A Sporadic Case of COL1A1 Osteogenesis Imperfecta: From Prenatal Diagnosis to Outcomes in Infancy-Case Report and Literature Review.

Osteogenesis imperfecta (OI), also known as brittle bone disease, belongs to a rare heterogeneous group of inherited connective tissue disorders. In experienced prenatal centers, severe cases of OI can be suspected before birth from the first trimester prenatal ultrasound screening. In this article, we describe a case report of OI suspected at the 26th week of gestation and the patient's outcomes in infancy one year after birth, as well as compare our case to other prenatally or soon-after-birth suspected and/or diagnosed OI clinical case reports in the literature. This case was managed by a multidisciplinary team. In this clinical case, OI was first suspected when prenatal ultrasound revealed asymmetric intrauterine growth restriction and skeletal dysplasia features. The diagnosis was confirmed after birth using COL1A1 gene variant detection via exome sequencing; the COL1A1 gene variant causes OI types I-IV. The familial history was negative for both pregnancy-related risk factors and genetic diseases. At one year old, the patient's condition remains severe with bisphosphonate therapy.

Ultrasonic cardiac output monitor provides effective non-invasive bedside measurements of neonatal cardiac output.

This study determined the accuracy and validity for the haemodynamic parameters of haemodynamically stable neonates after postnatal circulatory adaptation using the ultrasonic cardiac output monitor (USCOM) in comparison with echocardiography. We conducted a prospective, observational study of neonates born at 23-41 weeks of gestation. They all underwent both echocardiography and USCOM assessments for comparison purposes. The 127 neonates were examined at the median of postmenstrual age of 35 weeks and there was a very high correlation between the cardiac output measurements provided by both methods. The mean difference in cardiac output was - 12 ± 25 ml/kg/min, with percentage error of 8.3 ± 6.9%. A larger bias was observed in cases with higher left ventricular output. Bland-Altman analysis confirmed no significant bias, with acceptable limits of agreement between these two methods. There was a very good correlation between the USCOM and echocardiographic methods when we used them to measure cardiac output in neonates.

Brain and renal oxygenation measured by NIRS related to patent ductus arteriosus in preterm infants: a prospective observational study.

BACKGROUND: Patent ductus arteriosus (PDA) is common among preterm neonates. Haemodynamically significant ductus arteriosus (hsPDA) can cause ductal steal and contribute to poor outcomes. Our aim was to evaluate ductus arteriosus patency and significance using two-site near-infrared spectroscopy (NIRS) measurements in preterm infants older than 72 h as a supplemental tool to echocardiography. METHODS: In this prospective observational study, 123 preterm infants (gestational age (GA) < 32 weeks, birth weight < 1500 g) were enrolled. Sixty-four newborns had closed ductus arteriosus (noPDA), and 41 and 18 patients were assigned to the PDA and hsPDA groups, respectively, per predefined echocardiographic criteria. Cerebral and renal oxygenation were assessed during NIRS monitoring. RESULTS: A higher renal mean (±SD) regional tissue oxygen saturation (rSpO2) (76.7 (±7.64)) was detected in the noPDA group than in the PDA (71.7 (±9.02)) and hsPDA (67.4 (±13.48)) groups (p < 0.001). Renal fractional tissue oxygen extraction (FTOE) (0.18 (±0.079)) was lower in the noPDA group than in the PDA (0.23 (±0.092)) and hsPDA (0.24 (±0.117))0.117 groups (p = 0.002). Cerebral oxygenation was significantly lower in the hsPDA group (77.0 (±5.16)) than in the noPDA (79.3 (±2.45)) and PDA (79.7 (±2.27)) groups (p = 0.004). There was no significant difference in cerebral fractional tissue oxygen extraction (FTOE) between any of the groups. CONCLUSIONS: Our results suggest that renal oxygenation is affected by ductus patency in preterm infants older than 72 h. Significant differences in cerebral oxygenation were observed between the hsPDA group and the PDA and noPDA groups. TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT04295395. Registration date: 4 March 2020. This study was retrospectively registered, https://clinicaltrials.gov/ct2/show/NCT04295395 .

Clinical and Social Characteristics of Deliberately Intoxicated Minors Treated in Pediatric Intensive Care.

BACKGROUND: The aim of the study was to determine and compare the clinical and social characteristics of minors using alcohol and drugs for inebriation, and the same for those using them for suicide. METHODS: This study includes an analysis of case histories of adolescents hospitalized in the Pediatric Intensive Care Unit because of acute alcohol or/and drug intoxication in 2015 to 2017. Two groups (group I: inebriation, and group II: suicide) were compared on age, sex, severity of intoxication, used substances, presence of other self-harm evidence, and social status. RESULTS: A total of 390 cases were registered: 78.21% in Group I and 21.79% in Group II. The Glasgow-Coma-Scale scores showed that patients from Group I were more severely intoxicated, with an average score of 11.47, whereas patients from Group II averaged 13.45 (P < .001). Self-harm was more prominent among minors from Group II, with an incidence of up to 65.09%. The most common substance used to become inebriated was alcohol (72.79%), and for committing suicide was medication (88.24%). Patients who were living in children's care homes composed 13.33% of all cases included into the study, despite the low frequency of these minors in Lithuania (0.8%). CONCLUSIONS: The substance used for deliberate intoxication was mostly alcohol. Minors experiencing inebriation were hospitalized in worse clinical condition in comparison to those who had attempted suicide. Other signs of self-harm were significantly more common among suicidal minors. Living in children's care homes is a possible risk factor for deliberate intoxication among young people in Lithuania.

Challenges in the diagnosis and management of isolated congenital complete atrioventricular block in premature newborns.

Diagnostic and treatment challenges of congenital complete atrioventricular block in two premature newborn babies are presented. Timely recognition of this fetal condition, appropriate antenatal care, and treatment at a tertiary level care hospital as well as prompt postnatal management of the newborn baby are the key factors for good outcome. Prematurity is also associated with an additional risk of poor outcome and complications.

A Rare Case Report of Thoracic Ectopia Cordis: An Obstetrician's Point of View in Multidisciplinary Approach.

Ectopia cordis is a rare congenital anomaly associated with the heart positioned outside of the thoracic cavity either partially or completely. It can be associated with other congenital abnormalities. Overall, the prognosis for infants with ectopia cordis is very poor but depends greatly on the type and severity of ectopia cordis and intracardiac and associated malformations. We present one case of a fetus with prenatally diagnosed thoracic ectopia cordis with intracardiac defects and omphalocele, all the abnormalities seen in pentalogy of Cantrell except a diaphragmatic defect. Considering poor prognosis for fetus, conservative management of prenatal care has been chosen. At the 42nd gestational week, during the active stage of labor, due to fetal distress, cesarean section was performed at a tertiary level hospital. The condition of the infant was impairing rapidly and the newborn succumbed within 24 hours. We discuss the perinatal care concerning this rare anomaly.