Heterozygous variants in affect hearing, vision, cardiac, and immune function.

Phospholipase C isozymes (PLCs) hydrolyze phosphatidylinositol 4,5-bisphosphate (PIP) into inositol 1,4,5-trisphosphate (IP) and diacylglycerol (DAG), important signaling molecules involved in many cellular processes including Ca release from the endoplasmic reticulum (ER). encodes the PLCγ1 isozyme that is broadly expressed. Hyperactive somatic mutations of are observed in multiple cancers, but only one germline variant has been reported.

Lower labial vermilion myomucosal flap for commissuroplasty of Tessier 7 transverse facial cleft.

Background: Repairing a transverse facial cleft (TFC) while achieving complete closure of the orbicularis oris muscular ring presents a significant surgical challenge.

Aims: This study evaluated the outcomes of commissuroplasty using a lower labial vermilion myomucosal flap (LVMF) for TFC repair.

Materials And Methods: Twelve patients with TFC were enrolled, including five boys and seven girls (median age: 8.

Epithelioid angiosarcoma of the cervical spine: A case report.

Background: Epithelioid angiosarcoma (EA) is an aggressive, malignant endothelial-cell tumor of vascular or lymphatic origin. EA often arises from deep soft tissues such as pleura, breast, bone and gastrointestinal tract. It usually affects patients aged 60-70 years and is associated with high recurrence and metastasis rates with surgical resection as the primary treatment of choice.

Early Echocardiographic Predictors of Rapid Progression in Moderate Aortic Stenosis: a Multi-center Prospective Cohort Study of 650 Patients.

Introduction: Moderate aortic stenosis (AS) has traditionally been considered a stable condition, but recent evidence suggests that some patients progress rapidly to severe AS, leading to earlier symptom onset and worse outcomes. Current guidelines primarily focus on severe AS, leaving a gap in risk stratification for moderate cases. This study aims to identify echocardiographic and clinical predictors of rapid progression in moderate AS to refine patient selection for closer monitoring and early intervention.

Traumatic vertebral artery transection injury: illustrative case.

Background: Vertebral artery injury (VAI) is a rare but serious condition, with an incidence of 0.24%-2% following blunt trauma and 1%-6% after penetrating injuries. Often asymptomatic, VAI carries significant risks, including ischemic strokes and severe neurological deficits, with symptoms appearing up to 6 months postinjury.

P253 Next-generation phenotyping facilitates the identification of structural brain malformations in rare disorders through computational brain MRI analysis.

Introduction: Many rare disorders, particularly neurodevelopmental conditions, manifest structural brain malformations. Just as dysmorphologists rely on facial gestalt recognition to identify syndromes, radiologists and neurologists face similar challenges in identifying the "brain gestalt" of rare disorders-especially when encountering rare conditions or those they have not previously seen. Next-generation phenotyping (NGP) has been proven capable of supporting clinicians in recognizing facial dysmorphic patterns associated with the underlying syndrome through training on thousands of patient photographs.

Abbe-Estlander flap reconstruction in infants with extensive upper lip defects following oncosurgery: Two case reports.

Background: Surgical resection of malignant lip tumors and the reconstruction of extensive lip defects in infants pose significant challenges. We evaluated the effectiveness of the Abbe-Estlander (A-E) flap in repairing upper lip defects in infants following oncosurgery.

Case Presentation: We present two cases of pediatric upper lip malignancies: an 18-month-old infant diagnosed with fibrosarcoma (FS) of the right upper lip (Case 1) and a 19-month-old infant diagnosed with rhabdomyosarcoma (RMS) of the left upper lip (Case 2).

Quenching of Defect-Induced Photoluminescence in a Boron-Nitride and Carbon Hetero-nanotube.

Using a 266 nm laser, we simultaneously observe Raman and photoluminescence (PL) spectra of vertically aligned boron-nitride nanotubes (VA-BNNT) and single-walled carbon nanotubes (SWNT) encapsulated by boron nitride (VA-SWNT@BNNT). The larger PL intensity in VA-BNNT compared to that of the h-BN single crystal suggests that VA-BNNT contains more defect states. VA-SWNT@BNNT exhibits two multiphonon Raman peaks at 3033 and 3142 cm and four PL peaks at 4639, 5859, 6905, and 8293 cm.

Classification and Treatment of Complications Related to Titanium and Biodegradable Miniplates Using the Lip-Split Transmandibular Approach for Oral and Oropharyngeal Oncological Surgery.

Background: There is a lack of classified definitions and corresponding treatment principles for complications related to titanium miniplate (TMP) and biodegradable miniplate (BMP).

Aims: This study proposes a classification system for complications related to TMP and BMP osteosynthesis and evaluates the effectiveness of the classification system in the treatment of the complications.

Methods: One hundred forty-two patients with advanced-stage oral cavity and oropharynx squamous cell carcinoma (SCC) underwent oncological surgery via lip-split transmandibular (LTM) approach including midline, paramedian, stair-step, and triangle.

Multimodal Management of Ruptured Internal Carotid Artery Blood Blister-like Aneurysm: Technical Notes and Case Series of Surgical Muscle Wrapping and Fenestration Clipping Combined with Flow-Diverter Embolization.

Objective: To evaluate the effects of a multimodal management technique combining surgical muscle wrapping, clipping, and flow-diverter stent (FDS) placement in patients with ruptured blood blister-like aneurysms (BBAs) in the internal carotid artery (ICA).

Methods: In a retrospective case series review from 2020 to 2023, 3 patients with ruptured ICA BBAs underwent multimodal management, an approach combining muscle wrapping, surgical clipping, and FDS embolization. The aneurysm sac was initially packed and wrapped with multiple tailored temporalis muscle grafts and then secured using fenestration clips, with good preservation of the ICA branches.

Unraveling the Link: Seizure Characteristics and Ammonia Levels in Urea Cycle Disorder During Hyperammonemic Crises.

Background: This retrospective clinical study performed at a single clinical center aimed to identify the prevalence of seizures in individuals with urea cycle disorders (UCDs) with and without hyperammonemic (HA) crises. In addition, we sought to correlate the utility of biochemical markers and electroencephalography (EEG) in detecting subclinical seizures during HA.

Methods: Medical records of individuals with UCDs enrolled in Urea Cycle Disorders Consortium Longitudinal Study (UCDC-LS) (NCT00237315) at Children's National Hospital between 2006 and 2022 were reviewed for evidence of clinical and subclinical seizuress during HA crises, and initial biochemical levels concurrently.

Xylooligosaccharides alleviate the carbohydrate-enriched diet-induced intestinal barrier dysfunction in carp Megalobrama amblycephala by promoting intestinal development, immunity and gut microbiota.

To date, although the high-carbohydrate (HC) feed has been extensively adopted in the aquaculture industry, its effects on the intestinal function and development of aquatic animals still remain unclear. In addition, the corresponding nutritional intervention is still barely reported. This study aimed to evaluate the influence of xylooligosaccharides (XOS) on the intestinal health of Megalobrama amblycephala subjected to a HC feeding.

Periodontal conditions of teeth adjacent to dental implants with or without peri-implantitis after non-surgical therapy in patients treated for periodontitis: A retrospective study.

Objectives: To retrospectively assess the periodontal conditions of teeth adjacent to and contralateral to implants presenting with or without peri-implantitis, following non-surgical periodontal and peri-implant mechanical therapy.

Materials And Methods: One hundred and one patients with existing dental implants and chronic periodontitis, who underwent non-surgical periodontal and peri-implant mechanical therapy, were included. The periodontal clinical probing depth (PPD), gingival recession (GR), and bleeding on probing (BOP) were recorded at six sites around the adjacent (Adj-) teeth and the contralateral (CL-) teeth relative to the implant.

Acupuncture improves neurological function and anti-inflammatory effect in patients with acute ischemic stroke: A double-blinded randomized controlled trial.

Background And Purpose: Acupuncture exerts an anti-inflammatory effect and is recommended by the World Health Organization as a complementary therapy for stroke. This study investigated the improvement in neurological function outcome in acute-stage intervention of acute ischemic stroke (AIS), and the anti-inflammatory effect of early acupuncture.

Methods: Fifty patients with AIS were randomly assigned to either a control group (CG, 25 patients, received sham acupuncture) or treatment group (TG, 25 patients, received acupuncture treatment).

Investigating cartilage-related diseases by polarization-resolved second harmonic generation (P-SHG) imaging.

Establishing quantitative parameters for differentiating between healthy and diseased cartilage tissues by examining collagen fibril degradation patterns facilitates the understanding of tissue characteristics during disease progression. These findings could also complement existing clinical methods used to diagnose cartilage-related diseases. In this study, cartilage samples from normal, osteoarthritis (OA), and rheumatoid arthritis (RA) tissues were prepared and analyzed using polarization-resolved second harmonic generation (P-SHG) imaging and quantitative image texture analysis.

Three-dimensional ultrafast charge-density-wave dynamics in CuTe.

Charge density waves (CDWs) involved with electronic and phononic subsystems simultaneously are a common quantum state in solid-state physics, especially in low-dimensional materials. However, CDW phase dynamics in various dimensions are yet to be studied, and their phase transition mechanism is currently moot. Here we show that using the distinct temperature evolution of orientation-dependent ultrafast electron and phonon dynamics, different dimensional CDW phases are verified in CuTe.

Effects of occupational exposure to metal fume PM on lung function and biomarkers among shipyard workers: a 3-year prospective cohort study.

Objective: This study investigates the associations of α1-antitrypsin, inter-α-trypsin inhibitor heavy chain (ITIH4), and 8-isoprostane with lung function in shipyard workers exposed to occupational metal fume fine particulate matter (PM), which is known to be associated with adverse respiratory outcomes.

Methods: A 3-year follow-up study was conducted on 180 shipyard workers with 262 measurements. Personal exposure to welding fume PM was collected for an 8-h working day.

Spatial correspondence of cortical activity measured with whole head fNIRS and fMRI: Toward clinical use within subject.

Functional near infrared spectroscopy (fNIRS) and functional magnetic resonance imaging (fMRI) both measure the hemodynamic response, and so both imaging modalities are expected to have a strong correspondence in regions of cortex adjacent to the scalp. To assess whether fNIRS can be used clinically in a manner similar to fMRI, 22 healthy adult participants underwent same-day fMRI and whole-head fNIRS testing while they performed separate motor (finger tapping) and visual (flashing checkerboard) tasks. Analyses were conducted within and across subjects for each imaging approach, and regions of significant task-related activity were compared on the cortical surface.

Heterozygous variants in affect hearing, vision, cardiac, and immune function.

Phospholipase C isozymes (PLCs) hydrolyze phosphatidylinositol 4,5-bisphosphate (PIP) into inositol 1,4,5-trisphosphate (IP) and diacylglycerol (DAG), important signaling molecules involved in many cellular processes including Ca release from the endoplasmic reticulum (ER). encodes the PLCγ1 isozyme that is broadly expressed. Hyperactive somatic mutations of are observed in multiple cancers, but only one germline variant has been reported.

Applications of near-infrared spectroscopy in epilepsy, with a focus on mitochondrial disorders.

Mitochondrial diseases are inherited disorders that impede the mitochondria's ability to produce sufficient energy for the cells. They can affect different parts of the body, notably the brain. Neurological symptoms and epilepsy are prevalent in patients with mitochondrial disorders.

Negative Association of Serum β-Cryptoxanthin With Benzene and Its Derivatives.

Objective: Benzene is widely recognized as a potential carcinogen. Furthermore, the deficiency of specific nutrients may render individuals more vulnerable to cancer. For instance, β-cryptoxanthin, which possesses anti-inflammatory, antioxidant, and anticancer properties, has been identified as one such nutrient.