Search

Sacrococcygeal teratomas complicate approximatively 1 in 27,000 pregnancies, being the most common congenital germ cell tumors in infants. The diagnosis is suspected using ultrasonographic examination and confirmed after a pathology report is performed. The main issue complicating fetuses with sacrococcygeal teratomas is represented by the rapid growth and the great need of blood supply captured by the tumor that interferes with the fetal growth and fetal wellbeing, generating heart failure and, unfortunately, increasing neonatal mortality. Thus, ultrasonographic monitoring is fundamental, to diagnose, closely monitor the growth and vascularization of the tumor and to ameliorate the neonatal prognosis by establishing the proper time of birth. There are specialized healthcare centers that could perform in utero surgery with the aim to aid the normal growth and development of the fetus until term, when a curative surgery is performed to the newborn. In cases complicated with heart failure leading to fetal hydrops, pregnancy termination could be a valuable option for the mothers, as soon as the etiology and the stage of heart decompensation are known. We present a case of a fetal sacrococcygeal teratoma in a 36-year-old pregnant woman, an uninvestigated pregnancy that had a dreadful outcome with neonatal death.

Goldenhar syndrome, also known as oculo-auriculo-vertebral syndrome, represents a rare congenital complex of anomalies, involving the development of the first and second brachial arches during the first embrionary stage. In addition to the craniofacial disorders, Goldenhar syndrome can include central nervous system, heart, skeleton or kidneys pathologies as well as vertebral defects. We present the case of a Goldenhar syndrome whose first pathologic sign was tetralogy of Fallot, with associated cardiovascular disorders (atrial septal defect type ostium secundum, and single umbilical artery) and bilateral microtia, with malformation of auditory canal, mandibular hypoplasia and a single epibulbar dermoid. The Goldenhar syndrome was diagnosed after birth, the article emphasizing the difficulties of prenatal diagnosis.

Background. Alkaline phosphatase is an enzyme that catalyzes the hydrolysis of esters in an alkaline environment. Four isoenzymes have been identified in the human body: placental alkaline phosphatase (PLALP isoenzyme), intestinal alkaline phosphatase (IAP), hepatic/bone/renal alkaline phosphatase (L/B/K ALP) and germ cell alkaline phosphatase (GCALP). The uses of ALP in neonatology have been intensively studied, and associations have been demonstrated between elevated alkaline phosphatase levels and hypocalcemia and hypophosphatemia in premature infants, the onset of early osteopenia and the occurrence of necrotizing enterocolitis. Objective. The current study aimed to demonstrate the correlation between elevated alkaline phosphatase levels in blood from the umbilical cord and elevated transcutaneous bilirubin levels that indicated phototherapy. Material and methods. The study included 250 term newborns within 01-06.2018 and 31 had indication for phototherapy, and 219 without indication for phototherapy, in a tertiary maternity hospital in Bucharest, Romania. Alkaline phosphatase was determined in the umbilical cord serum. Results. The values of the alkaline phosphatase were from 145 to 417 U/l for the newborns without phototherapy and the treated group was beetween 320 and 602 U/l. The values of the alkaline phosphatase were not influenced by the birth weight, Apgar score, and gender. Conclusions. Alkaline phosphatase may represent a predictive marker for the need for phototherapy in term neonates, but further extended studies are required on larger groups of patients.

Introduction. Since the second half of the eighteenth century, neonatal jaundice has been a widely debated topic and the first records on neonatal jaundice were made in antiquity. Although it is a common pathology, in some cases it can be severe, leading to bilirubin encephalopathy. In recent years, many studies have tried to correlate and to identify predictive factors for the occurrence of severe hyperbilirubinemia. The most recent associations have been made with the level of alkaline phosphatase because it is a ubiquitous enzyme with an important role in hepatic metabolism. Material and method. A study on a group of 250 full-term, normal-weight newborns without associated pathologies was performed. The aim of the study was to determine the alkaline phosphatase values at birth, transcutaneous bilirubin values at 24 and 48 hours after delivery and the need of phototherapy as treatment. Results and conclusions. A high statistical correlation was demonstrated between elevated alkaline phosphatase values, measured in the umbilical cord blood and neonatal jaundice. A cutoff value for alkaline phosphatase correlated with the need for phototherapy was also determined.

Introducere. Icterul neonatal reprezintă un subiect amplu dezbătut de către cercetători încă din a doua jumătate a secolului XVIII, iar primele consemnări ale icterului la nou-născut au fost făcute în Antichitate. Deşi este o patologie frecventă, în unele cazuri poate fi severă, mergând până la encefalopatie hiperbilirubinemică. Studiile din ultimii ani au încercat realizarea de corelaţii şi identificarea de factori predictivi pentru apariţia hiperbilirubinemiei severe. Cele mai recente asocieri au fost făcute cu dozarea fosfatazei alcaline, deoarece este o enzimă ubicuitară cu rol important în metabolismul hepatic. Material şi metodă. S-a realizat un studiu pe un lot de 250 de nou-născuţi normoponderali la termen, fără patologii asociate, la care s-au urmărit valorile fosfatazei alcaline la momentul naşterii, valorile bilirubinei transcutanate la 24 şi 48 de ore şi necesitatea utilizării fototerapiei ca tratament. Rezultate şi concluzii. S-a demonstrat o înaltă corelaţie statistică între valorile crescute ale fosfatazei alcaline recoltate din sângele din cordonul ombilical şi apariţia icterului neonatal. De asemenea, a fost determinată o valoare cutoff pentru fosfatază alcalină de la care s-a observat corelarea statistică cu nevoia de fototerapie.

Listeria monocytogenes este un bacil gram pozitiv, cu o incidență scăzută a infecțiilor diagnosticate, care determină listerioză maternă, fetală și neonatală prin transmitere verticală de la mamă. La adulți, infecția este una ușoară, cu simptome gastrointestinale sau asemănătoare gripei, uneori poate fi chiar asimptomatică. Ȋn schimb, la nou-născuți determină apariția sepsisului neonatal precoce sau tardiv, endocardită, complicații neurologice. Neurolisterioza este cea mai gravă formă de afectare neonatală, cu o rată crescută a mortalității perinatale. Vă prezentăm un caz de sepsis neonatal precoce cu Listeria monocytogenes la un nou-născut la termen provenit dintr-o sarcină gemelară (monocorială-diamniotică), care asociază hipoxie severă la naștere.

Twin pregnancies have an increased incidence in recent years, especially due to the development of assisted human reproduction techniques. Although most of the in vitro fertilization pregnancies are dichorionic tasks, exceptions may also occur following the placental fusion process. Twin pregnancies in which the fusion process occurs associate the complications of monochorial pregnancies such as prematurity, growth discordance between the twins, twin-to-twin transfusion syndrome, twin reversed arterial perfusion, with higher perinatal mortality and morbidity. In recent years, most studies have focused on correlations between the macro and microscopic aspects of the placenta and the associated complications.

Listeria monocytogenes is a gram-positive bacillus with a low incidence of diagnosed infections that can cause maternal, fetal and neonatal listeriosis by vertical transmission from the mother. In adults, the infection is mild with gastrointestinal or flu-like symptoms, sometimes it may even be asymptomatic. In contrast, in newborns it can cause early or late neonatal sepsis, endocarditis, meningitis, neurological complications. Neurolisteriosis is the most serious form of neonatal disease with an increased rate of perinatal mortality. We present a case of a term newborn with early neonatal sepsis with Listeria monocytogenes that associated severe perinatal asphyxia.

A neonatal stroke is a cerebrovascular process caused by interruption of cerebral blood flow that occurs with an incidence between 1 per 1600 and 1 per 2660 live births. Relative higher incidence in the neonatal period compared to later childhood is favored by the hypercoagulability state of the mother, mechanical stress during delivery, transient right to left intracardiac shunt, high hematocrit, blood viscosity, and risk of dehydration during the first few days of life. The exact cause of a neonatal stroke remains unclear in many cases. About 80% of neonatal strokes are due to arterial ischemic events involving the middle cerebral artery. Typical clinical manifestations in a neonatal stroke are usually seizures that appear immediately after birth or after several days of life, but many of the cases may remain asymptomatic. We present the case of a late preterm infant diagnosed with a thalamic stroke on the fifth day of life with no clinical signs except for repeated episodes of apnea. The anamnesis and clinical context, in this case, revealed a SARS-CoV-2 infection in late pregnancy and early bacterial neonatal sepsis. Early identification of a perinatal stroke and increasing awareness of physicians about this condition in the neonatal period have paramount importance to reduce developmental postischemic damage.

Starting from the end of the XIXth century, a decrease in infant mortality was observed worldwide. Care of preterm infants became the domain of dedicated units inside hospitals and technology became more complex. Neonatal Intensive Care Units were created throughout the world, increasing infant survival chances regardless of age and pathology. Alongside Neonatology, better means of investigating the pregnancies were discovered. Ultrasound use during pregnancy improved the chances of identifying complex genetic syndromes, some incompatible with survival after birth. It is considered that Stéphane Tarnier (1828–1897) is the architect of Perinatology, many of his inventions had a major role in the evolution of Obstetrics and Neonatology (the Tarnier forceps, the basiotribe, intrauterine balloon for inducing the labor, gavage feeding of the preemies). But only in 1967 the term “perinatology” was mentioned for the first time in a german paper. Professor Emeritus Erich Saling is the father or perinatology. He introduced the evaluation of gas exchange for the fetus during labor and the examination of amniotic fluid during the last weeks of pregnancy. Today, Perinatology is a widely used concept, but the road to creating this concept was long and needed the work of many prominent doctors.

We describe the case of a newborn with the antenatal onset of hepatic failure, which has been investigated for all etiologies that can cause liver damage: infectious, metabolic, genetic, and immune. The lack of a clear answer regarding the etiology and the response to immunoglobulin therapy led us to the diagnosis of gestational alloimmune liver disease. Gestational alloimunne liver disease is an uncommon and very severe cause of neonatal acute liver failure (NALF). Initially, the therapeutic approach aimed at correcting the effects produced by iron loading, respectively, iron chelators and antioxidants. Since all aspects of this case indicated characteristic features typical for GALD, therapy with intravenous immunoglobulins (IVIG) was introduced. If such therapy alters the prognosis of newborns with GALD, the etiology and pathophysiology remain uncertain. However, in cases regarding severe hepatic failure with the perinatal onset and apparently unknown etiology, immunoglobulin or exchange transfusion therapy should be taken into account even before finalizing all the etiological investigations. The prognosis is uncertain and varies between clinical resolution, chronic hepatitis/cirrhosis, and the need for a hepatic transplant, and overall survival depends on prompt therapeutic intervention.

Objectives. The present study is trying to ascertain if EPO can be administered ”early” (before 8 days of life) top revent or reduce the need for blood transfusions. As secondary objectives we aim to observe efficiency and safety when using early EPO with regards to reducing specific ELBW comorbidities. Methodology. Prospective, randomized clinical study, that included 109 preterm babies with GA 30 wk, and BW 1,250 g, born in our unit between January 2018 and June 2019. The treatment we used was early EPO within the first seven days of life, concomitant an oral iron supplement . According erythropoietin therapy, preterms were randomized in EPO group ( n – 40) and control group (n – 69). Results. During hospitalization, there were 51 blood transfusions in the two groups: 13 in the EPO group and 38 in the control group. As for blood transfusions mean, it was 1.1±0.7 for the EPO group (1-3) versus 1.5±1.2 (1-6) for the control group, p 0.25. There were statistically significant differences between the blood transfusions mean volume in the two groups 35.4±19.3 ml for the EPO group versus 53.5±23.8 ml for the control group, p 0.045. There were no significant differences in IVH incidence (> gr. 3) between the two groups. Fisher’s exact test showed that there was no influence of EPO on brain hemorrhage (X2 = 0.86, p = 0.38), intestinal tract (X2 = 2.89, p = 1.23), lung tissue (X2 = 0.7, p = 1), or the incidence of retinopathy of prematurity (X2 = 0.42, p = 0.59). Conclusions. In our study, the early initiation of erythropoietin (EPO) at less than eight days, reduced the need for transfusions by 0.5 transfusions/patient. The total volume (ml/kg/patient) of transfused blood was reduced by 18 ml. Although the results from the recent meta-analyzes showed a moderate quality of evidence that EPO reduces intraventricular hemorrhage (IVH), periventricular leukomalacia (PVL) and NEC, the results of our study did not prove this.

Obiective. Studiul actual încearcă să răspundă la întrebarea dacă eritropoietina poate fi administrată „precoce“ (înainte ca prematurul să ajungă la opt zile de vârstă postnatală), în scopul de a preveni sau a reduce nevoia de transfuzii. Obiectivele secundare sunt observarea eficienţei şi siguranţei administrării precoce a eritropoietinei în reducerea comorbidităţilor specifice acestei vârste de gestaţie. Material şi metodă. Studiu clinic randomizat, prospectiv ce a inclus 109 prematuri cu vârsta de gestaţie ≤ 30 săptămâni şi greutate ≤ 1.250 grame născuţi în intervalul ianuarie 2018-iunie 2019. Intervenţia terapeutică a constat în administrarea „precoce“ a eritropoietinei în primele 7 zile de viaţă, concomitent cu un preparat oral de fier. În funcţie de administrarea de eritropoietină (EPO) prematurii din studiu au fost împărţiţi în grupul EPO (n – 40) şi un grup de control (n – 69) care nu a primit decât preparatul oral de fier. Rezultate. Se observă o scădere mai abruptă a hemoglobinei şi hematocritului la grupul de control începând cu săptămâna a 4-a (~28 zile) până la 7 săptămâni, valorile ajungând să fie sensibil egale la externare. În ceea ce priveşte media numărului de transfuzii, aceasta a fost de 1,1±0,7 la grupul EPO versus 1,5±1,2 la grupul de control, p = 0,25. Au existat diferenţe semnificative statistic între mediana volumului de sânge transfuzat între cele două grupuri: 35,4±19,3 ml la grupul EPO versus 53,5±23,8 ml la grupul de control, p = 0,045. Nu a existat o influenţă a administrării EPO asupra apariţiei hemoragiilor cerebrale (X2 = 0,86, p = 0,38), asupra mucoasei intestinale (X2 = 2,89, p = 1,23) sau a ţesutului pulmonar (X2 = 0,7, p = 1). Administrarea EPO nu a influenţat incidenţa retinopatiei de prematuritate (X2 = 0,42, p = 0,59). Concluzii. În studiul nostru, iniţierea precoce a eritropoietinei (EPO) la vârstă mai mică de opt zile a redus necesitatea transfuziilor cu 0,5 transfuzii/pacient. Volumul total (ml/ kg/pacient) de sânge transfuzat a fost redus cu 18 ml. Nu am putut dovedi efectele noneritropoietice ale EPO.

For more than 30 years, retinoids have been used for acne treatment also their teratogenic effects are widely known. For any woman at a fertility age and under retinoid treatment, a contraception programme should be in place. Pregnancy should be postponed until the completion of treatment and one month afterwards. Multiple foetal abnormalities are directly linked to isotretinoin.

(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.

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.

Obiective. În acest studiu, am investigat dacă măsurătorile NIRS înainte şi după transfuziile de concentrat eritrocitar pot răspunde la întrebarea: a reprezentat transfuzia un beneficiu? Pot fi utile măsurătorile derivate din NIRS în identificarea unor criterii mai obiective pentru ghidurile de transfuzie? Material şi metodă. Studiu prospectiv, observaţional ce s-a derulat în perioada iulie 2017 – martie 2018 într-un centru terţiar de terapie intensivă . A înrolat 44 de prematuri cu greutatea ≤1.250 g şi vârstă gestaţională ≤30 săptămâni, care au fost randomizaţi în funcţie de transfuzia de CE în grup transfuzat (n = 29) şi grup netransfuzat (n = 15). Prematurii care au necesitat transfuzie au fost monitorizaţi NIRS, pretransfuzional (monitorizare continuă 24 de ore), în timpul transfuziei, şi 24 de ore după transfuzie. Pacienţii netransfuzaţi au fost de asemenea monitorizaţi cu pulsoximetrie regională cerebrală la o vârstă postnatală şi în condiţii clinice asemănătoare grupului transfuzat. Rezultate. Valorile oximetriei cerebrale şi sistemice au avut valori comparabile la cele cele două grupuri atunci când s-au comparat rezultatele dinaintea transfuziei.Legat de efectul transfuzional se observă o creştere semnificativă a oxigenării tisulare cerebrale (CrSO2) chiar în timpul transfuziei, efect ce se menţine timp de 24 de ore: medie CrSO2 80±2, p value 0,019. De asemenea valorile fracţiei de extracţie a oxigenului tisular cerebral încep să scadă în timpul transfuziei, şi se menţin scăzute şi în următoarele 24 de ore 0,22±0,05 vs 0,15±0,02 – p value

Objectives. In this study we investigated if the cerebral oxygenation measurements before and after the packed red blood cell transfusions (PRBC) can answer the question: was transfusion beneficial? Can the measurements derived from NIRS (near infrared spectroscopy) be useful for the identification of more objective criteria for the transfusion guidelines? Patients and methods. This is a prospective observational study, performed in the period July 2017 – March 2018, in the 3th neonatal intensive care unit. It enrolled 44 preterm infants, with a weight ≤ 1250 g and gestational age ≤ 30 weeks, randomized by the PRBC transfusion in transfused group (n = 29) and non-transfused group (n = 15). The preterm infants that needed transfusion were NIRS monitored before (continuous monitoring 24 h), during and 24 h after the transfusion. The non-transfused patients were also monitored with cerebral regional pulse-oximetry at postnatal age, and under clinical conditions similar to the transfused group. Results. The values of the cerebral and systemic oximetry were comparable for the two groups when comparing the results before transfusion. Regarding the effects of transfusions, results showed a significant increase of cerebral tissue oxygenation (CrSO2) even during the 4 hours of transfusion, an effect maintained 24 hours following transfusion: postransfusional mean CrSO2 = 80±2, p value 0.019. Moreover, the values of the fractional cerebral tissue oxygen extraction begin to decrease during transfusion, and they remain low for the next 24 h as well 0.25±0.05 vs 0.15±0.02 – p value

Hemivertebra is a common cause of congenital scoliosis and results from a lack of formation of one-half of the vertebral body. This condition is very rare and can present as solitary or as a syndrome component: i.e., the split notochord syndrome, which often implies vertebral defects, from a bifid vertebra to hemivertebrae, or fused vertebrae. We describe a case of supernumerary lateral hemivertebra detected prenatally at 12 weeks of gestation and the ultrasonography specifics that lead to early and accurate diagnosis, monitoring during pregnancy, and follow-up at the 4-year period. The case is presented to specify the importance of an early assessment of fetal spine and diagnosis of various conditions, including hemivertebrae, considering the significant association with other anomalies (cardiovascular, urinary, skeletal, gastrointestinal, and central nervous systems), which are most commonly involved. Moreover, the need to counsel future parents on the risks implied by this anomaly is important for the obstetrician. We underline the inclusion of these types of congenital conditions in high-risk pregnancy because of the frequent association with high cesarean delivery rates, growth restriction, delivery before term, and higher morbidity rates.

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.

This article analyzes the various levels of violence and graphic detail in the initial Hitchcock murder scenes. Through a detailed close reading of these scenes from Blackmail, Strangers on a Train, and Frenzy, I expose the different and increasing levels of intensity at which sadism functions throughout Hitchcock’s career, and I suggest that the audience is stuck at a one-stage sadistic level as opposed to the typical Freudian model.

This article revisits the ending of Jean-Luc Godard’s Breathless (1960) in an attempt to untangle the complicated relationship between the two main characters, and to claim that they are characters that belong to no identifiable genre. Instead, they come to life as characters at the intersection point of existentialism, creationism, and two radically different genres, film noir and neorealism. In essence, they are characters without a genre, always out of place, and their existential drifting generates a Judas effect—a trope that establishes betrayal and sacrifice as necessary narrative tools and that suspends the classical (cinematic) Oedipal cycle.