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2.
Catheter Cardiovasc Interv ; 103(2): 308-316, 2024 02.
Artigo em Inglês | MEDLINE | ID: mdl-38091308

RESUMO

BACKGROUND: Balloon atrial septostomy (BAS) is an emergent and essential cardiac intervention to enhance intercirculatory mixing at atrial level in deoxygenated patients diagnosed with transposition of the great arteries (TGA) and restrictive foramen ovale. The recent recall of several BAS catheters and the changes in the European legal framework for medical devices (MDR 2017/745), has led to an overall scarcity of BAS catheters and raised questions about the use, safety, and experience of the remaining NuMED Z-5 BAS catheter. AIMS: To evaluate and describe the practice and safety of the Z-5 BAS catheter, and to compare it to the performance of other BAS catheters. METHODS: A retrospective single-center cohort encompassing all BAS procedures performed with the Z-5 BAS catheter in TGA patients between 1999 and 2022. RESULTS: A total of 182 BAS procedures were performed in 179 TGA-newborns at Day 1 (IQR 0-5) days after birth, with median weight of 3.4 (IQR 1.2-5.7) kg. The need for BAS was urgent in 90% of patients. The percentage of BAS procedures performed at bedside increased over time from 9.8% (before 2010) to 67% (2017-2022). Major complication rate was 2.2%, consisting of cerebral infarction (1.6%) and hypovolemic shock (0.5%). The rate of minor complications was 9.3%, including temporary periprocedural AV-block (3.8%), femoral vein thrombosis (2.7%), transient intracardiac thrombus (0.5%), and atrial flutter (2.2%). BAS procedures performed at bedside and in the cardiac catheterization laboratory had similar complication rates. CONCLUSIONS: BAS using the Z-5 BAS catheter is both feasible and safe at bedside and at the cardiac catheterization laboratory with minimal major complications.


Assuntos
Transposição dos Grandes Vasos , Humanos , Recém-Nascido , Transposição dos Grandes Vasos/diagnóstico por imagem , Transposição dos Grandes Vasos/cirurgia , Transposição dos Grandes Vasos/complicações , Estudos Retrospectivos , Resultado do Tratamento , Catéteres , Artérias
4.
Genet Med ; 21(5): 1074-1082, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30287924

RESUMO

PURPOSE: Several studies have reported diagnostic yields up to 57% for rapid exome or genome sequencing (rES/GS) as a single test in neonatal intensive care unit (NICU) patients, but the additional yield of rES/GS compared with other available diagnostic options still remains unquantified in this population. METHODS: We retrospectively evaluated all genetic NICU consultations in a 2-year period. RESULTS: In 132 retrospectively evaluated NICU consultations 27 of 32 diagnoses (84.4%) were made using standard genetic workup. Most diagnoses (65.6%) were made within 16 days. Diagnostic ES yield was 5/29 (17.2%). Genetic diagnoses had a direct effect on clinical management in 90.6% (29/32) of patients. CONCLUSIONS: Our study shows that exome sequencing has a place in NICU diagnostics, but given the associated costs and the high yield of alternative diagnostic strategies, we recommend to first perform clinical genetic consultation.


Assuntos
Doenças do Recém-Nascido/diagnóstico , Doenças do Recém-Nascido/genética , Mapeamento Cromossômico/métodos , Exoma/genética , Feminino , Testes Genéticos/economia , Estudo de Associação Genômica Ampla/métodos , Humanos , Recém-Nascido , Terapia Intensiva Neonatal , Masculino , Estudos Retrospectivos , Sequenciamento do Exoma/economia , Sequenciamento do Exoma/métodos
5.
Acta Paediatr ; 94(11): 1597-603, 2005 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-16352496

RESUMO

BACKGROUND: Advances in diagnostic testing and surgical techniques have resulted in reduced mortality in neonates with congenital heart disease (CHD) and a major concern for neurological morbidity in the presence of preoperative neurological injury. OBJECTIVES: To determine the incidence and nature of preoperative cerebral ultrasound abnormalities in neonates with major CHD and to examine the relationship between cerebral abnormalities and the type of CHD. METHODS: Retrospective study; inclusion criteria: (1) neonates with major CHD admitted to the NICU over a 3-y period, (2) gestational age >35 wk, (3) documented preoperative cranial ultrasound available; exclusion criteria: (1) small for gestational age, (2) other congenital anomalies and/or chromosomal abnormalities, (3) a 5-min Apgar score <7, (4) congenital infection. Cranial ultrasounds (CUS) were reviewed without knowledge of the cardiac defect. CHDs were categorized. RESULTS: Fifty of 108 neonates with CHD met the inclusion criteria. Twenty-one patients (42%) had abnormalities on CUS. Thirteen of these (26%) had widened ventricular and/or subarachnoid spaces, three (6%) lenticulostriate vasculopathy, one (2%) calcification in the basal nuclei, and four (8%) had acute ischaemic changes. Cerebral abnormalities occurred more frequently in patients with coarctation or hypoplastic left heart syndrome (HLHS) than transposition of the great arteries (TGA) (63% vs 14%; n.s.). CONCLUSION: There is a high incidence of preoperative cerebral ultrasound abnormalities in this group of neonates with major CHD.


Assuntos
Anormalidades Múltiplas/diagnóstico por imagem , Encefalopatias/diagnóstico por imagem , Encéfalo/anormalidades , Ecoencefalografia , Cardiopatias Congênitas , Cuidados Pré-Operatórios , Anormalidades Múltiplas/epidemiologia , Encefalopatias/epidemiologia , Feminino , Cardiopatias Congênitas/epidemiologia , Cardiopatias Congênitas/cirurgia , Humanos , Incidência , Recém-Nascido , Masculino , Estudos Retrospectivos , Método Simples-Cego , Suécia/epidemiologia
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