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.Cultural adaptation and validation of the Indonesian version of Composite Autonomic Symptom Score-31
Widya Christine Manus ; Lothar Matheus Manson Vanende Silalahi ; Lise Insani Gulo ; The Maria Meiwati Widagdo
Medical Journal of Indonesia 2026;35(3):195-200
BACKGROUND :
The prevalence of autonomic nervous system disorders is increasing due to the complications of chronic illnesses that become more severe with age. The Composite Autonomic Symptom Score-31 (COMPASS-31) is a questionnaire that assesses autonomic function and has been utilized globally. This study aimed to conduct cultural adaptation and validation of the COMPASS-31 in Indonesia, particularly for the elderly.
METHODS :
This cross-sectional study involved elderly individuals aged 60 years and older. The process included translation, cultural adaptation, back-translation, and reliability tests. The COMPASS-31 questionnaire was translated from English to Indonesian by a certified translator, a native Indonesian speaker without medical background. A panel of experts comprising a neurologist, a gerontologist, and a physiologist discussed the translated questionnaire and made cultural adaptations. Facial and content validity tests were conducted on 11 elderly individuals. The inputs for revision are discussed by the expert panel. The questionnaire was then back-translated into English by a native English speaker, professional translator, without a medical background. The questionnaire was checked for reliability in 52 elderly subjects. Reliability testing was conducted separately for the binomial and polynomial questions of the COMPASS-31 questionnaire.
RESULTS :
The reliability test yielded a Cronbach’s alpha of 0.729 for the binomial questions and 0.722 for the polynomial questions, indicating high reliability.
CONCLUSIONS
The Indonesian version of COMPASS-31 questionnaire is a valid and reliable symptom assessment tool for use in the elderly.
aging
;
autonomic disorders
;
autonomic nervous system diseases
;
surveys and questionnaires
4.Hypno-cardiac physiology: Aiming for an organised study of the physiological effects of hypnosis on the cardiovascular system.
Donato Giuseppe LEO ; Simon S KELLER ; Riccardo PROIETTI
Journal of Integrative Medicine 2025;23(5):457-461
Hypnosis is a promising tool in the management of various conditions, such as anxiety and chronic pain. Preliminary studies have shown that hypnosis can directly affect the cardiovascular system, as it increases parasympathetic activation and reduces sympathetic activity. However, the literature related to the effects of hypnosis on cardiovascular health is scarce, mainly due to misconceptions about hypnosis among researchers and medical professionals. This opinion paper examines the role that hypnosis may play in cardiovascular health, highlighting the physiological mechanisms behind it. The evidence suggests that hypnosis has both direct (e.g., changes in the activity of the autonomic nervous system) and indirect (e.g., changes in healthy behaviours) effects on the cardiovascular system; however, further studies are needed to properly define its mechanisms of action and its applicability in improving cardiovascular health. Thus, this opinion paper advocates the adoption of the term "hypno-cardiac physiology" to identify a new research area that gathers experts from neuroscience and cardiovascular science with the joint aim of seeking further understanding of the effects of hypnosis on the cardiovascular system. The adoption of a dedicated term to identify the study of the cardiovascular response to hypnosis will encourage its implementation in cardiovascular health interventions, promoting awareness of its effects among the public and the healthcare community, and promoting the formation of dedicated multidisciplinary research groups and dedicated educational training for healthcare professional interested in its applications. Please cite this article as: Leo DG, Keller SS, Proietti R. Hypno-cardiac physiology: Aiming for an organised study of the physiological effects of hypnosis on the cardiovascular system. J Integr Med. 2025; 23(5):457-461.
Humans
;
Autonomic Nervous System/physiology*
;
Cardiovascular Physiological Phenomena
;
Cardiovascular System/physiopathology*
;
Hypnosis
5.Electroacupuncture at ST36 improves gastrointestinal motility disorders by promoting enteric nervous system regeneration through GDNF/Ret signaling in diabetic mice.
Jin-Lu GUO ; Shi LIU ; Sheng-Jie DING ; Xin YANG ; Fan DU
Journal of Integrative Medicine 2025;23(5):548-559
OBJECTIVE:
Diabetes-induced gastrointestinal (GI) motility disorders are increasingly prevalent. Damage to the enteric nervous system (ENS), composed primarily of enteric neurons and glial cells, is an essential mechanism involved in these disorders. Although electroacupuncture (EA) has shown the potential to mitigate enteric neuronal loss, its mechanism is not fully understood. Additionally, the effects of EA on enteric glial cells have not been investigated. Enteric neural precursor cells (ENPCs) contribute to the structural and functional integrity of the ENS, yet whether EA enhances their differentiation into enteric neurons and glial cells remains unexplored. This study investigates whether EA promotes ENS repair through enhancing ENPC-derived neurogenesis and gliogenesis and elucidates the potential molecular mechanisms involved.
METHODS:
Transgenic mice were used to trace Nestin+/nerve growth factor receptor (Ngfr)+ ENPCs labeled with green fluorescent protein (GFP) in vivo. Mice were randomly divided into four groups: control, diabetes mellitus (DM), DM + sham EA, and DM + EA. The effects of EA on diabetic mice were evaluated by GI motility, ENS structure, and ENPC differentiation. Glial cell line-derived neurotrophic factor (GDNF)/Ret signaling was detected to clarify the underlying molecular mechanisms.
RESULTS:
EA alleviated diabetes-induced GI motility disorders, as indicated by reduced whole gut transit time, shortened colonic bead expulsion time, and enhanced smooth muscle contractility. Furthermore, EA attenuated diabetes-induced losses of enteric neurons and glial cells, thereby restoring ENS integrity. Notably, EA reversed the diabetes-induced decrease in ENPCs and significantly increased the absolute number and the proportion of ENPC-derived enteric neurons. However, immunofluorescence analyses revealed no colocalization between EA-induced glial fibrillary acidic protein+ glial cells and GFP-labeled ENPCs. Mechanistically, GDNF/Ret signaling was elevated in intestinal tissues and upregulated in ENPCs in EA-treated diabetic mice.
CONCLUSION
EA facilitates ENS repair by promoting Nestin+/Ngfr+ ENPC differentiation into enteric neurons via upregulation of GDNF/Ret signaling, and driving enteric gliogenesis from non-Nestin+/Ngfr+ ENPCs. These findings highlight EA's role in ameliorating diabetes-induced GI dysmotility through ENPC-derived ENS restoration. Please cite this article as: Guo JL, Liu S, Ding SJ, Yang X, Du F. Electroacupuncture at ST36 improves gastrointestinal motility disorders by promoting enteric nervous system regeneration through GDNF/Ret signaling in diabetic mice. J Integr Med. 2025; 23(5):548-559.
Animals
;
Electroacupuncture
;
Enteric Nervous System/physiology*
;
Gastrointestinal Motility/physiology*
;
Glial Cell Line-Derived Neurotrophic Factor/metabolism*
;
Diabetes Mellitus, Experimental/therapy*
;
Signal Transduction
;
Mice
;
Gastrointestinal Diseases/physiopathology*
;
Proto-Oncogene Proteins c-ret/metabolism*
;
Mice, Transgenic
;
Male
;
Nerve Regeneration
;
Neural Stem Cells
;
Mice, Inbred C57BL
;
Acupuncture Points
6.Antisense oligonucleotide as novel therapies for neurogenetic disorders.
Chinese Journal of Medical Genetics 2025;42(1):102-113
Antisense oligonucleotide (ASO) was discovered several decades ago and initially used only as a research tool in the laboratory. In recent years, several ASO therapeutics have been developed for neurological disorders. Some of these therapeutics, including eteplirsen, golodirsen, viltolarsen, nusinersen and inotersen, have been approved by the Food and Drug Administration (FDA) and begun to draw the public's attention as an effective therapeutic approach. These novel therapeutics have shown great performance, while many similar therapeutics are under investigation and in clinical trials. This n-of-1 precision medicine may start a new chapter in the paradigm of therapeutics. Clinicians, clinical geneticists, and genetic counselors may know about this novel therapy, but very few may understand the background in details. During genetic counseling, they have the responsibility to convey the effectiveness, side effects and cost of such therapies to patients and their families. As these target therapies will require precise genetic diagnosis before treatment, healthcare professionals and genetic counselors play a vital role in relating the patients to the corresponding ASO drugs. This review has elaborated the mechanism of ASO therapies, including basic rationales, modifications, side effects and delivery routes. It also systemically summarized the FDA-approved ASO therapeutics and their applications for various neurological disorders, and discussed the limitations and challenges the real-world market may face and issues genetic counselor should take into consideration in the near future.
Humans
;
Oligonucleotides, Antisense/therapeutic use*
;
Nervous System Diseases/drug therapy*
;
Genetic Therapy/methods*
7.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
8.Value of different calculation methods for weight growth velocity in predicting long-term neurological and physical development outcomes in preterm infants.
Pei-Hong JI ; Xuan SUN ; Jin-Zhi GAO ; Ling CHEN
Chinese Journal of Contemporary Pediatrics 2025;27(2):165-170
OBJECTIVES:
To investigate the value of weight growth velocity, calculated using the Patel exponential model and the Z-score change method, in predicting the neurological and physical development outcomes of preterm infants with a gestational age of <30 weeks in the long term.
METHODS:
A retrospective study was conducted involving preterm infants with a gestational age of <30 weeks who were hospitalized and treated in the Department of Neonatology at Tongji Hospital, Huazhong University of Science and Technology, from January 2017 to June 2022, and were followed up at the outpatient service more than 18 months of age. The preterm infants were divided into high and low rate groups based on the two calculation methods, and the two methods were compared regarding their predictive value for neurological and physical development outcomes in the long term.
RESULTS:
The average age of the last follow-up was (23.0±3.6) months. For neurological development, according to the Patel exponential model, the low rate group exhibited a significantly higher abnormal rate in the fine motor domain compared to the high rate group (P<0.05). Using the Z-score change method, the low rate group had significantly higher abnormal rates in both gross motor and fine motor domains, and significantly lower developmental quotients for gross motor, fine motor, and adaptive behavior domains compared to the high rate group (P<0.05). For physical development, there were no significant differences in body length, body weight, head circumference, or the incidence rate of growth restriction between the low rate and high rate groups identified by either method (P>0.05).
CONCLUSIONS
Weight growth velocity calculated using the Z-score change method is more effective in predicting long-term neurological outcomes in preterm infants, while weight growth velocity derived from both methods shows no significant association with long-term physical development outcomes.
Humans
;
Infant, Premature/growth & development*
;
Retrospective Studies
;
Infant, Newborn
;
Child Development
;
Male
;
Female
;
Body Weight
;
Infant
;
Nervous System/growth & development*
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.Dynamic changes in serum microRNA-15b and vascular endothelial growth factor in preterm infants with bronchopulmonary dysplasia and their value in assessing neurodevelopment.
Qian CHEN ; Pei-Pei ZHANG ; Qing-Hua LU ; Zhen-Xia WAN ; Lei HUANG
Chinese Journal of Contemporary Pediatrics 2025;27(9):1062-1070
OBJECTIVES:
To investigate the dynamic changes in serum microRNA-15b (miR-15b) and vascular endothelial growth factor (VEGF) in preterm infants with mild or moderate-to-severe bronchopulmonary dysplasia (BPD), as well as their value in assessing short-term neurodevelopment.
METHODS:
A retrospective analysis was conducted on the medical data of 156 preterm infants with BPD who were admitted to the neonatal intensive care unit from January 2020 to February 2023. According to the severity of BPD, they were divided into a mild group (n=88) and a moderate-to-severe group (n=68). Serum levels of miR-15b and VEGF were measured on postnatal days 1, 7, 14, and 28. Repeated measures analysis of variance was used to assess the dynamic changes in serum levels of miR-15b and VEGF. The mediating effect of VEGF between miR-15b and short-term neurological development was tested and analyzed using the stepwise regression method and the Bootstrap method. Logistic regression analysis was used to identify factors influencing adverse neurodevelopmental outcomes.
RESULTS:
In the mild group, there was a significant reduction in the serum level of miR-15b and a significant increase in VEGF over time (P<0.05), while in the moderate-to-severe group, there was a significant increase in miR-15b and a significant reduction in VEGF over time (P<0.05). Serum miR-15b and VEGF levels were important factors influencing neurodevelopmental outcomes, showing independent correlations (P<0.001). The mediating effect analysis indicated that miR-15b indirectly affected short-term neurodevelopment by inhibiting VEGF expression [indirect effect: -0.705 (95%CI: -1.178 to -0.372)], with the indirect effect accounting for 54.36% of the total effect.
CONCLUSIONS
There are different changing trends in serum levels of miR-15b and VEGF in preterm infants with mild and moderate-to-severe BPD. miR-15b primarily influences neurodevelopment through VEGF.
Humans
;
Bronchopulmonary Dysplasia/physiopathology*
;
MicroRNAs/blood*
;
Vascular Endothelial Growth Factor A/blood*
;
Infant, Newborn
;
Infant, Premature/blood*
;
Female
;
Male
;
Retrospective Studies
;
Child Development
;
Nervous System/growth & development*


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