Identification of De Novo Chromosomal Translocations Disrupting NIPBL in a Patient With Cornelia de Lange Syndrome by Full Genome Analysis.

Background: Cornelia de Lange syndrome (CdLS) is a rare genetic disorder characterized by congenital multiple anomalies, developmental delay, and distinctive facial features.

Methods: We performed chromosomal microarray analysis (CMA), whole exome sequencing (WES), linked-read whole-genome sequencing (WGS) and optical genome mapping (OGM) to investigate an undiagnosed case of CdLS.

Results: A male patient presented clinical features consistent with CdLS, including a short nose, synophrys, small hands, hearing impairment, refractory complex partial seizures, and developmental delay.

Total care of trauma patients from triage to discharge at Chang Gung Memorial Hospital: introducing the development of an iconic acute care surgery system in Taiwan.

Background: The Acute Care Surgery (ACS) model has evolved to provide structured care across trauma, critical care, and emergency general surgery. This innovative model effectively addresses significant challenges within trauma care. Research indicates that trauma surgeons operating under this expanded scope deliver high-quality care while enjoying professional satisfaction.

Kidney multiome-based genetic scorecard reveals convergent coding and regulatory variants.

Kidney dysfunction is a major cause of mortality, but its genetic architecture remains elusive. In this study, we conducted a multiancestry genome-wide association study in 2.2 million individuals and identified 1026 (97 previously unknown) independent loci.

Role of IL3RA in a Family with Lumbar Spinal Stenosis.

Lumbar spinal stenosis (LSS) is a degenerative spinal condition characterized by the narrowing of the spinal canal, resulting in low back pain (LBP) and limited leg mobility. Twin and family studies have suggested that genetics contributes to disease progression. However, the genetic causes of familial LSS remain unclear.

Nanodiamonds-in-oil emulsions elicit potent immune responses for effective vaccination and therapeutics.

The use of nanodiamonds (NDs) and fluorescent nanodiamonds (FNDs) as nonallergenic biocompatible additives in incomplete Freund's adjuvant (IFA) to elicit immune responses was investigated. C57BL/6 mice were immunized with chicken egg ovalbumin (OVA) in IFA and also OVA-conjugated NDs (or OVA-conjugated FNDs) in IFA to produce antibodies. OVA-expressing E.

Preinjury warfarin does not cause failure of nonoperative management in patients with blunt hepatic, splenic or renal injuries.

Background: For patients sustaining major trauma, preinjury warfarin use may make adequate haemostasis difficult. This study aimed to determine whether preinjury warfarin would result in more haemostatic interventions (transarterial embolization [TAE] or surgeries) and a higher failure rate of nonoperative management for blunt hepatic, splenic or renal injuries.

Methods: This was a retrospective cohort study from the Taiwan National Health Insurance Research Database (NHIRD) from 2003 to 2015.

Evaluating the advantages of treating acute cholecystitis by following the Tokyo Guidelines 2018 (TG18): a study emphasizing clinical outcomes and medical expenditures.

Background: Acute cholecystitis (AC) is a common surgical emergency. The Tokyo Guidelines 2018 (TG18) provides a reliable algorithm for the treatment of AC patients to achieve optimal outcomes. However, the economic benefits have not been validated.

Towards a reference genome that captures global genetic diversity.

The current human reference genome is predominantly derived from a single individual and it does not adequately reflect human genetic diversity. Here, we analyze 338 high-quality human assemblies of genetically divergent human populations to identify missing sequences in the human reference genome with breakpoint resolution. We identify 127,727 recurrent non-reference unique insertions spanning 18,048,877 bp, some of which disrupt exons and known regulatory elements.

The Prognosis of Blunt Bowel and Mesenteric Injury-the Pitfall in the Contemporary Image Survey.

Delayed diagnosis and intervention of blunt bowel and mesenteric injury (BBMI) is a hazard because of poor prognosis. Computed tomography (CT) is the standard imaging tool to evaluate blunt abdominal trauma (BAT). However, a high missed diagnosis rate for BMMI was reported.

Bioorthogonal Fluorescent Nanodiamonds for Continuous Long-Term Imaging and Tracking of Membrane Proteins.

Real-time tracking of membrane proteins is essential to gain an in-depth understanding of their dynamics on the cell surface. However, conventional fluorescence imaging with molecular probes like organic dyes and fluorescent proteins often suffers from photobleaching of the fluorophores, thus hindering their use for continuous long-term observations. With the availability of fluorescent nanodiamonds (FNDs), which have superb biocompatibility and excellent photostability, it is now possible to conduct the imaging in both short and long terms with high temporal and spatial resolution.

Quantification and Imaging of Antigens on Cell Surface with Lipid-Encapsulated Fluorescent Nanodiamonds.

Quantifying the density and locating the position of antigens on cell surface has been a challenge in molecular biology research. The challenge lies in the need for a chemically and photophysically stable fluorophore to achieve the required sensitivity and accuracy. Here, we present a method suitable for the purpose by using lipid-encapsulated fluorescent nanodiamonds (FNDs) of 35 nm in diameter as biolabels.

Single-Step Metal-Free Grafting of Cationic Polymer Brushes on Fluorescent Nanodiamonds.

Cationic polymers are often employed in conjugation with nanomaterials, and the resultant hybrids are useful for various bioapplications. Here, a single-step metal-free method for the synthesis of fluorescent nanodiamonds (FNDs) conjugated with cationic polymer brushes is reported. Distinct from the common methods such as atom transfer radical polymerization and reversible addition fragmentation chain transfer, our ring-opening-polymerization-based method is simple and less time consuming and hazardous.

Highly stable lipid-encapsulation of fluorescent nanodiamonds for bioimaging applications.

Highly stable lipid-encapsulated fluorescent nanodiamonds (FNDs) are produced by photo-crosslinking of diacetylene-containing lipids physically attached to the FND surface. Not only is this coating method simple and fast, but also it gives the FND-lipid hybrids favorable properties for bioapplications. The hybrids are useful as fluorescent biolabels as well as fiducial markers for correlative light and electron microscopy.

Correlative Light-Electron Microscopy of Lipid-Encapsulated Fluorescent Nanodiamonds for Nanometric Localization of Cell Surface Antigens.

Containing an ensemble of nitrogen-vacancy centers in crystal matrices, fluorescent nanodiamonds (FNDs) are a new type of photostable markers that have found wide applications in light microscopy. The nanomaterial also has a dense carbon core, making it visible to electron microscopy. Here, we show that FNDs encapsulated in biotinylated lipids (bLs) are useful for subdiffraction imaging of antigens on cell surface with correlative light-electron microscopy (CLEM).

Non-operative management is feasible for selected blunt trauma patients with pericardial effusion.

Background: Blunt pericardial effusion (BPE) in trauma patients can be suggestive of injuries to the heart or great vessels. Surgical exploration is the mainstay of management; however, the effectiveness of non-operative management in this patient group remains unclear.

Methods: Patients presenting with BPE in the trauma registry system at our level I trauma center were reviewed.

Fluorescent nanodiamond tracking reveals intraneuronal transport abnormalities induced by brain-disease-related genetic risk factors.

Brain diseases such as autism and Alzheimer's disease (each inflicting >1% of the world population) involve a large network of genes displaying subtle changes in their expression. Abnormalities in intraneuronal transport have been linked to genetic risk factors found in patients, suggesting the relevance of measuring this key biological process. However, current techniques are not sensitive enough to detect minor abnormalities.

Clinical effect of a positive surgical margin after hepatectomy on survival of patients with intrahepatic cholangiocarcinoma.

Background: Several unfavorable prognostic factors have been proposed for peripheral cholangiocarcinoma (PCC) in patients undergoing hepatectomy, including gross type of tumor, vascular invasion, lymph node metastasis, a high carbohydrate antigen 19-9 level, and a positive resection margin. However, the clinical effect of a positive surgical margin on the survival of patients with PCC after hepatectomy still needs to be clarified due to conflicting results.

Methods: A total of 224 PCC patients who underwent hepatic resection with curative intent between 1977 and 2007 were retrospectively reviewed.

Pain relief from combined wound and intraperitoneal local anesthesia for patients who undergo laparoscopic cholecystectomy.

Background: Laparoscopic cholecystectomy (LC) has become the treatment of choice for gallbladder lesions, but it is not a pain-free procedure. This study explored the pain relief provided by combined wound and intraperitoneal local anesthetic use for patients who are undergoing LC.

Methods: Two-hundred and twenty consecutive patients undergoing LC were categorized into 1 of the following 4 groups: local wound anesthetic after LC either with an intraperitoneal local anesthetic (W + P) (group 1) or without an intraperitoneal local anesthetic (W + NP) (group 2), or no local wound anesthetic after LC either with intraperitoneal local anesthetic (NW + P) (group 3) or without an intraperitoneal local anesthetic (NW + NP) (group 4).

The hemocompatibility of oxidized diamond nanocrystals for biomedical applications.

Low-dimensional carbon-based nanomaterials have recently received enormous attention for biomedical applications. However, increasing evidence indicates that they are cytotoxic and can cause inflammatory responses in the body. Here, we show that monocrystalline nanodiamonds (NDs) synthesized by high-pressure-high-temperature (HPHT) methods and purified by air oxidation and strong oxidative acid treatments have excellent hemocompatibility with negligible hemolytic and thrombogenic activities.

Clinicopathological features and prognostic factors of gastric cancer patients aged 40 years or younger.

Background And Objectives: Gastric adenocarcinoma (GC) occurs frequently in the sixth decade of life and is uncommon in patients aged 40 years or younger. The aims of this study were to define the clinicopathological features and elucidate the prognostic factors of GC in the young.

Methods: Between 1998 and 2006, 1,815 GC patients undergoing resection were enrolled in a prospective database.

Lung cancer susceptibility and prognosis associated with polymorphisms in the nonhomologous end-joining pathway genes: a multiple genotype-phenotype study.

Background: Nonsmall cell lung cancer (NSCLC) frequently exhibits genomic instability, such as high fractional allelic loss (FAL). Genomic instability may result from unrepaired or misrepaired double-strand breaks (DSBs). The authors of this report postulated that polymorphisms in genes of the nonhomologous end-joining (NHEJ) pathway, which is the major DSB repair pathway in mammalian cells, may modulate lung cancer susceptibility and prognosis.

Minimal deletion regions in lung squamous cell carcinoma: association with abnormality of the DNA double-strand break repair genes and their applications on gene identification and prognostic biomarkers.

Background: Lung squamous cell carcinoma (SCC) cells frequently exhibit markers of chromosome instability such as high fractional allelic loss (FAL). We postulated that alterations in the p53 damage responsive gene and in the double-strand break (DSB) repair genes, BRCA1 and XRCC5, are involved in patients with high FAL. In addition, chromosomal deletion analysis enables the delineation of the likely locations of tumor suppressor genes (TSG) and could provide molecular markers for disease classification.