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. Early detection is imperative to prevent sensory deprivation amblyopia. Glaucoma can be present at initial diagnosis or at any stage later, but treatment can be difficult. For the dense leukoma, corneal graft may be needed but visual prognosis is poor. Research focussing on gene editing and regenerative medicine using native corneal endothelial cells is ongoing.

Immune dysregulation, polyendocrinopathy and enteropathy, X-linked (IPEX) syndrome due to a mutation in FOXP3, modified by a pathogenic variant in SON (SON DNA-binding protein).

Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked, known as IPEX syndrome, is a rare heterogeneous condition. Zhu-Tokita-Takenouchi-Kim Syndrome (ZTTK) is an autosomal dominant condition arising from a mutation in the SON gene, which is involved in mRNA splicing. A case showing interactions of mutations in these two genes is described in which both conditions become non-typical.

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. The initial suspicion was confirmed by biopsy of the skin lesion as congenital alveolar rhabdomyosarcoma (RMS). RMS is the most common soft tissue sarcoma that occurs in childhood. However, neonatal RMS is exceedingly rare. The infant's initial treatment included vincristine, dactinomycin, and cyclophosphamide in addition to salvage ifosfamide and etoposide, which were dose-adjusted for age. Herein, we present a case of an infant with RMS who showed initial improvement before relapsing and succumbing to her disease at 5 months of age. A review of the limited literature available on this rare condition and newer treatment regimens with improved mortality rates is performed.

Recombinant human activated protein C for severe sepsis in neonates.

BACKGROUND: Sepsis is a common problem in preterm and term infants. The incidence of neonatal sepsis has declined, but mortality remains high. Recombinant human activated protein C (rhAPC) possess a broad spectrum of activity modulating coagulation and inflammation. In septic adults it may reduce mortality, but no significant benefit has been reported in children with severe sepsis. OBJECTIVES: To determine whether treatment with rhAPC reduces mortality and/or morbidity in neonatal sepsis. SEARCH METHODS: For this update searches were carried out in May 2011 of the Cochrane Central Register of Controlled Trials (The Cochrane Library), MEDLINE, EMBASE, CINAHL, and abstracts of annual meetings of the Pediatric Academic Societies. Doctoral dissertations, theses and the Science Citation Index for articles on activated protein C were searched. No language restriction was applied. SELECTION CRITERIA: Randomized or quasi-randomized trials, assessing the efficacy of rhAPC compared to placebo or no intervention as an adjunct to antibiotic therapy of suspected or confirmed severe sepsis in term and preterm infants less than 28 days old. Eligible trials should report at least one of the following outcomes: mortality during initial hospital stay, neurodevelopmental assessment at two years of age or later, length of hospital stay, duration of ventilation, chronic lung disease, periventricular leukomalacia, intraventricular haemorrhage, necrotizing enterocolitis, bleeding, and any other adverse events. DATA COLLECTION AND ANALYSIS: Review authors were to independently evaluate the articles for inclusion criteria and quality, and abstract information for the outcomes of interest. Differences were to be resolved by consensus. The statistical methods were to include relative risk, risk difference, number needed to treat to benefit or number needed to treat to harm for dichotomous and weighed mean difference for continuous outcomes reported with 95% confidence intervals. A fixed effect model was to be used for meta-analysis. Heterogeneity tests, including the I(2) statistic, were to be performed to assess the appropriateness of pooling the data. MAIN RESULTS: No eligible trials were identified. In October 2011 rhAPC (Xigris®) was withdrawn from the market by Eli Lilly due to a higher mortality in a trial among adults. Xigris® (DrotAA)( rhAPC) should no longer be used in any age category and the product should be returned to the distributor. AUTHORS' CONCLUSIONS: Despite the scientific rationale for its use, there is insufficient data to use rhAPC for the management of severe sepsis in newborn infants. Due to the results among adults with lack of efficacy, an increase in bleeding and resulting withdrawal of rhAPC from the market, neonates should not be treated with rhAPC and further trials should not be conducted.

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. The true incidence could be higher as some of these occur prenatally and can be asymptomatic. TT can be extravaginal, intravaginal and mesorchial and NTT is usually extravaginal. Physical examination can be adequate for the diagnosis, and utility of ultrasound (US) is mainly to exclude other conditions. If the timing of the torsion is prenatal, the testicle may not be salvageable. But, in certain situations, these could be asymptomatic bilateral TT. When the timing of torsion is not simultaneous (asynchronous torsion) early contralateral orchiopexy done at the time of exploration would prevent the occurence of asynchronous torsion. Non.operative maneuvres to detorse in NTT are not successful and not recommended. This review focuses on the diagnostic approach and management.

A Truncating Variant of CHRNG 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 CHRNG , 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. We report a neonate with homozygous CHRNG c.117dupC and discuss some of the downstream clinical effects we observed with this variant.

Pseudomonas aeruginosa 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. Pseudomonas aeruginosa (P. aeruginosa) infection is an uncommon but potentially devastating cause of pneumonia and sepsis in the ELBW population. P. aeruginosa is an important cause of healthcare-associated infections (HAI) or nosocomial infections. P. aeruginosa can perceive unfavorable environmental changes and orchestrate adaptations by developing plasmid-mediated and adaptive resistance to antibiotics. We describe an ELBW infant born at 26 weeks' gestation who succumbed at 13 days of life to P. aeruginosa infection. Some of the factors related to the pathogenesis and multidrug resistance are described.

Validity of Random Triglyceride Levels in Infants Receiving Parenteral Nutrition.

Background: 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. Serum triglyceride (TG) concentration is used as a marker for lipid tolerance and predictor of potential complications involved with IL administration, but the clinical significance of this is still debated. Management of TG levels with regard to timing of laboratory tests, the ideal goal range, and duration of infusion of IL varies across institutions and is not standardized. Methods: Single-center, retrospective study of newborn infants receiving parenteral nutrition (PN). Fasting and non-fasting TG levels were drawn during the same lipid infusion of 2-3g/kg/day. The primary outcome was the difference between fasting and non-fasting TG levels. Statistical assessment of continuous data was done with student t-test and nominal data was evaluated using X2-test and logistic regression. Results: Forty infants were included with mean gestational age at birth of 29.5 ± 3.4 weeks and mean birth weight of 1.3 ± 0.5 kg. Mean time between lab draws while on same IL dose was 11.6 ± 0.2 h with resulting mean fasting and non-fasting (random) TG levels 82 ± 40 mg/dL (95% CI 68.4, 97.6) and 101 ± 40 mg/dL (95% CI 88.5, 115.8), respectively. Mean difference between TG levels during lipid-free interval and during infusion was -18.6 ± 51.2 mg/dL (95% CI -35.0, -2.3; p = 0.03). Conclusion: We concluded there is no difference in the management of IL, when TG level was drawn randomly or as fasting sample. Obtaining TG level during routine lab draws is appropriate. We extrapolated that the administration of IL over 24 h will not interfere with TG level.

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

Objective: 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). Study Design: 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. The primary efficacy outcome was length of hospital stay. Secondary outcomes included the incidence of adverse drug reactions, length of treatment for NAS, and maximum as well as total cumulative dose of each medication used to treat NAS. Results: The implementation of this NAS treatment algorithm significantly reduced the length of hospital stay (30 days vs. 20 days, p = 0.001). In addition, there was a significant decrease in duration of morphine sulfate exposure as well as cumulative dose of morphine required to successfully treat a neonate with NAS in the post-implementation group (26 days vs. 15 days, p = 0.002 and 6.9 mg/kg vs. 3.4 mg/kg, p = 0.031). Conclusion: Addition of clonidine to morphine sulfate as initial therapy for NAS significantly reduced the cumulative exposure as well as duration of exposure to morphine sulfate compared to morphine monotherapy and decrease length of hospital stay.