Genotype and X-chromosome inactivation are associated with disease severity in females with X-linked Alport syndrome.

Background And Hypothesis: Male patients with X-linked Alport syndrome (XLAS) generally develop end-stage kidney disease in early or middle adulthood and show distinct genotype-phenotype correlations. Female patients, however, show various phenotypes ranging from asymptomatic to severe with no genotype-phenotype correlations. However, the factors affecting the severity of XLAS in female patients are unclear.

Patient of Congenital Absence of a Lumbar Pedicle With Nerve Root Anomaly Presenting With Ipsilateral Foraminal Stenosis by Vertebral Fracture.

Patients with congenital absence of a lumbar pedicle and nerve root anomaly presenting with ipsilateral foraminal stenosis are extremely rare. An 80-year-old man had low back and right thigh pain. Radiographs and computed tomography (CT) showed L3 vertebral body fracture and the absence of the right L3 lumbar pedicle.

Association of Finger Tapping Movements with Frailty Status in older Japanese Adults: A Cross-Sectional Study.

Background: Finger tapping impairment and frailty share overlapping pathophysiology and symptoms in older adults, however, the relationship between each other has not been previously studied.

Objectives: To investigate how finger tapping movements correlate with frail status in older Japanese adults.

Design, Setting, And Participants: Data were from a cross-sectional study called the Cognition and Activity in Rural Environment of Hokkaido Senior Survey 2018.

Improved survival outcome of curative liver resection for Barcelona Clinic Liver Cancer stage C hepatocellular carcinoma in the era of tyrosine kinase inhibitors.

Aim: This study was undertaken to evaluate the outcome of curative liver resection, (LR) of Barcelona Clinic Liver Cancer stage C hepatocellular carcinoma (BCLC-C HCC) after tyrosine kinase inhibitors (TKIs) became approved as a treatment option for recurrent lesions.

Methods: Sixty-seven patients with BCLC-C HCC who underwent curative LR were enrolled in this study. The patients were classified into two groups according to whether LR was performed before (n = 24) or after (n = 43) TKI approval ("beforeTKI" and "afterTKI" group, respectively).

Efficacy and safety of oral semaglutide in older patients with type 2 diabetes: a retrospective observational study (the OTARU-SEMA study).

Background: Oral semaglutide in older subjects with type 2 diabetes was as effective as in younger subjects, according to phase 3 clinical trials. However, its efficacy can be limited in very aged population, due to the presence of impaired cognitive function and the complex instructions for its use. Here, we investigated its efficacy and safety by further age bracket in older subjects in real-world.

A novel method for measurements of sleep/wake states, feeding and drinking behaviors using the tracking technique of 3D positions in freely moving mice.

We have previously developed a 3D video tracking system which enables us to analyze long-term quantitative analysis of gene expression in freely moving mice. In the present study, we improved 3D video tracking and developed a system that analyzes more detailed behavioral data. We succeeded in simultaneously analyzing sleep-wake, feeding, and drinking behavior rhythms in the same individual using our tracking system.

Ectopic burst induced by blockade of axonal potassium channels on the mouse hippocampal mossy fiber.

A potassium channel blocker 4-AP has been shown to exert pronounced convulsive action to generate burst firings when applied to hippocampal slices. However, it remains unclear how the blockade of potassium channels leads to the generation of burst firings. One possibility is ectopic spiking from the sites different from those for physiological spike initiation at the axon initial segment, as suggested for several experimental models of epileptogenesis .

Adipsic hypernatremia with marked hyperprolactinemia and GH deficiency in a 9-year-old boy.

Adipsic hypernatremia is typically caused by congenital dysplasia of the hypothalamus and pituitary or brain tumors. However, cases of adipsic hypernatremia without underlying organic abnormalities are rare, and some cases have been reported to be complicated by hypothalamic-pituitary dysfunction. The patient in this case was a 9-yr-old boy who was referred to our hospital because of hypernatremia.

and variants in a boy with ambiguous genitalia, short stature, and non-specific dysmorphic features.

Noonan syndrome is a congenital disorder characterized by distinctive facial appearance, congenital heart defects, short stature, and skeletal dysplasia. Although boys with Noonan syndrome frequently exhibit cryptorchidism, a mild form of 46,XY disorders of sex development (DSD), they barely manifest more severe genital abnormalities. Here, we report a boy with ambiguous genitalia, short stature, and non-specific dysmorphic features.

Predictors of Persistent Postoperative Numbness Following Lumbar Fusion in Patients Older Than 75 Years: A Minimum 2-Year Follow-up.

Objective: To evaluate the preoperative and perioperative predictors of persistent leg numbness following lumbar fusion in patients aged ≥ 75 years.

Methods: This single-center retrospective study examined 304 patients aged ≥ 75 years who underwent lumbar fusion for lumbar degenerative disease (102 men, 202 women; mean age, 79.2 [75-90] years).

[Fluorescence microscopy for brain activity imaging: one-photon microscopy and its application to pharmacological research].

The development of genetically-encoded fluorescent probes for the detection of intracellular calcium ions and various neurotransmitters has progressed significantly in recent years, and there is a growing need for techniques that rapidly and efficiently image these signals in the living brain for pharmacological studies of the central nervous system. In this article, we discuss one-photon fluorescence microscopy techniques used for brain activity imaging, particularly wide-field imaging and head-mounted miniaturized microscopy, and introduce their basic principles, recent advances, and applications in pharmacological research. Wide-field calcium imaging is suitable for mesoscopic observation of cortical activity during behavioral tasks in head-fixed awake mice, while head-mounted miniaturized microscopes can be attached to the animal's head to image brain activity associated with naturalistic behaviors such as social behavior and sleep.

Effect of empagliflozin on ventricular arrhythmias in patients with type 2 diabetes treated with an implantable cardioverter-defibrillator: the EMPA-ICD trial.

Background: Sodium-glucose cotransporter 2 (SGLT2) inhibitors reduce the risk of hospitalization for heart failure and cardiovascular death with type 2 diabetes; however, their effect on arrhythmias is unclear. The purpose of this study was to investigate the effects of empagliflozin on ventricular arrhythmias in patients with type 2 diabetes.

Methods: A total of 150 patients with type 2 diabetes who were treated with an implantable cardioverter-defibrillator or cardiac resynchronization therapy defibrillator (ICD/CRT-D) were randomized to once-daily empagliflozin or placebo for 24 weeks.

Epigenetic regulation of major histocompatibility complexes in gastrointestinal malignancies and the potential for clinical interception.

Background: Gastrointestinal malignancies encompass a diverse group of cancers that pose significant challenges to global health. The major histocompatibility complex (MHC) plays a pivotal role in immune surveillance, orchestrating the recognition and elimination of tumor cells by the immune system. However, the intricate regulation of MHC gene expression is susceptible to dynamic epigenetic modification, which can influence functionality and pathological outcomes.