Background: Mesalamine is the first-line drug for treating mild-to-moderate ulcerative colitis (UC); however, some patients develop symptoms of intolerance. Although several desensitization methods have been reported, these desensitization regimens were rather complicated for physicians to prescribe in daily clinical practice; therefore, it has not yet become a major therapeutic option for intolerance patients. Thus, we developed an alternative desensitization protocol.
View Article and Find Full Text PDFTransmembrane protein 106B (TMEM106B), which is a type II transmembrane protein, is believed to be involved in intracellular dynamics and morphogenesis in the lysosome. TMEM106B is known to be a risk factor for frontotemporal lobar degeneration and has been recently identified as the receptor needed for the entry of SARS-CoV-2, independently of angiotensin-converting enzyme 2 (ACE2). A missense mutation, p.
View Article and Find Full Text PDFPurpose: To evaluate the changes in choroidal thickness 1 year after half-dose photodynamic therapy (PDT) for central serous chorioretinopathy (CSC) using widefield swept-source optical coherence tomography.
Methods: We retrospectively reviewed 21 patients with CSC who unilaterally underwent half-dose PDT and completed a 12-month follow-up. Choroidal thickness was evaluated before and after PDT within an 18-mm circular grid centered on the fovea subdivided into nine areas in the treated and untreated fellow eyes.
Purpose: To evaluate the association between scleral thickness and a newly developed multimodal imaging-based classification of central serous chorioretinopathy (CSC).
Design: Retrospective, cross-sectional study.
Methods: This study included 217 eyes of 217 patients classified as simple or complex CSC based on the established protocols.
Invest Ophthalmol Vis Sci
January 2023
Purpose: Central serous chorioretinopathy (CSC) is a retinal disorder characterized by serous retinal detachment with or without pigment epithelial detachment in the posterior pole of the eye. We aimed to elucidate the relationship between scleral thickness and choroidal structure in CSC eyes.
Methods: This single-center retrospective study included 111 eyes of 111 CSC patients.
Hypomyelinating leukodystrophy 10 (HLD10) is an autosomal recessive disease related to myelin sheaths in the central nervous system (CNS). In the CNS, myelin sheaths are derived from differentiated plasma membranes of oligodendrocytes (oligodendroglial cells) and surround neuronal axons to achieve neuronal functions. Nucleotide mutations of the pyrroline-5-carboxylate reductase 2 (PYCR2) gene are associated with HLD10, likely due to PYCR2's loss-of-function.
View Article and Find Full Text PDFPurpose: To evaluate and compare the scleral thickness of patients with idiopathic central serous chorioretinopathy (iCSC) and steroid-induced central serous chorioretinopathy (sCSC) using anterior-segment OCT.
Design: Retrospective, comparative study.
Participants: One hundred ten eyes of 110 patients with central serous chorioretinopathy.
Purpose: To investigate the clinical and morphologic factors related to asymmetric dilated vortex veins in central serous chorioretinopathy (CSC).
Design: Retrospective, comparative study.
Participants: One hundred fifty-eight eyes of 158 patients with CSC.
The frequency-doubling technology (FDT) screening test (FDT-C-20-1) has adopted in many recent population-based glaucoma surveys, but factors associated with false-positive (FP) responses to FDT-C-20-1 in normal eyes and false-negative (FN) responses in glaucoma eyes were not known. These factors were investigated in a population-based setting using the data from 3805 normal eyes (2381 subjects) and 272 eyes with definite glaucoma (215 subjects) in the Kumejima Study participants with reliable FDT-C-20-1 results. Considering the presence of at least one abnormal test point (P < 0.
View Article and Find Full Text PDFHereditary peripheral neuropathies called Charcot-Marie-Tooth (CMT) disease affect the sensory nerves as well as motor neurons. CMT diseases are composed of a heterogeneous group of diseases. They are characterized by symptoms such as muscle weakness and wasting.
View Article and Find Full Text PDFPOLR3B and POLR3A are the major subunits of RNA polymerase III, which synthesizes non-coding RNAs such as tRNAs and rRNAs. Nucleotide mutations of the RNA polymerase 3 subunit b (polr3b) gene are responsible for hypomyelinating leukodystrophy 8 (HLD8), which is an autosomal recessive oligodendroglial cell disease. Despite the important association between POLR3B mutation and HLD8, it remains unclear how mutated POLR3B proteins cause oligodendroglial cell abnormalities.
View Article and Find Full Text PDFBackground And Aim: Few studies have evaluated risk factors for short-term re-bleeding in patients with colonic diverticular bleeding (CDB). We aimed to reveal risk factors for re-bleeding within a month in patients with CDB.
Methods: We retrospectively analyzed clinical course of patients with CDB diagnosed at 10 institutions between 2015 and 2019.
Hypomyelinating leukodystrophy 7 (HLD7) is an autosomal recessive oligodendroglial cell-related myelin disease, which is associated with some nucleotide mutations of the RNA polymerase 3 subunit a (polr3a) gene. POLR3A is composed of the catalytic core of RNA polymerase III synthesizing non-coding RNAs, such as rRNA and tRNA. Here, we show that an HLD7-associated nonsense mutation of Arg140-to-Ter (R140X) primarily localizes POLR3A proteins as protein aggregates into lysosomes in mouse oligodendroglial FBD-102b cells, whereas the wild type proteins are not localized in lysosomes.
View Article and Find Full Text PDFPurpose: To investigate the prevalence of ciliochoroidal effusion (CE) in central serous chorioretinopathy (CSC) using anterior-segment optical coherence tomography and its association with the clinical features of CSC.
Methods: Overall, 164 eyes of 164 patients with CSC and 51 eyes of 51 age- and sex-matched normal control participants were retrospectively examined. Anterior-segment optical coherence tomography was used to assess patients with CSC and control subjects for CE and scleral thickness.
Prcis: The inferior>superior>temporal rim width rate (IST pattern) rather than inferior≥superior≥nasal≥temporal (ISNT) pattern was suited for screening glaucoma in Japanese subjects. Failure of the IST pattern was associated with several important risk factors for glaucoma.
Purpose: The purpose of this study was to find a rim width rate pattern to yield the highest positive likelihood ratio (LR+) in detecting glaucoma eyes and to identify risk factors for glaucoma correlating with its failure in a population-based setting.
Purpose: To elucidate clinical factors related to the presence of loculation of fluid (LOF) in the posterior choroid in central serous chorioretinopathy (CSC).
Design: Retrospective, cross-sectional study.
Methods: This single-center study included 158 eyes from 158 patients with CSC who were classified into LOF and non-LOF groups.
Hypomyelinating leukodystrophy 17 is an autosomal recessive disease affecting myelin-forming oligodendroglial cells in the central nervous system. The gene responsible for HLD17 encodes aminoacyl-tRNA synthase complex-interacting multifunctional protein 2, whose product proteins form a scaffold that supports aminoacyl-tRNA synthetases throughout the cell body. Here we show that the HLD17-associated nonsense mutation (Tyr35-to-Ter [Y35X]) of AIMP2 localizes AIMP2 proteins as aggregates into the Golgi bodies in mouse oligodendroglial FBD-102b cells.
View Article and Find Full Text PDFPurpose: To study and compare factors contributing to the differentiation between diagnosed and undiagnosed primary angle-closure glaucoma (PACG) and primary open-angle glaucoma (POAG) in the same population.
Design: Population-based survey.
Participants: All residents 40 years of age and older in Kumejima, Japan.
Purpose: Truck drivers with insomnia are at a high risk of traffic accidents. We aimed to investigate the prevalence of insomnia and identify its associated factors among truck drivers in Japan.
Methods: Participants were 2927 male truck drivers younger than 65 years old.
Pelizaeus-Merzbacher disease (PMD), also known as hypomyelinating leukodystrophy 1 (HLD1), is an X-linked recessive disease affecting in the central nervous system (CNS). The gene responsible for HLD1 encodes proteolipid protein 1 (plp1), which is the major myelin structural protein produced by oligodendroglial cells (oligodendrocytes). HLD15 is an autosomal recessive disease affecting the glutamyl-prolyl-aminoacyl-tRNA synthetase 1 () gene, whose product, the EPRS1 protein, is a bifunctional aminoacyl-tRNA synthetase that is localized throughout cell bodies and that catalyzes the aminoacylation of glutamic acid and proline tRNA species.
View Article and Find Full Text PDFGenetic hypomyelinating diseases are a heterogeneous group of disorders involving the white matter. One infantile hypomyelinating leukoencephalopathy is associated with the homozygous variant (Cys4-to-Ser (C4S)) of the 3 gene. We observed that in mouse oligodendroglial FBD-102b cells, the C4S mutant proteins but not the wild type ones of C11orf73 are microscopically localized in the lysosome.
View Article and Find Full Text PDFPurpose: To evaluate association of the van Herick (VH) grades with the ultrasound biomicroscopic (UBM) parameters, appositional irido-trabecular contact (A-ITC) and plateau iris (PI) in a randomly sampled population.
Methods: A 10% random sample of all residents aged 40 or older of the Kumejima study underwent UBM under dark and light conditions in the four quadrants of right eyes.
Results: Of 301 right eyes with eligible UBM images, 101 (33.