Kidney and inferior vena cava abnormalities with leg thromboses (KILT) syndrome: A case report and literature review.

Venous thromboembolism (VTE) is now increasingly recognized within paediatrics. A Canadian VTE registry has estimated the incidence as 0.7 to 1.0 per 100,000 population, with a peak in infancy and adolescence. Congenital inferior vena cava agenesis (IVCA) is an important risk factor that may be unfamiliar to paediatricians. Several case reports have since described an association between IVCA, VTE, and renal hypoplasia, which has been referred to as KILT syndrome (Kidney and IVC abnormalities with Leg Thromboses). We describe the first reported paediatric case of KILT syndrome in Canada. In any young patient presenting with a spontaneous DVT, particularly, if it is bilateral in nature with no co-existing risk factors for thrombus formation, we recommend investigating for the possibility of an underlying congenital vena cava anomaly. The use of prolonged anticoagulant therapy is supported by the inherent life-long risk of recurrent thrombosis associated with IVC anomalies.

Aldehyde dehydrogenase 1 activity in the developing human pancreas modulates retinoic acid signalling in mediating islet differentiation and survival.

AIMS/HYPOTHESIS: Aldehyde dehydrogenase 1 (ALDH1), a human stem-cell marker, is an enzyme responsible for converting retinaldehydes to retinoic acids (RAs) to modulate cell differentiation. However, data on expression levels and functional roles of ALDH1 during human fetal pancreatic development are limited. The focus of this study was to characterise ALDH1 expression patterns and to determine its functional role in islet cell differentiation. METHODS: The presence of ALDH1 in the human fetal pancreas (8-22 weeks) was characterised by microarray, quantitative RT-PCR, western blotting and immunohistological approaches. Isolated human fetal islet-epithelial cell clusters were treated with ALDH1 inhibitors, retinoic acid receptor (RAR) agonists and ALDH1A1 small interfering (si)RNA. RESULTS: In the developing human pancreatic cells, high ALDH1 activity frequently co-localised with key stem-cell markers as well as endocrine transcription factors. A high level of ALDH1 was expressed in newly differentiated insulin(+) cells and this decreased as development progressed. Pharmacological inhibition of ALDH1 activity in human fetal islet-epithelial cell clusters resulted in reduced endocrine cell differentiation and increased cell apoptosis, and was reversed with co-treatment of RAR/RXR agonists. Furthermore, siRNA knockdown of ALDH1A1 significantly decreased RAR expression and induced cell apoptosis via suppression of the phosphoinositide 3-kinase (PI3K) pathway and activation of caspase signals. CONCLUSIONS/INTERPRETATION: Our findings indicate that ALDH1(+) cells represent a pool of endocrine precursors in the developing human pancreas and that ALDH1 activity is required during endocrine cell differentiation. Inhibition of ALDH1-mediated retinoid signalling impairs human fetal islet cell differentiation and survival.

Development of a standardized peer review and oversight process in cases of suspected child physical abuse.

Peer review of medical opinions provided in cases of suspected child physical abuse is generally considered to be best practice for pediatricians engaged in this field. However, there are no published standardized guidelines on how pediatricians should undertake physical abuse peer review including case selection and process. Due to the high-stakes nature in the field of child abuse pediatrics, rigorous quality assurance practices and oversight mechanisms are essential to safeguard children, families, health care providers, and intersecting systems. The Suspected Child Abuse and Neglect program at The Hospital for Sick Children, Toronto, Canada developed a structured peer review process for cases of suspected physical abuse. Included in the process is an approach for the evaluation of institutional complaints received related to a child abuse pediatrician's medical opinion. This quality assurance process is presented so that other child abuse pediatricians and programs may replicate or adapt the protocol for their own local context.

Fracture prevalence in children diagnosed with Ehlers-Danlos Syndrome and Generalized Joint Hypermobility.

BACKGROUND: There is limited understanding of the hypothesized association between the Ehlers-Danlos Syndromes (EDS), hypermobility and fractures in children. Despite this, EDS and hypermobility continue to be raised in the legal setting as possible causes of unexplained fractures in infants where there is a concern for physical abuse. Further understanding is needed regarding fractures in children with EDS and hypermobility. OBJECTIVE: This study assessed fracture prevalence and characteristics in children diagnosed with EDS and Generalized Joint Hypermobility (GJH). The secondary outcome was fracture prevalence in infants <1 year of age. PARTICIPANTS AND SETTING: Children aged <18 years with EDS or GJH seen in a single-center EDS clinic from April 2017 to December 2021 were included. Diagnoses were based on the 2017 international classification. Exclusion criteria were concurrent medical conditions associated with bone fragility. METHODS: This retrospective descriptive study examined variables including fracture history, fracture location, fracture type, age of sustaining fracture, and injury mechanism. Descriptive statistics were used for analysis. RESULTS: Fracture prevalence was 34.6 % (9/26, 95 % CI [16.3, 52.9]) in the EDS population and 25.4 % (15/59, 95 % CI [14.3, 36.5]) in the GJH population. No fractures occurred in infancy. Most fractures occurred in the limbs. There were no rib or skull fractures. Most fractures were the result of an identifiable injury event. CONCLUSION: In a cohort of children with formally diagnosed EDS or GJH, fractures occurred commonly in ambulatory children and generally in the limbs from identifiable events. This study does not support EDS or GJH as a cause of fractures in infancy.

Saline-Lock Versus Continuous Infusion: Maintaining Peripheral Intravenous Catheter Access in Children.

OBJECTIVES: In children, peripheral intravenous catheters (PIVs) are maintained by either a continuous infusion of fluid "to keep vein open" (TKO) or a saline lock (SL). There is a widespread perception that TKO prolongs PIV patency, but there is a lack of evidence for this. We hypothesized that there would be no significant difference in duration of PIV patency between TKO and SL. PATIENTS AND METHODS: This prospective, time-allocated study included patients from newborn to 17 years of age admitted to our pediatric ward. Patients enrolled in the first 3 months were assigned to TKO, and patients in the latter 3 months were assigned to SL. Primary outcome was duration of functional patency of the first PIV during the time of TKO or SL. Secondary outcomes included PIV-related complications and patient and caregiver satisfaction. RESULTS: Complete PIV data were available on 172 (n = 85 TKO, n = 87 SL) of 194 enrolled patients. The mean (SD) duration of PIV patency was 41.68 (41.71) hours in the TKO group and 44.05 (41.46) hours in the SL group, which was not significantly different (P = .71). There were no significant differences in complication rates or overall patient and caregiver satisfaction. One patient in the TKO group had their PIV removed because of risk of strangulation from tubing. CONCLUSION: There were no significant differences between TKO and SL in the duration of PIV patency, complication rates, and overall patient and caregiver satisfaction in our pediatric population. Overall, SL is a safe and reasonable alternative to TKO in maintaining PIV patency in children.