A Rare Case of Oligodendroglioma in Sacrococcygeal Mature Teratoma Diagnosed in Preterm Infant

Sacrococcygeal teratoma is the most common congenital tumor in neonates, and is reported in approximately 1/35,000 to 1/40,000 live births. Oligodendroglioma is a rare central nervous system tumor that is usually found in the cerebral hemisphere of young and middle aged adults. When associated with a teratoma, it is mainly identified in ovarian teratoma in adolescents and adults. We describe a rare case of a preterm infant with oligodendroglioma in a mature sacrococcygeal teratoma. The male neonate was born at a gestational age of 30 weeks with a protruding mass in the sacrococcygeal region. Pelvic magnetic resonance imaging showed a sacrococcygeal teratoma of approximately 11 cm comprising fat components and skeletal structure, that extended from the anterior part of the sacrum to the abdominal cavity. Radical resection was performed at 36 days of age. Macroscopically, the resected intra-abdominal mass had the characteristics of a cystic lesion, and the intrapelvic mass was a predominantly solid mixed cystic-solid lesion. Histologically, this solid lesion in the intrapelvic mass was composed of mature glial tissue, which comprised as a proliferation of monotonous cells with small and round nuclei, surrounded by a perinuclear halo (“fried egg” appearance). Additionally, these cells were immunohistochemically positive for glial fibrillary acidic protein. These findings confirmed the diagnosis of oligodendroglioma in sacrococcygeal mature teratoma. After the treatment, no recurrence was observed during the follow-up period, and no additional intervention was required. However, the patient is undergoing treatment for voiding dysfunction caused by a neurogenic bladder.

Perinatal Prognostic Factors for Congenital Diaphragmatic Hernia: A Korean Single-Center Study

Purpose@#This study aimed to identify prognostic factors based on treatment outcomes for congenital diaphragmatic hernia (CDH) at a single-center and to identify factors that may improve these outcomes. @*Methods@#Thirty-five neonates diagnosed with CDH between January 2011 and December 2021 were retrospectively analyzed. Pre- and postnatal factors were correlated and analyzed with postnatal clinical outcomes to determine the prognostic factors. Highest oxygenation index (OI) within 24 hours of birth was also calculated. Treatment strategy and outcome analysis of published literatures were also performed. @*Results@#Overall survival rate of this cohort was 60%. Four patients were unable to undergo anesthesia and/or surgery. Three patients who commenced extracorporeal membrane oxygenation (ECMO) post-surgery were non-survivors. Compared to the survivor group, the non-survivor group had a significantly higher occurrence of pneumothorax on the first day, need for high-frequency ventilator and inhaled nitric oxide use, and high OI within the first 24 hours. The non-survivor group showed an early trend towards the surgery timing and a greater number of patch closures. Area under the receiver operating characteristic curve was 0.878 with a sensitivity of 76.2% and specificity of 92.9% at an OI cutoff value of 7.75. @*Conclusion@#OI within 24 hours is a valuable predictor of survival. It is expected that the application of ECMO based on OI monitoring may help improve the opportunity for surgical repair, as well as the prognosis of CDH patients.

Implementing the Golden Hour Protocol to Improve the Clinical Outcomes in Preterm Infants

Purpose@#Since premature infants are sensitive to the changes in blood glucose levels and body temperature, maintaining these parameters is important to avoid the risk of infections. The authors implemented the Golden Hour protocol (GHP) that aims to close the final incubator within one hour of birth by implementing early treatment steps for premature infants after birth, such as maintaining body temperature, securing airway, and rapidly administering glucose fluid and prophylactic antibiotics by securing breathing and rapid blood vessels. This study investigated the effect of GHP application on the short- and long-term clinical outcomes. @*Methods@#We retrospectively analyzed the medical records between 2017 and 2018 before GHP application and between 2019 and 2020 after GHP application in preterm infants aged 24 weeks or older and those aged less than 33 weeks who were admitted to the neonatal intensive care unit. @*Results@#Overall, 117 GHP patients and 81 patients without GHP were compared and analyzed. Peripheral vascularization time and prophylactic antibiotic administration time were shortened in the GHP-treated group (P=0.007 and P=0.008). In the short-term results, the GHP-treated group showed reduced hypothermia upon arrival at the neonatal intensive care unit (P=0.002), and the blood glucose level at 1 hour of hospitalization was higher (P=0.012). Furthermore, the incidence of neonatal necrotizing enteritis decreased (P=0.043). As a long-term result, the incidence of BPD was reduced (P=0.004). @*Conclusion@#We confirmed that applying GHP improved short- and long-term clinical outcomes in premature infants aged <33 weeks age of gestation, and we expect to improve the treatment quality by actively using it for postnatal treatment.

Neurodevelopmental Outcomes of Very-Low-Birth-Weight Infants without Severe Brain Lesions and Impact of Postnatal Steroid Use: A Single-Center Korean Study

Purpose@#We used the Bayley Scales of Infant and Toddler Development (BSID)-III to analyze the incidence and risk factors of developmental delay in very-low-birth-weight infants without severe brain lesions. We further examined the correlation between the cumulative dexamethasone dose and developmental assessment results. @*Methods@#We retrospectively analyzed data of preterm infants (birth weight <1,500 g) admitted to our neonatal intensive care unit between January 2014 to December 2020. The BSID-III scores obtained between the corrected ages of 12 and 24 months and after 24 months were analyzed. Developmental delay was defined as a composite score of <85 for the cognition, language, and motor domains. Univariate and multivariate analyses of developmental delay risk factors and developmental changes from the first to second BSID-III were performed. Correlations between the accumulated dexamethasone dose used for bronchopulmonary dysplasia (BPD) and the first and second test scores were analyzed. @*Results@#Seventy-one and thirty-six infants completed the first and second tests, respectively. In both tests, developmental delay was most commonly observed in the language domain (26.8%, 47.2%). In multivariate analysis, mild BPD was identified as a developmental delay risk factor (P<0.05), whereas prenatal steroid use reduced the developmental delay risk (P<0.05). All domain scores were lower in the second test than in the first test. The cognition and language domain scores in the second test decreased with increasing cumulative dexamethasone doses. @*Conclusion@#Very-low-birth-weight infants typically experience language delay, which can persist as they age.

Radiomics and Deep Learning in Brain Metastases: Current Trends and Roadmap to Future Applications

Advances in radiomics and deep learning (DL) hold great potential to be at the forefront of precision medicine for the treatment of patients with brain metastases.Radiomics and DL can aid clinical decision-making by enabling accurate diagnosis, facilitating the identification of molecular markers, providing accurate prognoses, and monitoring treatment response. In this review, we summarize the clinical background, unmet needs, and current state of research of radiomics and DL for the treatment of brain metastases. The promises, pitfalls, and future roadmap of radiomics and DL in brain metastases are addressed as well.

Congenital Syphilis in Neonate: A Single Center Study for 10 Years

Purpose@#Syphilis infections are becoming more prevalent in the Republic of Korea, and inadequately treated syphilis can lead to congenital syphilis (CS) in newborns. This study aimed to analyze the clinical manifestations of syphilis in mothers and newborns and to make suggestions to improve disease prognosis. @*Methods@#This single-center study was performed between August 2009 and August 2019 and included 29 newborns with CS. We retrospectively evaluated the clinical features, rapid plasma reagin (RPR) card test, fluorescent treponemal antibody absorption test (FTA-ABS), morbidity, and treatment regimen of all the syphilis-affected mothers and their newborns. @*Results@#At the time of delivery, mean maternal age was 29.0±6.1 years old, and newborn gestational age was 38.0 weeks. In cases when syphilis was confirmed during the second and third trimesters of pregnancy, the newborn with CS had morbidity (p=0.004). The mean RPR titer was related to morbidity (p= 0.036). Positive results of FTA-ABS IgM (p<0.001) and pleocytosis in the cerebrospinal fluid (CSF) (p= 0.020) also increase morbidity. The most common symptoms were desquamation and skin rash, followed by hepatomegaly, neurodevelopmental disability, and bone abnormalities. The highest number of CS cases per 1,000 live births in this hospital was in 2014. @*Conclusion@#CS is a preventable and treatable disease if physicians detect symptoms and provide appropriate treatment through RPR examinations during every trimester. General practitioners should be widely trained on various aspects including early detection, formal treatment, and regular follow-up. Additionally, medical services should be provided for the entire childbearing population regardless of the socioeconomic status.

Congenital Syphilis in Neonate: A Single Center Study for 10 Years

Purpose@#Syphilis infections are becoming more prevalent in the Republic of Korea, and inadequately treated syphilis can lead to congenital syphilis (CS) in newborns. This study aimed to analyze the clinical manifestations of syphilis in mothers and newborns and to make suggestions to improve disease prognosis. @*Methods@#This single-center study was performed between August 2009 and August 2019 and included 29 newborns with CS. We retrospectively evaluated the clinical features, rapid plasma reagin (RPR) card test, fluorescent treponemal antibody absorption test (FTA-ABS), morbidity, and treatment regimen of all the syphilis-affected mothers and their newborns. @*Results@#At the time of delivery, mean maternal age was 29.0±6.1 years old, and newborn gestational age was 38.0 weeks. In cases when syphilis was confirmed during the second and third trimesters of pregnancy, the newborn with CS had morbidity (p=0.004). The mean RPR titer was related to morbidity (p= 0.036). Positive results of FTA-ABS IgM (p<0.001) and pleocytosis in the cerebrospinal fluid (CSF) (p= 0.020) also increase morbidity. The most common symptoms were desquamation and skin rash, followed by hepatomegaly, neurodevelopmental disability, and bone abnormalities. The highest number of CS cases per 1,000 live births in this hospital was in 2014. @*Conclusion@#CS is a preventable and treatable disease if physicians detect symptoms and provide appropriate treatment through RPR examinations during every trimester. General practitioners should be widely trained on various aspects including early detection, formal treatment, and regular follow-up. Additionally, medical services should be provided for the entire childbearing population regardless of the socioeconomic status.

Comparison of Clinical Factors and Neurodevelopmental Outcomes between Early- and Late-Onset Periventricular Leukomalacia in Very Low Birth Weight Infants

PURPOSE: To analyze and compare the clinical factors and neurodevelopmental outcomes compare early- and late-onset periventricular leukomalacia (PVL) in very low birth weight infants (VLBWI). METHODS: We performed a retrospective study involving 199 newborn infants weighing < 1,500 g admitted to the neonatal intensive care unit between March 2009 and December 2015. VLBWI with PVL were categorized into early- and late-onset PVL groups based on the time of diagnosis based on 28 days of age. We analyzed the clinical factors and neurodevelopmental outcomes between the groups. RESULTS: The incidence rate of PVL was 10.1% (16/158). The Apgar score at 1 minute and the mean duration of tocolytic therapy were associated with the development of PVL. The incidence rate of premature rupture of membranes (PROM) was significantly higher in the early-onset PVL group (P=0.041). No significant differences were observed in neurodevelopmental outcomes between the early- and late-onset PVL groups. CONCLUSION: Results suggest that a higher incidence of PROM was associated with clinical characteristics in the early-onset PVL group. No significant intergroup differences were observed in neurodevelopmental outcomes; however, the Bayley Scales of Infant Development-III scores were lower in the early-onset PVL group.

Risk Factors for Delayed Hyperthyrotropinemia in Late Preterm Infants

PURPOSE: This study aimed to investigate the prevalence of delayed thyroid dysfunction based on iodine disinfectant use and to analyze associated risk factors.METHODS: A retrospective study was conducted on late preterm infants admitted to the neonatal intensive care unit between January 2010 and June 2018, who underwent neonatal thyroid screening (NTS) and ≥2 thyroid function tests (TFTs). NTS was performed 3 days after birth, with at least two TFTs 1 week and 2 to 4 weeks after birth. To distinguish between normal and dysfunctional thyroid levels, we reviewed TFT results at 2 to 4 weeks and examined possible risk factors for the development of thyroid dysfunction.RESULTS: Of 295 late preterm infants, 262 were enrolled with a mean gestational age and birth weight of 34.8±0.7 weeks and 2,170±454 g, respectively. A total of 7.6% developed hyperthyrotropinemia at the age of 24.3±14.6 days (range, 12 to 69). The incidence of hyperthyrotropinemia during iodine use was approximately 12.6%, while that during discontinuation was 2.4% (P=0.002). Multivariate analysis revealed that small for gestational age (SGA), iodine disinfectant use, and abnormal NTS results were significant risk factors for delayed hyperthyrotropinemia (adjusted odds ratio [AOR]: 4.27, P=0.008; AOR: 8.24, P=0.003; and AOR: 7.80, P=0.002, respectively).CONCLUSION: Delayed hyperthyrotropinemia was prevalent in late preterm infants exposed to topical iodine and those identified as being SGA. Secondary TFTs should be considered 2 to 4 weeks after birth for this population at risk.

A Rare Case of Unilateral Pleural Effusion in a Pediatric Patient on Chronic Peritoneal Dialysis: Is it a Pleuroperitoneal Leakage?

Non-infectious complications of peritoneal dialysis (PD) are relatively less common than infectious complications but are a potentially serious problem in patients on chronic PD. Here, we present a case of a non-infectious complication of PD in a 13-year-old boy on chronic PD who presented with symptoms such as hypertension, edema, dyspnea, and decreased ultrafiltration. Chest and abdominal radiography showed pleural effusion and migration of the PD catheter tip. Laparoscopic PD catheter reposition was performed because PD catheter malfunction was suspected. However, pleural effusion relapsed whenever the dialysate volume increased. To identify peritoneal leakage, computed tomography (CT) peritoneography was performed, and a defect of the peritoneum in the left lower abdomen with contrast leakage to the left rectus and abdominis muscles was observed. He was treated conservatively by transiently decreasing the volume of night intermittent PD and gradually increasing the volume. At the 2-year follow-up visit, the patient had not experienced similar symptoms. Patients on PD who present with refractory or recurrent pleural effusion that does not respond to therapy should be assessed for the presence of infection, catheter malfunction, and pleuroperitoneal communication. Thoracentesis and CT peritoneography are useful for evaluating pleural effusion, and timely examination is important for identifying the defect or fistula.

Esophageal Reconstruction with Gastric Pull-up in a Premature Infant with Type B Esophageal Atresia

Esophageal atresia (EA) with proximal tracheoesophageal fistula (TEF; gross type B) is a rare defect. Although most patients have long-gap EA, there are still no established surgical guidelines. A premature male infant with symmetric intrauterine growth retardation (birth weight, 1,616 g) was born at 35 weeks and 5 days of gestation. The initial diagnosis was pure EA (gross type A) based on failure to pass an orogastric tube and the absence of stomach gas. A “feed and grow” approach was implemented, with gastrostomy performed on postnatal day 2. A fistula was detected during bronchoscopy for recurrent pneumonia; thus, we confirmed type B EA and performed TEF excision and cervical end esophagostomy. As the infant's stomach volume was insufficient for bolus feeding after reaching a body weight of 2.5 kg, continuous tube feeding was provided through a gastrojejunal tube. On the basis of these findings, esophageal reconstruction with gastric pull-up was performed on postnatal day 141 (infant weight, 4.7 kg), and he was discharged 21 days postoperatively. At 12 months after birth, there was no catch-up growth; however, he is currently receiving a baby food diet without any complications. In patients with EA, bronchoscopy is useful for confirming TEF, whereas for those with long-gap EA with a small stomach volume, esophageal reconstruction with gastric pull-up after continuous feeding through a gastrojejunal tube is worth considering.

A neonate with Joubert syndrome presenting with symptoms of Horner syndrome / 소아과

Joubert syndrome (JS) is characterized by the “molar tooth sign” (MTS) with cerebellar vermis agenesis, episodic hyperpnea, abnormal eye movements, and hypotonia. Ocular and oculomotor abnormalities have been observed; however, Horner syndrome (HS) has not been documented in children with JS. We present the case of a 2-month-old boy having ocular abnormalities with bilateral nystagmus, left-dominant bilateral ptosis, and unilateral miosis and enophthalmos of the left eye, which were compatible with HS. Brain magnetic resonance imaging (MRI) revealed the presence of the MTS. Neck MRI showed no definite lesion or mass around the cervical sympathetic chain. His global development was delayed. He underwent ophthalmologic surgery, and showed some improvement in his ptosis. To the best of our knowledge, the association of HS with JS has not yet been described. We suggest that early neuroimaging should be considered for neonates or young infants with diverse eye abnormalities to evaluate the underlying etiology.

In silico Screening of Chemical Libraries to Develop Inhibitors That Hamper the Interaction of PCSK9 with the LDL Receptor

PURPOSE: Proprotein convertase subtilisin/kexin type 9 (PCSK9) binds to the low density lipoprotein receptor (LDLR) and promotes degradation of the LDLR. Inhibition of PCSK9 either by reducing its expression or by blocking its activity results in the upregulation of the LDLR and subsequently lowers the plasma concentration of LDL-cholesterol. As a modality to inhibit PCSK9 action, we searched the chemical library for small molecules that block the binding of PCSK9 to the LDLR. MATERIALS AND METHODS: We selected 100 chemicals that bind to PCSK9 where the EGF-AB fragment of the LDLR binds via in silico screening of the ChemBridge chemical library, using the computational GOLD algorithm analysis. Effects of chemicals were evaluated using the PCSK9-LDLR binding assay, immunoblot analysis, and the LDL-cholesterol uptake assay in vitro, as well as the fast performance liquid chromatography assay for plasma lipoproteins in vivo. RESULTS: A set of chemicals were found that decreased the binding of PCSK9 to the EGF-AB fragment of the LDLR in a dose-dependent manner. They also increased the amount of the LDLR significantly and subsequently increased the uptake of fluorescence-labeled LDL in HepG2 cells. Additionally, one particular molecule lowered the plasma concentration of total cholesterol and LDL-cholesterol significantly in wild-type mice, while such an effect was not observed in Pcsk9 knockout mice. CONCLUSION: Our findings strongly suggest that in silico screening of small molecules that inhibit the protein-protein interaction between PCSK9 and the LDLR is a potential modality for developing hypercholesterolemia therapeutics.

Characteristics of pediatric noniatrogenic pneumomediasinum

PURPOSE: Pneumomediastinum is rare in children and adolescents, and its causes have not yet been clearly determined. We aimed to identify the causes, clinical manifestations and prognosis of noniatrogenic pneumomediastinum in children. METHODS: From February 2007 to June 2014, we retrospectively investigated 121 patients with pneumomediastinum under 18 years of age in 2 hospitals. Eighteen patients with pneumomediastinum after thoracotomy and 35 patients with iatrogenic pneumomediastinum were excluded. RESULTS: Sixty-eight patients were divided into 4 age groups: those under 1 year of age (n=9, 13.2%), those 1 to 5 years of age (n=9, 13.2%), those 6 to 10 years of age (n=17, 25.0%) and those over 11 years of age (n=33, 48.5%). Chest pain (n=43, 63.2%) was the most common initial complaint and subcutaneous emphysema was identified in 18 patients (26.5%). Chest x-ray was diagnostic in all except 9 patients (13.2%). Predisposing causes of pneumomediastinum were idiopathic (n=26, 38.2%), respiratory tract infection (n=23, 33.8%), asthma exacerbation (n=4, 5.9%), trauma (n=4, 5.9%), endobronchial foreign body (n=2, 2.9%), interstitial lung disease (n=5, 7.4%), and neonatal respiratory disease (n=4, 5.9%). Chest pain (P<0.001) and idiopathic cause (P=0.001) were shown to linearly increase with age. On the contrary, tachypnea (P<0.001), dyspnea (P=0.016), and interstitial lung disease (P=0.008) were shown to have a decreasing linear association with age. The length of hospital stay was significantly increased in patients with interstitial lung disease (P=0.042), those with pneumothorax (P=0.044), and those without chest pain (P=0.013). CONCLUSION: According to age groups, there were significant differences in causes and clinical manifestations. In particular, pneumomediastinum that developed in younger patients with interstitial lung disease showed unfavorable outcomes, such as dyspnea, pneumothorax, and increased length of hospital stay. Therefore, precise evaluation of predisposing causes and careful management are needed for children with pneumomediastinum.

Congenital Internal Hernia Presented with Life Threatening Extensive Small Bowel Strangulation / 대한소아소화기영양학회지

Internal hernia (IH) is a rare cause of small bowel obstruction occurs when there is protrusion of an internal organ into a retroperitoneal fossa or a foramen in the abdominal cavity. IH can be presented with acute or chronic abdominal symptom and discovered by accident in operation field. However, various kinds of imaging modalities often do not provide the assistance to diagnose IH preoperatively, but computed tomography (CT) scan has a high diagnostic accuracy. We report a case of congenital IH in a 6-year-old boy who experienced life threatening shock. CT scan showed large amount of ascites, bowel wall thickening with poor or absent enhancement of the strangulated bowel segment. Surgical exploration was performed immediately and had to undergo over two meters excision of strangulated small bowel. To prevent the delay in the diagnosis of IH, we should early use of the CT scan and take urgent operation.