Linguistic-based Mild Cognitive Impairment detection using Informative Loss.

This paper presents a deep learning method using Natural Language Processing (NLP) techniques, to distinguish between Mild Cognitive Impairment (MCI) and Normal Cognitive (NC) conditions in older adults. We propose a framework that analyzes transcripts generated from video interviews collected within the I-CONECT study project, a randomized controlled trial aimed at improving cognitive functions through video chats. Our proposed NLP framework consists of two Transformer-based modules, namely Sentence Embedding (SE) and Sentence Cross Attention (SCA). First, the SE module captures contextual relationships between words within each sentence. Subsequently, the SCA module extracts temporal features from a sequence of sentences. This feature is then used by a Multi-Layer Perceptron (MLP) for the classification of subjects into MCI or NC. To build a robust model, we propose a novel loss function, called InfoLoss, that considers the reduction in entropy by observing each sequence of sentences to ultimately enhance the classification accuracy. The results of our comprehensive model evaluation using the I-CONECT dataset show that our framework can distinguish between MCI and NC with an average area under the curve of 84.75%.

Selective effects of estradiol on human corneal endothelial cells.

In Fuchs endothelial corneal dystrophy (FECD), mitochondrial and oxidative stresses in corneal endothelial cells (HCEnCs) contribute to cell demise and disease progression. FECD is more common in women than men, but the basis for this observation is poorly understood. To understand the sex disparity in FECD prevalence, we studied the effects of the sex hormone 17-ß estradiol (E2) on growth, oxidative stress, and metabolism in primary cultures of HCEnCs grown under physiologic ([O2]2.5) and hyperoxic ([O2]A) conditions. We hypothesized that E2 would counter the damage of oxidative stress generated at [O2]A. HCEnCs were treated with or without E2 (10 nM) for 7-10 days under both conditions. Treatment with E2 did not significantly alter HCEnC density, viability, ROS levels, oxidative DNA damage, oxygen consumption rates, or extracellular acidification rates in either condition. E2 disrupted mitochondrial morphology in HCEnCs solely from female donors in the [O2]A condition. ATP levels were significantly higher at [O2]2.5 than at [O2]A in HCEnCs from female donors only, but were not affected by E2. Our findings demonstrate the resilience of HCEnCs against hyperoxic stress. The effects of hyperoxia and E2 on HCEnCs from female donors suggest cell sex-specific mechanisms of toxicity and hormonal influences.

Relationship of Viral Load with the Laboratory Markers and Prognosis in COVID-19 Patients.

Background: Coronavirus disease 2019 (COVID-19) viral load determined from the cycle threshold (CT) values may be a marker of disease severity and predict disease progression. Our study aimed to investigate the relationship between SARS-CoV-19 cycle thresholds or viral load, laboratory markers, and patient prognosis. Methods: Patients who were admitted to Imam Reza Hospital at Mashhad University of Medical Sciences between March 2020 and March 2021 and had COVID-19 polymerase chain reaction (PCR)-confirmed at random were included in this cross-sectional study. Patients were randomly selected from those who tested positive on nasopharyngeal and oropharyngeal reverse transcription-PCR samples. The inclusion criteria were all patients older than 16 years with positive COVID-19 PCR results. Samples with Ct values of ≤36 were considered positive for SARS-CoV-2 RNA. Patients who did not have laboratory markers were excluded. We used SPSS Version 16 (Pearson correlation, analysis of variance, and logistic regression tests) to analyze the data. A P ≤ 0.05 was considered statistically significant. Results: In our study, serum lactate dehydrogenase and aspartate aminotransferase were found to be laboratory biomarkers inversely correlated with COVID-19 Ct values, indicating higher viral load (r = -0.14; P = 0.024 and r = -0.12; P = 0.053, respectively). Also, the platelet count is lower in patients with higher viral loads (r = 0.18; P < 0.001). However, we found no correlation between the viral load and some laboratory biomarkers such as ferritin, white blood cell and lymphocyte count, alanine transaminase, and c-reactive protein (P > 0.05). The patient's length of hospital stay was not correlated with their viral load (P > 0.05). Conclusion: The COVID-19 viral load has been linked to some laboratory indicators and may be used to predict patient death. These discoveries might help in the treatment of COVID-19 disease.

Unilateral Roth spots as an initial presentation in Essential Thrombocythemia.

PURPOSE: To describe a 25-year-old female patient with unilateral Roth spots as the initial presentation of Essential Thrombocythemia. METHOD: Case report. RESULTS: A 25 -year-old female presented with visual complaints of seeing flashing lights and mild blurred vision in her left eye. Dilated fundus exam revealed intra-retinal hemorrhages with a pattern compatible with Roth spots. Further work up showed thrombocythemia with positive JAK2 (V617F) mutation, confirming the diagnosis of Essential Thrombocythemia (ET). The symptoms and fundus findings resolved in one month after initiation of the treatment with low dose oral aspirin.ET which is defined as repeated platelet count of ≥ 450,000 per microliter without a secondary cause, can present with highly variable symptoms from being asymptomatic to chest pain, cerebral venous sinus thrombosis, retinal vascular occlusion, and granuloma annulare.In the presented case Roth spots hastened the need for more complete workup to determine the systemic cause of this ocular finding, ultimately leading to the diagnosis. CONCLUSION: Finding of Roth spots may warrant a systemic work up to find out the underlying pathologic condition, which in the present case was Essential Thrombocythemia, a potentially life-threatening condition. DECLARATION: Authors declare no conflict of interest.

The efficacy of 2 different phakic intraocular lens implant in keratoconus as an isolated procedure or combined with collagen crosslinking and intra-stromal corneal ring segments: a systematic review and meta-analysis.

PURPOSE: To compare the efficacy of phakic intra-ocular lenses in isolation or in combination with corneal crosslinking (CXL) and/or intra-stromal corneal ring segments (ICRS) in keratoconus. METHODS: Data extracted from the publications meeting the selection. The outcome parameters included mean pre- and post-operative uncorrected distance visual acuity, corrected distance visual acuity (CDVA), sphere and cylinder of refraction and complications. Available data analyzed with Cochrane Review Manager. RESULTS: A total of 23 studies including 464 eyes were included. All the parameters showed significant improvement in all subgroups other than CDVA in ACPIOL + CXL subgroup and cylinder in PIOL + CXL subgroups. There was not a significant difference between PCPIOL and ACPIOL in the outcomes, exception was more improvement of CDVA in "ACPIOL only" than" PCPIOL only" subgroup. CONCLUSION: Both PCPIOLs and ACPIOLs are comparably safe and efficient options in management of KCN and their efficacy significantly improves when combined with CXL/ICRS.

Selective effects of estradiol on human corneal endothelial cells.

Fuchs endothelial corneal dystrophy (FECD) results from genetic and environmental factors triggering mitochondrial and oxidative stress in corneal endothelial cells (CEnCs) leading to CEnC death and corneal opacification. FECD is more common in women than men, but the basis for this observation is unknown. Because FECD is commonly diagnosed around the time of the menopausal transition in women when estrogen levels decrease precipitously, we studied the effects of the potent estrogen,17-ß estradiol (E2) on growth, oxidative stress, and metabolism in primary cultures of human CEnCs (HCEnCs) under conditions of physiologic 2.5% O 2 ([O 2 ] 2.5 ) and under hyperoxic stress ([O 2 ] A : room air + 5% CO 2 ). We hypothesized that E2 would counter the stresses of the hyperoxic environment in HCEnCs. HCEnCs were treated ± 10 nM E2 for 7-10 days at [O 2 ] 2.5 and [O 2 ] A followed by measurements of cell density, viability, reactive oxygen species (ROS), mitochondrial morphology, oxidative DNA damage, ATP levels, mitochondrial respiration (O 2 consumption rate [OCR]), and glycolysis (extracellular acidification rate [ECAR]). There were no significant changes in HCEnC density, viability, ROS levels, oxidative DNA damage, OCR, and ECAR in response to E2 under either O 2 condition. We found that E2 disrupted mitochondrial morphology in HCEnCs from female donors but not male donors at the [O 2 ] A condition. ATP levels were significantly higher at [O 2 ] 2.5 compared to [O 2 ] A in HCEnCs from female donors only, but were not affected by E2. Our findings demonstrate the overall resilience of primary HCEnCs against hyperoxic stress. The selective detrimental effects of hyperoxia and estradiol on HCEnCs from female but not male donors suggests mechanisms of toxicity based upon cell-sex in addition to hormonal environment.

Classification of Tear Film Lipid Layer En Face Maps Obtained Using Optical Coherence Tomography and Their Correlation With Clinical Parameters.

PURPOSE: The purpose of this study was to investigate the correlation between the pattern of optical coherence tomography (OCT) en face maps of the tear film lipid layer (TFLL) and lipid layer thickness (LLT), fluorescein breakup time (FBUT), and Schirmer I test values in healthy subjects. METHODS: Measurements from four clinical data sets were retrospectively analyzed, and TFLL patterns were classified into 3 categories: homogeneous (HOM), wavy (WAV), or dotted (DOT) appearance. Linear mixed model analyses were performed. Intraclass correlation coefficients and index of qualitative variation were computed to investigate interrater and intrasubject variabilities. RESULTS: For the LLT, a significant difference between HOM and DOT ( P < 0.001, ß HOMvsDOT = -6.42 nm) and WAV and DOT ( P = 0.002, ß WAVvsDOT = -4.04 nm) was found. Furthermore, the difference between WAV and DOT regarding FBUT ( P < 0.001, ß WAVvsDOT = -3.065 seconds) was significant, while no significant differences between any of the classes with respect to the Schirmer I test values were found. An intraclass correlation coefficient of 89.0% reveals a good interrater reliability, and an index of qualitative variation of 60.0% shows, on average, a considerable variability in TFLL pattern class for repeated measurements over 1 hour. CONCLUSIONS: A new classification method for OCT en face maps of the TFLL is presented. Significant differences between patterns were found with respect to LLT and FBUT. A dotted pattern on dark background appears to be the most stable type of TFLL. The analysis of OCT en face maps of the TFLL provides complimentary information to conventional imaging methods and might give new insights into the characteristics of the TFLL.

Repeatability and Reproducibility of 4.5 by 4.5 mm Peripapillary Optical Coherence Tomography Angiography Scans in Glaucoma and Non-Glaucoma Eyes.

PRCIS: Peripapillary vessel parameters from optical coherence tomography angiography (OCTA) 4.5×4.5 mm scans in nonglaucomatous and glaucomatous eyes showed high repeatability and reproducibility, with higher reliability for commercially developed OCTA parameters compared with custom OCTA parameters. PURPOSE: The purpose of this study was to assess intrasession repeatability versus intersession reproducibility of peripapillary vessel parameters from 4.5×4.5 mm OCTA scans in nonglaucomatous eyes and glaucomatous eyes. MATERIALS AND METHODS: In a longitudinal study, peripapillary OCTA scans were quantified using research-oriented custom quantification software that calculated vessel area density (VAD) and flux and clinic-oriented commercially developed software (Cirrus 11.0) that calculated perfusion density (PD) and flux index (FI). Intrasession repeatability and intersession reproducibility were evaluated using within-eye coefficient of variation (CV W ) and intraclass correlation coefficient (ICC). RESULTS: With 127 nonglaucomatous eyes, intrasession CV W for VAD, PD, flux, and FI were 1.900%, 1.174%, 2.787%, and 1.425%, respectively. The intersession CV W were 2.039%, 1.606%, 4.053%, and 2.798%, respectively. Intrasession ICC ranged from 0.903 to 0.956, and intersession ICC ranged from 0.850 to 0.896. Among 144 glaucomatous eyes, intrasession CV W for VAD, PD, flux, and FI were: 3.841%, 1.493%, 5.009%, and 2.432%, respectively. The intersession CV W were 4.991%, 2.155%, 6.360%, and 3.458%, respectively. Intrasession ICC ranged from 0.956 to 0.969, and intersession ICC ranged from 0.918 to 0.964. CONCLUSIONS: Among nonglaucomatous and glaucomatous eyes, the majority of peripapillary OCTA vessel parameters from 4.5×4.5 mm scans had greater intrasession repeatability than intersession reproducibility. There was a greater agreement for the commercially developed quantification parameters than for their custom quantification counterparts.

Recurrence of Herpetic Keratitis after COVID-19 Vaccination: A Report of Two Cases.

Background: Recurrence of herpetic keratitis following vaccination has been documented following vaccination with the Zostavax, trivalent flu, hepatitis A, and rabies vaccines. The USFDA and WHO have acknowledged that the novel COVID-19 vaccines similarly have a risk of reactive immunologic-based inflammation, namely, myositis, pericarditis, and Guillain-Barré syndrome. Case Presentation. We present two patients with latent herpetic keratitis who experienced reactivation of keratitis within weeks of COVID-19 vaccination despite prolonged periods of prior latency. A 52-year-old healthy male with no herpes simplex virus (HSV) keratitis recurrences in two years developed visual decline and patchy stromal haze within 24-48 hours of receiving the second Pfizer-BioNTech (COVID-19 BNT162b2) vaccine. A 67-year-old female with chronic neurotrophic keratitis developed her most severe exacerbation of herpes zoster keratitis in over 10 years occurring 2-3 weeks after her first Moderna (mRNA-1273) vaccine, which was later complicated by bacterial superinfection. Conclusions: The COVID-19 vaccines work by generating both adaptive humoral and cellular immune responses in humans, including elevation of anti-spike neutralizing antibody titers, antigen-specific CD4+ and CD8+ T-cell responses, and increased levels of proinflammatory cytokines such as interferon gamma (IFNγ). The general activation of the T-cell-mediated immune response and proinflammatory cytokines such as IFNγ may underlie the role of the COVID vaccines in reactivation of herpetic stromal keratitis and the clinical findings in our reported cases.

Screening and in Silico Functional Analysis of MiRNAs Associated with Acute Myeloid Leukemia Relapse.

BACKGROUND: Hematologic malignancies are among fatal diseases with different subtypes. Acute myeloid leukemia (AML) is a subtype showing a high invasion rate to different tissues. OBJECTIVE: AML patients, even after treatment, show an increased rate of recurrence, and this relapsed profile of AML has turned this malignancy into big challenges in the medical scope. METHODS: In the current study, we aimed to investigate hub-genes and potential signaling pathways in AML recurrence. Two expression profiles of genes and non-coding RNAs were extracted from the Gene Expression Omnibus (GEO) database. Target genes of identified miRNAs were predicted through bioinformatics tools. GO and KEGG pathway enrichment analyses were conducted to discover common target genes and differentially expressed genes. Protein-protein interaction (PPI) network was constructed and visualized through the STRING online database and Cytoscape software, respectively. Hub-genes of constructed PPI were found through the CytoHubba plugin of Cytoscape software. RESULTS: As a result, 109 differentially expressed genes and 45 differentially expressed miRNAs were found, and the top enriched pathways were immune response, xhemokine activity, immune System, and plasma membrane. The hub-genes were TNF, IL6, TLR4, VEGFA, PTPRC, TLR7, TLR1, CD44, CASP1, and CD68. CONCLUSION: The present investigation based on the in silico analysis and microarray GEO databases may provide a novel understanding of the mechanisms related to AML relapse.

A portable, low-cost practice model for microsurgical skills training.

PURPOSE: We describe a portable practice model for acquisition of microsurgical skills using widely available inexpensive tools and materials as a model in learning ophthalmic corneal suturing skills. METHODS: Interested participants without prior microsurgery experience affiliated with the Jacobs School of Medicine and Biomedical Sciences with no prior microsurgical experience qualified to participate. Each participant completed written informed consent. We developed a 3-dimensional micro-stellated icosahedron model using microtubules, monofilament fishing line, jewelers' forceps, and a basic laboratory dissection microscope. We tested this model in improving microsurgical skills in a randomized, controlled intervention trial. Following a pre-assessment task of passing a microsurgical needle and performing a tie, participants were randomized to a control or an intervention (building the micro-stellated icosahedrons) group. The assessment task was repeated after two weeks. Videos of pre- and post-assessments were rated by two masked ophthalmologists. Technique scores and time to complete microsurgical tasks were analyzed to determine improvement in skills. RESULTS: A total of 27 microsurgically naïve participants were recruited and randomized (14 Intervention / 13 Control). Comparing pre- and post-assessments, the intervention group showed significant decrease in time required to pass the needle (P = 0.018) and significant improvement in technical scores. (P = 0.001). In the control group, there was no significant decrease in time or improvement in technical scores. CONCLUSIONS: The portable inexpensive micro-stellated icosahedron skills acquisition model is an effective practice model to acquire skills necessary to perform a microsurgical tie. The similarity in dimensions between the model and the eye suggests translatability to ophthalmic surgery.

Environmentally relevant atrazine exposure leads to increases in DNA damage and changes in morphology in the hepatopancreas of crayfish (Faxonius virilis).

The herbicide atrazine is widely used for controlling broad leaf weeds and increasing crop yields in agricultural areas. Atrazine enters aquatic environments through runoff, ground water discharge and seepage where concentrations have been recorded above 300 ppb. Exposure to the herbicide atrazine at environmentally relevant concentrations has been shown to negatively impact aquatic organisms, including crayfish. Because xenobiotics are concentrated in the crayfish hepatopancreas (digestive gland), we examined changes in morphology and DNA damage in hepatopancreatic tissue structure and cells following a 10-day exposure to atrazine (0, 10, 40, 80, 100 and 300 ppb). We found that there were marked morphological changes, post-exposure, for all atrazine concentrations tested. Hepatopancreatic tissue exhibited degenerated tubule epithelium with necrosis of microvilli, tubule lumen dilation, changes in tubular epithelium height and vacuolization of the epithelium. Likewise, we also performed a terminal deoxynucleotidyl transferase (TdT) mediated dUTP nick-end labeling (TUNEL) assay which showed the percentage of cells with DNA damage increased following atrazine exposure. Crayfish hepatopancreatic tissue displayed significant increases in TUNEL-positive cells following exposure to atrazine at 100 ppb and above. Overall, exposure to atrazine at environmentally relevant concentrations damages hepatopancreatic tissue. This impairment could lead to changes in biotransformation, detoxification, digestion and molting, subsequently reducing crayfish populations and negatively impacting the aquatic ecosystem.

Genetic Mapping of a new Hippo allele, HpoN.1.2, in Drosophila melanogaster.

Genetic screens provide a mechanism to identify genes involved with different cellular and organismal processes. Using a Flp/FRT screen in the Drosophila eye we identified mutations that result in alterations and de-regulation of cell growth and division. From this screen a group of undergraduate researchers part of the Fly-CURE consortium mapped and characterized a new allele of the gene Hippo, HpoN.1.2.

Intrasession repeatability and intersession reproducibility of peripapillary OCTA vessel parameters in non-glaucomatous and glaucomatous eyes.

OBJECTIVE: To compare intrasession repeatability versus intersession reproducibility of the peripapillary vessel parameters using optical microangiography-based optical coherence tomography angiography (OCTA) in non-glaucomatous and glaucomatous eyes. METHODS: In an observational, longitudinal study, peripapillary OCTA scans were collected to evaluate intrasession repeatability and intersession reproducibility using within-eye coefficient of variation (CVW) and intraclass correlation coefficient (ICC). Images were quantified using a custom research-oriented quantification software calculating vessel area density (VAD) and flux and a commercially developed, clinic-oriented quantification software (Cirrus 11.0, Carl Zeiss Meditec) calculating perfusion density (PD) and flux index (FI). Effect of signal strength on the reliability of OCTA parameters was also evaluated. RESULTS: Among 120 non-glaucomatous eyes, intrasession CVW were 4.2% for VAD, 5.3% for flux, 1.5% for PD and 2.0% for FI. The intersession CVW were 6.5% for VAD, 8.0% for flux, 2.0% for PD and 3.2% for FI. The intrasession ICC ranged from 0.928 to 0.945, and intersession ICC ranged from 0.811 to 0.866. From 118 glaucomatous eyes, intrasession CVW was 9.0% for VAD, 10.3% for flux, 1.7% for PD and 2.3% for FI. The intersession CVW was 12.1% for VAD, 14.2% for flux, 2.3% for PD and 3.5% for FI. The intrasession ICC ranged from 0.904 to 0.972, and intersession ICC ranged from 0.855 to 0.955. Signal strength was significantly positively associated with OCTA vessel parameters (p<0.0001) for both groups. CONCLUSION: Peripapillary OCTA vessel parameters had greater intrasession repeatability compared to intersession reproducibility in both non-glaucomatous and glaucomatous eyes. The built-in commercially developed quantification software demonstrated greater agreement than the custom research-oriented quantification software.

Relative retinal flow velocity detection using optical coherence tomography angiography imaging.

Optical coherence tomography angiography (OCTA) imaging is a valuable tool for the visualization of retinal vasculature at an unprecedented level of details. However, due to relatively long time-interval between repeated scans in the conventional OCTA scanning protocol, the OCTA flow signal suffers from low dynamic range and loss of velocity-intensity correlation. The ability to distinguish fast and slow flow in the retina may provide a powerful tool for the assessment of early-stage retinal diseases such as vein occlusion. Here, we report a method to detect relative flow velocity in human retina using a 67.5 kHz spectral-domain OCTA device. By adapting the selection of A-scan time-intervals within a single OCTA acquisition and combining the resulting OCTA images, we expand the detectable velocity range. After a quantitative validation of this method performing microchannel flow experiments with varying flow velocities, we demonstrate this approach on human eyes using CIRRUS HD-OCT 5000 with AngioPlex (ZEISS, Dublin, CA) through a prototype scanning pattern.

Corneal collagen cross-linking in pediatric keratoconus with three protocols: a systematic review and meta-analysis.

BACKGROUND: Keratoconus is a bilateral progressive noninflammatory degenerative disease of the cornea characterized by corneal thinning, irregular astigmatism, and subsequent visual impairment. It has an aggressive course in children. This systematic review evaluates the efficacy of available corneal collagen cross-linking (CXL) protocols for stabilizing the cornea in pediatric patients with keratoconus. METHODS: We searched all peer-reviewed publications from 2000 to 2019 indexed in PubMed, Google Scholars, Web of Science, and Cochrane's Database for the terms keratoconus and cross-linking. The following data were extracted from eligible studies: study design, type of intervention, number of the eyes and mean age of patients for each study, duration of follow-up period, mean pre- and postoperative uncorrected and corrected visual acuity, keratometric and aberrometric indices, were analyzed with RevMan 5.3 software. Intra-and intergroup post hoc analyses of outcome variables were performed using t tests. RESULTS: A total of 28 studies, including 1,300 eyes, were reviewed. In conventional and accelerated epithelium-off techniques, there was a significant improvement in uncorrected and corrected visual acuities. Similarly, the keratometric indices improved significantly after CXL. Uncorrected visual acuity did not alter after CXL using transepithelial method. CONCLUSIONS: Both conventional and accelerated collagen CXL of the cornea are effective therapeutic options in management of keratoconus in children.

Posterior pole retinal thickness distribution pattern in keratoconus.

PURPOSE: To evaluate the pattern of retinal thickness distribution in patients with keratoconus (KCN) and its correlation with disease severity. METHODS: For this cross-sectional cohort study, the study subjects with documented keratoconus and normal eyes were prospectively enrolled. All subjects had anterior segment (Pentacam HR) and posterior segment (Spectralis) imaging. Posterior segment imaging by optical coherence tomography included the posterior pole asymmetry analysis map. Data were analyzed with multiple linear regression models and correlation tests to examine the mean and variance of the measured thickness of the retina and its distribution relative to the presence and severity of KCN. RESULTS: A total of 24 subjects with keratoconus (48 eyes) and 14 normal subjects (28 eyes) enrolled in this study. The posterior pole retinal thickness, both superior and inferior hemifields, as well as the overall retinal thickness in KCN patients was greater than the control group. There was a direct correlation between the overall retinal thickness of the posterior pole and the severity of KCN (R2 = 0.422, P < 0.001). However, the variability of the retinal thickness showed no difference between KCN-afflicted and healthy eyes. CONCLUSION: Although KCN is a disease of the anterior segment of the eye, we found an orderly increase in posterior pole retinal thickness that is correlated with the severity of disease in KCN eyes compared to control. These findings suggest that the retina may maintain some degree of plasticity to respond to the degraded optical system of the eye.

The Gene Expression Profile and DNA Methylation Pattern of CDH1 and DNMT1 Genes in Acute Promyelocytic Leukemia (APL).

BACKGROUND: DNA methylation is an epigenetic modification that has the ability to alter gene expression and function. These epigenetic changes have been associated with the development of cancer. Previous research has found that DNA methylation patterns can predict disease prognosis for patients with Acute Promyelocytic Leukemia (APL). The role of DNMT1 and CDH1 in regulating the extension of cells are studied in this study. METHODS: DNA was extracted from peripheral blood samples of APL patients and treated with bisulfite. DNMT1 and CDH1 gene promoter methylation was subsequently analyzed using methylation-specific PCR (MSP). Real-time PCR was used to measure the expression level of DNMT1 and CDH1 genes. RESULTS: Partial methylation of the CDH1 gene promoter was detected in 20% of APL patients and an unmethylated status was detected in 80% of patient samples. Additionally, an unmethylated status in the DNMT1 gene promoter was detected in 100% of APL patient samples. CONCLUSION: Our study found the CDH1 gene promoter to be unmethylated in almost all APL patients, while the DNMT1 promoter was unmethylated in all APL patients. Furthermore, we observed an increase in both CDH1 and DNMT1 gene expression in APL patients compared to healthy controls. These findings suggest that DNMT1 may not have a specific role in inhibiting CDH1 gene expression in APL. Applying higher resolution techniques would help to better uncover the DNA methylation patterns in patients with APL. Further research is required to determine the role of DNA methylation and CDH1 and DNMT1 gene expression in APL.