Early neurological impairment and severe anemia in a newborn with Pearson syndrome

BACKGROUND: Pearson marrow-pancreas syndrome (PS) is usually a fatal mitochondrial disease, mostly diagnosed during infancy or postmortem. PS is caused by the deletions or duplications of mitochondrial DNA (mtDNA). The tissue distribution and relative proportions of expressed abnormal mtDNA determine the phenotype and the clinical course. MATERIALS AND METHODS: We describe the case of a term baby boy who was diagnosed with PS early in the neonatal period due to severe aregenerative anemia and persistent lactic acidosis. RESULTS: His neurological examination was abnormal since birth. Brain magnetic resonance imaging (MRI) at term was abnormal, indicating that mitochondrial encephalopathy in PS can be already manifested in the neonatal period. To our knowledge, neonatal encephalopathy in PS has not been previously described. CONCLUSION: PS is a rare condition diagnosed in the newborn. It should be suspected in the presence of severe anemia and persistent lactic acidosis, and may manifest with early encephalopathy.

Complete Maxillo-Mandibular Syngnathia in a Newborn with Multiple Congenital Malformations.

Syngnathia is an extremely rare condition involving congenital fusion of the maxilla with the mandible. Clinical presentations vary from simple mucosal bands (synechiae) to complete bony fusion (synostosis). Most cases are unilateral incomplete fusions. We report the case of a severely growth-retarded newborn infant with complete synostosis of the mandible with the maxilla and the zygoma associated with cleft palate, choanal atresia, deafness, delayed cerebral white matter development, and genital and limb malformations. Extensive genetic analysis did not reveal any mutations. This association of multiple congenital malformations may represent an entity distinct from previously described syndromes associated with syngnathia.

Long-term outcome of preterm infants treated with nasal continuous positive airway pressure

RESUME La ventilation en pression positive continue (Continuous Positive Airway Pressure, CPAP), utilisée pour la première fois chez. les prématurés en 1971, est une technique actuellement très largement utilisée dans les unités néonatales. L'utilisation de la CPAP présente de nombreux avantages à court terme: diminution de la fraction maximale inspirée d'oxygène, de la durée de l'oxygénothérapie, du taux d'intubation et donc du recours à une ventilation mécanique, réduction de l'utilisation des amines, des curares et de la morphine, possible prévention de l'apparition d'une bronchodysplasie pulmonaire, et possibles réductions du nombre d'infections postnatales et des entérocolites nécrosantes. Mais peu d'études existent concernant les effets à long terme de la CPAP sur le neurodéveloppement et la croissance, qui constituent l'objectif de la présente étude. L'utilisation systématique de la CPAP comme alternative à la ventilation mécanique a été introduite à Lausanne en 1998. La population cible de cette étude est constituée des prématurés nés à moins de 32 semaines de gestation ou pesant moins de 1500 g à la naissance; ils ont été systématiquement suivis jusqu'en âge préscolaire dans le cadre de l'étude de cohorte «Unité de Développement, CHUV». L'originalité de ce travail réside dans le fait d'évaluer le neurodéveloppement et la croissance à long terme d'enfants prématurés traités préférentiellement avec la CPAP, en comparaison avec un groupe historique contrôle traité par d'autres modes ventilatoires, en tenant compte de nombreux autres paramètres néonataux. Du point de vue du neurodéveloppement, l'usage, de la CPAP montre une tendance à diminuer l'incidence d'hémorragie intraventriculaire et le risque d'avoir un mauvais neurodéveloppement à 6 mois. Ces résultats positifs sur le neurodéveloppement s'estompent à l'âge de 18 mois, où persiste néanmoins une valeur plus élevée du quotient de développement, et disparaissent complètement en âge préscolaire. Du point de vue de la croissance, l'utilisation de la CPAP ne montre aucun effet sur le poids, mais par contre un effet positif sur la taille à 6 et 18 mois et sur le périmètre crânien à 6 mois, 18 mois et en âge préscolaire. Malgré le caractère non randomisé de cette étude, les résultats positifs obtenus ici permettent sans conteste de s'assurer d'une utilisation de la CPAP sans effet négatif sur le neurodéveloppement et la croissance, et fournissent donc un argument supplémentaire pour l'utilisation systématique de la CPAP chez les prématurés.

Young infants' triangular communication with their parents in the context of maternal postpartum psychosis: Four case studies

With increasing data on the dynamics of normative couples as they transition to parenthood and become a triad, the need for greater understanding of the impact of parental psychopathology on this transition has become clear. The goal of the current article is to begin exploring this area that has received little attention to date, by describing case examples from a study of clinical families as they transitioned to parenthood. Four representative cases were selected from a pool of 13 mother-father-baby triads, for whom the mother had been hospitalized conjointly with her infant due to a psychotic episode during the postpartum period. The families were observed as part of a clinical consultation that included a semistructured play paradigm known as the Lausanne Trilogue Play (LTP; E. Fivaz-Depeursinge, & A. Corboz-Warnery, 1999). Interactions were scored using standardized measures as well as clinical impressions. All families from the clinical sample were noted to struggle and frequently failed to achieve the goals of play. The impact on the infants in terms of their developing sense of self as well as their defensive strategies in this context are discussed, with clinical implications explored.

Intrauterine growth restriction and absent or reverse end-diastolic blood flow in umbilical artery (Doppler class II or III): A retrospective study of short- and long-term fetal morbidity and mortality.

OBJECTIVE: Absent or reverse end-diastolic flow (Doppler II/III) in umbilical artery is correlated with poor perinatal outcome, particularly in intrauterine growth restricted (IUGR) fetuses. The optimal timing of delivery is still controversial. We studied the short- and long-term morbidity and mortality among these children associated with our defined management. STUDY DESIGN: Sixty-nine IUGR fetuses with umbilical Doppler II/III were divided into three groups; Group 1, severe early IUGR, no therapeutic intervention (n = 7); Group 2, fetuses with pathological biophysical profile, immediate delivery (n = 35); Group 3, fetuses for which expectant management had been decided (n = 27). RESULTS: In Group 1, stillbirth was observed after a mean delay of 6.3 days. Group 2 delivered at an average of 31.6 weeks and two died in the neonatal period (6%). In Group 3 after a mean delay of 8 days, average gestational age at delivery was 31.7 weeks; two intra uterine and four perinatal deaths were observed (22%). Long-term follow-up revealed no sequelae in 25/31 (81%) and 15/18 (83%), and major handicap occurred in 1 (3%) and 2 patients (11%), respectively, for Groups 2 and 3. CONCLUSION: Fetal mortality was observed in 22% of this high risk group. After a mean period of follow-up of 5 years, 82% of infants showed no sequelae. According to our management, IUGR associated with umbilical Doppler II or III does not show any benefit from an expectant management in term of long-term morbidity.

Renal effects of adenosine A1-receptor blockade with 8-cyclopentyl-1,3-dipropylxanthine in hypoxemic newborn rabbits.

The key role of intrarenal adenosine in mediating the hypoxemic acute renal insufficiency in newborn rabbits has been well demonstrated using the nonspecific adenosine antagonist theophylline. The present study was designed to define the role of adenosine A1 receptors during systemic hypoxemia by using the specific A1-receptor antagonist 8-cyclopentyl-1,3-dipropylxanthine (DPCPX). Renal function parameters were assessed in 31 anesthetized and mechanically ventilated newborn rabbits. In normoxia, DPCPX infusion induced a significant increase in diuresis (+44%) and GFR (+19%), despite a significant decrease in renal blood flow (RBF) (-22%) and an increase in renal vascular resistance (RVR) (+37%). In hypoxemic conditions, diuresis (-19%), GFR (-26%), and RBF (-35%) were decreased, whereas RVR increased (+33%). DPCPX administration hindered the hypoxemia-induced decrease in GFR and diuresis. However, RBF was still significantly decreased (-27%), whereas RVR increased (+22%). In all groups, the filtration fraction increased significantly. The overall results support the hypothesis that, in physiologic conditions, intrarenal adenosine plays a key role in regulating glomerular filtration in the neonatal period through preferential A1-mediated afferent vasoconstriction. During a hypoxemic stress, the A1-specific antagonist DPCPX only partially prevented the hypoxemia-induced changes, as illustrated by the elevated RVR and drop in RBF. These findings imply that the contribution of intrarenal adenosine to the acute adverse effects of hypoxemia might not be solely mediated via the A1 receptor.

L'Ensenyament del llenguatge a infants autistes

En aquest treball, s’expliquen les característiques de l’autisme i les anomalies lingüístiques que comporta, les quals condicionen els mètodes d’aprenentatge del llenguatge. També s’esmenten els principals mètodes generals d’ensenyament i es comparen amb la realitat a través d’entrevistes a professionals que ensenyen el llenguatge a infants autistes.

El Mercat de les llars d'infants a Barcelona

La realització d’aquest treball s’ha centrat principalment en intentar trobar resposta a la següent pregunta: “Hi ha inadequació entre l’oferta i la demanda en el mercat de les llars d’infants a Barcelona?”. Per tal de desenvolupar aquest tema, s’han estudiat diferents aspectes que han servit per entendre aquest mercat i per tenir una petitanoció de la seva extraordinària complexitat.Primerament, s’han treballat i descrit els assumptes relacionats amb l’oferta de llars d’infants, com ara la situació actual en què es troba Barcelona, les restriccions que existeixen a la creació de noves llars d’infants, així com els costos i beneficis que determinen el nivell d’oferta de places. A més a més, s’ha comparat l’oferta pública amb la privada amb l’ajuda de diverses taules obtingudes mitjançant el treball de camp realitzat explicat més endavant i finalment s’ha estudiat per què no creix més l’oferta donat l’excés de demanda que hi ha en aquest mercat.En segon lloc, com era d’esperar, es parla de la demanda a les llars d’infants. En aquest apartat es pot trobar la descripció de l’estat actual de la demanda a Barcelona, es detalla tot el procés d’obtenció de dades per tal de trobar la demanda en els diversosdistrictes i s’explica breument el fenomen de la demanda amagada.En tercer lloc, es troba la part principal del treball, allà on es dóna resposta a lapregunta formulada a l’inici del treball. Es posen en comú l’oferta i la demanda, es creenambdues corbes i se n’estudia el desequilibri i les seves possibles causes.En un quart punt es tracta sobre l’efecte que té aquest desequilibri entre oferta idemanda sobre el mercat laboral de la dona i quins en són els principals perjudicats en lasocietat actual.Finalment, es fan diferents propostes per tal de donar una solució al desequilibriexistent entre l’oferta i la demanda de llars d’infants a Barcelona. Es pretén esbrinar la manera mitjançant la qual es podria millorar aquesta diferència entre oferta i demanda i, per tant, poder assolir un punt més proper a l’equilibri teòric que el que hi ha actualment.Pel que fa a la metodologia seguida, s’ha realitzat un treball de camp que ha consistit en demanar informació a un nombre prou significatiu de llars d’infants de laciutat de Barcelona per tal d’aconseguir amb certa fiabilitat algunes de les dades que nohan estat possibles de trobar, com per exemple la demanda en excés mitjana per districte.Amb aquesta ajuda, s’han pogut realitzar tota una sèrie de taules estadístiques molt útils pel desenvolupament del treball.Les fonts d’informació utilitzades han estat nombroses, entre les quals es troben:primerament, l’Administració (a tots els nivells: Ajuntament de Barcelona, Diputació de Barcelona, Generalitat de Catalunya i Estat); en segon lloc, diversos articles de diaris i revistes que han servit per conèixer la importància que té aquest tema avui en dia en la societat; finalment, els testimonis de propietaris d’algunes llars d’infants de la ciutat de Barcelona i altres persones relacionades amb aquest àmbit com ara treballadors o mares i pares d’infants de zero a tres anys.

Maternal side-effects after multiple courses of antenatal corticosteroids (MACS): the three-month follow-up of women in the randomized controlled trial of MACS for preterm birth study.

OBJECTIVE: A single course of antenatal corticosteroids (ACS) is associated with a reduction in respiratory distress syndrome and neonatal death. Multiple Courses of Antenatal Corticosteroids Study (MACS), a study involving 1858 women, was a multicentre randomized placebo-controlled trial of multiple courses of ACS, given every 14 days until 33+6 weeks or birth, whichever came first. The primary outcome of the study, a composite of neonatal mortality and morbidity, was similar for the multiple ACS and placebo groups (12.9% vs. 12.5%), but infants exposed to multiple courses of ACS weighed less, were shorter, and had smaller head circumferences. Thus for women who remain at increased risk of preterm birth, multiple courses of ACS (every 14 days) are not recommended. Chronic use of corticosteroids is associated with numerous side effects including weight gain and depression. The aim of this postpartum assessment was to ascertain if multiple courses of ACS were associated with maternal side effects. METHODS: Three months postpartum, women who participated in MACS were asked to complete a structured questionnaire that asked about maternal side effects of corticosteroid use during MACS and included the Edinburgh Postnatal Depression Scale. Women were also asked to evaluate their study participation. RESULTS: Of the 1858 women randomized, 1712 (92.1%) completed the postpartum questionnaire. There were no significant differences in the risk of maternal side effects between the two groups. Large numbers of women met the criteria for postpartum depression (14.1% in the ACS vs. 16.0% in the placebo group). Most women (94.1%) responded that they would participate in the trial again. CONCLUSION: In pregnancy, corticosteroids are given to women for fetal lung maturation and for the treatment of various maternal diseases. In this international multicentre randomized controlled trial, multiple courses of ACS (every 14 days) were not associated with maternal side effects, and the majority of women responded that they would participate in such a study again.

New evidence for the social embeddedness of infants' early triangular capacities.

Infants appear to be active participants in complex interactional sequences with their parents far earlier than previously theorized. In this report, we document the capacity of 3-month-old infants to share attention with two partners (mothers and fathers) simultaneously, and trace links between this capacity and early family group-level dynamics. During comprehensive evaluations of the family's emergent coparenting alliance completed in 113 homes, we charted infants' eye gaze patterns during two different mother-father-infant assessment paradigms. Triangular capacities (operationalized as the frequency of rapid multishift gaze transitions between parents during interactions) were stable across interaction context. Infants exhibiting more advanced triangular capacities belonged to families showing evidence of better coparental adjustment. Theoretical and practice implications of these findings are discussed.

Neonatal mortality in infants with low birth weigh

Objective To evaluate the factors associated with neonatal mortality in infant born with low birth weight. Method Cross-sectional study that analyzed data from 771 live births with low birth weight (<2500 g) in the city of Cuiabá, MT, in 2010, of whom 54 died in the neonatal period. We obtained data from the Information System on Live Births and Mortality, by integrated linkage. Results In multiple logistic regression, neonatal mortality was associated with: number of prenatal visits less than 7 (OR=3.80;CI:1,66-8,70); gestational age less than 37 weeks (OR=4.77;CI:1.48-15.38), Apgar score less than 7 at the 1st minute (OR=4.25;CI:1.84-9.81) and the 5th minute (OR=5.72,CI:2.24-14.60) and presence of congenital anomaly (OR=14.39;IC:2.72-76.09). Conclusion Neonatal mortality in infants with low birth weight is associated with avoidable factors through adequate attention to prenatal care, childbirth and infants.


Treatment of skin lesions in newborn children: meeting the needs of nursing staff

Objective To understand, together with nursing staff, the care needed to treat skin lesions in newborn children hospitalized in a neonatal unit. Method Qualitative research, of the convergent care type. The data was collected through semi-structured interviews, which were conducted from November to December 2012, in the neonatal unit of a hospital in southern Brazil. The participants were four auxiliary nurses, six nursing technicians and four nurses. Results The following three categories were designated: questions about what can be used in relation to newborn children; hospitalization can cause lesions on the skin of newborn children; and knowledge about care promotes professional autonomy. Conclusion There is an urgent need for staff to know more about the treatment of skin lesions, which would provide safer care for newborn children and would also support the autonomy of professional nurses in providing that care.


Changes in physiological and behavioral parameters of preterm infants undergoing body hygiene: a systematic review

Objective To verify the effect of bathing on the body temperature of preterm infants (PTI). Method Systematic review conducted in the following bibliographic electronic sources: Biblioteca Virtual em Saúde/Lilacs (BVS), Cumulated Index of Nursing and Allied Health Literature (CINAHL), Cochrane Library, Google Scholar, PubMed, SCOPUS and Web of Science, using a combination of search terms, keywords and free terms. The review question was adjusted to the PICO acronym (Patient/population, Intervention, Control/comparative intervention, Outcome). The selected publications were evaluated according to levels of evidence and grades of recommendation for efficacy/effectiveness studies, as established by the Joanna Briggs Institute. Results Eight hundred and twenty four (824) publications were identified and four studies met the inclusion criteria, of which three analyzed the effect of sponge baths and the effect of immersion baths. Conclusion Sponge baths showed a statistically significant drop in body temperature, while in immersion baths the body temperature remained stable, although they studied late preterm infants.

Präoperative Azidose und Entwicklung von Säuglingen nach Operation angeborener Herzfehler Preoperative acidosis and infant development following surgery for congenital heart disease.

OBJECTIVE: Prenatal diagnosis has been shown to decrease pre-operative acidosis and might prevent the occurrence of disturbed developmental outcome. The aim of this study is to evaluate parameters for acidosis and their predictive value on developmental outcome in newborns with congenital heart disease. METHODS: A total of 117 patients requiring surgery for structural heart disease in the first 31 days of life were included. Diagnosis was established either pre- or postnatally. Preoperative values of lactate, pH and base excess levels were compared to the occurrence of disturbed developmental outcome, i.e. an underperformance of more than 10% on the P90 of a standardized Dutch developmental scale. Patients were divided into groups according to blood levels of acidosis parameters, using receiver operating characteristics curves to determine cut-off values for pH, base excess and lactate. RESULTS: No significant difference in developmental outcome was found using values for pH or base excess as a cut-off level. Preoperative lactate values exceeding 6.1 mmol/l resulted in a significant increase in impaired development compared to infants with a pre-operative lactate lower than 6.1 mmol/l: 40.9% vs 15.1% in (p=0.03). CONCLUSIONS: Pre-operative lactate values might have a prognostic value on developmental outcome in newborns with congenital heart disease. The limited prognostic value of pH can be explained by the fact that pH can be easily corrected, while lactate better reflects the total oxygen debt experienced by these patients.