Paulo Soares

Severe pertussis in newborns and young vulnerable infants.

A retrospective chart review of 18 nonvaccinated newborns and infants admitted to 6 intensive care units in the north of Portugal between 2007 and 2012 revealed a high rate of admissions in 2012 along with significant rates of severe pulmonary hypertension and mortality. Hyperleukocytosis was significantly associated with a more severe clinical picture and mortality.

Derrames pleurais parapneumónicos em pediatria: Experiência num hospital central universitário

Resumo Introducao: Os derrames pleurais podem complicar as pneumonias na populacao pediatrica. Assumem especial importância pelas implicacoes na duracao do internamento, geralmente prolongado, e pela morbilidade associada. Objectivos: Caracterizar uma populacao de doentes com pneumonia complicada de derrame; determinar os possiveis factores de prognostico a partir de dados clinicos, radiologicos e analiticos na admissao; e avaliar a influencia das intervencoes terapeuticas na evolucao da doenca. Metodos: Revisao casuistica dos doentes com idade inferior a 18 anos e derrame pleural parapneu monico, internados de Julho de 1997 a Junho de 2004 (7 anos). Resultados: Foram estudados 118 casos, 60% do sexo masculino, com idade media 7 anos. A incidencia de derrame pleural aumentou ao longo do periodo do estudo. Verificou-se maior incidencia de casos no Outono e no Inverno. Na admissao, 60% dos doentes apresentavam sinais de dificuldade respiratoria e 39% dor toracica. Em 40% dos doentes foram detectados septos pleurais na admissao, o que se associou a maior duracao de internamento e de antibioticoterapia e mais frequente necessidade de cirurgia. Em 72% dos doentes foi efectuada toracocentese (pH medio: 7,24). Em 17% foi possivel isolar o agente: Streptococcus pneumoniae (cinco), Staphylococcus aureus (quatro) e Streptococcus pyogenes (quatro). Foram submetidos a drenagem pleural 52% e necessitaram de cirurgia 18%. A mediana da duracao de internamento foi de 15 dias e a media de 16,4 dias (2 a 51). Discussao : Associam-se a pior prognostico a presenca de: sinais de dificuldade respiratoria; septos; empiema; baixo valor no liquido pleural de pH, glicose ou proteinas; desidrogenase lactica elevada no liquido pleural e proteina C-reactiva sanguinea aumentada. A drenagem pleural e/ou cirurgia mais precoces provavelmente diminuem o tempo de doenca e de internamento. Conclusao : Os derrames parapneumonicos complicados sao tratados com exito em centros de referencia com experiencia nos diferentes tipos de intervencao que poderao ser necessarios. Rev Port Pneumol 2009; XV (2): 241-259

Pediatric parapneumonic pleural effusions: Experience in a university central hospital

INTRODUCTION Pleural effusions can complicate pneumonias in children and adolescents and are usually associated with a long hospital stay and increased morbidity. AIMS To characterise a population of patients with parapneumonic pleural effusion and to establish possible prognostic factors on admission based on clinical, imaging and analytical data. To correlate treatment options with the outcome. METHODS Case review of patients under 18 years old with parapneumonic pleural effusion, admitted between July 1997 - June 2004 (7 years). RESULTS 118 patients were included, 60% male, with mean age 7 years. The incidence of pleural effusion increased throughout the period of the study. The admissions occurred predominantly in autumn and winter. On admission 60% of patients had respiratory distress and 39% chest pain. In 40% loculations were found on admission and were associated with longer hospital stay, longer course of antibiotic therapy and more frequent need for surgery. Thoracentesis was performed in 72% of patients (mean pH pleural fluid 7.24). The aetiologic agent was identified in 17% of cases: Streptococcus pneumoniae (five), Staphylococcus aureus (four) and Streptococcus pyogenes (four). In our study, 52% of patients underwent pleural drainage and 18% surgery. Median length of hospital stay was 15 days with mean 16.4 days (2 - 51). DISCUSSION Factors associated with worse prognosis were respiratory distress, loculations, empyema, low pH in pleural fluid, glucose or proteins in pleural fluid, high lactic dehydrogenase level in pleural fluid and high serum C-reactive protein. Pleural drainage and/or surgery can shorten hospital stay and improve outcome. CONCLUSION Complicated parapneumonic pleural effusions are managed successfully in centres with experience in the different types of procedure that might be necessary.

A Novel Mutation in FOXF1 Gene Associated with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins, Intestinal Malrotation and Annular Pancreas

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare, fatal, neonatal developmental lung disorder, which usually presents as persistent pulmonary hypertension unresponsive to treatment. The authors report the case of a neonate with persistent pulmonary hypertension, associated with duodenal stenosis secondary to annular pancreas and intestinal malrotation. Support treatment, inhaled nitric oxide, oral sildenafil and nebulized iloprost were used with no clinical improvement. The neonate presented an overwhelming course, with hypoxemia refractory to treatment. At autopsy lung histology showed the characteristic features of ACD/MPV. DNA sequence analysis revealed a heterozygous nonsense mutation c.539C>A;p.S180X, in the first exon of FOXF1. FOXF1 has been identified as one of the genes responsible for ACD/MPV associated with multiple congenital malformations. This clinical case is the first report of a heterozygous nonsense mutation c.539C>A;p.S180X in the first exon of FOXF1, in a patient with ACD/MPV associated with annular pancreas and intestinal malrotation.

Respiratory Care for the Ventilated Neonate

Invasive ventilation is often necessary for the treatment of newborn infants with respiratory insufficiency. The neonatal patient has unique physiological characteristics such as small airway caliber, few collateral airways, compliant chest wall, poor airway stability, and low functional residual capacity. Pathologies affecting the newborns lung are also different from many others observed later in life. Several different ventilation modes and strategies are available to optimize mechanical ventilation and to prevent ventilator-induced lung injury. Important aspects to be considered in ventilating neonates include the use of correct sized endotracheal tube to minimize airway resistance and work of breathing, positioning of the patient, the nursing care, respiratory kinesiotherapy, sedation and analgesia, and infection prevention, namely, the ventilator-associated pneumonia and nosocomial infection, as well as prevention and treatment of complications such as air leaks and pulmonary hemorrhage. Aspects of ventilation in patients under ECMO (extracorporeal membrane oxygenation) and in palliative care are of increasing interest nowadays. Online pulmonary mechanics and function testing as well as capnography are becoming more commonly used. Echocardiography is now a routine in most neonatal units. Near infrared spectroscopy (NIRS) is an attractive tool potentially helping in preventing intraventricular hemorrhage and periventricular leukomalacia. Lung ultrasound is an emerging tool of diagnosis and can be of added value in helping monitoring the ventilated neonate. The aim of this scientific literature review is to address relevant aspects concerning the respiratory care and monitoring of the invasively ventilated newborn in order to help physicians to optimize the efficacy of care.

Neonatal dilated cardiomyopathy

Cardiomyopathies are rare diseases of the heart muscle, of multiple causes, that manifest with various structural and functional phenotypes but are invariably associated with cardiac dysfunction. Dilated cardiomyopathy is the commonest cardiomyopathy in children, and the majority present before one year of age. Its etiology may be acquired or genetic. Myocarditis is an important cause and is responsible for the majority of acquired cases. Inherited (familial) forms of dilated cardiomyopathy may occur in 25-50% of patients. Echocardiographic and tissue Doppler studies are the basis for diagnosis of dilated cardiomyopathy in most patients. Marked dilatation of the left ventricle with global hypokinesis is the hallmark of the disease. This review will cover the classification, epidemiology and management of newborns with dilated cardiomyopathy. In particular, a comprehensive and up-to-date review of the genetic study of dilated cardiomyopathy and of detailed echocardiographic assessment of these patients will be presented.

Congenital anomalies: 15 years of experience in a level III hospital

Background: Congenital anomalies (CAs) are a leading cause of fetal and infant mortality and morbidity worldwide. They may be identified prenatally, at the moment of birth or later in life. Purpose: To describe the cases of CAs registered over the last 15 years at a level III hospital, comparing individuals who were detected through prenatal (preN) diagnosis with those detected through postnatal (postN) diagnosis. Methods: All records were collected from the Registo Nacional de Anomalias Congenitas (RENAC) online platform between 1 st January 2000 to 31 st December 2014, in a level III hospital, where cases of CAs were notified voluntarily (n = 1,222). We tested differences for selected variables between the years in study. A multivariate analysis was performed to identify potential factors associated to preN diagnosis. Results: We observed a total of 1,510 anomalies, being 493 (40.3%) circulatory, 252 (20.6%) chromosomal, 187 (15.3%) musculoskeletal, 138 (11.3%) digestive, 133 (10.9%) urinary, 117 (9.6%) nervous, 37 (3.0%) respiratory, 35 (2.9%) genital, 25 (2%) anomalies of the eye, ear, face and neck, 20 (1.6%) cleft lip/cleft palate and 73 (6.0%) others. Time of diagnosis was known for all subjects: 770 (63.0%) were diagnosed prenatally and 452 (37.0%) were diagnosed at birth or during the first month of life. We found statistically significant differences between groups for several variables. Assisted reproduction techniques (p = 0.023), maternal medications during the first trimester of pregnancy (p = 0.004) and the number of anomalies per individual (p ≤ 0.001) had a statistically significant impact on receiving preN diagnosis. Conclusion: Our data confirm the importance of both RENAC national database and preN diagnosis in improving perinatal healthcare. However, in order to determine the national prevalence of CAs and understand any involved factors, it is desirable to enhance the notification in the whole country, facilitating the adjustment of national protocols to achieve a better perinatal counseling and surveillance.

PDA management in VLBW infants: experience of a level III NICU

Introduction: Hemodynamically significant patent ductus arteriosus (PDA) is a common condition in very low birth weight infants. Therapeutic options include medical therapy and surgical ligation. Medical treatment is based on non-selective inhibitors of cyclooxygenases 1 and 2 (indomethacin and ibuprofen). The debate on the most appropriate treatment for the closure of the PDA is far from being closed, in the light of the currently available evidence. Aim: The objective of this study was to compare efficacy and safety of indomethacin and ibuprofen. Methods: All infants < 32 weeks of gestational age or ≤ 1,500 g of birth weight born in “Centro Hospitalar Sao Joao” between January 2005 and December 2014 were included. Those with major malformations or genetic disorders, congenital TORCH infections, transferred or deceased before 72 hours of life, outborns, and those with severe pathologies at birth were excluded. The cohort of neonates treated with indomethacin from January 2005 to December 2009 was compared to those treated with ibuprofen from January 2010 to December 2014. Results: 328 newborns were included in the study: 99 (30.2%) with PDA and 229 (69.8%) without. The median gestational age was 30 weeks and the median birth weight was 1,231 grams. Among the 99 patients with PDA, 21 were treated with indomethacin and 41 received ibuprofen. There was no statistically significant difference in efficacy between groups. There was a higher incidence of thrombocytopenia in the indomethacin group compared to the ibuprofen group, but there was no significant difference in any other PDA-associated comorbidities between groups. Conclusion: Our study showed that indomethacin and ibuprofen have a similar effect in closing PDA in < 32 weeks preterm infants. We found no significant differences in safety, except for thrombocytopenia. Further studies are necessary to compare both efficacy and adverse events of ibuprofen and indomethacin to identify the optimal pharmacological agent for PDA.

Neonatal arrhythmias – morbidity and mortality at discharge

Introduction: Cardiac arrhythmias are often diagnosed in fetuses and newborns. In the neonatal period, the incidence varies between 1% and 5%. There are three main types of rhythm disturbance: irregular heart rhythm, tachycardia and bradycardia. The prognosis changes with the nature of the arrhythmias and with timely diagnosis and management, but the majority have benign course, either spontaneously or after brief treatment, with life-threatening arrhythmias occurring rarely. Aim: To evaluate the morbidity and mortality of neonates with cardiac arrhythmia, at discharge from the Neonatal Intensive Care Unit (NICU). Methods: The study population included all newborns who were admitted with the diagnosis of cardiac arrhythmia between January 1, 2005 and December 31, 2014 at the NICU of “Centro Hospitalar de Sao Joao” (CHSJ), a level III unit. Data were collected retrospectively by reviewing patient’s clinical records. Results: Of a total of 66 patients with cardiac arrhythmia, at discharge from the NICU, 3% died and 9% showed sequelae. Adverse outcome was associated with preterm delivery, 1 st and 5 th minutes Apgar score < 7, resuscitation at birth, earlier prenatal diagnosis, gestation complications, postnatal therapy with electrical cardioversion, other reasons for hospitalization besides arrhythmia, inotropic support, longer hospital stay, oxygen therapy and mechanical ventilation and duration of both, transfusion support, parenteral nutrition and central vascular access. No arrhythmia type was associated to differences in outcome. Conclusion: Our study reports an overall good prognosis of neonates with cardiac arrhythmia at discharge from NICU. Nevertheless, we identified some factors related to the perinatal period and to NICU stay that were associated with adverse outcome.