1.Undiagnosed 33-Year-Old Filipino male HIV case presenting initially as stroke in the young: A case report.
Samantha Karla Dv INONCILLO ; Joseree-ann S. CATINDIG ; Maria Rhona M. BERGANTIN
Journal of Medicine University of Santo Tomas 2026;10(1):1913-1917
Cerebrovascular disease is uncommon in patients with HIV, occurring in up to 1.9% of patients, 0.2% were presenting with transient ischemic attacks. The central nervous system is the first part of the body to be affected by the human immunodeficiency virus. This case report is a unique presentation of a 33-year-old male who presented with focal neurologic deficits that lasted for one hour with a background of promiscuous history. The patient was positive for HIV screening test and CD4 count and was started on a combination of antiretroviral therapy. This is the first documented case report in the Philippines. This case report demonstrates the need for a high index of suspicion for early detection of the cause in HIV-positive patients with recurrent transient ischemic attacks, given the high morbidity and mortality that is associated with this condition if delayed or undiagnosed.
Human ; Male ; Adult: 25-44 Yrs Old ; Neurologic Manifestations ; Cerebrovascular Disorders ; Nervous System ; Central Nervous System ; Cd4 Lymphocyte Count
2.Clinical features and analysis of a case with Brain small vessel disease 1 with ocular anomalies due to variant of COL4A1 gene.
Chunxiao HAN ; Lulu YAN ; Yuxin ZHANG ; Haibo LI
Chinese Journal of Medical Genetics 2025;42(4):495-499
OBJECTIVE:
To explore the genetic etiology of a child with Brain small vessel disease 1 with ocular anomalies.
METHODS:
A child who was admitted to Ningbo Women and Children's Hospital on May 28, 2022 was selected for the study. Clinical data were collected, and peripheral blood samples from the child and her parents were obtained for genomic DNA extraction. Whole exome sequencing (WES) was performed to screen for pathogenic variants. Candidate variants were validated via Sanger sequencing and subjected to bioinformatic analysis. This study was approved by the Medical Ethics Committee of Ningbo Women and Children's Hospital (Ethics No. EC2020-014).
RESULTS:
The child was a 7-year-old female with a diagnosis of epilepsy. WES revealed that she has carried a heterozygous missense variant in the COL4A1 gene: c.1792G>A (p.Gly598Ser). Sanger sequencing confirmed that her parents both had the wild-type genotype for this variant. Based on American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines for the Interpretation of Sequence Variants, the variant were predicted to be a likely pathogenic (PS2+PM1+PM2_Supporting+PP3). Bioinformatics predicted that amino acid 598 was highly conserved in different species, formed hydrogen bond with Asp599 after becoming Ser598.
CONCLUSION
The heterozygous missense variant of the COL4A1 gene c.1792T>C (p.G598S) could be the pathogenic cause of this child with Brain small vessel disease 1 with ocular anomalies.
Humans
;
Female
;
Child
;
Collagen Type IV/genetics*
;
Eye Abnormalities/genetics*
;
Exome Sequencing
;
Mutation, Missense
;
Cerebral Small Vessel Diseases/genetics*
3.Endoscopic-assisted microvascular decompression for hemifacial spasms associated with vertebrobasilar dolichoectasia: A meta-analysis.
Philippine Journal of Surgical Specialties 2025;80(2):64-64
HFS primarily attributed to neurovascular compression at the root exit zone (REZ) of the CNVII, presents significant challenges in diagnosis and management. While Microscopic MVD remains the gold standard treatment, its efficacy in cases involving vertebrobasilar dolichoectasia (VBD) is less explored. This systematic review aimed to evaluate the safety and efficacy of endoscopic-assisted MVD (E-MVD) specifically in HFS secondary to VBD.
Comprehensive search using MeSH key words “Endoscopic”, “Microvascular Decompression”, “Vertebral Artery”, “Hemifacial spasm” across multiple databases was done. Following PRISMA guidelines, we identified six eligible studies. Descriptive statistics were used, qualitative and quantitative data were numerically expressed. Crude odds ratios of certain characteristics that may be attributable to comorbidities/post-operative complications were also determined. These were performed with a 95% confidence interval, p-value of <0.05 will be considered statistically significant.
Mean age was 53.63 years with female predominance. E-MVD demonstrated an 84.06% complete resolution rate, with partial resolution in 8.70% and no relief in 7.25% of cases. Transient facial palsy was the primary postoperative complication. Following factors pose increased risk for comorbidities/post-operative complications: age ≥ 60 years old (4.2500), male (1.1905), AICA involvement (3.7037) and left sided involvement (1.5750).
Comparison with traditional microscopic MVD reveals comparable success rates, with E-MVD offering enhanced visualization and potential reductions in complications. Challenges related to vertebral artery involvement and complex compression patterns are addressed more effectively with endoscopic techniques. While the learning curve for surgeons transitioning to endoscopic approaches exists, the benefits of minimally invasive procedures warrant further exploration and adoption.
Human ; Hemifacial Spasm ; Microvascular Decompression Surgery ; Vertebrobasilar Insufficiency ; Vertebral Artery ; Confidence Intervals ; Odds Ratio
4.Risks, mechanisms, and prevention strategies for cerebrovascular diseases in lunar astronauts under deep.
Lei TANG ; Qiaoling TANG ; Ye LI ; Li WANG ; Feng ZHANG ; Xiangbin ZHANG ; Ran LIU ; Le ZHANG
Journal of Central South University(Medical Sciences) 2025;50(8):1337-1345
As human deep space exploration enters a practical phase, ensuring astronaut health and safety has become a critical determinant of mission success. The cerebrovascular system, essential for maintaining brain function, is highly sensitive to environmental changes. Cerebrovascular diseases represent one of the characteristic adverse effects of deep space conditions such as microgravity and high-energy radiation, and have emerged as a frontier challenge in space medicine. Based on experiences from manned space missions, major research challenges persist, particularly the lack of experimental data specific to the lunar environment and the unclear threshold for low-dose radiation-induced injury. Elucidating the mechanisms and multifactorial interactions by which deep space environments impact cerebrovascular structure and function, and summarizing the key risk factors, pathological processes, and recent advances in monitoring and early-warning technologies for cerebrovascular diseases in lunar astronauts, and of crucial importance. A comprehensive understanding of the interplay between deep space environmental stressors and cerebrovascular injury, as well as the development of personalized prevention and intervention strategies, will provide both theoretical and practical foundations for safeguarding cerebrovascular health in future Chinese deep space missions, while promoting progress in related biomedical research, technological innovation, and international collaboration.
Humans
;
Astronauts
;
Cerebrovascular Disorders/etiology*
;
Space Flight
;
Weightlessness/adverse effects*
;
Risk Factors
;
Moon
5.Salvianolic Acid B and Ginsenoside Rg1 Combination Attenuates Cerebral Edema Accompanying Glymphatic Modulation.
Lingxiao ZHANG ; Yanan SHAO ; Zhao FANG ; Siqi CHEN ; Yixuan WANG ; Han SHA ; Yuhan ZHANG ; Linlin WANG ; Yi JIN ; Hao CHEN ; Baohong JIANG
Neuroscience Bulletin 2025;41(11):1909-1923
Cerebral edema is characterized by fluid accumulation, and the glymphatic system (GS) plays a pivotal role in regulating fluid transport. Using the Tenecteplase system, magnesium salt of salvianolic acid B/ginsenoside Rg1 (SalB/Rg1) was injected intravenously into mice 4.5 h after middle cerebral artery occlusion and once every 24 h for the following 72 h. GS function was assessed by Evans blue imaging, near-infrared fluorescence region II (NIR-II) imaging, and magnetic resonance imaging (MRI). SalB/Rg1 had significant effects on reducing the infarct volume and hemorrhagic transformation score, improving neurobehavioral function, and protecting tissue structure, especially inhibiting cerebral edema. Meanwhile, the influx/efflux drainage of GS was enhanced by SalB/Rg1 according to NIR-II imaging and MRI. SalB/Rg1 inhibited matrix metalloproteinase-9 (MMP-9) activity, reduced cleaved β-dystroglycan (β-DG), and stabilized aquaporin-4 (AQP4) polarity, which was verified by colocalization with CD31. Our findings indicated that SalB/Rg1 treatment enhances GS function and attenuates cerebral edema, accompanying the regulation of the MMP9/β-DG/AQP4 pathway.
Animals
;
Ginsenosides/administration & dosage*
;
Brain Edema/etiology*
;
Male
;
Benzofurans/administration & dosage*
;
Glymphatic System/diagnostic imaging*
;
Mice
;
Infarction, Middle Cerebral Artery/drug therapy*
;
Aquaporin 4/metabolism*
;
Disease Models, Animal
;
Mice, Inbred C57BL
;
Matrix Metalloproteinase 9/metabolism*
;
Neuroprotective Agents/pharmacology*
;
Depsides
6.Correlation of enzyme activities and genotype with clinical manifestations in Chinese patients of different sexes with classical and late-onset Fabry disease.
Wenkai GUO ; Yuansheng XIE ; Pengcheng JI ; Qinggang LI ; Peng WANG ; Guangyan CAI ; Xiangmei CHEN
Frontiers of Medicine 2025;19(3):523-537
Fabry disease, a rare genetic disorder affecting multiple organs, has understudied correlations among enzyme activity, genotype, and clinical manifestations in patients of different sexes with classical and late-onset phenotypes. In this study, clinical data, α-Gal A activity, and GLA gene test results of 311 patients, who were categorized by classical and late-onset phenotypes, ⩽5% and > 5% of the normal mean value of enzyme activity, and truncated and nontruncated mutation groups, were collected. The common clinical manifestations of Fabry disease included acroparesthesia, hypohidrosis/anhidrosis, neuropsychiatric system, and renal and cardiovascular involvement. Multiorgan involvement was higher in males and classical phenotype patients. In both sexes, classical patients commonly presented with acroparesthesia and multiorgan involvement, whereas late-onset patients showed renal, neuropsychiatric, and cardiovascular involvement. Male and classical patients had lower enzyme activity than female and late-onset patients, respectively. Classical males with enzyme activity of ⩽5% of the normal mean level showed higher multiorgan involvement frequency than those with enzyme activity of > 5%, whereas no significant difference was observed among females. Ninety-five gene mutation sites were detected, with significant phenotype heterogeneity in patients with the same mutation. No significant difference in enzyme activity or clinical manifestations was observed between truncated and nontruncated mutations. Overall, male patients with Fabry disease, regardless of classical or late-onset phenotype, have a higher frequency of multiple-organ involvement and lower α-Gal A activity than female patients. α-Gal A activity was closely correlated with clinical symptoms in males but weakly correlated with clinical manifestations in females. The clinical manifestations of patients with the same mutation are heterogeneous, and the correlation between gene mutation and enzyme activity or clinical manifestation is weak.
Adolescent
;
Adult
;
Aged
;
Female
;
Humans
;
Male
;
Middle Aged
;
Young Adult
;
Age of Onset
;
alpha-Galactosidase/metabolism*
;
China
;
Fabry Disease/enzymology*
;
Genotype
;
Mutation
;
Phenotype
;
Sex Factors
;
East Asian People/genetics*
7.Hypotension with neurovascular changes and cognitive dysfunction: An epidemiological, pathobiological, and treatment review.
Yingzhe CHENG ; Lin LIN ; Peilin HUANG ; Jiejun ZHANG ; Yanping WANG ; Xiaodong PAN
Chinese Medical Journal 2025;138(4):405-418
Hypotension is a leading cause of age-related cognitive impairment. The available literature evidences that vascular factors are associated with dementia and that hypotension alters cerebral perfusion flow and can aggravate the neurodegeneration of Alzheimer's disease (AD). Despite the discovery of biomarkers and the recent progress made in neurovascular biology, epidemiology, and brain imaging, some key issues remain largely unresolved: the potential mechanisms underlying the neural deterioration observed in AD, the effect of cerebrovascular alterations on cognitive deficits, and the positive effects of hypotension treatment on cognition. Therefore, further well-designed studies are needed to unravel the potential association between hypotension and cognitive dysfunction and reveal the potential benefits of hypotension treatment for AD patients. Here, we review the current epidemiological, pathobiological, and treatment-related literature on neurovascular changes and hypotension-related cognitive dysfunction and highlight the unsettled but imminent issues that warrant future research endeavors.
Humans
;
Hypotension/complications*
;
Cognitive Dysfunction/etiology*
;
Alzheimer Disease/epidemiology*
;
Cerebrovascular Circulation/physiology*
;
Cognition Disorders/etiology*
8.Spicy food consumption and risk of vascular disease: Evidence from a large-scale Chinese prospective cohort of 0.5 million people.
Dongfang YOU ; Dianjianyi SUN ; Ziyu ZHAO ; Mingyu SONG ; Lulu PAN ; Yaqian WU ; Yingdan TANG ; Mengyi LU ; Fang SHAO ; Sipeng SHEN ; Jianling BAI ; Honggang YI ; Ruyang ZHANG ; Yongyue WEI ; Hongxia MA ; Hongyang XU ; Canqing YU ; Jun LV ; Pei PEI ; Ling YANG ; Yiping CHEN ; Zhengming CHEN ; Hongbing SHEN ; Feng CHEN ; Yang ZHAO ; Liming LI
Chinese Medical Journal 2025;138(14):1696-1704
BACKGROUND:
Spicy food consumption has been reported to be inversely associated with mortality from multiple diseases. However, the effect of spicy food intake on the incidence of vascular diseases in the Chinese population remains unclear. This study was conducted to explore this association.
METHODS:
This study was performed using the large-scale China Kadoorie Biobank (CKB) prospective cohort of 486,335 participants. The primary outcomes were vascular disease, ischemic heart disease (IHD), major coronary events (MCEs), cerebrovascular disease, stroke, and non-stroke cerebrovascular disease. A Cox proportional hazards regression model was used to assess the association between spicy food consumption and incident vascular diseases. Subgroup analysis was also performed to evaluate the heterogeneity of the association between spicy food consumption and the risk of vascular disease stratified by several basic characteristics. In addition, the joint effects of spicy food consumption and the healthy lifestyle score on the risk of vascular disease were also evaluated, and sensitivity analyses were performed to assess the reliability of the association results.
RESULTS:
During a median follow-up time of 12.1 years, a total of 136,125 patients with vascular disease, 46,689 patients with IHD, 10,097 patients with MCEs, 80,114 patients with cerebrovascular disease, 56,726 patients with stroke, and 40,098 patients with non-stroke cerebrovascular disease were identified. Participants who consumed spicy food 1-2 days/week (hazard ratio [HR] = 0.95, 95% confidence interval [95% CI] = [0.93, 0.97], P <0.001), 3-5 days/week (HR = 0.96, 95% CI = [0.94, 0.99], P = 0.003), and 6-7 days/week (HR = 0.97, 95% CI = [0.95, 0.99], P = 0.002) had a significantly lower risk of vascular disease than those who consumed spicy food less than once a week ( Ptrend <0.001), especially in those who were younger and living in rural areas. Notably, the disease-based subgroup analysis indicated that the inverse associations remained in IHD ( Ptrend = 0.011) and MCEs ( Ptrend = 0.002) risk. Intriguingly, there was an interaction effect between spicy food consumption and the healthy lifestyle score on the risk of IHD ( Pinteraction = 0.037).
CONCLUSIONS
Our findings support an inverse association between spicy food consumption and vascular disease in the Chinese population, which may provide additional dietary guidance for the prevention of vascular diseases.
Humans
;
Male
;
Female
;
Prospective Studies
;
Middle Aged
;
Aged
;
Vascular Diseases/etiology*
;
Risk Factors
;
China/epidemiology*
;
Adult
;
Proportional Hazards Models
;
Cerebrovascular Disorders/epidemiology*
;
East Asian People
9.Steroids combined with anticoagulant in acute/subacute severe cerebral venous thrombosis.
Shimin HU ; Yaqin GU ; Tingyu ZHAO ; Kaiyuan ZHANG ; Jingkai LI ; Chen ZHOU ; Haiqing SONG ; Zhi LIU ; Xunming JI ; Jiangang DUAN
Chinese Medical Journal 2025;138(15):1825-1834
BACKGROUND:
Inflammation plays a critical role in severe cerebral venous thrombosis (CVT) pathogenesis, but the benefits of anti-inflammatory therapies remain unclear. This study aimed to investigate the association between steroid therapy combined with anticoagulation and the prognosis of acute/subacute severe CVT patients.
METHODS:
A prospective cohort study enrolled patients with acute/subacute severe CVT at Xuanwu Hospital (July 2020-January 2024). Patients were allocated into steroid and non-steroid groups based on the treatment they received. Functional outcomes (modified Rankin scale [mRS]) were evaluated at admission, discharge, and 6 months after discharge. Serum high-sensitivity C-reactive protein (hs-CRP), interleukin-6 (IL-6), cerebrospinal fluid (CSF) IL-6, and intracranial pressure were measured at admission and discharge in the steroid group. Fundoscopic Frisén grades were assessed at admission and 6 months after discharge. Univariate and multivariate logistic regression were used to evaluat associations between steroid use and favorable outcomes (mRS ≤2) at the 6-month follow-up. Paired tests assessed changes in hs-CRP and other variables before and after treatment, and Spearman's correlations were used to analyze relationships between these changes and functional improvements.
RESULTS:
A total of 107 and 58 patients in the steroid and non-steroid groups, respectively, were included in the analysis. Compared with the non-steroid group, the steroid group had a higher likelihood of achieving an mRS score of 0-2 (93.5% vs . 82.5%, odds ratio [OR] = 2.98, P = 0.037) at the 6-month follow-up. After adjusting for confounding factors, the result remained consistent. Pulsed steroid therapy did not increase mortality during hospitalization or follow-up, nor did it lead to severe steroid-related complications (all P >0.05). Patients in the steroid group showed a significant reduction in serum hs-CRP, IL-6, CSF IL-6, and intracranial pressure at discharge compared to at admission, as well as a significant reduction in the fundoscopic Frisén grade at the 6-month follow-up compare to at admission (all P <0.001). A reduction in serum inflammatory marker levels during hospitalization positively correlated with improvements in functional outcomes ( P <0.05).
CONCLUSION:
Short-term steroid use may be an effective and safe adjuvant therapy for acute/subacute severe CVT when used alongside standard anticoagulant treatments, which are likely due to suppression of the inflammatory response. However, these findings require further validation in randomized controlled trials.
TRAIL REGISTRATION
ClinicalTrials.gov , NCT05990894.
Adult
;
Aged
;
Female
;
Humans
;
Male
;
Middle Aged
;
Anticoagulants/therapeutic use*
;
C-Reactive Protein/metabolism*
;
Interleukin-6/metabolism*
;
Intracranial Thrombosis/drug therapy*
;
Prospective Studies
;
Steroids/therapeutic use*
;
Venous Thrombosis/drug therapy*
10.Inflammatory disorders that affect the cerebral small vessels.
Fei HAN ; Siyuan FAN ; Bo HOU ; Lixin ZHOU ; Ming YAO ; Min SHEN ; Yicheng ZHU ; Joanna M WARDLAW ; Jun NI
Chinese Medical Journal 2025;138(11):1301-1312
This comprehensive review synthesizes the latest advancements in understanding inflammatory disorders affecting cerebral small vessels, a distinct yet understudied category within cerebral small vessel diseases (SVD). Unlike classical SVD, these inflammatory conditions exhibit unique clinical presentations, imaging patterns, and pathophysiological mechanisms, posing significant diagnostic and therapeutic challenges. Highlighting their heterogeneity, this review spans primary angiitis of the central nervous system, cerebral amyloid angiopathy-related inflammation, systemic vasculitis, secondary vasculitis, and vasculitis in autoinflammatory diseases. Key discussions focus on emerging insights into immune-mediated processes, neuroimaging characteristics, and histopathological distinctions. Furthermore, this review underscores the importance of standardized diagnostic frameworks, individualized immunomodulation approaches, and novel targeted therapies to address unmet clinical demands.
Humans
;
Cerebral Small Vessel Diseases/pathology*
;
Inflammation/pathology*
;
Cerebral Amyloid Angiopathy/pathology*
;
Vasculitis, Central Nervous System/pathology*
;
Vasculitis/pathology*


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