When Is a Clay-Shoveler's Fracture, Not a Clay-Shoveler's Fracture?: A Case Report.

Case: A 71-year-old man with a history of C5-7 anterior cervical discectomy and fusion (ACDF) sustained a C7 spinous process fracture after falling from a ladder. He was initially managed nonoperatively but developed anterolisthesis and kyphosis at C7-T1 with left hand weakness over the course of 11 days. Surgical treatment included spinous process wiring and C5-T3 posterior fusion.

Sensitivity of transferrin isoform analysis for PMM2-CDG.

Transferrin isoform analysis is an established laboratory test for congenital disorders of glycosylation (CDG). Despite its long history of clinical use, little has been published about its empirical sensitivity for specific conditions. We conducted a retrospective analysis of ten years of testing data and report our experience with transferrin testing for type I profiles and its sensitivity for the most common congenital disorder of glycosylation, PMM2-CDG.

Development of a Multiplexed Sphingolipids Method for Diagnosis of Inborn Errors of Ceramide Metabolism.

Background: Sphingolipids play a crucial role in cellular functions and are essential components of cell membranes, signaling molecules, and lipid metabolism. In particular, ceramide is a key intermediate in sphingolipid metabolism and defects in ceramide metabolism can lead to various inborn errors of metabolism, making ceramides important targets for clinical screening and diagnosis. Detecting altered concentration patterns of sphingolipids is desirable for distinguishing related inborn errors of metabolism for diagnosis and treatment monitoring.

A multiplexed targeted method for profiling of serum gangliosides and glycosphingolipids: application to GM2-gangliosidosis.

The analysis of gangliosides and glycosphingolipids is crucial for understanding cellular membrane structure and function as well as to accurately diagnose certain inborn errors of metabolism. GM2-gangliosidosis represents a rare and fatal group of lysosomal storage disorders characterized by accumulation of GM2 gangliosides in various tissues and organs. These disorders arise due to deficiency or functional impairment of the β-hexosaminidase A or B enzymes, which are responsible for degradation of GM2 ganglioside.

Pre-analytic decrease of phenylalanine in plasma of patients with phenylketonuria treated with pegvaliase.

Treatment of phenylketonuria (PKU) has evolved since the initial introduction of a phenylalanine (Phe) restricted diet. The most recent option for adults affected with PKU is treatment with an alternate enzyme, phenylalanine ammonia lyase (PAL), that metabolizes excess Phe. Proper management of all patients with PKU relies on accurate measurement of Phe levels in blood, to comply with guidance intended to minimize the neurological symptoms.

SLC6A8 creatine transporter deficiency can be detected by plasma creatine and creatinine concentrations.

Creatine transporter deficiency has been described with normal or uninformative levels of creatine and creatinine in plasma, while urine has been the preferred specimen type for biochemical diagnosis. We report a cohort of untreated patients with creatine transporter deficiency and abnormal plasma creatine panel results, characterized mainly by markedly decreased plasma creatinine. We conclude that plasma should be considered a viable specimen type for the biochemical diagnosis of this disorder, and abnormal results should be followed up with further confirmatory testing.

Older Age, Male Sex, and Early Start Time Lengthen the Recovery Room Stay Following Total Joint Arthroplasty in an Ambulatory Surgical Center.

Background: Total joint arthroplasty (TJA) performed in the ambulatory surgical center (ASC) has been shown to be safe and cost-effective for an expanding cohort of patients. As criteria for TJA in the ASC become less restrictive, data guiding the efficient use of ASC resources are crucial.

Purpose: We sought to identify factors associated with length of stay in the recovery room after primary total hip arthroplasty (THA) and total knee arthroplasty (TKA) performed in the ASC.

Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions.

Purpose: In the absence of prospective data on neurological symptoms, disease outcome, or guidelines for system specific management in phosphomannomutase 2-congenital disorders of glycosylation (PMM2-CDG), we aimed to collect and review natural history data.

Methods: Fifty-one molecularly confirmed individuals with PMM2-CDG enrolled in the Frontiers of Congenital Disorders of Glycosylation natural history study were reviewed. In addition, we prospectively reviewed a smaller cohort of these individuals with PMM2-CDG on off-label acetazolamide treatment.

PIGO-CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerations.

The phosphatidylinositol glycan anchor biosynthesis class O protein (PIGO) enzyme is an important step in the biosynthesis of glycosylphosphatidylinositol (GPI), which is essential for the membrane anchoring of several proteins. Bi-allelic pathogenic variants in lead to a congenital disorder of glycosylation (CDG) characterized by global developmental delay, an increase in serum alkaline phosphatase levels, congenital anomalies including anorectal, genitourinary, and limb malformations in most patients; this phenotype has been alternately called "Mabry syndrome" or "hyperphosphatasia with impaired intellectual development syndrome 2." We report a 22-month-old female with PIGO deficiency caused by novel variants.

The Effect of Preoperative Exposure to Benzodiazepines on Opioid Consumption After One and Two-level Anterior Cervical Discectomy and Fusion.

Study Design: Retrospective cohort.

Objective: Investigate the relationship between preoperative benzodiazepine exposure and postoperative opioid use in patients undergoing primary 1 or 2-level anterior cervical discectomy and fusion (ACDF).

Background: Little is known about the effect of preoperative benzodiazepine exposure on postoperative opioid use in spine surgery.

Tracer metabolomics reveals the role of aldose reductase in glycosylation.

Abnormal polyol metabolism is predominantly associated with diabetes, where excess glucose is converted to sorbitol by aldose reductase (AR). Recently, abnormal polyol metabolism has been implicated in phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG) and an AR inhibitor, epalrestat, proposed as a potential therapy. Considering that the PMM2 enzyme is not directly involved in polyol metabolism, the increased polyol production and epalrestat's therapeutic mechanism in PMM2-CDG remained elusive.

The Complication of a Retained Broken Distal Interlocking Screw Within a Cephalomedullary Nail During Conversion Hip Arthroplasty: A Case Report.

In patients who undergo femoral fracture fixation with a cephalomedullary nail, the breakage of one or more of the distal interlocking screws is a well-described phenomenon. The presence of a broken interlocking screw in patients who require the removal of their cephalomedullary nail presents a unique challenge. The broken interlocking screw may be retrieved, or the screw may be retained if it is not engaged within the nail and the nail can safely be removed while leaving the broken screw fragment behind.

Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association.

ATP6AP1-CDG is an X-linked disorder typically characterized by hepatopathy, immunodeficiency, and an abnormal type II transferrin glycosylation pattern. Here, we present 11 new patients and clinical updates with biochemical characterization on one previously reported patient. We also document intrafamilial phenotypic variability and atypical presentations, expanding the symptomatology of ATP6AP1-CDG to include dystonia, hepatocellular carcinoma, and lysosomal abnormalities on hepatic histology.

Predicting Hepatic Clearance of Psychotropic Drugs in Isolated Perfused Fish Livers Using a Combination of Two Assays.

biotransformation assays with primary trout hepatocytes (RT-HEP) or liver subcellular fractions (RT-S9) have been proposed as valuable tools to help scientists and regulators better understand the toxicokinetics of chemicals. While both assays have been applied successfully to a diversity of neutral organic chemicals, only the RT-S9 assay has been applied to a large number of ionizable organic chemicals. Here, a combination of an biotransformation assay with RT-HEP with an active transport assay based on the permanent rainbow trout liver cell line RTL-W1 was used to qualitatively predict the potential hepatic clearance of nine psychotropic drugs with various degrees of ionization.

Utilizing augmented artificial intelligence for aminoacidopathies using collaborative laboratory integrated reporting- A cross-sectional study.

Introduction: Plasma amino acids profiling can aid in the screening and diagnosis of aminoacidopathies. The goal of the current study was to analyze and report the metabolic profiles of plasma amino acid (PAA) and additionally to compare PAA-reference intervals (RI) from Pakistan with more countries utilizing Clinical Laboratory Integrated Reports (CLIR).

Methods: This was a cross sectional prospective single center study.

Scalable detection of technically challenging variants through modified next-generation sequencing.

Background: Some clinically important genetic variants are not easily evaluated with next-generation sequencing (NGS) methods due to technical challenges arising from high- similarity copies (e.g., PMS2, SMN1/SMN2, GBA1, HBA1/HBA2, CYP21A2), repetitive short sequences (e.

Validation of Methods for - Extrapolation Using Hepatic Clearance Measurements in Isolated Perfused Fish Livers.

biotransformation assays using hepatocytes or liver subcellular fractions, combined with extrapolation (IVIVE) models, have been proposed as an alternative to live fish bioconcentration studies. The uncertainty associated with IVIVE approaches to date has been attributed to assay protocols, model assumptions, or variability of data. An isolated perfused trout liver model that measures hepatic clearance has been proposed for validating IVIVE predictions in the absence of other confounding factors.

The effect of long-term opioid use on back-specific disability and health-related quality of life in patients with chronic low back pain.

Context: Opioids are commonly utilized for the treatment of chronic pain. However, research regarding the long-term (≥12 months) outcomes of opioid therapy remains sparse.

Objectives: This study aims to evaluate the effects of long-term opioid therapy on measures of back-specific disability and health-related quality of life in patients with chronic low back pain.

A Decade's Experience in Pediatric Chromosomal Microarray Reveals Distinct Characteristics Across Ordering Specialties.

Chromosomal microarray (CMA) is a testing modality frequently used in pediatric patients; however, published data on its utilization are limited to the genetic setting. We performed a database search for all CMA testing performed from 2010 to 2020, and delineated the diagnostic yield based on patient characteristics, including sex, age, clinical specialty of providers, indication of testing, and pathogenic finding. The indications for testing were further categorized into Human Phenotype Ontology categories for analysis.

Medial Clavicle Fracture Fixation Including the Sternum: A Case Report.

Case: A 29-year-old man presented with a displaced medial clavicle fracture. Surgical repair was performed using a precontoured plate designed for the contralateral distal clavicle, and medial fixation was accomplished at the sternum. The patient had no complications and demonstrated full strength and range of motion at the 8-month follow-up.