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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 -
Cureus Apr 2022Background and objective Intestinal perforations and necrotizing enterocolitis (NEC) requiring the formation of temporary intestinal stoma are prevalent conditions...
Background and objective Intestinal perforations and necrotizing enterocolitis (NEC) requiring the formation of temporary intestinal stoma are prevalent conditions worldwide. This prospective study aimed to address the following research question: does sutureless enterostomy lead to fewer complications compared to conventional enterostomy in critically sick surgical neonates who need a stoma? Methods We conducted a randomized control trial (TCTR20211011004) from October 2020 to October 2021. A total of 120 patients were randomized to the following two study groups: Group A: conventional sutured enterostomy; Group B: sutureless enterostomy, with 60 patients in each group. The operative time, complications, and mortality were compared between the two groups using the chi-squared test. Results The groups were comparable with respect to the mean age at presentation, gestational age, weight, and sex ratio. In Group A, the main operative diagnoses were NEC in 22 patients, pneumoperitoneum in 25, complicated meconium ileus in nine, bowel atresia in three, and midgut volvulus in one; while in Group B, 25 patients had NEC, 20 had pneumoperitoneum, eight had meconium ileus, two had bowel atresia, and five had midgut volvulus. The mean operative time (93.5 ± 28.71 minutes) was significantly longer in the conventional group compared to the sutureless group (52.08 ± 18.53 minutes). Oral feed was started significantly earlier in the sutureless stoma group. Mortality was 43.3% in Group A and 46.6% in Group B. Complication rate was significantly higher in sutured stoma group. Conclusion The management of critically sick neonates, especially those with NEC and intestinal perforation, still presents a surgical dilemma. Based on our findings, the sutureless enterostomy may reduce operative time and complications in critically sick neonates.
PubMed: 35573560
DOI: 10.7759/cureus.24057 -
Arquivos Brasileiros de Cirurgia... 2020Meconium ileus is a common cause of intestinal obstruction in neonates that different surgical methods have been described for its management such as Santulli and loop... (Comparative Study)
Comparative Study
BACKGROUND
Meconium ileus is a common cause of intestinal obstruction in neonates that different surgical methods have been described for its management such as Santulli and loop ileostomy.
AIM
To evaluate and compare clinical efficacy of Santulli and loop ileostomy in neonates with meconium ileus.
METHODS
In this retrospective study, 58 patients with meconium ileus were evaluated. After analyses of hospital records, 53 patients with completed hospital records were included. Demographic information, surgery parameters and postoperative complications were extracted from the hospital records or calling parents.
RESULTS
Skin excoriation (21.4% vs. 84%, p<0.001), ostomy prolapsed (0 vs. 28%, p=0.003), and surgical site infection (7.1% vs. 28%, p=0.044) was significantly lower in Santulli ileostomy group. Furthermore, ileostomy output in first week (70.53±15.11 ml vs. 144.6±19.99 ml, p<0.001) and in 4th week (2.14±4.98 ml vs. 18.4±17.95 ml, p<0.001) was significantly lower in Santulli ileostomy group as compared to loop ileostomy group. Finally, hospital stay in Santulli ileostomy group was 12±2.34 and in loop ileostomy 14.24±1.47 days (p<0.001).
CONCLUSION
Santulli ileostomy is better than loop ileostomy due to significant less frequency of surgical site infection, skin excoriation, prolapse of ostomy, ileostomy volume output and hospitalization time.
Topics: Humans; Ileostomy; Infant, Newborn; Intestinal Obstruction; Length of Stay; Meconium Ileus; Postoperative Complications; Retrospective Studies
PubMed: 33331433
DOI: 10.1590/0102-672020200003e1538 -
Arquivos Brasileiros de Cirurgia... 2020Meconium ileus is a common cause of intestinal obstruction in neonates that different surgical methods have been described for its management such as Santulli and loop... (Comparative Study)
Comparative Study
BACKGROUND
Meconium ileus is a common cause of intestinal obstruction in neonates that different surgical methods have been described for its management such as Santulli and loop ileostomy.
AIM
To evaluate and compare clinical efficacy of Santulli and loop ileostomy in neonates with meconium ileus.
METHODS
In this retrospective study, 58 patients with meconium ileus were evaluated. After analyses of hospital records, 53 patients with completed hospital records were included. Demographic information, surgery parameters and postoperative complications were extracted from the hospital records or calling parents.
RESULTS
Skin excoriation (21.4% vs. 84%, p<0.001), ostomy prolapsed (0 vs. 28%, p=0.003), and surgical site infection (7.1% vs. 28%, p=0.044) was significantly lower in Santulli ileostomy group. Furthermore, ileostomy output in first week (70.53±15.11 ml vs. 144.6±19.99 ml, p<0.001) and in 4th week (2.14±4.98 ml vs. 18.4±17.95 ml, p<0.001) was significantly lower in Santulli ileostomy group as compared to loop ileostomy group. Finally, hospital stay in Santulli ileostomy group was 12±2.34 and in loop ileostomy 14.24±1.47 days (p<0.001).
CONCLUSION
Santulli ileostomy is better than loop ileostomy due to significant less frequency of surgical site infection, skin excoriation, prolapse of ostomy, ileostomy volume output and hospitalization time.
Topics: Female; Humans; Ileostomy; Infant, Newborn; Intestinal Obstruction; Length of Stay; Male; Meconium Ileus; Postoperative Complications; Retrospective Studies
PubMed: 33206844
DOI: 10.1590/0102-672020190001e1485 -
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 -
Arquivos Brasileiros de Cirurgia... 2023Bishop-Koop ileostomy has been widely used in pediatric patients with the intention of including as much bowel as possible in the intestinal transit early in the... (Review)
Review
BACKGROUND
Bishop-Koop ileostomy has been widely used in pediatric patients with the intention of including as much bowel as possible in the intestinal transit early in the management of children with meconium ileus and intestinal atresia. In recent years, we have been using it as an alternative to test the distal bowel function before closure of a previously constructed ostomy in selected children with questionable distal bowel motility.
AIMS
The aim of this study was to present our experience with this alternative use of the Bishop-Koop ostomy.
METHODS
This is a cross-sectional retrospective review of hospital records, combined with a comprehensive literature review.
RESULTS
Seven children were included: five had suspected aganglionosis, one had gastroschisis complicated with ileal atresia, and one had a colonic stricture secondary to necrotizing enterocolitis. In this short series of patients, motility of the distal bowel was correctly assessed in six patients and partially correctly assessed in one patient. One patient did not pass stools per anus after the Bishop-Koop, and he was later confirmed to have Hirschsprung disease. Four patients resumed normal evacuation pattern after closure of the Bishop-Koop. One patient had a Bishop-Koop colostomy because of recurrent enterocolitis after a transanal pull-through. Although he evacuated normally while having the colostomy, the diarrhea recurred after the ostomy was closed. An additional patient, with a severe behavioral problem, did not evacuate per anus after her colostomy was transformed in a Bishop-Koop-type ostomy, despite the apparent presence of normal ganglia in the bowel wall.
CONCLUSIONS
Data from the present series allow us to affirm that Bishop-Koop-type ostomy is a safe and efficient procedure that can be used to assess distal bowel function before a definitive transit reconstruction, in children with uncertain motility issues.
Topics: Humans; Male; Child; Female; Cross-Sectional Studies; Neoplasm Recurrence, Local; Ostomy; Intestinal Atresia; Intestinal Obstruction; Retrospective Studies
PubMed: 36946847
DOI: 10.1590/0102-672020230002e1722 -
Neonatology 2022We experienced an increased incidence of meconium-related ileus (MRI) in extremely premature infants (EPIs) while adopting the antenatal magnesium sulfate (MgSO4)...
INTRODUCTION
We experienced an increased incidence of meconium-related ileus (MRI) in extremely premature infants (EPIs) while adopting the antenatal magnesium sulfate (MgSO4) protocol for fetal neuroprotection in our neonatal intensive care unit. This study aimed to test whether antenatal MgSO4 use was associated with increased risk of MRI in EPIs.
METHODS
The incidences of complicated MRI requiring aggressive enema or surgical intervention and other intestinal complications were compared among period 1 (January 2012-December 2013, n = 79), before adoption of the antenatal MgSO4 protocol for fetal neuroprotection; period 2 (January 2014-March 2016, n = 72), when the protocol was adopted; and period 3 (April 2016-September 2018, n = 75), when the protocol was temporarily withdrawn due to concern regarding intestinal complications in EPIs.
RESULTS
Despite similar baseline clinical characteristics among infants across the study periods, the MRI and MRI with surgical treatment incidences were higher in period 2 than those in periods 1 and 3 (13% vs. 8% and 6%, p = 0.391, and 11% vs. 0% and 1%, p = 0.001, respectively). In multivariable analysis, exposure to antenatal MgSO4 independently increased the risk of MRI (adjusted odds ratio, 3.8; 95% confidence interval, 1.4, 10.6).
CONCLUSION
Antenatal MgSO4 may increase the risk of MRI, frequently requiring surgical intervention, in EPIs with a gestational age of 25 weeks or less.
Topics: Female; Gestational Age; Humans; Ileus; Infant; Infant, Extremely Premature; Infant, Newborn; Magnesium Sulfate; Meconium; Pregnancy
PubMed: 35016173
DOI: 10.1159/000520452 -
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 -
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 -
Cellular and Molecular Life Sciences :... Sep 2020The solute carrier family 6 member 14 (SLC6A14) protein imports and concentrates all neutral amino acids as well as the two cationic acids lysine and arginine into the... (Review)
Review
The solute carrier family 6 member 14 (SLC6A14) protein imports and concentrates all neutral amino acids as well as the two cationic acids lysine and arginine into the cytoplasm of different cell types. Primarily described as involved in several cancer and colonic diseases physiopathological mechanisms, the SLC6A14 gene has been more recently identified as a genetic modifier of cystic fibrosis (CF) disease severity. It was indeed shown to have a pleiotropic effect, modulating meconium ileus occurrence, lung disease severity, and precocity of P. aeruginosa airway infection. The biological mechanisms explaining the impact of SLC6A14 on intestinal and lung phenotypes of CF patients are starting to be elucidated. This review focuses on SLC6A14 in lung and gastrointestinal physiology and physiopathology, especially its involvement in the pathophysiology of CF disease.
Topics: Amino Acid Transport Systems; Colonic Diseases; Cystic Fibrosis; Gastrointestinal Tract; Genetic Variation; Humans; Linkage Disequilibrium; Lung; Neoplasms; Severity of Illness Index
PubMed: 32166393
DOI: 10.1007/s00018-020-03487-x