Two Cases of Congenital Hypothyroidism Revealing Thyroid Agenesis.

Congenital hypothyroidism (CH) may have major detrimental effects on growth and neurological development, but early intervention leads to excellent outcomes. CH is classified as transient or permanent, primary or secondary, with primary CH being the most common neonatal endocrine disorder. Most patients with CH do not present any typical signs and symptoms of hypothyroidism shortly after birth, partly due to transplacental maternal thyroid hormone transfer and residual neonatal thyroid function. This paper reports on two CH cases. During the initial Neonatal Intensive Care Unit (NICU) admission phase, CH was not suspected due to nonspecific signs. The distinct characteristics of our cases are as follows: both infants were admitted to the NICU for respiratory distress syndrome, requiring invasive mechanical ventilation, and both were born to diabetic mothers. Following extubation, they both showed similar neurological issues, including reduced muscle tone and feeding difficulties. Initially, those symptoms were attributed to delayed clearance of analgesic and sedative medication. However, symptoms progressively worsened over time. Subsequent tests revealed both meeting CH diagnostic criteria: an unusual ultrasound indicating thyroid agenesis and abnormal hormone levels. Guided by the pediatric endocrinology team, prompt hormonal treatment was started with improvements in neurocognitive function and feeding. Usually, CH screening involves blood samples from healthy newborns at 2-3 days of life. Abnormal results require confirmation, prompting treatment within two weeks. Certain NICU-admitted infants face higher diagnosis delays, as seen in those two cases where CH screening was postponed. Thus, for all neonates with persistent pathologies unresponsive to standard etiological treatment, conducting a comprehensive anamnestic evaluation of the medical history, along with maternal preconceptional and prenatal nutrition, is recommended.

Dyslipidemia in Pediatric Patients: A Cross-Sectional Study.

There is an increasing interest in dyslipidemia in adult patients since it is known to contribute to early cardiovascular disease. Often, dyslipidemia starts in childhood, and it is associated with aggravating lifestyle choices concerning eating habits, such as the tendency to consume processed food and fast food, as well as the tendency to be more and more sedentary. We conducted a retrospective cross-sectional study describing the prevalence of dyslipidemia in a single medical center in Romania and the associated pathology. We evaluated all lipid profiles that were ordered in our clinic over nine years. We included 2413 patients that were evaluated in our clinic in the timeframe 2011-2020. Out of them, 18.23% had high values for LDL-cholesterol. More than a quarter (25.91%) were diagnosed with obesity. 11.37% of the patients with high LDL-cholesterol levels had various metabolic disorders including primary dyslipidemia. A small number of patients with hypercholesterolemia had thyroid disorders (4.10%). Patients with high LDL-cholesterol had various diagnoses ranging from metabolic to neurologic disorders, keeping in mind that there are multiple pathologies that can lead to dyslipidemia. Evaluating children for dyslipidemia is at hand for medical professionals. Screening for dyslipidemia in children would provide the opportunity to prevent rather than treat cardiovascular events.

Endocrine Disorders in a Newborn with Heterozygous Galactosemia, Down Syndrome and Complex Cardiac Malformation: Case Report.

Down syndrome is the most common chromosomal abnormality diagnosed in newborn babies. Infants with Down syndrome have characteristic dysmorphic features and can have neuropsychiatric disorders, cardiovascular diseases, gastrointestinal abnormalities, eye problems, hearing loss, endocrine and hematologic disorders, and many other health issues. We present the case of a newborn with Down syndrome. The infant was a female, born at term through c-section. She was diagnosed before birth with a complex congenital malformation. In the first few days of life, the newborn was stable. In her 10th day of life, she started to show respiratory distress, persistent respiratory acidosis, and persistent severe hyponatremia, and required intubation and mechanical ventilation. Due to her rapid deterioration our team decided to do a screening for metabolic disorders. The screening was positive for heterozygous Duarte variant galactosemia. Further testing on possible metabolic and endocrinologic issues that can be associated with Down syndrome was performed, leading to hypoaldosteronism and hypothyroidism diagnoses. The case was challenging for our team because the infant also had multiple metabolic and hormonal deficiencies. Newborns with Down syndrome often require a multidisciplinary team, as besides congenital cardiac malformations they can have metabolic and hormonal deficiencies that can negatively impact their short- and long-term prognosis.

Respiratory pathology in late preterm infants conceived by in vitro fertilization.

This study aimed to identify the incidence of in vitro fertilization (IVF) in late preterm infants and the presence of respiratory pathology in this premature category compared with those conceived naturally. This retrospective study was performed over 6 months, including newborns with a gestational age between 34-36 weeks and 6 days in the Department of Obstetrics, Gynecology and Neonatology, Alessandrescu-Rusescu National Institute of Mother and Child Health. The following variables were assessed: infants' gestational age, delivery mode, respiratory morbidity, and the need for respiratory support. During the mentioned period, 112 late preterm infants were born, out of whom 9.8% represented late preterm infants conceived by in vitro fertilization. The delivery mode of late preterm infants conceived by in vitro fertilization was exclusively by C-section (100%) compared to those conceived spontaneously (44.5%). 18.1% of IVF late preterm infants developed transient tachypnea of the newborn. In the non-IVF group, respiratory distress syndrome was present in 5.9% and transient tachypnea in 33.6% of cases. No IVF late preterm infant required hospitalization in neonatal intensive care for more than 3 days, compared to 19.8% of naturally conceived late preterm infants. Respiratory distress syndrome very seldom occurs in late preterm IVF infants due to prenatal prophylactic treatment with corticosteroids. Respiratory pathology is rarely present due to very careful monitoring during pregnancy, the presence of a neonatal team in the delivery room for possible resuscitation, and providing proper care according to the good state of health during the short, one-week hospitalization.

Umbilical cord lactate compared with pH as predictors of intrapartum asphyxia.

Despite advances in fetal monitoring during labor, one of the most critical causes of neonatal death and neurologic injuries remains intrapartum asphyxia. Umbilical cord gases can be used to detect acidosis and fetal distress. We conducted a retrospective, multicenter study to evaluate umbilical cord blood pH and lactate as a mean of evaluating the degree of intrapartum hypoxia and also to establish which of the two is more reliable in predicting morbidity in term neonates. The present study utilized a total of 124 cases that met the criteria for intrapartum asphyxia and 150 normal term newborns that were randomly selected as case control. Both umbilical cord lactate and pH proved to be accurate predictors of neonatal morbidity caused by intrapartum hypoxia. Lactate proved to be superior to pH in predicting adverse neonatal outcome. The greatest sensibility and specificity in predicting intrapartum asphyxia were achieved in our study by using a cutoff value of 3.75 mmol/l for lactate and 7.24 for pH.

Significant Clinical Associations Between Exposure Type Factors and Recurrent Wheezing and Asthma in Children.

The study aimed to identify certain factors related to family history, pathological conditions, or exposure-type that are significantly correlated with recurrent wheezing and/or asthma in children. One hundred nine children with recurrent wheezing and 44 children with asthma were studied in order to identify the degree of correlation of these conditions with familial history of asthma or atopy, child's age group, gender, premature birth, perinatal asphyxia, neonatal infection, and antibiotic treatment during the neonatal period, history of atopy and obesity and histamine intolerance, nasopharyngeal bacterial colonization, pneumonia with bronchospasm. The clinical picture of these two diseases was also compared regarding the severity of exacerbations and their response to controller therapy. The medium age of children diagnosed with recurrent wheezing was significantly lower than those diagnosed with asthma (5.64 vs. 9.01 years; p<0.001). Inside the recurrent wheezing group, age distribution differed significantly from the asthma group (p-value <0.001). Atopy was the only pathological condition significantly associated with asthma (56.0%) when compared with the recurrent wheezing group (30.2%) with a relative risk value of 1.34 (p<0.004). For patients colonized with Staphylococcus aureus, the medium number of wheezing exacerbations was significantly higher (p<0.049). Approximately 91% of patients in the recurrent wheezing group and 71% from the asthma group responded to appropriate controller treatment. Our study showed a significant association between asthma and atopy, justifying the need to monitor asthma risk in a child with wheezing and atopy. Nasal carriage of Staphylococcus aureus proved to be significantly associated with the recurrence of wheezing in children.

Respiratory Outcome of the Former Premature Infants.

The research aims to identify the respiratory pathology during the first two years of life in premature infants with gestational ages between 30-34 weeks and the risk factors for these conditions (familial, prenatal, and neonatal). There were investigated 31 premature infants with gestational ages between 30-34 weeks and the incidence of bronchopulmonary dysplasia, infections with the respiratory syncytial virus, or other viral infections requiring hospitalization, recurrent wheezing, and nasal colonization with pathogenic bacteria were noted. Also, regression models for each type of respiratory pathology as a function of the antenatal (smoking in the family, atopy, mother's age) and neonatal (gestational age, respiratory distress syndrome, duration of the treatment with antibiotics, use of the reserve antibiotics) factors were elaborated. Respiratory distress syndrome was present in 20 premature infants, and 19 infants received respiratory support. Two former premature infants presented with bronchopulmonary dysplasia, 3 with severe respiratory syncytial virus infections, 7 with recurrent wheezing, and 16 with viral infections requiring hospitalization. Respiratory distress syndrome and severe viral infections were more frequently found in families of smokers. Low gestational age and familial atopy were identified as good predictors of severe respiratory syncytial virus infections (p< 0.03) Premature infants with gestational ages between 30-34 weeks present with the risk of appearance of respiratory diseases during the first two years of life, especially disorders of the airways. Familial atopy and low gestational age represent independent risk factors for severe respiratory syncytial virus infections.

Skeletal Muscle Damage in Intrauterine Growth Restriction.

Intrauterine growth restriction (IUGR) represents a rate of fetal growth that is less than average for the population and the growth potential of a specific infant. IUGR produces infants who are small for gestational age (SGA) but also appropriate for gestational age (AGA). It refers to growth less than expected for gestational age and is most often under 10th percentiles for age. It develops during the late second and third trimesters of gestation. The etiology of IUGR is multifactorial. One of the most important factors which leads to IUGR is a decrease of nutrients and oxygen delivered to the fetus by the placenta. The growth of adipose tissue and skeletal muscle is limited by the declined fetal nutrient supply later in gestation. IUGR affects about 24% of babies born in developing countries. Worldwide, IUGR is the second cause of perinatal morbidity and mortality behind the premature birth and a major predisposing factor to metabolic disorders throughout postnatal life, even at adult age. Skeletal muscle represents about 35-40% of the body mass and plays an essential role in metabolic homeostasis, being responsible for 65% of fetal glucose consumption. A reduction in skeletal muscle growth characterizes IUGR fetuses compared to normal weight neonates. The decrease in muscle mass is not compensated after birth and persists until adulthood. This is a review of the literature, a neonatological, clinical point of view on the effects of IUGR on striated muscles. The available studies on this subject are currently the results of experimental research on animals, and information about the human fetus and newborn are scarce.

Intubation-Surfactant: Extubation on Continuous Positive Pressure Ventilation. Who are the Best Candidates?

INTRODUCTION: Respiratory distress syndrome (RDS) continues to be the leading cause of illness and death in preterm infants. Studies indicate that INSURE strategy (INtubate-SURfactant administration and Extubate to nasal continuous positive airway pressure [nCPAP]) is better than mechanical ventilation (MV) with rescue surfactant, for the management of respiratory distress syndrome (RDS) in very low birth weight (VLBW) neonates, as it has a synergistic effect on alveolar stability. AIM OF THE STUDY: To identify the factors associated with INSURE strategy failure in preterm infants with gestational age (GA) ≤ 32 weeks. MATERIALS AND METHODS: This was a retrospective cohort study, based on data collected in the Romanian National Registry for RDS patients by three regional (level III) centers between 01.01.2010 and 31.12.2011. All preterm infants of ≤ 32 weeks GA were included. Prenatal and neonatal information were compared between (Group 1), the preterm infants successfully treated using INtubation-SURfactant-Extubation on nasal CPAP (INSURE) strategy and (Group 2 ), those who needed mechanical ventilation within seventy two hours after INSURE. RESULTS: A total of 637 preterm infants with GA ≤ 32 weeks were included in the study. INSURE strategy was performed in fifty seven cases (8.9%) [ Group 1] and was successful in thirty one patients (54.4%). No differences were found as regards the studied prenatal and intranatal characteristics between (Group 1) and Group 2 who needed mechanical ventilation. Group 2 preterm infants who needed mechanical ventilation within 72 hours after INSURE had significantly lower mean Apgar scores at 1 and 5 minutes and lower peripheral oxygen saturation (SpO2) during resuscitation at birth (p<0.05). Successful INSURE strategy was associated with greater GA, birth weight (BW), fraction of inspired oxygen (FiO2) during resuscitation, and an increased mean dose of surfactant but these associations were not statistically significant (p>0.5). CONCLUSION: In preterm infants ≤ 32 weeks gestation, increased INSURE failure rates are associated with complicated pregnancies, significantly lower Apgar scores at 1 and 5 minutes, and lower peripheral oxygen saturation during resuscitation.