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2.
Diagnostics (Basel) ; 14(13)2024 Jun 25.
Article in English | MEDLINE | ID: mdl-39001240

ABSTRACT

In this study, we aimed to evaluate the association between the severity of coronary heart disease (CHD) and the subsequent severity of blepharitis. This retrospective population-based cohort study was conducted using the National Health Insurance Research Database (NHIRD) of Taiwan. The participants with a CHD diagnosis were divided into mild CHD and severe CHD groups at a 1:2 ratio, according to whether percutaneous coronary intervention (PCI) was performed. The main outcomes were the development of blepharitis and severe blepharitis with the application of antibiotics. Cox proportional hazard regression was performed to obtain the adjusted hazard ratio (aHR) for blepharitis, with a 95% confidence interval (CI) between the groups. There were 22,161 and 15,369 blepharitis events plus 9597 and 4500 severe blepharitis episodes in the mild and severe CHD groups, respectively. The severe CHD group showed a significantly higher incidence of blepharitis development (aHR, 1.275; 95% CI: 1.051-1.912, p = 0.0285), whereas the incidence of severe blepharitis was not significantly different between the groups (aHR, 0.981; 95% CI: 0.945-1.020, p = 0.3453). The cumulative probability of blepharitis was significantly higher in the severe CHD group than in the mild CHD group (p < 0.001). In the subgroup analyses, the correlation between severe CHD and blepharitis was more significant in patients older than 70 years compared to the younger group (p = 0.0115). In conclusion, severe CHD is associated with a higher incidence of blepharitis than mild CHD, and this correlation is more prominent in individuals older than 70 years.

3.
Diagnostics (Basel) ; 14(12)2024 Jun 17.
Article in English | MEDLINE | ID: mdl-38928690

ABSTRACT

Our objective was to evaluate the topographic and surgical factors of early myopic regression between laser in situ keratomileusis (LASIK) and small-incision lenticule extraction (SMILE). A retrospective case-control study was conducted, and 368 and 92 eyes were enrolled in the LASIK and SMILE groups via propensity score matching (PSM). Visual acuity, refractive status, axial length, and topographic/surgical parameters were collected. Multiple linear regression was applied to the yield coefficient and the 95% confidence interval (CI) of the parameters. The cumulative incidence of early myopic regression was higher in the LASIK group (p < 0.001). In the SMILE group, a lower central corneal thickness (CCT) thinnest value and a higher corneal cylinder associated with early myopic regression were observed; meanwhile, in the LASIK group, a lower CCT thinnest value, a higher steep corneal curvature, a larger optic zone, and a lower flap thickness related to early myopic regression were observed (all p < 0.05). In the SMILE group, a higher CCT difference correlated with early myopic regression was observed compared to the LASIK group (p = 0.030), and higher steep corneal curvature and lower cap/flap thickness (both p < 0.05) correlated with early myopic regression were observed in the LASIK group compared to the SMILE group. In conclusion, CCT differences significantly influence early myopic regression in the SMILE group; meanwhile, corneal curvature and flap thickness affect early myopic regression principally in the LASIK group.

4.
Nat Nanotechnol ; 2024 Jun 21.
Article in English | MEDLINE | ID: mdl-38907040

ABSTRACT

Researchers have been developing 2D materials (2DM) for electronics, which are widely considered a possible replacement for silicon in future technology. Two-dimensional transition metal dichalcogenides are the most promising among the different materials due to their electronic performance and relatively advanced development. Although field-effect transistors (FETs) based on 2D transition metal dichalcogenides have been found to outperform Si in ultrascaled devices, the comparison of 2DM-based and Si-based technologies at the circuit level is still missing. Here we compare 2DM- and Si FET-based static random-access memory (SRAM) circuits across various technology nodes from 16 nm to 1 nm and reveal that the 2DM-based SRAM exhibits superior performance in terms of stability, operating speed and energy efficiency when compared with Si SRAM. This study utilized technology computer-aided design to conduct device and circuit simulations, employing calibrated MoS2 nFETs and WSe2 pFETs. It incorporated layout design rules across various technology nodes to comprehensively analyse their SRAM functionality. The results show that, compared with three-dimensional structure Si transistors at 1 nm node, the planar 2DMFETs exhibited lower capacitance, leading to reduced cell read access time (-16%), reduced time to write (-72%) and lowered dynamic power (-60%). The study highlights the provisional benefits of using planar 2DM transistors to mitigate the performance degradation caused by reduced metal pitch and increased wire resistance in advanced nodes, potentially opening up exciting possibilities for high-performance and low-power circuit applications.

5.
Arch Med Sci ; 20(2): 402-409, 2024.
Article in English | MEDLINE | ID: mdl-38757017

ABSTRACT

Introduction: To survey the potential correlation between the application of sodium-glucose cotransporter 2 (SGLT2) inhibitors and the incidence of uveitis in individuals with type 2 diabetes mellitus (T2DM). Material and methods: A retrospective cohort study using the National Health Insurance Research Database (NHIRD) was conducted. The T2DM patients using SGLT2 inhibitors and those taking other anti-diabetic medications were assigned to the SGLT2 group and the control group, respectively, with a 1 : 2 ratio via the propensity score-matching (PSM) method. The major outcome in this study is the development of uveitis according to the diagnostic codes. The Cox proportional hazard regression was adopted to yield the adjusted hazard ratio (aHR) with 95% confidence interval (CI) between the groups. Results: There were 147 and 371 new uveitis episodes in the SGLT2 and control groups after the follow-up period up to 5 years. The incidence of uveitis in the SGLT2 group (aHR = 0.736, 95% CI: 0.602-0.899, p = 0.0007) was significantly lower than that in the control group after adjusting for the effect of all the confounders. In the subgroup analyses, the SGLT2 inhibitors showed a higher correlation with low uveitis incidence in T2DM patients aged under 50 than T2DM individuals aged over 50 years (p = 0.0012), while the effect of SGLT2 inhibitors on the incidence of anterior and posterior uveitis development was similar (p = 0.7993). Conclusions: The use of SGLT2 inhibitors could be an independent protective factor for uveitis development in T2DM population.

7.
Cornea ; 2024 May 22.
Article in English | MEDLINE | ID: mdl-38780430

ABSTRACT

PURPOSE: To compare the degree of myopic regression after myopia correction with either femtosecond laser-assisted in situ keratomileusis (FS-LASIK) or small-incision lenticule extraction (SMILE) over 18 months. METHODS: Patients undergoing FS-LASIK or SMILE surgery for myopia correction were retrospectively recruited. The propensity scores were used to match patients by age and preoperative manifest spherical equivalent (SEQ) from these 2 groups. Myopic regression was analyzed using the Cox proportional hazard model. RESULTS: A total of 416 eyes of 416 patients undergoing FS-LASIK and 416 eyes of 416 patients undergoing SMILE were matched. Using 1-month SEQ as baseline, the SEQ regression values after FS-LASIK were 0D, -0.17 ± 0.69D, -0.24 ± 0.65D, -0.31 ± 0.65D, -0.32 ± 0.63D, and -0.33 ± 0.62D and the SEQ regression values after SMILE were 0D, -0.07 ± 0.75D, -0.18 ± 0.77D, -0.23 ± 0.82 D, -0.21 ± 0.77D, and -0.24 ± 0.68D at 1, 3, 6, 9, 12, and 18 months, respectively. The Cox proportional hazard model showed that preoperative manifest SEQ (P = 0.021) and designed optical zone (P = 0.048) are significant predictors. The selected surgical procedure had no significant effect on predicting myopic regression (P = 0.470). The cumulative survival rates of myopic regression were 54.74% and 42.10% in the FS-LASIK group and 58.66% and 43.83% in the SMILE group, at 12 and 18 months, respectively (log-rank test, P = 0.11). CONCLUSIONS: After matching based on age and preoperative manifest SEQ, we found that higher myopia and a smaller optical zone contribute significantly to the development of myopic regression after undergoing FS-LASIK or SMILE surgery at 18 months. The selected surgical procedure, however, does not affect the likelihood of myopic regression.

8.
Invest Ophthalmol Vis Sci ; 65(5): 37, 2024 May 01.
Article in English | MEDLINE | ID: mdl-38780946

ABSTRACT

Purpose: The purpose of this study was to analyze human corneal endothelial cells (HCECs) morphology and ocular biometrics in premature (PM) children with or without retinopathy of prematurity (ROP). Methods: Retrospective data on patient demographics, HCECs status, and ocular biometrics with at least 2 visits between 2016 and 2021 were reviewed. The main outcomes were endothelial cell density (ECD), coefficient of variation (CV), hexagonal cell ratio (HEX), central corneal thickness (CCT), axial length, anterior chamber depth, keratometry, corneal diameter, pupil diameter, and refraction status. Generalized estimating equation was used to evaluate the differences between PM no-ROP and ROP groups. We also analyzed the trend of ECD, CV, HEX, and CCT change with age between groups. Results: The study included 173 PM patients without ROP and 139 patients with ROP. A total of 666 and 544 measurements were recorded in the PM no-ROP and ROP groups, respectively. The ROP group had higher spherical power, myopic spherical equivalent (SE), and steeper steep keratometry (K; P < 0.05). The ROP group had higher CV (P = 0.0144), lower HEX (P = 0.0012) and thicker CCT (P = 0.0035). In the HCECs parameters, the ROP group had slower ECD decrement (P < 0.0001), faster CV decrement (P = 0.0060), and faster HEX increment (P = 0.0001). A difference in corneal morphology changes between the ROP and PM no-ROP groups were prominent in patients with lower gestational age (GA) in the subgroup analysis. Conclusions: Worse HCECs morphology and higher myopic status were initially observed in patients with prior ROP but not in PM patients with no-ROP. ECD and HCECs morphology improved with age, especially in patients with low GA.


Subject(s)
Biometry , Endothelium, Corneal , Gestational Age , Infant, Premature , Retinopathy of Prematurity , Humans , Retinopathy of Prematurity/diagnosis , Retrospective Studies , Male , Female , Infant, Newborn , Endothelium, Corneal/pathology , Refraction, Ocular/physiology , Cell Count , Infant , Child, Preschool , Axial Length, Eye/pathology , Child
9.
Int J Med Sci ; 21(7): 1329-1336, 2024.
Article in English | MEDLINE | ID: mdl-38818477

ABSTRACT

Purpose: The purpose of this study was to compare the differences in myopic control effects between orthokeratology (OK) contact lenses and defocus incorporated multiple segments (DIMS) spectacle lenses. Methods: A retrospective cohort study was conducted that included patients who had received OK lens, DIMS spectacle lens or single-vision spectacle treatments. A total of 54 eyes from 27 individuals, 38 eyes from 19 individuals and 42 eyes from 21 individuals were enrolled into the OK lens, DIMS and control groups, respectively. The primary outcomes were the changes in the spherical equivalent refraction (SER) and axial length (AXL) among the groups. A repeated-measure ANCOVA was adopted to calculate the SER progression and AXL elongation of the OK lens group compared with the DIMS group. Results: The difference in the SER progression was clinically non-significant in the OK lens group compared with the DIMS and control groups (P = 0.001). The total AXL elongation results were similar between the OK lens and DIMS groups, but these were lower than in the control group (P = 0.005). The repeated-measure ANCOVA revealed that the SER progression difference during the study interval was clinically non-significant in the OK lens group when compared with the DIMS group (P = 0.028). The AXL elongation results between the OK lens and DIMS populations did not illustrate a significant difference (P = 0.607). In a subgroup analysis of moderate astigmatism, better AXL control was observed in the DIMS subgroup compared with the OK lens subgroup (P = 0.016). Conclusions: The OK lens demonstrated a clinically non-significant effect on the SER and AXL controls compared with the DIMS spectacle lens.


Subject(s)
Eyeglasses , Myopia , Orthokeratologic Procedures , Refraction, Ocular , Humans , Myopia/therapy , Myopia/physiopathology , Male , Female , Orthokeratologic Procedures/methods , Retrospective Studies , Refraction, Ocular/physiology , Adult , Contact Lenses , Young Adult , Adolescent , Visual Acuity , Treatment Outcome
10.
Sci Rep ; 14(1): 8732, 2024 04 16.
Article in English | MEDLINE | ID: mdl-38627567

ABSTRACT

We sought to evaluate the topographic risk factors for early myopic regression after small-incision lenticule extraction (SMILE). A retrospective case‒control study was conducted, and individuals who underwent SMILE surgery were enrolled. Among them, 406 and 14 eyes were categorized into the nonregression and regression groups, respectively. The preoperative and postoperative parameters in the two groups were collected, including spherical refraction (SE), axial length (AXL) and topographic data. A generalized linear model was adopted to analyze the difference in each parameter between the two groups. After 6 months, UCVA decreased in the regression group, and SE increased in the regression group (both P < 0.05). The increase in the CCT at the thinnest point (P = 0.044), flat corneal curvature (P = 0.012) and TCRP (P = 0.001) were significantly greater in the regression group. Regarding the risk factors for myopic regression, preoperative SE, preoperative sphere power, preoperative AXL, preoperative flat corneal curvature, preoperative SA, early postoperative SE, early postoperative sphere power, early postoperative AXL and early postoperative CCT difference were significantly greater in the regression group (all P < 0.05). The SE, sphere power, AXL, preoperative flat corneal curvature, preoperative SA, and postoperative CCT difference correlate with early myopic regression after SMILE.


Subject(s)
Corneal Surgery, Laser , Myopia , Surgical Wound , Humans , Cornea/surgery , Corneal Stroma/surgery , Visual Acuity , Retrospective Studies , Case-Control Studies , Corneal Surgery, Laser/adverse effects , Lasers, Excimer/therapeutic use , Refraction, Ocular , Myopia/surgery , Surgical Wound/surgery
11.
Life (Basel) ; 14(4)2024 Apr 21.
Article in English | MEDLINE | ID: mdl-38672800

ABSTRACT

We aim to investigate the potential correlation between the presence of ovarian cancer and the development of dry eye disease (DED) via the usage of the Longitudinal Health Insurance Database (LHID) of Taiwan. A retrospective cohort study was executed, and patients with ovarian cancer were selected according to the diagnostic and procedure codes. One ovarian cancer patient was matched to four non-ovarian cancer participants which served as control group, and a total of 4992 and 19,968 patients constructed the ovarian cancer and control groups, respectively. The primary outcome in the current study is the development of DED according to the diagnostic and procedure codes. Cox proportional hazard regression was utilized to produce the adjusted hazard ratio (aHR) and related 95% confidence interval (CI) of DED between the two groups. There were 542 and 2502 DED events observed in the ovarian cancer group and the control group, respectively. The ovarian cancer group illustrated a significantly higher incidence of DED development than the control group after the adjustment of several confounders (aHR: 1.10, 95% CI: 1.01-1.21, p = 0.040). In the subgroup analysis stratified by age, ovarian cancer patients aged older than 60 years showed a higher incidence of DED compared to the non-ovarian cancer population (aHR: 1.19, 95% CI: 1.08-1.28, p = 0.011). In addition, ovarian cancer patients with a disease duration longer than five years also showed higher incidence of DED formation than the non-ovarian cancer population (aHR: 1.13, 95% CI: 1.04-1.22, p = 0.027). In conclusion, the presence of ovarian cancer is associated with higher incidence of subsequent DED, especially in those older than 60 years and with a disease interval of more than five years.

12.
Clin Exp Dermatol ; 49(8): 887-892, 2024 Jul 19.
Article in English | MEDLINE | ID: mdl-38469681

ABSTRACT

Autosomal recessive congenital ichthyosis (ARCI) is a genetically heterogeneous disorder with aberrant skin scaling and increased transepidermal water loss (TEWL). Current treatments for ARCI are limited and suboptimal. We present the case of a 27-year-old man with ARCI resulting from a homozygous missense variant in TGM1. RNA-sequencing of lesional skin revealed aberrant Janus kinase-signal transducer and activator of transcription signalling, providing a rationale for innovative treatment with a Janus kinase inhibitor. We prescribed oral tofacitinib (11 mg daily) for 26 weeks. Rapid improvements in erythema and fissuring occurred within the first month. Sustained reductions in 5-D itch scale and Dermatology Life Quality Index scores were also observed. TEWL decreased for the first 10 weeks but increased thereafter. Tofacitinib downregulated inflammatory genes and pathways, while enhancing skin barrier markers. Moreover, transglutaminase 1 distribution was normalized although enzymatic activity remained deficient. This study suggests that oral tofacitinib may be a useful therapy to consider for patients with ARCI.


Subject(s)
Piperidines , Pyrimidines , Humans , Male , Pyrimidines/therapeutic use , Adult , Piperidines/therapeutic use , Transglutaminases/genetics , Mutation, Missense , Protein Kinase Inhibitors/therapeutic use , Administration, Oral , Skin/pathology
14.
Br J Dermatol ; 191(2): 252-260, 2024 Jul 16.
Article in English | MEDLINE | ID: mdl-38477474

ABSTRACT

BACKGROUND: Dominant dystrophic epidermolysis bullosa (DDEB) is characterized by trauma-induced blisters and, in some individuals, intense pruritus. Precisely what causes itch in DDEB and optimal ways to reduce it have not been fully determined. OBJECTIVES: To characterize DDEB skin transcriptomes to identify therapeutic targets to reduce pruritus in patients. METHODS: Using bulk RNA sequencing, we evaluated affected and unaffected skin biopsy samples from six patients with DDEB (all with the very itchy pruriginosa subtype) and four healthy individuals. Single-cell transcriptomes of affected (n = 2) and unaffected (n = 1) DDEB skin and healthy skin (n = 2) were obtained. Dupilumab treatment was provided for three patients. RESULTS: The skin bulk transcriptome showed significant enrichment of T helper (Th)1/2 and Th17 pathways in affected DDEB skin compared with nonlesional DDEB skin and healthy skin. Single-cell transcriptomics showed an association of glycolytically active GATA3+ Th2 cells in affected DDEB skin. Treatment with dupilumab in three people with DDEB led to significantly reduced visual analogue scale (VAS) itch scores after 12 weeks (mean VAS 3.83) compared with pretreatment (mean VAS 7.83). Bulk RNAseq and quantitative polymerase chain reaction showed that healthy skin and dupilumab-treated epidermolysis bullosa (EB) pruriginosa skin have similar transcriptomic profiles and reduced Th1/Th2 and Th17 pathway enrichment. CONCLUSIONS: Single-cell RNAseq helps define an enhanced DDEB-associated Th2 profile and rationalizes drug repurposing of anti-Th2 drugs in treating DDEB pruritus.


Dominant dystrophic epidermolysis bullosa (DDEB) is a rare inherited skin disease that causes fragile skin that blisters easily, often triggered by minor injuries. These blisters are accompanied by intense itching, which can be distressing. The underlying cause of DDEB lies in genetic mutations in a gene called COL7A1. This gene encodes 'type VII collagen', a protein crucial for attaching the outer skin layer (epidermis) to the layer beneath (dermis). Although the genetic basis of DDEB is understood, the causes of itch are not known. As well as this, effective treatments for DDEB are lacking, which has driven scientists to explore innovative approaches like repurposing existing drugs. Drug repurposing involves using medications that have already been approved for other health conditions. One such drug is dupilumab, which is used for severe atopic dermatitis (eczema). Dupilumab targets immune cells called Th2 cells, which play a role in inflammation and allergies. While dupilumab has shown promise in relieving DDEB itching, the way it works in this condition is unclear. This study, carried out by a group of researchers in Taiwan, looked at gene expression in DDEB-affected and unaffected skin, and compared it to gene expression in healthy skin samples. We found heightened activity in Th2 immune cells and abnormal gene signals related to itching, similar to atopic dermatitis. These findings support using dupilumab and other anti-inflammatory drugs to alleviate itching in DDEB. Clinical trials will be crucial to evaluate the effectiveness of these drugs for managing DDEB symptoms. This research opens doors for enhanced treatment options and improving the quality of life of people living with DDEB.


Subject(s)
Antibodies, Monoclonal, Humanized , Epidermolysis Bullosa Dystrophica , GATA3 Transcription Factor , Pruritus , Skin , Th2 Cells , Humans , Epidermolysis Bullosa Dystrophica/complications , Epidermolysis Bullosa Dystrophica/immunology , Epidermolysis Bullosa Dystrophica/genetics , Epidermolysis Bullosa Dystrophica/pathology , Pruritus/etiology , Pruritus/immunology , Pruritus/drug therapy , Pruritus/pathology , Th2 Cells/immunology , Antibodies, Monoclonal, Humanized/pharmacology , Male , GATA3 Transcription Factor/metabolism , GATA3 Transcription Factor/genetics , Female , Skin/immunology , Skin/pathology , Adult , Transcriptome , Case-Control Studies , Middle Aged , Single-Cell Analysis
15.
Antioxidants (Basel) ; 13(3)2024 Mar 19.
Article in English | MEDLINE | ID: mdl-38539907

ABSTRACT

Shortening the aging duration and enhancing the functional components of garlic present significant technical challenges that need to be addressed. Thus, this study aimed to evaluate the potential role of pulsed electric field (PEF) treatment, a novel nonthermal food processing method, in promoting and enhancing the functional attributes of aged garlic. Our results showed that 2-4 kV/cm PEF pretreatment increased S-allyl cysteine (SAC), total polyphenol (TPC), and flavonoid contents (TFC) compared with un-pretreated garlic during aging. The browning and texture-softening were also significantly improved during processing time, though the latter showed no significant difference from the eighth day to the end of the aging process. The principal component analysis results showed that PEF positively affects the SAC and TFC formations without adverse effects. Among the PEF pretreatments, 3 kV/cm is the most effective in enhancing functional component production compared with the other PEF pretreatments. Therefore, PEF pretreatment is a time-saving process that promotes and enhances the functionality of aged garlic.

16.
Diagnostics (Basel) ; 14(6)2024 Mar 10.
Article in English | MEDLINE | ID: mdl-38535007

ABSTRACT

This study aimed to evaluate the potential association between coronary heart disease (CHD) severity and the subsequent dry eye disease (DED) with a different severity through the use of the National Health Insurance Research Database (NHIRD) of Taiwan. A retrospective cohort study was conducted. The CHD population was further divided into a severe CHD that had received coronary artery bypass graft (CABG) surgery group and a mild CHD that had received medicine group, then matched with a 1:2 ratio, and 29,852 and 14,926 CHD patients were put into the severe CHD and mild CHD groups, respectively. The primary outcomes were the development of DED and severe DED after CHD diagnosis. The Cox proportional hazards regression was used to produce the adjusted hazard ratio (aHR) and 95% confidence interval (CI) of DED and severe DED between groups. There were 3440 and 1276 DED cases in the mild CHD and severe CHD groups, respectively. And another 37 and 48 severe CHD events were observed in the mild and severe CHD groups, respectively. The incidence of severe DED in the severe CHD group was significantly higher compared to the mild CHD group (aHR: 5.454, 95% CI: 1.551-7.180, p = 0.0001). The cumulative probabilities of DED and severe DED were significantly higher in the severe CHD group than the mild CHD group (both p < 0.0001). In the subgroup analysis, the correlation between severe CHD and DED was higher in the patients aged older than 70 years (p < 0.0001). In conclusion, severe CHD is associated with a higher incidence of severe DED with a higher cumulative incidence.

17.
Molecules ; 29(5)2024 Feb 28.
Article in English | MEDLINE | ID: mdl-38474566

ABSTRACT

In light of industrial developments, water pollution by heavy metals as hazardous chemicals has garnered attention. Addressing the urgent need for efficient heavy metal removal from aqueous environments, this study delves into using poly-γ-glutamic acid (γ-PGA) for the bioflocculation of heavy metals. Utilizing γ-PGA variants from Bacillus subtilis with different molecular weights and salt forms (Na-bonded and Ca-bonded), the research evaluates their adsorption capacities for copper (Cu), lead (Pb), and cadmium (Cd) ions. It was found that Na-bonded γ-PGA with a high molecular weight showed the highest heavy metal adsorption (92.2-98.3%), particularly at a 0.5% concentration which exhibited the highest adsorption efficiency. Additionally, the study investigated the interaction of γ-PGA in mixed heavy metal environments, and it was discovered that Na-γ-PGA-HM at a 0.5% concentration showed a superior adsorption efficiency for Pb ions (85.4%), highlighting its selectivity as a potential effective biosorbent for wastewater treatment. This research not only enlightens the understanding of γ-PGA's role in heavy metal remediation but also underscores its potential as a biodegradable and non-toxic alternative for environmental cleanup. The findings pave the way for further exploration into the mechanisms and kinetics of γ-PGA's adsorption properties.


Subject(s)
Metals, Heavy , Polyglutamic Acid/analogs & derivatives , Water Pollutants, Chemical , Cadmium/chemistry , Glutamic Acid , Lead , Molecular Weight , Metals, Heavy/chemistry , Water , Ions , Sodium Chloride , Adsorption , Hydrogen-Ion Concentration , Kinetics
18.
Wound Repair Regen ; 32(4): 511-516, 2024.
Article in English | MEDLINE | ID: mdl-38415502

ABSTRACT

Self-improving dystrophic epidermolysis bullosa (DEB) is a genodermatosis that is inherited autosomal dominantly or recessively, and its clinical symptoms may improve or subside spontaneously. Herein, we report a case of self-improving DEB with COL7A1 p.Gly2025Asp variant. The diagnosis was made through histopathological, electron microscopic examination, and genetic testing. The same variant is also noted on his father, who presents with dystrophic toenails without any blisters. This study highlights that idiopathic nail dystrophy could be linked to congenital or hereditary disease. Furthermore, we conducted a review of the literature on the characteristics of reported cases of self-improving DEB with a personal or family history of nail dystrophy. The results supported our findings that nail dystrophy may be the sole manifestation in some family members. We suggest that individuals suffering from idiopathic nail dystrophy may seek genetic counselling when planning pregnancy to early evaluate the potential risk of hereditary diseases.


Subject(s)
Collagen Type VII , Epidermolysis Bullosa Dystrophica , Mutation, Missense , Humans , Epidermolysis Bullosa Dystrophica/genetics , Collagen Type VII/genetics , Male , Taiwan , Heterozygote , Pedigree , Female , Adult , Nail Diseases/genetics
20.
Article in English | MEDLINE | ID: mdl-38386586

ABSTRACT

Identifying points of interest (POIs) on the surface of 3D shapes is a significant challenge in geometric processing research. The complex connection between POIs and their geometric descriptors, combined with the small percentage of POIs on the shape, makes detecting POIs on any given 3D shape a highly challenging task. Existing methods directly detect POIs from the entire 3D shape, resulting in low efficiency and accuracy. Therefore, we propose a novel multi-modal POI detection method using a coarse-to-fine approach, with the key idea of reducing data complexity and enabling more efficient and accurate subsequent POI detection by first identifying and processing important regions on the 3D shape. It first obtains important areas on the 3D shape through 2D projected images, then processes points within these regions using attention mechanisms. Extensive experiments demonstrate that our method outperforms existing POI detection techniques.

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