Sudden unexpected postnatal collapse and BUB1B mutation: first forensic case report.

Sudden unexpected postnatal collapse (SUPC) is a sudden collapse of the clinical conditions of a full-term or near-term newborn, within the first 7 days of life, that requires resuscitation with positive ventilation and who either dies, has hypoxic-ischemic encephalopathy, or requires intensive care. The incidence of SUPC is very low, and most often presents a negative prognosis. The BUB1B gene is a mitotic checkpoint of serine/threonine kinase B that encodes a protein crucial for maintaining the correct number of chromosomes during cell division. Mutations in the BUB1B gene are linked to mosaic variegated aneuploidy syndrome 1 (MVA1), a rare autosomal recessive disorder characterized by diffuse mosaic aneuploidies involving several chromosomes and tissues. This paper discusses a case of a newborn who had a spontaneous delivery. After 2 h and 10 min, the infant showed generalized hypotonia and cyanosis, and his doctors performed orotracheal intubation, cardiac massage, pharmacological hemodynamic therapy, mechanical ventilation, antibiotic therapy, and hypothermic treatment. The newborn was discharged after 5 months with the diagnosis of hypoxic-ischemic encephalopathy. Suspecting an SUPC, a complete genetic analysis was performed demonstrating a compound heterozygous mutations in the BUB1B gene. The newborn died at 6 months of life, 1 month after discharge. A complete autopsy was performed, determining that the cause of death was due to sepsis starting from a brocopneumonic process, with outcomes of hypoxic-ischemic encephalopathy (HIE). In this scenario, it is not possible to demonstrate the causal effect of this mutation, considering that it could play a causal or concausal role in the onset of SUPC. Further research based on multicenter studies, as well as on animal models, could be very useful to clarify the pathological effect of this mutation.

Idiopathic Pulmonary Hemorrhage in Infancy: A Case Report and Literature Review.

Acute idiopathic pulmonary hemorrhage in infants (AIPHI) is a rare and quite low-described entity. Nowadays, pathophysiological mechanisms are poorly understood, although the lethality remains high. We present an autopsy case report of a 2-day-old male who developed respiratory distress and blood leakage from the endotracheal tube (ET) and suddenly died because of acute pulmonary hemorrhage. A postmortem examination and histological analysis were performed and are reported in this paper. Alveolar spaces were filled with red blood cells and hyaline membranes in all the examined samples. The absence of other findings led us to select a post-mortem diagnosis of AIPHI. To support our diagnosis, we conducted a systematic review of the updated scientific literature and found that only 61 cases have been reported. Most of them presented acute respiratory distress and bleeding from the upper airways with blood leakage from ET (9.83%), hemoptysis (52.45%), epistaxis (8.2%), and hematemesis (3.27%). The autopsy data revealed hemorrhages of the lower airways and hemosiderin-laden macrophages. The data from the scientific publications and our findings are essential to achieving a correct diagnosis. On these bases, we suggest autoptic criteria to achieve a post-mortem diagnosis of AIPHI.

Consensus conference on the appropriateness of palivizumab prophylaxis in respiratory syncytial virus disease.

Respiratory syncytial virus infection represents a clinical burden among young children under 24 months. Palivizumab is the only drug licensed in Italy for the prevention of serious lower respiratory tract disease requiring hospitalization caused by respiratory syncytial virus in children at high risk. However recommendations for palivizumab prophylaxis are heterogeneous. Not all the published documents agree about the clinical indications of palivizumab; this could lead to different clinical practices and concerns about the appropriateness of prophylaxis. These issues and the lack of evidence about palivizumab prophylaxis efficacy in specific medical conditions brought on the idea of a consensus conference on the current recommendations for the management and prevention of bronchiolitis, in order to share useful indications. The goal was to perform a review of the evidence regarding the efficacy and the safety of palivizumab and give recommendations in order to harmonize its use. A structured and validated method to conduct the consensus process was adopted. The consensus conference recommends palivizumab prophylaxis in infants born before 29 weeks and younger than 12 months at the start of the epidemic season. According to evidence from literature and experts' opinion, palivizumab prophylaxis is not recommended in preterm infants of gestational age ≥29 weeks, without co-morbidity (i.e., cardiac, bronchopulmonary diseases). The experts identified some clinical rare conditions for which the decision of prophylaxis should be entrusted to the specialists. The evaluation of the appropriateness of palivizumab prophylaxis in the single patient should be documented by the specialists. Pediatr Pulmonol. 2016;51:1088-1096. © 2016 Wiley Periodicals, Inc.

Neonatal hemoperitoneum: unexpected birth trauma with fatal consequences.

We report a case of fatal intra-abdominal bleeding in a term newborn delivered by vacuum extractor and Kristeller manouvre. Although autopsy was not performed in compliance with the parents' wishes, there is strong evidence of a massive abdominal haemorrhage due to injuries of the hypochondriac organs probably leading to disconnection of a vascular pedicle.

[Parental alienation syndrome (PAS): unknown in medical settings, endemic in courts]. / La sindrome di alienazione parentale: sconosciuta negli ospedali, endemica nei tribunali.

A purposed syndrome of so-called parental alienation (PAS), unsupported by any evidence-based data, unknown in medical settings, unquoted in medical books, absent in DSM and ICD, never demonstrated by controlled studies published in high scientific level journals, is rampant in Courts where it can lead to loose parental custody. During a divorce trial, almost always the mothers and the children, become joint in a sort of folie au deux, in a denigration campaign of ex-husband/father. From a review on this issue it seems evident its theoretical roots lie on a theory that justify gender violence and children sexual abuse. The bias that both of them are layers and that he children have not autonomy block their possibility of any defence in front of a Court. In severe cases, PAS becomes a new and efficient tool of intra-familiar violence. The treatment of severe cases is to stop any contact between mother and children. The resort to PAS in Courts must be strongly rejected.

Regulation of treatment of infants at the edge of viability in Italy: the role of the medical profession?

In the last few years there has been intense debate in Italy on administration of life-prolonging treatment to premature babies at the edge of viability. In 2006, a group of experts based in Florence drafted recommendations known as Carta di Firenze (CdF) for responsible use of intensive care for premature infants between 22 and 25 weeks of gestational age (GA). The CdF was later endorsed by several medicoprofessional associations, but was followed by recommendations by the Ministry of Health mandating resuscitation for all premature babies regardless of GA and parental consent. Recent statements from medicoprofessional bodies seem to show that the 'always resuscitate rule' is not supported by many Italian doctors. We argue that ethically sensitive issues in medicine should be regulated with, and not against, the medical profession and its representative bodies.

Periviable babies: Italian suggestions for the ethical debate.

With the advancement of medical technology, the outcomes for high-risk infants have greatly improved. However, hand and hand with the more positive result of saving neonates, modern neonatal intensive care has also brought to light several issues regarding the ethical grounds in infant care. One of the greatest problems concerns newborns at the threshold of viability. Treatment guidelines have been formulated for these babies in different countries all around the world and there is the general consensus to withhold resuscitation in neonates when gestational age in less than, or equal to 23 weeks, with intensive care ensured for infants at 25 weeks' gestational age. In order to provide helpful suggestions during the initial management of the threatened birth of an infant with a gestational age of 25 completed weeks or less, we conducted a study for reviewing international studies on survival and morbidity rates, international guidelines and practice recommendations. This gave rise to the creation of a consensus document subsequently submitted to the Italian Scientific Societies for approval. The 'Carta di Firenze' does not attempt to deal with the problems related to pediatric euthanasia or eugenetics: its aim is to protect the infant and the mother from undue suffering although addressing recommendations for the work of clinicians.

[Between being born "alive" and being born "alive and vital": the clinical evaluation of viability]. / Tra nato vivo e nato vivo e vitale: l'accertamento della capacità di vita autonoma.

This paper reviews the definition of stillbirth and its clinical implications in assessing survivability outside the womb. The World Health Organization's definition of stillbirth and its epidemiological purposes are taken into account, together with a brief review of the international opinions regarding the medical assessment of the presence of life signs at birth.

Perinatal care at the threshold of viability: an international comparison of practical guidelines for the treatment of extremely preterm births.

Over the last 2 decades, the survival rate of infants born at < or = 25 weeks of gestation has increased; however, significant morbidity and disability persist. The commitment for their care gives rise to a variety of complex medical, social, and ethical aspects. Decision-making is a crucial issue that involves the infant, the family, health care providers, and society. In a review of the existing guidelines, we investigated the different approaches in the care of extremely preterm births in various countries. We found that many scientific societies and professional organizations have issued guidelines that address the recommendations for the care of these fetuses/neonates although to varying degrees. In this article we compare different approaches and assess the scientific grounds of the specific recommendations. With current standards, intensive care is generally considered justifiable at > or = 25 weeks, compassionate care at < or = 22 weeks, and an individual approach at 23 to 24 weeks, consistent with the parents' wishes and the infant's clinical conditions at birth.

[Birth after late termination of pregnancy: a neonatologist's point of view]. / Nascere da una terminazione di gravidanza: il punto di vista di un neonatologo.

The bioethical dilemma of late termination of pregnancy in the Italian scenario is discussed in the light of the Italian legislation governing this issue (194/1978). The law obliges practitioners to evaluate the viability of the fetus/newborn at birth in order to decide strategies of treatment. If there is a chance of survival then the neonate could be a candidate for resuscitation and intensive care.

[The Italian law on termination of pregnancy (194/1978). Should it be revised? The palliative care option]. / Terapia palliativa del feto/neonato con malformazioni incompatibili con la vita: una opzione alternativa alla interruzione di gravidanza.

The section of the Italian law on the termination of pregnancy (no. 194/1978) regarding late termination is revised and discussed in the light of the various options that could be offered to parents. Besides recent suggestions to apply time limits, the author reviews an alternative therapeutic option, considered the only feasible revision of the law which calls for strong involvement by the neonatologist and close collaboration with the obstetrician: the offer of palliative care for foetus/neonate and parents.

A 4-year survey on palivizumab respiratory syncytial virus (RSV)-prophylaxis: how can compliance be improved?

OBJECTIVE: To identify compliance-influencing factors and to suggest strategies for overcoming barriers in a preventive medicine program. METHODS: A survey was conducted to evaluate compliance in children receiving palivizumab prophylaxis for respiratory syncytial virus (RSV) infections. Demographics, neonatal variables, and parental attitudes capable of influencing the outcome of prophylaxis were studied in 216 children over a four-year period. RESULTS: The overall compliance rate with all recommended doses of palivizumab was 87%. Among the neonatal characteristics, low birth weight and a younger age at the beginning of the program were significantly associated with good compliance (p < 0.05). The strongest factor influencing poor compliance was being foreign-born or a non-native speaker (p < 0.01). CONCLUSIONS: Compliance to RSV infection prophylaxis is reduced in infants born to foreign-born or non-native speakers. In order to enhance compliance, parents should be provided with adequate information in their own language explaining the advantages of the palivizumab prophylaxis program for RSV infections.

Bilateral consolidation of the lungs in a preterm infant: an unusual central venous catheter complication.

We describe a case of bilateral parenchymal consolidation with sudden respiratory distress in a preterm baby as a complication of peripherally inserted central catheter (PICC) dislocation. The X-rays showed bilateral pulmonary consolidation with the catheter tip initially located in the right, and later in the left pulmonary artery. The catheter was withdrawn. As soon as the catheter was repositioned all clinical signs and symptoms disappeared. Neonatologists should consider the possibility of dramatic respiratory distress deriving from PICC dislocation. Careful tip catheter placement and conscientious monitoring may reduce morbidity.

Thoracentesis in pericardial and pleural effusion caused by central venous catheterization: a less invasive neonatal approach.

An 840 g infant developed a rapid onset of shock-like symptoms. Pericardial and pleural effusions from an indwelling central catheter were diagnosed via echocardiography. A thoracentesis was promptly performed with immediate clinical improvement. The fluid withdrawn from the pleural space was analysed as hyperalimentation. The infant survived because of early diagnosis and aggressive therapeutic intervention. A pericardial effusion should be drained if there is cardiovascular compromise and because pericardiocentesis represents a high risk technique, attempts should be made to rectify the extravasation via thoracentesis.