Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search.

There are hundreds of rare syndromic diseases involving hearing loss, many of which are not targeted for clinical genetic testing. We systematically explored the genetic causes of undiagnosed syndromic hearing loss using a combination of whole exome sequencing (WES) and a phenotype similarity search system called PubCaseFinder. Fifty-five families with syndromic hearing loss of unknown cause were analyzed using WES after prescreening of several deafness genes depending on patient clinical features.

Real-Time Subcutaneous Arterial Navigation for Thinning of an Anterolateral Thigh Flap Using Photoacoustic Imaging and Projection Mapping: A Case Report.

Thinning of anterolateral thigh flap is challenging. Anatomical studies have shown variations in arterial branching patterns in the subcutaneous layer, which were suspected to be the reason for the high frequency of thinning failures. We attempted to visualize subcutaneous arterial courses preoperatively and perform thinning of perforator flaps using this information appropriately.

Postoperative Outcomes of Laparoscopic Hepatic Resection Combined With Radiofrequency Ablation for Two or Three Hepatocellular Carcinomas: A Case Series of Nine Patients.

Introduction: Hepatic resection (HR) and radiofrequency ablation (RFA) are curative treatments for three or fewer hepatocellular carcinomas in Japan. The laparoscopic approach in both has been used in recent years; however, its treatment outcome in combination with HR with RFA is unclear. We aimed to gain insights into this combined treatment.

Planned Y-shaped Muscle Wrapping for Salvaging Aortic Graft Infection: Latissimus Dorsi and Reverse Serratus Anterior Muscles.

Aorta-related infections are life threatening. Aggressive replacement surgery using artificial aortic grafts should be performed using well-vascularized tissue wrapping to avoid reinfection. An omental flap is the first choice; however, a history of abdominal surgery necessitates other methods.

Adipogenesis of bioabsorbable implants under irradiation in a rodent model.

Background: Breast cancer is the most common cancer among women. Partial mastectomy is an alternative to mastectomy in early-stage breast cancer to restore a poor quality of life (QOL). However, the aesthetic satisfaction with this procedure is inadequate.

Noninvasive visualization of the midline-crossing arterial variation in the deep inferior epigastric artery perforator flap using photoacoustic tomography for application in patients with abdominal scars.

Background: The importance of the subcutaneous arterial network crossing the midline in transverse abdominal flaps has been reported. Photoacoustic tomography can be used to noninvasively visualize subcutaneous vascular networks. We applied this novel technology preoperatively in patients undergoing breast reconstruction to detect individual variations in the midline-crossing arteries.

Beyond visualizing the bird beak: esophagram, timed barium esophagram and manometry in achalasia and its 3 subtypes.

Achalasia is a rare esophageal motility disorder characterized by lack of primary peristalsis and a poorly relaxing lower esophageal sphincter. This disease process can be examined several ways and these evaluations can offer complementary information. There are three manometric subtypes of achalasia, with differing appearances on esophagram.

Double-Flap Elevation From the Ipsilateral Lower Extremity: The Anterior Approach to Fibula Osteo-Cutaneous Flap Elevation.

The free fibular flap has been elevated by a "lateral approach" from the posterior edge of the peroneal muscle for more than 40 years. However, in this approach, the surgical view is limited because flap elevation in mandibular reconstruction is performed simultaneously with tumor resection in the supine position, even when using positioning pillows. We herein propose an "anterior approach" as a new surgical method.

Association between blood lipid levels in early pregnancy and urinary organophosphate metabolites in the Japan Environment and Children's Study.

Background: High low-density lipoprotein cholesterol levels (LDL-C) during pregnancy have been associated with adverse pregnancy and offspring outcomes. While previous studies have suggested a potential link between organophosphate pesticide (OPP) exposure and higher LDL-C in the general population and agricultural workers, the relationship in pregnant women and the effect of body mass index on this relationship remain unclear. We examined the association between the urinary concentrations of OPP metabolites (dialkylphosphates) and blood lipid levels in pregnant women.

Apomorphine Suppresses the Progression of Steatohepatitis by Inhibiting Ferroptosis.

The role of ferroptosis in steatohepatitis development is largely unknown. We investigated (1) whether hepatocyte ferroptosis occurs in a gene-modified steatohepatitis model without modifying dietary components, (2) whether ferroptosis occurs at an early stage of steatohepatitis, and (3) whether apomorphine, recently reported as a ferroptosis inhibitor, can ameliorate steatohepatitis. Hepatocyte-specific PTEN KO mice were used.

Sella turcica and facial bones: Morphological integration in the human fetal cranium.

Objectives: The cranial base plays a significant role in facial growth, and closer analyses of the morphological relationship between these two regions are needed to understand the morphogenesis of the face. Here, we aimed to study morphological integration between the sella turcica (ST) and facial bones during the fetal period using geometric morphometrics.

Materials And Methods: Magnetic resonance images of 47 human fetuses in the Kyoto Collection, with crown-rump lengths of 29.

Associations between dietary potassium intake and urinary potassium excretion: a protocol for systematic review and meta-analysis.

Background: While numerous studies have reported associations between low dietary potassium intake and adverse clinical outcomes, methods to estimate potassium intake, mainly self-reported dietary measures and urinary potassium excretion, entail certain limitations. Self-reported measures are subject to underreporting and overreporting. Urinary potassium excretion is affected by multiple factors including renal function.

Sustained increase of pinch strength after traction treatment for symptomatic distal interphalangeal joint osteoarthritis.

Background: Symptomatic distal interphalangeal joint osteoarthritis is a common joint disease that causes hand disability and reduces quality of life. There are few conservative treatment options for this condition. The purpose of this study was to investigate the effect of traction treatment on symptomatic distal interphalangeal joint osteoarthritis.

Shaft structure of the first metatarsal contains a strong phylogenetic signal in apes and humans.

Objectives: Metatarsal bones constitute a key functional unit of the foot in primates. While the form-function relationships of metatarsals have been extensively studied, particularly in relation to the loss of the grasping ability of the foot in humans in contrast to apes, the effect of phyletic history on the metatarsal morphology and its variability remains largely unknown.

Materials And Methods: Here, we evaluate how the strength of the phylogenetic signal varies from the first to the fifth metatarsal in humans, chimpanzees, gorillas, orangutans, gibbons, and Japanese macaques.

Simultaneous Reconstruction of the Bilateral Maxillae and Nasal Hard Structure Using a Vascularized and Nonvascularized Fibula.

Midfacial reconstruction for extensive defects of the hard nasal structures and bilateral maxillae is challenging. Postoperative radiotherapy causes skin contracture, making secondary reconstruction extremely difficult. A 57-year-old man underwent resection of the nasal bone, nasal cartilage, and hard palate for cancer of the nasal cavity.

Mid-life sleep is associated with cognitive performance later in life in aging American Indians: data from the Strong Heart Study.

Background: Sleep-related disorders have been associated with cognitive decline and neurodegeneration. American Indians are at increased risk for dementia. Here, we aim to characterize, for the first time, the associations between sleep characteristics and subsequent cognitive performance in a sample of aging American Indians.

Neck Point-of-Care Ultrasound for the Identification of Tongue-Base Cysts in Infants With Stridor: A Case Series.

Tongue-base cysts, which are occasionally categorized as vallecular cysts, are a rare yet potentially life-threatening cause of stridor in pediatric patients. Studies reporting the use of point-of-care ultrasound (POCUS) to identify tongue-base cysts are lacking. We present the case series of four infants in whom tongue-base cysts were detected using neck POCUS.