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1.
Cornea ; 2024 Jul 09.
Artigo em Inglês | MEDLINE | ID: mdl-38984532

RESUMO

PURPOSE: Clinical diagnosis of dry eye disease is based on a subjective Ocular Surface Disease Index questionnaire or various objective tests, however, these diagnostic methods have several limitations. METHODS: We conducted a comprehensive review of articles discussing various applications of artificial intelligence (AI) models in the diagnosis of the dry eye disease by searching PubMed, Web of Science, Scopus, and Google Scholar databases up to December 2022. We initially extracted 2838 articles, and after removing duplicates and applying inclusion and exclusion criteria based on title and abstract, we selected 47 eligible full-text articles. We ultimately selected 17 articles for the meta-analysis after applying inclusion and exclusion criteria on the full-text articles. We used the Standards for Reporting of Diagnostic Accuracy Studies to evaluate the quality of the methodologies used in the included studies. The performance criteria for measuring the effectiveness of AI models included area under the receiver operating characteristic curve, sensitivity, specificity, and accuracy. We calculated the pooled estimate of accuracy using the random-effects model. RESULTS: The meta-analysis showed that pooled estimate of accuracy was 91.91% (95% confidence interval: 87.46-95.49) for all studies. The mean (±SD) of area under the receiver operating characteristic curve, sensitivity, and specificity were 94.1 (±5.14), 89.58 (±6.13), and 92.62 (±6.61), respectively. CONCLUSIONS: This study revealed that AI models are more accurate in diagnosing dry eye disease based on some imaging modalities and suggested that AI models are promising in augmenting dry eye clinics to assist physicians in diagnosis of this ocular surface condition.

3.
Clin Nutr ESPEN ; 62: 57-65, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38901949

RESUMO

BACKGROUND: Coronary artery bypass graft (CABG) is one of the preferred treatments for patients with heart problems, especially in individuals with other comorbidities and when multiple arteries are narrowed. This study aimed to assess the effects of administrating curcumin-piperine on patients who underwent CABG surgery. METHODS: This was a randomized, double-blind, placebo-controlled clinical trial, in which 80 eligible adults who underwent CABG surgery, were randomized into 4 groups. Patients received 3 tablets daily for 5 days after the surgery, which contained curcumin-piperine (each tablet contained 500 mg curcumin +5 mg piperine) or a placebo (each tablet contained 505 mg maltodextrin). Group A received 3 placebo tablets, group B received 2 placebos and one curcumin-piperine tablet, group C received 1 placebo and 2 curcumin-piperine tablets, and group D received 3 curcumin-piperine tablets. Before and after the intervention, C-reactive protein (CRP), total antioxidant capacity (TAC), cardiometabolic factors, clinical outcomes, and 28-day mortality were evaluated. RESULTS: Between-group analysis showed that CRP significantly decreased (P = 0.028), and TAC significantly increased (P = 0.033) after the intervention (Post hoc analysis showed that for CRP, the difference was between group B and D, and for TAC was between group C and D). Between-group analysis also showed that creatine kinase mono-phosphate (CK-MB) marginally reduced (P = 0.077); however, changes for troponin I (P = 0.692), lactate dehydrogenase (LDH) (P = 0.668), ejection fraction (P = 0.340), and arterial fibrillation (P = 0.99) were not significant. Blood urea nitrogen (P = 0.820) and serum creatinine (P = 0.244) did not show notable changes between groups. CONCLUSION: Supplementation with curcumin-piperine had a promising effect on serum CRP and TAC. It also had a favorable impact on CK-MB among patients who underwent CABG surgery. TRIAL REGISTRATION: IRCT20201129049534N4, available on https://en.irct.ir/trial/56930.


Assuntos
Alcaloides , Fibrilação Atrial , Benzodioxóis , Biomarcadores , Proteína C-Reativa , Ponte de Artéria Coronária , Curcumina , Suplementos Nutricionais , Piperidinas , Alcamidas Poli-Insaturadas , Humanos , Curcumina/administração & dosagem , Piperidinas/administração & dosagem , Piperidinas/uso terapêutico , Masculino , Benzodioxóis/uso terapêutico , Feminino , Pessoa de Meia-Idade , Método Duplo-Cego , Biomarcadores/sangue , Fibrilação Atrial/tratamento farmacológico , Idoso , Proteína C-Reativa/metabolismo , Resultado do Tratamento , Inflamação , Antioxidantes
4.
J Med Entomol ; 61(4): 1031-1034, 2024 Jul 12.
Artigo em Inglês | MEDLINE | ID: mdl-38723174

RESUMO

Demodex folliculorum (Simon, 1842) has been associated with various dermatological conditions. This study aimed to assess the prevalence of Demodex infestation in medical students with facial dermatoses compared with healthy medical students serving as controls. A total of 250 participants were enrolled, including 150 individuals with facial dermatoses and 100 healthy controls. Sampling was performed based on the standardized skin surface biopsy method. Demographic characteristics, specifically gender and age, were not statistically different between the patient and control groups. Among the facial dermatosis patients, 25 out of 150 (16.6%) were found to have Demodex infestation, while only three out of the 100 healthy controls (3%) exhibited infestations. The only identified species was D. folliculorum. The rates of Demodex infestation were significantly higher in the patients compared to the control groups. These findings indicate a higher prevalence of Demodex infestation among medical students with facial dermatosis, particularly in those diagnosed with folliculitis, acne vulgaris, and inflammatory papule, when compared to healthy controls. A better understanding of the relationship between D. folliculorum infestation and these dermatological conditions may lead to improved diagnostic and treatment strategies in the future.


Assuntos
Dermatoses Faciais , Infestações por Ácaros , Estudantes de Medicina , Infestações por Ácaros/epidemiologia , Infestações por Ácaros/veterinária , Infestações por Ácaros/parasitologia , Animais , Humanos , Masculino , Feminino , Adulto Jovem , Adulto , Dermatoses Faciais/epidemiologia , Dermatoses Faciais/parasitologia , Prevalência , Adolescente , Trombiculidae/fisiologia
5.
J Educ Health Promot ; 13: 138, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38784272

RESUMO

BACKGROUND: The higher prevalence of hookah tobacco smoking (HTS) has become worrisome in women. Thus, it is essential to identify and measure the perceptions associated with this unhealthy behavior as well as the type of response to risk messages to design the effective programs. This study aimed to psychometric evaluation of a new instrument, named the Extended Parallel Process Model-Hookah Tobacco Smoking Questionnaire (EPPM-HTSQ), for female university students. MATERIAL AND METHODS: This methodological study was conducted in 2019-2020 in central and western Iran. The first version of the instrument was developed with 97 items. Face, Content, and construct validity methods were used to assess the EPPM-HTSQ validity. The data viability for factorability was guided through Kaiser-Meyer-Olkin (KMO) measure of sample adequacy (Values >0.7) and Bartlett's test of Sphericity (P < 0.05). The Exploratory Factor Analysis (EFA) method with varimax rotation and SPSS software was performed to identify the main factors of the questionnaire and interpretable factors. The internal consistency and external reliability were determined. The test-retest was used for evaluating the stability of tools. RESULTS: During the assessment of the face and content validity 71 items remained in the questionnaire. EFA led to the extraction of nine dimensions: "Focusing on superior rewards," "Response Efficacy," "Perceived physical threat," "Perceived social threat," "Self-efficacy," "Fear control," "Attitude," "Fear," and "Intention" Kaiser-Meyer-Olkin (KMO) test (0.957) and Bartlett's test (P < 0.001). Cronbach's alpha (0.871-0.951) and ICC (0.985-0.998) were approved for scale dimensions. CONCLUSION: Important findings of the present study were the development and validation of the EPPM-HTSQ for measuring EPPM variables in relation to HTS; introducing a new variable "focusing on superior rewards"; as well as, the new classification of the concept of "perceived threat." The final version of the EPPM-HTSQ is a valid and reliable tool, but it is suggested to be re-evaluated in other studies with different populations and sample sizes.

6.
Sci Rep ; 14(1): 11493, 2024 05 20.
Artigo em Inglês | MEDLINE | ID: mdl-38769328

RESUMO

The assessment of dietary intakes and habits using reliable and youth-specific measurement tools during adolescence is essential. The aim of the present study was to culturally adapt and investigate the psychometric properties of the Persian version of the food preferences questionnaire (Persian-FPQ) among Iranian adolescents. This methodological cross-sectional study was conducted among 452 Persian-speaking adolescents, living in Isfahan, Iran. Translation of the FPQ was performed using forward-backward method. Intra Class Correlation (ICC) and Cronbach's α were used to assess test-retest reliability and internal consistency, respectively. Construct validity was investigated by using exploratory factor analysis (EFA). Divergent validity was determined using correlation analysis with Kessler Psychological Distress Scale (K-10). Known-group validity was assessed based on differences in mean food preference score between boys and girls and different categories of body mass index (BMI). The internal and external reliabilities for the Persian-FPQ were in the range of good to excellent in all domains (Cronbach's α: 0.76-0.96 and ICCs: 0.982-0.998). Boys had higher scores of food preferences than girls, indicating good known-group validity. Construct validity evaluated by EFA led to extraction of seven factors ("Vegetables", "Fruit", "Dairy", "Snacks", "Meat/Fish", "Starches" and "Miscellaneous foods"), explaining 37.8% of the variance. Divergent validity revealed significant negative correlations between five sub-scales of the Persian-FPQ and psychological distress. The Persian version of the FPQ is a reliable and valid instrument with applicability in a broad range of the population of Persian-speaking adolescents for assessing food preferences in community-based research projects.


Assuntos
Preferências Alimentares , Psicometria , Humanos , Adolescente , Masculino , Feminino , Irã (Geográfico) , Preferências Alimentares/psicologia , Inquéritos e Questionários , Reprodutibilidade dos Testes , Estudos Transversais , Psicometria/métodos , Comportamento Alimentar/psicologia
7.
Soc Work Public Health ; 39(5): 434-443, 2024 Jul 03.
Artigo em Inglês | MEDLINE | ID: mdl-38651536

RESUMO

The study aimed to determine the application of the health belief model (HBM) in the acceptance of COVID-19 vaccination among health workers in 2021. The cross-sectional study was conducted on 3600 health workers from February to March 2021. Data was collected using a researcher-made questionnaire that included the intention to receive vaccines based on the health belief model constructs. Data were analyzed using descriptive statistics indicators, Chi-square, ANOVA test, and logistic regression model at a 95% confidence level. More than 62% of the participants intended to receive the vaccine. The odds of intention to receive the vaccine among people who worked in the health center and did not have a history of hospitalization due to COVID-19 disease were 1.50 and 2.10 units more than the others. Intention to receive the vaccine in individuals with high perceived sensitivity was 1.10 units. Furthermore, in terms of perceived benefits, self-efficacy, and cue-to-action constructs were 1.15, 1.34, and 1.65 units respectively. The rate of vaccine acceptance among Iranian health care workers was relatively good and the constructs of HBM in predicting the rate of intention to receive the vaccine had good applicability.


Assuntos
Vacinas contra COVID-19 , COVID-19 , Modelo de Crenças de Saúde , Pessoal de Saúde , Intenção , Humanos , Irã (Geográfico) , Estudos Transversais , Masculino , Feminino , Adulto , COVID-19/prevenção & controle , Pessoal de Saúde/psicologia , Inquéritos e Questionários , Pessoa de Meia-Idade , SARS-CoV-2
8.
Iran J Parasitol ; 19(1): 105-112, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38654952

RESUMO

Background: Intestinal parasitic infections are still a considerable global public health problem. We aimed to determine the frequency of intestinal parasitic infections among people referring to the central laboratory of Meshkin Shahr City, Ardabil Province, Iran. Methods: In this cross-sectional survey, 460 fecal samples were collected randomly from persons referred to the central laboratory of Meshkin Shahr City, from January to June 2022. The samples were examined by direct wet-mount, Trichrome and modified Ziehl-Neelsen staining, formalin ethyl acetate sedimentation, and agar plate culture. Results: The frequency of intestinal parasites was 15.7% (72 out of 460 cases), with some people with numerous intestinal parasites. The frequency of protozoan infections (13.9%) was higher than the helminthic infections (2.6%). Blastocystis spp. (8.1%) was the most prevalent detected intestinal protozoan. Entamoeba coli (5.7%), Dicrocoelium dendriticum (2.2%), Giardia lamblia (1.5%), Fasciola spp. (0.2%), and Hymenolepis nana (0.2%) were other detected parasites. Conclusion: In- spite of betterment of the health condition in Iran and reduction of parasitic infection, intestinal parasitic infections are still a considerable public health issue in some parts of Iran.

9.
Ann Med Surg (Lond) ; 86(4): 1983-1988, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38576912

RESUMO

Purpose: To compare the effects of cyclosporine 0.05% and artificial tears on dry eye disease following cataract surgery. Methods: This prospective, double-masked, randomized clinical trial enroled 60 eyes of 60 eligible cataract patients who completed the study. Patients were randomized to receive either cyclosporine 0.05% or artificial tear four times daily for 1 month following cataract surgery. Clinical assessments included refraction, corrected distance visual acuity, tear break-up time (TBUT), Schirmer's test, and the visual analogue scale (VAS). An independent sample t-test was used to compare the means of the variables between the two groups. Results: Mean patient age was 64.15±9.17 (range, 45-90), of which 53% (n=32) were female. There was no significant difference in mean age (P=0.308) between the two groups. One month postoperatively, the cyclosporine 0.05% group had a significantly higher TBUT value (P=0.004). Schirmer's result (P=0.095) and the VAS questionnaire scores (P=0.374) did not show a statistically significant difference between the two groups. There was no significant difference in the visual outcomes (P>0.05). Conclusion: Cyclosporine 0.05% was superior to artificial tears in improving tear stability after cataract surgery in the management of immediate postoperative dry eye. It may provide a more effective therapeutic option for the management of dry eye symptoms in the clinical setting.

10.
Int J Urol ; 31(7): 718-723, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38470159

RESUMO

OBJECTIVES: Infertility is inability to conceive after 12 months of regular unprotected sex. MiRNA expression changes can serve as potential biomarkers for infertility in males due to impaired spermatogenesis. This research was conducted to measure the expression level of miR-211 in plasma samples as a factor identifying infertility in comparison with the control group. METHODS: In this study, blood plasma were taken from the infertile men (n = 103) nonobstructive azoospermia (NOA) or severe oligozoospermia (SO) and the control group (n = 121). The expression of circulating miR-211 in plasma was assessed by qRT-PCR. A relative quantification strategy was adopted using the 2-ΔΔCT method to calculate the target miR-211 expression level in both study groups. RESULTS: Plasma miR-211 levels were significantly lower in infertile men compared to the control group (0.544 ± 0.028 and 1.203 ± 0.035, respectively, p < 0.001). Pearson's correlation analysis showed that miR-211 expression level has a positive and significant correlation with sperm parameters, including sperm concentration, sperm total motility, progressive motility, and normal morphology (p < 0.001). CONCLUSIONS: Decreased expression of miR-211 in blood plasma seems to be associated with male infertility. This experiment showed that miR-211 can be considered as a biomarker for evaluation, diagnosis, and confirmation of the results of semen analysis in male infertility.


Assuntos
Azoospermia , Biomarcadores , Regulação para Baixo , MicroRNAs , Oligospermia , Motilidade dos Espermatozoides , Humanos , Masculino , MicroRNAs/sangue , Adulto , Estudos de Casos e Controles , Azoospermia/sangue , Azoospermia/genética , Azoospermia/diagnóstico , Biomarcadores/sangue , Oligospermia/sangue , Oligospermia/genética , Oligospermia/diagnóstico , Contagem de Espermatozoides , Espermatozoides/metabolismo , Infertilidade Masculina/sangue , Infertilidade Masculina/genética , Infertilidade Masculina/diagnóstico , Espermatogênese/genética
11.
Dent Res J (Isfahan) ; 21: 17, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38476710

RESUMO

Background: The aim of the study was to investigate the morphometric parameters of dental pulp in open apices immature teeth in a sheep model after mechanical pulp exposure and restoration with reinforced zinc oxide-eugenol. Materials and Methods: In this experimental study, a total of 12 immature mandibular central incisors from six adult male sheep, weighing 30-40 kg and with the age of 1 year old with Merino race were examined. After anesthesia, the pulps of the teeth in the case group were mechanically exposed and then were restored with reinforced zinc oxide-eugenol and amalgam. In the control group, the teeth remained intact. The animals were sacrificed at intervals of 2, 4, 6, and 8 weeks (E2, E4, E6, and E8) in the case and 2 and 8 weeks (C2 and C8) in the control groups. Then, their teeth were removed with the surrounding supporting tissues and alveolar bones. Tissue processing and staining were done, and the sections were examined under a light microscope. The Kruskal-Wallis and Mann-Whitney U tests were used to analyze the data and compare the changes between the two groups. P < 0.05 was considered statistically significant. Results: In response to mechanical exposure, reparative or tertiary dentin was formed, and its thickness increased during the time of the study. The thickness of the odontoblastic layer in the E4 group was the highest amount. The pulp chamber diameter in the C2 group was significantly larger than the other groups, and the diameter of the apical foramen in the E8 was decreased significantly compared to the controls (P < 0.05). Conclusion: In response to mechanical exposure and restoration with reinforced zinc oxide-eugenol, some morphometric parameters of the dental pulp changed significantly in the sheep model compared to the controls.

12.
Nutr J ; 23(1): 31, 2024 Mar 06.
Artigo em Inglês | MEDLINE | ID: mdl-38444016

RESUMO

BACKGROUND: Sepsis, a life-threatening organ dysfunction caused by a host's dysregulated response to infection with an inflammatory process, becomes a real challenge for the healthcare systems. L-carnitine (LC) has antioxidant and anti-inflammatory properties as in previous studies. Thus, we aimed to determine the effects of LC on inflammation, oxidative stress, and clinical parameters in critically ill septic patients. METHODS: A randomized double-blinded controlled trial was conducted. A total of 60 patients were randomized to receive LC (3 g/day, n = 30) or placebo (n = 30) for 7 days. Inflammatory and oxidative stress parameters (C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), superoxide dismutase (SOD), malondialdehyde (MDA), total antioxidant capacity (TAC), 28-day mortality rate, and some monitoring variables were evaluated. RESULTS: There was no statistically significant difference between study arms in baseline characteristics and disease severity scores. CRP (p < 0.001) and ESR (p: 0.004) significantly reduced, and SOD (p < 0.001) and TAC (p < 0.001) significantly improved in the LC group after 7 days. Between-group analysis revealed a significant reduction in CRP (p: 0.001) and serum chloride (p: 0.032), an increase in serum albumin (p: 0.036) and platelet (p: 0.004) significantly, and an increase in SOD marginally (p: 0.073). The 28-day mortality rate was also lower in the LC group compared with placebo (7 persons vs. 15 persons) significantly (odds ratio: 0.233, p: 0.010). CONCLUSIONS: L-carnitine ameliorated inflammation, enhanced antioxidant defense, reduced mortality, and improved some clinical outcomes in critically ill patients with sepsis. TRIAL REGISTRATION: IRCT20201129049534N1; May 2021.


Assuntos
Antioxidantes , Sepse , Humanos , Antioxidantes/uso terapêutico , Estado Terminal , Inflamação/tratamento farmacológico , Estresse Oxidativo , Proteína C-Reativa , Sepse/tratamento farmacológico , Carnitina/uso terapêutico , Superóxido Dismutase , Suplementos Nutricionais
13.
Food Sci Nutr ; 12(3): 2016-2028, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38455215

RESUMO

Polycystic ovary syndrome (PCOS) is associated with reproductive disorders and adverse cardiometabolic risk factors that can negatively impact the general health of women. Inulin-type fructans (ITFs) are proposed to beneficially affect risk factors associated with metabolic disorders. Whether ITFs can help with the management of PCOS by modifying insulin resistance (IR) and androgen levels has not yet been explored. The aim of this study was to investigate the effects of ITFs with different degrees of polymerization on insulin resistance, blood lipids, anthropometric measures, and hormonal status in overweight and obese women with PCOS. In a randomized double-blind placebo-controlled trial, seventy-five women with PCOS aged 18-40 years old were randomly assigned to receive 10 g/day of high-performance inulin (HPI) or oligofructose-enriched inulin (OEI) or maltodextrin for 12 weeks. Biochemical and clinical outcomes were measured at baseline and after the intervention. Participants in the HPI and OEI groups experienced improvements in waist circumference, total testosterone, free androgen index, sex hormone-binding globulin, and triglycerides compared to the placebo group. Also, the number of women with irregular menses or oligomenorrhoea decreased significantly in both ITF groups. Participants in the HPI group reported lower body mass, fasting insulin, and HOMA-IR, as well as a higher quantitative insulin sensitivity check index. ITF supplementation, especially with long-chain ITFs, when given for 12 weeks may improve metabolic outcomes, androgen status and clinical manifestations in women with PCOS.

14.
Int Ophthalmol ; 44(1): 143, 2024 Mar 18.
Artigo em Inglês | MEDLINE | ID: mdl-38498296

RESUMO

PURPOSE: To evaluate the tear level of VEGF and the quantity of tear film in type 2 diabetic patients. METHODS: Thirty patients with diabetic retinopathy (DR group) and 30 patients with no DR (NDR group), and 30 healthy subjects with age and gender matching were enrolled in this prospective comparative study. The tear samples were collected using the Schirmer strips, and the amount of moisture absorbed by the strips was used to determine the quantitative level of the tear film. The concentration of VEGF in the tear samples was measured using the enzyme-linked immunosorbent assay method. The variables were compared with an independent t-test and covariance analysis. RESULTS: Mean tear level of VEGF was significantly higher in DR group (235.42 pg/ml) compared to NDR (75.11 pg/ml) and control (58.77 pg/ml) groups (P ≤ 0.001). There was no significant difference in the mean of VEGF between NDR and control patients (P = 1.00). Mean quantitative tear film levels were 7.15%, 9.72%, and 15.11% in DR, NDR, and healthy subjects, respectively (P < 0.05). The pairwise analysis showed significant differences in the level of VEGF between DR and both NDR (P = 0.001) and normal (P = 0.017) groups. However, there was no significant difference observed between NDR and normal eyes (P = 0.743). CONCLUSION: The VEGF level in tear was higher in diabetic patients with DR, independent of tear volume. The tear VEGF measurement can be used as a valuable predictor to prevent DR in diabetic patients.


Assuntos
Diabetes Mellitus Tipo 2 , Retinopatia Diabética , Humanos , Retinopatia Diabética/metabolismo , Fatores de Crescimento Endotelial/metabolismo , Diabetes Mellitus Tipo 2/complicações , Fator A de Crescimento do Endotélio Vascular/metabolismo , Estudos Prospectivos
15.
J Res Med Sci ; 29: 9, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38524745

RESUMO

Background: According to the report of the World Health Organization, mental disorders are one of the 10 most important causes of disability in the world. This study was conducted with the aim of determining the number and frequency of latent classes of depression and its determinants in Isfahan university of medical students. Materials and Methods: A total of 1408 medical students from Isfahan University of Medical Sciences, Iran, were enrolled in the study in 2017. The symptoms and severity of depression were assessed using the standard Hospital Anxiety and Depression scale questionnaire. Latent class analysis was applied to seven symptoms of depression, all of which had four levels. Latent class subgroups were compared using the Chi-square test and analysis of variance test. The regression model was used to check the relationship between identified classes and related factors. Analyzes were done using SPSS-21 and Mplus7 software. Results: In this study, three latent classes were identified, that is, the group of healthy people, the group of borderline people, and the group of people suspected of depression. The prevalence of identified latent classes among medical students is 0.52, 0.32, and 0.16%, respectively. The regression results showed that compared to the healthy group, the factors affecting depression in the borderline and suspicious group were increasing age, female gender, interest in the field of study, physical activity, history of depression, and history of anxiety. Conclusion: The three classes that were identified based on the students' answers to the depression symptoms questions differed only based on severity. The history of depression and anxiety were the strongest predictors of latent classes of depression.

16.
Am J Hum Genet ; 111(3): 584-593, 2024 Mar 07.
Artigo em Inglês | MEDLINE | ID: mdl-38417439

RESUMO

Variants of uncertain significance (VUSs) in BRCA2 are a common result of hereditary cancer genetic testing. While more than 4,000 unique VUSs, comprised of missense or intronic variants, have been identified in BRCA2, the few missense variants now classified clinically as pathogenic or likely pathogenic are predominantly located in the region encoding the C-terminal DNA binding domain (DBD). We report on functional evaluation of the influence of 462 BRCA2 missense variants affecting the DBD on DNA repair activity of BRCA2 using a homology-directed DNA double-strand break repair assay. Of these, 137 were functionally abnormal, 313 were functionally normal, and 12 demonstrated intermediate function. Comparisons with other functional studies of BRCA2 missense variants yielded strong correlations. Sequence-based in silico prediction models had high sensitivity, but limited specificity, relative to the homology-directed repair assay. Combining the functional results with clinical and genetic data in an American College of Medical Genetics (ACMG)/Association for Molecular Pathology (AMP)-like variant classification framework from a clinical testing laboratory, after excluding known splicing variants and functionally intermediate variants, classified 431 of 442 (97.5%) missense variants (129 as pathogenic/likely pathogenic and 302 as benign/likely benign). Functionally abnormal variants classified as pathogenic by ACMG/AMP rules were associated with a slightly lower risk of breast cancer (odds ratio [OR] 5.15, 95% confidence interval [CI] 3.43-7.83) than BRCA2 DBD protein truncating variants (OR 8.56, 95% CI 6.03-12.36). Overall, functional studies of BRCA2 variants using validated assays substantially improved the variant classification yield from ACMG/AMP models and are expected to improve clinical management of many individuals found to harbor germline BRCA2 missense VUS.


Assuntos
Neoplasias da Mama , Predisposição Genética para Doença , Humanos , Feminino , Proteína BRCA2/genética , Testes Genéticos , Mutação de Sentido Incorreto/genética , Neoplasias da Mama/genética , Neoplasias da Mama/patologia , Células Germinativas/patologia , DNA
17.
Environ Mol Mutagen ; 65(1-2): 76-83, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38299759

RESUMO

One type of epigenetic modification is genomic DNA methylation, which is induced by smoking, and both are associated with male infertility. In this study, the relationship between smoking and CHD5 gene methylation and semen parameters in infertile men was determined. After the MS-PCR of blood in 224 samples, 103 infertile patients (62 smokers and 41 non-smokers) and 121 fertile men, methylation level changes between groups and the effect of methylation and smoking on infertility and semen parameters in infertile men were determined. The results showed that there is a significant difference in the methylation status (MM, MU, UU) of the CHD5 gene between the patient and the control group, and this correlation also exists for the semen parameters (p < .001). The average semen parameters in smokers decreased significantly compared to non-smokers and sperm concentration was (32.21 ± 5.27 vs. 55.27 ± 3.38), respectively. MM methylation status was higher in smokers (22.5%) compared to non-smokers (14.6%). Smoking components affect the methylation pattern of CHD5 gene, and smokers had higher methylation levels and lower semen parameters than non-smokers, which can be biomarkers for evaluating semen quality and infertility risk factors. Understanding the epigenetic effects of smoking on male infertility can be very useful for predicting negative consequences of smoking and providing therapeutic solutions.


Assuntos
Infertilidade Masculina , Sêmen , Humanos , Masculino , Fumar/efeitos adversos , Fumar/genética , Análise do Sêmen , Infertilidade Masculina/genética , Metilação de DNA/genética , Espermatozoides , DNA Helicases , Proteínas do Tecido Nervoso
18.
Graefes Arch Clin Exp Ophthalmol ; 262(4): 1017-1039, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37418053

RESUMO

PURPOSE: This review was designed to compare different corneal imaging modalities using artificial intelligence (AI) for the diagnosis of keratoconus (KCN), subclinical KCN (SKCN), and forme fruste KCN (FFKCN). METHODS: A comprehensive systematic search was conducted in scientific databases, including Web of Science, PubMed, Scopus, and Google Scholar based on the PRISMA statement. Two independent reviewers assessed all potential publications on AI and KCN up to March 2022. The Critical Appraisal Skills Program (CASP) 11-item checklist was used to evaluate the validity of the studies. Eligible articles were categorized into three groups (KCN, SKCN, and FFKCN) and included in the meta-analysis. The pooled estimate of accuracy (PEA) was calculated for all selected articles. RESULTS: The initial search yielded 575 relevant publications, of which 36 met the CASP quality criteria and were included in the analysis. Qualitative assessment showed that Scheimpflug and Placido combined with biomechanical and wavefront evaluations improved KCN detection (PEA, 99.2, and 99.0, respectively). The Scheimpflug system (92.25 PEA, 95% CI, 94.76-97.51) and a combination of Scheimpflug and Placido (96.44 PEA, 95% CI, 93.13-98.19) had the highest diagnostic accuracy for the detection of SKCN and FFKCN, respectively. The meta-analysis outcomes showed no significant difference between the CASP score and accuracy of the publications (all P > 0.05). CONCLUSIONS: Simultaneous Scheimpflug and Placido corneal imaging methods provide high diagnostic accuracy for early detection of keratoconus. The use of AI models improves the discrimination of keratoconic eyes from normal corneas.


Assuntos
Ceratocone , Humanos , Ceratocone/diagnóstico , Topografia da Córnea/métodos , Inteligência Artificial , Córnea , Paquimetria Corneana , Curva ROC
19.
Clin Exp Optom ; 107(1): 32-39, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37121670

RESUMO

CLINICAL RELEVANCE: Accurate thickness measurement of corneal layers using anterior segment OCT can be used to improve visual outcomes. Understanding its applications is essential for optometric practices to enhance eye care procedures. BACKGROUND: To evaluate the thicknesses of different corneal layers for identifying keratoconus (KCN) and subclinical keratoconus (SKCN) using spectral-domain optical coherence tomography (SD-OCT). METHODS: This prospective study analyzed 60 eyes with KCN, 48 eyes with SKCN, and 53 normal eyes. The central corneal thickness (CCT) and thicknesses of the epithelium, Bowman, stroma, and Descemet-endothelium layers were measured using SD-OCT. One way analysis of variance and the area under the curve (AUC) were used to evaluate the parameters. The Delong method was used to compare AUCs. RESULTS: In KCN, CCT and thicknesses of epithelium, Bowman, stroma, and Descemet-endothelium layers were 495.5 ± 41.7, 52.6 ± 6.4,11.5 ± 1.4, 415.5 ± 38.9, and 12.3 ± 1.7 µm, respectively. These thickness values were respectively 524.5 ± 33.3, 56.8 ± 6.8, 11.5 ± 1.6, 439.8 ± 30.6, and 12.4 ± 1.7 µm in SKCN and 563.8 ± 37.9, 57.7 ± 6.9, 12.2 ± 1.6, 469.5 ± 33.7, and 12.8 ± 2.1µm in normal group. Total cornea and stroma in KCN and SKCN, and epithelium in KCN were significantly thinner compared to the normal group (P < 0.001). The highest AUC values were observed for CCT in KCN (AUC 0.90) and SKCN (AUC 0.782). The diagnostic accuracy was significantly higher for stromal thickness in KCN (sensitivity 81.7%, specificity 73.6%, AUC 0.871) and SKCN (sensitivity 80.0%, specificity 56.6%, AUC 0.751) than other individual corneal layers (Delong, P < 0.001) . CONCLUSION: CCT can accurately distinguish keratoconus from normal eyes. However, central corneal stromal thinning was the most sensitive diagnostic index for early detection of SKCN. Developing standardized stromal maps may be helpful for detecting SKCN.


Assuntos
Ceratocone , Humanos , Ceratocone/diagnóstico por imagem , Tomografia de Coerência Óptica/métodos , Estudos Prospectivos , Córnea/diagnóstico por imagem , Topografia da Córnea , Paquimetria Corneana
20.
Int J Biol Markers ; 39(1): 52-58, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38055975

RESUMO

BACKGROUND: Gastric cancer is a common cancer developed in a carcinogenesis process from precancerous lesions including chronic gastritis, intestinal metaplasia, and dysplasia. Survivin, an inhibitor-of-apoptosis protein, is associated with the initiation and progression of gastric cancer. The present study aimed to evaluate the immunohistochemical expression patterns of survivin and its relationship with early diagnosis of gastric cancer in Iranian patients. METHODS: In this retrospective case-control study, immunoexpression of survivin was investigated on sections obtained from formalin-fixed paraffin-embedded tissue blocks of 38 chronic gastritis, 32 intestinal metaplasia, 20 dysplasia, 28 gastric adenocarcinoma, and 22 controls. RESULTS: Survivin immunoexpression in chronic gastritis was higher than controls, but this difference was not statistically significant (P > 0.05). However, survivin immunoexpression had a steady significant increase from control and chronic gastritis to intestinal metaplasia to dysplasia to gastric adenocarcinoma (P < 0.05). Sensitivity, specificity, and area under the curve of survivin immunohistochemical test for the diagnosis of gastric cancer were 87.5%, 74.4%, and 0.85, respectively. Males had a significantly higher survivin expression than females (P < 0.001). Also, survivin expression was significantly higher in older patients than in younger ones (P < 0.001). CONCLUSION: It seems that the steady increase in survivin expression from different precancerous lesions to gastric adenocarcinoma suggests that survivin can be used as a potential biomarker for the prevention and early diagnosis of gastric cancer.


Assuntos
Adenocarcinoma , Gastrite , Lesões Pré-Cancerosas , Neoplasias Gástricas , Masculino , Feminino , Humanos , Idoso , Survivina/metabolismo , Estudos Retrospectivos , Estudos de Casos e Controles , Mucosa Gástrica/metabolismo , Mucosa Gástrica/patologia , Neoplasias Gástricas/patologia , Irã (Geográfico) , Detecção Precoce de Câncer , Adenocarcinoma/patologia , Biomarcadores , Lesões Pré-Cancerosas/diagnóstico , Lesões Pré-Cancerosas/patologia , Gastrite/diagnóstico , Gastrite/metabolismo , Gastrite/patologia , Metaplasia/metabolismo , Metaplasia/patologia
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