Spontaneous Intracranial Hypotension: Role of Computed Tomography-guided Cervical Epidural Blood Patch.

Background: Lumbar epidural blood patch (EBP) is not successful in all cases of cerebrospinal fluid (CSF) leak, particularly in the cervicothoracic region. The present study is a retrospective analysis of a cohort of patients who had undergone computed tomography (CT)-guided cervical EBP for spontaneous intracranial hypotension (SIH) due to CSF leak in the cervical region.

Methods: We retrospectively collected data from March 2009 to 2020.

A Fatal Case of 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency in a Term Infant with Severe High Anion Gap Acidosis and Review of the Literature.

3-hydroxy isobutyl-CoA hydrolase (HIBCH) deficiency is a recently described, rare inborn error of valine metabolism associated with a Leigh syndrome-like phenotype, neurodegenerative symptoms, and caused by recessive mutations in the HIBCH gene. We report the most severe case to date of an intrauterine growth-restricted term male who presented with severe acidosis and a high anion gap soon after birth. The manifestation was fatal that led to death within 36 hours of life.

Timing and risk factors associated with acute kidney injury in infants with necrotizing enterocolitis.

Objective: To evaluate the prevalence, onset, risk factors, and mortality associated with acute kidney injury (AKI) in infants with necrotizing enterocolitis (NEC).

Design/methods: Retrospective study at 2 centers in infants with NEC, with/without AKI. AKI assessed by serum creatinine and urine output.

Influence of birth-related maternal and neonatal factors on the levels of energy metabolism mediators in infants born at 32 or fewer weeks of gestation.

Background: Energy metabolism mediators, which include the adipokines (leptin, adiponectin, ghrelin) and insulin-like growth factor 1 [IGF-1], are hormone-like proteins, produced and expressed in the placenta and fetal membranes, with properties featuring metabolic adaptation and inflammatory processes. Due to the complexity of the metabolic adaptation of preterm neonates during the transition to extrauterine life, it becomes essential to recognize the factors that influence the alteration of the adipokines and IGF-1 levels in the early postpartum stage.This study assessed the significance of maternal-fetal-neonatal factors in predicting the levels of leptin, adiponectin, ghrelin, and IGF-1 in preterm infants born at 32 or fewer weeks of gestation, during the early stage of postnatal adaptation.

Extreme prematurity-associated alterations of pulmonary inflammatory mediators before and after surfactant administration.

Background: The role of prematurity and pulmonary inflammation in the pathogenesis of bronchopulmonary dysplasia (BPD) is very well-defined. However, there is limited knowledge about whether the level of prematurity and surfactant therapy alter the pulmonary cytokines and endothelial growth factor (VEGF).

Methods: This study analyzed the VEGF and cytokines, including interleukin (IL)-1β, IL-6, IL-8, and IL-10, and tumor necrosis factor α (TNF-α) in the tracheal aspirate (TA) of preterm infants obtained before (within 2 h after birth) and 10-12 h after the administration of the first dose of surfactant.

Spondylocostal dysplasia and brachydactyly associated with TBX6 and IHH variants: A case report.

We report a preterm male neonate presenting with a short trunk, short neck, low hairline, deformed ears, preauricular skin tag, penoscrotal transposition (PT), palmar crease, short and broad fingers and toes (brachydactyly), hypoplastic and deep-set nails, metatarsal abductus, and cross-fused, small echogenic kidneys. Radiologic findings and genetic studies are consistent with spondylocostal dysostosis (SCD) and autosomal dominant brachydactyly. This is the first case report of spondylocostal dysostosis and brachydactyly associated with and variants.

Prune Belly Syndrome Associated with Interstitial 17q12 Microdeletion.

We report a term male neonate presenting with a "prune belly," bilateral hydronephrosis, hydroureter, posterior urethral obstruction, and bilateral undescended testes. Analysis with the whole genome SNP microarray revealed an interstitial deletion of about 1.49 megabase (MB) at chromosome 17q12.

Multiparametric Magnetic Resonance Imaging in Evaluation of Clinically Significant Prostate Cancer.

 In this prospective study, we evaluate the role of multiparametric magnetic resonance imaging (mp-MRI) in the assessment of clinically significant prostate cancer at 1.5 T without endorectal coil (ERC).  Forty-five men with clinical suspicion of prostate cancer (prostate-specific antigen [PSA] level > 4 ng/mL, hard prostate on digital rectal examination, and suspicious area at transrectal ultrasound [TRUS]) were evaluated using the mp-MRI protocol over a period of 24 months.

Direct antiglobulin test in the prediction of hyperbilirubinemia and predischarge bilirubin levels in infants with mother-infant blood type incompatibility.

Background: This research evaluated the association between the mother-infant blood type or rhesus (ABO or Rh) incompatibility, the pattern of neonatal jaundice, and serum bilirubin (TSB) values obtained prior to discharge from hospital of healthy born neonates with gestational age >34 weeks and birth weight >2000 g.

Methods: We utilized a laboratory and neonatal database to identify the cord blood ABO/Rh and direct antiglobulin test (DAT) and TSB measured during hospitalization and re-admission with hyperbilirubinemia for phototherapy treatment. We used hour-specific TSB to analyze the TSB levels for ABO/Rh compatibility and isoimmunization using chi-square, analysis of variance, and regression models.

Role of the Proportional Intake of Fortified Mother's Own Milk in the Weight Gain Pattern of Their Very-Preterm-Born Infants.

Breastfeeding has been recommended for preterm infants as the optimal diet from nutritional, gastrointestinal, immunological, and developmental perspectives. However, the relevance of differing intakes of fortified mother's own milk (MOM) on the growth of their preterm infants is a challenging question because of the potential risk of extrauterine growth impairment, apart from its essential role in the provision of biological and immunological factors, and the reduction of serious morbidities. We aimed to identify the weight gain pattern in very-preterm-born infants with respect to their proportional intake of fortified MOM.

Multiple Congenital Anomalies in a Patient with Interstitial 6q26 Deletion.

We report a preterm male neonate presenting with a lumbosacral meningomyelocele, type II Arnold Chiari malformation, hypoplasia of the aortic arch, bicuspid aortic valve, ventricular septal defect, secundum atrial septal defect, multicystic dysplastic kidney, and hydronephrosis. Analysis with whole genome SNP microarray revealed an interstitial deletion of about 237 kb in chromosome 6q26. Long contiguous stretches of homozygosity (>3 Mb) were seen in 18 chromosomes with a total genomic size of 219 Mb.

Extended-Spectrum Beta-Lactamase-Producing Meningitis and Cerebral Abscess in a Neonate: Therapeutic Challenge.

We report a case of a 12-day-old term neonate with extended-spectrum beta-lactamase (ESBL) producing meningitis and cerebral abscess. The patient received a 7-day course of antibiotics just few days prior to the infection. The incidence of infections from ESBL-producing is increasingly emerging.

Pattern of intracranial findings detected on magnetic resonance imaging in surviving infants born before 29 weeks of gestation.

Despite the positive survival trend in infants born prematurely, the risk for development of intracranial lesions has remained unchanged. However, there are limitations to our understanding of the pattern of the magnetic resonance imaging (MRI) -detected brain pathology in the preterm infants surviving to discharge. The present study outlines the type of intracranial lesions and factors allied with the neonatal brain hemorrhage (NBH) and white matter injury (WMI) seen on MRI at term-equivalent age or close to discharge in infants born before 29 weeks of gestation.

8p 11 Microduplication Is Associated with Neonatal Stridor.

We report a term male infant with congenital stridor secondary to tracheomalacia and a mild coarctation of the aorta. Developmental delay was noted upon follow-up. Whole genome SNP microarray analysis showed an ∼846-kb interstitial duplication of the short arm of chromosome 8 (8p11.

11p15.4 Microdeletion Associates with Hemihypertrophy.

We report a preterm female infant with intrauterine growth retardation, dysmorphic facies, missing rib, small hands and feet, and hemihypertrophy. The results of whole genome SNP microarray analysis showed approximately 77 Kb interstitial deletion of the short arm of chromosome 11 (11p15.4).

Biliary Tract Abnormalities as a Cause of Distal Bowel Gas in Neonatal Duodenal Atresia.

Background: The presence of distal bowel gas in an infant does not exclude the diagnosis of duodenal atresia.

Case Presentation: We report a term neonate with Down syndrome. The infant developed vomiting and cyanosis with each feeding soon after birth.

Ventriculomegaly and cerebellar hypoplasia in a neonate with interstitial 11q 24 deletion in Jacobsen syndrome region.

Jacobsen syndrome (JS) is a rare contiguous gene disorder caused by partial deletion of the distal part of the long arm of chromosome 11 ranging in size from 7 to 20 Mb. We report a term male neonate with an interstitial deletion of about 12.3 megabase (Mb) of chromosome 11q24.

Congenital second-degree heart block and total anomalous pulmonary venous return associated with microduplication of 1q32.2.

We report a term female infant with congenital heart block and total anomalous of pulmonary venous return. The results of single nucleotide polymorphism oligonucleotide microarray analysis showed an interstitial duplication of approximately 818 Kb, which involved 11 genes, including the entire LAMB3 gene which is known to associate with cardiac conduction defect. Our report adds to the collective knowledge that the cardiac conduction defect is a clinical feature of chromosome 1q32.

A Giant Gastroschisis Associated with Pulmonary Hypoplasia and Spinal Anomaly: A Case Report and a Literature Review.

Gastroschisis most often occurs as an isolated anomaly and extragastrointestinal associations are rare. Most commonly, the anomalies associated with gastroschisis are cardiac and central nervous system abnormalities. Respiratory insufficiency has sometimes been reported in association with giant abdominal wall defects.

Pulmonary Vasculitis and a Horseshoe Kidney in Noonan Syndrome.

We report a term male neonate with congenital myeloproliferative disorder, thrombocytopenia, a horseshoe kidney, feeding difficulty secondary to dysphagia/foregut dysmotility, and respiratory failure. Prenatal molecular genetic analysis revealed a fetus carrying pathogenic variant in . The infant eventually succumbed to respiratory failure.

Vessel Perforation and False Tracking Resulting From Umbilical Artery Catheterization: A Case Report and Literature Review.

We report an extremely low-birth-weight neonate who developed umbilical artery perforation and false tracking. There was no life-threatening event relating to the complication. Diagnosis was made at postmortem examination.

Vein of Galen malformation in a neonate: A case report and review of endovascular management.

Vein of Galen malformation (VOGM) is a rare congenital vascular malformation caused by the maldevelopment of its embryonic precursor, the median prosencephalic vein of Markowski. VOGM results in neonatal morbidity and mortality, and premature delivery does not improve the outcome. We report a term female neonate in whom a vein of Galen malformation was diagnosed prenatally at 37 wk of gestation during a growth ultrasound and confirmed by fetal magnetic resonance imaging.

Prevalence and risk factors for vitamin D insufficiency and deficiency at birth and associated outcome.

Background: Occurrence and consequence of cord blood (CB) vitamin D insufficiency/deficiency has not been adequately explored despite rising concern regarding this topic in pediatrics. This study was designed to determine the rate, maternal risk factors, and clinical outcomes in infants in association with vitamin D insufficient/deficient status at birth.

Methods: American Academy of Pediatrics (AAP) defined levels (ng/mL) were utilized to categorize the vitamin D status in CB samples as deficient (5-15), insufficient (16-20), and sufficient (21-100).

Cleidocranial Dysplasia with 6p21.1-p12.3 Microdeletion: A Case Report and Literature Review.

Objective: The aim of this article is to publish a literature review and report on a new case of cleidocranial dysplasia syndrome with 6p21.1-p12.3 microdeletion.

VATER/VACTERL Association and Caudal Regression with Xq25-q27.3 Microdeletion: A Case Report.

We report a term female neonate with vertebral anomalies, anal and urethral atresia, esophageal atresia with tracheoesophageal fistula (TEF), renal agenesis, pulmonary hypoplasia, genital and sacral appendages, and a single umbilical artery. Genetic studies revealed a 20.91 Mb interstitial deletion of the long arm of X chromosome: Xq25-q27.