A comprehensive approach for identifying filaggrin mutations and copy number variants by long-read sequencing.

Filaggrin (FLG) is essential for skin barrier function, but has highly diverse and complex mutations linked to various allergic and dermatological diseases. Current genotyping methods often fail to capture the full range of FLG variants, especially in regions with high sequence homology. To overcome this limitation, we developed a singleplex PCR method that amplifies FLG exon 3 using FLG-specific primers tailed with barcodes for sample identification, followed by long-read sequencing on the PacBio Sequel IIe system.

The fetal brain neurosonography in trisomy 21: the seagull sign and thinned subplate.

Background: Down syndrome, first systematically characterized by John Langdon Down in 1866 and later identified as trisomy 21 by Jérôme Lejeune in 1959, has seen dramatic improvements in life expectancy due to advances in medical care and social support. Despite this progress and the National Institutes of Health's INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE project's focus on Down syndrome research, prenatal diagnosis remains largely binary-positive or negative for trisomy 21-without capturing the wide phenotypic variability that characterizes this condition. Advanced neuroimaging techniques may provide insights into the neuroanatomical basis of this variability.

Electrochemical Deposition of Fe/FeOOH Nanoforest Catalyst: Growth Mechanism and Structural Self-Optimization.

Hierarchical nanostructures provide a platform to build functional materials. Here, we report a one-step electrochemical deposition of Fe/FeOOH nanoforests, where tree-like three-dimensional (3D) architectures comprising one-dimensional (1D) metallic Fe branches and two-dimensional (2D) FeOOH leaves are uniformly and densely grown on the substrate to form a forest-like assembly. Detailed microscopic observations reveal that the hierarchical structure is organized through the multidimensional oriented attachment of FeOOH nuclei, followed by the internal reduction to Fe nanowires.

Characterization of microbial diversity and eosinophilic otitis media biomarkers using next-generation sequencing.

Objective: Eosinophilic otitis media (EOM) is a chronic eosinophilic inflammatory disease linked to bronchial asthma and nasal polyps. EOM is often accompanied by tympanic membrane perforation. Although the primary treatment, steroid therapy, is generally effective, its efficacy may be limited in advanced cases, particularly those involving significant thickening of the middle ear mucosa.

Fetal 24-Segment Sphericity Index and Ventricular Fractional Shortening Between 12 and 20 Weeks of Gestation.

Background: Although the fetal sphericity index (SI) and fractional shortening (FS) of 24 transverse segments have been previously reported after the 20th gestational week, there have been no reports during the first and early second trimester.

Objective: This study aimed to clarify the SI and FS of 24 transverse segments in normal fetuses before the 20th gestational week.

Methods: A total of 101 normal fetuses aged between 12 and 20 gestational weeks were examined.

Gut microbiota of one-and-a-half-year-old food-allergic and healthy children.

Background: Intestinal bacteria may play a role in the development of food allergies. This study aimed to analyze and compare the gut microbiota of food-allergic children with that of healthy children of the same age.

Methods: Stool samples were collected from one-and-a-half-year-old food-allergic (FA group, n = 29) and healthy controls (HC group, n = 19).

Relationship between elevated bilirubin levels and enhanced warfarin effects during biliary obstruction.

Objectives: A marked prolongation of the prothrombin time-international normalized ratio (PT-INR) is frequently observed during biliary obstruction in patients using warfarin. The objective of this study was to identify factors associated with PT-INR prolongation during biliary obstruction in patients using warfarin.

Methods: Among 44 patients using warfarin who had biliary obstruction, we retrospectively investigated warfarin doses and laboratory data before and during biliary obstruction.

Methylthioacetic acid, a derivative of aroma compounds from Cucumis melo var. conomon dose-dependently triggers differentiation and apoptosis of RCM-1 human colorectal cancer cells.

Methylthioacetic acid (MTA) is an acid-hydrolyzed derivative of a natural aroma compound, methylthioacetic acid ethyl ester isolated from Cucumis melo var. conomon (Katsura-uri, Japanese Picking Melon), and induces a villiform-like structure dome in RCM-1 human colorectal cancer cell culture. Thus far, the physiological and molecular properties of MTA-mediated dome formation remain unknown.

Cat-Ear-Line: A Sonographic Sign of Cortical Development?

Objectives: Diagonal echogenic lines outside the lateral ventricle have often been observed in the anterior coronal planes of the normal fetal brain by neurosonography. We have observed abnormal shapes of these echogenic lines in cases of malformation of cortical development (MCD). We named the ultrasound finding "cat-ear-line" (CEL).

Behavior and possible function of BES1/BZR1 homolog 2 in brassinosteroid signaling.

Two key transcription factors (TFs) in brassinosteroid (BR) signaling BRASSINOSTEROID INSENSITIVE 1-EMS-SUPPRESSOR 1 (BES1) and BRASSINAZOLE RESISTANT 1 (BZR1), belong to a small family with four BES1/BZR1 homologs (BEH1-4). To date, in contrast to the wealth of knowledge regarding BES1 and BZR1, little is known about BEH1-4. Here, we show that was expressed preferentially in the roots and leaf margins including serrations, which was quite different from another member , and that BRs downregulated through a module containing GSK3-like kinases and BES1/BZR1 TFs, among which BES1, rather than BZR1, contributed to this process.

Oral antibiotics and a low-residue diet reduce the incidence of anastomotic leakage after left-sided colorectal surgery: a retrospective cohort study.

Purpose: Anastomotic leakage is a potential complication after colorectal surgery. We investigated the effects of oral antibiotics and a low-residue diet on the incidence of anastomotic leakage after left-sided colorectal surgery.

Methods: Outcomes were retrospectively compared between 64 patients who underwent mechanical bowel preparation alone (group A) and 183 patients who underwent mechanical bowel preparation with addition of oral kanamycin and metronidazole (group B) on the day before left-sided colorectal surgery.

Clinical Validation of Fetal cfDNA Analysis Using Rolling-Circle-Replication and Imaging Technology in Osaka (CRITO Study).

Background: Noninvasive prenatal genetic testing (NIPT) has been adopted as the first choice for aneuploidy screening. The purposes of this study were to investigate the accuracy of Vanadis NIPT (hereafter CRITO-NIPT) in order to gain a deeper insight into the reasons for discrepancies, as well as to discuss the role of fetal ultrasound.

Methods: Between 2019 and 2020, CRITO-NIPT was performed in 1218 cases of patients who underwent CVS or amniocentesis after a detailed fetal ultrasound exam and genetic counseling.

[Questionnaire Survey of Pharmacy Students regarding Long-term In-hospital Practical Training: 8 Years of Changes].

In 2010, the in-hospital practical training period for pharmacy students was extended from 4 to 11 weeks. We have conducted questionnaire surveys of these students every year with the aim of reviewing the quality of training by conduction of surveys and evaluations. However, it was not clear whether reviewing based on the questionnaire results improved student satisfaction with the in-hospital practical training.

[Evaluation of the Usefulness of Postoperative Analgesic Solution Preparation by Pharmacists in the Surgical Department].

Pharmacists began preparing drug solutions intraoperatively for postoperative analgesia in the Department of Surgery at Chiba University Hospital from May 2014. To verify the usefulness of pharmacists preparing these drug solutions, we conducted a questionnaire survey among 51 anesthesiologists and received 44 responses (recovery rate 86.3%).

Usability assessment of drug-linking laboratory data listed on prescriptions for outpatients of chiba university hospital.

To evaluate the impact of pharmacotherapy on efficacy and safety by providing laboratory data information linked to medicines on outpatient prescriptions from the hospital to the community pharmacy. Beginning on October 28, 2014, standardized laboratory data and drug-linking laboratory data were included with outpatient prescriptions at our hospital. We have created a database of drug-linking laboratory data for all drugs that can be prescribed in Japan.

Analysis of patients' request to switch from a generic drug to the original drug in external prescriptions.

Background: Generic drugs are heavily promoted in Japan. The aim of this retrospective single-center study was to clarify whether the frequency and reason that patients request a switch from a generic drug to the original drug differ according to therapeutic category and dosage form.

Methods: This study was performed at Chiba University Hospital.

Neoantigen prediction in human breast cancer using RNA sequencing data.

Neoantigens have attracted attention as biomarkers or therapeutic targets. However, accurate prediction of neoantigens is still challenging, especially in terms of its accuracy and cost. Variant detection using RNA sequencing (RNA-seq) data has been reported to be a low-accuracy but cost-effective tool, but the feasibility of RNA-seq data for neoantigen prediction has not been fully examined.

Chemical and molecular bases of dome formation in human colorectal cancer cells mediated by sulphur compounds from Cucumis melo var. conomon.

Colorectal cancer was the third most commonly diagnosed malignant tumor and the fourth leading cause of cancer deaths worldwide in 2012. A human colorectal cancer cell line, RCM-1, was established from a colon cancer tissue diagnosed as a well-differentiated rectum adenocarcinoma. RCM-1 cells spontaneously form 'domes' (formerly designated 'ducts') resembling villiform structures.

Investigation on the Epoxidation of Piperitenone, and Structure-activity Relationships of Piperitenone Oxide for Differentiation-inducing Activity.

Piperitenone oxide, a major chemical constituent of the essential oil of spearmint, Mentha spicata, induces differentiation in human colon cancer RCM-1 cells. In this study, piperitenone oxide and trans-piperitenone dioxide were prepared as racemic forms by epoxidation of piperitenone. The relative configuration between two epoxides in piperitenone dioxide was determined to be trans by H NMR analysis and nuclear Overhauser effect spectroscopy (NOESY) in conjunction with density functional theory (DFT) calculations.

Contribution of Katsura-uri (Japan's Heirloom Pickling Melon, Cucumis melo var. conomon) at the Completely Ripe Stage to Diabetes Control.

The fruit of Katsura-uri (Japan's heirloom pickling melon, Cucumis melo var. conomon) possesses a fruity aroma and moderate sweetness. The fruit juice has potential to minimize human postprandial blood glucose levels.