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 deficiency. Nusinersen, the first SMN2 pre-mRNA targeted therapy approved by Food Drug Administration European Medicines Agency, has demonstrated high efficacy improving function, as well respiratory nutritional statuses. Materials Methods: We observed 55 patients (children/adolescents) diagnosed...

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 still no cure. Nusinersen, antisense oligonucleotide acting on the SMN2 gene, intrathecally administered all life long, while onasemnogene abeparvovec-xioi, gene therapy, intravenously only once. Both therapies have proven efficacy, with best outcomes obtained when...

Umbilical cord abnormalities are not rare, and often associated with structural or chromosomal abnormalities, fetal intrauterine growth restriction, poor pregnancy outcomes; the latter can be a result of prematurity, placentation deficiency or, implicitly, an increased index cesarean delivery due to presence distress, higher admission neonatal intensive care, prenatal mortality rates. Even if incidence velamentous insertion, vasa praevia umbilical knots is low, these pathologies increase...

Immature sacrococcygeal teratoma represents a histological form with rapid tumor growth, risk of premature birth, an enhanced rate complications, increased recurrence, and higher mortality than the mature type. Thus, prenatal diagnosis immature forms would significantly improve prognosis these cases. To this end, we performed extensive literature review on diagnosis, therapeutic management, follow-up teratomas. Regarding medical conduct, also presented our case. In conclusion, early...

In 2022, Romania started an RSV immunoprophylaxis program with Palivizumab for infants at high risk: preterm born before 35 weeks of pregnancy, congenital heart defects, and chronic lung disease. We evaluated treatment adherence from August 2022 to March 2024. monitored the increase in number patients enrolled collaborating neonatologists, family doctors, pediatricians. Adherence all doses was assessed by telephone interviews. The factors contributing reduced were identified. Between 2024,...

Introduction: Neonatal sepsis is a severe and life-threatening condition caused by pathogens in the systemic circulation within first 28 days of life. The classical definition neonatal implies positive central cultures, but recent findings discuss culture-negative (clinical associated with laboratory findings). Since infected neonates initially express few non-specific clinical signs there are unreliable biochemical markers to identify early stages, it essential improve accuracy diagnosis...

Hydrocephalus in preterm and term newborns is a condition with an important impact on medical care the neurological development of patients, high expenditures regarding daily care. Imaging nowadays provides valuable information aetiology condition, it represents great aid monitoring patients. In this article, we present cases five patients hydrocephalus, for which different imaging methods were used to detect treat underlying aetiology, emphasizing cranial ultrasound examination. The results...

Background and aim: The early identification of the former premature neonates at risk neurologic sequelae could lead to intervention a better prognosis. This pilot study aimed investigate whether General Movement patterns observed term-equivalent age in infants serve as predictors for guiding improving Materials methods: In population 44 (mean gestational 33.59 weeks (+2.43 weeks)) examined age, 10 with cramped–synchronized Movements motor pattern were identified. These included an program...

Diabetes mellitus (DM) is a chronic non-transmittable disease and, alongside periodontal disease, another but with infectious and inflammatory etiology, that have increasing prevalence. The link between the two comorbidities bidirectional, common aspects such state, altered immune response healing process. This alimented, also, by oxidative stress, an element can initiate proinflammatory pathways in both pathologies. Moreover, favors development of DM complications multifactorial mechanism...

True umbilical knot (TUK), although not a commonly encountered pathology, hasan important psychological burden on the mother and obstetrician. It has an extremely low prenatal ultrasound diagnosis rate, despite its adverse perinatal outcomes when unknown. We conducted retrospective observational analytical study 7-year period (2015-2021), including all pregnancies overseen by single fetal-maternal medicine specialist for monitoring delivery. analyzed detection rate correlations between of...

Background and Objectives: Our quality management project aims to decrease by 20% the number of neonates with respiratory distress undergoing chest radiographs as part their diagnosis monitoring. Materials Methods: This was developed at Life Memorial Hospital, Bucharest, between 2021 2023. Overall, 125 patients were included in study. The consisted a training phase, then an implementation final results measured one year after end phase. imaging protocol performance lung ultrasounds all on...

(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 disease in cohort newborns from Romania. (2) Methods: medical records neonatal CSVT patients treated between January 2017 and December 2021 were descriptively assessed. (3) Results: included nine neonates, five males (55.56%) four females (44.44%), who...

A neonatal stroke is a cerebrovascular process caused by interruption of cerebral blood flow that occurs with an incidence between 1 per 1600 and 2660 live births. Relative higher in the period compared to later childhood favored hypercoagulability state mother, mechanical stress during delivery, transient right left intracardiac shunt, high hematocrit, viscosity, risk dehydration first few days life. The exact cause remains unclear many cases. About 80% strokes are due arterial ischemic...

Background and aim: Our research aims to find correlations between the brain imaging performed at term-corrected age atypical general movement (GM) patterns noticed during same visit a—cramped-synchronized (CS) or poor repertoire (PR)—in formerly premature neonates provide evidence for structures involved in modulation of GM that could be injured result appearance these further deficits. Materials methods: A total 44 preterm ((mean GA, 33.59 weeks (+2.43 weeks)) were examined follow-up...

Introduction: Birth Asphyxia is a severe condition that includes many potential pathways of occurrence both in utero and during childbirth. We aimed to identify describe specific macroscopic microscopic placental injuries birth asphyxia serve as quick tool stratify newborn’s further evolution, hypoxic-ischemic encephalopathy can be responsible for neonatal death or neurologic sequelae compromising the affected persons’ quality life. Materials methods: conducted an observational prospective...

It is documented that maternal diseases or treatments influence a newborn’s clinical status at birth; autoimmune with circulating antibodies are often clinically expressed transiently in newborns due to the crossover of specific IgG through placenta during pregnancy. The offspring can inherit genetic anomalies, but expression usually becomes patent later life. If prenatal medical history not available if signs symptoms mother’s disease revealed for first time pregnancy postpartum, their...

Background/Objectives: Our research aimed to assess if correlations could be found between items evaluated at the cerebral ultrasound performed term-equivalent age (TEA) and neuro-motor outcomes 12 24 months of corrected in a group preterm infants. Methods: The following were assessed: Levine Index, diagonals lateral ventricles, size ventricular midbody, sinocortical distance, width basal ganglia, cortical depth level cingular sulcus maturation gyral folding. neurologic evaluation was age,...

Hemivertebra is a common cause of congenital scoliosis and results from lack formation one-half the vertebral body. This condition very rare can present as solitary or syndrome component: i.e., split notochord syndrome, which often implies defects, bifid vertebra to hemivertebrae, fused vertebrae. We describe case supernumerary lateral hemivertebra detected prenatally at 12 weeks gestation ultrasonography specifics that lead early accurate diagnosis, monitoring during pregnancy, follow-up...

Neonatal metabolic screening has proven to be an important tool for the early detection of innate errors. Despite fact that simple and effective methods testing diseases have been identified since middle twentieth century, no consensus reached so far on content neonatal panels. There are large differences between countries in number through national programs, ranging from zero several tens, most common being phenylketonuria congenital hypothyroidism (including Romania). Given rare but...

Hysterosalpingo-foam sonography (HyFoSy) has gained popularity in the last decades, as it represents a feasible, well-tolerated, and minimally invasive method of evaluation tubal patency cases infertility. The purpose this study was to communicate technical tips tricks based on our experience performing HyFoSy, with aim improve feasibility, reduce pain, evaluate pregnancy-obtaining rate after procedure. Our observational includes 672 patients from infertile couples who underwent HyFoSy for...

Prelabor preterm rupture of the membranes (PPROM) refers to before 37 weeks, but also onset labor. Approximately 3% pregnancies are complicated by PPROM, which is an important cause neonatal morbidity and mortality. The aim study demonstrate benefit expectant management in compared immediate birth, defined our as birth first 48 h. We analyzed 562 with PPROM gestational age groups short-term morbidities. conducted a retrospective observational analytical study, included women between 24 + 0...

Posture, hyper-kyphosis or “the postural round back”, and balance are topics that have been extensively studied, although with some conflicting findings. Body position is representative of physical mental health. Bad posture can lead to spinal complications (affects the muscular system, deforms skeletal bone, causes abnormal development) same be said other way around. As standard living increases, there an increase in consumerism for technological devices, especially among teenagers....