Orthopaedic Manifestations in Hypermobile Ehlers-Danlos Syndrome.

Background: Hypermobile Ehlers-Danlos syndrome (hEDS) is a collagen disorder affecting multiple organ systems, including the musculoskeletal system. We sought to determine the type and severity of orthopaedic manifestations experienced by these patients. The purpose of this study was to identify the most common orthopaedic manifestations in patients with hEDS and to examine the patient-reported helpfulness of treatments.

Evaluation of the Elbow in Throwing Athletes.

Background: Elbow injuries are becoming increasingly prevalent in throwing athletes. Early diagnosis, especially in athletes, can allow for earlier intervention and return to play. It is important for clinicians to have a framework to systemically examine the elbow to accurately diagnose a variety of elbow pathologies in this unique patient population.

Safety, Pharmacokinetics, and Pharmacodynamics of the New Aldose Reductase Inhibitor Govorestat (AT-007) After a Single and Multiple Doses in Participants in a Phase 1/2 Study.

In classic galactosemia (CG) patients, aldose reductase (AR) converts galactose to galactitol. In a phase 1/2, placebo-controlled study (NCT04117711), safety, pharmacokinetics (PK), and pharmacodynamics (PD) of govorestat were evaluated after single and multiple ascending doses (0.5-40 mg/kg) in healthy adults (n = 81) and CG patients (n = 14).

Quadriceps tendon autograft has similar clinical outcomes when compared to hamstring tendon and bone-patellar tendon-bone autografts for revision ACL reconstruction: a systematic review and meta-analysis.

Purpose: Research regarding revision anterior cruciate ligament reconstruction (RACLR) with quadriceps tendon (QT) autografts is lacking. The purpose of this study was to perform a systematic review and meta-analysis of RACLR with QT and compare its patient outcomes to RACLR with hamstring tendon (HT) and bone-patellar tendon-bone (BTB) autografts.

Methods: Adhering to PRISMA guidelines, a search for studies using QT in RACLR was performed within PubMed, Scopus, and CINAHL from database date of inception through December 26, 2022.

Understanding the patient experience of Classic Galactosemia in pediatric and adult patients: increased disease burden, challenges with daily living, and how they evolve over time.

Background: Classic Galactosemia (CG) is a rare, autosomal recessive condition. Newborn screening and a timely galactose-restricted diet can resolve acute symptoms and decrease fatalities, but significant chronic, progressive morbidities remain and significantly impact daily life. The objective of this study was to better understand the burden of disease in children and adults with CGs and describe how morbidities evolve over time.

Non-uniform temporal scaling of developmental processes in the mammalian cortex.

The time that it takes the brain to develop is highly variable across animals. Although staging systems equate major developmental milestones between mammalian species, it remains unclear how distinct processes of cortical development scale within these timeframes. Here, we compare the timing of cortical development in two mammals of similar size but different developmental pace: eutherian mice and marsupial fat-tailed dunnarts.

Clade-specific forebrain cytoarchitectures of the extinct Tasmanian tiger.

The thylacine, or Tasmanian tiger, is the largest of modern-day carnivorous marsupials and was hunted to extinction by European settlers in Australia. Its physical resemblance to eutherian wolves is a striking example of evolutionary convergence to similar ecological niches. However, whether the neuroanatomical organization of the thylacine brain resembles that of canids and how it compares with other mammals remain unknown due to the scarcity of available samples.

Qualitative interviews with adults with Classic Galactosemia and their caregivers: disease burden and challenges with daily living.

Background: Classic Galactosemia is a rare, autosomal recessive disease in which galactose is not metabolized properly due to severe deficiency/absence of the galactose-1-phosphate uridylyltransferase (GALT) enzyme, converting to an aberrant and toxic metabolite, galactitol. Newborn screening and timely galactose-restricted diet can resolve acute symptoms and decrease fatalities. However, despite this, significant chronic, progressive morbidities remain which have a real impact upon daily life.

Surgical Management of Proximal Fifth Metatarsal Fractures in Elite Athletes: A Systematic Review.

Background: As a result of the high physical demand in sport, elite athletes are particularly prone to fifth metatarsal fractures. These injuries are typically managed surgically to avoid high rates of delayed union and allow for quicker return to play (RTP).

Purpose: To review studies showing clinical and radiographic outcomes, RTP rates, and complication rates after different surgical treatment modalities for fifth metatarsal fractures exclusively in elite-level athletes.

COVID-19 modifications of offseason and preseason training for NFL athletes are associated with increased risk of regular season injuries.

Objectives: COVID-19 altered National Football League (NFL) player and team training during the 2020 offseason. All preseason games were cancelled resulting in absence of game play before the first week of the regular season. Thus, concerns exist regarding injury susceptibility of players during regular season games.

Disease burden in people with cystic fibrosis heterozygous for F508del and a minimal function mutation.

Background: People with cystic fibrosis (CF) heterozygous for F508del-CFTR and a minimal function CFTR mutation (F/MF) that results in no CFTR protein or results in CFTR protein that is not responsive to tezacaftor, ivacaftor, and tezacaftor/ivacaftor in vitro comprise a sizeable percentage of the US CF population. This retrospective, cross-sectional, observational study aimed to characterize CF burden in this subpopulation.

Methods: People ≥2 years of age in the US CF Foundation Patient Registry with a CF diagnosis, F/MF genotype, and ≥1 encounters in 2017 were included.

Combining Multiplex Fluorescence in situ Hybridization with Fluorescent Immunohistochemistry on Fresh Frozen or Fixed Mouse Brain Sections.

Fluorescent in situ hybridization (FISH) is a molecular technique that identifies the presence and spatial distribution of specific RNA transcripts within cells. Neurochemical phenotyping of functionally identified neurons usually requires concurrent labelling with multiple antibodies (targeting protein) using immunohistochemistry (IHC) and optimization of in situ hybridization (targeting RNA), in tandem. A "neurochemical signature" to characterize particular neurons may be achieved however complicating factors include the need to verify FISH and IHC targets before combining the methods, and the limited number of RNAs and proteins that may be targeted simultaneously within the same tissue section.

A Standardized Order-Set Improves Variability in Opioid Discharge Prescribing Patterns After Surgical Fixation of Pediatric Supracondylar Humerus Fractures.

Objective: To evaluate institutional opioid prescribing patterns following percutaneous fixation of pediatric supracondylar humerus fractures before and after implementation of a standardized discharge order set.

Design: A retrospective review of patients who underwent closed reduction and percutaneous skeletal fixation of a Type II or III supracondylar humerus fracture in 2017 (prior to pain protocol implementation) and again in 2019 (after pain protocol implementation) SETTING: Single Tertiary Care Children's Hospital PARTICIPANTS: In total, 106 patients met inclusion criteria between years 2017 (n = 49) and 2019 (n = 57). Exclusion criteria included miscoded patients, open fractures, patients who presented with vascular injury or nerve palsy, polytrauma patients with multiple fractures in the same upper extremity, and supracondylar humerus fractures that underwent an open procedure.

Analysis of Mechanically Activated Ion Channels at the Cell-Substrate Interface: Combining Pillar Arrays and Whole-Cell Patch-Clamp.

Ionic currents can be evoked by mechanical inputs applied directly at the cell-substrate interface. These ionic currents are mediated by mechanically activated ion channels, where the open probability increases with increasing mechanical input. In order to study mechanically activated ion channels directly at the interface between cells and their environment, we have developed a technique to simultaneously monitor ion channel activity whilst stimuli are applied via displacement of cell-substrate contacts.

Pediatric Obstructive Sleep Apnea in High-Risk Populations: Clinical Implications.

Certain common medical conditions are associated with a higher risk of pediatric obstructive sleep apnea (OSA). A lower threshold for screening is therefore indicated for such patient cohorts. In this article, we briefly discuss the high prevalence of OSA in children born prematurely, and in those with Down syndrome, craniofacial disorders, and neuromuscular disorders.

Pediatric Obstructive Sleep Apnea and Asthma: Clinical Implications.

Obstructive sleep apnea (OSA) and asthma are common conditions in children with preventable long-term consequences. There is significant overlap in symptomatology and pathophysiology for pediatric OSA and asthma. Recent evidence supports clear associations between the two diseases; however, causality has not been demonstrated.

Pulmonary Vasculopathy Associated with FIGF Gene Mutation.

Vascular endothelial growth factor (VEGF)-D is capable of inducing angiogenesis and lymphangiogenesis through signaling via VEGF receptor (VEGFR)-2 and VEGFR-3, respectively. Mutations in the FIGF (c-fos-induced growth factor) gene encoding VEGF-D have not been reported previously. We describe a young male with a hemizygous mutation in the X-chromosome gene FIGF (c.

An update on childhood urticaria and angioedema.

Purpose Of Review: The present review serves to address urticaria - both acute and chronic - as well as the differential diagnosis of urticarial syndromes in the pediatric population. We also wish to update the reader on progress in the pathophysiology, diagnosis and treatment of urticaria.

Recent Findings: Acute and chronic urticaria represent syndromes caused by a variety of triggers.

Integrating medical and psychological health care for children with atopic dermatitis.

Objective: To present descriptive data from a hospital-based interdisciplinary program that provides integrated medical and psychological health-care for children with atopic dermatitis (AD).

Methods: Clinical records were reviewed for 69 children seen in our program to examine parent-reported AD-related presenting concerns, as well as common problems and interventions addressed during family visits with the program psychologist.

Results: The most common presenting concerns included child itching and scratching and associated sleep problems.

Development of a preliminary questionnaire to assess parental response to children's food allergies.

Background: Food allergy affects up to 8% of children. Unintentional exposure may result in minor to potentially fatal episodes. Management of allergies depends on strict allergen avoidance and emergency preparedness.