A novel GK Ala469Val variant resulting in glycerol kinase deficiency with concurrent hepatoblastoma: A case report.

Glycerol kinase deficiency (GKD) is a rare X-linked condition where glycerol cannot be phosphorylated to glycerol-3-phosphate, a key component of gluconeogenesis. Clinical presentation varies widely. We present a novel variant of the responsible GK in a patient with concurrent hepatoblastoma, whose course was complicated by hypoglycemia. Hepatoblastoma has not previously been described with GKD, highlighting the need for further research into GKD and its potential role in the pathogenesis of some forms of hepatoblastoma.

A systematic review and meta analysis of measurement properties for the flexion relaxation ratio in people with and without non specific spine pain.

This review sought to identify, critically appraise, compare, and summarize the literature on the reliability, discriminative validity and responsiveness of the flexion relaxation ratio (FRR) in adults (≥ 18 years old) with or without spine pain (any duration), in either a clinical or research context. The review protocol was registered on Open Science Framework ( https://doi.org/10.17605/OSF.IO/27EDF ) and follows COSMIN, PRISMA, and PRESS guidelines. Six databases were searched from inception to June 1, 2022. The search string was developed by content experts and a health services librarian. Two pairs of reviewers independently completed titles/abstracts and full text screening for inclusion, data extraction, and risk of bias assessment (COSMIN RoB Toolkit). At all stages, discrepancies were resolved through consensus meetings. Data were pooled where possible with a three-level random effects meta-analyses and a modified GRADE assessment was used for the summary of findings. Following duplicate removal, 728 titles/abstracts and 219 full texts were screened with 23 included in this review. We found, with moderate certainty of evidence, that the cervical FRR has high test-retest reliability and lumbar FRR has moderate to high test-retest reliability, and with high certainty of evidence that the cervical and lumbar FRR can discriminate between healthy and clinical groups (standardized mean difference - 1.16 [95% CI - 2.00, - 0.32] and - 1.21 [- 1.84, - 0.58] respectively). There was not enough evidence to summarize findings for thoracic FRR discriminative validity or the standard error of measurement for the FRR. Several studies used FRR assuming responsiveness, but no studies were designed in a way that could confirm responsiveness. The evidence supports adequate reliability of FRR for the cervical and lumbar spine, and discriminative validity for the cervical and lumbar spine only. Improvements in study design and reporting are needed to strengthen the evidence base to determine the remaining measurement properties of this outcome.

An estimation of the endoscopist's musculoskeletal injury risk for right and left lateral decubitus positions during colonoscopy: a field-based ergonomic study.

BACKGROUND: Colonoscopy exposes endoscopists to awkward postures and prolonged forces, which increases their risk of musculoskeletal injury. Patient positioning has a significant impact on the ergonomics of colonoscopy. Recent trials have found the right lateral decubitus position is associated with quicker insertion, higher adenoma detection rates, and greater patient comfort compared to the left lateral decubitus position. However, this patient position is perceived as more strenuous by endoscopists. METHODS: Nineteen endoscopists were observed performing colonoscopies during a series of four-hour endoscopy clinics. Durations of each patient position (right lateral decubitus, left lateral decubitus, prone, and supine) were recorded for all observed procedures (n = 64). Endoscopist injury risk was estimated by a trained researcher for the first and last colonoscopies of the shifts (n = 34) using Rapid Upper Limb Assessment (RULA), an observational ergonomic tool that estimates risk of musculoskeletal injury by scoring postures of the upper body and factors such as muscle use, force, and load. The total RULA scores were compared with a Wilcoxon Signed-Rank test for patient position (right and left lateral decubitus) and time (first and last procedures) with significance taken at p < 0.05. Endoscopist preferences were also surveyed. RESULTS: The right lateral decubitus position was associated with significantly higher RULA scores than the left lateral decubitus position (median 5 vs. 3, p < 0.001). RULA scores were not significantly different between the first and last procedures of the shifts (median 5 vs. 5, p = 0.816). 89% of endoscopists preferred the left lateral decubitus position, primarily due to superior ergonomics and comfort. CONCLUSION: RULA scores indicate an increased risk of musculoskeletal injury in both patient positions, with greater risk in the right lateral decubitus position.

B-Cell Acute Lymphoblastic Leukemia with iAMP21 in a Patient with Constitutional Ring Chromosome 21.

Pediatric B-cell acute lymphoblastic leukemia (B-ALL) is associated with various specific cytogenetic and molecular markers that significantly influence treatment and prognosis. Intrachromosomal amplification of chromosome 21 (iAMP21) defines a rare distinct cytogenetic subgroup of childhood B-ALL, which is characterized by amplification of region 21q22.12 comprising the RUNX1 gene. Constitutional structural chromosomal abnormalities involving chromosome 21 confer an increased risk for B-ALL with iAMP21. Here, we report the development of B-ALL with iAMP21 in a 9-year-old child with a constitutional ring chromosome 21, r(21)c, uncovered after B-ALL diagnosis. Cytogenetic and microarray analysis of the post-therapy sample revealed an abnormal chromosome 21 lacking a satellite and having a deletion of the terminal 22q22.3 region, consistent with a constitutional ring chromosome 21, r(21)(p11.2q22). On a retrospective analysis, this ring chromosome was observed in the normal cells in the pre-treatment diagnostic specimen. Constitutional ring chromosome 21 may remain undetected in patients with mild or no neurodevelopmental phenotype, posing an unknown lifelong risk of developing B-ALL with iAMP21. Individuals with constitutional structural chromosome 21 rearrangements such as ring 21 require a close surveillance and long-term follow-up studies to establish their risk of B-ALL relapse and possibility of developing other malignancies. Germline analysis is recommended to all pediatric patients with iAMP21-related B-ALL to rule out structural chromosome 21 rearrangements and to elucidate molecular mechanisms of iAMP21 formation.

An investigation of the flexion relaxation ratio in adults with and without a history of self-reported low back pain and transient sitting-induced pain.

It is unknown whether the presence of sitting-induced pain or a clinical history of low back pain (LBP) changes spine function outcomes such as the flexion relaxation ratio (FRR). The purpose of this investigation was to determine whether sitting-induced pain or a history of non-specific LBP results in a different FRR. Forty-seven participants were instrumented with surface electromyography over erector spinae at L1, and accelerometers at L1 and S2. Standing maximum lumbar flexion trials were taken preceding and following a 1-hour sitting trial. Pain ratings during sitting and history of LBP were used to group participants for analysis. FRR values taken after the sitting exposures were compared between those that did and did not develop pain during sitting. Baseline FRR values were compared participants with and without a history of LBP. No significant differences in FRR were found for either pain groups (p = 0.11) or clinical history (p = 0.85). Lack of differences may be due to participants not currently experiencing a clinical episode of pain when the ratio was measured and/or because 1-hour sitting exposure was not long enough to induce pain modulation. The findings suggest that neither sitting-induced pain development or clinical history need to be controlled to prevent confounding of FRR.

Putting research in place: an innovative approach to providing contextualized evidence synthesis for decision makers.

BACKGROUND: The Contextualized Health Research Synthesis Program (CHRSP), developed in 2007 by the Newfoundland and Labrador Centre for Applied Health Research, produces contextualized knowledge syntheses for health-system decision makers. The program provides timely, relevant, and easy-to-understand scientific evidence; optimizes evidence uptake; and, most importantly, attunes research questions and evidence to the specific context in which knowledge users must apply the findings. METHODS: As an integrated knowledge translation (KT) method, CHRSP: Involves intensive partnerships with senior healthcare decision makers who propose priority research topics and participate on research teams; Considers local context both in framing the research question and in reporting the findings; Makes economical use of resources by utilizing a limited number of staff; Uses a combination of external and local experts; and Works quickly by synthesizing high-level systematic review evidence rather than primary studies. Although it was developed in the Canadian province of Newfoundland and Labrador, the CHRSP methodology is adaptable to a variety of settings with distinctive features, such as those in rural, remote, and small-town locations. RESULTS: CHRSP has published 25 syntheses on priority topics chosen by the provincial healthcare system, including: Clinical and cost-effectiveness: telehealth, rural renal dialysis, point-of-care testing; Community-based health services: helping seniors age in place, supporting seniors with dementia, residential treatment centers for at-risk youth; Healthcare organization/service delivery: reducing acute-care length of stay, promoting flu vaccination among health workers, safe patient handling, age-friendly acute care; and Health promotion: diabetes prevention, promoting healthy dietary habits. These studies have been used by decision makers to inform local policy and practice decisions. CONCLUSIONS: By asking the health system to identify its own priorities and to participate directly in the research process, CHRSP fully integrates KT among researchers and knowledge users in healthcare in Newfoundland and Labrador. This high level of decision-maker buy-in has resulted in a corresponding level of uptake. CHRSP studies have directly informed a number of policy and practice directions, including the design of youth residential treatment centers, a provincial policy on single-use medical devices, and most recently, the opening of the province's first Acute Care for the Elderly hospital unit.