Hyaluronidase 2 deficiency due to novel compound heterozygous variants in HYAL2: a case report of siblings with HYAL2 deficiency showing different clinical severity and literature review.

This study reports the first Asian case of syndromic cleft lip and palate resembling CHARGE-like syndrome, caused by novel compound heterozygous variants of the HYAL2 gene. Hyaluronidase-2 (HYAL2) plays a critical role in hyaluronic acid degradation and tissue remodelling. A 2-year-old Japanese boy presented with growth deficiency, congenital heart disease, craniofacial dysmorphism, micropenis, and developmental delays-features that overlapped with those of CHARGE syndrome.

Anti-allergic properties of Australian bee pollen.

Bee pollen, an apicultural product collected by honeybees from flower stamens, is attracting attention as a functional food material. Our previous studies have shown that the major components of Australian bee pollen are hydroxycinnamoyl acid amides (HCAAs) (1-4) and flavonoids (5-8). In this study, we aimed to elucidate the effectiveness of Australian bee pollen.

The Change of Detrusor Contractility at 5 Years After Transurethral Resection of the Prostate: A Single Center Prospective Observational Study.

Objective: To prospectively assess the impact of transurethral resection of the prostate (TURP) on detrusor function using pressure flow study (PFS) at 5 years after surgery in a single center prospective non-randomized observational study.

Methods: Sixty consecutive male patients were prospectively enrolled and underwent TURP from November 2014 to November 2018. A questionnaire survey, free uroflowmetry, and PFS were performed at baseline, and 6, 24, and 60 months after surgery.

Growing knowledge impact of gene-editing technology on public acceptance: a longitudinal analysis in Japan.

Genome editing (GE) technology holds significant promise for advancements in crop development and medical applications. However, public acceptance of GE in Japan remains uncertain. This study aimed to examine how knowledge impacts public acceptance of GE technology, focusing on differences across diffusion stages and application purposes.

Programmable Computational RNA Droplets Assembled via Kissing-Loop Interaction.

DNA droplets, artificial liquid-like condensates of well-engineered DNA sequences, allow the critical aspects of phase-separated biological condensates to be harnessed programmably, such as molecular sensing and phase-state regulation. In contrast, their RNA-based counterparts remain less explored despite more diverse molecular structures and functions ranging from DNA-like to protein-like features. Here, we design and demonstrate computational RNA droplets capable of two-input AND logic operations.

Validity and Reproducibility of a Food Frequency Questionnaire for Dietary Assessment in Japanese People.

A 76-item food frequency questionnaire (FFQ) was developed to investigate nutritional epidemiology in urban residents in Japan. The authors prepared two food models-a life-size three-dimensional model and a life-size two-dimensional photograph-to assess the FFQ portion size. The validity of the FFQ was verified using the two food models by comparing them with 16-d weighted dietary records (WDRs).

[Two Cases of Retroperitoneal Synovial Sarcoma].

We experienced two cases of renal primary synovial sarcoma. Case 1: A 29-year-old man underwent laparoscopic radical nephrectomy and was originally diagnosed with renal cell carcinoma. Case 2: A 25-year-old man was treated by open radical nephrectomy since radiographical findings indicated tumor invasion to the ureter causing hydronephrosis.

Quantitative assessment of skin disorders induced by panitumumab: a prospective observational study.

Purpose: Acneiform rash is frequently observed in patients undergoing cancer treatment with anti-epidermal growth factor receptor (EGFR) antibody drugs and can often necessitate treatment discontinuation. However, the specific changes in skin parameters resulting from anti-EGFR antibody drug administration are poorly understood. Therefore, this study aimed to longitudinally and quantitatively evaluate the changes in skin parameters (transepidermal water loss [TEWL], hydration level, and sebum level) caused by anti-EGFR antibody drugs and investigate their potential as control markers for skin disorders.

Does the Act on the Safety of Regenerative Medicine in Japan ensure "safety"?: Implications of low adverse event reporting.

Public document analysis reveals that the adverse events reported for therapeutic administration under the Act on the Safety of Regenerative Medicine (ASRM) in Japan are substantially fewer than those under the Pharmaceuticals and Medical Devices Act. This study highlights the flawed reporting mechanisms and unmet legislative intentions of the ASRM.

A CAMK2B variant associated with tetralogy of Fallot, developmental delay, and growth retardation.

CAMK2B encodes the beta-subunit of calcium/calmodulin-dependent protein kinase II (CAMKII), which is expressed mainly in the brain. Variants of CAMK2A and CAMK2B cause neurodevelopmental disorders, and CAMK2B alterations have been described in at least 14 patients with intellectual disability and developmental delay. Here, we describe a novel CAMK2B variant in a patient with tetralogy of Fallot (TOF), developmental delay, and growth retardation.

Enhancing scientific transparency in national CO emissions reports via satellite-based a posteriori estimates.

Biennial Update Reports (BURs) are essential requirements from the United Nations Framework Convention on Climate Change (UNFCCC). However, many non-Annex I countries have not submitted these reports due to difficulties in compiling the inventories. We developed a satellite-based method for the top-down inverse estimation of CO emissions using partial-column data in the lower troposphere obtained by the Greenhouse Gases Observing Satellite, adopted to validate the Mongolian 2 BUR (BUR2) for the energy sector in 2018.

A Japanese patient with Teebi hypertelorism syndrome and a novel CDH11 EC1 domain variant.

The gene CDH11 encodes cadherin-11, a Type II cadherin superfamily member that contains five extracellular cadherin (EC) domains. Cadherin-11 undergoes trans-dimerization via the EC1 domain to generate cadherin complexes. Compound heterozygous and homozygous loss-of-function CDH11 variants are observed in Elsahy-Waters syndrome (EWS), which shows characteristic craniofacial features, vertebral abnormalities, cutaneous syndactyly in 2-3 digits, genitourinary anomalies, and intellectual disability.

Long-Term Analysis of Internal Exposure Dose-Reduction Effects by Food Regulation and Food Item Contribution to Dose after the Fukushima Daiichi Nuclear Power Plant Accident.

Over 10 years have passed since the Fukushima Daiichi Nuclear Power Plant accident. This study verifies the efficacy of longitudinal regulation on internal exposure doses and analyzes food group contributions to radiation doses using accumulated monitoring test results. The committed effective doses in 10,000 virtual persons from fiscal year (FY) 2012 to 2021, with and without regulation, were estimated as products of radioactivity concentrations randomly sampled from the test results, food intake, and dose coefficient.

Assessing the costs of GHG emissions of multi-product agricultural systems in Vietnam.

Besides a vital sector of the economy, agriculture is a primary source of greenhouse gas (GHG) emissions. The present paper investigates the impact of carbon tax policy on Vietnamese agriculture by focusing on multi-product systems such as rice, livestock, and aquaculture, traditionally called the Vuon (Garden)-Ao (Pond)-Chuong (livestock pen) system (VAC). In it, farmers use garden, pond, and pen by-products as fertilizer and feed.

Effect of risk factors for acneiform rash induced by anti-epidermal growth factor receptor antibody drugs on survival: a retrospective observational study.

Background: We previously reported that high body weight was a risk factor affecting the onset of anti-epidermal growth factor receptor (EGFR) antibody drug-induced acneiform rash. The current study investigated the relationship between risk factors for anti-EGFR antibody drug-induced acneiform rash and survival probability in colorectal cancer patients, as well as effects of drug withdrawal, dose reduction, or treatment discontinuation on treatment continuation.

Methods: This retrospective study included 67 patients with unresectable advanced or recurrent colorectal cancer treated with anti-EGFR antibody drugs for the first time.

Higher proportions of a healthy gastric mucosa in healthy Japanese adults with later birth year: analysis of 41 957 participants.

Background: In Japan, most gastric cancers are associated with gastric mucosal atrophy caused by chronic infection with Helicobacter pylori (H. pylori). Recognizing the condition of the gastric mucosa and determining the infection status of H.

Longitudinal Verification of Post-Nuclear Accident Food Regulations in Japan Focusing on Wild Vegetables.

Focusing on the importance of wild vegetables for local residents, this study aims to validate the effects of food regulations under the current criteria (e.g., 100 Bq/kg for general foods) established approximately a year after the Fukushima Dai-ichi Nuclear Power Plant accident.