Manifestaciones clínicas asociadas al síndrome de TORCH / Clinical manifestations associated to the TORCH syndrome

Las infecciones neonatales se adquieren comúnmente por la vía intrauterina o durante el parto. El acrónimo TORCH fue designado para un grupo de infecciones comunes, y se utiliza de forma universal para caracterizar el cuadro clínico que presenta el feto o el recién nacido compatible con una infección congénita que incluye rash, hepatoesplenomegalia, hidrocefalia o microcefalia, alteraciones cardiovasculares, auditivas y oculares. Las siglas TORCH comprenden toxoplasmosis, otros (sífilis y HIV), rubeola, citomagalovirus y herpes simple. Lo más importante de este término es que dota al médico de las herramientas para hacer un enfrentamiento racional, tanto diagnóstico como terapéutico, y establecer un plan de acción para minimizar los daños producidos por estas infecciones. Con esta revisión nos proponemos destacar las manifestaciones clínicas más importantes asociadas al síndrome de TORCH, así como sus vías de transmisión, diagnóstico y tratamiento de las infecciones que lo comprenden, teniendo en cuenta que con relativa frecuencia en nuestra institución son interconsultados estos pacientes y que de su evaluación correcta y oportuna puede depender un diagnóstico certero, con un tratamiento adecuado, y una mejor evolución de estos(AU)

Neonatal infections are often acquired during pregnancy or childbirth. The acronym TORCH refers to a group of common infections, and is universally used to characterize a clinical status of fetuses or newborns which is compatible with a congenital infection, including rash, hepatosplenomegaly, hydrocephalus or microcephaly, as well as cardiovascular, hearing or sight disorders. The initials TORCH stand for Toxoplasmosis, Other infections (such as syphilis or HIV), Rubella, Cytomegalovirus and Herpes simplex. The term is especially useful because it provides doctors with the tools required for a rational diagnostic and therapeutic response and the development of an action plan aimed at minimizing the damage caused by these infections. The purpose of this review is to present the most important clinical manifestations of the TORCH syndrome, as well as its routes of transmission, diagnosis and treatment of the infections making it up(AU)

Australian Paediatric Surveillance Unit Annual Report, 2016.

This report summarises the cases reported to the Australian Paediatric Surveillance Unit (APSU) of rare infectious diseases or rare complications of more common infectious diseases in children. During the calendar year 2016, there were approximately 1500 paediatricians reporting to the APSU and the monthly report card return rate was 90%. APSU continued to provide unique national data on the perinatal exposure to HIV, congenital rubella, congenital cytomegalovirus, neonatal and infant herpes simplex virus, and congenital and neonatal varicella. APSU contributed 10 unique cases of Acute Flaccid Paralysis (a surrogate for polio) - these data are combined with cases ascertained through other surveillance systems including the Paediatric Active Disease Surveillance (PAEDS) to meet the World Health Organisation surveillance target. There was a decline in the number of cases of juvenile onset Recurrent Respiratory Papillomatosis which is likely to be associated with the introduction of the National HPV Vaccination Program. The number of cases of severe complications of influenza was significantly less in 2016 (N=32) than in 2015 (N=84) and for the first time in the last nine years no deaths due to severe influenza were reported to the APSU. In June 2016 surveillance for microcephaly commenced to assist with the detection of potential cases of congenital Zika virus infection and during that time there were 21 confirmed cases - none had a relevant history to suspect congenital Zika virus infection, however, these cases are being followed up to determine the cause of microcephaly.

How useful is routine amniotic fluid and neonatal surface swab microbiology at Caesarean section?

BACKGROUND: Our aim was to evaluate the clinical impact of routine amniotic fluid and neonatal surface swab microbiology at Caesarean section. MATERIALS AND METHODS: Microbiology data from 1 537 neonates delivered by Caesarean section were analysed in the light of clinical outcome. RESULTS: 1 340 (87%) neonates had non-pathogenic bacteria or negative culture results from both amniotic fluid and surface swab samples. Of the 197 (13%) neonates with pathogenic bacteria, 22 (1.4%) were diagnosed with infection, but only in 6 (0.4%) were the bacteria presumed to be responsible for the infection. Amniotic fluid and surface swab culture had sensitivities of 54% and 35%, and positive predictive values of 14% and 17%, respectively, for detecting a neonate at risk of infection. CONCLUSION: Amniotic fluid and neonatal surface swab microbiology at Caesarean section contributes little if anything to postnatal management and can be safely dropped from operative routine.

[Familial predisposition and microbial etiology in dilated cardiomyopathy]. / Familiäre Prädisposition und mikrobielle Atiologie bei dilatativer Kardiomyopathie.

Cardiomyopathies are an important and diverse group of heart muscle diseases in which the heart muscle itself is structurally or functionally abnormal and in which coronary artery disease, hypertension, valvular and congenital heart disease are absent or do not sufficiently explain the observed myocardial abnormality. This often results in severe heart failure accompanied by arrhythmias and/or sudden death. Clinical and morphological diversity of cardiomyopathies can reflect the broad spectrum of distinct underlying molecular causes or genetic heterogeneity. In many cases the disease is inherited and is termed familial dilated cardiomyopathy (FDC), which may account for up to 30% of dilated cardiomyopathies (DCM). FDC is principally caused by genetic mutations in FDC genes that encode for cytoskeletal, nuclear and sarcomeric proteins in the cardiac myocyte. In addition, modifying genes, lifestyle and additional factors were reported to influence onset of disease, disease progression, and prognosis. The individual patient's phenotype may reflect a summation and/or interaction of the underlying mutation(s) with other genetic or environmental factors. During the last years major advances have been made in the understanding of the molecular and genetic basis of this type of disease. Nevertheless, much more progress in the identification of underlying mutations, susceptibility genes and modifier genes is important and indispensable for the development of new etiology-orientated forms of therapy. A pivotal role for autoimmunity in a substantial proportion of patients with DCM is supported by the presence of organ-specific autoantibodies, inflammatory infiltrates and pro-inflammatory cytotoxic cytokines. Furthermore, familial occurrence of DCM goes ahead with the presence of autoantibodies and abnormal cytokine profiles in first-degree relatives with asymptomatic left ventricular enlargement. These relatives suffer from a higher risk for the development of DCM after years. This suggests the involvement of a disrupted humoral and cellular immunity early in the development of the disease. There is reasonable clinical and experimental evidence, that DCM in addition may occur as late stage of cardiac infection and inflammation. The large spectrum of clinical forms depends on several factors such as genetic determinants of the infective agent, the genetics, age and gender of the host, and the host immunocompetence. In general, infectious agents, including viruses such as entero-, cytomegalo-, and adenoviruses, bacteria such as Borrelia burgdorferi or Chlamydia pneumoniae, protozoa and even fungi can cause inflammatory heart disease leading to DCM. The infectious agents most often identified in DCM nowadays are parvovirus B19, human herpesvirus 3, and Epstein-Barr virus. Persistence of these viruses within the myocardium is associated with reduction of ejection fraction after 6 months. For patients with suspected inflammatory heart disease the immunohistochemical detection of inflammatory infiltrates is related to poor outcome. Many faces of inflammatory heart disease coexist where different phases of the disease progress simultaneously: phase 1 is dominated by viral infection itself, phase 2 by the onset of (probably) multiple autoimmune reactions, and phase 3 by the progression to cardiac dilatation. Further investigations with regard to the etiology of structural heart diseases should include an intensive clinical investigation of the given patient. A possible family history including a pedigree should be ascertained and with regard to a possible inflammatory or viral heart disease, endomyocardial biopsies should be investigated by polymerase chain reaction and immunohistochemistry.

[Prevalence of Chlamydia trachomatis in newborn infants with respiratory problems]. / Prevalencia de Chlamydia trachomatis en recién nacidos con dificultad respiratoria.

The prevalence of C. trachomatis in neonates with respiratory distress was studied after 24 h of birth, nine patients were positive for C. trachomatis culture (12.9%). The chest radiographs showed six with hyaline membrane disease and two with pneumonia. One patient with treatment of ventilation mechanics developed bronchopulmonary dysplasia and was C. trachomatis positive in a second cell culture. Of the nine patients with C. trachomatis, eight were neonates preterm with low weight to the birth and with leukocytosis. Six patients were delivered by cesarean section. These results suggest that C. trachomatis can participate in an important way in the development of the distress respiratory in infants preterm.

Epidemiological views into possible components of paediatric combined vaccines in 2015.

Efforts to develop combined vaccines for childhood immunization schedules will during the next years focus on combined administration of the existing vaccines which have already shown their impact. First candidate components for more wide-spectrum combinations could be the new antigens against severe invasive infections caused by encapsulated bacteria. Multivalent pneumococcal and meningococcal group A and C conjugate vaccines are already in clinical trials, and the same is true of the first candidates for the meningococcal group B vaccine. Pneumococcal conjugate vaccines are also important in prevention of a large variety of respiratory infections. Since viruses are important causative agents of bronchiolitis and pneumonia, components of the paediatric combined vaccine should include at least respiratory syncytial virus, and possibly also other respiratory viruses like parainfluenza and adenoviruses. The third group of diseases to be considered from the preventive point of view are congenital infections, and vaccines against herpes simplex viruses, cytomegalovirus, or group B streptococci might be included in a combined vaccine to be administered to adolescents in order to afford protection to their future children.

Diagnóstico das infecçöes congênitas crônicas / Diagnosis of congenital chronic infections

As autoras do presente trabalho tentam, através de uma revisäo bibliográfica, esclarecer pontos dúbios que tornam o diagnóstico das Infecçöes Congênitas Crônicas muitas vezes difícil. Däo ênfase a ítens como diagnóstico clínico, radiológico e laboratorial (sorologia)