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1.
Neurogenetics ; 25(3): 281-286, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38498292

RESUMEN

Mannosyl-oligosaccharide glucosidase - congenital disorder of glycosylation (MOGS-CDG) is determined by biallelic mutations in the mannosyl-oligosaccharide glucosidase (glucosidase I) gene. MOGS-CDG is a rare disorder affecting the processing of N-Glycans (CDG type II) and is characterized by prominent neurological involvement including hypotonia, developmental delay, seizures and movement disorders. To the best of our knowledge, 30 patients with MOGS-CDG have been published so far. We described a child who is compound heterozygous for two novel variants in the MOGS gene. He presented Early Infantile Developmental and Epileptic Encephalopathy (EI-DEE) in the absence of other specific systemic involvement and unrevealing first-line biochemical findings. In addition to the previously described features, the patient presented a Hirschprung disease, never reported before in individuals with MOGS-CDG.


Asunto(s)
Trastornos Congénitos de Glicosilación , Secuenciación del Exoma , Humanos , Masculino , Trastornos Congénitos de Glicosilación/genética , Trastornos Congénitos de Glicosilación/diagnóstico , Lactante , alfa-Glucosidasas/genética , Mutación/genética , Espasmos Infantiles/genética , Espasmos Infantiles/diagnóstico , Epilepsia/genética , Epilepsia/diagnóstico , Discapacidades del Desarrollo/genética , Discapacidades del Desarrollo/diagnóstico
2.
Eur J Pediatr ; 183(6): 2625-2636, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38492032

RESUMEN

Neonates face heightened susceptibility to drug toxicity, often exposed to off-label medications with dosages extrapolated from adult or pediatric studies. Premature infants in Neonatal Intensive Care Units (NICUs) are particularly at risk due to underdeveloped pharmacokinetics and exposure to multiple drugs. The study aimed to survey commonly used medications with a higher risk of ototoxicity and nephrotoxicity in Spanish and Italian neonatal units. A prospective cross-sectional study was conducted in Italian and Spanish neonatal units using a web-based survey with 43 questions. A modified Delphi method involved experts refining the survey through online consensus. Ethical approval was obtained, and responses were collected from January to July 2023. The survey covered various aspects, including drug-related ototoxic and nephrotoxic management, hearing screening, and therapeutic drug monitoring. Responses from 131 participants (35.9% from Spain and 64.1% from Italy) revealed awareness of drug toxicity risks. Varied practices were observed in hearing screening protocols, and a high prevalence of ototoxic and nephrotoxic drug use, including aminoglycosides (100%), vancomycin (70.2%), loop diuretics (63.4%), and ibuprofen (62.6%). Discrepancies existed in guideline availability and adherence, with differences between Italy and Spain in therapeutic drug monitoring practices. CONCLUSIONS: The study underscores the need for clinical guidelines and uniform practices in managing ototoxic and nephrotoxic drugs in neonatal units. Awareness is high, but inconsistencies in practices indicate a necessity for standardization, including the implementation of therapeutic drug monitoring and the involvement of clinical pharmacologists. Addressing these issues is crucial for optimizing neonatal care in Southern Europe. WHAT IS KNOWN: • Neonates in intensive care face a high risk of nephrotoxicity and ototoxicity from drugs like aminoglycosides, vancomycin, loop diuretics, and ibuprofen. • Therapeutic drug monitoring is key for managing these risks, optimizing dosing for efficacy and minimizing side effects. WHAT IS NEW: • NICUs in Spain and Italy show high drug toxicity awareness but differ in ototoxic/nephrotoxic drug management. • Urgent need for standard guidelines and practices to address nephrotoxic risks from aminoglycosides, vancomycin, loop diuretics, and ibuprofen.


Asunto(s)
Aminoglicósidos , Unidades de Cuidado Intensivo Neonatal , Ototoxicidad , Vancomicina , Humanos , Italia , Recién Nacido , Unidades de Cuidado Intensivo Neonatal/estadística & datos numéricos , Estudios Transversales , Estudios Prospectivos , España , Aminoglicósidos/efectos adversos , Ototoxicidad/etiología , Vancomicina/efectos adversos , Monitoreo de Drogas/métodos , Monitoreo de Drogas/estadística & datos numéricos , Ibuprofeno/efectos adversos , Inhibidores del Simportador de Cloruro Sódico y Cloruro Potásico/efectos adversos , Encuestas y Cuestionarios , Femenino , Enfermedades Renales/inducido químicamente , Enfermedades Renales/epidemiología , Recien Nacido Prematuro , Masculino
3.
Eur J Pediatr ; 182(9): 4247-4251, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-37458816

RESUMEN

This prospective observational study aimed to evaluate whether lung fluids, assessed by lung ultrasonography and transthoracic electrical bioimpedance (TEB), may be influenced by the presence of a haemodynamically significant patent ductus arteriosus (hsPDA) in very preterm infants during the transitional period. Infants < 32 weeks of gestational age (GA) admitted to the neonatal intensive care units of IRCCS AOU Bologna and Niguarda Metropolitan Hospital of Milan (Italy) underwent a daily assessment of a lung ultrasound score (LUS) and of a TEB-derived index of thoracic fluid contents (TFC) during the first 72 h after birth. Echocardiographic scans were simultaneously performed to evaluate the concomitant ductal status (hsPDA vs. restrictive or closed duct). The correlation between LUS, TFC, and the ductal status was tested using generalized estimating equations. Forty-six infants (median GA: 29 [interquartile range, IQR: 27-31] weeks; median birth weight: 1099 [IQR: 880-1406] g) were included. At each daily evaluation, the presence of a hsPDA was associated with significantly higher LUS and TFC compared with a restrictive or closed ductus (p < 0.01 for all comparisons). These results were confirmed significant even after adjustment for GA and for the ongoing modality of respiratory support. Conclusion: Even during the first 72 h of life, the presence of a hsPDA determines a significant increase in pulmonary fluids which can be non-invasively detected and monitored over time using lung ultrasonography and TEB. What is Known: • Lung ultrasonography provides a non-invasive assessment of lung fluids and is widely used in neonatal settings. • In preterm infants, the persistence of a haemodynamically significant patent ductus arteriosus (hsPDA) over the first weeks can negatively affect pulmonary outcomes. What is New: • The presence of aan hsPDA is associated with increased lung fluids since early postnatal phases. • Lung ultrasonography and transthoracic electrical bioimpedance can effectively monitor lung fluid clearance in preterm infants with a hsPDA during the transitional period, with potential clinical implications.

4.
Eur J Pediatr ; 182(3): 1039-1047, 2023 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-36562832

RESUMEN

This study aims to evaluate whether the assessment of a lung ultrasound score (LUS) by lung ultrasonography and of thoracic fluid contents (TFC) by electrical cardiometry may predict RDS severity and the development of bronchopulmonary dysplasia (BPD) in preterm infants with respiratory distress (RDS). Infants ≤ 34 weeks' gestation admitted with RDS to two neonatal intensive care units were prospectively enrolled in this observational study. A simultaneous evaluation of LUS and TFC was performed during the first 72 h. The predictivity of LUS and TFC towards mechanical ventilation (MV) need after 24 h and BPD development was evaluated using receiver operating characteristic analysis. Sixty-four infants were included. The area under the curve (AUC) for the prediction of MV need was 0.851 (95%CI, 0.776-0.925, p < 0.001) for LUS and 0.793 (95%CI, 0.724-0.862, p < 0.001) for TFC, while an AUC of 0.876 (95%CI, 0.807-0.946, p < 0.001) was obtained for combined LUS and TFC evaluation. LUS and TFC AUC for BPD prediction were 0.769 (95%CI, 0.697-0.842, p < 0.001) and 0.836 (95%CI, 0.778-0.894, p < 0.001), respectively, whereas their combined assessment yielded an AUC of 0.867 (95%CI, 0.814-0.919, p < 0.001). LUS ≥ 11 and TFC ≥ 40 were identified as cut-off values for MV need prediction, whereas LUS ≥ 9 and TFC ≥ 41.4 best predicted BPD development.   Conclusion: A combined evaluation of LUS and TFC by lung ultrasonography and EC during the first 72 h may represent a useful predictive tool towards short- and medium-term pulmonary outcomes in preterm infants with RDS. What is Known: • Lung ultrasonography is largely used in neonatal intensive care and can contribute to RDS diagnosis in preterm infants. • Little is known on the diagnostic and predictive role of TFC, measured by transthoracic electrical bioimpedance, in neonatal RDS. What is New: • Combining lung ultrasonography and TFC evaluation during the first 72 h can improve the prediction of RDS severity and BPD development in preterm infants with RDS and may aid to establish tailored respiratory approaches to improve these outcomes.


Asunto(s)
Displasia Broncopulmonar , Síndrome de Dificultad Respiratoria del Recién Nacido , Recién Nacido , Humanos , Displasia Broncopulmonar/diagnóstico por imagen , Recien Nacido Prematuro , Pulmón/diagnóstico por imagen , Ultrasonografía
5.
J Pediatr ; 246: 40-47.e5, 2022 07.
Artículo en Inglés | MEDLINE | ID: mdl-35257740

RESUMEN

OBJECTIVE: To investigate the efficacy and safety of nebulized poractant alfa (at 200 and 400 mg/kg doses) delivered in combination with nasal continuous positive airway pressure compared with nasal continuous positive airway pressure alone in premature infants with diagnosed respiratory distress syndrome. STUDY DESIGN: This randomized, controlled, multinational study was conducted in infants at 280/7 to 326/7 weeks of gestation. The primary outcome was the incidence of respiratory failure in the first 72 hours of life, defined as needing endotracheal surfactant and/or mechanical ventilation owing to prespecified criteria. Secondary outcomes included the time to respiratory failure in the first 72 hours, duration of ventilation, mortality, incidence of bronchopulmonary dysplasia, and major associated neonatal comorbidities. In addition, the safety and tolerability of the treatments were assessed reporting the number and percentage of infants with treatment-emergent adverse events and adverse drug reactions during nebulization. RESULTS: In total, 129 infants were randomized. No significant differences were observed for the primary outcome: 24 (57%), 20 (49%), and 25 (58%) infants received endotracheal surfactant and/or mechanical ventilation within 72 hours in the poractant alfa 200 mg/kg, poractant alfa 400 mg/kg, and nasal continuous positive airway pressure groups, respectively. Similarly, secondary respiratory outcomes did not differ among groups. Enrollment was halted early owing to a change in the benefit-risk balance of the intervention. Nebulized poractant alfa was well-tolerated and safe, and no serious adverse events were related to the study treatment. CONCLUSIONS: The intervention did not decrease the likelihood of respiratory failure within the first 72 hours of life. TRIAL REGISTRATION: ClinicalTrials.gov: NCT03235986.


Asunto(s)
Enfermedades del Prematuro , Surfactantes Pulmonares , Síndrome de Dificultad Respiratoria del Recién Nacido , Insuficiencia Respiratoria , Productos Biológicos , Presión de las Vías Aéreas Positiva Contínua , Humanos , Recién Nacido , Enfermedades del Prematuro/epidemiología , Fosfolípidos , Surfactantes Pulmonares/uso terapéutico , Síndrome de Dificultad Respiratoria del Recién Nacido/tratamiento farmacológico , Síndrome de Dificultad Respiratoria del Recién Nacido/epidemiología , Insuficiencia Respiratoria/tratamiento farmacológico , Tensoactivos/uso terapéutico
6.
Eur J Pediatr ; 181(6): 2319-2328, 2022 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-35243543

RESUMEN

Patent ductus arteriosus closure by catheter-based interventions has become the preferred therapeutic choice. However, hemodynamic perturbances associated to this procedure have not yet been investigated. This study sought to examine the on-site hemodynamic impact caused by the procedure in preterm neonates. In this study, hemodynamic monitoring was obtained in a non-invasive way using electrical cardiometry in five preterm infants who underwent percutaneous patent ductus arteriosus closing at ASST Grande Ospedale Metropolitano Niguarda of Milan. All five infants underwent successful transcatheter closures. All patients experienced immediate hemodynamic changes upon ductal closing. Significative modifications occurred mainly in heart contractility, cardiac output, and stroke volume. In three cases, there was also a significative increase of systemic vascular resistance which persisted for 4 h after closing. While in two cases they spontaneously reduced with an amelioration of cardiac output and contractility, in the other case they were persistently high, associated with an hypertensive crisis and a progressive reduction of cardiac functions. For these reasons, milrinone was started and hemodynamic parameters returned normal in about 3 h, so therapy was discontinued.   Conclusions: Our single-center, prospective, consecutive, case series demonstrated hemodynamic aberrations due to sudden closure of a patent ductus arteriosus. Moreover, post procedural hemodynamic monitoring is important to precociously detect possible cardiac impairment and start an adequate therapy. What is Known: • It has previously suggested a temporarily impairment in cardiac output following patent ductus arteriosus closing. • Little is known about the other hemodynamic parameters during the procedure and how they change in the next hours according to the new hemodynamic status. What is New: • The persistence of increased systemic vascular resistance after percutaneous closure of ductus arteriosus could suggest the occurrence of hemodynamic complications. • Electrical cardiometry was useful to early detect postoperative hemodynamic changes.


Asunto(s)
Conducto Arterioso Permeable , Conducto Arterial , Gasto Cardíaco , Conducto Arterioso Permeable/diagnóstico , Conducto Arterioso Permeable/cirugía , Humanos , Lactante , Recién Nacido , Recien Nacido Prematuro , Estudios Prospectivos , Resultado del Tratamiento
7.
Am J Perinatol ; 39(13): 1401-1404, 2022 10.
Artículo en Inglés | MEDLINE | ID: mdl-33723835

RESUMEN

OBJECTIVE: Electrical cardiometry is an impedance-based monitoring technique that provides data on several hemodynamic parameters in a noninvasive way. There is limited information on clinical utility of the application of this technique in neonates. STUDY DESIGN: In this study, we describe the case of a preterm neonate born at 302/7 weeks of gestational age who developed severe systemic infection with fluid refractory septic shock on day 2 of life. DISCUSSION: Electrical cardiometry was used and proved very helpful in real-time guiding the choice and the dosing of the most appropriate inotrope drugs in this patient. In addition, it promptly underlined an abrupt drop of systemic vascular resistances occurring after administration of the first dose of antibiotic, thus warning the attending neonatologist to institute appropriate treatment before the clinical conditions could further worsen. CONCLUSION: This case report suggests that electrical cardiometry could be a useful tool in assessing, monitoring, and guiding care of neonates who develop severe septic shock. We suggest that electrical cardiometry is a promising approach in the management strategies of such patients that warrants informative clinical trials. KEY POINTS: · Electrical cardiometry was helpful in real-time decision-making.. · Electrical cardiometry reported hemodynamic perturbations before worsening of clinical conditions.. · Electrical cardiometry should be included in the management of critical patients..


Asunto(s)
Monitorización Hemodinámica , Choque Séptico , Antibacterianos/uso terapéutico , Monitorización Hemodinámica/métodos , Hemodinámica , Humanos , Recién Nacido , Unidades de Cuidado Intensivo Neonatal , Choque Séptico/diagnóstico , Choque Séptico/terapia
8.
Am J Perinatol ; 37(S 02): S54-S56, 2020 09.
Artículo en Inglés | MEDLINE | ID: mdl-32898883

RESUMEN

OBJECTIVE: This study aimed to describe the first two cases of electrical cardiometry applied to newborn with hypoplastic left heart syndrome for hemodynamical assessment in the first days of life before surgical correction and see if this can help decision making process in these patients. STUDY DESIGN: We describe two case series of two full-term newborn with hypoplastic left heart syndrome in the Neonatal Intensive Care Unit, ASST Grande Ospedale Metropolitano Niguarda, between December 2019 and January 2020. RESULTS: Case 1 was persistently hemodynamically stable with prostaglandin E1 infusion at 0.01 mcg/kg/min, showing good capillary refill time, good diuresis, no difference between pre- and postductal values of oxygen saturation or blood pressure. Electrical cardiometry monitoring constantly showed cardiac output values higher than 300 mL/kg/min. Case 2 showed poor clinical condition needing prostaglandin E1 infusion up to 0.05 mcg/kg/min, intubation and septostomy associated with low cardiac output around 190 mL/kg/min. Once cardiac output has begun to rise and reached values constantly over 300 mL/kg/min, clinical condition improved with amelioration in oxygen saturation, diuresis, blood pressure, and blood gas analysis values. She was then extubated and finally clinically stable until surgery with minimal infusion of prostaglandin E1 at 0.01 mcg/kg/min. CONCLUSION: This case highlights how hemodynamic information provided by electrical cardiometry can be used to supplement the combined data from all monitors and the clinical situation to guide therapy in these newborns waiting surgery. KEY POINTS: · This is the first report of electrical cardiometry (EC) use in newborn with hypoplastic left heart syndrome (HLHS).. · In HLHS patients, it is impossible to measure cardiac output without being invasive.. · EC helps in guiding therapy in HLHS patients in a noninvasive way..


Asunto(s)
Gasto Cardíaco/fisiología , Síndrome del Corazón Izquierdo Hipoplásico/diagnóstico , Síndrome del Corazón Izquierdo Hipoplásico/fisiopatología , Monitoreo Fisiológico , Ecocardiografía , Femenino , Humanos , Síndrome del Corazón Izquierdo Hipoplásico/cirugía , Recién Nacido , Masculino , Espera Vigilante
9.
J Perinatol ; 2024 Sep 17.
Artículo en Inglés | MEDLINE | ID: mdl-39289555

RESUMEN

OBJECTIVE: Scanty data are available about neonatal systemic vascular resistances (SVR). We aim to provide reference values and nomograms for neonatal SVR. DESIGN: Multicenter, cross-sectional,descriptive study performed in France and Italy. Neonates with complete hemodynamic stability were enrolled. Non-invasive measurements of SVR by electrical cardiometry performed once, after the first 72 h and before the 7th day of postnatal age. RESULTS: We studied 1094 neonates: SVR was correlated with gestational age (ρ = -0.55, adj-r = -0.46, p < 0.001) and birth weight (ρ = -0.59, adj-r = -0.45, p < 0.001) irrespective of newborn sex. The relationships between SVR, gestational age and birth weight were represented by power equations and SVR was decreasing with increasing age and weight. Age- and weight-based SVR nomograms had optimal goodness-of-fit (non-linear R2 ≥0.74). Similar results were obtained for body surface indexed-SVR. CONCLUSIONS: In hemodynamically stable neonates, SVR decrease with increasing gestational age and birth weight. Specific gestational age and birth weight-based nomograms are provided for the clinical interpretation.

10.
Biomolecules ; 14(4)2024 Apr 03.
Artículo en Inglés | MEDLINE | ID: mdl-38672452

RESUMEN

Vaccination against SARS-CoV-2 has been demonstrated to be safe during gestation. Nevertheless, there are no robust data investigating the entity of maternal antibodies' transmission through the placenta to the newborn and the persistence of the antibodies in babies' serum. The objective of this study is to assess the maternal antibody transmission and kinetics among newborns in the first months of life. Women having received one or two doses of anti-SARS-CoV-2 mRNA-vaccines during pregnancy at any gestational age, and their newborns, were recruited and followed-up over 9 months. Ninety-eight women and 103 babies were included. At birth, we observed a significant positive correlation between maternal and neonatal serum anti-SARS-CoV-2 antibody levels and a significant negative correlation between the time since last dose and antibody levels in mothers with two doses. Over the follow-up, the birth antibody level significantly decreased in time according to the received doses number at 3, 6, and 9 months. During the follow-up, we registered 34 dyad SARS-CoV-2 infection cases. The decreasing trend was slower in the SARS-CoV-2 infection group and among breastfed non-infected babies. Antibodies from maternal anti-SARS-CoV-2 vaccination are efficiently transferred via the placenta and potentially even through breast milk. Among newborns, antibodies show relevant durability in the first months of life.


Asunto(s)
Anticuerpos Antivirales , Vacunas contra la COVID-19 , COVID-19 , SARS-CoV-2 , Humanos , Femenino , Embarazo , COVID-19/inmunología , COVID-19/prevención & control , Recién Nacido , Vacunas contra la COVID-19/inmunología , Vacunas contra la COVID-19/administración & dosificación , Adulto , SARS-CoV-2/inmunología , Anticuerpos Antivirales/inmunología , Anticuerpos Antivirales/sangre , Vacunación , Complicaciones Infecciosas del Embarazo/inmunología , Complicaciones Infecciosas del Embarazo/virología , Lactante
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