Lipidomic biomarkers in plasma correlate with disease severity in adrenoleukodystrophy.

Background: X-linked adrenoleukodystrophy (ALD) is a neurometabolic disorder caused by pathogenic variants in ABCD1 resulting very long-chain fatty acids (VLCFA) accumulation in plasma and tissues. Males can present with various clinical manifestations, including adrenal insufficiency, spinal cord disease, and leukodystrophy. Female patients typically develop spinal cord disease and peripheral neuropathy.

Derivation and Validation of an Optimal Neutrophil Gelatinase-Associated Lipocalin Cutoff to Predict Stage 2/3 Acute Kidney Injury (AKI) in Critically Ill Children.

Introduction: Acute kidney injury (AKI) defined by changes in serum creatinine (SCr), or oliguria is associated with increased morbidity and mortality in children who are critically ill. We derived and validated a clinical cutoff value for urine neutrophil gelatinase-associated lipocalin (NGAL), in a prospective multicenter study of children who were critically ill. We report the clinical performance of urine NGAL (uNGAL) to aid in pediatric AKI risk assessment.

Effect of pre-emptive rituximab on EBV DNA levels and prevention of post-transplant lymphoproliferative disorder in pediatric kidney transplant recipients: A case series from the pediatric nephrology research consortium.

Background: There are scant data on the effect of rituximab on EBV DNA levels and prevention of post-transplant lymphoproliferative disorder (PTLD) in pediatric kidney transplant recipients with EBV DNAemia.

Methods: Kidney transplant recipients with EBV DNAemia treated with rituximab to prevent PTLD between 7/1999 and 7/2019 at five pediatric centers were included. Those with confirmed PTLD at the onset of rituximab were excluded.

Comparison of Laryngeal Mask Airway and Endotracheal Tube Placement in Neonates.

Objective: We hypothesize that the time, number of attempts and physiologic stability of placement of an LMA would be superior compared to ETT.

Study Design: Videotape and physiologic parameters of LMA (n = 36) and ETT (n = 31) placement procedures for infants 28-36 weeks gestation were reviewed.

Results: Duration of attempts (32 vs 66 sec, p < 0.

Renal outcome and plasma methylmalonic acid levels after isolated or combined liver or kidney transplantation in patients with methylmalonic acidemia: A multicenter analysis.

Background: Methylmalonic acidemia (MMAemia) is characterized by accumulation of methylmalonic acid (MMA) in all body tissues. To minimize disease-related complications, isolated kidney (KTx), liver (LTx) or combined liver-kidney transplantation (LKTx) have been suggested. However, the impact of these different transplant strategies on outcome are unclear.

MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines.

Background: Among boys with X-Linked adrenoleukodystrophy, a subset will develop childhood cerebral adrenoleukodystrophy (CCALD). CCALD is typically lethal without hematopoietic stem cell transplant before or soon after symptom onset. We sought to establish evidence-based guidelines detailing the neuroimaging surveillance of boys with neurologically asymptomatic adrenoleukodystrophy.

Partial gonadal dysgenesis associated with a pathogenic variant of transcription factor.

A term neonate was admitted to the Neonatal Intensive Care Unit for respiratory distress, hypotonia and atypical genitalia. Significant findings included a small phallic structure, labial folds, no palpable gonads and two perineal openings. Pelvic ultrasound showed uterine didelphys and a gonad in the right inguinal canal.

Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy.

Background: In X-linked adrenoleukodystrophy, mutations in ABCD1 lead to loss of function of the ALD protein. Cerebral adrenoleukodystrophy is characterized by demyelination and neurodegeneration. Disease progression, which leads to loss of neurologic function and death, can be halted only with allogeneic hematopoietic stem-cell transplantation.

mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.

Background: Cohesinopathies are rare neurodevelopmental disorders arising from a dysfunction in the cohesin pathway, which enables chromosome segregation and regulates gene transcription. So far, eight genes from this pathway have been reported in human disease. belongs to the STAG subunit of the core cohesin complex, along with five other subunits.

Current Results and Future Research Priorities in Late Effects after Hematopoietic Stem Cell Transplantation for Children with Sickle Cell Disease and Thalassemia: A Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric Hematopoietic Stem Cell Transplantation.

Sustained donor engraftment after allogeneic hematopoietic cell transplantation (HCT) converts to healthy donor hemoglobin synthesis and halts disease symptoms in patients with sickle cell disease and thalassemia major. A disease-free survival probability that exceeds 90% has been reported when HCT using an HLA-matched sibling donor is performed in young patients with low-risk disease or treatment-related risk factors. Alternate donor HCT and HCT in adults is performed infrequently because of a higher risk profile.

Using Simulation in Global Health: Considerations for Design and Implementation.

Providers and educators increasingly participate in global health work during their careers. Simulation can play an important role in both preparing learners for work in resource-limited settings and training providers in these countries. However, little guidance exists for educators interested in creating and implementing scenarios for these settings.

Bacteremia in nonneutropenic pediatric oncology patients with central venous catheters in the ED.

Objective: To examine clinical characteristics associated with bacteremia in febrile nonneutropenic pediatric oncology patients with central venous catheters (CVCs) in the emergency department (ED).

Background: Fever is the primary reason pediatric oncology patients present to the ED. The literature states that 0.

Role of ketamine for analgesia in adults and children.

Ketamine an N-methyl-D-aspartate (NMDA) receptor blocking agent and a dissociative anesthetic with neurostimulatory side effects. In recent years, multiple research trials as well as systematic reviews and meta-analyses suggest the usefulness of ketamine as a strong analgesic used in subanesthetic intravenous doses, and also as a sedative. In addition, ketamine was noted to possess properties of anti-tolerance, anti-hyperalgesia and anti-allodynia most likely secondary to inhibition of the NMDA receptors.

Screening for Asymptomatic Gonorrhea and Chlamydia in the Pediatric Emergency Department.

Background: Because adolescents rely heavily on emergency services for health care, a pediatric emergency department (PED) visit may be their only opportunity for sexually transmitted infection (STI) screening. The primary objectives of this study were to determine the proportion of Neisseria gonorrheae (GC) and Chlamydia trachomatis (CT) infections in asymptomatic PED adolescents and patient-perceived barriers to STI screening.

Methods: A convenience sample of patients aged 14 to 21 years presenting to an urban PED with nongenitourinary complaints was offered screening for GC and CT.

Progression of Hip Dysplasia in Mucopolysaccharidosis Type I Hurler After Successful Hematopoietic Stem Cell Transplantation.

Background: Dysostosis multiplex contributes substantially to morbidity in patients with Hurler syndrome (mucopolysaccharidosis type I Hurler phenotype [MPS I-H]), even after successful hematopoietic stem cell transplantation (HSCT). One of the hallmarks of dysostosis multiplex in MPS I-H is hip dysplasia, which often requires surgical intervention. We sought to describe in detail the course of hip dysplasia in this group of patients, as assessed by radiographic analysis, and to identify potential outcome predictors.

Global left ventricular relaxation: A novel tissue Doppler index of acute rejection in pediatric heart transplantation.

Background: Serial invasive cardiac catheterization with endomyocardial biopsies (EMBs) is the current standard of reference for evaluation after orthotopic heart transplant (OHTx). We developed a novel, non-invasive echocardiographic index of global left ventricular relaxation (LVRI) and assessed its sensitivity, specificity and predictive value for detecting rejection compared with EMB results in a prospective study conducted from September 2012 through May 2014.

Methods: LVRI was calculated as the sum of diastolic tissue Doppler imaging (TDI) velocities (E') of the left ventricular lateral, septal and posterior walls divided by the percentage of left ventricular posterior wall (LVPW) thinning by M-mode.

Understanding Cultural Beliefs in Families of Somali Children with Diabetes in the Twin Cities, Minnesota.

Describe cultural beliefs related to diabetes in Minnesota Somali children with type 1 diabetes (T1D), and compare their diabetes control to that of non-Somali children with diabetes. A cross-sectional study involving Somali children ≤ 19 years with T1D at the University of Minnesota Masonic Children's Hospital and Children's Hospitals and Clinics of Minnesota. A survey was administered to parents of all participants and to children aged ≥ 12 years.

Non-tuberculous mycobacterial infection in hospitalized children: a case series.

Non-tuberculous mycobacteria (NTM) illness is an emerging life-threatening infection, and paediatric features have not been well studied. The objective of our study was to review the NTM isolates of hospitalized paediatric patients identified at our institution and to describe the characteristics of these cases. Our retrospective chart review from 2010 to 2013 identified 45 patients with 46 positive NTM cultures.

The Impact of Neonatal Illness on Nutritional Requirements-One Size Does Not Fit All.

Sick neonates are at high risk for growth failure and poorer neurodevelopment than their healthy counterparts. The etiology of postnatal growth failure in sick infants is likely multi-factorial and includes undernutrition due to the difficulty of feeding them during their illness and instability. Illness also itself induces fundamental changes in cellular metabolism that appear to significantly alter nutritional demand and nutrient handling.