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International Journal of Neonatal... Jun 2020Screening metrics are essential to both quality assessment and improvement, but are highly dependent on the way positive tests and cases are counted. In cystic fibrosis... (Review)
Review
Screening metrics are essential to both quality assessment and improvement, but are highly dependent on the way positive tests and cases are counted. In cystic fibrosis (CF) screening, key factors include how mild cases of late-presenting CF and CF screen positive, inconclusive diagnosis (CFSPID) are counted, whether those at prior increased risk of CF are excluded from the screened population, and which aspects of the screening pathway are considered. This paper draws on the New Zealand experience of almost forty years of newborn screening for CF. We demonstrate how different definitions impact the calculation of screening sensitivity. We suggest that, to enable meaningful comparison, CF screening reports should clarify what steps in the screening pathway are included in the assessment, as well as the algorithm used and screening target.
PubMed: 33073037
DOI: 10.3390/ijns6020047 -
Scientific Reports Mar 2020Very low birth weight (VLBW) neonates experience various problems, including meconium-related ileus (MRI). This study investigated the risk factors of MRI and surgical...
Very low birth weight (VLBW) neonates experience various problems, including meconium-related ileus (MRI). This study investigated the risk factors of MRI and surgical MRI in VLBW infants. VLBW neonates admitted to the Neonatal Intensive Care Unit of Seoul National University Children's Hospital from October 2002 to September 2016 were included in the study. The diagnostic criteria for MRI were a decreased frequency of defecation with intolerable feeding, vomiting, and increased gastric residue (>50%); meconium-filled bowel dilatation in an imaging study; and no evidence of necrotizing enteritis or spontaneous intestinal perforation. Medical MRIs and surgical MRIs were managed through conventional treatment and surgical intervention. Of 1543 neonates, 69 and 1474 were in the patient and control groups, respectively. The risk factors for MRI include low birth weight (BW), cesarean section delivery, fetal distress, maternal diabetes, maternal hypertension, and maternal steroid use. Low BW and fetal distress were independent risk factors for MRI. Compared to the medical MRI group (n = 44), the risk factors for surgical MRI (n = 25) included males, younger gestational age, low BW, and meconium located at the small bowel. Male gender and low BW were independent risk factors for surgical MRI. Low BW and fetal distress were independent risk factors for MRI and male gender and low BW were independent risk factors for surgical MRI. In VLBW neonates, careful attention to the risk factors for MRI could minimize or avoid surgical interventions.
Topics: Apgar Score; Birth Weight; Case-Control Studies; Disease Susceptibility; Enterocolitis, Necrotizing; Female; Gestational Age; Humans; Ileus; Infant, Extremely Low Birth Weight; Male; Meconium; Prognosis; Republic of Korea; Risk Assessment; Risk Factors
PubMed: 32170203
DOI: 10.1038/s41598-020-60016-3 -
Journal of Cystic Fibrosis : Official... Nov 2019Meconium ileus (MI) affects up to 20% of newborns with cystic fibrosis (CF). We compared clinical outcomes between Australian paediatric CF patients with and without...
BACKGROUND
Meconium ileus (MI) affects up to 20% of newborns with cystic fibrosis (CF). We compared clinical outcomes between Australian paediatric CF patients with and without meconium ileus (non-MI).
METHODS
This was a retrospective case-control study of MI and non-MI patients in New South Wales, Australia, from 1988 to 2010. MI patients were matched 1:1 with pancreatic insufficient non-MI patients for age, sex and CF clinic. Clinical measurements, nutrition and gastrointestinal outcomes over this period were compared between groups using linear mixed models for continuous variables to account for age.
RESULTS
There were 162 matched pairs (N=324, 52% female) with mean (SD) age of 15.3 (8.2) and 14.9 (7.9) years for MI and non-MI patients respectively (P=0.6). MI patients aged 5-23 had poorer FEV1% compared to non-MI patients (estimate -0.070 SE [0.02], P=0.003). There were no significant differences in P. aeruginosa isolation rates; however S. aureus isolation rates were lower in MI patients (72%) compared to non-MI (82%) (OR 0.6 [0.3-1.0], P=0.03). Chronic colonisation rates for P. aeruginosa and S. aureus were not significantly different between groups. MI patients aged 2-20 had significantly lower BMI Z-scores over time (estimate -0.25 SE [0.1], P=0.02). MI patients were more likely to receive oral feed supplements (OR 2.8 [1.4-6.1], P=0.003) and gastrostomy formation (OR 4.4 [1.1-24.6], P=0.02).
CONCLUSIONS
CF patients with MI may have worse lung function, growth and nutrition than non-MI patients over time. Meconium ileus may be an early poor prognostic factor for CF.
Topics: Adolescent; Australia; Case-Control Studies; Cystic Fibrosis; Early Diagnosis; Exocrine Pancreatic Insufficiency; Female; Growth Disorders; Humans; Infant, Newborn; Male; Malnutrition; Meconium Ileus; Nutritional Status; Prognosis; Pseudomonas aeruginosa; Respiratory Function Tests; Respiratory Tract Infections; Retrospective Studies; Staphylococcus aureus
PubMed: 31672555
DOI: 10.1016/j.jcf.2019.09.008 -
Cold Spring Harbor Perspectives in... Sep 2012Mucus pathology in cystic fibrosis (CF) has been known for as long as the disease has been recognized and is sometimes called mucoviscidosis. The disease is marked by... (Review)
Review
Mucus pathology in cystic fibrosis (CF) has been known for as long as the disease has been recognized and is sometimes called mucoviscidosis. The disease is marked by mucus hyperproduction and plugging in many organs, which are usually most fatal in the airways of CF patients, once the problem of meconium ileus at birth is resolved. After the CF gene, CFTR, was cloned and its protein product identified as a cAMP-regulated Cl(-) channel, causal mechanisms underlying the strong mucus phenotype of the disease became obscure. Here we focus on mucin genes and polymeric mucin glycoproteins, examining their regulation and potential relationships to a dysfunctional cystic fibrosis transmembrane conductance regulator (CFTR). Detailed examination of CFTR expression in organs and different cell types indicates that changes in CFTR expression do not always correlate with the severity of CF disease or mucus accumulation. Thus, the mucus hyperproduction that typifies CF does not appear to be a direct cause of a defective CFTR but, rather, to be a downstream consequence. In organs like the lung, up-regulation of mucin gene expression by inflammation results from chronic infection; however, in other instances and organs, the inflammation may have a non-infectious origin. The mucus plugging phenotype of the β-subunit of the epithelial Na(+) channel (βENaC)-overexpressing mouse is proving to be an archetypal example of this kind of inflammation, with a dehydrated airway surface/concentrated mucus gel apparently providing the inflammatory stimulus. Data indicate that the luminal HCO(3)(-) deficiency recently described for CF epithelia may also provide such a stimulus, perhaps by causing a mal-maturation of mucins as they are released onto luminal surfaces. In any event, the path between CFTR dysfunction and mucus hyperproduction has proven tortuous, and its unraveling continues to offer its own twists and turns, along with fascinating glimpses into biology.
Topics: Airway Obstruction; Animals; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Disease Models, Animal; Female; Gastrointestinal Tract; Gene Expression Regulation; Genitalia; Glycoproteins; Glycosylation; Humans; Lung; Male; Mice; Mucin 5AC; Mucins; Mucus; Pneumonia; RNA, Messenger
PubMed: 22951447
DOI: 10.1101/cshperspect.a009589 -
IUBMB Life Jun 2020Guanylyl cyclase C (GC-C) is the receptor for the heat-stable enterotoxin, which causes diarrhea, and the endogenous ligands, guanylin and uroguanylin. GC-C is... (Review)
Review
Guanylyl cyclase C (GC-C) is the receptor for the heat-stable enterotoxin, which causes diarrhea, and the endogenous ligands, guanylin and uroguanylin. GC-C is predominantly expressed in the intestinal epithelium and regulates fluid and ion secretion in the gut. The receptor has a complex domain organization, and in the absence of structural information, mutational analysis provides clues to mechanisms of regulation of this protein. Here, we review the mutational landscape of this receptor that reveals regulatory features critical for its activity. We also summarize the available information on mutations in GC-C that have been reported in humans and contribute to severe gastrointestinal abnormalities. Since GC-C is also expressed in extra-intestinal tissues, it is likely that mutations thus far reported in humans may also affect other organ systems, warranting a close observation of these patients in future.
Topics: Allosteric Regulation; Humans; Meconium Ileus; Mutation; Protein Domains; Receptors, Enterotoxin; Signal Transduction
PubMed: 32293781
DOI: 10.1002/iub.2283 -
Archives of Disease in Childhood Apr 1972The results of surgery for meconium ileus obstruction (37 cases) at Queen Elizabeth Hospital for Children, London, during the years 1953 to 1970 are presented. The...
The results of surgery for meconium ileus obstruction (37 cases) at Queen Elizabeth Hospital for Children, London, during the years 1953 to 1970 are presented. The surgical survival was 30% in the years 1953 to 1961, and 70% in the years 1962 to December 1970, inclusive. The long-term survival was 57%. Complications, such as small bowel atresia, gangrene, and meconium peritonitis, were associated with a higher mortality. The adoption of the Bishop Koop operation in 1962 coincided with the increase in the survival rate. An association between meconium ileus and hypertrophic pyloric stenosis was noted.
Topics: Age Factors; Birth Weight; Cystic Fibrosis; Female; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Male; Meconium; Postoperative Complications; Pyloric Stenosis; Time Factors
PubMed: 5023467
DOI: 10.1136/adc.47.252.207 -
World Journal of Clinical Cases Dec 2018To evaluate the occurrence and severity of enterostomy complications in newborns suffering from different intestinal disorders.
AIM
To evaluate the occurrence and severity of enterostomy complications in newborns suffering from different intestinal disorders.
METHODS
A 10-year retrospective cohort study (2008-2017) investigated newborns that underwent enterostomy formation and reversal for different intestinal disorders. Only infants less than 28 d old at the time of enterostomy creation were included in the study (corrected age was applied in the cases of preterm neonates). The patients were divided into two groups according to their underlying diseases. Group 1 included infants suffering from necrotizing enterocolitis (NEC), whereas Group 2 included newborns diagnosed with intestinal disorders other than NEC, such as meconium obstruction, anorectal malformation, focal intestinal perforation, ileus, intestinal atresia and volvulus. The primary outcome measure was enterostomy-related morbidity. The data were analyzed statistically using Pearson's χ test or Fisher's exact test for categorical variables and the Wilcoxon-Mann-Whitney -Test for continuous variables.
RESULTS
In total, 76 infants met the inclusion criteria and were evaluated for enterostomy-related complications. Neither group showed significant differences regarding gender, gestational age, weight at birth or weight at enterostomy formation. Infants suffering from NEC (Group 1) were significantly older at enterostomy formation than the neonates of Group 2 [median (range), 11 (2-75) d 4 (1-101) d, = 0.004)]. Significantly more ileostomies were created in Group 1 [47 (92.2%) 16 (64.0%), = 0.007], whereas colostomies were performed significantly more often in Group 2 [2 (3.9%) 8 (32.0%), = 0.002]. The initiation of enteral nutrition after enterostomy was significantly later in Group 1 infants than in Group 2 infants [median (range), 5 (3-13) 3 (1-9), < 0.001]. The overall rate of one or more complications in patients of both groups after enterostomy formation was 80.3%, with rates of 86.3% in Group 1 and 68.0% in Group 2 ( = 0.073). Most patients suffered from two complications (23.7%). Four or more complications occurred in 21.6% of the infants in Group 1 and in 12.0% of the infants in Group 2 ( = 0.365). Following enterostomy closure, at least one complication was observed in 26.0% of the patients (30.6% in Group 1 and 16.7% in Group 2, = 0.321). The occurrence of complications was not significantly different between neonates with NEC and infants with other intestinal disorders. 48 (65.8%) patients required no treatment or only pharmacological treatment for the complications that occurred [Clavien-Dindo-Classification (CDC) < III], while 25 (34.2%) required surgery to address the complications (CDC ≥ III). Early reversal of the enterostomy was performed significantly more often ( = 0.003) and the time to full enteral nutrition after closure was significantly longer [median (range), 7 (3-87) d 12 (5-93) d, = 0.006] in infants with a CDC grading ≥ III than in infants with a CDC grading < III.
CONCLUSION
Complications occur in almost all infants with enterostomies. The majority of these complications are minor and do not require surgical treatment. There is a clear trend that neonates with NEC have a higher risk for developing complications than those without NEC.
PubMed: 30613668
DOI: 10.12998/wjcc.v6.i16.1101 -
Prenatal Diagnosis Aug 2018To review fetal MRI cases surgically proven to have meconium ileus (MI) and obstruction, describe the common fetal MRI findings that distinguish cases of complicated MI,...
OBJECTIVE
To review fetal MRI cases surgically proven to have meconium ileus (MI) and obstruction, describe the common fetal MRI findings that distinguish cases of complicated MI, and to compare these findings with surgical images and perinatal outcomes.
METHOD
We performed a retrospective review of all fetal MRI examinations and the corresponding medical record from our tertiary care children's hospital over an 18-month period. Postnatal management and outcomes were reviewed for these patients, and those patients with surgical or postmortem diagnosis of complicated MI were included in the study.
RESULTS
Our analysis revealed 7 cases. In this cohort, 3 imaging features of the fetal bowel were repeatedly seen: gradient appearance of intraluminal bowel contents, abnormally localized meconium signal, and collapsed appearance of the colon on MRI. Surgical diagnoses confirmed MI. All live-born infants underwent surgical repair.
CONCLUSION
Fetal MRI should be included in the diagnostic algorithm of any pregnancy where fetal bowel obstruction is suspected to better risk stratify patients.
Topics: Colon; Female; Humans; Infant, Newborn; Magnetic Resonance Imaging; Meconium Ileus; Pregnancy; Prenatal Diagnosis; Retrospective Studies
PubMed: 29877592
DOI: 10.1002/pd.5296 -
Journal of Neonatal Surgery 2017Meconium ileus is a common cause of neonatal intestinal obstruction. Various surgical procedures are in practice for uncomplicated meconium ileus. Bishop Koop ileostomy...
BACKGROUND
Meconium ileus is a common cause of neonatal intestinal obstruction. Various surgical procedures are in practice for uncomplicated meconium ileus. Bishop Koop ileostomy allows distal passage of gut content and uses the distal absorptive area. T tube ileostomy avoids the need for gut resection and formal closure of stoma. The aim of this prospective interventional study was to compare the outcome of T-tube ileostomy and Bishop Koop ileostomy for the treatment of uncomplicated meconium ileus.
MATERIALS AND METHODS
It was a prospective interventional study from January 2015 to December 2016. Patients were randomly assigned to the T-tube ileostomy group (group A) and Bishop Koop ileostomy group (group B). The patients were followed up for 6 weeks post-operatively. Surgical outcomes between the two groups were compared.
RESULTS
The age range of the patients was 1 to 7 days; majority of the patients were males. Mean operation time of group A (60.76±5.81 minutes) and group B (87.05±6.49 minutes) showed significant difference (p =0.0001). After operation, mean time to start bowel movements in group A (4.90±1.41days) and group B (6.53±2.58 days) showed significant difference (p= 0.020). Times to establish oral feeding, irrigation tube removal and postoperative complications showed no significant difference. All patients that survived in the group B required formal stoma closure, while in the group A stomas closed spontaneously. One patient in the group A had intraperitoneal leakage leading to mortality after second operation. Four patients had leakage in the group B; 2 of them died.
CONCLUSIONS
T-tube ileostomy was found as an effective and safe procedure for the management of uncomplicated meconium ileus.
PubMed: 28920016
DOI: 10.21699/jns.v6i3.617 -
Archives of Disease in Childhood Aug 1970Medium chain triglycerides (MCT) bypass the steps necessary for the absorption of long chain fats (LCT), and so have theoretical grounds for their use in various disease... (Review)
Review
Medium chain triglycerides (MCT) bypass the steps necessary for the absorption of long chain fats (LCT), and so have theoretical grounds for their use in various disease states, particularly malabsorptive disorders. In childhood, MCT have particular advantages since they allow restriction of dietary long chain fats without limiting the intake of protein necessary for growth while providing adequate calories. In malabsorptive states, MCT have been used mostly in cystic fibrosis, where they may reduce steatorrhoea. However, the long-term growth patterns of these children are dependent on the extent and severity of their chest disease. MCT may be a useful source of calories for those with anorexia due to infection or liver disease and in babies recovering from meconium ileus. The decrease in offensive stools, flatus, and abdominal discomfort improves well-being and social acceptability which is important for many schoolchildren and adolescents. Rectal prolapse may be helped. Where there is loss of the small intestinal absorptive surface, particularly after massive small bowel resection, MCT can help to maintain weight and nutrition. They may also be a useful supplementary nutritional measure in patients severely affected with coeliac disease while awaiting response to a gluten-free diet, and in patients with regional enteritis. In children with liver disease, MCT provide a ready source of calories while avoiding the loss of fat in their stools. Infants with neonatal hepatitis or biliary atresia remain well nourished, and some older children with liver disease grow more rapidly and have fewer and less offensive stools and less abdominal discomfort. Where an abnormal number of faecal organisms colonize the small intestine (`contaminated small bowel syndrome' or `blind loop syndrome') intraluminal bile salts become deconjugated and cause steatorrhoea. A combination of antibiotic and surgical treatment is usually indicated, but MCT can be used to improve nutrition before operation and may be indicated for associated conditions, such as massive intestinal resection. MCT have also been helpful in patients with defective chylomicron formation due to a-β-lipoproteinaemia. In the congenital and less commonly encountered acquired lymphatic disorders in childhood, MCT have given encouraging results. This group includes patients with gross protein and fat loss due to intestinal lymphangiectasia and others with lymphatic anomalies at other sites. Hyperchylomicronaemia (familial fat-induced hypertriglyceridaemia) responds well to dietary treatment with MCT.
Topics: Adolescent; Anorexia Nervosa; Blind Loop Syndrome; Celiac Disease; Child; Child Nutritional Physiological Phenomena; Cystic Fibrosis; Diet Therapy; Dietary Proteins; Humans; Intestinal Obstruction; Liver Diseases; Lymphatic Diseases; Malabsorption Syndromes; Triglycerides
PubMed: 4918706
DOI: 10.1136/adc.45.242.445