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Cureus Mar 2021Interstitial obstruction in newborn infants can be caused by several factors such as malrotation, meconium plug syndrome, meconium ileus, Hirschsprung's disease, atresia...
Interstitial obstruction in newborn infants can be caused by several factors such as malrotation, meconium plug syndrome, meconium ileus, Hirschsprung's disease, atresia and stenosis. Neonates who have been diagnosed with an interstitial obstruction are in need of immediate treatment; otherwise, they can deteriorate rapidly. Surgery remains the mainstay of treatment in most cases. Pediatric gastrointestinal tumours are very rare, especially in newborn infants. Their management is usually different as compared to adults. We present the case of a newborn infant who was born with interstitial obstruction. At the 31 weeks scan, a significant dilation of the small bowel was observed and the diagnosis of interstitial obstruction was made. When born, the newborn was transferred to a specialised unit and underwent a laparotomy. The findings were consistent with a tumour causing the obstruction; the histology reported this tumour as benign lymphoid hyperplasia. Pseudolymphoma is a very rare cause of fetal interstitial obstruction, and it should be considered in the differential diagnosis.
PubMed: 33842123
DOI: 10.7759/cureus.13746 -
Genes Sep 2020The goal was to study the phenotypic manifestations of c.3844T>C (p.Trp1282Arg, W1282R) variant, a CF-causing mutation, in patients from the Russian Federation. Clinical...
The goal was to study the phenotypic manifestations of c.3844T>C (p.Trp1282Arg, W1282R) variant, a CF-causing mutation, in patients from the Russian Federation. Clinical manifestations and complications (the age at CF diagnosis, sweat test, pancreatic status, lung function, microbial infection, body mass index (BMI), the presence of meconium ileus (MI), diabetes, and severe liver disease) were compared in four groups: group 1-patients carrying c.3844T>C and severe class I or II variant in trans; group 2-3849+10kbC>T/F508del patients; group 3-F508del/F508del patients; and group 4-patients with W1282R and "mild" variant in trans. Based on the analyses, W1282R with class I or II variant in trans appears to cause at least as severe CF symptoms as F508del homozygotes as reflected in the early age of diagnosis, high sweat chloride concentration, insufficient pancreatic function, and low lung function, in contrast to 3849+10kbC-T/F508del compound heterozygotes having milder clinical phenotypes. The W1282R pathogenic variant is seemed to lead to severe disease phenotype with pancreatic insufficiency similarly to the F508del homozygous genotype.
Topics: Adolescent; Adult; Child; Child, Preschool; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Genotype; Homozygote; Humans; Infant; Mutation; Phenotype; Russia; Young Adult
PubMed: 32992607
DOI: 10.3390/genes11101137 -
Revista Espanola de Enfermedades... Jun 2023Cystic Fibrosis Liver Disease is a poorly understood entity, especially in adults, in terms of its real prevalence, natural history and diagnostic criteria, despite...
BACKGROUND
Cystic Fibrosis Liver Disease is a poorly understood entity, especially in adults, in terms of its real prevalence, natural history and diagnostic criteria, despite being the most important extrapulmonary cause of mortality. The aim was to evaluate the prevalence, characteristics and potential risk factors of liver disease in adults with cystic fibrosis, according to two diagnostic criteria accepted in the scientific literature.
METHODS
Patients were recruited in a tertiary referral hospital, and laboratory, ultrasound, non-invasive liver fibrosis tests (AST to Platelet Ratio Index; Fibrosis-4 Index) and transient elastography (Fibroscan) were performed. The proportion of patients with liver disease according to the Debray and Koh criteria were evaluated.
RESULTS
95 patients were included, 48 (50.5%) females, with a mean age of 30.4 (28.6-32.2) years. According to the Debray criteria, 6 (6.3%) patients presented liver disease. According to the Koh criteria, prevalence increased up to 8.4%, being statistically different from the 25% value described in other published series (p = 0.005). Seven (7.5%) presented ultrasonographic chronic liver disease. Eleven (13%) presented liver fibrosis according to the APRI score; 95 (100%) had a normal FIB-4 value. Mean liver stiffness value was 4.4 (4.1-4.7) kPa. FEV1 (OR=0.16, p 0.05), meconium ileus (OR=14.16, p 0.002), platelets (Pearson coefficient -0.25, p 0.05) and younger age (Pearson coefficient -0.19, p 0.05) were risk factors.
CONCLUSIONS
Prevalence and severity of liver disease in adult cystic fibrosis patients were lower than expected. Meconium ileus, platelets, age and respiratory function were confirmed as risk factors associated to cystic fibrosis liver disease.
Topics: Female; Humans; Adult; Male; Tertiary Care Centers; Cystic Fibrosis; Meconium Ileus; Liver Cirrhosis; Liver Diseases; Elasticity Imaging Techniques; Liver; Aspartate Aminotransferases
PubMed: 36353964
DOI: 10.17235/reed.2022.9289/2022 -
European Journal of Pediatric Surgery... Jan 2021With the advances of neonatology, the survival rate for "live-born periviable fetuses" weighing < 300 g, a subgroup of extremely low birth weight (BW) infants, has...
With the advances of neonatology, the survival rate for "live-born periviable fetuses" weighing < 300 g, a subgroup of extremely low birth weight (BW) infants, has improved over the past 10 years. Meconium-related ileus (MRI) represents an early postnatal hazard, and, if medical evacuation fails, a surgical challenge in such immature babies. We report the interdisciplinary management of surgically treated MRI in a newborn with a BW of 273 g. According to the worldwide database held by the University of Iowa, he is registered as the tiniest male newborn in Europe. The boy was born in the 25th gestational week by cesarean section after a triplet pregnancy with twin-twin transfusion syndrome, him being the donor. He had a BW of 273 g, whereas his brothers had a BW of 740 g and 722 g. Cardiopulmonary stabilization and ventilation were successful. He developed MRI unresponsive to medical treatment. On day 14 of life, a minilaparotomy was performed in the right lower quadrant to externalize a loop of the distal ileum in a no-touch technique. Despite the small diameter of only 2 mm, a standard loop ileostomy could be fashioned. There were no intra- or postoperative abdominal complications. Bowel function and weight gain were adequate and the ileostomy was closed electively 5 months later at a body weight of 3.5 kg. In summary, minilaparotomy and loop ileostomy placement were effective to treat surgical MRI in Europe's tiniest male newborn. With the advances of neonatology, pediatric surgery reaches new frontiers as well.
PubMed: 33680707
DOI: 10.1055/s-0040-1721406 -
International Journal of Neonatal... Oct 2022Testing immunoreactive trypsinogen (IRT) is the first step in cystic fibrosis (CF) newborn screening. While high IRT is associated with CF, some cases are missed. This...
Testing immunoreactive trypsinogen (IRT) is the first step in cystic fibrosis (CF) newborn screening. While high IRT is associated with CF, some cases are missed. This survey aimed to find factors associated with missed CF cases due to IRT levels below program cutoffs. Twenty-nine states responded to a U.S-wide survey and 13 supplied program-related data for low IRT false screen negative cases (CFFN) and CF true screen positive cases (CFTP) for analysis. Rates of missed CF cases and odds ratios were derived for each factor in CFFNs, and two CFFN subgroups, IRT above ("high") and below ("low") the CFFN median (39 ng/mL) compared to CFTPs for this entire sample set. Factors associated with "high" CFFN subgroup were Black race, higher IRT cutoff, fixed IRT cutoff, genotypes without two known CF-causing variants, and meconium ileus. Factors associated with "low" CFFN subgroup were older age at specimen collection, Saturday birth, hotter season of newborn dried blood spot collection, maximum ≥ 3 days laboratories could be closed, preterm birth, and formula feeding newborns. Lowering IRT cutoffs may reduce "high" IRT CFFNs. Addressing hospital and laboratory factors (like training staff in collection of blood spots, using insulated containers during transport and reducing consecutive days screening laboratories are closed) may reduce "low" IRT CFFNs.
PubMed: 36412584
DOI: 10.3390/ijns8040058 -
BMC Pediatrics Mar 2020Meconium peritonitis is defined as aseptic chemical inflammation caused by intrauterine bowel perforation. The underlying causes of bowel perforation include intestinal...
BACKGROUND
Meconium peritonitis is defined as aseptic chemical inflammation caused by intrauterine bowel perforation. The underlying causes of bowel perforation include intestinal atresia, midgut volvulus, intussusception, congenital bands, and meconium ileus.
CASE PRESENTATION
Siblings with prenatally diagnosed meconium peritonitis of different etiologies were found. The elder sister was born at 36 + 6 weeks gestation with a birth weight of 3110 g. She was diagnosed with meconium peritonitis caused by ileal atresia. Two years later, the younger brother was born at 34 + 3 weeks gestation with a birth weight of 2850 g. He was diagnosed with meconium peritonitis caused by midgut volvulus.
CONCLUSIONS
Among the previously reported cases of meconium peritonitis, familial occurance of meconium peritonitis is extremely rare. We present a case of prenatally diagnosed meconium peritonitis in siblings to promote further understanding of its etiology and clinical course.
Topics: Cesarean Section; Female; Humans; Infant, Newborn; Intestinal Atresia; Intestinal Volvulus; Male; Meconium; Peritonitis; Pregnancy; Siblings
PubMed: 32138710
DOI: 10.1186/s12887-020-2016-3 -
Medicine Sep 2019Advancements 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... (Comparative Study)
Comparative Study Observational Study
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 prenatal diagnoses, postnatal presentations, surgical indications, operative methods, types of MP, operative findings, associated anomalies, morbidities, patient outcomes, and survival rates were analyzed. Morbidities included postoperative adhesion ileus, bacteremia, and short bowel syndrome. We also performed subgroup analyses of the morbidity and survival rates of prenatally versus postnatally diagnosed patients, as well as inborn versus outborn neonates.Thirty-seven neonates with MP were enrolled. Of this number, 24 (64.9%) were diagnosed prenatally. Twenty-two (59.5%) were born preterm. The most common prenatal sonographic findings included fetal ascites followed by dilated bowel loops. Abdominal distention was the most frequent postnatal symptom. Thirty-four (91.9%) neonates underwent surgery, whereas 3 were managed conservatively. Volvulus of the gastrointestinal tract was the most frequent anatomic anomaly. The total morbidity and survival rates were 37.8% and 91.9%, respectively. The morbidity and survival rates did not differ significantly between prenatally and postnatally diagnosed patients (37.5% vs 33.3%, P = 1.00; 91.7% vs 92.3%, P = 1.00, respectively). Inborn and outborn patients did not differ in terms of morbidity and survival rates (27.3% vs 53.3%, P = .17; 100% vs 80.0%, P = .06, respectively).Although not statistically significant, inborn MP neonates had higher survival rates when compared with outborn MP neonates. Prompt postnatal management at tertiary centers seemed crucial.
Topics: Ascites; Dilatation, Pathologic; Early Diagnosis; Female; Humans; Infant, Newborn; Intestinal Volvulus; Intestines; Meconium; Patient Outcome Assessment; Peritonitis; Pregnancy; Retrospective Studies; Survival Rate; Time-to-Treatment; Ultrasonography, Prenatal
PubMed: 31574807
DOI: 10.1097/MD.0000000000017079 -
Cureus Dec 2022Apart from meconium ileus, amniotic fluid plug syndrome, malrotation of the gut, Hirschprung's disorder, trauma, and other rare causes, bowel atresia is one of the most...
Apart from meconium ileus, amniotic fluid plug syndrome, malrotation of the gut, Hirschprung's disorder, trauma, and other rare causes, bowel atresia is one of the most common causes of bowel obstruction in newborns. Jejunal atresia can affect multiple lengths of the bowel. The higher the level of atresia, the greater the severity. The outcome of bowel atresia related to surgical repair is favorable. In general, both mortality and morbidity are affected by affiliated medical conditions such as preterm birth, cystic fibrosis, and other congenital anomalies; the sophistication of the lesion; and surgical complications. We present the case of a one-day-old baby who had two episodes of bilious vomiting with abdominal distension within 10 minutes of birth. The baby was advised to undergo ultrasonography of the abdomen and pelvis for further evaluation, and the findings were reported.
PubMed: 36694481
DOI: 10.7759/cureus.32766 -
Journal of Cystic Fibrosis : Official... Nov 2019Meconium ileus (MI) is a risk factor for poor outcomes in cystic fibrosis (CF) patients. The aim of this study was to identify the risk factors for poor 12-month... (Observational Study)
Observational Study
BACKGROUND
Meconium ileus (MI) is a risk factor for poor outcomes in cystic fibrosis (CF) patients. The aim of this study was to identify the risk factors for poor 12-month clinical outcomes in MI-CF newborns.
METHODS
This retrospective, multicentre, observational study of MI-CF infants born 2009-2015 recorded their pre- and neonatal histories, intestinal occlusion treatments, post-surgical history, nutrition, CF diagnosis, and compared the patients with 12-month faltering growth or chronic Pseudomonas aeruginosa respiratory infection (cases) with the others (controls).
RESULTS
About 25% of the 85 patients enrolled by 13 Italian CF centres (24% premature, 18% of low birth weight) had prenatally diagnosed bowel obstruction, and 39% had complex MI. Seventy-one required surgery (the 33 with complex MI and 38 with simple MI), of whom 58 (82%) required post-surgical intensive care, including 25 (35%) needing ventilatory support. Forty-six (54%) were breastfed; exclusively parenteral nutrition was started in 52 (61%). Cholestasis was diagnosed in 21%. Thirty-one (37%) experienced negative outcomes: the only risk factors were prenatally diagnosed intestinal obstruction and a need for intensive care and oxygen therapy. The cases had significantly higher first blood immunoreactive trypsinogen (b-IRT) levels (P = .008). Logistic regression showed that the probability of having negative outcome is decreased in the absence of cholestasis (Odds Ratio = 0.125) and a need for intensive therapy (OR = 0.141), and increased by not having been breastfed (OR = 2.921).
CONCLUSIONS
High b-IRT levels, prenatally diagnosed intestinal obstruction, a severe post-surgical clinical picture and early liver disease are risk factors for negative outcomes. Breastfeeding may be protective.
Topics: Breast Feeding; Critical Care; Cystic Fibrosis; Digestive System Surgical Procedures; Female; Humans; Infant, Newborn; Intestinal Atresia; Intestinal Obstruction; Italy; Liver Diseases; Male; Meconium Ileus; Outcome and Process Assessment, Health Care; Postoperative Complications; Prenatal Diagnosis; Prognosis; Protective Factors; Risk Factors
PubMed: 31353045
DOI: 10.1016/j.jcf.2019.07.003 -
JCI Insight Apr 2024Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene, with F508del being the most prevalent mutation. The combination of...
Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene, with F508del being the most prevalent mutation. The combination of CFTR modulators (potentiator and correctors) has provided benefit to CF patients carrying the F508del mutation; however, the safety and effectiveness of in utero combination modulator therapy remains unclear. We created a F508del ferret model to test whether ivacaftor/lumacaftor (VX-770/VX-809) therapy can rescue in utero and postnatal pathologies associated with CF. Using primary intestinal organoids and air-liquid interface cultures of airway epithelia, we demonstrate that the F508del mutation in ferret CFTR results in a severe folding and trafficking defect, which can be partially restored by treatment with CFTR modulators. In utero treatment of pregnant jills with ivacaftor/lumacaftor prevented meconium ileus at birth in F508del kits and sustained postnatal treatment of CF offspring improved survival and partially protected from pancreatic insufficiency. Withdrawal of ivacaftor/lumacaftor treatment from juvenile CF ferrets reestablished pancreatic and lung diseases, with altered pulmonary mechanics. These findings suggest that in utero intervention with a combination of CFTR modulators may provide therapeutic benefits to individuals with F508del. This CFTR-F508del ferret model may be useful for testing therapies using clinically translatable endpoints.
Topics: Animals; Female; Pregnancy; Aminophenols; Aminopyridines; Benzodioxoles; Chloride Channel Agonists; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Disease Models, Animal; Drug Combinations; Ferrets; Mutation; Quinolones
PubMed: 38646935
DOI: 10.1172/jci.insight.157229