Neonatal Reference Intervals for the Complete Blood Count Parameters MicroR and HYPO-He: Sensitivity Beyond the Red Cell Indices for Identifying Microcytic and Hypochromic Disorders.

Objective: To create neonatal reference intervals for the MicroR and HYPO-He complete blood count (CBC) parameters and to test whether these parameters are sensitive early markers of disease at early stages of microcytic/hypochromic disorders while the CBC indices are still normal.

Study Design: We retrospectively collected the CBC parameters MicroR and HYPO-He, along with the standard CBC parameters, from infants aged 0-90 days at Intermountain Healthcare hospitals using Sysmex hematology analyzers. We created reference intervals for these parameters by excluding values from neonates with proven microcytic disorders (ie, iron deficiency or alpha thalassemia) from the dataset.

Warming blood products for transfusion to neonates: In vitro assessments.

Background: Blood products may be transfused into neonates at temperatures at or below room temperature. The benefits and risks of warming blood to 37°C are not defined in this population or with the equipment used in neonates. Physiologic warming might enhance product effectiveness or decrease transfusion-associated hypothermia.

Umbilical Cord Abnormalities and Stillbirth.

Objective: Umbilical cord abnormalities are commonly cited as a cause of stillbirth, but details regarding these stillbirths are rare. Our objective was to characterize stillbirths associated with umbilical cord abnormalities using rigorous criteria and to examine associated risk factors.

Methods: The Stillbirth Collaborative Research Network conducted a case-control study of stillbirth and live births from 2006 to 2008.

Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants.

Background: Exome/genome sequencing (ES/GS) have been recently used in neonatal and pediatric/cardiac intensive care units (NICU and PICU/CICU) to diagnose and care for acutely ill infants, but the effectiveness of targeted gene panels for these purposes remains unknown.

Methods: RapSeq, a newly developed panel targeting 4,503 disease-causing genes, was employed on selected patients in our NICU/PICU/CICU. Twenty trios were sequenced from October 2015 to March 2017.

Fetal presentation of congenital dyserythropoietic anemia type 1 with novel compound heterozygous CDAN1 mutations.

The congenital dyserythropoietic anemias are a heterogeneous group of disorders characterized by anemia and ineffective erythropoiesis. Congenital dyserythropoietic anemia type I (CDA1) can present in utero with hydrops fetalis, but more often it presents in childhood or adulthood with moderate macrocytic anemia, jaundice, and progressive iron-overload. CDA1 is inherited in an autosomal recessive manner, with biallelic pathogenic variants in CDAN1 or C15orf41.

Quality Improvement After Multiple Fatal Transfusion-Transmitted Bacterial Infections.

Objectives: Transfusion-transmitted bacterial infection (TTBI) from platelet components is likely underrecognized and can be fatal. Twenty-four-hour prospective culture was felt to be insufficiently preventive after multiple TTBIs occurred and strategies to improve safety were sought.

Methods: Two fatal and one severe TTBIs occurred from a split-apheresis platelet donation contaminated with Klebsiella pneumoniae.

Hemoglobin Level at Stage 1 Discharge has No Impact on Inter-stage Growth and Stability in Single Ventricle Infants.

Hemoglobin levels (Hgb) of infants with a single ventricle (SV) are traditionally maintained high to maximize oxygen-carrying capacity during stage 1 palliation (S1P), stage 2 palliation (S2P), and between stages (IS). A single-center observational cohort study was performed to determine if red blood cell transfusion during the convalescent phase of the S1P (late S1P transfusion) to achieve higher Hgb is associated with benefits during the IS including improved growth and decreased acute medical events. 137 infants <1 year with SV with SIP undergoing care from January 2008 to June 2015 were retrospectively evaluated.

Chlamydia trachomatis Is Responsible for Lipid Vacuolation in the Amniotic Epithelium of Fetal Gastroschisis.

Background: Vacuolated amniotic epithelium with lipid droplets in gastroschisis placentas is an unusual finding. Mass spectrometry of lipid droplets identified triglycerides, ester-linked to an unusual pattern of fatty acids. We hypothesize that these findings result from a Chlamydia trachomatis infection during the periconceptional period.

MEK Inhibitors Reverse Growth of Embryonal Brain Tumors Derived from Oligoneural Precursor Cells.

Malignant brain tumors are the leading cause of cancer-related deaths in children. Primitive neuroectodermal tumors of the CNS (CNS-PNETs) are particularly aggressive embryonal tumors of unknown cellular origin. Recent genomic studies have classified CNS-PNETs into molecularly distinct subgroups that promise to improve diagnosis and treatment; however, the lack of cell- or animal-based models for these subgroups prevents testing of rationally designed therapies.

Tumour eradication using synchronous thermal ablation and Hsp90 chemotherapy with protein engineered triblock biopolymer-geldanamycin conjugates.

Purpose: Hepatocellular carcinoma (HCC) suffers high tumour recurrence rate after thermal ablation. Heat shock protein 90 (Hsp90) induced post-ablation is critical for tumour survival and progression. A combination therapy of thermal ablation and polymer conjugated Hsp90 chemotherapy was designed and evaluated for complete tumour eradication of HCC.

Neonatal death suspected to be from sepsis was found to be kernicterus with G6PD deficiency.

We cared for a term male infant born to Burmese immigrants. At about 24 hours a total serum bilirubin (TSB) was 9.3 mg/dL, and phototherapy was begun.

Yolk sac tumor of the thyroid gland: a case report.

Extragonadal yolk sac tumors are uncommon and usually seen in sacrococcygeal, mediastinal, intracranial, and retroperitoneal sites. Yolk sac tumors of the head and neck region are rare, and the few reported cases have arisen in neonates or infants in conjunction with a teratoma or other germ cell tumor subtypes. We report a unique case of a pure yolk sac tumor presenting as a primary lesion in the right thyroid lobe of a 10-year-old girl.

Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency.

We have identified two families with a previously undescribed lethal X-linked disorder of infancy; the disorder comprises a distinct combination of an aged appearance, craniofacial anomalies, hypotonia, global developmental delays, cryptorchidism, and cardiac arrhythmias. Using X chromosome exon sequencing and a recently developed probabilistic algorithm aimed at discovering disease-causing variants, we identified in one family a c.109T>C (p.

Denys-Drash syndrome with neonatal renal failure in monozygotic twins due to c.1097G>A mutation in the WT1 gene.

Denys-Drash syndrome, characterized by nephrosis, dysgenetic gonads and a predisposition to Wilms tumor, is due to germline mutations in the WT1 gene. We report the pathologic findings on monozygotic twins, both of whom presented with male pseudohermaphroditism, nephrotic syndrome, and progressed to renal failure and death within the first month of life. Sequence analysis of WT1 demonstrated a G-to-A substitution in exon 8 of the gene (c.

The FG syndrome from a pathological perspective.

We report on a case of FG syndrome in an almost 6-year-old boy, diagnosed post-mortem. The description of the intellectual and behavior phenotype provided by the mother, together with the evidence gathered at autopsy, were sufficient to reach a clinical diagnosis. The mother had mild manifestations, including a symptomatic tethered cord, which established her as a carrier of the putative mutation causing the syndrome in the son.

Clinicopathologic comparison of familial versus sporadic atypical teratoid/rhabdoid tumors (AT/RT) of the central nervous system.

Background: Central nervous system (CNS) atypical teratoid/rhabdoid tumors (AT/RT) are aggressive tumors usually diagnosed in young children and characterized by SMARCB1 (INI1, hSNF5) gene abnormalities. Despite initial chemo-radiation responsiveness, most children die of progressive disease (PD). Little data regarding familial AT/RT clinical course exist.

Infarction of an extralobar pulmonary sequestration in a young child: diagnosis and excision by video-assisted thoracoscopy.

A 4-year-old male presented with abdominal pain. A computed tomography scan of the abdomen was negative, but a pleural effusion and mass was noted in the lower left thorax. Video-assisted thoracoscopic surgery revealed the mass to be a rare case of extralobar pulmonary sequestration that had undergone infarction.

Is "transfusion-associated necrotizing enterocolitis" an authentic pathogenic entity?

Background: Necrotizing enterocolitis (NEC) sometimes occurs after a transfusion, but it is unclear whether this is a chance association or cause and effect.

Study Design And Methods: We compared features of neonates that developed surgical NEC within 48 hours after transfusion with others that developed NEC not preceded by transfusion. We assessed the blood used for transfusion and feeding practices among NEC cases and controls.

Testing platelet mass versus platelet count to guide platelet transfusions in the neonatal intensive care unit.

Background: Platelet (PLT) transfusions can bestow significant benefits but they also carry risks. This study sought a safe means of reducing PLT transfusions to neonatal intensive care unit (NICU) patients with thrombocytopenia by comparing two transfusion guidelines, one based on PLT count and the other on PLT mass (PLT count times mean PLT volume).

Study Design And Methods: Using a prospective, two-centered, before versus after design, PLT transfusion usage and hemorrhagic events were contrasted during a period when PLT count-based transfusion guidelines were in use (Period 1) versus a period when PLT mass-based guidelines were in use (Period 2).

Pulmonary atresia with intact atrial and ventricular septums, unroofed coronary sinus, and absent aortocoronary arterial connections.

A stillborn fetus with pulmonary valvar atresia and intact atrial and ventricular septums also had absence of coronary arterial connections from the aorta and an unroofed coronary sinus. A left superior caval vein drained to the dilated coronary sinus. The left coronary artery was anomalously connected to the proximal branch of the right pulmonary artery, and a fistula from the right ventricle supplied the right coronary artery.

Critical values in pediatric surgical pathology: definition, implementation, and reporting in a children's hospital.

Timely communication of significant or unexpected findings in surgical pathology can significantly improve patient care. Although surgical pathology critical values have been published, no systematic assessment in pediatric surgical pathology has been published. We surveyed pediatric pathologists and pediatric subspecialists to develop pediatric surgical pathology critical values for verbal reporting before the final pathology report.

Acute appendicitis in a patient with hemolytic uremic syndrome: an unusual clinical scenario.

Gastroenteritis due to Escherichia coli O157:H7 occurs in young children and is associated with consumption of under cooked beef. Approximately 5-10% of patients will develop hemolytic uremic syndrome (HUS): renal failure, microangiopathic hemolytic anemia, and thrombocytopenia. A 6-year-old boy was admitted with abdominal pain, guaiac positive stool, decreased urine output and elevated creatinine levels.