ELMO2-related intraosseous vascular malformation: new cases with novel pathogenic variants, clinical follow-up and therapeutic approaches.

Primary intraosseous vascular malformation (VMPI, #606893) is an ultra-rare disorder caused by biallelic pathogenic variants in ELMO2. To date, only six families with pathogenic ELMO2 variants causing a VMPI phenotype have been described. VMPI is characterized by vascular malformations that compress the facial bones, often leading to life-threatening complications, such as massive bleeding and intracranial herniation.

Increasing the Beam Width and Intensity with Refraction Power Effect Using a Combination of Beam Mirrors and Concave Mirrors for Surgical-Fluorescence-Emission-Guided Cancer Monitoring Method.

The primary goal during cancer removal surgery is to completely excise the malignant tumor. Because the color of the tumor and surrounding tissues is very similar, it is difficult to observe with the naked eye, posing a risk of damaging surrounding blood vessels during the tumor removal process. Therefore, fluorescence emission is induced using a fluorescent contrast agent, and color classification is monitored through camera imaging.

Optical Methods for Optimizing Fluorescence Imaging Field of View and Image Quality in Surgical Guidance Procedures.

Cancer surgery is aimed at complete tumor resection and accurate lymph node detection. However, numerous blood vessels are distributed within the tumor, and the colors of the tumor, blood vessels, and lymph nodes are similar, making observations with the naked eye difficult. Therefore, tumors, blood vessels, and lymph nodes can be monitored via color classification using an operating microscope to induce fluorescence emission.

Improved Acromiohumeral Distance Independently Predicts Better Outcomes After Arthroscopic Superior Capsular Reconstruction Graft Tears.

Purpose: To identify independent factors responsible for poor outcomes after a graft tear after arthroscopic superior capsular reconstruction (ASCR).

Methods: Patients who underwent ASCR for massive rotator cuff tears between January 2013 and July 2021were reviewed. On the basis of the achievement of the minimal clinically important differences for clinical outcome measures at the final follow-up, patients were divided into the good outcome (GO) and poor outcome (PO) groups.

Clinical validation of enhanced CT imaging for distal radius fractures through conditional Generative Adversarial Networks (cGAN).

Background/purpose: Distal radius fractures (DRFs) account for approximately 18% of fractures in patients 65 years and older. While plain radiographs are standard, the value of high-resolution computed tomography (CT) for detailed imaging crucial for diagnosis, prognosis, and intervention planning, and increasingly recognized. High-definition 3D reconstructions from CT scans are vital for applications like 3D printing in orthopedics and for the utility of mobile C-arm CT in orthopedic diagnostics.

A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia.

VLDLR cerebellar hypoplasia is characterized by intellectual disability, non-progressive cerebellar ataxia, and seizures. The characteristic MRI findings include hypoplasia of the inferior portion of the cerebellar vermis and hemispheres, simplified cortical gyration, and a small brain stem. Biallelic VLDLR pathogenic variants cause loss-of-function of the encoded very low-density lipoprotein receptor.

Atomic Layer Growth of Rutile TiO Films with Ultrahigh Dielectric Constants via Crystal Orientation Engineering.

In general, the electronic and optical properties of oxide films can significantly benefit from highly textured crystallinity. However, oxide films grown by atomic layer deposition (ALD), a powerful technique for the synthesis of high-quality, nanoscale thin films, usually exhibit amorphous or randomly oriented polycrystalline phases. Here, we demonstrate the growth of highly textured rutile phase ALD TiO films through rational substrate design.

Antiepileptic and Neuroprotective Effects of Root Extract on Trimethyltin-Induced Epilepsy and Neurodegeneration: and Analyses.

Background: root, cataloged as "" in the Korean Pharmacopeia, is rich in various anthraquinones known for their anti-inflammatory and antioxidant properties. Formulations containing are traditionally employed for treating neurological conditions. This study aimed to substantiate the antiepileptic and neuroprotective efficacy of root extract (RTE) against trimethyltin (TMT)-induced epileptic seizures and hippocampal neurodegeneration.

How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype.

Here we report the case of a young boy with developmental delay, thin sparse hair, early closure of the anterior fontanel, bilateral choanal atresia, brachyturicephaly; and dysmorphic features closely resembling those seen in trichorhinophalangeal syndrome (TRPS). These features include sparse hair, sparse lateral eyebrows, a bulbous pear shaped nose, a long philtrum, thin lips, small/hypoplastic nails, pes planovalgus; bilateral cone-shaped epiphyses at the proximal 5th phalanx, slender long bones, coxa valga, mild scoliosis, and delayed bone age. Given that TRPS had been excluded by a thorough genetic analysis, whole exome sequencing was performed and a heterozygous likely pathogenic variant was identified in the FBXO11 gene (NM_001190274.

Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing.

Background And Objectives: Exome sequencing (ES) demonstrates a 20-50 percent diagnostic yield for patients with a suspected monogenic neurologic disease. Despite the proven efficacy in achieving a diagnosis for such patients, multiple barriers for obtaining exome sequencing remain. This study set out to assess the efficacy of ES in patients with primary neurologic phenotypes who were appropriate candidates for testing but had been unable to pursue clinical testing.

Effect of age and gender in rates of achieving minimal clinically important difference and patient-acceptable symptom state 2 years after arthroscopic superior capsular reconstruction.

Purpose: This study aimed to evaluate patient-reported outcome measures (PROMs) and the effects of gender and age on achieving clinically significant outcomes in patients undergoing arthroscopic superior capsular reconstruction (ASCR) with a minimum 2-year follow-up.

Methods: Patients undergoing ASCR for irreparable rotator cuff tear between 2013 and 2020 were reviewed. Preoperative and minimum 2-year postoperative PROMs were collected, including American Shoulder and Elbow Surgeons (ASES), Constant, single assessment numeric evaluation (SANE), and visual analog scale (VAS) scores.

Preoperative magnetic resonance imaging rotator cuff tendon stump classification correlates with the surgical outcomes following superior capsular reconstruction.

Hypothesis: This study aimed to investigate the correlation between rotator cuff stump classification and postoperative outcomes after superior capsular reconstruction (SCR).

Methods: A total of 75 patients who underwent SCR between June 2013 and May 2021 were included in this study. Based on stump classification using the signal intensity ratio of the tendon rupture site to the deltoid muscle in the coronal view of preoperative T2-weighted, fat-suppressed magnetic resonance imaging scans, the patients were classified into types 1, 2, and 3 with ratios of <0.

Mass spectrometry-guided isolation of thiodiketopiperazines from an EtOAc-extract of Setosphaeria rostrata culture medium and their anti-skin aging effects on TNF-α-induced human dermal fibroblasts.

Using mass spectrometry (MS)-guided isolation methods, a new thiodiketopiperazine derivative (1) and exserohilone (2) were isolated from an EtOAc-extract of Setosphaeria rostrata culture medium. The chemical structure of the new compound was elucidated by MS and NMR spectroscopy, and the absolute configurations were established by the quantum mechanical calculations of electronic circular dichroism. All isolated compounds were examined for their effects on reactive oxygen species (ROS) production, matrix metalloproteinase 1 (MMP-1) secretion, and procollagen type I α1 secretion in tumor necrosis factor (TNF)-α-induced human dermal fibroblasts.

Exploring ideal operative time for best outcomes in gastric cancer surgery: A multi-institutional study based on KLASS-07 database.

Objective: While a rushed operation can omit essential procedures, prolonged operative time results in higher morbidity. Nevertheless, the optimal operative time range remains uncertain. This study aimed to estimate the ideal operative time range and evaluate its applicability in laparoscopic cancer surgery.

Multi-Asymmetric Irradiation Method Using a Ring Array to Obtain an Emission-Capable LED Beam Power Effect to Observe Cancer Removal Status in a Surgical Microscope.

The light emitting diodes (LEDs) used in surgical fluorescence microscopes have weak power, to induce fluorescence emission. The LED induces fluorescence emission throughout a lesion due to its large beam width; however, the beam irradiation intensity is not uniform within the beam width, resulting in a fluorescence emission induction difference. To overcome this problem, this study proposes an asymmetric irradiation array for supplying power uniformly throughout the beam width of the LED and increasing the intensity of the LED.

Design of a Compact Hologram System Capable of 3D Lesion Diagnosis in Clinic.

Motivation: This paper proposes a small-sized hologram system for the 3D imaging of lesions in a clinical environment. In a general hologram system, the distance between the beam-generating device and the screen (400 mm) and the size of the screen must be increased proportionally to obtain excellent image quality. However, in a clinical environment, the beam spread distance and screen size must be reduced.

Unveiling genetics of non-syndromic albinism using whole exome sequencing: A comprehensive study of TYR, TYRP1, OCA2 and MC1R genes in 17 families.

Background: Oculocutaneous albinism (OCA) is a group of skin depigmentation disorders. Clinical presentation of OCA includes defects in melanocyte differentiation, melanin biosynthesis, and melanosome maturation and transport.

Objectives: A molecular diagnostics study of families presenting oculocutaneous albinism.

Optimization of the optical transparency of bones by PACT-based passive tissue clearing.

Recent developments in tissue clearing methods such as the passive clearing technique (PACT) have allowed three-dimensional analysis of biological structures in whole, intact tissues, thereby providing a greater understanding of spatial relationships and biological circuits. Nonetheless, the issues that remain in maintaining structural integrity and preventing tissue expansion/shrinkage with rapid clearing still inhibit the wide application of these techniques in hard bone tissues, such as femurs and tibias. Here, we present an optimized PACT-based bone-clearing method, Bone-mPACT+, that protects biological structures.

Overcoming the Challenges in the Development and Implementation of Artificial Intelligence in Radiology: A Comprehensive Review of Solutions Beyond Supervised Learning.

Artificial intelligence (AI) in radiology is a rapidly developing field with several prospective clinical studies demonstrating its benefits in clinical practice. In 2022, the Korean Society of Radiology held a forum to discuss the challenges and drawbacks in AI development and implementation. Various barriers hinder the successful application and widespread adoption of AI in radiology, such as limited annotated data, data privacy and security, data heterogeneity, imbalanced data, model interpretability, overfitting, and integration with clinical workflows.