CYP24A1 and SLC34A1 Pathogenic Variants Are Uncommon in a Canadian Cohort of Children with Hypercalcemia or Hypercalciuria.

Objectives: Biallelic pathogenic variants in CYPA24A1 and SLC34A1 are causes of idiopathic infantile hypercalcemia. Pathogenic variants in both may also give rise to hypercalciuria with nephrocalcinosis or nephrolithiasis without previous hypercalcemia (renal group). Our objective was to examine the frequency of CYP24A1 or SLC34A1 variants in children with early hypercalcemia or late-onset hypercalciuria.

Central diabetes insipidus and pain medications - a risky combination.

Background: Central Diabetes Insipidus (CDI) results from decreased production of antidiuretic hormone (ADH) leading to an inability to concentrate urine. CDI is treated with desmopressin (DDAVP). Rarely reported in the literature, opioids and non-steroidal anti-inflammatories (NSAIDs) can induce hyponatremia in individuals treated for CDI.

Role of IP3 Receptors in Shaping the Carotid Chemoreceptor Response to Hypoxia But Not to Hypercapnia in the Rat Carotid Body: An Evidence Review.

This article addresses the disparity in the transduction pathways for hypoxic and hypercapnic stimuli in carotid body glomus cells. We investigated and reviewed the experimental evidence showing that the response to hypoxia, but not to hypercapnia, is mediated by 1,4,5-inositol triphosphate receptors (IPR/s) regulating the intracellular calcium content [Ca] in glomus cells. The rationale was based on the past observations that inhibition of oxidative phosphorylation leads to the explicit inhibition of the hypoxic chemoreflex.

Adrenal suppression from glucocorticoids: preventing an iatrogenic cause of morbidity and mortality in children.

Adrenal suppression (AS) is an important side effect of glucocorticoids (GCs) including inhaled corticosteroids (ICS). AS can often be asymptomatic or associated with non-specific symptoms until a physiological stress such as an illness precipitates an adrenal crisis. Morbidity and death associated with adrenal crisis is preventable but continues to be reported in children.

Symptomatic adrenal suppression among children in Canada.

Background: Adrenal suppression (AS) is an under-recognised side effect of glucocorticoid (GC) use. AS may go undetected until a physiological stress precipitates an adrenal crisis. The incidence of AS has not been established.

The role of morning basal serum cortisol in assessment of hypothalamic pituitary-adrenal axis.

Purpose: The use of morning basal serum cortisol levels as an alternative to dynamic testing for assessment of hypothalamic-pituitary-adrenal (HPA) axis has previously been reported. The purpose of this study was to determine the lower and upper cutoff values that would obviate subsequent HPA axis testing.

Methods: A single-centre, retrospective study from a tertiary care endocrinology clinic was conducted, analyzing data from 106 adult individuals referred for HPA axis testing who had undergone a 0800-0900 morning basal serum cortisol test followed by a standard dose (250 μg) adrenocorticotropin (ACTH) stimulation test.

Occurrence of slipped capital femoral epiphysis in children undergoing gonadotropin-releasing hormone agonist therapy for the treatment of central precocious puberty.

Background: Obesity, age and hormone imbalances including hypothyroidism and growth hormone deficiency and therapy, but not gonadotropin-releasing hormone agonist (GnRHa) therapy, have been identified as risk factors for slipped capital femoral epiphysis (SCFE). Five of 7 reported cases describe SCFE in children shortly after GnRHa therapy cessation.

Methods: We report 3 cases of SCFE that occurred in children on GnRHa therapy for the treatment of central precocious puberty (CPP) and discuss possible promoting factors.

Sequential selective same-day suture removal in the management of post-keratoplasty astigmatism.

Aims: In a previous study, we proposed that corneal topography performed 30-40 min after the initial suture removal can identify the next set of sutures requiring removal, for the treatment of post-keratoplasty astigmatism. The aim of this study was to evaluate the effect of removing subsequent sets of sutures at the same sitting.

Methods: 10/0 nylon interrupted sutures were placed, to secure the graft-host junction, at the time of keratoplasty.

Management of postkeratoplasty astigmatism by paired arcuate incisions with compression sutures.

Purpose: To analyse the efficacy of paired arcuate incisions and compression sutures technique in the management of post penetrating keratoplasty (PK) astigmatism.

Methods: A paired arcuate incision with compression sutures procedure was used to treat 26 eyes with post-PK astigmatism ranging from 6.00 to 16.

Establishment and characterization of a new human extragonadal germ cell line, SEM-1, and its comparison with TCam-2 and JKT-1.

Objective: To describe the establishment and characterization of a human cell line, SEM-1, from a patient diagnosed with a mediastinal seminoma.

Methods: A small percentage of germ cell tumors develop as primary lesions in extragonadal sites, and the etiology of these tumors is poorly understood. Currently, only 2 cell lines from seminoma patients have been reported, JKT-1 and TCam-2, both derived from the testis.

Critical behavior of a strongly interacting 2D electron system.

With decreasing density n(s) the thermopower S of a low-disorder two-dimensional electron system in silicon is found to exhibit a sharp increase by more than an order of magnitude tending to a divergence at a finite disorder-independent density n(t) consistent with the critical form (-T/S) is proportional to (n(s)-n(t))(x) with x=1.0±0.1 (T is the temperature).

Na(+)-dependent transport of taurine is found only on the abluminal membrane of the blood-brain barrier.

Luminal and abluminal plasma membranes were isolated from bovine brain microvessels and used to identify and characterize Na(+)-dependent and facilitative taurine transport. The calculated transmembrane potential was -59 mV at time 0; external Na(+) (or choline under putative zero-trans conditions) was 126 mM (T=25 °C). The apparent affinity constants of the taurine transporters were determined over a range of taurine concentrations from 0.

GLUT-1 glucose transporters in the blood-brain barrier: differential phosphorylation.

Glucose is the primary metabolic fuel for the mammalian brain, and a continuous supply is required to maintain normal CNS function. The transport of glucose across the blood-brain barrier (BBB) into the brain is mediated by the facilitative glucose transporter GLUT-1. Prior studies (Simpson et al.

Effect of counterion on the phase behaviour during lyophilization of indomethacin salt forms.

This manuscript studies the effect of counterion on the phase behaviour during lyophilization of indomethacin salts. Salt forms of indomethacin namely, sodium, potassium, rubidium and cesium were prepared in situ and analyzed by modulated differential scanning calorimetry (MDSC) for determination of the critical process parameter for lyophilization. At a cooling rate of 17°C/min, indomethacin salts separated as amorphous form on freeze concentration.

Presentation and course of diabetes in children and adolescents with Alstrom syndrome.

Alstrom syndrome is characterized by childhood obesity, progressive retinal degeneration, and sensorineural hearing loss with diabetes mellitus (DM) developing later in childhood and adulthood. The course of diabetes in children with this condition has not been described. We aim to describe the diagnosis, management, and course of diabetes in a series of children followed in our center.