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AJP Reports Jan 2022Today, more infants weighing less than or equal to 300 g are born, and they survive because of the improvements in neonatal care and treatment. However, their detailed...
Today, more infants weighing less than or equal to 300 g are born, and they survive because of the improvements in neonatal care and treatment. However, their detailed clinical course and neonatal intensive care unit management remain unknown due to their low survival rate and dearth of reports. A male infant was born at 24 weeks and 5 days of gestation and weighed 258 g. The infant received 72 days of invasive and 92 days of noninvasive respiratory support, including high-frequency oscillatory ventilation with volume guarantee and noninvasive neurally adjusted ventilatory assist. Meconium-related ileus was safely treated using diatrizoate. Although the infant was diagnosed with severe bronchopulmonary dysplasia and retinopathy of prematurity requiring laser photocoagulation, he had no other severe complications. He was discharged 201 days postdelivery (3 months of corrected age) with a weight of 3.396 kg. Although managing infants weighing less than or equal to 300 g is difficult, our experience shows that it is possible by combining traditional and modern management methods. The management of such infants requires an understanding of the expected difficulties and adaptation of existing methods to their management. The management techniques described here should help improve their survival and long-term prognosis.
PubMed: 35154903
DOI: 10.1055/a-1678-3755 -
Journal of Pediatric Surgery Sep 2022Adhesions following abdominal surgery can cause small bowel obstruction (SBO) necessitating surgery. Whilst some studies have addressed SBO in children, the incidence of...
Adhesive small bowel obstruction following abdominal surgery in young children (≤ 3 years): A retrospective analysis of incidence and risk factors using multivariate cox regression.
BACKGROUND
Adhesions following abdominal surgery can cause small bowel obstruction (SBO) necessitating surgery. Whilst some studies have addressed SBO in children, the incidence of SBO, the diseases that are of increased risk as well as risk factors in young children remain unclear. Therefore, this study aims to determine; (1) the general incidence of SBO in young children, (2) which diseases entail highest incidence of SBO and (3) risk factors for SBO in young children.
STUDY DESIGN
Young children (≤ 3 years of age) who underwent abdominal surgery in our tertiary referral centre between 1998-2018 were retrospectively included. Both general incidence and incidence per disease of SBO were determined. Independent risk factors for SBO were identified using cox-regression.
RESULTS
The incidence of SBO was 5% (N = 88/1931) in our cohort. Five of the SBOs developed following laparoscopic treatment. Patients treated for gastroschisis (17%,N = 9/53), necrotizing enterocolitis (8%,N = 15/188) and intestinal atresia (7%,N = 13/177) were at high risk of experiencing SBO. Diaphragmatic hernia (28%,N = 7/25) and meconium ileus (28%,N = 7/25) also showed high SBO proportions. Having a history of stoma (HR:3.2, 95%-CI:2.0-5.2), undergoing emergency surgery (HR:2.2, 95%-CI:1.3-3.7) and postoperative infections (HR:1.9, 95%-CI:1.2-3.1) were general risk factors for the development of SBO.
CONCLUSION
The incidence of SBO in young children seems higher than what has previously been reported in older children, which is why they should be studied separately. The incidence of SBO differs between diseases. Having a history of a stoma, emergency surgery and postoperative infections were independent risk factors for SBO development. Although less at risk, SBOs do develop after laparoscopies, which is why they should be included in more long-term follow-up studies.
LEVEL OF EVIDENCE
II.
Topics: Adhesives; Child; Child, Preschool; Humans; Incidence; Infant, Newborn; Intestinal Obstruction; Laparoscopy; Postoperative Complications; Retrospective Studies; Risk Factors; Tissue Adhesions
PubMed: 35115170
DOI: 10.1016/j.jpedsurg.2021.12.029 -
Respiratory Medicine Feb 2022A1006E is a Cystic Fibrosis (CF) mutation that is still not widely known. We report phenotypic features and geographic distribution of the largest cohort of people with...
BACKGROUND
A1006E is a Cystic Fibrosis (CF) mutation that is still not widely known. We report phenotypic features and geographic distribution of the largest cohort of people with CF (pwCF) carrying A1006E to date.
METHODS
Study of European pwCF carrying A1006E mutation, included in the European CF Society Patient Registry (ECFSPR). Genotype, ancestries and all variables recorded were compared to a cohort of F508del/F508del patients. Rate of decline in percentage-of-predicted FEV (ppFEV) was also analyzed using the 2010-2017 ECFSPR.
RESULTS
44 pwCF carrying A1006E were reported (59% males), median age 33 years old (3-58), 54.5% Spanish and 40.9% Italian, most with ancestry in Murcia (Spain) and Lazio (Italy) regions. Compared to F508del homozygous, A1006E-pwCF were significantly older (75% vs. 52.5% ≥ 18 years old) and diagnosed at later median age (6.98 vs. 0.29 years); showed lower rates of meconium ileus (2.33% vs. 17.7%), pancreatic insufficiency (27.91% vs. 99.26%), diabetes (2.33% vs. 21.98%), liver disease (6.98% vs. 36.72%) and Pseudomonas aeruginosa chronic colonization (30.95% vs. 42.51%); and presented better nutrition (BMI z-score 0.44 vs. -0.43) and ppFEV (90.8% vs. 78.6%), with 18.9% (most >40 years old) having a ppFEV<70%. Additional ppFEV decline (0.96% per year) was attributed to F508del/F508del genotype (p = 0.0007). None died or needed organ transplantation during the study period.
CONCLUSIONS
A1006E-pwCF are mainly of Western Mediterranean Spanish and Italian descent. When compared with F508del/F508del-pwCF, they usually have a milder form of the disease, associated with pancreatic sufficiency and slower FEV decline. However, some will develop progressive respiratory impairment during adulthood.
Topics: Adult; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Female; Homozygote; Humans; Male; Mutation; Phenotype
PubMed: 35032736
DOI: 10.1016/j.rmed.2022.106736 -
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 -
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 -
Clinical complications in children with false-negative results in cystic fibrosis newborn screening.Jornal de Pediatria 2022To present signs and symptoms and clinical course in cystic fibrosis patients with false-negative newborn screening (CF NBS).
OBJECTIVE
To present signs and symptoms and clinical course in cystic fibrosis patients with false-negative newborn screening (CF NBS).
MATERIALS AND METHODS
All children presented in this paper were covered by CF NBS. The group of 1.869.246 newborns was screened in the Institute of Mother and Child in Warsaw within a period of 01.01.1999 - 31.05.2019. Screening protocols evolved over time from IRT/IRT to IRT/DNA/EGA.
RESULTS
The authors identified 11 patients with false-negative NBS, in whom CF was diagnosed based on clinical symptoms or the examination of siblings with positive CF NBS. In the study group, the diagnosis was made significantly later in comparison to positive CF NBS patients ranging from 2 months to 15 years of age. CF NBS strategy does not significantly affect the sensitivity of the screening.
CONCLUSION
In the presence of clinical symptoms, additional diagnostics must be implemented, in spite of the negative screening results. At first, the sweat test should be conducted, followed by a DNA analysis of the most common mutations in the given population. The diagnostic process requires searching for CFTR mutations not typically associated with a high chloride concentration in sweat. Repetition of sweat chloride concentration enables the diagnosis in children whose initial chloride values in sweat are borderline, and no CF-causing mutations are detected. In strong clinical indications, the extension of DNA analysis (EGA) is recommended in order to identify rare CF variants. In children with meconium ileus, genetic analysis is mandatory.
Topics: Child; Chlorides; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; DNA; Humans; Infant, Newborn; Neonatal Screening
PubMed: 34953776
DOI: 10.1016/j.jped.2021.11.007 -
Journal of Cystic Fibrosis : Official... May 2022Previous studies suggest that PAP-based CF protocols are suitable for newborn screening (NBS) for cystic fibrosis (CF) when newborns designated as CFSPID should not be...
BACKGROUND
Previous studies suggest that PAP-based CF protocols are suitable for newborn screening (NBS) for cystic fibrosis (CF) when newborns designated as CFSPID should not be detected. However, there are still discussions about the performance of IRT/PAP algorithms. We present the final results of a pilot study evaluating a IRT/PAP protocol with an IRT-dependent safety net (SN) conducted from 2008 to 2016 in southwestern Germany on nearly 500,000 newborns.
METHODS
To achieve reliable data, all newborns were screened using both the PAP-based and a DNA-based CFNBS algorithm. PAP quantification and genetic analysis of the four most common CFTR mutations in Germany were performed in all newborns with IRT≥99.0 percentile. NBS was rated positive if either PAP was ≥1.6 µg/l and/or at least one CFTR mutation was detected. In addition, an IRT-dependent SN resulted in positive rating for both protocols if IRT was ≥99.9 percentile. To evaluate the IRT/PAP protocol, its performance was compared to that of the IRT/DNA protocol.
RESULTS
The IRT/PAP protocol with IRT-based SN used in the study achieved a sensitivity of 94%, if false-negative detected neonates with meconium ileus and those designated as CFSPID were excluded from analysis. CF/CFSPID ratio was 92. However, PPV of the IRT/PAP+SN protocol was with 10.3% very low.
CONCLUSIONS
PAP-based CFNBS protocols can be used, if less detection of CFSPID is desired. The IRT/PAP protocol with IRT-dependent SN evaluated here achieved adequate sensitivity but should probably be used in combination with a third-tier test to also achieve an acceptable PPV.
Topics: Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Germany; Humans; Infant, Newborn; Neonatal Screening; Pancreatitis-Associated Proteins; Pilot Projects; Sensitivity and Specificity; Trypsinogen
PubMed: 34764021
DOI: 10.1016/j.jcf.2021.10.007 -
Archives of Endocrinology and Metabolism Oct 2021Patients with cystic fibrosis (CF) have a high incidence of pubertal and growth delay. In girls with CF, pubertal delay has an important psychological impact. Still,...
OBJECTIVE
Patients with cystic fibrosis (CF) have a high incidence of pubertal and growth delay. In girls with CF, pubertal delay has an important psychological impact. Still, only a few studies have explored the occurrence of pubertal delay in girls with CF. The aims of this study were to compare the pubertal development of girls with CF compared with healthy controls regarding Tanner staging and pelvic ultrasound and, in girls with CF, correlate the findings with those of spirometry, body mass index, Shwachman-Kulczycki score (SKS), and genotyping.
METHODS
This was a cross-sectional, case-control study including 35 girls with CF aged 6-17 years and following up at the Pediatric Pulmonology Outpatient Clinic of a tertiary hospital. These patients were compared with 59 healthy controls who had undergone pelvic ultrasound as part of another study conducted by the same group. Girls with CF were consecutively enrolled in the study during their annual routine check-up visit. Data collected in the CF group included spirometry and anthropometric results, SKS values, bone age, occurrence of current cystic fibrosis-related diabetes (CFRD) and colonization, history of meconium ileus, genotype, ultrasound parameters, and Tanner stage.
RESULTS
Pelvic ultrasound findings and Tanner stage reflected less pubertal development in girls with CF compared with healthy controls. Pubertal stage in patients with CF who presented CFRD (3.17 ± 1.16), had chronic colonization by (3.10 ± 1.10), or were homozygous for the F508del mutation (1.91 ± 1.30) was more delayed than in controls (3.41 ± 1.41). Tanner stage correlated with age at menarche, bone age, and anthropometric and ultrasound data.
CONCLUSION
Girls with CF presented a delay in pubertal development evaluated by Tanner stage and ultrasound parameters, which was more evident in the presence of comorbidities.
Topics: Case-Control Studies; Cross-Sectional Studies; Cystic Fibrosis; Female; Humans; Menarche; Puberty; Ultrasonography
PubMed: 34591408
DOI: 10.20945/2359-3997000000404 -
Journal of Cystic Fibrosis : Official... Mar 2022To assess cancer incidence in the UK cystic fibrosis (CF) population and determine the associated risk factors, we undertook a nested case-control study of patients...
To assess cancer incidence in the UK cystic fibrosis (CF) population and determine the associated risk factors, we undertook a nested case-control study of patients with CF, registered with the UK CF Registry. Each case with a first reported cancer between 1999 and 2017 was matched with up to 4 controls: by age (±2-years) and year of cancer diagnosis. Conditional logistic regressions were adjusted for sex, lung function (FEV%), CF related diabetes (CFRD), F508del status, transplant status, DIOS, gastro-oesophageal reflux disease, meconium ileus, Pseudomonas aeruginosa infection, pancreatic insufficiency, proton pump inhibitor (PPI) use, IV antibiotic days and BMI. Results: From 12,886 registered patients, 146 (1.1%) cases of malignancy were identified with 14.3% of cases occurring post solid organ transplant. Site of primary cancer was available for 98 patients: 22% were gastro-intestinal in origin (77% lower, 23% upper GI), 13% skin, 13% breast and 11% lymphomas/leukaemia. In univariable analysis, transplantation increased the odds of reporting any cancer by 2.46 times (95%CI: 1.3-4.6). CFRD also increased the odds of reporting any cancer (OR 2.35; CI: 1.37-4.0) and PPI use (OR 2.0; CI 1.28-3.19). In the multivariable models significant associations with CFRD and transplant remained, while PA infection, PPI use and being overweight showed increased, but statistically insignificant risks. The incidence of GI cancer was strongly associated with CFRD (OR=4.04; 1.47-11.1). Conclusions: We observed a high incidence of lower GI cancers in our cohort which was significantly affected by the presence of CFRD. Screening for gastrointestinal cancers could benefit patients at higher risk.
Topics: Case-Control Studies; Cystic Fibrosis; Humans; Incidence; Neoplasms; Risk Factors; United Kingdom
PubMed: 34348871
DOI: 10.1016/j.jcf.2021.07.004 -
Wiener Klinische Wochenschrift Jul 2021To evaluate gastrointestinal tract (GIT) perforations in very low birth weight infants and the effects on neurodevelopmental outcome.
PURPOSE
To evaluate gastrointestinal tract (GIT) perforations in very low birth weight infants and the effects on neurodevelopmental outcome.
METHODS
Between 2000 and 2017 all cases with GIT perforation were analyzed regarding causes, associated morbidities and neurodevelopmental outcome and compared with matched (gestational age, birth weight, gender, year of birth) by 1:2 controls.
RESULTS
The incidence of GIT perforation was 2.0% (n = 38/1878). Diagnoses associated with GIT were meconium obstruction of prematurity (MOP,n = 19/50%), spontaneous intestinal perforation (SIP, n = 7/18%), necrotizing enterocolitis (NEC, n = 6/16%), iatrogenic perforation (n = 3/8%), volvulus (n = 2/5%) and meconium ileus (n = 1/3%). The NEC-associated perforations occurred later compared to those associated with MOP and SIP (median 8 days and 6 days vs. 17 days, p = 0.001 and 0.023, respectively) and main localization was the terminal ileum (84%). Cases had higher rates of late onset sepsis (55% vs. 24%, p = 0.003), longer duration of mechanical ventilation (median 30 days vs 18 days, p = 0.013) and longer stays at the hospital (median 122 days vs 83 days, p < 0.001); mortality rates did not differ. The 2‑year neurodevelopment follow-up revealed no differences between groups (normal development 49% vs. 40%).
CONCLUSION
Despite increased morbidities preterm infants with GIT perforation did not have a higher mortality rate and groups did not differ regarding neurodevelopmental outcome at the corrected for prematurity age of 2 years.
Topics: Child, Preschool; Gastrointestinal Tract; Humans; Infant; Infant, Newborn; Infant, Premature; Infant, Premature, Diseases; Infant, Very Low Birth Weight; Intestinal Perforation; Retrospective Studies
PubMed: 34110498
DOI: 10.1007/s00508-021-01886-z