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Revista Paulista de Pediatria : Orgao... 2023To describe the incidence and to analyze risk factors associated with cholestasis in neonates with gastroschisis.
OBJECTIVE
To describe the incidence and to analyze risk factors associated with cholestasis in neonates with gastroschisis.
METHODS
This is a retrospective cohort study in a tertiary single center analyzing 181 newborns with gastroschisis between 2009 and 2020. The following risk factors associated with cholestasis were analyzed: gestational age, birth weight, type of gastroschisis, silo closure or immediate closure, days of parenteral nutrition, type of lipid emulsion, days of fasting, days to reach a full diet, days with central venous catheter, presence of infections, and outcomes.
RESULTS
Among the 176 patients evaluated, 41 (23.3%) evolved with cholestasis. In the univariate analysis, low birth weight (p=0.023), prematurity (p<0.001), lipid emulsion with medium-chain triglycerides and long-chain triglycerides (p=0.001) and death (p<0.001) were associated with cholestasis. In the multivariate analysis, patients who received lipid emulsion with fish oil instead of medium chain triglycerides/long chain triglycerides (MCT/LCT) emulsion had a lower risk of cholestasis.
CONCLUSIONS
Our study shows that lipid emulsion with fish oil is associated with a lower risk of cholestasis in neonates with gastroschisis. However, this is a retrospective study and a prospective study should be performed to confirm the results.
Topics: Humans; Infant, Newborn; Birth Weight; Retrospective Studies; Emulsions; Gastroschisis; Prospective Studies; Soybean Oil; Fish Oils; Cholestasis; Triglycerides
PubMed: 37436246
DOI: 10.1590/1984-0462/2024/42/2022152 -
Zhonghua Yi Xue Yi Chuan Xue Za Zhi =... Aug 2023To analyze the clinical and genetic characteristics of an infant with craniosynostosis. (Review)
Review
OBJECTIVE
To analyze the clinical and genetic characteristics of an infant with craniosynostosis.
METHODS
An infant who was admitted to Wuhan Children's Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology in April 2021 due to widening of the lateral ventricles for over a month was selected as the study subject. Clinical data of the patient was collected. Peripheral blood samples were collected from the infant and her parents for chromosomal karyotyping and whole exome sequencing. Candidate variant was verified by Sanger sequencing and bioinformatic analysis. Relevant literature was retrieved from the PubMed, Wanfang and CNKI databases (up to December 2021) by using key words including ERF gene, craniosynostosis, ERF mutation, craniosynostosis and ERF-related craniosynostosis.
RESULTS
The infant, a 1-month-and-16-day-old female, was found to have sagittal synostosis by cranial X-ray radiography. Genetic testing revealed that she has harbored a heterozygous c.787C>T (p.Q263*) variant of the ERF gene, which was not found in either parent. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted as pathogenic (PVS1+PS2+PM2_Supporting). In total 63 relevant cases were retrieved from the database, and a total of 64 individuals were analyzed by genetic testing. Most of the cases were sporadic and males. Multiple cranial sutures (including at least two of the sagittal suture, coronal suture, lambdoid suture, and frontal suture) were involved in 45.45% of the cases, and those with sagittal suture closure only have accounted for 20.00%. The main clinical manifestations have included hypertelorism, exophthalmos, development delay, malar dysplasia, etc. Chiari type 1 malformation may present in some patients. Variants of the ERF gene have mainly included splicing and deletional variants, and there was a strong genetic heterogeneity among the infants and their pedigrees.
CONCLUSION
The c.787C>T (p.Q263*) variant of the ERF gene probably underlay the craniosynostosis of this infant. Above finding has enriched the phenotype ~ genotype spectrum of the ERF gene.
Topics: Female; Humans; Cranial Sutures; Craniosynostoses; Genetic Testing; Mutation; Repressor Proteins; Infant
PubMed: 37532503
DOI: 10.3760/cma.j.cn511374-20220815-00548 -
Eye (London, England) Oct 2023Retinopathy of prematurity is an increasingly important cause of blindness in children in low- and middle-income countries. Timely screening and treatment greatly reduce...
BACKGROUND AND OBJECTIVES
Retinopathy of prematurity is an increasingly important cause of blindness in children in low- and middle-income countries. Timely screening and treatment greatly reduce blindness. This study assessed the impact of the COVID-19 pandemic on ROP services in low- and middle-income countries.
METHODS
An online survey with closed and open-ended questions in Microsoft Teams was sent to 304 ophthalmologists providing screening, treatment and/or vitreoretinal services (January 15 to March 12 2021). Categories were used to report impact on services. 28 participants were purposively selected for interview.
RESULTS
184/201 completed forms from 32 countries were received. Two thirds of participants worked in government facilities and 45.6% were paediatric ophthalmologists. A moderate to severe impact was reported by 13% for screening, 9% for treatment and 16% for vitreoretinal surgery with some variation between government, private and not-for-profit sectors. 22% thought services would take a year to recover. Fifteen ophthalmologists from 12 countries were interviewed. Many reported fewer neonatal admissions, and several reported more ROP blind infants once restrictions lifted. Themes associated with services continuing included limited lockdown, autonomy and flexibility, commitment, advocacy and technology. Themes associated with a negative impact include fear and panic, closure of facilities, COVID infection or quarantining of health workers and parents, lack of transport and exacerbation of poverty.
CONCLUSIONS
The COVID pandemic had a very variable impact on the provision of ROP services. In some countries where the impact was great, more infants may have become blind from ROP. Lessons can be learnt for planning pandemic preparedness.
PubMed: 37880450
DOI: 10.1038/s41433-023-02784-6 -
Nan Fang Yi Ke Da Xue Xue Bao = Journal... Nov 2023To compare the outcomes and complications of open versus closed reduction and internal fixation for Delbet type Ⅱ and Ⅲ hip fractures in children and adolescents.
OBJECTIVE
To compare the outcomes and complications of open versus closed reduction and internal fixation for Delbet type Ⅱ and Ⅲ hip fractures in children and adolescents.
METHODS
We retrospectively analyzed the data of 42 patients with Delbet type Ⅱ (22 cases) and Ⅲ (20 cases) hip fractures (including 24 male and 18 female patients with a mean age of 8.19± 3.23 years, range 2-15 years) admitted in the Fifth and Third Affiliated Hospital of Southern Medical University from January, 2013 to January, 2022. Nineteen of the patients received closed and 23 underwent open reduction and internal fixation. The operation time, postoperative healing time, and Ratliff standard hip function results were compared between the two groups, and the incidences of such complications as premature epiphyseal closure and femoral head necrosis were analyzed.
RESULTS
All the patients were followed up for 13-84 months (mean 36.04±8.23 months). The operation time of closed reduction and internal fixation was significantly shorter than that of open surgery (68.23±24.68 119.71±32.75 min, < 0.05). All the patients showed good fracture healing after the operations with similar healing time between the two groups (3.32±0.31 3.18±0.20 months, > 0.05). The rate of excellent and good hip joint function was 90.48% in the overall patients and showed no significant difference between the two groups (17/19 21/23, > 0.05). The incidences of premature epiphyseal closure (3/19 in closed 4/23 in open reduction group, > 0.05) and femoral head necrosis (2/19 1/23, > 0.05) were comparable between the two groups.
CONCLUSIONS
In children and adolescents, open reduction can achieve definite surgical effect for Delbet type Ⅱ and Ⅲ hip fractures, but closed reduction and internal fixation are recommended when anatomic reduction can be achieved. Premature epiphyseal closure and femoral head necrosis are common and serious complications of these fractures.
Topics: Child; Humans; Male; Female; Adolescent; Child, Preschool; Retrospective Studies; Femur Head Necrosis; Femoral Neck Fractures; Treatment Outcome; Hip Fractures; Fracture Fixation, Internal
PubMed: 38081617
DOI: 10.12122/j.issn.1673-4254.2023.11.19 -
Children (Basel, Switzerland) Jul 2023Omitting the early closure of the cranial sutures in newly born children is not an uncommon practice. We describe the natural history of several unrelated children and...
BACKGROUND
Omitting the early closure of the cranial sutures in newly born children is not an uncommon practice. We describe the natural history of several unrelated children and adults from two unrelated families. These children were born with variable clinical manifestations: craniofacial asymmetry, ocular proptosis, floppiness, and progressive deceleration in cognitive development. None of these children underwent a cranial sutures assessment. False diagnoses of positional plagiocephaly, neonatal thyrotoxicosis, congenital muscular atrophy, and hydrocephalus were given to the parents. This sort of malpractice was the reason behind a sequence of devastating pathological events that occurred in the lifetime of these children and adults.
MATERIAL AND METHODS
This was a multigenerational study of two unrelated families. In total, we studied three children (aged 7-19 years) and three adults (aged 40-52 years) from two families. The children from the first family were referred to our departments because of pre-pubertal scoliosis, kyphoscoliosis, and early-onset osteoarthritis. Reading the clinical histories of these children signified apparent clinical misconceptions. For instance, craniofacial asymmetry was misinterpreted as positional plagiocephaly and treated by means of helmet molding therapy. Ocular proptosis was given the false diagnosis of neonatal thyrotoxicosis. Floppiness (hypotonia) was misdiagnosed as congenital muscular dystrophy. The index case from the second family showed progressive deceleration in his cognitive development, associated with signs of increased intracranial pressure. The only diagnosis was Dandy-Walker malformation. We documented every patient in accordance with the clinical and radiological phenotypic characterizations. The genotype characterization followed accordingly.
RESULTS
All patients in family (I) manifested a phenotype consistent to a certain extent with the clinical phenotype of Shprintzen-Goldberg syndrome (SGS), though the intensity of spine deformities was greater than has been described in the literature. The second family showed a constellation of Marfanoid habitus, craniosynostosis, increased intracranial pressure, hydrocephalus, Dandy-Walker malformation, seizures, and intellectual disability. The overall clinical phenotype was consistent but not fully diagnostic of craniosynostosis-Dandy-Walker-malformation hydrocephalus syndrome. The early closure of the sutures was totally different from one patient to another, including the premature closure of the metopic, coronal, squamosal, and sagittal sutures. One patient from family (II) underwent the implementation of a shunt system at the age of 3 years, unfortunately passing over the pre-existing craniosynostosis. In addition to skeletal deformities, a history of seizures and severe intellectual disability was recorded. The proband underwent chromosomal karyotyping, the FISH test, and whole-exome sequencing.
CONCLUSION
The purpose of this study was fivefold. Firstly, to gain a meticulous understanding in order to differentiate between positional plagiocephaly, hypotonia, and congenital exophthalmos and their connections to abnormal craniofacial contours was and still is our first and foremost concern. Secondly, we aimed to characterize craniosynostosis, seizures, intellectual disabilities, and hydrocephalus associated with Marfanoid habitus, which were clearly demonstrated in our patients. Thirdly, we aimed to address the imperative for interpretations of clinical and radiological phenotypes and relate these tools to etiological understanding, which is an essential basis for diagnosis in the majority of long-term pediatric admissions. Fourthly, we aimed to assess the impacts of the missed early closure by the pediatricians and pediatric neurologists, which added a heavy pathological burden on these patients and their families. Fifthly, we aimed to identify whether early and diligent recognition can assist in cranial vault remodeling via surgical intervention to halt premature cranial suture fusions and can possibly alter the devastating course and the complications of the synostosed sutures.
PubMed: 37508737
DOI: 10.3390/children10071240 -
Medeniyet Medical Journal Sep 2023Although the role of thyroid hormones in functional and anatomical closure of patent ductus arteriosus (PDA) is well known, their effects on the medical or surgical...
OBJECTIVE
Although the role of thyroid hormones in functional and anatomical closure of patent ductus arteriosus (PDA) is well known, their effects on the medical or surgical closure of PDA in newborns remain unclear. This study aimed to assess the correlation between thyroid function tests and PDA closure through medical or surgical interventions in newborns.
METHODS
This retrospective study was conducted on 65 newborns diagnosed with hemodynamically significant PDA (hs-PDA), with a premature rate of 81.5% (n=53). The subjects were divided into two groups according to the nature of the ductal closure as medically responsive "MR-PDA" or surgically treated "ST-PDA". The groups were compared in terms of thyroid hormone levels and other clinical parameters.
RESULTS
Thirty-three (51%) of all 65 patients had PDA and responded to medical treatment. Gestational week, birth weight, and mode of delivery were similar between the medical and surgical treatment groups (p>0.05). Free thyroxine levels were significantly lower in the MR-PDA group than in the ST-PDA group (p=0.01).
CONCLUSIONS
Because hs-PDA is associated with increased morbidity and mortality in the neonatal period, especially in premature infants, we hypothesize that thyroid hormone levels may play a role in the closure of hs-PDA.
PubMed: 37766600
DOI: 10.4274/MMJ.galenos.2023.25853 -
European Journal of Cardio-thoracic... May 2024The goal was to evaluate neonatal outcomes based on treatment strategies and time points for haemodynamically significant patent ductus arteriosus (hsPDA) in...
OBJECTIVES
The goal was to evaluate neonatal outcomes based on treatment strategies and time points for haemodynamically significant patent ductus arteriosus (hsPDA) in very-low-birth-weight preterm infants, with a particular focus on surgical closure.
METHODS
This retrospective study included very-low-birth-weight infants born between 2014 and 2021 who received active treatment for hsPDA. Neonatal outcomes were compared between (i) primary surgical closure versus primary ibuprofen; (ii) early (<14th post-natal day) versus late primary surgical closure (≥14th post-natal day); and (iii) primary versus secondary surgical closure after ibuprofen failure. Further analysis using 1:1 propensity score matching was performed. Logistic regression was conducted to analyse the risk factors for post-ligation cardiac syndrome (PLCS) and/or acute kidney injury (AKI).
RESULTS
A total of 145 infants with hsPDA underwent active treatment for closure. The in-hospital death rate and the incidence of severe bronchopulmonary dysplasia (BPD) were similar between the primary surgical closure group and the primary ibuprofen group in a 1:1 matched analysis. Severe BPD was significantly higher in the late surgical closure group than in the early primary surgical closure group with 1:1 propensity score matching (72.7% vs 40.9%, P=0.033). The secondary surgical closure group showed the mildest clinical condition; however, the probability of PLCS/AKI was highest (38.6%) compared to the early (15.2%) or the late primary surgical group (28.1%, P<0.001), especially in extremely premature infants (gestational age < 28 weeks).
CONCLUSIONS
Surgical patent ductus arteriosus closure is not inferior to pharmacologic treatment. Considering the harmful effect of a prolonged patent ductus arteriosus shunt exposure, a timely decision and timely efforts should be made to minimize the risk of severe BPD and PLCS/AKI after surgical closure.
Topics: Humans; Ductus Arteriosus, Patent; Infant, Newborn; Retrospective Studies; Infant, Very Low Birth Weight; Male; Female; Ibuprofen; Ligation; Infant, Premature; Gestational Age; Propensity Score; Cardiac Surgical Procedures; Treatment Outcome; Risk Factors
PubMed: 38724226
DOI: 10.1093/ejcts/ezae175 -
Ultraschall in Der Medizin (Stuttgart,... Oct 2023Volumetric tomography (3D-CT) is currently considered the gold standard for the diagnosis of craniosynostosis, but its use as the first-line examination for cranial...
PURPOSE
Volumetric tomography (3D-CT) is currently considered the gold standard for the diagnosis of craniosynostosis, but its use as the first-line examination for cranial deformities is a topic of debate, because of skull X-ray radiation and low sensitivity and specificity. Cranial ultrasound is an emerging noninvasive radiation-free alternative, but its diagnostic accuracy still needs confirmation.
MATERIALS AND METHODS
The present prospective study included 350 infants with skull deformities, who underwent cranial ultrasound as the first-line examination, followed by 3D-CT if the echography results was positive or unclear. If the results were negative, infants underwent physical treatment and follow-up. To evaluate ultrasound reliability, we focused on cases that underwent both the index test and the gold standard and performed a double-blind comparison of the echography and 3D-CT results.
RESULTS
Ultrasound documented patent sutures in 293 infants and 9 had inconclusive results. The 293 ultrasound-negative infants were followed clinically: all improved, except 28 that underwent 3D-CT. In all of these cases, 3D-CT confirmed the ultrasonography results (no false negatives). 48 infants showed premature suture closure and underwent 3D-CT: 47 were confirmed (true positive), 1 was false positive. The sensitivity was 100%, the specificity was 99.7%, the positive and negative predictive values were 97.9% and 100%, respectively, the accuracy was 99.7%, and the diagnostic test evaluation was conclusive.
CONCLUSION
The study documented the high sensitivity and specificity of echography for the diagnosis of craniosynostosis in a referral center, with better results being achieved before 6 months of age. Major limitations are the loss of diagnostic significance as the child grows and the learning curve needed. The advantages are avoidance of radiation and chance to evaluate the brain at the same time.
PubMed: 35760078
DOI: 10.1055/a-1820-8101 -
Pediatric Surgery International Jul 2023Surgical site occurrences (SSO), including surgical site infection, dehiscence, and incisional hernia, are complications following laparotomy. SSO rates in premature... (Observational Study)
Observational Study
INTRODUCTION
Surgical site occurrences (SSO), including surgical site infection, dehiscence, and incisional hernia, are complications following laparotomy. SSO rates in premature neonates are poorly understood. We hypothesize that SSO rates are higher among extremely low birth weight (ELBW) infants compared to very low birth weight (VLBW) infants and strive to determine the optimal abdominal closure method for these infants.
METHODS
We conducted a prospective observational study of infants < 1.5 kg (kg) undergoing laparotomy at two institutions from 1/1/2020 to 5/1/2022. Patients were grouped by weight and closure; SSO rates were computed and the association tested using Fisher's exact test.
RESULTS
We identified 59 patients and 104 total operations. At initial surgery, 37 patients weighed < 1 kg (ELBW); 22 patients weighed 1-1.5 kg (VLBW). Complication rate for ELBW was 6(16%) vs. 2(9%) in VLBW, but not significant (p = 0.45). More complications followed a single-layer compared to a two-layer closure (18 vs. 2), but not significant (p = 0.30).
CONCLUSIONS
SSO rates are higher for ELBW infants undergoing laparotomy, and fewer complications follow two-layer closure. However, these findings did not reach statistical significance. Further studies are needed to identify modifiable factors to reduce postoperative complications in these infants.
Topics: Infant, Newborn; Infant; Female; Humans; Infant, Extremely Low Birth Weight; Prospective Studies; Laparotomy; Infant, Very Low Birth Weight; Pregnancy Complications; Enterocolitis, Necrotizing; Birth Weight
PubMed: 37477761
DOI: 10.1007/s00383-023-05520-z -
Child's Nervous System : ChNS :... Nov 2023To assess the role of FGFR2 mutations and sutural synostotic patterns on facial skeleton dysmorphology in children with syndromic craniosynostosis.
Facial skeleton dysmorphology in syndromic craniosynostosis: differences between FGFR2 and no-FGFR2-related syndromes and relationship with skull base and facial sutural patterns.
PURPOSE
To assess the role of FGFR2 mutations and sutural synostotic patterns on facial skeleton dysmorphology in children with syndromic craniosynostosis.
METHODS
Preoperative high-resolution CT images in 39 infants with syndromic craniosynostosis were evaluated. Patients were divided into infants with and without FGFR2 mutations; each group was split according to synostotic involvement of minor sutures/synchondroses: isolated or combined involvement of middle (MCF) and posterior cranial fossae (PCF). Quantitative analysis of the midface and mandible measures was performed. Each subgroup was compared with a group of age-matched healthy subjects.
RESULTS
Twenty-four patients with FGFR2 related syndromes were clustered in 3 subgroups: MCF + PCF (8 patients, 5.4 ± 1.75 months), MCF (8 patients, 3.62 ± 1.68 months), and PCF (8 patients, 2.75 ± 0.46 months). Fifteen no-FGFR2 patients were clustered in 2 subgroups: MCF + PCF (7 patients, 9.42 ± 0.78 months) and PCF (8 patients, 7.37 ± 2.92 months). Both FGFR2 and no-FGFR2 groups with involvement of minor sutures coursing in MCF showed more facial sutural synostoses. Children with minor suture/synchondrosis synostosis of MCF (MCF-PCF and MCF subgroups) showed altered position of glenoid fossa and mandibular inclination ([Formula: see text]), but children in the FGFR2 group had also reduced midfacial depth and maxillary length ([Formula: see text]). Children with minor suture/synchondrosis synostosis of PCF (PCF subgroups) had reduced posterior mandibular height, but those children in the FGFR2 group also showed reduced intergonion distance ([Formula: see text]).
CONCLUSIONS
In children with syndromic craniosynostosis, both skull base and facial suture synostosis affect facial dysmorphology/hypoplasia. FGFR2 mutations may worsen facial hypoplasia both acting on bone development and causing an earlier premature closure of facial sutures.
Topics: Humans; Infant; Cranial Fossa, Posterior; Cranial Sutures; Craniosynostoses; Face; Receptor, Fibroblast Growth Factor, Type 2; Skull; Skull Base; Syndrome
PubMed: 37195419
DOI: 10.1007/s00381-023-05962-9