RESUMEN
Neurofibromatosis type 1 (NF1) is a genetic disorder caused by mutations in the NF1 gene. This disorder shows nearly complete penetrance and high phenotypic variability. We used the whole-exome sequencing technique to identify mutations in 32 NF1 cases from 22 Iranian families. A total of 31 variants, including 30 point mutations and one large deletion, were detected. In eight cases, variants were inherited, while they were sporadic in the remaining. Seven novel variants, including c.5576 T > G, c.6658_6659insC, c.2322dupT, c.92_93insAA, c.4360C > T, c.3814C > T, and c.4565_4566delinsC, were identified. The current study is the largest in terms of the sample size of Iranian NF1 cases with identified mutations. The results can broaden the spectrum of NF1 mutations and facilitate the process of genetic counseling in the affected families.
Asunto(s)
Secuenciación del Exoma , Genes de Neurofibromatosis 1 , Neurofibromatosis 1 , Neurofibromina 1 , Humanos , Irán , Neurofibromatosis 1/genética , Neurofibromina 1/genética , Femenino , Masculino , Niño , Linaje , Adulto , Mutación Puntual , Mutación , Adolescente , Preescolar , Adulto Joven , Análisis Mutacional de ADN , Eliminación de SecuenciaRESUMEN
Background: End-stage kidney disease (ESKD) is a global issue. Although the use of kidney replacement therapy measures has improved outcomes for patients with ESKD, the mortality rate remains significant. Identifying modifiable factors that affect patient outcomes can help improve their survival. The aim of this study was to investigate the factors affecting the clinical outcome of peritoneal dialysis patients. Methods: This prospective cohort study was conducted between 2018 and 2021.Participants: Patients aged between 18 and 75 years with a history of peritoneal dialysis (PD) for at least six months were included. Demographic data, kt/v ratio, medical history, serum levels of albumin, creatinine, triglycerides, total cholesterol, calcium, phosphorus, parathyroid hormone, hemoglobin, and ferritin were recorded before starting PD and during the follow-up period, along with clinical outcomes. To describe the data, the central index of mean, frequency, and relative frequency was used, and for analytical statistics, Chi-square test, analysis of variance, and Kruskal-Wallis were used. Results: A total of 64 patients with a mean age of 51.78 ± 15.31 years were included. Of these, 27 (42.18%) had a history of diabetes mellitus, and 38 (59.37%) had a history of hypertension (HTN). 48 (75%) patients survived until the end of the study, while 47 (73.4%) participants experienced peritonitis. Our findings indicate that variables such as sex, marital status, weight, history of HTN, and serum levels of hemoglobin and ferritin significantly affect outcomes. Conclusion: We found that factors including sex, marriage, normal weight, HTN, normal hemoglobin, and ferritin can lead to better survival in PD patients. Recurrent peritonitis was the most crucial cause of PD to HD shifts.
RESUMEN
BACKGROUND: Infertility is defined as the failure to achieve pregnancy after one year of unprotected intercourse within a marital relationship. Approximately 10%-15% of couples worldwide experience infertility issues, with nearly half of these cases attributed to male factors. Among men with unexplained infertility, genetic mutations have been identified as a potential cause. Studies have indicated that mutations affecting the function of the protein encoded by the ACTL9 gene may play a role in male infertility. METHODS: The purpose of this research was to identify mutations in the ACTL9 gene associated with male infertility in a sample of 40 infertile men with unknown causes. Genomic DNA extraction and PCR amplification were carried out on samples from each individual. The genetic material was then analyzed using Sanger sequencing, followed by bioinformatics and segregation analysis to determine the potential effects of the observed variations. RESULT: A novel genetic variant, c.376G>A (p.Glu126Lys), was identified in an infertile male individual, representing a previously unreported finding that was validated through segregation analyses. This specific variant induces a change from glutamate to lysine at the amino acid level by replacing the nucleotide G with A in the genomic DNA sequence, consequently impacting the secondary structure and function of the protein. CONCLUSIONS: The conclusive analysis of the procedure indicated that this alteration has the potential to interfere with the process of fertilization, ultimately resulting in the complete failure of fertilization (TFF) and causing male infertility.
Asunto(s)
Infertilidad Masculina , Humanos , Masculino , Infertilidad Masculina/genética , Adulto , MutaciónRESUMEN
OBJECTIVE: The relationship between oxidative stress (OS), insulin resistance (IR), and polycystic ovary syndrome (PCOS) is an important medical issue in human reproduction. Some of the oxidative phosphorylation (OXPHOS) genes have been previously studied in granulosa and muscle cells of PCOS patients. Cumulus cells (CCs) remain close to the oocyte even after ovulation. This research has been designed to compare the expression of OXPHOS genes in CCs of PCOS, with or without insulin resistance. MATERIALS AND METHODS: In this experimental study, patients were included in PCOS insulin-resistant, PCOS insulinsensitive (IS), and control (fertile women with male infertility history) groups. The expression of NCF2, TXNIP, UCP2, NDUFB6, ATP5H, COX7C, NDUFA3, SDHA, and SDHB was studied by real-time polymerase chain reaction (PCR), and normalization was performed considering HPRT1 and CYC1 as reference genes. One-way ANOVA and Tukey test were used for data analysis. RESULTS: The results showed that the expression of NCF2, TXNIP, UCP2, and ATP5H was significantly higher in the IR group than IS and control groups (P<0.01). NDUFB6 showed the highest expression in the IS group, which was significantly different from other groups (P<0.01). The other genes of interest, except COX7C, were observed with the most transcriptional levels in the IS group, although there was no significant difference for those genes. CONCLUSION: Altered expression of genes involved in mitochondrial function compared to the control group in CCs of both IR and IS categories of the PCOS patients suggests that alteration in OXPHOS genes can contribute to the pathophysiology of PCOS.
RESUMEN
Fostering equity in undergraduate science, technology, engineering, and mathematics (STEM) programs can be accomplished by incorporating learner-centered pedagogies, resulting in the closing of opportunity gaps (defined here as the difference in grades earned by minoritized and non-minoritized students). We assessed STEM courses that exhibit small and large opportunity gaps at a minority-serving, research-intensive university, and evaluated the degree to which their syllabi are learner-centered, according to a previously validated rubric. We specifically chose syllabi as they are often the first interaction students have with a course, establish expectations for course policies and practices, and serve as a proxy for the course environment. We found STEM courses with more learner-centered syllabi had smaller opportunity gaps. The syllabus rubric factor that most correlated with smaller gaps was Power and Control, which reflects Student's Role, Outside Resources, and Syllabus Focus. This work highlights the importance of course syllabi as a tool for instructors to create more inclusive classroom environments.
Asunto(s)
Curriculum , Ingeniería , Humanos , Ingeniería/educación , Tecnología/educación , Estudiantes , MatemáticaRESUMEN
The management of metastatic cancer is complicated by chemotherapy resistance. This manuscript provides a comprehensive academic review of strategies to overcome chemotherapy resistance in metastatic cancer. The manuscript presents background information on chemotherapy resistance in metastatic cancer cells, highlighting its clinical significance and the current challenges associated with using chemotherapy to treat metastatic cancer. The manuscript delves into the molecular mechanisms underlying chemotherapy resistance in subsequent sections. It discusses the genetic alterations, mutations, and epigenetic modifications that contribute to the development of resistance. Additionally, the role of altered drug metabolism and efflux mechanisms, as well as the activation of survival pathways and evasion of cell death, are explored in detail. The strategies to overcome chemotherapy resistance are thoroughly examined, covering various approaches that have shown promise. These include combination therapy approaches, targeted therapies, immunotherapeutic strategies, and the repurposing of existing drugs. Each strategy is discussed in terms of its rationale and potential effectiveness. Strategies for early detection and monitoring of chemotherapy drug resistance, rational drug design vis-a-vis personalized medicine approaches, the role of predictive biomarkers in guiding treatment decisions, and the importance of lifestyle modifications and supportive therapies in improving treatment outcomes are discussed. Lastly, the manuscript outlines the clinical implications of the discussed strategies. It provides insights into ongoing clinical trials and emerging therapies that address chemotherapy resistance in metastatic cancer cells. The manuscript also explores the challenges and opportunities in translating laboratory findings into clinical practice and identifies potential future directions and novel therapeutic avenues. This comprehensive review provides a detailed analysis of strategies to overcome chemotherapy resistance in metastatic cancer. It emphasizes the importance of understanding the molecular mechanisms underlying resistance and presents a range of approaches for addressing this critical issue in treating metastatic cancer.
RESUMEN
OBJECTIVE: To evaluate gender distribution in Canadian ophthalmology societies' leadership and to determine associations between gender, academic productivity, and institutional rank. METHODS: We identified members and assessed their gender composition using publicly available updated webpages. SCOPUS database was used to gather research metrics. RESULTS: In this study, data was collected from 12 Canadian ophthalmology societies, which included 277 executive committee members. Of these, 70.5% (196) were male and 29.1% (81) were female (p < .0001). Males were significantly more prevalent in presidential leadership roles (39 males vs. 23 females, p = .02), while females were more represented in other leadership categories (77 females vs. 61 males, p = .03). The Canadian Ophthalmological Society (COS) showed an upward trend in female representation from 19.2% in 2016 to 42.3% in 2021. Research productivity showed a positive correlation with society leadership rank, with a correlation coefficient of 0.732 for the m-index (p < .001) and 0.356 for the h-index (p < .05). Academic rank was also positively correlated with society leadership rank, with a correlation coefficient of 0.536 (p < .001). There was no significant difference in h-index (12.7 ± 1.0 for males vs. 13.8 ± 1.5 for females, p = .85) or number of publications (48.6 ± 5.1 for males vs. 60.0 ± 11.3 for females, p = .83) between male and female executive members, but females had a higher m-index (0.67 ± 0.05) compared to males (0.58 ± 0.03, p < .05). In academic rank, males were more likely to be associate professors (25% vs. 5% for females, p = .0001) or instructors (14.8% vs. 6.3% for females, p = .05), while a higher proportion of females held assistant professor positions (47.5% for females vs. 30.1% for males, p = .006). CONCLUSION: In this study, we found that males were more prevalent in executive positions, particularly in presidential roles among Canadian ophthalmology societies. The gender distribution in leadership reflected the gender composition of practicing ophthalmologists in Canada. There was a positive correlation between research productivity and society rank, as well as academic position and society rank. Male and female executive members had similar h-index and number of publications, but females had a higher m-index. These findings highlight the need for continued efforts to address gender disparities in ophthalmology leadership.
Asunto(s)
Oftalmología , Humanos , Masculino , Femenino , Estados Unidos , Canadá/epidemiología , Factores Sexuales , Docentes Médicos , LiderazgoRESUMEN
BACKGROUND: Hereditary ichthyosis is a clinically and genetically heterogeneous disorder associated with more than 50 genes with TGM1, ALOX12B, and ALOXE3 being the most prevalent. Establishing an accurate diagnosis is important for effective genetic counseling and optimal patient management. OBJECTIVE: We studied the diagnostic value of whole exome sequencing (WES) in a small case series with hereditary ichthyosis. METHODS: During a 1-year period, index cases of 5 unrelated families clinically diagnosed with hereditary ichthyosis went through WES, followed by extensive segregation analysis. Prenatal diagnosis (PND) was conducted where indicated. RESULTS: We identified 4 homozygous variants-2 in TGM1 (c.655A > G and c.797A > G) and 2 in ALOX12B (c.527 + 2 T > G and c.1654G > T)-alongside a heterozygous variant in TGM1 (c.428G > A) in 5 families. The variants were all pathogenic/likely pathogenic according to the ACMG classification and segregation analysis, except for c.797A > G in TGM1 which remained a variant of unknown clinical significance. Four variants were novel. All families were referred either during pregnancy or before reproductive planning; 4 benefited from WES as it identified the mutation in the probands and enabled carrier detection in at-risk relatives; PND was conducted in 2 families. CONCLUSION: Our findings further support WES is a powerful tool for the comprehensive, accurate, and rapid molecular diagnosis of hereditary ichthyosis and can offer opportunities for reproductive planning, carrier screening and prenatal diagnosis to at-risk families.
Asunto(s)
Ictiosis Lamelar , Ictiosis , Humanos , Araquidonato 12-Lipooxigenasa/genética , Secuenciación del Exoma , Asesoramiento Genético , Ictiosis/diagnóstico , Ictiosis Lamelar/diagnóstico , Ictiosis Lamelar/genética , MutaciónRESUMEN
OBJECTIVES: Hearing loss is one of the most common heterogeneous complicated disorders worldwide. We previously analyzed the results of published data on non-syndromic hearing loss in the Iranian population systematically. A broad range of genes is a challenge for molecular screening and clinical diagnosis in our populations on the ground of distinct genetics. The aim of this study was to analyze the role and frequency of the variants accountable for non-syndromic hearing loss (NSHL) in the Iranian population. These were identified with different methods including whole exome sequencing (WES), next-generation sequencing (NGS), targeted genomic enrichment and massively parallel sequencing (TGE + MPS), autozygosity mapping, STR markers, linkage analysis, and direct sequencing. This is the comprehensively study focusing on classifying 13 common NSHL genes according to their frequencies. Previous studies have not studied different regions and the Iranian population, and this is the definitive study on the topic. METHODS: We searched Scopus, PubMed, Science Direct databases, and Google Scholar. After a systematic review of the evidence 95 studies were considered then 31 studies were eligible for meta-analysis. In total, 6995 families, 358 variants, and 117 novel variants were included. Statistical analyses were conducted using Stata SE version 11 software. The inverse variance method enjoyed combining data. Heterogeneity of the preliminary results was assessed using Q (Cochrane test), and I square index. Random effects or fixed models were applied to combine the results, relying on the degree of heterogeneity. Point and pooled prevalence of variants acting on different regions were illustrated by forest plots. RESULTS: The total prevalence of at least one variant of GJB2 and SLC26A genes was estimated at 26% and 5%, respectively. Variant c.35delG accounted for 18% of the GJB2 variants while 1% of these variants were novel ones. The next most common variants in the GJB2 gene were c.109G>A at 3.5% and c.-23+1G>A at 2.3%. Moreover, the prevalence of GJB2 gene variants varied on average 0.002% from one region to another in Iran (p=0.849). Our meta-analysis also showed that the frequency of at least one variant of MYO15A varied between 1.2% and 12.5%. Corresponding prevalences for the other variants were as follows: ILDR1 (3.5%-3.7%), CDH23 (2%-10%), PJVK (1.4%-33%), TECTA (1.3%-6.7%), MYO6 (2%-4.8%), TMC1 (1.8%-2%), MYO7A (0.7%-5%), MARVELD2 (0.7-5%), OTOF (0.7%-4%), LRTOMT (0.7%-2.5%). Finally, we did not find any relationship between geographic area and the presence of these variants. CONCLUSION: GJB2 gene variants were the most common cause of NSHL in Iran. Understanding the prevalence of NSHL gene frequency in Iran may be the foundation for future studies in an Iranian population which may lead to future NSHL therapy.
Asunto(s)
Sordera , Pérdida Auditiva , Humanos , Irán/epidemiología , Mutación , Sordera/epidemiología , Sordera/genética , Pérdida Auditiva/diagnóstico , Pérdida Auditiva/epidemiología , Pérdida Auditiva/genética , Conexina 26/genética , Conexinas/genética , Proteína 2 con Dominio MARVEL/genéticaRESUMEN
INTRODUCTION: Breast cancer is one of the important factors of cancer-related deaths. Considering the drug resistance, special attention has been paid to natural compounds. This study aimed at evaluating the anti-metastatic activity of fennel in a breast cancer mouse model. METHODS: A total of 35 adult female BALB/C mice were used in this study. Breast cancer was induced by subcutaneous injection of 4T1 cells in the right lower flank. The mice received fennel extracts daily via intraperitoneal injection for two weeks. Meanwhile, tumor volume was measured every day using calipers. After two weeks, each animal was anesthetized. The protein expression of HSP 70 & 90 was measured in liver tissue and ovary. The expression of her2 was measured in tumor tissue. The activity of Glutathione peroxidase and reductase as anti-oxidant agents were measured in serum. RESULTS: Tumor size significantly decreased after nine days' treatment of the fennel. The expression of HER2 increased in the tumor tissue and decrease with different dose of fennel. Fennel treatment caused a decrease in the protein expression of HSP 70 & 90 in the liver tissues. CONCLUSION: Based on our findings, fennel has anti-tumor and anti-metastatic activities against aggressive cancers.
Asunto(s)
Foeniculum , Neoplasias , Femenino , Animales , Ratones , Extractos Vegetales/farmacología , Extractos Vegetales/uso terapéutico , Ratones Endogámicos BALB C , Proteínas HSP90 de Choque Térmico , Chaperonas Moleculares , Neoplasias/tratamiento farmacológicoRESUMEN
Despite the growing attention to motivation, less is known about international students' motivational beliefs and attitudes about academic writing. In this study, we aimed to explore the motivational factors influencing international students' performance in academic English classes at a large public research university in the western United States. Specifically, we examined students' self-efficacy, goal orientation, beliefs, and affect for writing, along with their malleability, and their contributions to academic achievement in academic English writing classes. The sample comprised 97 students, predominantly from China, enrolled in online academic English courses. Exploratory factor analysis tended to extract more complex models of the motivational constructs than principal component analysis. Students' self-efficacy and enjoyment of writing significantly increased from the beginning to the end of the 10-week term, suggesting motivational factors' malleability. Hierarchical linear modeling revealed that students' self-efficacy at the beginning of the term positively predicted their final grades. However, logistic mixed modeling revealed that students who held stronger beliefs about writing as a means of exploring and expressing ideas had lower odds of passing. Our findings contribute to the understanding of international students' motivation in academic English settings in higher education and offers potential pedagogical interventions to enhance their academic success.
RESUMEN
Purpose: To provide a perspective and surgical video demonstration of peripheral corneal ulceration and perforation managed with multilayered amniotic membrane transplantation. Case Reports: Case 1 describes a 48-year-old female with progressive redness and pain, and an inferonasal corneal thinning and perforation in the left eye from peripheral ulcerative keratitis. She underwent conjunctival recession with amniotic membrane inlay and onlay (Sandwich technique) transplantation. The amniotic membrane integrated well, and her Snellen visual acuity improved from 6/21 preoperatively to 6/9 at 3 months post op. Case 2 describes a 78-year-old male with redness and pain with temporal corneal thinning bilaterally and perforation in the right eye from peripheral ulcerative keratitis. Both eyes underwent similar surgical intervention with smooth integration of the amniotic membrane in the cornea and improvement in the visual acuity. Both patients were also started on systemic immunosuppression in collaboration with the rheumatology team. Conclusion: We report successful use of multilayered amniotic membrane transplantation for the treatment of corneal ulceration and perforation. The authors believe the simplicity of the surgical technique, easier access to amniotic membrane tissue, and lower induced post-operative astigmatism all provide advantages over alternative treatment modalities.
RESUMEN
BACKGROUND: Celiac disease (CeD) and inflammatory bowel disease (IBD) are accompanied by impaired immune responses. To study the immune regulation of these diseases, we evaluated the expression levels of pro-inflammatory (IL-8 and IL-17 A) and anti-inflammatory (IL-10) cytokines in intestinal biopsy specimens of CeD and IBD patients in comparison to healthy subjects. METHODS AND RESULTS: Intestinal biopsies were collected from 33 patients with IBD, 47 patients with CeD, and 20 healthy individuals. Total RNA was extracted and mRNA expression levels of IL-8, IL-17 A and IL-10 were assessed by qPCR. P-value < 0.05 was considered statistically significant. The expression levels of IL-8 and IL-17 A were higher in biopsies of IBD (UC and CD) and CeD patients compared to the control group (P < 0.05). IBD patients (UC and CD) had higher IL-8 intestinal level than CeD patients (P < 0.0001 and P = 0.0007, respectively). The expression of IL-10 was significantly down-regulated in intestinal biopsies of CeD and IBD patients compared with controls (P < 0.001). In addition, the expression level of this cytokine was significantly lower in IBD patients (P < 0.001 for UC patients and P < 0.0001 for CD patients) than CeD group. CONCLUSIONS: The three selected pro- and anti-inflammatory cytokines showed a similar expression pattern in both IBD and CeD patients. As IBD and CeD are immune-mediated disorders and are accompanied by inflammatory events, the understanding of the similarities and differences among them can help researchers to find out useful candidate therapeutic protocols. We suggest that larger cohort studies be organized to achieve more insights into this regulation.
Asunto(s)
Colitis Ulcerosa , Enfermedades Inflamatorias del Intestino , Colitis Ulcerosa/genética , Citocinas/metabolismo , Expresión Génica , Humanos , Enfermedades Inflamatorias del Intestino/genética , Interleucina-10/genética , Interleucina-17/genética , Interleucina-17/metabolismo , Interleucina-8/genética , Mucosa Intestinal/metabolismoRESUMEN
Background: The aim of this study was to analyze the long-term topographic and refractive outcomes of corneal cross-linking (CXL) in keratoconus. Methods: We used a retrospective observational study of patients with keratoconus who underwent CXL with a minimum follow-up of 5 years. Patients' refractive and topography data (corrected distance visual acuity, sphere, cylinder, average and maximum keratometry, and corneal aberrations) were collected. Results: A total of 112 patients/150 eyes (mean age: 33.2 ± 10.7 years; range: 13−61) were included. The mean follow-up was 5.87 ± 1.35 years (range: 5−10). At the last follow-up visit, an improvement in CDVA, spherical and cylindrical refraction, average and steepest keratometry, and corneal aberrations were observed (p < 0.05), with the exception of trefoil. At the last visit, 49 (34.8%) and 31 (22.0%) eyes had an improvement beyond 1D in their spherical and cylindrical power, respectively, and 43 (28.7%) eyes had a flattening of their steepest keratometry. Progressive improvement over time was observed for spherical refraction; max and mean-K; as well as corneal RMS, total, high, coma, and spherical aberrations (p < 0.05). More severe disease at the baseline correlated with an improvement in corneal aberrations over time. Conclusions: In addition to a progressive improvement in refractive and keratometric indices, corneal aberrations also demonstrate a steady decline with long-term follow-up after CXL, which was more pronounced in more severe patients.
RESUMEN
The present study investigated the effects of DNA fragmentation of spermatozoa on the growth factors expression by a human oviduct epithelial cell line (OE-E6/E7). Two separate groups were examined in this study. The cell line was cultured in the presence of spermatozoa with normal DNA fragmentation index (DFI) or abnormal DFI. Total RNA from the cell line in each group was isolated, and relative expression of objective genes was analysed using PCR array. Also, the concentration of VEGF, BMP-2, BMP-7 and MSTN in the supernatant of cell culture was analysed by the ELISA method. The PCR array analysis revealed that most of the growth factors had been upregulated in the abnormal group. However, the differences between groups were statistically significant (p < 0.05) for five genes, including VEGF-A, BMP-2, BMP-6, BMP-7 and OSM. Furthermore, MSTN was the only gene that down-regulated significantly under the influence of the spermatozoa with abnormal DFI. Moreover, the results of ELISA analysis were in agreement with the data of the PCR array. It has been concluded that DNA fragmentation in human spermatozoa can probably change regular events throughout the oviducts. Consequently, the genes of interest may change sperm function and probably its fate in the female reproductive tract.
Asunto(s)
Fragmentación del ADN , Trompas Uterinas , Espermatozoides , Proteína Morfogenética Ósea 7/genética , Proteína Morfogenética Ósea 7/metabolismo , Trompas Uterinas/fisiología , Femenino , Expresión Génica , Humanos , Péptidos y Proteínas de Señalización Intercelular/genética , Péptidos y Proteínas de Señalización Intercelular/metabolismo , Masculino , Espermatozoides/fisiologíaRESUMEN
PURPOSE: To add to the existing yet limited body of knowledge around crystal-storing histiocytosis (CSH) with two case reports of localized ocular CSH and associated mucosa-associated lymphoid tissue (MALT) lymphoma involving the lacrimal and orbital soft tissues without underlying systemic lymphoproliferative disorders and to provide a literature review of all cases of CSH with associated ophthalmic findings reported to date. OBSERVATIONS: A 62-year-old male presented with a one-year history of right greater than left upper eyelid swelling and epiphora. Ophthalmic exam and computed tomography (CT) head scan revealed bilateral soft tissue masses superior to the globe encasing the supraorbital artery with poor margins from the superior rectus muscle. A biopsy of the lesion showed low grade B-cell lymphoma and associated CSH with lymphoma making up the bulk of the tumor and with CSH comprising a minor component of the overall tumor volume. Further investigations did not show any evidence of systemic lymphoproliferative disorders. He received local irradiation of orbits, which resulted in complete resolution of disease.An 85-year-old female with no significant past ocular history referred to ophthalmology services for an incidental finding of an enlarged left lacrimal gland on a CT head scan. Ophthalmic exam and subsequent magnetic resonance imaging (MRI) demonstrated an enlarged left lacrimal gland. A biopsy of the lesion showed MALT lymphoma associated with CSH. In this case, CSH comprised the bulk of the clinical mass rather than lymphoma. Following negative systemic investigations, she received a short course of localized radiotherapy with a 50% regression of disease seen on follow-up CT scan. CONCLUSION AND IMPORTANCE: These two cases demonstrate a spectrum of morphology associated with CSH. In addition, they show that although localized ocular CSH is rare, CSH should be considered in the differential of an orbital mass and should lead to consideration of further investigation for systemic lymphoproliferative disorders.