An unusual presentation of neonatal rhabdomyosarcoma: a case report.

A full-term infant with an unremarkable prenatal course presented at birth with a large midline facial mass and smaller masses in the head and neck. In addition, multiple diffuse flesh-colored nodules spread along all the upper and lower limbs. An extensive evaluation to cover a broad differential diagnosis of infectious, lymphatic/vascular, and oncologic etiology was undertaken.

Single-Cell Profiling of Premature Neonate Airways Reveals a Continuum of Myeloid Differentiation.

Single-cell genomic technologies hold great potential to advance our understanding of lung development and disease. A major limitation lies in accessing intact cells from primary lung tissues for profiling human airway health. Sampling methods such as endotracheal aspiration that are compatible with clinical interventions could enable longitudinal studies, the enrollment of large cohorts, and the development of novel diagnostics.

Lack of embryonic homozygous or adult heterozygous lymphatic phenotypes for a mutation and lack of lymphatic embryonic phenotypes for a homozygous mutation in mice.

We have studied the lymphatic phenotypes of 2 mutations, known to cause abnormalities of lymphatics in humans, in mice. The R260C mutation (variably penetrant in humans heterozygous for it and causing limb lymphedema) had an adult mouse phenotype of hyperplasia and increased lymph nodes only in homozygous condition but we did not find any anatomical phenotype in day 16.5 homozygous embryos.

Peter's anomaly-A homeotic gene disorder.

Peter's anomaly is a rare form of congenital anterior segment dysgenesis of the eye. Varying degrees of central corneal opacity and lenticulo-corneal or irido-corneal synechiae are the key hallmarks. The association of Peter's anomaly along with short stature, rhizomelia, broad short hands or brachydactyly, with facial dysmorphism, cleft lip, cleft palate, genitourinary and cardiovascular anomalies is a distinct and is often termed Peter's plus syndrome.

Neonatal testicular torsion.

Rotation of the testis around the axis of the spermatic cord results in tissue ischaemia and testicular torsion (TT). TT in the newborn infant in the 1st month of life is referred to as neonatal TT (NTT) or perinatal TT and occurs in 6.1/100, 000 live births.

Abnormal lymphatic phenotype in a CRISPR mouse model of the human lymphedema-causing Connexin47 R260C point mutation.

Connexin proteins form gap junctions controlling exchange of ions and small molecules between cells and play an important role in movement of lymph within lymphatic vessels. Connexin47 (CX47) is highly expressed in lymphatic endothelial cells and CX47 missense mutations, i.e.

necrotizing bronchopneumonia.

Extremely low birth weight (ELBW) infants are at particularly high risk for infection due to an immature immune system, invasive procedures such as endotracheal intubation, intravascular catheterization, and other factors. Neonatal infections in this population are associated with a high mortality, poor growth, and neurodevelopmental outcomes. () infection is an uncommon but potentially devastating cause of pneumonia and sepsis in the ELBW population.

Validity of Random Triglyceride Levels in Infants Receiving Parenteral Nutrition.

Intravenous lipid emulsions (IL) are an important part of parenteral nutrition (PN) to meet essential fatty acid (EFA) requirements and metabolic demands of neonates and preterm infants. Some critically-ill neonates may not metabolize IL effectively which can lead to hypertriglyceridemia. Risks associated with this include increased pulmonary vascular resistance, displaced bilirubins, and platelet or macrophage dysfunction.

A Retrospective Review Following the Addition of Clonidine to a Neonatal Abstinence Syndrome Treatment Algorithm.

To investigate the outcomes associated with the implementation of a neonatal abstinence syndrome (NAS) treatment algorithm utilizing dual therapy with morphine sulfate and clonidine in a level four neonatal intensive care unit (NICU). A cohort of neonates (≥35 weeks gestation) born at an academic tertiary medical center between January 1, 2015 and December 31, 2018 who were diagnosed with NAS were retrospectively evaluated following the implementation of a new NAS treatment algorithm. Neonates were categorized in two groups based on if they were treated pre- or post-implementation of the protocol.

Genetic Characterization of a Model Ciliopathy: Bardet-Biedl Syndrome.

Bardet-Biedl syndrome (BBS) is a rare ciliopathy affecting multiple organ systems. Patients with BBS are usually diagnosed later in childhood when clinical features of the disease become apparent. In this article, we presented a case of BBS discovered by whole genome sequencing in a newborn with heterotaxy, duodenal atresia, and complex congenital heart disease.

Perinatal testicular torsion.

Testicular torsion (TT) occurs when the testis rotates around the axis of the spermatic cord attachments and prevents blood flow to the testis, resulting in tissue ischemia. If this occurs in the first month of life it is referred to as "perinatal TT" (PTT) or "neonatal TT" (NTT). PTT has an incidence of 6.

Caudal Regression Syndrome.

Caudal Regression Syndrome (CRS) or Caudal dysgenesis syndrome (CDS) is characterized by maldevelopment of the caudal half of the body with variable involvement of the gastrointestinal, genitourinary, skeletal, and nervous systems. CRS affects 1-3 newborn infants per 100,000 live births. The prevalence in infants of diabetic mothers is reported at 1 in 350 live births which includes all the variants.

Managing Congenital Lobar Overinflation Associated with Congenital Heart Disease.

The incidence of congenital lobar overinflation (CLO) is reported at 1 in 20,000-30,000 live births and represents 10% of all congenital lung malformations. The occurrence of concomitant congenital heart disease (CHD) and CLO ranges from 12% to 20%. There are diverging views in the management as to whether early lobectomy or repair of the cardiac defect, with the assumption that respiratory symptomatology would gradually resolve, or a combined lung and cardiac repair would be the ideal first step in the management.

A Truncating Variant of as a Cause of Escobar Syndrome: A Multiple Pterygium Syndrome Subtype.

Escobar syndrome is a milder variant of multiple pterygium syndrome characterized by pterygia, scoliosis, and multiple congenital contractures. It is most frequently due to a genetic variant in , which encodes the γ-subunit of the nicotinic acetylcholine receptor. Though the subunit is considered a "fetal" form and transitions to the "adult" ε-subunit by 33 weeks' gestation, the pathogenic musculoskeletal effects during fetal development render children with this condition permanently affected.

Unique Case of Congenital Duodenal Atresia and a Choledochal Cyst and the Hypothesis of Their Embryological Evolution.

The concomitant occurrence of duodenal atresia (DA) and a choledochal cyst (CC) has rarely been reported. Knowledge of both the presentation and management of this rare co-occurrence is imperative in avoiding potential complications and sequelae, such as biliary metaplasia. Herein we describe a female infant born at 32 weeks gestational age who was diagnosed with duodenal atresia and annular pancreas postnatally, who had subsequent findings of malrotation and a choledochal cyst, as seen from contrast imaging.

Junctional ectopic tachycardia in infants and children.

Tachyarrhythmias originating in the atrioventricular (AV) node and AV junction including the bundle of His complex (BH) are called junctional tachycardia (JT) or junctional ectopic tachycardia (JET). Congenital JET (CJET) is a rare arrhythmia that occurs in patients without a preceding cardiac surgery and can be refractory to medical therapy and associated with high morbidity and mortality. CJET has a high rate of morbidity and mortality with death occurring in 35% of cases.

Congenital chylothorax: Current evidence-based prenatal and post-natal diagnosis and management.

Congenital chylothorax is an uncommon condition but represents the main cause of congenital pleural effusion during the neonatal period. It usually appears before birth, both as an isolated disorder or in association with hydrops fetalis, negatively affecting the subsequent neonatal outcome. Prenatal treatment is usually considered to ensure a satisfactory lung development in case of moderate to severe pleural effusion or in the presence of hydrops, although consensus on treatment timing and modalities has not been reached to date.

Resolution of Protein-Losing Enteropathy after Congenital Heart Disease Repair by Selective Lymphatic Embolization.

With improving survival of children with complex congenital heart disease (CCHD), postoperative complications, like protein-losing enteropathy (PLE) are increasingly encountered. A 3-year-old girl with surgically corrected CCHD (ventricular inversion/L-transposition of the great arteries, ventricular septal defect, pulmonary atresia, post-double switch procedure [Rastelli and Glenn]) developed chylothoraces. She was treated with pleurodesis, thoracic duct ligation and subsequently developed chylous ascites and PLE (serum albumin ≤0.

Complete and Incomplete Pentalogy of Cantrell.

Pentalogy of Cantrell (PC) is a malformation characterized by defects in the ventral abdominal wall, lower sternum, diaphragmatic pericardium, anterior diaphragm associated with omphalocele, thoraco-abdominal ectopia cordis, diaphragmatic hernia, and intracardiac abnormalities. PC is stratified as complete or incomplete and we present both the complete and incomplete forms.

Pneumomediastinum Mimicking Congenital Pulmonary Airway Malformation.

Pneumomediastinum is the collection of free air in the mediastinum. Its incidence is higher in preterm infants and those on positive airway pressure support or on mechanical ventilation. But it has decreased dramatically after the introduction of surfactant and synchronized, non-invasive mechanical ventilation.

Tracheal Stenosis and Congenital Heart Disease in Trisomy 21.

Tracheal rings (TR) are rare, congenital cartilaginous defect of the upper airway and are usually due to complete or near complete circumferential cartilaginous tracheal rings, with variable degrees of tracheal stenosis (TS) and shortening. Chromosomal anomalies like trisomy 21 are characteristically associated with a wide range of upper airway anomalies including TS and congenital heart disease (CHD). However, the overall prevalence of severe forms of TS is rare and reported in 1.

Permanent junctional reciprocating tachycardia in infants and Children.

Permanent junctional reciprocating tachycardia (PJRT) is a rare form of supraventricular tachycardia (SVT). It generally presents in infants but can be difficult to diagnose. The characteristic EKG findings, response to Adenosine and persistence or frequent recurrences are helpful in making the diagnosis.

Pulmonary hypertension occurring with diazoxide use in a preterm infant with hypoglycemia.

Pharmacologic modulation to open the K channels with diazoxide is useful in treating hyperinsulinemia. Diazoxide is being used more often in neonates with hyperinsulinemic hypoglycemia. This report highlights a case of severe pulmonary hypertension (PH) with re-opening of ductus arteriosus in an extremely premature infant after the use of diazoxide.