Acid sphingomyelinase deficiency and Gaucher disease: Underdiagnosed and often treatable causes of hepatomegaly, splenomegaly, and low HDL cholesterol in lean individuals.

Background: Acid sphingomyelinase deficiency (ASMD) and Gaucher disease type 1 (GD1) are rare inherited sphingolipid disorders with multisystemic manifestations, including liver disease and dyslipidemia. Despite effective treatments, insufficient disease awareness frequently results in diagnostic delays during which irreversible complications occur. We delineated the shared and distinctive features of hepatic, splenic, and lipoprotein phenotypes in ASMD and GD1.

Sustained growth-promoting effects of vosoritide in children with achondroplasia from an ongoing phase 3 extension study.

Background: Vosoritide is a C-type natriuretic peptide analog that addresses an underlying pathway causing reduced bone growth in achondroplasia. Understanding the vosoritide treatment effect requires evaluation over an extended duration and comparison with outcomes in untreated children.

Methods: After completing ≥6 months of a baseline observational growth study and 52 weeks in a double-blind, placebo-controlled study (ClinicalTrials.

Preventative treatment of tuberous sclerosis complex with sirolimus: Phase I safety and efficacy results.

Objective: Tuberous sclerosis complex (TSC) results from overactivity of the mechanistic target of rapamycin (mTOR). Sirolimus and everolimus are mTOR inhibitors that treat most facets of TSC but are understudied in infants. We sought to understand the safety and potential efficacy of preventative sirolimus in infants with TSC.

Distal biceps tendon injuries treatment: A survey of orthopaedic surgeons' current practice and preferences.

Purpose: Distal biceps tendon (DBT) injuries are relatively uncommon. Controversies exist regarding the best approach, leading to variations in treatment. This study aims to understand the preferences and practices of orthopedic surgeons regarding management of DBT injuries, as well as assess the feasibility of a future pilot randomized controlled trial (RCT) to evaluate the impact of various surgical factors on patient outcomes.

Collection of Multiple Patient-Reported Outcome Measures (CRAM-PROMs) in orthopaedic trauma: a randomized trial to assess the impact of quantity on quality.

Background: We rely on sound clinical research to ensure the safety and effectiveness of medical interventions. We are nowadays experiencing an increased utilization of Patient Reported Outcome Measures (PROMs) in research, for which there is good evidence on validity and reliability. However, these measures are often validated in isolation and not in a real-life setting where they are used in conjunction with other questionnaires and measures.

Reflection Measurement of the Scattering Mean Free Path at the Onset of Multiple Scattering.

Multiple scattering of waves presents challenges for imaging complex media but offers potential for their characterization. Its onset is actually governed by the scattering mean free path ℓ_{s} that provides crucial information on the medium microarchitecture. Here, we introduce a reflection matrix method designed to estimate this parameter from the time decay of the single scattering rate.

Outcomes of patients undergoing anatomical total shoulder arthroplasty with augmented glenoid components - a systematic review.

Background: Glenoid loosening is an issue in anatomic total shoulder arthroplasty (a-TSA). This has been attributed to abnormal glenoid anatomy, common among these patients. Different alternatives have been proposed to tackle glenoid bone loss and restore joint alignment with augmented glenoid implants being increasingly used to deal with this problem.

Tagraxofusp in combination with pomalidomide and dexamethasone in relapsed and/or refractory multiple myeloma shows encouraging preliminary efficacy with a manageable safety profile.

Not available.

Artificial Intelligence Analysis of Periorbital Rejuvenation.

Background: Periorbital rejuvenation surgery aims to restore a youthful appearance to the face. Despite the popularity of these procedures, few objective measurements exist to evaluate their impact on perceived facial aging.

Objectives: In this study we aimed to quantify the impact of brow lift and blepharoplasty on age as perceived by convolutional neural network (CNN) algorithms.

Further Delineation of the Proximal 16p11.2 Microdeletion Syndrome: Novel Findings Among 22 New Individuals.

The recurrent chromosome 16p11.2 BP4-BP5 microdeletion (MIM #611913) predisposes to a neurodevelopmental disorder with variable associated congenital anomalies and susceptibility to early-onset obesity. We identified 22 new individuals with proximal 16p11.

Complete Blood Count Values Over Time in Young Children During the Dengue Virus Epidemic in the Dominican Republic From 2018 to 2020.

Dengue fever (DF) is a mosquito-borne illness with substantial economic and societal impact. Understanding laboratory trends of hospitalized Dominican Republic (DR) pediatric patients could help develop screening procedures in low-resourced settings. We sought to describe laboratory findings over time in DR children with DF and DF severity from 2018 to 2020.

Presentation of ichthyosis after substrate reduction therapy in Gaucher type 1.

We describe a case in which a type 1 Gaucher patient developed ichthyosis weeks after starting substrate reduction therapy (SRT) with eliglustat. There are no reports of ichthyosis in the literature in enzyme replacement or SRT for Gaucher disease. Ichthyosis is seen with type 2 and 3 Gaucher disease, but not type 1.

Clinical and functional studies of MTOR variants in Smith-Kingsmore syndrome reveal deficits of circadian rhythm and sleep-wake behavior.

Heterozygous de novo or inherited gain-of-function mutations in the MTOR gene cause Smith-Kingsmore syndrome (SKS). SKS is a rare autosomal dominant condition, and individuals with SKS display macrocephaly/megalencephaly, developmental delay, intellectual disability, and seizures. A few dozen individuals are reported in the literature.

Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome.

Neurofibromatosis type 1 (NF-1) microdeletion syndrome accounts for 5 to 11% of individuals with NF-1. The aim of our study was to characterize a large cohort of individuals with NF-1 microdeletion syndrome and expand its natural history. We conducted a retrospective chart review from 1994 to 2024 of individuals with NF-1 microdeletion syndrome followed at two large Neurofibromatosis Clinics.

Clinical Outcomes and Management Strategies for Capitellum and Trochlea Fractures: A Systematic Review.

Purpose: Capitellum and trochlea fractures, also referred to as coronal shear fractures of the distal humerus, are infrequent yet challenging intra-articular fractures of the elbow. There are a variety of surgical approaches and fixation methods with often variable outcomes. This systematic review investigates interventions, outcomes and complications of capitellum and trochlea fractures.

Spontaneous pneumomediastinum and surgical emphysema presenting as rhinolalia following ecstasy ingestion: a case report.

Background: We present a unique case of rhinolalia as the first recognizable sign of spontaneous pneumomediastinum and surgical emphysema following drug use.

Case Presentation: This case presents a 17-year-old white male experiencing rhinolalia following ecstasy ingestion at a rave. Subsequent chest X-ray revealed extensive surgical emphysema, along with a continuous diaphragm sign indicative of pneumomediastinum.

Aminotransferase trends in propionic acidemia.

Propionic acidemia is a metabolic condition with multiple serious acute and chronic presentations that require strict monitoring. Literature on liver function abnormalities in propionic acidemia is scarce, and the mechanism of liver impairment in this condition remains unclear. Currently, there is no indication for liver-function tests during follow-up and their clinical or prognostic utility is unknown.

Scoping review of the recommendations and guidance for improving the quality of rare disease registries.

Background: Rare disease registries (RDRs) are valuable tools for improving clinical care and advancing research. However, they often vary qualitatively, structurally, and operationally in ways that can determine their potential utility as a source of evidence to support decision-making regarding the approval and funding of new treatments for rare diseases.

Objectives: The goal of this research project was to review the literature on rare disease registries and identify best practices to improve the quality of RDRs.

Interlocking intramedullary nail for forearm diaphyseal fractures in adults-A systematic review and meta-analysis of outcomes and complications.

Purpose: The purpose of this systematic review is to examine the outcomes, complications, and potential advantages of using anatomical interlocking intramedullary nails (IMN) in the treatment of radius and ulnar shaft diaphyseal fractures in adults.

Methods: Medline, Embase, Web of Science, and Cumulative Index to Nursing and Allied Health Literature (CINAHL) databases were searched between January 2000 and January 2023. Studies meeting criteria were observational or randomized controlled trials evaluating outcomes in IMN for adult diaphyseal forearm fractures.

Homozygosity for disease-causing variants in AMT and GLDC in a patient with severe nonketotic hyperglycinemia.

Nonketotic hyperglycinemia (NKH) is a relatively well-characterized inborn error of metabolism that results in a combination of lethargy, hypotonia, seizures, developmental arrest, and, in severe cases, death early in life. Three genes encoding components of the glycine cleavage enzyme system-GLDC, AMT, and GCSH-are independently associated with NKH. We report on a patient with severe NKH in whom the homozygous pathogenic variant in AMT (NM_000481.

Integrating cryptic diversity into coral evolution, symbiosis and conservation.

Understanding how diversity evolves and is maintained is critical to predicting the future trajectories of ecosystems under climate change; however, our understanding of these processes is limited in marine systems. Corals, which engineer reef ecosystems, are critically threatened by climate change, and global efforts are underway to conserve and restore populations as attempts to mitigate ocean warming continue. Recently, sequencing efforts have uncovered widespread undescribed coral diversity, including 'cryptic lineages'-genetically distinct but morphologically similar coral taxa.

Proximal Row Carpectomy With Soft Tissue Interposition: A Systematic Review of Clinical Outcomes.

Proximal row carpectomy (PRC) with soft tissue interposition arthroplasty (STIA) presents an alternative approach to addressing wrist arthritis patterns involving the capitate and/or lunate fossa, in lieu of wrist arthrodesis. This systematic review aimed to evaluate clinical outcomes and techniques associated with PRC-STIA in patients with advanced wrist arthritis. We conducted a systematic review using databases including PubMed, Embase, MEDLINE, and the Cochrane Central Register of Controlled Trials.