Scleral bridging technique for preventing PreserFlo microshunt exposure: A case report.

Introduction: The use of the PreserFlo microshunt is gaining popularity owing to its ease of implantation and reduced need for postoperative intervention compared to conventional trabeculectomy.

Patient Concerns: However, microshunt exposure remains a severe complication of PreserFlo surgery, particularly in patients with a thin Tenon capsule and conjunctiva. However, the actual thickness and intensity of the Tenon capsule or conjunctiva can be confirmed only during surgery.

17α-hydroxylase/17,20-lyase Deficiency Diagnosed at 45 Years of Age with Hyperaldosteronism.

17α-hydroxylase deficiency is a type of congenital adrenocortical hyperplasia that is typically diagnosed in childhood or adolescence. It manifests as hypertension with gonadal dysfunction as the primary symptom. We herein report 17α-hydroxylase/17,20-lyase deficiency (17OHD) diagnosed at the age of 45 years.

A novel -Gsα splice donor site variant in a girl with pseudohypoparathyroidism type 1A and her mother with pseudopseudohypoparathyroidism.

We encountered a Chinese girl with pseudohypoparathyroidism type 1A (PHP1A) and her mother with pseudopseudohypoparathyroidism (PPHP). Sequencing analysis of -Gsα revealed a heterozygous c.212+2T>C variant (NM_000516.

Effective growth hormone replacement with once-weekly somapacitan in Japanese children with growth hormone deficiency: Results from REAL4, a phase 3 clinical trial.

Objective: Somapacitan is a long-acting growth hormone (GH) derivative developed for the treatment of GH deficiency (GHD). This study evaluates the efficacy and tolerability of somapacitan in Japanese children with GHD after 104 weeks of treatment and after switch from daily GH.

Design: Subanalysis on Japanese patients from a randomised, open-labelled, controlled parallel-group phase 3 trial (REAL4, NCT03811535).

Surgery for long tubular intestinal duplication with massive hemorrhage: a case report and literature review.

Background: Long tubular duplication is a rare congenital intestinal disease, that can lead to emergency situations marked by massive hemorrhage. However, preoperative diagnosis and surgical treatment are challenging. This report presents preoperative images and details a surgical procedure for long tubular intestinal duplications with massive hemorrhage.

Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literature.

We report three Japanese patients with Sotos syndrome accompanied by marked overgrowth, i.e., a 2 8/12-year-old boy with a height of 105.

Safety and accuracy of neonatal continuous glucose monitoring.

Background: Hypoglycemia is a significant problem for all neonates and requires minimally invasive and reliable monitoring. The primary objective of this study was to verify the safety and accuracy of the continuous glucose monitoring (CGM) of full-term neonates using Freestyle Libre, a flash glucose monitoring (FGM) device.

Methods: The study was conducted on 20 neonates.

Multiple TP53 p.R337H haplotypes and implications for tumor susceptibility.

The germline TP53 p.R337H mutation is reported as the most common germline TP53 variant. It exists at a remarkably high frequency in the population of southeast Brazil as founder mutation in two distinct haplotypes with the most frequent co-segregating with the p.

Serum steroid metabolite profiling by LC-MS/MS in two phenotypic male patients with HSD17B3 deficiency: Implications for hormonal diagnosis.

Although 17β-hydroxysteroid dehydrogenase type 3 (HSD17B3) deficiency is diagnosed when a testosterone/androstenedione (T/A-dione) ratio after human chorionic gonadotropin (hCG) stimulation is below 0.8, this cut-off value is primarily based on hormonal data measured by conventional immunoassay (IA) in patients with feminized or ambiguous genitalia. We examined two 46,XY Japanese patients with undermasculinized genitalia including hypospadias (patient 1 and patient 2).

Microdeletion at ESR1 Intron 6 (DEL_6_75504) Is a Susceptibility Factor for Cryptorchidism and Hypospadias.

Context: We have previously reported that a specific "AGATC" haplotype in a >34 kb tight linkage disequilibrium (LD) block within ESR1 is strongly associated with cryptorchidism and hypospadias in Japanese boys.

Objective: We aimed to determine the true susceptibility factor for cryptorchidism and hypospadias linked to the "AGATC" haplotype.

Methods: We performed various molecular studies in hitherto unreported 230 Italian boys (80 with cryptorchidism and 150 with normal genitalia) and previously reported and newly recruited 415 Japanese boys (149 with cryptorchidism, 141 with hypospadias, and 125 with normal genitalia).

Validation of a convolutional neural network for the automated creation of curved planar reconstruction images along the main pancreatic duct.

Purpose: To evaluate the accuracy and time-efficiency of newly developed software in automatically creating curved planar reconstruction (CPR) images along the main pancreatic duct (MPD), which was developed based on a 3-dimensional convolutional neural network, and compare them with those of conventional manually generated CPR ones.

Materials And Methods: A total of 100 consecutive patients with MPD dilatation (≥ 3 mm) who underwent contrast-enhanced computed tomography between February 2021 and July 2021 were included in the study. Two radiologists independently performed blinded qualitative analysis of automated and manually created CPR images.

Development of a classification method for mild liver fibrosis using non-contrast CT image.

Purpose: Detection of early-stage liver fibrosis has direct clinical implications on patient management and treatment. The aim of this paper is to develop a non-invasive, cost-effective method for classifying liver disease between "non-fibrosis" (F0) and "fibrosis" (F1-F4), and to evaluate the classification performance quantitatively.

Methods: Image data from 75 patients who underwent a simultaneous liver biopsy and non-contrast CT examination were used for this study.

Combined pituitary hormone deficiency in a patient with an missense variant: case report and literature review.

Recent studies have indicated that heterozygous loss-of-function variants in fibroblast growth factor receptor 1 () are involved in the development of congenital hypogonadotropic hypogonadism and combined pituitary hormone deficiency (CPHD). We encountered a Japanese boy with short stature and pubertal failure. Endocrine studies showed GH, TSH, and LH/FSH deficiencies, and brain magnetic resonance imaging delineated hypoplastic anterior pituitary and ectopic posterior pituitary.

Comparison of lung CT number and airway dimension evaluation capabilities of ultra-high-resolution CT, using different scan modes and reconstruction methods including deep learning reconstruction, with those of multi-detector CT in a QIBA phantom study.

Objective: Ultra-high-resolution CT (UHR-CT), which can be applied normal resolution (NR), high-resolution (HR), and super-high-resolution (SHR) modes, has become available as in conjunction with multi-detector CT (MDCT). Moreover, deep learning reconstruction (DLR) method, as well as filtered back projection (FBP), hybrid-type iterative reconstruction (IR), and model-based IR methods, has been clinically used. The purpose of this study was to directly compare lung CT number and airway dimension evaluation capabilities of UHR-CT using different scan modes with those of MDCT with different reconstruction methods as investigated in a lung density and airway phantom design recommended by QIBA.

ACAN biallelic variants in a girl with severe idiopathic short stature.

Although ACAN heterozygous loss-of-function variants often cause idiopathic short stature (ISS) phenotype, there is no report describing ISS phenotype caused by ACAN biallelic loss-of-function variants. We encountered a 4 1/12-year-old Japanese girl with a height of 80.4 cm (-5.

Intrauterine Hyponutrition Reduces Fetal Testosterone Production and Postnatal Sperm Count in the Mouse.

Background: Although intrauterine hyponutrition is regarded as a risk factor for the development of "testicular dysgenesis syndrome" (TDS) in the human, underlying mechanism(s) remain largely unknown.

Methods: To clarify the underlying mechanism(s), we fed vaginal plug-positive C57BL/6N female mice with regular food ad libitum throughout the pregnant course (control females) (C-females) or with 50% of the mean daily intake of the C-females from 6.5 dpc (calorie-restricted females) (R-females), and compared male reproductive findings between 17.

Machine learning for lung texture analysis on thin-section CT: Capability for assessments of disease severity and therapeutic effect for connective tissue disease patients in comparison with expert panel evaluations.

Background: The need for quantitative assessment of interstitial lung involvement on thin-section computed tomography (CT) has arisen in interstitial lung diseases including connective tissue disease (CTD).

Purpose: To evaluate the capability of machine learning (ML)-based CT texture analysis for disease severity and treatment response assessments in comparison with qualitatively assessed thin-section CT for patients with CTD.

Material And Methods: A total of 149 patients with CTD-related ILD (CTD-ILD) underwent initial and follow-up CT scans (total 364 paired serial CT examinations), pulmonary function tests, and serum KL-6 level tests.

Combined Use of Texture Features and Morphological Classification Based on Dynamic Contrast-enhanced MR Imaging: Differentiating Benign and Malignant Breast Masses with High Negative Predictive Value.

Purpose: We evaluated the diagnostic performance of the texture features of dynamic contrast-enhanced (DCE) MRI for breast cancer diagnosis in which the discriminator was optimized, so that the specificity was maximized via the restriction of the negative predictive value (NPV) to greater than 98%.

Methods: Histologically proven benign and malignant mass lesions of DCE MRI were enrolled retrospectively. Training and testing sets consist of 166 masses (49 benign, 117 malignant) and 50 masses (15 benign, 35 malignant), respectively.

Measurement of Reverse Triiodothyronine Level and the Triiodothyronine to Reverse Triiodothyronine Ratio in Dried Blood Spot Samples at Birth May Facilitate Early Detection of Monocarboxylate Transporter 8 Deficiency.

Monocarboxylate transporter 8 (MCT8) deficiency is an X-chromosome-linked neurodevelopmental disorder resulting from impaired thyroid hormone transport across the cell membrane. The diagnosis of MCT8 deficiency is typically delayed owing to the late appearance of signs and symptoms as well as the inability of standard biomarkers of neonatal screening to provide early detection. In this study, we report, for the first time, the ability to detect MCT8 deficiency at birth using dried blood spot (DBS) samples.