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Korean Journal of Radiology Jan 2022Gastrointestinal (GI) emergencies in neonates and infants encompass from the beginning to the end of the GI tract. Both congenital and acquired conditions can cause... (Review)
Review
Gastrointestinal (GI) emergencies in neonates and infants encompass from the beginning to the end of the GI tract. Both congenital and acquired conditions can cause various GI emergencies in neonates and infants. Given the overlapping or nonspecific clinical findings of many different neonatal and infantile GI emergencies and the unique characteristics of this age group, appropriate imaging is key to accurate and timely diagnosis while avoiding unnecessary radiation hazard and medical costs. In this paper, we discuss the radiological findings of essential neonatal and infantile GI emergencies, including esophageal atresia and tracheoesophageal fistula, hypertrophic pyloric stenosis, duodenal atresia, malrotation, midgut volvulus for upper GI emergencies, and jejunoileal atresia, meconium ileus, meconium plug syndrome, meconium peritonitis, Hirschsprung disease, anorectal malformation, necrotizing enterocolitis, and intussusception for lower GI emergencies.
Topics: Diagnostic Imaging; Duodenal Obstruction; Humans; Infant; Infant, Newborn; Intestinal Atresia; Intussusception
PubMed: 34983099
DOI: 10.3348/kjr.2021.0111 -
Diagnostics (Basel, Switzerland) Jun 2024The early management of neonates with meconium ileus (MI) and cystic fibrosis (CF) is highly variable across countries and is not standardized. We conducted a systematic... (Review)
Review
The early management of neonates with meconium ileus (MI) and cystic fibrosis (CF) is highly variable across countries and is not standardized. We conducted a systematic review according to the Preferred Reporting Items for Systematic Reviews and Meta-analyses statement. The protocol was registered in PROSPERO (CRD42024522838). Studies from three providers of academic search engines were checked for inclusion criteria, using the following search terms: meconium ileus AND cystic fibrosis OR mucoviscidosis. Regarding the patient population studied, the inclusion criteria were defined using our predefined PICOT framework: studies on neonates with simple or complicated meconium which were confirmed to have cystic fibrosis and were conservatively managed or surgically treated. Results: A total of 566 publications from the last 10 years were verified by the authors of this review to find the most recent and relevant data, and only 8 met the inclusion criteria. Prenatally diagnosed meconium pseudocysts, bowel dilation, and ascites on ultrasound are predictors of neonatal surgery and risk factor for negative 12-month clinical outcomes in MI-CF newborns. For simple MI, conservative treatment with hypertonic solutions enemas can be effective in more than 25% of cases. If repeated enemas fail to disimpact the bowels, the Bishop-Koop stoma is a safe option. No comprehensive research has been conducted so far to determine the ideal surgical protocol for complicated MI. We only found three studies that reported the types of stomas performed and another study comparing the outcomes of patients depending on the surgical management; the conclusions are contradictory especially since the number of cases analyzed in each study was small. Between 18% and 38% of patients with complicated MI will require reoperation for various complications and the mortality rate varies between 0% and 8%. Conclusion: This study reveals a lack of strong data to support management decisions, unequivocally shows that the care of infants with MI is not standardized, and suggests a great need for international collaborative studies.
PubMed: 38893705
DOI: 10.3390/diagnostics14111179 -
Best Practice & Research. Clinical... 2022Cystic fibrosis (CF) is the most frequent life-limiting autosomal recessive disease in Caucasians, affecting the respiratory tract, but also the pancreas, gut, and... (Review)
Review
Cystic fibrosis (CF) is the most frequent life-limiting autosomal recessive disease in Caucasians, affecting the respiratory tract, but also the pancreas, gut, and hepatobiliary tract. CF is caused by variants in the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene. Prognosis of CF has markedly improved over the last 20 years because of the management in CF centers and recent introduction of CFTR modulators, aimed at correcting the defective CFTR protein. There are nowadays more CF adults than children, with a predicted median survival age of around 50 years in high-income countries. Around 85% of CF patients have pancreatic insufficiency present at birth. Gastroesophageal reflux disease (GERD) is more frequent in CF patients, but its role on decline in lung health is controversial. Distal small bowel obstruction syndrome (DIOS) caused by meconium-like stool plugs occurs at any age after the neonatal period, affecting up to 15-20% of CF patients. Because of increased life expectancy, most CF patients are expected to live to their fifties or beyond, when cancer is more frequent. In addition, CF is associated with a higher risk for GI malignancy as compared with the general population. Colorectal cancer represents the most significant risk, and colonoscopy-based screening is recommended from 40 years of age onwards. Other digestive outcomes in CF reviewed in this paper include meconium ileus, Clostridium difficile infection, intussusception, acute appendicitis, small intestinal bacterial overgrowth, appendiceal mucocele and rectal prolapse. Every CF Center should comprise a gastroenterologist with expertise in the care of CF patients.
Topics: Abdomen; Adult; Child; Cystic Fibrosis; Feces; Humans; Infant, Newborn; Middle Aged; Prognosis; Syndrome
PubMed: 35331400
DOI: 10.1016/j.bpg.2022.101788 -
Minerva Pediatrica Oct 2020As improvements in nutritional and pulmonary care increase the life expectancy of cystic fibrosis (CF) patients, CF-associated liver disease (CFLD) is emerging as a... (Review)
Review
As improvements in nutritional and pulmonary care increase the life expectancy of cystic fibrosis (CF) patients, CF-associated liver disease (CFLD) is emerging as a cause of mortality. CFLD is the third leading cause of death in CF patients. We performed a search on PubMed and Google Scholar for published articles on CFLD. We reviewed the articles found in the literature search and gave priority to recent publications and studies with larger sample sizes. The prevalence of CFLD in the CF population is around 23% with a range of 2-62% and that prevalence increases linearly with age from 3.7% at age 5 to 32.2% at age 30. CFLD can present clinically in various ways such as hepatomegaly, variceal hemorrhage, persistent elevation of liver enzymes, and micro-gallbladder. Due to the focal nature of fibrosis in majority cases of CFLD, liver biopsies are sparsely performed for diagnosis or the marker of liver fibrosis. Although the mechanism of CFLD development is still unknown, many potential factors are reported. Some mutations of CFTR such as having a homozygous F508del mutation has been reported to increase the risk of developing CFLD and its severity. Having the SERPINA1 Z allele, a history of pancreatic insufficiency, a history meconium ileus, CF-related diabetes, or being male increases the risk of developing CFLD. Environmental factors do not appear to have significant effect on modulating CFLD development. Ursodeoxycholic acid is commonly used to treat or prevent CFLD, but the efficacy of this treatment is questionable.
Topics: Adolescent; Adult; Age Factors; Alleles; Cause of Death; Child; Child, Preschool; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Esophageal and Gastric Varices; Female; Hepatomegaly; Homozygote; Humans; Hypertension, Portal; Liver; Male; Mutation; Prevalence; Primary Prevention; Sex Factors; Splenomegaly; Ursodeoxycholic Acid; Young Adult; alpha 1-Antitrypsin
PubMed: 32418413
DOI: 10.23736/S0026-4946.20.05895-8 -
Radiographics : a Review Publication of... Aug 2023Radiologic evaluation of neonatal bowel obstruction is challenging owing to the overlapping clinical features and imaging appearances of the most common differential...
Radiologic evaluation of neonatal bowel obstruction is challenging owing to the overlapping clinical features and imaging appearances of the most common differential diagnoses. The key to providing an appropriate differential diagnosis comes from a combination of the patient's gestational age, clinical features, and imaging findings. While assessment of radiographs can confirm bowel obstruction and indicate whether it is likely proximal or distal, additional findings at upper or lower gastrointestinal contrast study together with use of US are important in providing an appropriate differential diagnosis. The authors provide an in-depth assessment of the appearances of the most common differential diagnoses of proximal and distal neonatal bowel obstruction at abdominal radiography and upper and lower gastrointestinal contrast studies. These are divided into imaging patterns and their associated differential diagnoses on the basis of abdominal radiographic findings. These findings include esophageal atresia variants including the "single bubble," "double bubble," and "triple bubble" and distal bowel obstruction involving the small and large bowel. Entities discussed include esophageal atresia, hypertrophic pyloric stenosis, pyloric atresia, duodenal atresia, duodenal web, malrotation with midgut volvulus, jejunal atresia, ileal atresia, meconium ileus, segmental volvulus, internal hernia, colonic atresia, Hirschsprung disease, and functional immaturity of the large bowel. The authors include the advantages of abdominal US in this algorithm, particularly for hypertrophic pyloric stenosis, duodenal web, malrotation with midgut volvulus, and segmental volvulus. RSNA, 2023 Quiz questions for this article are available through the Online Learning Center.
Topics: Infant, Newborn; Humans; Intestinal Volvulus; Esophageal Atresia; Pyloric Stenosis, Hypertrophic; Intestinal Obstruction; Duodenal Obstruction; Digestive System Abnormalities; Radiography, Abdominal; Duodenal Diseases
PubMed: 37471246
DOI: 10.1148/rg.230035 -
The Surgical Clinics of North America Oct 2022Cystic fibrosis is an autosomal-recessive defect in the cystic fibrosis transmembrane conductance regulator (CFTR) gene located on chromosome 7 that affects 1 in 2500... (Review)
Review
Cystic fibrosis is an autosomal-recessive defect in the cystic fibrosis transmembrane conductance regulator (CFTR) gene located on chromosome 7 that affects 1 in 2500 live White births. Defects in the gene lead to abnormally thick secretions causing chronic obstruction in the respiratory and gastrointestinal tracts. Common gastrointestinal pathology in children with cystic fibrosis includes meconium ileus in infancy and distal intestinal obstruction syndrome in childhood and exocrine pancreatic insufficiency, constipation, and rectal prolapse. This article describes the presentation, diagnosis, and management of these conditions in patients with cystic fibrosis, from birth to adulthood.
Topics: Adult; Child; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Humans; Ileus; Infant, Newborn; Intestinal Obstruction; Meconium; Meconium Ileus
PubMed: 36209752
DOI: 10.1016/j.suc.2022.07.016 -
Der Radiologe Sep 2020Abdominal complications are often the first indications for cystic fibrosis (CF), a multiorgan disease. A broad range of abdominal manifestations are associated with... (Review)
Review
CLINICAL ISSUE
Abdominal complications are often the first indications for cystic fibrosis (CF), a multiorgan disease. A broad range of abdominal manifestations are associated with the disease, including gastrointestinal abnormalities (such as meconium ileus in newborns and distal intestinal obstruction syndrome in older children) and hepatobiliary alterations (e.g., cholelithiasis, microgallbladder, hepatosteatosis, biliary cirrhosis). A characteristic finding is pancreatic involvement, which leads to exocrine and over the course of time to endocrine insufficiency.
STANDARD RADIOLOGICAL METHODS
Ultrasonography is the preferred and often sole modality for a precise diagnosis of abdominal CF manifestations. However, all imaging modalities can be used, depending on the pathology: X‑ray, fluoroscopic examinations, computed tomography, magnetic resonance imaging (also with application of magnetic resonance cholangiopancreatography).
METHODICAL INNOVATIONS/PERFORMANCE
Scoring systems are useful for standardized diagnostics. Sonographic findings, described using a scoring system, correlate with clinical symptoms, such as pancreatic lipomatosis with abdominal pain (p = 0.018), flatulence (p = 0.006), and gastroesophageal reflux (p = 0.006).
EVALUATION/PRACTICAL RECOMMENDATIONS
A standardized approach with structured reporting is important due to the numerous abdominal CF manifestations. To enable precise follow-up analyses, scoring systems based on sonographic findings are excellent.
Topics: Abdomen; Adolescent; Aged; Child; Cystic Fibrosis; Humans; Infant, Newborn; Intestinal Obstruction; Pancreas; Tomography, X-Ray Computed
PubMed: 32495009
DOI: 10.1007/s00117-020-00703-4 -
Archives de Pediatrie : Organe Officiel... Feb 2020Because CFTR gene studies now represent one of the most frequent genetic analyses routinely performed worldwide, the number of rare CFTR variants identified in various... (Review)
Review
Because CFTR gene studies now represent one of the most frequent genetic analyses routinely performed worldwide, the number of rare CFTR variants identified in various clinical situations, regularly increases. To provide appropriate diagnosis and prognosis to CF patients as well as appropriate genetic counseling to families, the clinical impact and the phenotypic spectrum of variants identified by diagnostic techniques need to be characterized. Three complementary locus specific databases, called CFTR1, CFTR2 and CFTR-France were developed to address these issues. Besides, the growing knowledge of the CF pathophysiology and the technical evolution in molecular biology allowed to identify candidate modifier genes, regulatory loci, epigenetic profiles and trans-regulators that could help to refine genotype-phenotype correlations at the individual level. These different factors may contribute to the large phenotypic variability between patients with CF, even when they carry identical CFTR variants, regarding lung function, meconium ileus susceptibility or the risk for developing CFTR-related diabetes and liver disease. Finally, the availability of new therapies that target the CFTR protein for numbers of CF patients led to the identification of 'good' and 'poor' responders, thus raising questions of pharmacogenetics factors that may influence treatment efficiency as a novel feature of the complexity of CF patients' management. © 2020 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.
Topics: Alleles; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Databases, Genetic; Diabetes Mellitus; Gene Expression Regulation; Genotype; Humans; Liver Diseases; Meconium Ileus; Mutation; Pharmacogenomic Variants; Phenotype; Transcription, Genetic
PubMed: 32172930
DOI: 10.1016/S0929-693X(20)30045-2