Evaluation of a New Tandem Mass Spectrometry Method for Sickle Cell Disease Newborn Screening.

In France, sickle cell disease newborn screening (SCD NBS) has been targeted to at-risk regions since 1984, but generalization to the whole population will be implemented from November 2024. Although tandem mass spectrometry (MS/MS) is already used for the NBS of several inherited metabolic diseases, its application for SCD NBS has not been widely adopted worldwide. The aim of this study was to evaluate a dedicated MS/MS kit (Targeted MS/MS Hemo, ZenTech, LaCAR Company, Liege, Belgium) for SCD NBS and to compare the results obtained with those from an NBS reference center using matrix-assisted laser desorption/ionization time of flight (MALDI-TOF) and cation-exchange high-performance liquid chromatography (CE-HPLC, Variant NBS, Biorad Laboratories, Inc.

Exploring the Landscape of Perioperative Immediate Hypersensitivity: A Comprehensive 6-Year Monocentric Observational Analysis on Epidemiology and Risk Factors.

Introduction: Perioperative immediate hypersensitivity (POH) is a rare complication estimated at 1/10,000 anaesthesia. The objective of our study was to investigate the risk factors of POH over a 6-year period in a French teaching hospital.

Materials And Methods: A single-centre retrospective descriptive epidemiological study of patients treated in the operating room from January 2016 to December 2021 with and without POH.

Emerging from critique towards liberation: A Framework in leadership education.

What does liberation look like in leadership learning and education? This article offers examples for (re)imagining leadership education in program design, coordination, and assessment by centering the leadership for liberation framework and other liberatory approaches. The authors offer examples of how these frameworks serve as an entry point for college student liberatory leadership learning.

Fluid sources and overpressures within the central Cascadia Subduction Zone revealed by a warm, high-flux seafloor seep.

Pythia's Oasis is a newly discovered seafloor seep on the Central Oregon segment of the Cascadia Subduction Zone, where focused venting emits highly altered fluids ~9°C above the background temperature. The seep fluid chemistry is unique for Cascadia and includes extreme enrichment of boron and lithium and depletion of chloride, potassium, and magnesium. We conclude that the fluids are sourced from pore water compaction and mineral dehydration reactions with minimum source temperatures of 150° to 250°C, placing the source at or near the plate boundary offshore Central Oregon.

[Discordant Down syndrome risk calculation with low maternal serum markers: About five cases of digynic triploidies].

Objective: We compare the risk of Down syndrome among five patients carrying a foetus with digynic triploidy and suggest a course of action for these particular serological profiles.

Methods: The concentrations of the different markers used are transformed into multiples of the median by using each of the three software types present on the French market which then determine the risk of Down syndrome.

Results: For comparable biochemical and ultrasound profiles, the risk of Down syndrome turns out to be vastly different depending on the type of software employed.

Peri-operative management of an adult with POLG-related mitochondrial disease.

POLG-related mitochondrial disease is a rare mitochondrial disorder that is potentially associated with anaesthetic complications such as propofol-related infusion syndrome. A 19-year-old man with mitochondrial DNA deletions and POLG-related disorders presented for an elective robotic Heller-Dor myotomy for the treatment of oesophageal pseudo-achalasia associated with severe gastro-oesophageal reflux. The fasting period was minimised to reduce the risk of metabolic stress.

Using a Collective Impact Model in Communities to Improve the Physical Environment.

The physical environment-the places where individuals live, work, and play-can cause or prevent serious health conditions including chronic diseases and obesity. In North Carolina, the Collective Impact Model serves as the foundation on which multisector community coalitions can address environmental and policy barriers for improved health.

[Uncertainty of measurement and result from a complex calculation: about the risk of fetal Down's syndrome by maternal serum markers].

Screening for fetal Down's syndrome has the peculiarity of combining the biochemical assay of 2 or 3 serum markers with the risk associated with maternal age. If the accuracy of measurement of each parameter is known by the biologist, the uncertainty of the ultimate risk to the patient is not. Indeed, the means of risk calculation involve numerous multi-parameter equations which are not practical for daily use.

Leukocytosis interference in clinical chemistry: Shall we still interpret test results without hematological data?

Background: Extreme leukocytosis is known to induce remarkable variations of some clinical chemistry tests, thus leading to possible clinical misinterpretation. This study aimed to define whether also moderate leukocytosis may influence the stability of glucose and blood gases.

Methods: Blood samples are sent to the local laboratory through a pneumatic tube system.

Erythraeus (Parerythraeus) thomasi sp. nov. (Acari: Actinotrichida: Erythraeidae) from Finland, with a redefinition of Parerythraeus Southcott, 1946 stat. nov. as a subgenus and a key to species.

Erythraeus (Parerythraeus) thomasi sp. nov. is described and illustrated based on specimens collected from Finland.

Case reports: novel TUBG1 mutations with milder neurodevelopmental presentations.

Background: Tubulinopathies result from mutations in tubulin genes, including TUBG1, responsible for cell microtubules, are characterized by brain development abnormalities, microcephaly, early-onset epilepsy, and motor impairment. Only eleven patients with TUBG1 mutations have been previously described in literature to our knowledge. Here we present two new patients with novel de novo TUBG1 mutations and review other cases in the literature.

Pneumatic tube system transport and false hyperkalemia related to leukocytosis: a retrospective analysis.

Unlabelled: Extreme leukocytosis may lead to false hyperkalemia when blood samples are conveyed by pneumatic tube system (PTS). The aim of this study was to define whether even moderate leukocytosis and also non malignancy cells like neutrophils may influence potassium values after PTS transportation.

Materials And Methods: Uncentrifuged blood samples are sent to the local laboratory through PTS.

Teacher Authority in Long-Lasting Cases of Bullying: A Qualitative Study from Norway and Ireland.

A growing body of research shows a correlation between an authoritative school climate and lower levels of bullying. One objective of this study is to conceptualize authoritative intervention in bullying cases. A second goal is to explore whether, and how, the pupils, having experienced traditional and /or cyber victimization, perceive that the class teacher is demonstrating authoritative leadership when intervening in long-lasting cases of bullying.

Pattern of Brain Injury Predicts Long-Term Epilepsy Following Neonatal Encephalopathy.

Objective: To determine if patterns of hypoxic-ischemic brain injury on magnetic resonance imaging (MRI) in term newborns predict subsequent childhood epilepsy.

Methods: This retrospective cohort study includes term newborns with encephalopathy (n = 181) born between 2004-2012 and admitted to British Columbia Children's Hospital. MRI was performed between 3 and 5 days of age.

Benefit of point of care testing in patient with major hyperleukocytosis.

We report a case of a child with major leukocytosis (800 × 10/L) leading to a false increase in plasma potassium and an unexpected spurious decrease in sodium. To suppress interferences due to hyperleukocytosis, our laboratory protocol consists of collecting blood on Clotting Activator/Serum tubes (CAS) and/or carrying samples by human courier. CAS tube analysis showed a decreased level of hyperkalemia and sodium within the reference range (consistent with point of care measurements).

Conveyance Contact Investigation for Imported Middle East Respiratory Syndrome Cases, United States, May 2014.

In 2014, the Centers for Disease Control and Prevention conducted conveyance contact investigations for 2 Middle East respiratory syndrome cases imported into the United States, comprising all passengers and crew on 4 international and domestic flights and 1 bus. Of 655 contacts, 78% were interviewed; 33% had serologic testing. No secondary cases were identified.

Case Report.

Glutaminyl-tRNA synthetase (QARS) deficiency has been described to be a cause of a neurodegenerative disorder associated with severe developmental delay, microcephaly, delayed myelination, and intractable epilepsy. The epilepsy is thought to be more severe than other tRNA synthetase disorders. Only a few cases have been reported in the literature and there is little information about response to different treatment options.

The cervicosternolaparotomy approach for the treatment of graft dysfunction after retrosternal esophageal reconstruction for caustic injuries.

Objective: The study purpose was to report the indications, technical aspects, and outcomes of cervicosternolaparotomy during revision surgery after esophageal reconstruction for caustic injuries.

Methods: Patients who underwent cervicosternolaparotomy during revision surgery for graft dysfunction between 1999 and 2015 were included. Cervicosternolaparotomy was performed to mobilize and pull up the primary conduit during surgery for strictures (rescue cervicosternolaparotomy) or to allow retrosternal access for management of other graft-related complications (exposure cervicosternolaparotomy).

Tracing Airline Travelers for a Public Health Investigation: Middle East Respiratory Syndrome Coronavirus (MERS-CoV) Infection in the United States, 2014.

Objective: CDC routinely conducts contact investigations involving travelers on commercial conveyances, such as aircrafts, cargo vessels, and cruise ships.

Methods: The agency used established systems of communication and partnerships with other federal agencies to quickly provide accurate traveler contact information to states and jurisdictions to alert contacts of potential exposure to two travelers with Middle East Respiratory Syndrome Coronavirus (MERS-CoV) who had entered the United States on commercial flights in April and May 2014.

Results: Applying the same process used to trace and notify travelers during routine investigations, such as those for tuberculosis or measles, CDC was able to notify most travelers of their potential exposure to MERS-CoV during the first few days of each investigation.

Low plasma magnesium is associated with impaired brain metabolism in neonates with hypoxic-ischaemic encephalopathy.

Aim: To determine the association between lowest plasma magnesium concentration and brain metabolism, and whether magnetic resonance imaging brain injury patterns moderated the association in hypoxic-ischemic encephalopathy.

Methods: In 131 early (day-of-life 3) and 65 late (day-of-life 10) scans of term encephalopathic infants born between 2004 and 2012, we examined the association of lowest plasma magnesium (until day-of-life 3) on basal ganglia and white matter peak metabolite ratios on magnetic resonance spectroscopy independent of covariates, stratified by the predominant patterns of injury (normal, basal nuclei/total, watershed, multifocal) using multiple linear regression.

Results: Lowest plasma magnesium was associated with lower white matter N-acetyl-aspartate/choline in the multifocal pattern on early scan (regression-coefficient, β: 0.

Computed Tomography Evaluation of Esophagogastric Necrosis After Caustic Ingestion.

Background: Endoscopy is the standard of care for emergency patient evaluation after caustic ingestion. However, the inaccuracy of endoscopy in determining the depth of intramural necrosis may lead to inappropriate decision-making with devastating consequences. Our aim was to evaluate the use of computed tomography (CT) for the emergency diagnostic workup of patients with caustic injuries.

Reliability of Early Magnetic Resonance Imaging (MRI) and Necessity of Repeating MRI in Noncooled and Cooled Infants With Neonatal Encephalopathy.

In cooled newborns with encephalopathy, although late magnetic resonance imaging (MRI) scan (10-14 days of age) is reliable in predicting long-term outcome, it is unknown whether early scan (3-6 days of life) is. We compared the predominant pattern and extent of lesion between early and late MRI in 89 term neonates with neonatal encephalopathy. Forty-three neonates (48%) were cooled.

Public health response to commercial airline travel of a person with Ebola virus infection - United States, 2014.

Before the current Ebola epidemic in West Africa, there were few documented cases of symptomatic Ebola patients traveling by commercial airline, and no evidence of transmission to passengers or crew members during airline travel. In July 2014 two persons with confirmed Ebola virus infection who were infected early in the Nigeria outbreak traveled by commercial airline while symptomatic, involving a total of four flights (two international flights and two Nigeria domestic flights). It is not clear what symptoms either of these two passengers experienced during flight; however, one collapsed in the airport shortly after landing, and the other was documented to have fever, vomiting, and diarrhea on the day the flight arrived.