Background: Spinal muscular atrophy (SMA) is a neuromuscular progressive disease, characterized by decreased amounts of survival motor neuron (SMN) protein, due to an autosomal recessive genetic defect. Despite recent research, there is still no cure. Nusinersen, an antisense oligonucleotide acting on the SMN2 gene, is intrathecally administered all life long, while onasemnogene abeparvovec-xioi, a gene therapy, is administered intravenously only once. Both therapies have proven efficacy, with best outcomes obtained when administered presymptomatically. In recent years, disease-modifying therapies such as nusinersen and onasemnogene abeparvovec-xioi have changed the natural history of SMA. Methods: We observed seven SMA type I patients, who received both therapies. We compared their motor function trajectories, ventilation hours and cough assist sessions to a control group of patients who received one therapy, in order to investigate whether combination therapy may be more effective than a single intervention alone. Results: Patients who received both therapies, compared to the monotherapy cohort, had the same motor function trajectory. Moreover, it was observed that the evolution of motor function was better in the 6 months following the first therapy than in the first 6 months after adding the second treatment. Conclusions: Our results suggest that early treatment is more important than combined therapy.

Umbilical cord abnormalities are not rare, and are often associated with structural or chromosomal abnormalities, fetal intrauterine growth restriction, and poor pregnancy outcomes; the latter can be a result of prematurity, placentation deficiency or, implicitly, an increased index of cesarean delivery due to the presence of fetal distress, higher admission to neonatal intensive care, and increased prenatal mortality rates. Even if the incidence of velamentous insertion, vasa praevia and umbilical knots is low, these pathologies increase the fetal morbidity and mortality prenatally and intrapartum. There is a vast heterogeneity among societies’ guidelines regarding the umbilical cord examination. We consider the mandatory introduction of placental cord insertion examination in the first and second trimester to practice guidelines for fetal ultrasound scans. Moreover, during the mid-trimester scan, we recommend a transvaginal ultrasound and color Doppler assessment of the internal cervical os for low-lying placentas, marginal or velamentous cord insertion, and the evaluation of umbilical cord entanglement between the insertion sites whenever it is incidentally found. Based on the pathological description and the neonatal outcome reported for each entity, we conclude our descriptive review by establishing a new, clinically relevant classification of these umbilical cord anomalies.

Objective. The aim of the study was to establish if lung ultrasound findings could anticipate the need for intubation and mechanical ventilation in neonates with respiratory distress and if lung ultrasound and aEEG criteria could be used in appreciation of the readiness for extubation of the neonatal patients resulting in a decrease of the rate of extubation failure. Material and method. There were analyzed the cases of 50 late preterm and early term neonates presenting with respiratory distress. Lung ultrasound was performed during the first 4 hours after delivery in all the neonates and then as clinically indicated in the case of ventilated patients. A lung ultrasound was performed in all the ventilated patients before extubation. 12 of the 25 ventilated patients were also monitored by aEEG. The decisions regarding the intubation and mechanical ventilation and the moment of extubation of the patients were taken by the clinicians in accordance with the local and international guidelines. The extubation failure was defined as the need to re-intubate the patient in the first 24 hours after the extubation. The lung ultrasound pattern was considered as normal if the image was consisting of A lines with rare B lines or ”double lung point” as in the case of the delayed absorption of fetal lung fluid and abnormal in the case of “white lung” appearance (coalescent B lines) or an image of consolidation. A normal aEEG was defined as the presence of a continuous normal voltage pattern with sleep-wake cycles present and an abnormal aEEG as either discontinuous normal voltage, burst-suppression, low voltage or flat background patterns. The lung ultrasound patterns in the first hours of life were compared between patients that needed intubation and those that did not need mechanical ventilation. The lung ultrasound and aEEG patterns before extubation were compared between the patients that did not need re-intubation and those with extubation failure. Results. An abnormal image on lung ultrasound was significantly associated with the risk of intubation (p < 0.001) (sensitivity 84%, specificity 100%, positive predictive value 100% and negative predictive value 86.2%) An abnormal lung ultrasound pattern before extubation was associated with a significant risk of extubation failure (p < 0.049) (sensitivity 75%, specificity 85%, positive predictive value 50%, negative predictive value 94.7%). In the case of the subset of patients in which aEEG was performed, an abnormal aEEG pattern was significantly associated with extubation failure (p < 0.034) (sensitivity 100%, specificity 88%, positive predictive value 75%, negative predictive value 100%). In the case of association of the two parameters (lung ultrasound and aEEG pattern) there was again a statistically significant association between the abnormal patterns and extubation failure. Conclusions. An abnormal lung ultrasound during the first hours of life is a strong predictor for the need of intubation and mechanical ventilation in the neonates with respiratory distress. The normal lung ultrasound pattern just before extubation is predictive of a good evolution without the need for re-intubation of the patient. A normal aEEG pattern at the same time is associated also with a decreased risk of extubation failure.

Introduction: Spinal muscular atrophy (SMA) is a progressive neurological disease with autosomal recessive transmission that affects motor neurons, causing their loss and resulting in muscle waste and motor deficiency. Nusinersen, the first SMN2 pre-mRNA targeted therapy approved by the Food and Drug Administration and the European Medicines Agency, has demonstrated high efficacy in improving motor function, as well as respiratory and nutritional statuses. Materials and Methods: We observed 55 patients (children/adolescents) diagnosed with spinal muscular atrophy (SMA), who received nusinersen therapy. To investigate the benefits of physical therapy on rehabilitation outcomes, we compared the motor evolution of patients who received nusinersen and performed daily physical therapy (study group) to those of the control group, who received only nusinersen therapy. Results: Motor skill improvements were statistically significantly (p < 0.001) higher in the study group, being almost four times better (12.66%), effect size, in comparison to the control group (3.18%). Conclusions: Physical therapy has provided superior results for those who receive it on a regular basis. These results include the correction of posture, reduction in stiffness, expansion of the range of motion and strengthening of muscles, thus allowing patients to do more movements and boosting their ability to perform everyday tasks.

(1) Background: Neonatal cerebral sinovenous thrombosis (CSVT) is a rare disorder, associated with long-term neurological sequelae. The aim of this study was to retrospectively evaluate the most commonly encountered perinatal risk factors for this disease in a cohort of newborns from Romania. (2) Methods: The medical records of neonatal CSVT patients treated between January 2017 and December 2021 were descriptively assessed. (3) Results: The study included nine neonates, five males (55.56%) and four females (44.44%), who were born at term. The most commonly presented clinical manifestations were feeding difficulties, lethargy, respiratory distress, loss of consciousness, and seizures. Maternal-inherited thrombophilia, male sex, complicated delivery, perinatal asphyxia, and mechanical ventilation were frequently identified as potential risk factors for developing CSVT. The lesions were more frequently localized in the superior sagittal sinus (n = 7; 77.78%), followed by the transverse (n = 4; 44.44%), sigmoid (n = 2; 22.22%), and cavernous (n = 1; 11.11%) sinuses. Low-molecular-weight heparin was administered to all patients, and two of them died from thrombotic complications. (4) Conclusions: Recognition of potential risk factors and a prompt diagnosis of neonatal CSVT could lead to better patient management and to a reduction of severe complications.