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.When Puberty Comes Too Soon: Central Precocious Puberty with Pituitary Microadenoma and Pineal Cyst
Fawza Nabila Faudzi ; Asmalaini Mohamad ; Nalini M. Selveindran
Journal of the ASEAN Federation of Endocrine Societies 2026;41(S1):145-146
Introduction:
Central precocious puberty (CPP) is defined as premature
activation of the hypothalamic-pituitary-gonadal axis,
resulting in the development of secondary sexual
characteristics before 8 years of age in girls. While most
cases are idiopathic, intracranial pathologies such as
pituitary lesions may cause CPP. Early identification is
essential to optimize outcomes and minimize psychosocial
impact. We report a case of CPP associated with pituitary
microadenoma and pineal cyst from the Paediatric
Department, Hospital Sultanah Nur Zahirah.
Case:
A 4-year-old female presented with bilateral breast enlargement, with ultrasonography showing normal fibroglandular
tissue. Breast development was noted since 3 months of
age, with whitish vaginal discharge from 2 years. She
demonstrated accelerated growth, with height and weight
above the 95th centile. There were no features suggestive
of peripheral causes or raised intracranial pressure.
Examination revealed Tanner stage A1B3P2. Bone age was
markedly advanced (11 years vs. chronological age 4 years). Hormonal evaluation showed elevated LH (3.28 IU/L) and
follicle-stimulating hormone (4.79 IU/L), consistent with
CPP. MRI demonstrated focal delayed enhancement in
the posterolateral pituitary suggestive of microadenoma,
and an incidental pineal cyst without complex features.
Ophthalmological assessment was normal. Neurosurgical
evaluation advised conservative management with annual
imaging surveillance. Intramuscular Triptorelin was
initiated at 4 years 1 month. Follow-up showed regression
of pubertal progression, resolution of vaginal discharge,
and reduced growth velocity to 6 cm/year.
Conclusion
This case highlights the importance of thorough evaluation
in CPP to identify underlying intracranial pathology.
Early initiation of gonadotropin-releasing hormone
analog therapy effectively halts pubertal progression and
preserves growth potential.
Central Nervous System Cysts
;
Puberty
3.Presenting characteristics, histological subtypes and outcomes of adult central nervous system tumours: retrospective review of a surgical cohort.
Mervyn Jun Rui LIM ; Yilong ZHENG ; Sean Wai-Onn ENG ; Celest Wen Ting SEAH ; Shuning FU ; Lucas Zheng Long LAM ; Joel Yat Seng WONG ; Balamurugan VELLAYAPPAN ; Andrea Li-Ann WONG ; Kejia TEO ; Vincent Diong Weng NGA ; Sein LWIN ; Tseng Tsai YEO
Singapore medical journal 2025;66(10):545-550
INTRODUCTION:
The most recent local study on the incidence of histological subtypes of all brain and spinal tumours treated surgically was published in 2000. In view of the outdated data, we investigated the presenting characteristics, histological subtypes and outcomes of adult patients who underwent surgery for brain or spinal tumours at our institution.
METHODS:
A single-centre retrospective review of 501 patients who underwent surgery for brain or spinal tumours from 2016 to 2020 was conducted. The inclusion criteria were (a) patients who had a brain or spinal tumour that was histologically verified and (b) patients who were aged 18 years and above at the time of surgery.
RESULTS:
Four hundred and thirty-five patients (86.8%) had brain tumours and 66 patients (13.2%) had spinal tumours. Patients with brain tumours frequently presented with cranial nerve palsy, headache and weakness, while patients with spinal tumours frequently presented with weakness, numbness and back pain. Overall, the most common histological types of brain and spinal tumours were metastases, meningiomas and tumours of the sellar region. The most common complications after surgery were cerebrospinal fluid leak, diabetes insipidus and urinary tract infection. In addition, 15.2% of the brain tumours and 13.6% of the spinal tumours recurred, while 25.7% of patients with brain tumours and 18.2% of patients with spinal tumours died. High-grade gliomas and metastases had the poorest survival and highest recurrence rates.
CONCLUSION
This study serves as a comprehensive update of the epidemiology of brain and spinal tumours and could help guide further studies on brain and spinal tumours.
Humans
;
Retrospective Studies
;
Female
;
Male
;
Middle Aged
;
Adult
;
Aged
;
Central Nervous System Neoplasms/pathology*
;
Brain Neoplasms/pathology*
;
Treatment Outcome
;
Postoperative Complications
;
Young Adult
;
Spinal Neoplasms/pathology*
;
Neoplasm Recurrence, Local
;
Aged, 80 and over
;
Adolescent
4.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*
5.Practice guideline on the prevention and treatment of central line associated bloodstream infection in 2025.
CHINESE SOCIETY OF CRITICAL CARE MEDICINE
Chinese Critical Care Medicine 2025;37(3):193-220
Central line associated bloodstream infection (CLABSI) is the most severe complication of indwelling intravascular catheters and one of the most common causes of intensive care unit (ICU)- or hospital-acquired infections. Once CLABSI occurs, it significantly increases the risk of mortality, long of hospital stay, and healthcare economic burden. In recent years, multiple large-scale clinical studies on the diagnosis, treatment, and prevention of CLABSI have been completed, providing evidence-based medical support for related practices. Additionally, evolving global trends in antibiotic resistance epidemiology and the development of novel antimicrobial agents necessitate adjustments in clinical management strategies. Based on these developments, the Chinese Society of Critical Care Medicine has updated and revised the Guideline on the Prevention and Treatment of Intravascular Catheter-Related Infections (2007). This guideline was developed following the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) system for evidence quality assessment. Guided by clinical questions, the working group initiated the process by defining key clinical issues, conducting literature searches, screening studies, performing meta-analyses, and synthesizing evidence-based findings to draft preliminary recommendations. These recommendations underwent iterative revisions through expert panel reviews, remote and in-person meetings, and two rounds of voting by the Standing Committee of the Chinese Society of Critical Care Medicine before finalization. The guideline comprises 52 recommendations, focusing on adult patients with central venous catheters in ICU. Key areas addressed include: selection of catheter insertion sites and techniques, catheter type and design, catheter management, prevention, diagnosis, and treatment of CLABSI. The guideline aims to provide ICU healthcare professionals with best practices for central line management, ensuring standardized clinical protocols for adult CLABSI.
Humans
;
Catheter-Related Infections/therapy*
;
Catheterization, Central Venous/adverse effects*
;
Bacteremia/therapy*
;
Intensive Care Units
;
Cross Infection/prevention & control*
6.A real-world study on the application of modified midline catheter and central venous catheter in medical intensive care unit.
Guo LONG ; Zixi WANG ; Huan PENG ; Xiaoyuan CAO ; Yuxin LIU ; Li TAN
Chinese Critical Care Medicine 2025;37(10):956-961
OBJECTIVE:
To investigate the differences in indwelling duration, clinical scenarios, and complications between the modified midline catheter (MMC) and the central venous catheter (CVC) in the treatment of patients in the medical intensive care unit (ICU) and the risk factors for complications based on real-world data.
METHODS:
A retrospective cohort study was conducted. The adult patients admitted to the medical ICU of the Third Xiangya Hospital of Central South University and had undergone placement of either a MMC or a CVC between January 1, 2023, and July 31, 2024, were consecutively enrolled by querying the hospital's electronic medical record system. Based on the type of catheter inserted, the patients were divided into the MMC group and the CVC group. The two groups were compared regarding the selection of catheters in the context of different underlying diseases, the actual clinical application after catheterization, catheter-related complications, the international normalized ratio (INR) and platelet count (PLT) during puncture and catheterization, the length of ICU stay, total length of hospital stay, catheter indwelling duration, and mortality during hospitalization. Multivariate Logistic regression analysis was employed to identify independent risk factors for catheter removal.
RESULTS:
Among the 274 patients, 52 received a MMC and 222 received a CVC. The utilization rate of MMC was significantly higher than that of CVC in patients with acute respiratory distress syndrome (ARDS), cardiovascular disease, and cancer [ARDS: 92.3% (48/52) vs. 70.3% (156/222), cardiovascular disease: 84.6% (44/52) vs. 54.5% (121/222), cancer: 30.8% (16/52) vs. 17.1% (38/222), all P < 0.05]. However, the use of MMC was significantly lower than CVC when vasoactive drug infusion was required [57.7% (30/52) vs. 79.7% (177/222), P < 0.05]. A significantly higher proportion of patients in the MMC group had a catheter indwelling time ≥ 12 days as compared with the CVC group [32.7% (17/52) vs. 13.5% (30/222), P < 0.05]. There were no statistically significant differences in other underlying diseases, venous access usage, INR and PLT during puncture and catheterization, length of ICU stay, total length of hospital stay, and in-hospital mortality of patients between the two groups. Regarding catheter-related complications, although the incidence of partial or complete catheter removal in the MMC group was significantly higher than that in the CVC group [36.5% (19/52) vs. 5.4% (12/222), P < 0.05], the incidence of puncture site fluid leakage, puncture site skin allergy, and deep vein thrombosis were significantly lower than those in the CVC group [puncture site fluid leakage: 1.9% (1/52) vs. 22.1% (49/222), puncture site skin allergy: 0% (0/52) vs. 20.7% (46/222), deep vein thrombosis: 3.8% (2/52) vs. 16.7% (37/222), all P < 0.05]. Furthermore, the proportion of patients experiencing three or more types of complications in the MMC group was significantly lower than that in the CVC group [5.8% (3/52) vs. 17.6% (39/222), P < 0.05]. Multivariate Logistic regression analysis of risk factors for catheter removal identified the use of a MMC [odds ratio (OR) = 8.518, 95% confidence interval (95%CI) was 3.710-19.560, P < 0.001] and a catheter indwelling time ≥ 12 days (OR = 3.133, 95%CI was 1.297-7.567, P = 0.011) as independent risk factors.
CONCLUSIONS
MMC was more frequently used in patients with ARDS, cardiovascular disease, and cancer, whereas CVC was primarily employed for vasoactive drug infusion. The use of MMC and a longer indwelling time were identified as independent risk factors for catheter removal. Despite a higher removal rate, the overall incidence of complications was significantly lower with MMC than with CVC. These findings suggest that MMC could serve as a routine alternative to CVC in most of clinical scenarios, provided that measures are implemented to prevent removal.
Humans
;
Retrospective Studies
;
Intensive Care Units
;
Catheterization, Central Venous/methods*
;
Central Venous Catheters
;
Risk Factors
;
Length of Stay
;
Male
;
Female
;
Middle Aged
;
Adult
;
Catheters, Indwelling
;
Aged
7.Advances in the Studies of MicroRNA-1976 in Aberrant Cell Cycle Diseases.
Hao-Yu JI ; Hao CHEN ; Liang SHI ; Meng ZHANG ; Ting CHEN ; Ying-Ming KONG ; Rong-Ke FENG
Acta Academiae Medicinae Sinicae 2025;47(4):644-650
Most tumor cells and healthy neurons are at rest during G0 phase.Once the cell cycle is abnormally re-entered under certain conditions,the proliferation of tumor cells and the degenerative necrosis of neurons can be initiated.From the perspective of the cell cycle,cancer and central nervous system diseases,two seemingly different disease types,have a common pathogenesis.This type of diseases is named aberrant cell cycle diseases.As a newly discovered microRNA(miR),miR-1976 is closely related to the regulation of the cell cycle.This review summarizes the progress in the research on miR-1976 in cancer and central nervous system diseases,aiming to provide a reference for the clinical application of miR-1976 in aberrant cell cycle diseases in the future.
MicroRNAs/genetics*
;
Humans
;
Cell Cycle/genetics*
;
Neoplasms/genetics*
;
Central Nervous System Diseases/genetics*
8.Genetic analysis of a child with gastrointestinal hemorrhage and Cerebroretinal microangiopathy with calcifications and cysts and a literature review.
Tao JIANG ; Shuangjie LI ; Yanfang TAN ; Wenxian OUYANG
Chinese Journal of Medical Genetics 2025;42(4):486-494
OBJECTIVE:
To explore the clinical characteristics and genetic cause of a child with gastrointestinal hemorrhage and Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) and to review the literature.
METHODS:
Clinical data of a child with gastrointestinal hemorrhage with CRMCC admitted to the Hepatology Department of Hunan Children's Hospital in September 2019 were collected, and peripheral blood DNA of the child and his parents were analyzed by whole exome sequencing. Candidate variants were validated by Sanger sequencing, followed by bioinformatics analysis, American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines for the Interpretation of Sequence Variants pathogenicity classification, and protein structure prediction. A literature search with "Coats Plus syndrome" or "Cerebroretinal microangiopathy with calcifications and cysts" as keywords was conducted at PubMed, China National Knowledge Infrastructure and Wanfang databases to include recently published studies (up to December 2023). This study has been approved by the Ethics Committee of Hunan Children's Hospital (Ethics No. KY2020-07). Informed consent for clinical research was obtained from the guardian of the child.
RESULTS:
The proband was a 10-year-10-month-old boy. The clinical manifestations were intrauterine and postnatal growth retardation, gastrointestinal hemorrhage, liver fibrosis, panhemopenia, bilateral exudative retinopathy, intracranial lesions and facial pigmentation. WES and Sanger sequencing revealed two novel heterozygous variants in the CTC1 gene: c.787G>A (p.Val263Met) in exon 5 and c.2930C>G (p.Ser977Cys) in exon 17, which were inherited from his mother and father, respectively. According to ACMG pathogenicity classification, both missense variants were classified as variants of uncertain significance (VUS). Protein structure prediction showed the absence of LIG_SH3_3 motif and LIG_SH3_3 motif, and the p.Ser977Cys mutation may affect the binding between CST (CTC1-STN1-TEN) complex and DNA strand. The child had continued to experience recurrent gastrointestinal bleeding episodes despite propranolol treatment, but the condition was controlled after liver transplantation. According to the predefined literature search strategy of this study, a total of 10 relevant articles on pediatric CRMCC patients were retrieved, involving 11 children with gastrointestinal bleeding. Pharmacological and endoscopic therapies play a certain role in the management of CRMCC children complicated with gastrointestinal bleeding.
CONCLUSION
The CTC1 gene c.787G>A and c.2930C>G variants probably underlay CRMCC in this child. This study has broadened the variation spectrum of CTC1-related diseases and provided a basis for genetic counseling. Liver transplantation may be an important treatment for gastrointestinal hemorrhage in children who do not respond well to medication and endoscopic therapy.
Humans
;
Male
;
Gastrointestinal Hemorrhage/genetics*
;
Child
;
Calcinosis/genetics*
;
Cysts/genetics*
;
Central Nervous System Cysts/genetics*
;
Mutation
;
Exome Sequencing
;
Leukoencephalopathies
;
Retinal Diseases
;
Seizures
;
Muscle Spasticity
;
Brain Neoplasms
;
Ataxia
9.Dural arteriovenous fistula in a neonate presenting with respiratory distress.
Yue DU ; Jing-Hua ZHANG ; Jun-Liang LI ; Zhou-Ping WANG ; Mei-Gui WU
Chinese Journal of Contemporary Pediatrics 2025;27(4):500-504
The patient, a 20-day-old male, was admitted due to respiratory distress that had persisted for 20 days after birth. The main clinical manifestations included gradually worsening respiratory distress and edema. The patient received treatment including mechanical ventilation and diuretics. Echocardiography indicated cardiomegaly, pulmonary hypertension, and heart failure. A comprehensive systemic examination revealed a significant blowing vascular murmur upon auscultation over the anterior fontanelle and bilateral temporal regions. Further imaging studies including cranial magnetic resonance imaging, magnetic resonance angiography, and magnetic resonance venography showed marked dilation of the superior sagittal sinus, transverse sinus, and sigmoid sinus, leading to a definitive diagnosis of dural arteriovenous fistula. After a multidisciplinary consultation, the patient underwent cerebral angiography and partial embolization of the left parietal arteriovenous fistula. Postoperatively, the patient was treated with positive inotropes, diuretics, and fluid restriction. Ultimately, the patient was weaned off the ventilator and discharged in improved condition. This article reports a case of neonatal dural arteriovenous fistula presenting with respiratory distress and discusses the multidisciplinary approach to managing this condition, which aids in early disease recognition and guides clinical decision-making.
Humans
;
Male
;
Infant, Newborn
;
Central Nervous System Vascular Malformations/diagnosis*
;
Respiratory Distress Syndrome, Newborn/etiology*
;
Embolization, Therapeutic
10.Granulomatous primary central nervous system vasculitis in a child.
Ya-Nan ZHANG ; Chang-Hong DING ; Shu-Hong REN ; Wei-Hua ZHANG ; Fang LIU ; Nan ZHANG ; Yu-Juan ZHANG
Chinese Journal of Contemporary Pediatrics 2025;27(9):1140-1142
A 14-year-old boy was admitted to the hospital due to a single episode of afebrile seizure and four hours of impaired consciousness. Three months prior to admission, he had a history of bilateral uveitis. Cerebrospinal fluid analysis revealed a mild elevation in white blood cell count. Cranial magnetic resonance imaging and contrast-enhanced scans showed multiple abnormal signals in both cerebral hemispheres, with punctate and nodular enhancement. Susceptibility-weighted imaging revealed multiple punctate hemorrhages within lesions in the bilateral frontal and left parietal lobes, suggestive of vasculitis. Brain biopsy demonstrated inflammatory granulomatous lesions. No secondary causes were identified, and the final diagnosis was granulomatous primary central nervous system vasculitis. The patient's condition improved after treatment with methylprednisolone sodium succinate and mycophenolate mofetil. This report describes a rare case of granulomatous central nervous system vasculitis in a child and provides valuable insights for the diagnosis and treatment of this disease.
Humans
;
Male
;
Vasculitis, Central Nervous System/diagnosis*
;
Adolescent
;
Magnetic Resonance Imaging
;
Granuloma/diagnosis*


Result Analysis
Print
Save
E-mail