Background: In previous studies clinical signs or amplitude-integrated electroencephalography (aEEG)-based signs of encephalopathy were used to select infants with perinatal asphyxia for treatment with hypothermia. Aim: The objective of this study was to compare Thompson encephalopathy scores and aEEG, and relate both to outcome. Subjects and Methods: Thompson scores, aEEG, and outcome were compared in 122 infants with perinatal asphyxia and therapeutic hypothermia. Of these 122 infants, 41 died and 7 had an adverse neurodevelopmental outcome. A receiver operating characteristics (ROC) analysis was also performed. Results: Thompson scores were higher in infants with more abnormal aEEG background patterns (ANOVA, p < 0.001). The ROC analysis demonstrated that a Thompson score of 11 or higher or an aEEG background pattern of continuous low voltage or worse was associated with an adverse outcome (AUC 0.84 for both). Conclusions: High Thompson scores and a suppressed aEEG background pattern are associated with an adverse outcome after perinatal asphyxia and therapeutic hypothermia. Further studies are needed to identify the best technique with which to select patients for therapeutic hypothermia
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare, fatal, developmental lung disorder, which usually presents as persistent pulmonary hypertension of the newborn (PPHN) unresponsive to treatment. The authors present their own experience with three cases admitted during the last 15 years.
Although birth rate in Portugal is the fourth lowest in Europe and the number of COVID-19 cases in our country is one of the lowest, we already managed a case of a pregnant woman at term infected with SARS-CoV-2 who went into labor at term [1]. On March 17th 2020, in a level III hospital in Porto, a Caucasian 31-year-old woman with 38 weeks' gestation was admitted at the obstetrical emergency department. She was a healthy gravida 2 para 1, with no complications during pregnancy. At admission, she was complaining of mild painful uterine contractions for a few hours. She was in home isolation as her husband was diagnosed with COVID-19 and hospitalized on March 12th 2020. At admission, she presented dry cough, with no fever, chills or shortness of breath. Because she was a close contact of a confirmed COVID-19 case, she was attended as a suspected case and settled in an isolation room. SARS-CoV-2 was detected by reverse-transcription polymerase chain reaction (RT-PCR) analysis on nasal and oropharyngeal swabs. After obstetric evaluation, latent phase of labor was diagnosed, the cervix was 3 cm dilated and 30 % effaced. Care in labor continued in the same isolation room. All health care workers in contact with the pregnant woman wore appropriate personal protective equipment for contact and airborne precautions with eye protection. Epidural analgesia was performed as
A full-term infant girl was delivered by elective caesarean section at 38 + 3 gestational weeks.Pregnancy history was unremarkable. Birth weight: 3465 grams. Apgar score was 9, 10, and 10 at 1, 5, and 10 min, respectively. There were no complications in the immediate neonatal period. On the fifth day of life, an erythematous, hard, and painless lesion (2 2 cm) in the right upper limb was detected (Fig. 1). Ultrasound revealed thickening and hyperechogenicity of the subcutaneous cellular tissue, compatible with subcutaneous fat necrosis (SCFN). Initial laboratorial studies were unremarkable, except mildly increased ionized calcium 5.53 mg/dL (reference range: 4.8-5.52 mg/dL). The patient did not receive vitamin D supplements. Subsequent laboratorial studies revealed no changes. There was spontaneous progressive reduction of the lesion and complete disappearance at 6 months.
Arthrogryposis multiplex congenita (AMC) is a heterogeneous condition comprising congenital multiple joint contractures, and it is secondary to decreased fetal mobility following environmental/genetic abnormalities. BICD2 pathogenic variants have been associated with autosomal dominant spinal muscular atrophy with lower extremity predominance (SMALED2). We report the case of a newborn with decreased fetal movements and ventriculomegaly diagnosed in utero, born with severe AMC, multiple bone fractures, congenital hip dislocation, and respiratory insufficiency that led to neonatal death. His mother had AMC diagnosis without established etiology. Her phenotype characterization was key to guide the genetic investigation. A BICD 2 heterozygous variant (NM_001003800.1; c.2080C > T; p. [Arg694Cys]) was detected both in the mother and the newborn. This variant had previously been reported in 3 cases, all having de novo severe SMALED-type 2B (MIM#618291) phenotype. This is the first report of this variant (p. [Arg694Cys]) presenting with an inherited, severe, and lethal phenotype associated to intrafamilial variability, suggesting a more complex phenotype-genotype correlation than previously stated.
No abstract
Introduction: Sudden and unexpected postnatal collapse is a rare event with potentially dramatic consequences. Intervention approaches are limited, but hypothermia has been considered after postnatal collapse. The aim of this study was to analyse sudden and unexpected postnatal collapse cases that underwent therapeutic hypothermia in the five Portuguese hypothermia centres.Material and Methods: In this multicentre, retrospective and descriptive study, clinical, ultrasonography, amplitude-integrated electroencephalography and brain magnetic resonance findings of newborns with postnatal collapse that underwent therapeutic hypothermia are reported (2010 - 2018). Statistical analysis was performed by using IBM SPSS Statistics version 21.Results: Twenty-two cases of sudden and unexpected postnatal collapse were referred for therapeutic hypothermia (82% outborn), all ≥ 36 weeks, with Apgar 5´ ≥ 8. Collapse occurred during the first two hours in 73% (all < 24 hours), 50% during skin-to-skin care, 55% related to feeding and 23% during co-bedding. Moderate-severe encephalopathy and severe acidosis were observed (median: Thompson score 16, pH 6.90, base deficit 22 mmol/L). Amplitude-integrated electroencephalogram was abnormal in 95% and magnetic resonance imaging showed severe brain injury in 46%. The mortality rate was 50%. A possible cause was identified in 27%.Discussion: The incidence rate of 2.7 sudden cases of postnatal collapse per 100 000 births, is possibly under-estimated. All infants suffered the collapse in the first day, mostly within the first two hours, as reported before. Possible causes were identified in less than a third of cases, but multiple predisposing conditions were identified, suggesting that prevention may be possible. Newborn positioning and skin-to-skin care have been the most discussed practices. A significant proportion of infants had poor outcomes. Lower Thompson score, electroencephalogram amplitude normalization and normal magnetic resonance imaging seemed to indicate better outcomes. Although conclusive trials on therapeutic hypothermia after postnatal collapse are not available, its use has been considered individually. No severe adverse effects directly related to hypothermia were registered in this study, but the results do not allow drawing meaningful conclusions.Conclusion: In our national sample of 22 infants who suffered sudden and unexpected postnatal collapse and underwent therapeutic hypothermia, a significant proportion had poor outcomes. Absolute conclusions from our experience with hypothermia in postnatal collapse cannot be drawn, but systematic reporting of cases and long-term clinical evaluation would facilitate understanding of the real benefits of hypothermia. As this procedure has not been validated with clinical trials for this indication, its use should be considered on a case-by-case approach. The potentially avoidable nature of unexpected postnatal collapse is evident from its association with certain behaviours and risk factors. Surveillance practices during the first hours should be implemented, whilst the benefits of breastfeeding and skin-to-skin care should continue to be widely promoted.
Conclusions While TH has changed the predictive values of initial HIE grades, clinical staging at <6 h correlates with outcome. The course of encephalopathy throughout TH is valuable in outcome prediction. Background and aims Early prediction of neurodevelopmental outcome following hypoxic-ischaemic encephalopathy remains a challenge. The aim of this retrospective study was to evaluate the aEEG background patterns and Thompson score on admission in asphyxiated neonates receiving hypothermia regarding outcome and neonatal variables. Methods After excluding congenital malformations and muscle paralysis, 89 neonates (January 2008 to June 2012) were included (GA: 39.7 ± 1.8 wks; BW: 3504 ± 640 g). On admission the Thompson score and aEEG were recorded. aEEG was scored as Continuous Normal Voltage (CNV), Discontinuous Normal Voltage (DNV), Burst-Suppression (BS), Continuous Low Voltage (CLV) or Flat Trace (FT). The combination of one or more of the following event (s): death, cerebral palsy, and Griffiths DQ less than 85 at 18 months were considered an adverse outcome. ANOVA, correlation, and binary logistic regression analyses were performed. Results Thompson scores (in mean ± sd) were associated with aEEG pattern (CNV: 8.3 ± 1.7; DNV: 8.9 ± 1.9; BS: 11.6 ± 3.6; CLV: 12.0 ± 2.1; FT: 13.1 ± 3.2; p < 0.001). Also, both aEEG and Thompson score were statistically correlated with Apgar 1 and 5 min scores (p < 0.05). PS-155
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