Numbers of prenatal cell-free DNA screens performed: Results of a 2022 CAP exercise.

Objective: Determine current analytical methods and number of cell-free (cf) DNA prenatal screening tests performed for common trisomies.

Methods: The College of American Pathologists 2022-B Noninvasive Prenatal Testing exercise was distributed in December 2022 to 93 participants in 22 countries. Supplemental questions included the number of tests performed in a recent month and the proportion of samples originating outside the United States (US).

Anemia in patients undergoing chronic therapeutic plasma exchange.

Therapeutic plasma exchange is known to be an extracorporeal treatment procedure with few adverse effects. Anemia in chronically exchanged patients is not a well-recognized adverse effect. Our aim is to find if adult patients develop anemia while undergoing prolonged TPE treatments and to determine the time of onset of anemia.

Assessment of lung hyperinflation in occupational chronic obstructive pulmonary disease: a multicentric cross-sectional study.

Unlabelled: Occupational exposure is associated with elevated morbidity and lower quality of life in patients with chronic obstructive pulmonary disease (COPD). Static hyperinflation is an independent risk factor for all-cause mortality in COPD and for COPD exacerbation. In a multicentre, cross-sectional study (BPROFETIO), we sought to analyse the relationship between static hyperinflation and occupational exposure in patients with COPD with or without occupational exposure.

How do I create a partnership between a blood bank and a milk bank to provide safe, pasteurized human milk to infants?

The now 5-year collaboration between the Indiana Blood Center, now Versiti Blood Center of Indiana, and The Milk Bank has increased the number of human milk donors, improved the collection and processing of donor milk, and improved awareness of this lifesaving resource. The Indiana Blood Center provides greater visibility for The Milk Bank, creating more opportunities to reach potential donors, and can provide the screening blood test for potential donors to become approved human milk donors. The resources of the multiple locations of the Indiana Blood Center permitted the formation of new milk depots in five different cities and quicker transportation of donated milk through their active courier system.

Assessment of laboratories offering cell-free (cf) DNA screening for Down syndrome: results of the 2018 College of American Pathology External Educational Exercises.

Purpose: Summarize and interpret results from exercises distributed to laboratories offering cell-free (cf) DNA screening for Down syndrome.

Methods: The College of American Pathologists distributed three patient-derived plasma specimens twice in 2018. Sequencing platforms, test methods, results, and responses to supplemental questions were collected.

Anti-Pr antibody induced cold autoimmune hemolytic anemia following pneumococcal vaccination.

While rare, vaccination-induced autoantibodies can occur outside of the pediatric population. This diagnosis should be considered after infectious and lymphoproliferative disorders are ruled out. Clinical management will depend on the individual case, but all patients should be monitored closely.

[A specialist nurse consultation for post-transplant follow-up of patients undergoing allogeneic hematopoietic cell transplantation: Recommendations of the Francophone Society of Marrow Transplantation and Cellular Therapy (SFGM-TC)].

The number of hematopoietic stem cell transplantation is in constant rise. This increase has put in spotlight the lack of physician availability. Some healthcare centers have already organised a nurse's consultation under the supervision of an expert physician.

Glycine decarboxylase deficiency-induced motor dysfunction in zebrafish is rescued by counterbalancing glycine synaptic level.

Glycine encephalopathy (GE), or nonketotic hyperglycinemia (NKH), is a rare recessive genetic disease caused by defective glycine cleavage and characterized by increased accumulation of glycine in all tissues. Here, based on new case reports of GLDC loss-of-function mutations in GE patients, we aimed to generate a zebrafish model of severe GE in order to unravel the molecular mechanism of the disease. Using CRISPR/Cas9, we knocked out the gldc gene and showed that gldc-/- fish recapitulate GE on a molecular level and present a motor phenotype reminiscent of severe GE symptoms.

A novel method for quantitation of acylglycines in human dried blood spots by UPLC-tandem mass spectrometry.

Background: Several acylcarnitines used as primary markers on dried blood filter papers (DBS) for newborn screening lack specificity and contribute to a higher false positive rate. The analysis of urine acylglycines is useful in the diagnosis of inborn errors of metabolism (IEM) including medium chain acyl-CoA dehydrogenase deficiency (MCADD), isovaleric acidemia, and beta-ketothiolase deficiency (BKTD). Currently, no method for analyzing acylglycines from DBS has been published.

Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency.

Pyridoxine-dependent epilepsy (PDE) is a rare disease characterized by mutations in the lysine degradation gene leading to recurrent neonatal seizures, which are uniquely alleviated by high doses of pyridoxine or pyridoxal 5'-phosphate (vitamin B6 vitamers). Despite treatment, neurodevelopmental disabilities are still observed in most PDE patients underlining the need for adjunct therapies. Over 60 years after the initial description of PDE, we report the first animal model for this disease: an aldh7a1-null zebrafish () displaying deficient lysine metabolism and spontaneous and recurrent seizures in the larval stage (10 days postfertilization).

Comparison of clinical and biochemical markers of dehydration with the clinical dehydration scale in children: a case comparison trial.

Background: The clinical dehydration scale (CDS) is a quick, easy-to-use tool with 4 clinical items and a score of 1-8 that serves to classify dehydration in children with gastroenteritis as no, some or moderate/severe dehydration. Studies validating the CDS (Friedman JN) with a comparison group remain elusive. We hypothesized that the CDS correlates with a wide spectrum of established markers of dehydration, making it an appropriate and easy-to-use clinical tool.

The impact of maternal weight discrepancies on prenatal screening results for Down syndrome.

Objective: This study aimed to assess the quantitative impact of maternal weight discrepancy on the screen result for Down syndrome when using Integrated Prenatal Screening and First Trimester Combined Screening.

Methods: The study population consisted of 78,165 women undergoing prenatal screening in Ontario, Canada, and 158 pregnancies affected with Down syndrome at one Ontario center. The study assessed quantitative alterations of the multiple of the median values of first and second-trimester serum markers and the risks of Down syndrome at a set of theoretical weight discrepancies.

Cystatin C adaptation in the first month of life.

Je-Hyan Lee et al. have published a study on cystatin C concentrations in the first 30 days of life in 127 pre-term and 119 term neonates in this edition of Pediatric Nephrology, thereby closing a knowledge gap of detailed cystatin C concentrations beyond 72 h of life by day of life and by post-conceptional age. While the study objective has merit and a large number of measurements were included, there are some methodological limitations that bring the validity of the data into question as pure reference intervals for children up to 1 month of age, mostly because of the inclusion of patients that potentially could have an impaired glomerular filtration rate (GFR), for instance due to exposure to nephrotoxic drugs.

Induced sputum, exhaled NO, and breath condensate in occupational medicine.

Objective: Studies of fractional exhaled NO (FeNO) or induced sputum are now well standardized and the exponential increase in publications about exhaled breath condensate reflects growing interest in a noninvasive diagnosis of pulmonary diseases in occupational medicine.

Methods: This review describes current techniques (FeNO, induced sputum, and exhaled breath condensate) for the study of inflammation and oxidative stress biomarkers.

Results: These biomarkers are FeNO, cytokines, H2O2, 8-isoprostane, malondialdehyde, and nitrogen oxides.

Standardized Procedural Practices of the Ontario Prenatal Screening Program for aneuploidies and open neural tube defects.

Background/objectives: The Ontario Prenatal Screening Program (OPSP) follows internationally recognized standardized procedures for laboratories and genetics clinics. However, it has been found that some procedures are subject to interpretation, so the current procedures are designed to facilitate a unified approach in the interpretation of literature recommendations. In Ontario, the OPSP offers multiple screening modalities with integrated prenatal screening (including both first and second trimester markers) being the most commonly chosen option.

Intraindividual variability of the modified Schwartz and novel CKiD GFR equations in pediatric renal transplant patients.

GFR in children can be obtained from a formula using SCr and height or various formulas including serum CysC. Recently, two new GFR formulas have been developed: (i) height and SCr-mSchwartz GFR and (ii) height, SCr, CysC, and serum urea (CKiD GFR). While these formulas proved to be accurate when compared to the gold standard, their use in children post-kidney Tx is yet to be assessed.

The impact of interlaboratory differences in cystatin C assay measurement on glomerular filtration rate estimation.

Background And Objectives: Cystatin C (CysC) is a promising marker of GFR. Several equations have been derived to estimate GFR from its serum concentration. Heterogeneity in the performance of these equations exists in validation studies even when the same CysC assay from the same manufacturer is utilized.

Preliminary reference intervals for cystatin C and beta-trace protein in preterm and term neonates.

Objective: To determine the reference intervals for serum cystatin C (CysC) and beta-trace protein (BTP) as markers of renal function in preterm and term neonates.

Design And Methods: Blood samples of 128 neonates (34% female) admitted to the NICU were analyzed to determine the levels of serum creatinine (enzymatically), CysC and BTP (nephelometric, Siemens Health Care).

Results: The reference intervals, categorized by age, were reported for the 128 neonates.

[Influence of occupational exposures in nonmuscle infiltration bladder cancer: preliminary results of a prospective study from October 2005 to February 2009].

Unlabelled: Bladder cancer is a common condition in industrialized countries. If tobacco is still the main risk factor in lung cancer, occupational exposures carcinogens should not be underestimated.

Goal: The significant excess of bladder cancer in the north part of France, with high manufacture concentration likely to have employees exposed to bladder carcinogens, has led us to study the influence of these exposures in the natural history of bladder cancer.

Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry.

Accumulation of glutaric acid (GA) and 3-hydroxyglutaric acid (3HGA) in body fluids is the biochemical hallmark of type 1 glutaric aciduria (GA1), a disorder characterized by acute striatal degeneration and a subsequent dystonia. To date, methods for quantification of 3HGA are mainly based on stable isotope dilution gas chromatography mass spectrometry (GC-MS) and require extensive sample preparation. Here we describe a simple liquid chromatography tandem MS (LC-MS/MS) method to quantify this important metabolite in dried urine spots (DUS).