[Use of thoracic ultrasound in the assessment and follow-up of seriously ill children due to pediatric inflammatory multisystemic syndrome: Observational prospective study].
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ABSTRACT:
SUBMITTER: Gonzalez-Brabin A
PROVIDER: S-EPMC8502041 | biostudies-literature | 2022 Aug
REPOSITORIES: biostudies-literature
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[Use of thoracic ultrasound in the assessment and follow-up of seriously ill children due to pediatric inflammatory multisystemic syndrome: Observational prospective study].
González-Brabin A A Cabrero-Hernández M M García-Salido A A Leoz-Gordillo I I Iglesias-Bouzas M I MI Nieto-Moro M M
Medicina intensiva 20211009 8
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Project description:Objective: Analyze the ultrasound features, single nucleotide polymorphism microarray (SNP-array) outcomes, pregnancy results, and follow-up data of fetuses with Xp22.31 deletions or duplications in mid to late pregnancy. Methods: A retrospective analysis was carried out on 10 cases diagnosed with Xp22.31 deletions and 11 cases with duplications, identified through single nucleotide polymorphism microarray (SNP-array) testing. The analysis focused on assessing ultrasound abnormalities, tracing parental origins, pregnancy outcomes, and postnatal follow-up conditions. Results: The deletion sizes in the 10 deletion cases ranged from 913 Kb to 1.81 Mb, while the duplication sizes in the 11 duplication cases ranged from 1.29 Mb to 2.35 Mb, encompassing 9 OMIM genes including STS, ANOS1, DXS1283E, VCS3B, and HDHD1A. Among the fetuses with deletions, four cases (40.0%, 4/10) exhibited ultrasound abnormalities, which included cardiovascular system malformations, lateral ventriculomegaly, clubfoot, increased nuchal translucency, and polyhydramnios. Notably, Case 5 involved a fetus with complex multi-organ malformations, including bilateral ventriculomegaly, a ventricular septal defect, and clubfoot. Among the 11 cases of duplications, three cases (27.3%, 3/11) exhibited ultrasound abnormalities, primarily featuring cardiovascular malformations, ventriculomegaly, and polyhydramnios. Of the 10 deletion cases, eight underwent parental origin testing, with seven cases inherited (six maternal and one paternal) and one case of de novo mutation. Among the 11 duplication cases, eight underwent parental origin testing, with seven cases being inherited (four maternal and three paternal) and one case representing a de novo mutation. Of the 10 deletion cases, six chose to terminate the pregnancy, while four decided to continue. Follow-up revealed that Case 6 was diagnosed with STS ichthyosis shortly after birth, and the sbling of Case 3 and Case 10 exhibited delayed walking and speech development. In the duplication group, one case opted for termination of pregnancy, while 10 continued with their pregnancies. Follow-up identified that Case 18 exhibited delayed walking and speech development. Conclusion: This study provides a preliminary assessment of the genotypes and phenotypes of fetuses with Xp22.31 deletions /duplications, expanding the phenotypic spectrum of Xp22.31 deletions /duplications syndrome. The findings indicate that prenatal Xp22.31 deletions in male fetuses are likely to manifest as STS ichthyosis after birth. Xp22.31 deletions and duplications may be associated with cardiovascular malformations. For fetuses with Xp22.31 deletions /duplications that appear phenotypically normal prenatally, postnatal monitoring of their neurological development is crucial.
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Project description:BackgroundIn patients with pleural effusion, specific ultrasound characteristics are associated with pleural malignancy.ObjectivesThis study aimed to evaluate the added value of an additional, up-front, systematic thoracic ultrasound (TUS) to standard imaging in patients with unilateral pleural effusion of unknown cause in a clinical setting.MethodsIn a prospective observational pilot study, patients referred for workup and thoracentesis of a unilateral pleural effusion received up-front TUS following a set protocol in addition to available imaging and US guiding the thoracentesis or diagnostic puncture. The primary outcome was the proportion of cases where systematic TUS changed the planned diagnostic workup. Follow-up took place 26 weeks after inclusion.ResultsFrom February to December 2020, 55 patients were included. Thirty-six (65%) patients had other chest imaging available before TUS. Twenty-one (38%) were diagnosed with malignant pleural effusion. Three patients (5%) had clinically relevant changes in the diagnostic workup after additional systematic TUS.ConclusionsAdditional up-front, systematic TUS had limited clinically relevant effect on the planned diagnostic workup in patients with unilateral pleural effusion in a setting where chest CT scans often are available at referral.
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Project description:The effects of tracheostomy on outcome as well as on intra or post-operative complications is yet to be defined. Admission of patients with tracheostomy to rehabilitation facility is at higher risk of suboptimal care and increased mortality. The aim of the study was to investigate ICU mortality, clinical outcome and quality of life up to 12 months after ICU discharge in tracheostomized critically ill patients. This is a prospective, multi-center, cohort study endorsed by Italian Society of Anesthesia, Analgesia, Reanimation, and Intensive Care (SIAARTI Prot. n° 643/13) registered in Clinicaltrial.gov (NCT01899352). Patients admitted to intensive care unit (ICU) and requiring elective tracheostomy according to physician in charge decision were included in the study. The primary outcome was ICU mortality. Secondary outcomes included risk factors for ICU mortality, prevalence of mortality at follow-up, rate of discharge from the hospital and rehabilitation, quality of life, performance status, and management of tracheostomy cannula at 3-, 6, 12-months from the day of tracheostomy. 694 critically ill patients who were tracheostomized in the ICU were included. ICU mortality was 15.8%. Age, SOFA score at the day of the tracheostomy, and days of endotracheal intubation before tracheostomy were risk factors for ICU mortality. The regression tree analysis showed that SOFA score at the day of tracheostomy and age had a preeminent role for the choice to perform the tracheostomy. Of the 694 ICU patients with tracheostomy, 469 completed the 12-months follow-up. Mortality was 33.51% at 3-months, 45.30% at 6-months, and 55.86% at 12-months. Patients with tracheostomy were less likely discharged at home but at hospital facilities or rehabilitative structures; and quality of life of patients with tracheostomy was severely compromised at 3-6 and 12 months when compared with patients without tracheostomy. In patients admitted to ICU, tracheostomy is associated with high mortality, difficult rehabilitation, and decreased quality of life. The choice to perform a tracheostomy should be carefully weighed on family burden and health-related quality of life.Clinical trial registration: Clinicaltrial.gov (NCT01899352).
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