been performed for several years. While some influencing factors are known, there is currently a lack of information on the influence of seasonal temperature on PAP determination or on the course of PAP blood concentration in infants during the first year of life. Using data from two PAP studies at the Heidelberg NBS centre and storage experiments, we compared PAP determinations in summer and winter and determined the direct influence of temperature...
January 12, 2024: International Journal of Neonatal Screening
https://read.qxmd.com/read/38132824/cystic-fibrosis-cases-missed-by-newborn-bloodspot-screening-towards-a-consistent-definition-and-data-acquisition
#12
JOURNAL ARTICLE
Anne Munck, Kevin W Southern, Jared Murphy, Karin M de Winter-de Groot, Silvia Gartner, Bülent Karadag, Nataliya Kashirskaya, Barry Linnane, Marijke Proesmans, Dorota Sands, Olaf Sommerburg, Carlo Castellani, Jürg Barben
Repeated European surveys of newborn bloodspot screening (NBS) have shown varied strategies for collecting missed cases, and information on data collection differs among countries/regions, hampering data comparison. The ECFS Neonatal Screening Working Group defined missed cases by NBS as either false negatives, protocol-related, concerning analytical issues, or non-protocol-related, concerning pre- and post-analytical issues. A questionnaire has been designed and sent to all key workers identified in each NBS programme to assess the feasibility of collecting data on missed cases, the stage of the NBS programme when the system failed, and individual patient data on each missed case...
November 21, 2023: International Journal of Neonatal Screening
https://read.qxmd.com/read/38131505/clinical-features-associated-with-pulmonary-exacerbation-diagnosis-in-infants-and-young-children-with-cystic-fibrosis
#13
JOURNAL ARTICLE
Aoife Corcoran, Walter Faig, Clement L Ren
RATIONALE: Diagnosing cystic fibrosis (CF) pulmonary exacerbations (PEx) in very young people with CF <3 years (VY-PwCF) is challenging because of the frequency of respiratory viral infections in this age group, and there are limited data on the clinical features associated with the diagnosis of PEx in this age group. The goal of this study was to identify clinical features associated with the diagnosis of PEx in VY-PwCF. METHODS: We reviewed the medical records of VY-PwCF followed at the Children's Hospital of Philadelphia born between 2013 and 2019...
December 22, 2023: Pediatric Pulmonology
https://read.qxmd.com/read/38054992/risk-of-cftr-related-disorders-and-cystic-fibrosis-in-an-italian-cohort-of-crms-cfspid-subjects-in-preschool-and-school-age
#14
JOURNAL ARTICLE
C Fevola, D Dolce, A Tosco, R Padoan, V Daccò, L Claut, T Schgor, A Sepe, S Timpano, B Fabrizzi, P Piccinini, G Taccetti, P Bonomi, V Terlizzi
UNLABELLED: The identification of cystic fibrosis screening-positive, inconclusive diagnosis (CFSPID) in infants is a controversial outcome of newborn screening for cystic fibrosis (CF). Today, despite improvements in the knowledge of CFSPID and the description of several cohorts, little data are available on cohorts with a follow-up period of more than 6 years. In this study, we report the outcomes of an Italian cohort of CFSPID individuals with CFSPID or formerly CFTR-related disorders (CFTR-RD) (CFSPID > CFTR-RD) or diagnosed with CF (CFSPID > CF)...
December 6, 2023: European Journal of Pediatrics
https://read.qxmd.com/read/38028053/pseudo-bartter-syndrome-in-infant-with-cystic-fibrosis-screen-positive-inconclusive-diagnosis-a-case-report
#15
Angela Sepe, Camilla Romano, Ivana Landi, Alice Castaldo, Chiara Cimbalo, Federica Farina, Manuela Scorza, Laura Salvadori, Valeria Raia, Antonella Tosco
The introduction of newborn screening for cystic fibrosis (CF) increased diagnosis of cystic fibrosis screen positive inconclusive diagnosis (CFSPID). We described the case of a 12-month-old boy with CFSPID who, during summer, presented Pseudo-Bartter syndrome with no diagnostic criteria for CF.
November 2023: Clinical Case Reports
https://read.qxmd.com/read/37973197/outcome-data-from-15-years-of-cystic-fibrosis-newborn-screening-in-a-large-uk-region
#16
JOURNAL ARTICLE
Sarah Jane Driscoll, Katie Heinz, Philippa Goddard, Maya Desai, Francis J Gilchrist
BACKGROUND: The West Midlands Newborn Bloodspot Screening Laboratory is one of 16 in the UK and serves two tertiary paediatric cystic fibrosis (CF) centres (Staffordshire Children's Hospital at Royal Stoke and Birmingham Children's Hospital). CF newborn bloodspot screening (NBS) in this region started in November 2006 prior to the UK national roll-out in 2007. It uses an immunoreactive trypsinogen (IRT)/DNA/IRT protocol. We report the outcomes from 15 years of CF screening. METHODS: The West Midlands CF NBS outcomes from 1 November 2006 to 31 October 2021 were reviewed...
November 16, 2023: Archives of Disease in Childhood
https://read.qxmd.com/read/37923102/one-step-ngs-molecular-analysis-of-the-cftr-gene-on-newborn-dried-blood-spots-gives-a-higher-diagnostic-sensitivity-in-affected-and-carrier-subjects-a-pilot-study
#17
JOURNAL ARTICLE
Marcella Nunziato, Flavio Starnone, Sonia Giordano, Marcella D'antonio, Domenico Scognamiglio, Maria Valeria Esposito, Antonio Correra, Federica Di Maggio, Valeria D'Argenio, Giovanni Luca Scaglione, Giuseppe Castaldo, Francesco Salvatore
BACKGROUND: Cystic fibrosis is the most common hereditary recessive disease with an incidence of about 1:2500/3000. It has long been known that the disease is caused by deleterious mutations in the CFTR gene. Conventionally, the disease is diagnosed in several phases. The analysis of all the possible disease-causing molecular alterations is time consuming and may not lead to a definitive diagnosis in several cases. Consequently, we propose, in this paper, a rapid sequencing method that, in a single procedural asset, reveals the presence of small mutations and also the copy number variants (CNVs) from the DNA extracted from the Guthrie Spot...
November 1, 2023: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://read.qxmd.com/read/37908398/nationwide-lung-function-monitoring-from-infancy-in-newborn-screened-children-with-cystic-fibrosis
#18
JOURNAL ARTICLE
Rikke M Sandvik, Marika N Schmidt, Christian M Voldby, Frederik F Buchvald, Hanne V Olesen, Jørgen Olsen, Maja V Kragh, Sune L M Rubak, Tacjana Pressler, Paul D Robinson, Per M Gustafsson, Marianne Skov, Kim G Nielsen
BACKGROUND: Cystic fibrosis (CF) lung disease starts in infancy and can be assessed for structural lung abnormalities using computed tomography or magnetic resonance scans, or for lung function impairment using multiple breath washout (MBW). However, in infancy these two methods are not well correlated. Trajectories of CF lung disease assessed by MBW in infants and toddlers remain poorly described, which is why we aimed to 1) describe the trajectory of lung function, 2) explore risk factors for progression and 3) explore the real-life effect of lumacaftor/ivacaftor...
September 2023: ERJ Open Research
https://read.qxmd.com/read/37888495/severe-lung-disease-in-children-with-cystic-fibrosis-missed-in-newborn-screening
#19
REVIEW
Kathrine Baldwin, Erin McElroy Barker, Mary Carayannopoulos, Philip M Farrell, Robert Zanni, Thomas F Scanlin
BACKGROUND: Cystic fibrosis (CF) is now routinely diagnosed through newborn screening (NBS), but the tests employed in the USA have been evolving for two decades as missed cases become recognized and lab methods improve in association with more knowledge about CF genetics. New Jersey was among the first states to implement CF NBS in 2001 when it introduced the original two-tiered method that combined measurements of immunoreactive trypsinogen (IRT) with detection of the principal pathogenic variant (F508del) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene...
January 2024: Pediatric Pulmonology
https://read.qxmd.com/read/37873848/prospects-for-expansion-of-universal-newborn-screening-in-bulgaria-a-survey-among-medical-professionals
#20
JOURNAL ARTICLE
Georgi Iskrov, Vyara Angelova, Boyan Bochev, Vaska Valchinova, Teodora Gencheva, Desislava Dzhuleva, Julian Dichev, Tanya Nedkova, Mariya Palkova, Anelia Tyutyukova, Maria Hristova, Eleonora Hristova-Atanasova, Rumen Stefanov
Determining the scope of a newborn screening program is a challenging health policy issue. Our study aimed to explore the attitudes of specialists in pediatrics, neonatology, medical genetics, and biochemistry regarding the prospects for expanding the panel of diseases for universal newborn screening in Bulgaria. We conducted an online survey in March-May 2022. The questionnaire listed 35 disorders that could potentially be included in the Bulgarian panel for universal newborn screening. If endorsing a specific condition, participants had to justify their position by judging its performance against the ten principles of Wilson and Jungner...
October 11, 2023: International Journal of Neonatal Screening
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