Mitochondrial dysfunction and its association with age-related disorders.

Aging is a complex process that features a functional decline in many organelles. Various factors influence the aging process, such as chromosomal abnormalities, epigenetic changes, telomere shortening, oxidative stress, and mitochondrial dysfunction. Mitochondrial dysfunction significantly impacts aging because mitochondria regulate cellular energy, oxidative balance, and calcium levels. Mitochondrial integrity is maintained by mitophagy, which helps maintain cellular homeostasis, prevents ROS production, and protects against mtDNA damage. However, increased calcium uptake and oxidative stress can disrupt mitochondrial membrane potential and permeability, leading to the apoptotic cascade. This disruption causes increased production of free radicals, leading to oxidative modification and accumulation of mitochondrial DNA mutations, which contribute to cellular dysfunction and aging. Mitochondrial dysfunction, resulting from structural and functional changes, is linked to age-related degenerative diseases. This review focuses on mitochondrial dysfunction, its implications in aging and age-related disorders, and potential anti-aging strategies through targeting mitochondrial dysfunction.

A 12-year Life History of a Girl with Profound Intellectual Disability and Leukoencephalopathy: A Rare Clinical Presentation of X Chromosome Pentasomy.

This paper presents a unique 12-year case analysis of a girl with Penta-X syndrome, a chromosomal abnormality characterized by five X chromosomes instead of the normal two in healthy women. Pentasomy of X is a genetic, but not a hereditary disease affecting only women. Our patient demonstrated delayed mental, speech, and motor development along with physical anomalies such as craniofacial deformities, and eye pathology and was diagnosed with pentasomy of the X chromosome at the age of 3 after a cytogenetic examination. She developed epileptic seizures at the age of nine. Magnetic resonance imaging(MRI) revealed leukoencephalopathy with ventriculomegaly. The peculiarity of this observation is that the polysomy 49, XXXXX detected in the patient is characterized by a typical phenotypic presentation combined with demyelinating leukoencephalopathy, which has not been a typical feature of the disorder.

Prevalence of karyotype alterations in couples with recurrent pregnancy loss in a tertiary center in Brazil.

Objective: To assess the prevalence and type of chromosomal abnormalities in Brazilian couples with recurrent pregnancy loss (RPL) and compare the clinical characteristics of couples with and without chromosome abnormalities. Methods: We assessed the medical records of 127 couples with a history of two or more miscarriages, referred to a tertiary academic hospital in Belo Horizonte, Brazil, from January 2014 to May 2023. Karyotype was generated from peripheral blood lymphocyte cultures, and cytogenetic analysis was performed according to standard protocols by heat-denatured Giemsa (RHG) banding. Results: Abnormal karyotypes were detected in 10 couples (7.8%). The prevalence of chromosomal abnormalities was higher among females (6.3%) compared to males (2.0%), but this difference was not statistically significant (p=0.192). The mean number of miscarriages was. 3.3 ± 1.1 in couples with chromosome abnormalities and 3.1 ± 1.5 in couples without chromosome abnormalities (p=0.681). Numerical chromosomal anomalies (6 cases) were more frequent than structural anomalies. Four women presented low-grade Turner mosaicism. No differences were found between couples with and without karyotype alterations, except for maternal age, which was higher in the group with chromosome alterations. Conclusion: The prevalence of parental chromosomal alterations in our study was higher than in most series described in the literature and was associated with increased maternal age. These findings suggest that karyotyping should be part of the investigation for Brazilian couples with RPL, as identifying the genetic etiology may have implications for subsequent pregnancies.

Enhancement of the Clastogenic Effects of Topotecan In Vivo by Tyrosyl-DNA Phosphodiesterase 1 Inhibitors.

Topotecan administered intraperitoneally at single doses of 0.25, 0.5, and 1 mg/kg induced chromosomal aberrations in bone marrow cells of F1(CBA×C57BL/6) hybrid mice in a dose-dependent manner. A tyrosyl-DNA phosphodiesterase 1 (TDP1) inhibitor, an usnic acid derivative OL9-116 was inactive in a dose range of 20-240 mg/kg, but enhanced the cytogenetic effect of topotecan (0.25 mg/kg) at a dose of 40 mg/kg (per os). The TDP1 inhibitor, a coumarin derivative TX-2552 (at doses of 20, 40, 80, and 160 mg/kg per os), increased the level of aberrant metaphases induced by topotecan (0.25 mg/kg) by 2.1-2.6 times, but was inactive at a dose of 10 mg/kg. The results indicate that TDP1 inhibitors enhance the clastogenic activity of topotecan in mouse bone marrow cells in vivo and are characterized by different dose profiles of the co-mutagenic effects.

The Role of the JAK-STAT Pathway in Childhood B-Cell Acute Lymphoblastic Leukemia.

B-cell lymphoblastic leukemia is a hematologic neoplasm that poses a serious health concern in childhood. Genetic aberrations, such as mutations in the genes IL-7, IL7R, JAK1, JAK2, TLSP, CRLF2, and KTM2A or gene fusions involving BCR::ABL1, ETV6::RUNX1, and PAX5::JAK2, often correlate with the onset of this disease. These aberrations can lead to malfunction of the JAK-STAT signaling pathway, which is implicated in various important biological processes, including those related to immunology. Understanding the mechanisms underlying the malfunction of the JAK-STAT pathway holds potential for research on drugs targeting its components. Available drugs that interfere with the JAK-STAT pathway include fludarabine, ruxolitinib, and fedratinib.

Optimization of Ray-Tracing-Guided LASIK Outcomes: A Prospective Comparative Study of ZZ InnovEyes Strategy versus Automated Strategy.

Purpose: To evaluate the effectiveness of Zhang and Zheng's InnovEyes (ZZ InnovEyes) strategy for optimizing outcomes of ray-tracing-guided laser in situ keratomileusis (LASIK) compared to the standard automated strategy. Methods: A total of 38 patients (71 eyes) undergoing therapeutic refractive surgery at Hangzhou MSK Eye Hospital were randomly assigned to the ZZ InnovEyes and automated groups using double-masked randomization. The study assessed visual acuity, refractive outcomes, and higher-order aberrations preoperatively and at 1-day, 2-week, 1-month, and 3-month follow-ups. Statistical analysis was done with Microsoft Excel and SPSS 19.0. Results: The exposure and control groups comprised 36 and 35 eyes, respectively. The ZZ InnovEyes group demonstrated significant advantages in manifest refraction spherical equivalent (MRSE) correction compared to the automated approach group (0.13 ± 0.30 D vs 0.62 ± 0.40 D, p < 0.001), achieving 97.22% uncorrected distance visual acuity (UDVA) of 20/16 or better compared to 85.71% in the automated group at the 3-month follow-up (p = 0.08), and achieving 50.00% UDVA of 20/12.5 or better compared to 28.57% in the automated group at the 3-month follow-up (p = 0.06). Loss lines from preoperative corrected distance visual acuity to postoperative UDVA were lower in the ZZ InnovEyes group (0.00%) than the automated group (8.57%; p = 0.07). Both groups exhibited similar astigmatism corrections and higher-order aberrations. Conclusion: The ZZ InnovEyes strategy, which incorporates manifest and wavefront refraction for ray-tracing-guided LASIK, demonstrated superior MRSE correction and potential advantages in visual acuity outcomes compared to the standard automated strategy. This study highlights the need for ongoing optimization and research in refractive surgery. Clinical Trial Registration Number: ChiCTR2300078709.

Three-Month Comprehensive Outcomes of Topography-Guided LASIK Versus Keratorefractive Lenticule Extraction (KLEx): A Prospective Contralateral Study.

INTRODUCTION: The aim of this study was to compare outcomes of topography-guided laser-assisted in situ keratomileusis (TG-LASIK) and small incision lenticule extraction (SMILE®) for correcting myopia and myopic astigmatism. METHODS: In this prospective, randomized contralateral study, 34 patients (68 eyes) received TG-LASIK in one eye, and SMILE in their fellow eye. Efficacy, safety, predictability, higher-order aberrations, corneal tomography, biomechanics, and patient-reported outcomes (PROs) were assessed preoperatively and up to 3 months postoperatively. RESULTS: Both platforms showed comparable efficacy at 3 months (TG-LASIK 1.08 ± 0.19; SMILE 0.98 ± 0.17, p = 0.055). However, TG-LASIK demonstrated quicker visual recovery, with 63% and 89% achieving uncorrected distance visual acuity (UDVA) of 20/16 or better at 1 day and 1 week, respectively, compared to SMILE (34% and 63%; p < 0.05). Safety index at 3 months did not significantly differ between TG-LASIK and SMILE (p = 0.223). TG-LASIK and SMILE had 44% and 56% of eyes within 0.13 D of spherical equivalent (SEQ) target, respectively. SMILE induced more total higher-order aberrations (HOAs), vertical coma, and oblique trefoil than TG-LASIK at 3 months (p < 0.05). Both platforms showed similar increases in epithelial remodeling, but SMILE induced thicker epithelium than TG-LASIK at the 7.0-mm nasal zonal area. No significant differences were found in corneal hysteresis (CH) or corneal resistance factor (CRF) at 3 months (p > 0.05). Reported symptoms of glare, halos, rings, starbursts, or dry eye did not significantly differ between groups at 3 months (p > 0.05). Overall, 59% of patients preferred their TG-LASIK treated eye at 1 month, but 65% of patients had no specific eye preference at 3 months. CONCLUSION: TG-LASIK and SMILE demonstrate excellent and comparable efficacy, safety, and predictability at 3 months, but TG-LASIK offers faster postoperative visual recovery at 1 day and 1 week. TG-LASIK induces fewer HOAs than SMILE, but both procedures affect corneal biomechanics similarly. TRIAL REGISTRATION: ClincialTrials.gov identifier, NCT05611294.

Efficacy of estimations of Hartmann-Shack sensors in small pupil sizes.

PURPOSE: The purpose of this study was to evaluate the in vivo efficacy of the estimations of wavefront analyzers using Hartmann-Shack technology to measure optical aberrations when the pupil size is smaller than the evaluated pupil area. METHODS: Patients implanted with the monofocal ZCB00 intraocular lens (Johnson and Johnson) were examined with the KR-1W Wavefront Analyzer (Topcon) without pharmacological mydriasis and with it afterward. Optical aberrations were analyzed considering a 4-mm pupil and a 6-mm pupil for both examinations. RESULTS: Sixty-six eyes of 33 patients with a mean axial length of 23.35 ± 0.91 mm were assessed. The mean pupil diameter at the baseline examination was 5.05 ± 0.88 mm and under pharmacological mydriasis, it was 6.29 ± 0.84 mm. Outcomes were similar with and without dilation in the 4-mm comparison. However, there was a great disparity in the 6-mm comparison. Most of the values obtained under mydriasis were statistically lower than at baseline (P < 0.05). CONCLUSION: The iris interferes with measurements of wavefront aberrations, and therefore, real pupil size should always be checked before evaluating optical aberrations with Hartman-Shack sensors. When pupil size is smaller than the analyzed diameter, ocular, and internal, and sometimes, corneal aberrations are estimated far more positive than real values.

Cytogenetic validation of DS02R1-estimated dose for atomic bomb survivors in Hiroshima and Nagasaki with FISH.

INTRODUCTION: For Hiroshima and Nagasaki survivors, it has not been possible to calculate individual doses from the cytogenetic data and compare them with the physically estimated doses. This is because the cytogenetic studies used solid Giemsa staining which only provides the percent of cells bearing at least one stable-type aberration (most of the unstable-type aberrations had already disappeared), and a gamma-ray dose plus a 10-times neutron dose was used to integrate the data for both cities. OBJECTIVES: To compare the FISH-derived gamma-ray dose with the DS02R1-derived gamma-ray dose after correcting for a contribution of the neutron dose. It was also an attempt to determine if the frequency of stable-type aberrations had remained unchanged after the exposure. METHODS: Stable exchange-type aberration data was obtained using the 2-color FISH method from 1,868 atomic bomb survivors in Hiroshima and Nagasaki. The collected frequency was first extended to a genome-equivalent frequency. Then, by using known induction rates of exchange-type aberrations in vitro caused by neutrons and gamma-rays, respectively, and the mean relationship between the neutron and gamma-ray doses in the DS02R1 estimates for the survivors, the gamma-ray effect was estimated from the total yield of translocations. RESULTS: It was found that over 95% of individual cytogenetic gamma-ray doses fell within the expected range of plus/minus about 1 Gy from the DS02R1 dose and the mean slope for the linear regression was 0.98, which reassures us of the validity of the DS02R1 study. CONCLUSIONS: The present results demonstrate the validity of the individual DS02R1 doses, and that the frequency of stable-type aberrations in blood lymphocytes did not decay over the years, and thus is useful for retrospective dose evaluations of exposures which took place in the distant past.

Radioprotective Effect of Resveratrol, Crocin, and Their Combination on Cytogenetic Alterations in Human Lymphocytes.

Background: High-dose radiation altering the genetic material in patients' bone marrow cells can lead to hematopoietic radiation syndrome. Accordingly, the presence of radiation protections agents is critical to preventing these adverse effects. Objective: This study aimed to evaluate the radioprotection of the exclusive or combination effect of resveratrol and crocin extracts at various concentrations on irradiated human lymphocytes. Material and Methods: In this experimental study, the 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) method was used to evaluate the cell viability in pre-treatment with resveratrol, crocin, or a combination of both, using a concentration range of 5 to 4800 µM / ml in 24 h. The chromosomal aberration test was employed to determine the aberration frequency in 48 h. This study was performed on human peripheral blood lymphocytes treated with 2 Gy radiation and reliability of measurements performed by the triplicate repeat. Results: MTT results showed that the groups treated with either resveratrol or crocin at concentrations of 5 to 4800 µM had no significant reduction in cell viability. The cytogenetic analysis of irradiated lymphocytes with 2 Gy X-rays revealed a reduction in the frequency of dicentric chromosomes in all treated groups in contrast with the control group. The most significant reduction occurred in those treated with a single agent at the concentration of 100 µM and a combined drug at the concentration of 50 µM. Conclusion: The combination of resveratrol and crocin is considered a potential radioprotector and prophylactic for patients before radiation therapy.

Comparative analysis of the yields of dicentrics and chromosomal translocations.

PURPOSE: Chromosomal dicentrics and translocations are commonly employed as biomarkers to estimate radiation doses. The main goal of this article is to perform a comparative analysis of yields of both types of aberrations. The objective is to determine if there are relevant distinctions between both yields, allowing for a comprehensive assessment of their respective suitability and accuracy in the estimation of radiation doses. MATERIALS AND METHODS: The analysis involved data from a partial-radiation simulation study with the calibration data obtained through two scoring methods: conventional and PAINT modified. Subsequently, a Bayesian bivariate zero-inflated Poisson model was employed to compare the posterior marginal density of the mean of dicentrics and translocations and assess the differences between them. RESULTS: When employing the conventional method of scoring, the findings indicate that there is no notable disparity between the yield of observed translocations and dicentrics. However, when utilizing the PAINT modified method, a notable discrepancy is observed for higher doses, indicating a relevant difference in the mean number of the two types of aberrations. CONCLUSIONS: The choice of scoring method significantly influences the analysis of radiation-induced aberrations, especially when distinguishing between complex and simple chromosomal formations. Further research and analysis are necessary to gain a deeper understanding of the factors and mechanisms impacting the formation of dicentrics and translocations.

Exploring the role of 28-homobrassinolide in regulation of temperature induced clastogenic aberrations and sugar metabolism of Brassica juncea L.

The present research primarily focuses on Brassica juncea's physiological and cytological responses to low and high temperature stress at 4 °C and 44 °C respectively, along with elucidating the protective role of 28-Homobrassinolide (28-homoBL). Cytological investigations performed in floral buds of Brassica juncea L. under temperature (24, 4, 44 °C) stress conditions depict the presence of some abnormalities associated with cytomixis such as chromosome stickiness or agglutination, pycnotic nature of chromatin, irregularities in spindle formation, disoriented chromatins, and non-synchronous chromatin material condensation in Brassicaceae family that subsisted at diploid level (2n = 36). Spindle abnormalities produce various size pollen grains such as sporads micronuclei at some stages of microsporogenesis, polyads, triads, dyads that irrupted the productiveness of pollen grains. Furthermore, sugars play an imperative role in protecting plants under stress besides being energy sources. Therefore, the present study revealed accumulation of total soluble sugars (TSS), with 28-homoBL treatment which pinpoints protective role of 28-homoBL under temperature stress. Sugar profiling was done by using high-performance liquid chromatography (HPLC) which helped in analyzing different sugars both quantitatively and qualitatively under 28-homoBL and temperature stress conditions. The results indicate that the 28-homoBL treatment substantially enhances plant tolerance to heat stress, as evident by higher mitotic indices, fewer chromosomal abnormalities, and significantly more sugar accumulation. The findings of the study acknowledge the potential of 28-homoBL in inducing temperature stress tolerance in B. juncea along with improving the metabolic stability thereby implying application of 28-homoBL in crop strengthening under variable temperature conditions.

Changes in Corneal Dynamics and Effective Optical Zone After Transepithelial Photorefractive Keratectomy for Myopia.

Objectives: The objective of this study was to analyze the changes in the effective optical zones (EOZ) using topographic techniques on the tangential curvature difference map at post-operative 1-year following transepithelial photorefractive keratectomy (T-PRK) and to identify parameters linked to the EOZ alterations. Methods: The study comprised 55 eyes of 55 myopic patients who underwent T-PRK. EOZs were measured using the tangential curvature difference map of the Scheimpflug tomography system. Correlations between the EOZ alterations and relevant parameters were assessed. Results: The EOZ was significantly lower than the programmed optical zone (p<0.001). The decrease in the EOZ was significantly relevant to the decrease in mean keratometry (p=0.01, B/95% confidence interval [CI]: 0.139/0.033 and 0.244, standardized Beta: 0.346) and the increase in maximum keratometry (p=0.003, B/95% CI: 0.072/0.026 and 0.118, standardized Beta: 0.406). Conclusion: The EOZ decreased in the 1st year after T-PRK in eyes with myopia. The decrease in the EOZ was correlated positively with the decrease in mean and maximum keratometry. T-PRK may be an effective and safe surgery for the correction of mild-to-moderate myopia.

Effect of congenital ptosis on corneal topography and total aberrometry and comparison of these variables between ptotic and normal fellow eyes.

PURPOSE: To analyze the effect of congenital ptosis on corneal topography and total aberrometry and to compare these variables between ptotic and normal fellow eyes. METHODS: The study included 32 eyes of 16 patients with unilateral congenital blepharoptosis. A Shack-Hartmann wavefront sensor was employed to assess Zernike coefficients and root-mean-square. Computerized corneal topography, Orbscan and aberrometry were measured in the healthy and ptotic eyes. Data were analyzed using SPSS version 16. P<0.05 was considered significant. RESULTS: The mean patient age was 21.31±6.3 years. The mean margin to light reflex distance-1 (MRD-1) was 0.6±1.44mm in the ptotic eyes. Among topography variables, surface regularity index (SRI), cylinder power, irregular astigmatism index (IAI), and flat meridian keratometry were significantly different between ptotic and non-ptotic fellow eyes (P<0.05). Some Orbscan parameters, including simulated keratometry, maximum and minimum corneal power, and astigmatism power were significantly different between ptotic and normal fellow eyes (P<0.05). There was no statistically significant difference in total aberrometry variables between paired eyes. However, in a comparison between ptotic eyes with over 1 diopter astigmatism vs. less than 1 D, high-order Zernike modes without spherical aberration at 6mm (HOW/O Z400 6mm) were significantly different between the 2 groups (P=0.02). CONCLUSION: Unilateral congenital ptosis significantly affects corneal topography and aberrometry, especially in eyes with astigmatism≥1 D. Such differences need to be considered before keratorefractive surgery (KRS).

Biologic and Clinical Characteristics of Isochromosome der(17)(q10)t(15;17) in Acute Promyelocytic Leukemia.

INTRODUCTION: Acute promyelocytic leukemia (APL) is genetically characterized by the fusion of promyelocytic leukemia (PML) gene with retinoic acid receptor alpha (RARα) resulting from a t(15;17)(q24;q21) chromosomal translocation. An infrequent but recurrent finding in APL is the formation of an isochromosome of the derivative chromosome 17; ider(17)(q10)t(15;17) or ider(17q). This rearrangement in APL results in an additional copy of the PML-RARα fusion gene as well as loss of 17p/TP53. Due to the infrequent occurrence of the ider(17q), the prognostic impact of this genetic finding is not well known. Case Presentation(s): Here, we describe the clinical characteristics and outcomes of our case series of 5 patients with ider(17q) APL treated at the University of Maryland and Johns Hopkins University. CONCLUSION: In our series, patients with APL with ider(17q) did not have a worse prognosis.

Spindle Cell Lesions with Oncogenic EGFR Kinase Domain Aberrations: Expanding the Spectrum of Protein Kinase-Related Mesenchymal Tumors.

EGFR aberrations are reported in a subset of myofibroblastic lesions with kinase domain duplication (EGFR-KDD) and exon 20 mutations being assigned to infantile fibrosarcomas (IFS), mesoblastic nephroma, and fibrous hamartoma of infancy (FHI), respectively. In this retrospective study, we correlated molecular findings with the histomorphology of 14 myofibroblastic lesions harboring such genetic changes identified by NGS. We additionally performed DNA methylation profiling (DNAmp) and immunohistochemistry. Lesions were from 10 males and 4 females with a mean age of 3 years (range, 0.3-14) and occurred subcutaneously in the upper limbs (n = 5), lower limbs (n = 3), back/thorax (n = 5), and the nasal cavity (n = 1). Eleven were cured by surgery, including 1 relapsed case. Two patients were lost to follow-up. One case was very recent, and the patient was biopsied. Histologically, the lesions showed a wide spectrum varying from classic FHI (n = 9) to IFS (n = 1) or lipofibromatosis-like tumors (LFT-like) (n = 2) or dermatofibrosarcoma protuberans-like (DFSP-like) (n = 1) to a predominantly myxoid spindle cell lesion (n = 1). Immunohistochemically, all neoplasms stained with CD34, whereas S100 was positive in 2/14. EGFR expression was observed in 9/10 cases. Molecularly, the IFS and 1 LFT-like harbored EGFR-KDD, whereas an exon 20 mutation was identified in all FHI, 1 LFT-like, the DFSP-like, and in predominant myxoid spindle cell lesion. By DNAmp, all but 2 cases formed a well-defined cluster, demonstrating that these lesions are also epigenetically related. In conclusion, EGFR kinase domain aberrations found in FHI, IFS, LFT-like, DFSP-like, and a spindle cell lesion with a predominant myxoid stroma of children and adolescents showed that these neoplasms with a broad morphologic spectrum belong to the group of protein kinase-related lesions with a distinct epigenetic signature. Molecular analyses, including DNAmp, help to identify and characterize this emerging category and become mandatory when targeted treatment is considered.

Cytogenetic Alterations and Correlation with Age and Gender in Patients of Multiple Myeloma: A Study from a Tertiary Care Center in Eastern India.

Karuna JhaBackground Multiple myeloma is a cytogenetically heterogeneous, evolving, and incurable disease. Differences in prevalence of myeloma already exist in Indian subcontinent as compared with Western world countries. This study attempts to investigate differences in incidence of cytogenetic abnormalities (CA) in Eastern Indian patients and study differences in incidence with respect to age and gender. Materials and Methods Interphase fluorescence in situ hybridization (FISH) was applied on purified plasma cells of 280 newly diagnosed myeloma cases using specific probes. Statistical Analysis Data was analyzed using SPSS software version 25. Results Note that 51.07% patients were FISH positive. Del13q was the most common CA. Significant association of del 13q with t(4;14), del 17p, and gain of 1q was seen. The frequencies of FISH positive and negative groups differed in the different age groups; higher number of cases in 41 to 50 years group in FISH positive group ( p < 0.05) and lower number of cases in FISH positive group in 61 to 70 years ( p < 0.05) as compared with FISH negative group. Del 17p had higher number of cases in age group 41 to 50 years and 51 to 60 years as compared with other age groups. Incidence of t(11;14) was in 5th to 7th decade while del 13q and t(4;14) had the widest range of age at presentation. Gender disparities were seen in high-risk cytogenetics like del 17p and 1q gain. Conclusion The differences in incidence rate of CAs per se in myeloma cases diagnosed in Indian subcontinent and the differences in incidence with respect to age and gender warrant further multicentric studies.

Comparing the Early Changes in Classified Higher-Order Aberrations Before and After Non-Toric and Toric Implantable Collamer Lens V4c Implantation.

PURPOSE: This study aimed to compare early changes in classified higher-order aberrations (HOAs) pre- and postsurgery in patients who received nontoric versus toric implantable collamer lenses (ICL; ICL Model V4c; STAAR Surgical, Monrovia, CA, USA). METHODS: This prospective study included 124 eyes of 64 patients: 49 eyes were treated using a nontoric implantable collamer lens (ICL), and 75 eyes were treated using a toric implantable collamer lenses (TICL). Refractive parameters and ocular aberrations were examined before and 1 month after surgery. RESULTS: At one month, the safety indices were 1.24 ± 0.17 in the ICL group and 1.20 ± 0.25 in the TICL group (p = 0.39). The efficacy indices were 1.07 ± 0.17 in the ICL group and 1.15 ± 0.26 in the TICL group (p = 0.02). The root mean square (RMS) values of whole-eye total HOAs, trefoil, corneal total HOAs, spherical aberration, and intraocular spherical aberration significantly increased postoperatively in both groups. The RMS of intraocular total HOAs in the TICL group significantly increased 1 month postoperatively. No statistically significant differences were observed in HOA changes between the ICL and TICL groups. CONCLUSIONS: The dominant increases in short-term aberrations after ICL and TICL V4c implantation were in corneal trefoil and intraocular spherical aberrations, which were related to the corneal incision and implanted lens. The HOA changes post-surgery were not statistically different between the two lens types.

The New Era of Cancer Cytogenetics and Cytogenomics.

The promises of the cancer genome sequencing project, combined with various -omics technologies, have raised questions about the importance of cancer cytogenetic analyses. It is suggested that DNA sequencing provides high resolution, speed, and automation, potentially replacing cytogenetic testing. We disagree with this reductionist prediction. On the contrary, various sequencing projects have unexpectedly challenged gene theory and highlighted the importance of the genome or karyotype in organizing gene network interactions. Consequently, profiling the karyotype can be more meaningful than solely profiling gene mutations, especially in cancer where karyotype alterations mediate cellular macroevolution dominance. In this chapter, recent studies that illustrate the ultimate importance of karyotype in cancer genomics and evolution are briefly reviewed. In particular, the long-ignored non-clonal chromosome aberrations or NCCAs are linked to genome or chromosome instability, genome chaos is linked to genome reorganization under cellular crisis, and the two-phased cancer evolution reconciles the relationship between genome alteration-mediated punctuated macroevolution and gene mutation-mediated stepwise microevolution. By further synthesizing, the concept of karyotype coding is discussed in the context of information management. Altogether, we call for a new era of cancer cytogenetics and cytogenomics, where an array of technical frontiers can be explored further, which is crucial for both basic research and clinical implications in the cancer field.

Tracking Karyotype Changes in Treatment-Induced Drug-Resistant Evolution.

Karyotype coding, which encompasses the complete chromosome sets and their topological genomic relationships within a given species, encodes system-level information that organizes and preserves genes' function, and determines the macroevolution of cancer. This new recognition emphasizes the crucial role of karyotype characterization in cancer research. To advance this cancer cytogenetic/cytogenomic concept and its platforms, this study outlines protocols for monitoring the karyotype landscape during treatment-induced rapid drug resistance in cancer. It emphasizes four key perspectives: combinational analyses of phenotype and karyotype, a focus on the entire evolutionary process through longitudinal analysis, a comparison of whole landscape dynamics by including various types of NCCAs (including genome chaos), and the use of the same process to prioritize different genomic scales. This protocol holds promise for studying numerous evolutionary aspects of cancers, and it further enhances the power of karyotype analysis in cancer research.