T-Cell Immune Responses in Newborns and Long-Term Sequelae in Congenital Cytomegalovirus Infection (CYTRIC Study).

OBJECTIVE: The objective of this study was to assess the role of T-lymphocyte immune responses in newborns with congenital cytomegalovirus (CMV) infection (cCMV) and their potential association with the development of long-term sequelae. STUDY DESIGN: A multicenter, prospective study from 2017 to 2022 was conducted across 8 hospitals in Spain. Blood samples were collected within the first month of life from neonates diagnosed with cCMV. Intracellular cytokine staining was employed to evaluate the presence of CMV-specific interferon-gamma (IFN-γ)-producing CD8+ and CD4+ T lymphocytes (CMV-IFN-γ-CD8+/CD4+) using flow cytometry. The development of sequelae, including hearing loss and neurologic impairment, was assessed during follow-up. RESULTS: In total, 64 newborns were included; 42 infants (65.6%) had symptomatic cCMV. The median age at the last follow-up visit was 25.3 months (IQR 20.1-34.4). Eighteen infants had long-term sequelae (28.1%), predominantly hearing loss (20.3%) and neurologic disorders (15.6%). No relationship was observed between total count or percentage of CMV-specific IFN-γ-CD8+ or CD4+ lymphocytes and long-term sequelae. Multivariable analysis demonstrated an association between lower total lymphocyte count and long-term sequelae (aOR 0.549, 95% CI: 0.323-0.833), which requires further study. CONCLUSIONS: CMV-specific IFN-γ-CD4+ and CD8+ T-lymphocyte responses in neonates with cCMV were not predictive of long-term sequelae.

Cytomegalovirus DNA Detection by Polymerase Chain Reaction in Cerebrospinal Fluid of Infants With Congenital Infection: Associations With Clinical Evaluation at Birth and Implications for Follow-up.

BACKGROUND: DNA detection of human cytomegalovirus (hCMV) in cerebrospinal fluid (CSF) by polymerase chain reaction (PCR) is a marker of central nervous system (CNS) involvement in congenital hCMV infection (cCMV), but its prognostic value is unknown. METHODS: A multicenter, retrospective study was performed using the Spanish Congenital Cytomegalovirus Infection Database (REDICCMV; http://www.cmvcongenito.es). Newborns with cCMV and a lumbar puncture performed were included and classified according to their hCMV-PCR in CSF result (positive/negative). Clinical characteristics, neuroimaging abnormalities, plasma viral load, and audiological and neurological outcomes of both groups were compared. RESULTS: A total of 136 neonates were included in the study: 21 (15.4%) with positive CSF hCMV-PCR and 115 (84.6%) with negative results. Seventeen patients (81%) in the positive group were symptomatic at birth compared with 52.2% of infants in the negative group (odds ratio [OR], 3.86; 95% confidence interval [CI], 1.28-14.1; P = .01). Only 4 asymptomatic newborns (6.8%) had a positive CSF hCMV-PCR. There were no differences between groups regarding the rate of microcephaly, neuroimaging abnormalities, neurological sequelae at 6 months of age, or plasma viral load. Sensorineural hearing loss (SNHL) at birth was associated with a positive CSF hCMV-PCR result (OR, 3.49; 95% CI, 1.08-11.27; P = .04), although no association was found at 6 months of age. CONCLUSIONS: A positive hCMV-PCR result in CSF is associated with symptomatic cCMV and SNHL at birth. However, no differences in neuroimaging studies, plasma viral load, or outcomes at 6 months were found. These results suggest that hCMV-PCR in CSF may not be a useful prognostic marker in cCMV.

Neonatal lethal hypophosphatasia: A case report and review of literature.

RATIONALE: Hypophosphatasia (HPP) is a very rare metabolic bone disease caused by loss-of-function mutations in the ALPL gene encoding the tissue nonspecific alkaline phosphatase. The severe neonatal form is considered lethal but insights into manifestations of the disease can help to increase our knowledge of the natural history for an early initiation of treatment and improvement of survival. PATIENT CONCERNS: We report the case of a newborn in which his fetal imaging showed findings of skeletal dysplasia disorder, considering initially achondroplasia as a potential diagnosis. DIAGNOSIS: A definitive diagnosis compatible with perinatal lethal HPP was established in the 1st days due to the presentation at birth with thoracic and pulmonary hypoplasia, bone hypomineralization, and undetectable alkaline phosphatase. The genetic analysis identified a new heterozygous c.413G>C mutation and another 1 c.473-2G>C previously described in the ALPL gene. OUTCOMES: The patient died on the 4th day by clinical course complicated without having started enzyme replacement therapy (ERT). Retrospectively, previous analyzes of the parents already showed both a decreased alkaline phosphatase. LESSONS: This report highlights the importance of prenatal differential diagnosis of bone dysplasia with the key biochemical marker of alkaline phosphatase in the parents. Substitutive ERT administered very soon after birth, seems to change the prognosis in these patients with neonatal HPP.

Documento del Grupo de Estudios Neonatales sobre el acompañamiento de padres y madres a recién nacidos en las Unidades de Cuidados Intensivos Neonatales y Maternidades durante la pandemia por SARS-CoV-2 / Document of the Neonatal Study Group on the accompaniment of parents of newborns in Neonatal Intensive Care Units and Maternity Units during the SARS-CoV-2 pandemic

El documento partede una reflexión sobre la política de restricción de visitas de los padres en las unidades neonatales y del acompañamientoen las plantas de maternidad que se aplicó en los hospitales en las primeras fases de la pandemia. Casi un año tras suinicio, un grupo de neonatólogos con espíritu autocrítico trabajamos de forma conjunta, en el marco del Grup d’EstudisNeonatals, con la voluntad de analizar los posibles efectos adversos de las medidas sobre aspectos fundamentales comoson el neurodesarrollo del recién nacido, la lactancia materna y la salud psicológica de los progenitores. Y, finalmente,desde el conocimiento y recursos que teníamos en ese momento, elaborar nuevas recomendaciones.(AU)

The document is based on a reflection on the policy ofrestricting parental visits in neonatal units and the accompanying in maternity wards that was applied in hospitals inthe early phases of the pandemic. Almost a year after its beginning, a group of neonatologists with a self-critical spiritworked together, within the framework of the Grup d’Estudis Neonatals, with the aim of analyzing the possible adverseeffects of the measures on fundamental aspects such as the neurodevelopment of the newborn, breastfeeding andthe psychological health of the parents. And, finally, from the knowledge and resources we had at that time, to developnew recommendations.(AU)

El document parteix d’una reflexiósobre la política de restricció de visites dels pares a les unitats neonatals i de l’acompanyament a les plantes dematernitat que es va aplicar als hospitals a les primeres fases de la pandèmia. Gairebé un any després del seu inici,un grup de neonatòlegs amb esperit autocrític treballem conjuntament, en el marc del Grup d’Estudis Neonatals,amb la voluntat d’analitzar els possibles efectes adversos de les mesures sobre aspectes fonamentals com sónel neurodesenvolupament del nounat, la lactància materna i la salut psicològica dels progenitors. I, finalment, desdel coneixement i recursos que teníem en aquell moment, elaborar noves recomanacions.(AU)

Febre i úlceres genitals en una nena de 2 anys / No disponible

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