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(meconium ileus)
815 results
  • Cystic fibrosis in Turkey: First data from the national registry. [Journal Article]
    Pediatr Pulmonol 2019Dogru D, Çakır E, … Özçelik U
  • CONCLUSIONS: Low coverage rate, lack of genotyping, unidentified mutations, and missing data of lung functions are some of our greatest challenges. Including data of all centers and reducing missing data will provide more accurate data and help to improve the CF care in Turkey in the future.
  • Cystic fibrosis newborn screening in Denmark: Experience from the first 2 years. [Journal Article]
    Pediatr Pulmonol 2019Skov M, Baekvad-Hansen M, … Duno M
  • CONCLUSIONS: During the first 2 years of NBS CF screening in Denmark, we identified close to the expected number of infants with CF using an algorithm based on IRT, presence of F508del mutation and comprehensive genetic analysis. CFSPID accounted for only a small minority, despite comprehensive CFTR sequencing, whereas more carriers than initially expected were identified.
  • Distal intestinal obstruction syndrome: a diagnostic and therapeutic challenge in cystic fibrosis. [Journal Article]
    J Pediatr (Rio J) 2019Sandy NS, Massabki LHP, … Lomazi EA
  • CONCLUSIONS: In this first report of pediatric DIOS in South America, the presence of two risk factors for DIOS occurrence was universal: pancreatic insufficiency and severe genotype. Medical history of meconium ileus at birth was present in most patients, as well as in the subgroup with DIOS recurrence. The diagnosis relied mainly on the clinical presentation and on abdominal imaging. The practices in the management of episodes varied, likely reflecting changes in the management of this syndrome throughout time.
  • N-acetylcysteine for Management of Distal Intestinal Obstruction Syndrome. [Review]
    J Pediatr Pharmacol Ther 2019 Sep-Oct; 24(5):390-397Schauble AL, Bisaccia EK, … Nasr SZ
  • With the improving life expectancy of cystic fibrosis patients, new manifestations of the disease are emerging. Distal intestinal obstruction syndrome is one of the increasingly noted complications. Traditionally this syndrome was treated surgically. N-acetylcysteine is sometimes used as a non-surgical treatment option despite lack of definitive evidence for its efficacy and safety and not being …
  • Value of prenatal diagnosis of meconium peritoneum: Comparison of outcomes of prenatal and postnatal diagnosis. [Journal Article]
    Medicine (Baltimore) 2019; 98(39):e17079Chen CW, Peng CC, … Lee HC
  • Advancements in diagnostic modalities have improved the diagnosis of meconium peritonitis (MP) both in utero and ex utero. This study aimed to determine the efficacy of prompt prenatal and postnatal diagnoses of MP on the postnatal outcomes of these patients.We conducted a retrospective chart review of neonates with MP admitted to the Mackay Memorial Hospital Systems from 2005 to 2016. The prenat…
  • Waardenburg Syndrome Type IV De Novo SOX10 Variant Causing Chronic Intestinal Pseudo-Obstruction. [Case Reports]
    Pediatr Gastroenterol Hepatol Nutr 2019; 22(5):487-492Hogan AR, Rao KA, … Perez EA
  • Waardenburg syndrome (WS) type IV is characterized by pigmentary abnormalities, deafness and Hirschsprung's disease. This syndrome can be triggered by dysregulation of the SOX10 gene, which belongs to the SOX (SRY-related high-mobility group-box) family of genes. We discuss the first known case of a SOX10 frameshift mutation variant defined as c.895delC causing WS type IV without Hirschsprung's d…
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