Identification of Altered Primary Immunodeficiency-Associated Genes and Their Implications in Pediatric Cancers.

Background: Cancer is the leading cause of disease-related mortality in children and malignancies are more frequently observed in individuals with primary immunodeficiencies (PIDs). This study aimed to identify and highlight the molecular mechanisms, such as oncogenesis and immune evasion, by which PID-related genes may lead to the development of pediatric cancers.

Method: We implemented a novel bioinformatics framework using patient data from the TARGET database and performed a comparative transcriptome analysis of PID-related genes in pediatric cancers between normal and cancer tissues, gene ontology enrichment, and protein-protein interaction analyses, and determined the prognostic impacts of commonly mutated and differentially expressed PID-related genes.

A vaping risks education program for school students: Evaluation of the solve mystery toolkit.

One in three grade 7 to 12 students in Canada report trying vaping or e-cigarettes. Despite consequences like nicotine addiction, impaired brain development, increased respiratory symptoms, and association with an increased risk of COVID-19 diagnosis, 48% of youth believe occasional vaping has little to no risk. There is a clear need for youth to learn about vaping consequences.

Mobile technology and healthcare: the adoption issues and systemic problems.

Although the benefits that are associated with mobile technology have been recognised as offering great potential in the healthcare sector, its widespread adoption has been lagging. We propose that fundamental systemic issues are likely to be the main barriers to adoption. We explain that the fragmented nature of the conservative healthcare system, the contradictory incentives and improper outcome measures conspire to make the innovative adoption of mobile technology problematic.

Three-stage contingent screening for Down syndrome.

Objective: To demonstrate the potential value of three-stage sequential screening for Down syndrome.

Methods: Protocols were considered in which maternal serum pregnancy associated plasma protein-A (PAPP-A) and free beta-human chorionic gonadotropin (hCG) measurements were taken on all women in the first trimester. Those women with very low Down syndrome risks were screened negative at that stage and nuchal translucency (NT) was measured on the remainder and the risk reassessed.

Evaluation of Cystatin C as a marker of renal injury following on-pump and off-pump coronary surgery.

Objective: Cardiopulmonary bypass is regarded as an important contributor to renal injury, whereas off-pump surgery is considered less damaging. Cystatin C, a cystine protease inhibitor, is more sensitive and specific than creatinine in the assessment of renal function. We assessed the value of Cystatin C in quantifying clinical and subclinical renal injury following on-pump and off-pump cardiac surgery.

Age-standardisation when target setting and auditing performance of Down syndrome screening programmes.

Objective: To describe and illustrate a method of setting Down syndrome screening targets and auditing performance that allows for differences in the maternal age distribution.

Methods: A reference population was determined from a Gaussian model of maternal age. Target detection and false-positive rates were determined by standard statistical modelling techniques, except that the reference population rather than an observed population was used.

Outcome of tyrosinaemia type III.

Tyrosinaemia type III is a rare disorder caused by a deficiency of 4-hydroxyphenylpyruvate dioxygenase, the second enzyme in the catabolic pathway of tyrosine. The majority of the nine previously reported patients have presented with neurological symptoms after the neonatal period, while others detected by neonatal screening have been asymptomatic. All have had normal liver and renal function and none has skin or eye abnormalities.

Features of carnitine palmitoyltransferase type I deficiency.

Carnitine palmitoyltransferase type I (CPT I) is unique among long-chain fatty acid oxidation enzymes in that there are two tissue-specific isoforms, 'hepatic' and 'muscle', which are encoded by two separate genes. The 'hepatic' isoform is expressed in liver, kidney and fibroblasts and at low levels in the heart, while the other isoform occurs in skeletal muscle and is the predominant form in heart. Reported patients with CPT I deficiency lack activity of the hepatic isoform and present before 30 months of age with hypoketotic hypoglycaemia, hepatomegaly with raised transaminases, seizures and coma.

Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III.

Tyrosinemia type III (OMIM 276710) is an autosomal recessive disorder caused by the deficiency of 4-hydroxyphenylpyruvate dioxygenase (HPD), the second enzyme in the tyrosine catabolic pathway. The enzyme deficiency results in an accumulation and increased excretion of tyrosine and phenolic metabolites. Only a few cases with the disorder have been described, and the clinical spectrum of the disorder is unknown.

Serum S100B and hypothermic circulatory arrest in adults.

Background: Cerebral injury is the most important complication of cardiac operations with cardiopulmonary bypass. Prolonged total circulatory arrest (TCA) can expose patients to an even greater risk of cerebral injury. We sought to detect the degree of cerebral injury in adults who had thoracic aortic operations with TCA by measuring S100B protein, which is released into the circulation after cerebral injury.

Late presentation of biotinidase deficiency with acute visual loss and gait disturbance.

An unusual presentation of biotinidase deficiency is described. The disorder classically presents in infancy or early childhood with intractable seizures, hypotonia, ataxia, hearing loss, dermatitis, and alopecia. A 5-year-old girl developed acute visual loss associated with optic atrophy, and disturbance of gait with predominantly lower-limb pyramidal signs.

Serum S-100 protein concentration after cardiac surgery: a randomized trial of arterial line filtration.

Introduction: Embolization of gaseous and particulate matter is incriminated in the neuropsychological morbidity of CPB and can be reduced by membrane oxygenators and arterial line filtration. It is not known if the use of arterial line filtration in conjunction with membrane oxygenators might have an additive effect in reducing cerebral injury.

Methods: Forty patients undergoing elective coronary artery surgery were prospectively randomized to a 43 microns heparin coated arterial line filter (Cobe Sentry) or to no filtration (control group).

Comparison of serum S-100 beta levels during CABG and intracardiac operations.

Background: The risk of overt and subtle cerebral injury may be higher in intracardiac operation (ICO) rather than coronary artery bypass grafting (CABG). S-100 protein is a specific astroglial protein whose serum level increases after cerebral injury. Elevated serum levels of S-100 have been detected after adult cardiac operations and correlated with neurologic injury.

Oral phosphate supplements reverse skeletal muscle abnormalities in a case of chronic fatigue with idiopathic renal hypophosphatemia.

A 57-yr-old man presented with a long history of undiagnosed fatigue but no evidence of bone disease. He was noted to have hypophosphatemia due to an idiopathic phosphaturia. Marked abnormalities of exercising skeletal muscle detected by phosphorus magnetic resonance spectroscopy and by plasma metabolite measurements were consistent with mitochondrial dysfunction.

Glycated haemoglobin: an assessment of high capacity liquid chromatographic and immunoassay methods.

We have assessed five high-throughput systems for the measurement of glycated haemoglobin and have reviewed published evaluations of individual analysers. All systems offered better precision than a widely used electroendosmosis method. The low pressure chromatography and immunoassay systems demonstrated greater between-batch imprecision than the high performance liquid chromatography analysers, the latter achieving the proposed analytical goal of between-batch coefficients of variation less than 5%.

Maternal alpha-fetoprotein screening: two years' experience in a low-risk district.

Over a two-year period, 3479 pregnant women in the Kings' Lynn Health District were screened for neural tube defects by estimation of maternal serum alpha-fetoprotein. Most pregnancies were scanned by sonar for fetal maturity. Eight women had fetuses with open neural tube defects; four with anencephaly were associated with very high alpha-fetoprotein values.