1.Massive retinal gliosis – A rare benign condition masquerading as a malignant intraocular tumor: A case report
Xavier Daryl L. Martinez ; Charisse Ann S. Tanlapco ; Armida L. Suller-Pansacola
Acta Medica Philippina 2025;59(12):77-82
Massive retinal gliosis (MRG) is a rare, benign intraocular condition resulting from reactive glial cells undergoing exaggerated repair phenomenon. A 52-year-old male presented with 6-year history of enlarging mass in the right eye, associated with progressive vision loss and worsening proptosis. He reported history of trauma to that eye secondary to a vehicular crash one year prior. Magnetic resonance imaging (MRI) of the orbits revealed an intraocular lesion with calcifications raising the possibility of a malignant tumor. Enucleation of the right globe was performed and histopathologic examination revealed the entire vitreous cavity and retina replaced by glial cells arranged in interlacing bundles and whorls with foci of calcifications, highly suspicious of MRG. This was further confirmed by a positive, diffuse, and robust cytoplasmic expression of glial fibrillary protein (GFAP). The disease is known to have favorable outcomes as no complications, such as reemergence of the mass, active bleeding, and secondary infection, were observed from the patient during subsequent visits. Distinction of MRG from other intraocular neoplasms is clinically challenging, hence biopsy is necessary. MRG should be considered as a differential diagnosis when encountering intraocular tumors, especially if there is a history of eye trauma. This is the first reported case of MRG in the Philippines.
Human ; Female ; Middle Aged: 45-64 Yrs Old ; Retinal Tumor ; Retinal Neoplasms
2.ZHANG Ren's academic characteristics of acupuncture for refractory eye diseases in modern times with "homotherapy for heteropathy".
Yue MA ; Yanmei HU ; Xiaolan SHI ; Xiaoying HU ; Wenqiang HONG ; Ren ZHANG
Chinese Acupuncture & Moxibustion 2025;45(9):1311-1317
This paper introduces the academic characteristics of Professor ZHANG Ren in treatment with acupuncture for refractory eye diseases in modern times, guided by "homotherapy for heteropathy" (same therapy for different diseases sharing the same pathogenesis). The refractory eye diseases in modern times include a variety of conditions such as glaucoma, macular degeneration, diabetic retinopathy, high myopia and its complications, dry eye, cortical visual impairment and genetic eye diseases. The same therapy is used because these diseases share the similar location and pathogenesis. Professor ZHANG optimizes the methods of acupoint selection and provides the comprehensive prescriptions, "basic prescription, prescription based on disease differentiation, and supplementary prescription". A variety of acupuncture manipulation techniques are operated in clinical practice, such as compound needling methods, penetration needling, manipulations for promoting qi movement and conducting qi flow. "Early, regular and persistent" treatment is the common requirement with "the same acupoints, the same prescription and the same acupuncture method" as well as at "the same time". It is also proposed that the treatment should be provided flexibly according to the different symptoms, "identifying the differences within similarities".
Acupuncture Therapy/methods*
;
Humans
;
Eye Diseases/history*
;
Acupuncture Points
;
History, 20th Century
;
China
;
History, 21st Century
3.Research progress on macrophage metabolic reprogramming in ocular diseases.
Yun HE ; Junwen OUYANG ; Qian TAN ; Kai HU
Chinese Journal of Cellular and Molecular Immunology 2025;41(8):744-749
Macrophages are the crucial immune cells integral to host defense and the regulation of homeostasis, exhibiting remarkable plasticity across various tissues. Upon exposure to different stimuli, they can polarize into functional subsets. The reorganization process of cellular metabolism, known as metabolic reprogramming, involves the comprehensive adjustment of intracellular metabolites, enzymes, and metabolic pathways. Recent studies have revealed the critical role of metabolic reprogramming in shaping the phenotypes and functions of macrophages. Metabolism drives and regulates macrophages by generating bioenergy and biosynthetic precursors and by altering metabolites that affect gene expression and signal transduction. This review focuses on the immunomodulatory roles of key enzymes and specific products in major metabolic pathways, such as glucose metabolism, lipid metabolism and amino acid metabolism, in macrophages. Additionally, it will highlight recent advancements in targeting metabolic regulation of macrophages in the context of ocular diseases.
Humans
;
Macrophages/immunology*
;
Animals
;
Eye Diseases/immunology*
;
Lipid Metabolism
;
Glucose/metabolism*
;
Metabolic Networks and Pathways
;
Signal Transduction
;
Metabolic Reprogramming
4.Clinical characteristics of allergic rhinitis induced by pollen in northern China.
Sinan HE ; Lijia CHEN ; Wenhua MING ; Xiaoyan WANG ; Hongtian WANG ; Xueyan WANG
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2025;39(5):470-481
Objective:The prevalence of seasonal allergic rhinitis (AR) and its combined diseases have been increasing recently. The purpose was to investigate the clinical characteristics and treatment of seasonal AR in northern China. Methods:A cross-sectional study was conducted in AR patients. The Visual analogue scale (VAS), combined diseases, clinical features, allergic pollen and treatments were analyzed. Results:Of the 789 AR subjects included, 54.1% had a family history of atopic disease. The mian course wa s(7.4±5.9) years. 95.4% of the subjects had moderate to severe AR. The prevalence rates of allergic conjunctivitis (AC), allergic asthma (AA), and pollen food allergy syndrome (PFAS) were 71.1%, 19.0%, and 39.5% respectively. Among the patients, 13.8% presented with only AR, while 39.3% had an AR combined with other disease, and 1.9% exhibited comorbidity involving five different diseases. VAS was positively correlated with the number of comorbidities(r=0.186, P<0.001). The mugwort exhibited the highest rate of pollen sensitization (48.9%), closely followed by cypress (48.3%). The prevalence of mono-sensitization to pollen was 20.2%, while the positive rates for double-sensitized pollens and more than three sensitized pollens were 17.4% and 62.4%, respectively. Among the study participants, 19.9% did not receive any form of treatment, while 66.2% were administered oral medication and 27.5% underwent nasal steroid spray therapy. The proportion of individuals receiving anti-IgE monoclonal antibodies was 4.3%, and allergen immunotherapy (AIT) treatment was undergone by 11.8%. Meanwhile, 41.2% of patients undergoing anti-IgE monoclonal antibody treatment also received AIT. The distribution of therapy types among patients was as follows: 44.7% received a single type, 22.2% received two types, and 9.8% received three types of therapy. Additionally, there was a subset of patients(1%) who were undergoing five distinct forms of treatment. The VAS score exhibited a significant negative correlation with no treatment(r=-0.199, P<0.001), while it showed a positive association with the number of treatment modalities(r=0.245, P<0.001). Conclusion:Mugwort and cypress are the predominant allergenic pollens responsible for seasonal AR in northern China. The majority of cases present with moderate to severe AR, often accompanied by various comorbidities, necessitating consideration of diverse treatment modalities. However, the current rate of adoption for AIT remains relatively insufficient.
Humans
;
China/epidemiology*
;
Cross-Sectional Studies
;
Rhinitis, Allergic, Seasonal/therapy*
;
Pollen/immunology*
;
Adult
;
Male
;
Female
;
Young Adult
;
Adolescent
;
Middle Aged
;
Child
;
Prevalence
;
Allergens/immunology*
;
Asthma/epidemiology*
;
Conjunctivitis, Allergic
5.Genetic and clinical phenotypic analysis of Usher syndrome-associated gene variants.
Heng ZHAO ; Xiuli MA ; Yanli QU ; Guo LI ; Ken LIN ; Rui HUANG ; Lijuan ZHOU ; Jing MA
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2025;39(8):736-742
Objective:To investigate the molecular characteristics and clinical heterogeneity of Usher syndrome(USH) -related gene variants in patients with hereditary hearing loss in southwest China, providing a basis for early diagnosis and clinical management. Methods:Thirteen patients from twelve families with hearing loss who attended the Affiliated Children's Hospital of Kunming Medical University between January 2017 and March 2021 were enrolled. All patients were identified as carrying USH-related gene variants through next-generation sequencing. Sanger sequencing was performed for all patients and their parents to validate the pathogenic variants. Comprehensive clinical evaluations, including medical history collection, otologic and ophthalmologic examinations, and vestibular function assessments, were conducted. Results:Among the 13 patients, 4 were diagnosed with USH type 1 and 2 with USH type 2. A total of 19 pathogenic or likely pathogenic variants were detected in USH-related genes, including MYO7A,CDH23,USH1C, and USH2A. The causative gene was MYO7A in 3 probands, CDH23 in 5, USH1C in 3, and USH2Ain 2. All patients exhibited an autosomal recessive inheritance pattern. Vestibular dysfunction was observed in 4 patients, and retinitis pigmentosa(RP) in 3 patients. Based on the genotype-phenotype correlation, 6 patients were initially diagnosed with USH, while 7 were classified as having non-syndromic hearing loss(NSHL). Conclusion:This study revealed the clinical heterogeneity of USH-related gene variants in patients with hereditary deafness in southwest China. Although the clinical manifestations of USH are complex and there are overlapping characteristics between different subtypes, genetic testing provides an important basis for early diagnosis and precise clinical management. Especially for those with typical hearing loss, early genetic diagnosis can provide a window of time for early detection and intervention of retinitis pigmentosa.
Humans
;
Usher Syndromes/genetics*
;
Myosin VIIa
;
Phenotype
;
Male
;
Female
;
Myosins/genetics*
;
Mutation
;
Cadherins/genetics*
;
Child
;
Extracellular Matrix Proteins/genetics*
;
Adolescent
;
Pedigree
;
High-Throughput Nucleotide Sequencing
;
Cadherin Related Proteins
;
Cytoskeletal Proteins
;
Cell Cycle Proteins
6.Massive retinal gliosis – A rare benign condition masquerading as a malignant intraocular tumor: A case report
Xavier Daryl L. Martinez ; Charisse Ann S. Tanlapco ; Armida L. Suller-Pansacola
Acta Medica Philippina 2024;58(Early Access 2024):1-6
Massive retinal gliosis (MRG) is a rare, benign intraocular condition resulting from reactive glial cells undergoing exaggerated repair phenomenon. A 52-year-old male presented with 6-year history of enlarging mass in the right eye, associated with progressive vision loss and worsening proptosis. He reported history of trauma to that eye secondary to a vehicular crash one year prior. Magnetic resonance imaging (MRI) of the orbits revealed an intraocular lesion with calcifications raising the possibility of a malignant tumor. Enucleation of the right globe was performed and histopathologic examination revealed the entire vitreous cavity and retina replaced by glial cells arranged in interlacing bundles and whorls with foci of calcifications, highly suspicious of MRG. This was further confirmed by a positive, diffuse, and robust cytoplasmic expression of glial fibrillary protein (GFAP). The disease is known to have favorable outcomes as no complications, such as reemergence of the mass, active bleeding, and secondary infection, were observed from the patient during subsequent visits. Distinction of MRG from other intraocular neoplasms is clinically challenging, hence biopsy is necessary. MRG should be considered as a differential diagnosis when encountering intraocular tumors, especially if there is a history of eye trauma. This is the first reported case of MRG in the Philippines.
Human
;
Female
;
Middle Aged: 45-64 yrs old
;
retinal tumor
;
retinal neoplasms
7.Genetic characteristic analysis of slight-to-moderate sensorineural hearing loss in children.
Rui ZHOU ; Jing GUAN ; Qiuju WANG
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2024;38(1):18-22
Objective:To analyze genetic factors and phenotype characteristics in pediatric population with slight-to-moderate sensorineural hearing loss. Methods:Children with slight-to-moderate sensorineural hearing loss of and their parents, enrolled from the Chinese Deafness Genome Project, were studied. Hearing levels were assessed using pure tone audiometry, behavioral audiometry, auditory steady state response(ASSR), auditory brainstem response(ABR) thresholds, and deformed partial otoacoustic emission(DPOAE). Classification of hearing loss is according to the 2022 American College of Medical Genetics and Genomics(ACMG) Clinical Practice Guidelines for Hearing Loss. Whole exome sequencing(WES) and deafness gene Panel testing were performed on peripheral venous blood from probands and validations were performed on their parents by Sanger sequencing. Results:All 134 patients had childhood onset, exhibiting bilateral symmetrical slight-to-moderate sensorineural hearing loss, as indicated by audiological examinations. Of the 134 patients, 29(21.6%) had a family history of hearing loss, and the rest were sporadic patients. Genetic causative genes were identified in 66(49.3%) patients. A total of 11 causative genes were detected, of which GJB2 was causative in 34 cases(51.5%), STRC in 10 cases(15.1%), MPZL2 gene in six cases(9.1%), and USH2A in five cases(7.6%).The most common gene detected in slight-to-moderate hearing loss was GJB2, with c. 109G>A homozygous mutation found in 16 cases(47.1%) and c. 109G>A compound heterozygous mutation in 9 cases(26.5%). Conclusion:This study provides a crucial genetic theory reference for early screening and detection of mild to moderate hearing loss in children, highlighting the predominance of recessive inheritance and the significance of gene like GJB2, STRC, MPZL2, USH2A.
Humans
;
Child
;
Connexins/genetics*
;
Connexin 26/genetics*
;
Hearing Loss, Sensorineural/diagnosis*
;
Mutation
;
Usher Syndromes
;
Hearing Loss, Bilateral
;
Audiometry, Pure-Tone
;
Intercellular Signaling Peptides and Proteins
8.Effect and differentiation of spontaneous nystagmus of acute unilateral vestibulopathy on saccade in the video head impulse test.
Qiaomei DENG ; Xueqing ZHANG ; Chao WEN ; Xiaobang HUANG ; Taisheng CHEN ; Wei WANG
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2024;38(12):1122-1133
Objective:Exploring the performance characteristics of spontaneous nystagmus(SN) in video-head impulse test(vHIT) and its possible effects on saccade. Methods:Vestibular function tests such as vHIT and SN were conducted in 48 patients with acute unilateral vestibulopathy(AUVP). The saccade characteristics of vHIT in patients without SN and those with SN were analyzed, as well as the expression characteristics of SN in vHIT. Results:Among the 48 AUVP patients, there were 34 cases with SN, including 31 cases with saccade on the healthy side, 11 cases with both the same and opposite directions of eye movement, 19 with the opposite only, 1 with same direction only, and 3 cases without saccade. There were 14 patients without SN, of whom 10 showed saccade on the healthy side, including 4 with both eye movements in the same and opposite direction, 2 in the opposite direction only, 4 in the same direction only, and 4 without saccade. There is a correlation between reverse saccade on the healthy side and the presence of SN in patients. SN in vHIT can appear opposite to the direction of eye movement on the healthy side, while on the affected side it can appear the same as the direction of eye movement and may cause more discrete overt saccade. 32 patients in the acute phase(≤2 w), 29 patients with SN, SN intensity of(6.7 ± 3.2) °/s, and 3 patients without SN. 16 cases in non acute phase(>2 w), 5 cases with SN, SN intensity of(3.7 ± 2.1) °/s, and 11 cases without SN. In the acute phase there were 30 cases of saccade on the healthy side, 10 cases with both the same and opposite direction of eye movement, 18 cases with only the opposite direction, 2 cases with only the same direction and 2 cases without saccade. There is a correlation between the duration of the disease and the occurrence of reverse saccade on the healthy side. The intensity cut off point of SN for reverse saccade is 2.1 °/s in the healthy lateral semicircular canal vHIT. Conclusion:Compensatory saccades and SN waves with similar waveforms are mostly present in vHIT in AUVP patients. SN wave is in the opposite direction of the normal side and eye movement wave, and the affected side and dominant saccade direction are in the same direction and mixed together, which can affect the dispersion and amplitude of overt saccade in vHIT. Accurate identification of SN in vHIT of AUVP patients is not only the key factor to identify compensatory saccade, but also can provide help for the diagnosis and compensatory assessment of AUVP.
Humans
;
Head Impulse Test/methods*
;
Nystagmus, Pathologic/physiopathology*
;
Saccades/physiology*
;
Male
;
Female
;
Vestibular Diseases/physiopathology*
;
Middle Aged
;
Adult
;
Eye Movements/physiology*
;
Aged
9.The analysis of features of first-onset neuromyelitis optica spectrum disease within 1 year after delivery.
Yun Qing WU ; Shi Lei CUI ; Li Ping ZHU ; Qian WU ; Yan Jun GUO ; Jia Wei WANG
Chinese Journal of Preventive Medicine 2023;57(11):1801-1807
To explore the clinical features and influencing factors of first-onset neuromyelitis optica spectrum disease (NMOSD) within 1 year after delivery. A single center, observational cohort study was used to retrospectively analyze 12 patients with first-onset NMOSD within 1 year after delivery hospitalized in the Department of Neurology of Beijing Tong Ren Hospital from June 2015 to June 2018(short as the postpartum onset group). 12 patients with first-onset NMOSD without 1 year after delivery hospitalized in our department during the same period were selected (short as the control group). The results showed the next recurrence interval in the postpartum onset group was longer than the control group [the postpartum onset group: (6.1±3.5) years, the control group: (1.6±1.5) years, t=3.622,P=0.005], the times of relapses were less than the control group [the postpartum onset group: (1.8±1.4) times, the control group:4.0 (3.0, 7.3) times, Z=-3.122,P=0.002], and expanded disability status scale (EDSS) of the last follow-up was lower than the control group [the postpartum onset group: 3.0(2.3, 3.9), the control group: 4.5(4.0, 6.0), Z=-3.358,P=0.001] with statistically significant differences. The recurrence rates of 1 year, 3 years and 5 years in the postpartum onset group (0%, 16.7%, 33.3%) were lower than control group (58.3%, 83.3%, 91.7%) with statistically significant differences (χ2=8.000,P=0.014;χ2=10.667,P=0.003; χ2=8.711,P=0.009). After the second delivery, the recurrence rate in postpartum onset group was 100% (n=3) and in control group was 50%(n=2), but the difference was not statistically significant (χ2=2.100,P=0.429). In the postpartum onset group, combination of autoimmune disease was consistent with positive in serum AQP-4 antibody moderately (Kappa=0.5, P=0.046). Positive in other autoimmune antibodies were consistent with positive in serum AQP-4 antibody moderately (Kappa=0.5, P=0.046). Combination of autoimmune disease were consistent with positive in serum other autoimmune antibodies well (Kappa=0.667, P=0.021). In conclusion, the first-onset NMOSD within 1 year after delivery have longer next recurrence interval, less times of relapses, lower relapse rate, better long-term prognosis of central nervous system, and they have trend to suffering from recurrent after the second delivery. For the females, combined with autoimmune disease or autoimmune antibody, who are ready for pregnancy, could detect serum AQP-4; if serum AQP-4 positive, they are recommended to prevent the occurrence of NMOSD after delivery.
Pregnancy
;
Female
;
Humans
;
Neuromyelitis Optica/diagnosis*
;
Retrospective Studies
;
Cohort Studies
;
Postpartum Period
;
Recurrence
10.Epidemiological and clinical characteristics of human ocular helaziasis in China from 2011 to 2022 based on bibliometrics.
Y ZHAO ; F PEI ; N YANG ; H SUN ; Z GAO ; Q TIAN ; X LU
Chinese Journal of Schistosomiasis Control 2023;35(5):513-516
OBJECTIVE:
To understand the clinical and epidemiological characteristics of human ocular thelaziasis patients in China.
METHODS:
Case reports regarding human ocular thelaziasis cases in China were retrieved in international and national electronic databases, including CNKI, VIP, CBM, Traditional Chinese Medical Literature Analysis and Retrieval System, Wanfang Database, PubMed and Web of Science from 2011 to 2022. Patients' gender, age, clinical symptoms, treatment, recurrence, site of infections, time of onset, affected eye, affected sites, number of infected Thelazia callipaeda, sex of T. callipaeda and source of infections were extracted for descriptive analyses.
RESULTS:
A total of 85 eligible publications were included, covering 101 cases of human ocular thelaziasis, including 57 males (56.44%) and 44 females (43.56%) and aged from 3 months to 85 years. The main clinical manifestations included foreign body sensation (56 case-times, 22.49%), eye itching (38 case-times, 15.26%), abnormal or increased secretions (36 case-times, 14.46%), tears (28 case-times, 11.24%) and eye redness (28 case-times, 11.24%), and conjunctival congestion (50 case-times, 41.67%) was the most common clinical sign. The most common main treatment (99/101, 98.02%) was removal of parasites from eyes using ophthalmic forceps, followed by administration with ofloxacin and pranoprofen. In publications presenting thelaziasis recurrence, there were 90 cases without recurrence (97.83%) and 2 cases with recurrence (2.17%). Of all cases, 51.96% were reported in four provinces of Hubei, Shandong, Sichuan, Hebei and Henan, and ocular thelaziasis predominantly occurred in summer (42.19%) and autumn (42.19%). In addition, 56.45% (35/62) had a contact with dogs.
CONCLUSIONS
The human thelaziasis cases mainly occur in the continental monsoon and subtropical monsoon climate areas such as the Yellow River and the Yangtze River basin, and people of all ages and genders have the disease, with complex clinical symptoms and signs. Personal hygiene is required during the contact with dogs, cats and other animals, and individual protection is required during outdoor activities to prevent thelaziasis.
Animals
;
Dogs
;
Female
;
Humans
;
Male
;
Bibliometrics
;
China/epidemiology*
;
Seasons
;
Spirurida Infections/epidemiology*
;
Thelazioidea
;
Eye Diseases/parasitology*


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