1.Chorea Hyperglycemia Basal Ganglia Syndrome: A case report of a rare diabetes complication
Cristina A. Dorado ; Neshreen J. Kingking ; Remirr Theodore P. Nolasco ; Meliza Dadua-Ecal ; Jay S. Fonte
Philippine Journal of Internal Medicine 2024;62(1):326-330
Introduction:
We present a patient with long-standing uncontrolled type 2 diabetes mellitus (T2 DM) who developed
sudden onset of choreiform movement, which rapidly resolved after insulin therapy and haloperidol.
Case Description:
A 53-year-old Filipino male, with T2DM and hypertension for more than 10 years, presented with sudden
onset of hyperkinetic, involuntary, non-patterned, continuous movements of the left upper and lower extremities.
Investigations revealed severe hyperglycemia without acidemia and ketonuria. Cranial computed tomography scan
showed hyperdensity on the right caudate and lentiform nuclei. On cranial magnetic resonance imaging, there was T1-
weighted hyperintense and T2 - weighted hypointense signal involving the right putamen, globus pallidus and caudate.
Cranial magnetic resonance angiography showed stenosis on the cavernous segment of the right internal carotid artery
(ICA), left ICA and middle cerebral artery (MCA) junction, the A1 segment of the left anterior communicating artery and
proximal P2 segments of the bilateral posterior cerebral arteries. The patient was managed with a basal-bolus insulin
regimen to control the blood glucose and haloperidol to manage the extrapyramidal symptoms. Consequently, there was
complete resolution of the involuntary movements.
Conclusion
This case illustrates the importance of a systematic approach to movement disorders and early recognition of
this rare diabetes complication known as chorea hyperglycemia basal ganglia syndrome or diabetic striatopathy.
Movement Disorders
;
Diabetes Complications
2.Effect of miR-22 Targeting FMNL2 on Cell Migration and Apoptosis in Childhood Acute Myeloid Leukemia.
Jian LIU ; Jiao-Guo ZHANG ; Yin SUN ; Li QIU ; Yong YANG ; Rui YANG ; Ya JIN ; Chang-Mei LI ; Dao-Liang JIANG
Journal of Experimental Hematology 2023;31(6):1617-1623
OBJECTIVE:
To investigate the effect of miR-22 targeting formin-like protein 2 (FMNL2) on the migration and apoptosis of childhood acute myeloid leukemia (AML) cells.
METHOD:
Peripheral blood samples from 11 children with AML, 10 children with immune thrombocytopenia, human AML cell lines TF-1a, HL-60, THP-1 and human bone marrow stromal cells HS-5 were used as the research objects. UniCel DxH 800 automatic hematology analyzer detected platelet count, hemoglobin, and white blood cell count in peripheral blood samples, and RT-qPCR detected miR-22 expression in peripheral blood samples and AML cells. HL-60 cells were transfected with LipofectamineTM 2000 kit, the experiments were divided into seven groups: blank (no cells transfected), miR-NC, miR-22 mimics, si-NC, si-FMNL2 , miR-22 mimics+OE-NC and miR-22 mimics+OE-FMNL2 . RT-qPCR was used to detect the expression of miR-22 in each group. Transwell was used to detect cell migration. Flow cytometry was used to detect cell apoptosis. Dual-luciferase reporter gene detection experiments verified the targeting relationship between miR-22 and FMNL2 . Western blot was used to detect the expression of FMNL2 protein.
RESULTS:
Compared with the control group, the number of leukocytes in the peripheral blood of children with AML was significantly increased (P <0.001), while the concentration of hemoglobin and the number of platelets were significantly decreased P <0.001). The expression level of miR-22 in peripheral blood of children with AML was significantly lower than that in control group (P <0.001). Compared with HS-5 cells, the expression levels of miR-22 in TF-1a, HL-60, and THP-1 cells were significantly decreased (P <0.05), and in HL-60 cells was the lowest. Therefore, HL-60 cells were selected for subsequent experiments. Up-regulation of miR-22 or silencing of FMNL2 could reduce the number of migrating cells and increase apoptosis rate (P <0.05). MiR-22 targeted and negatively regulated the expression of FMNL2 . FMNL2 overexpression reversed the effects of up-regulated miR-22 on migration and apoptosis of HL-60 cells.
CONCLUSION
MiR-22 can inhibit the migration and promote apoptosis of HL-60 cells by down regulating the expression of FMNL2 .
Humans
;
Child
;
MicroRNAs/metabolism*
;
Leukemia, Myeloid, Acute/metabolism*
;
Cell Proliferation
;
Apoptosis
;
Myeloproliferative Disorders
;
Cell Movement
;
Hemoglobins
;
Cell Line, Tumor
;
Formins
3.Pseudo-orthostatic tremor as a manifestation of vitamin B12 deficiency: A case report
Journal of Medicine University of Santo Tomas 2023;7(1):1186-1189
Vitamin B12 deficiency has long been known to present with various neurological manifestations, but only rarely presents as movement disorders, especially in adults. We present the case of a 30-year-old vegan male presenting with tremors on both legs when standing which was relieved by vitamin B12 supplementation. To the best of our knowledge, this is the first documented case of slow orthostatic tremor or pseudo-orthostatic tremor caused by vitamin B12 deficiency.
Vitamin B 12 Deficiency
;
Vitamin B 12
;
Vegans
;
Movement Disorders
;
Tremor
;
Electromyography
4.RhoGEF Trio Regulates Radial Migration of Projection Neurons via Its Distinct Domains.
Chengwen WEI ; Mengwen SUN ; Xiaoxuan SUN ; Hu MENG ; Qiongwei LI ; Kai GAO ; Weihua YUE ; Lifang WANG ; Dai ZHANG ; Jun LI
Neuroscience Bulletin 2022;38(3):249-262
The radial migration of cortical pyramidal neurons (PNs) during corticogenesis is necessary for establishing a multilayered cerebral cortex. Neuronal migration defects are considered a critical etiology of neurodevelopmental disorders, including autism spectrum disorders (ASDs), schizophrenia, epilepsy, and intellectual disability (ID). TRIO is a high-risk candidate gene for ASDs and ID. However, its role in embryonic radial migration and the etiology of ASDs and ID are not fully understood. In this study, we found that the in vivo conditional knockout or in utero knockout of Trio in excitatory precursors in the neocortex caused aberrant polarity and halted the migration of late-born PNs. Further investigation of the underlying mechanism revealed that the interaction of the Trio N-terminal SH3 domain with Myosin X mediated the adherence of migrating neurons to radial glial fibers through regulating the membrane location of neuronal cadherin (N-cadherin). Also, independent or synergistic overexpression of RAC1 and RHOA showed different phenotypic recoveries of the abnormal neuronal migration by affecting the morphological transition and/or the glial fiber-dependent locomotion. Taken together, our findings clarify a novel mechanism of Trio in regulating N-cadherin cell surface expression via the interaction of Myosin X with its N-terminal SH3 domain. These results suggest the vital roles of the guanine nucleotide exchange factor 1 (GEF1) and GEF2 domains in regulating radial migration by activating their Rho GTPase effectors in both distinct and cooperative manners, which might be associated with the abnormal phenotypes in neurodevelopmental disorders.
Autism Spectrum Disorder/metabolism*
;
Cell Movement/genetics*
;
Humans
;
Interneurons/metabolism*
;
Neurodevelopmental Disorders/genetics*
;
Neurons/metabolism*
;
Rho Guanine Nucleotide Exchange Factors/genetics*
5.Botulinum toxin treatment practice recommendations for movement disorders clinics during the COVID-19 pandemic
Roland Dominic G. Jamora ; Jeryl Ritzi T. Yu ; Adrian I. Espiritu ; Ryan M. Llorin ; Rosemarie M. Tiongson ; Arlene R. Ng
Acta Medica Philippina 2022;56(5):94-99
Background:
Due to the Coronavirus disease 2019 (COVID-19) pandemic, non-emergency services like botulinum toxin A (BoNT) injections were temporarily discontinued.
Objective:
We aimed to create standard practices that optimize the management of patients needing BoNT injections while ensuring both patients' and healthcare professionals' safety.
Methods:
We evaluated published guidelines and best practices to determine their applicability for BoNT injection during this pandemic. We then devised a decision tree algorithm for use in our hospital.
Results:
A decision tree algorithm has been formulated based on patient evaluation and risk stratification, triaging, the urgency of the procedure, and proper precautions on personal protective wear as appropriate for the procedure’s risk stratification.
Conclusion
The algorithm is in place to ensure the safety of both the patient and healthcare professional. It can be adopted and revised by other centers to suit their clinic needs.
Movement Disorders
;
COVID-19
;
Botulinum Toxins
;
Therapeutics
;
Pandemics
6.The curious case of abdominal Dyskinesia: the Philippines’ first reported case
Theodore Joseph J. Ablaza ; Rhea Angela M. Salonga-Quimpo
Acta Medica Philippina 2022;56(17):61-64
This is a case of a 7-year-old Filipino female who presented with undulating movements of the abdomen that
occur only while awake, following the initiation of treatment for clinically diagnosed pulmonary tuberculosis.
Systemic physical examination was normal. The neurological examination was also unremarkable. The 2-hr video EEG showed no electroencephalographic changes or ictal pattern correlating with the abdominal dyskinesia, highly suggesting a movement disorder. Craniospinal Magnetic Resonance Imaging (MRI) with Gadolinium showed typical results. The patient responded to the trial of carbamazepine after three weeks of treatment with complete resolution of abdominal dyskinesia.
Neurology
;
Movement Disorders
7.Outcomes of Corrective Surgery in Children with Foot Deformities Using Quantitative Gait Analysis
Joana Francesca B. Vispera ; Carlo Emmanuel J. Sumpaico ; Ilian Dominiq D. Eusebio
Acta Medica Philippina 2021;55(3):322-327
OBJECTIVE: This study aimed to quantitatively define outcomes of corrective surgery in children with various foot deformities.
METHODS: We used a retrospective, nonrandomized design. All pediatric patients who underwent pre and post-operative gait analysis and corrective surgery were included. Outcome measures included quantitative gait analysis with temporospatial and kinematic parameters, the Gait Deviation Index, Gillette FAQ, and Hoffer’s criteria.
RESULTS:. Five patients with neurogenic and idiopathic deformities underwent corrective surgery at the Philippine General Hospital from 2015 to 2017. Comparison of gait pre and postoperatively show promising outcomes, with improvement in GDI and FAQ levels, despite some of the patients’ need for braces.
CONCLUSIONS: Quantitative gait analysis is a suitable method for evaluating surgical outcomes for foot deformity correction. It can be used in combination with functional outcome measures and clinical examination to give an overall picture of a patient’s walking ability.
Gait Analysis
;
Clubfoot
;
Gait
;
Movement Disorders
8.Full mouth rehabilitation using removable prosthesis of patient with unstable mandible movements: A case report
Dong Hwan SOHN ; Yang Jin YI ; Deuk Won JO
The Journal of Korean Academy of Prosthodontics 2020;58(1):35-41
Patients with collapsed occlusal support and unilateral chewing show parafunctional mandibular movements, which can be complicated in older patients. Gothic arch tracing and split cast technique are used to confirm the deviation between centric relation and anterior habitual bite in patient who has oral dyskinesia and collapsed occlusion. Temporary denture as occlusal stabilization appliance was provided for stable occlusion and reproducible mandibular movement. Definitive denture was fabricated by lingualized occlusion concept.
Centric Relation
;
Dentures
;
Humans
;
Mandible
;
Mastication
;
Mouth Rehabilitation
;
Mouth
;
Movement Disorders
;
Prostheses and Implants
9.Functional movement disorders in children and adolescents.
Chinese Journal of Contemporary Pediatrics 2020;22(5):523-527
Functional movement disorders (FMDs), also known as psychogenic movement disorders (PMDs), should be considered a biological-psychological-social disease like other functional neurological diseases. It is not merely a psychological or mental disease. The etiology of FMDs includes neurobiological changes, such as abnormal patterns of cerebral activation and abnormal connectivity between the limbic system and the motor networks. Inheritance and epigenetic machinery, such as DNA methylation and changes in grey and white matter morphology, may influence the development of FMDs. FMDs are not rare in the outpatient service of pediatrics and are one of the most challenging movement disorders due to complex and diversified clinical manifestations. Due to a lack of clinical knowledge and unified diagnostic criteria, it is difficult for pediatricians to make a correct diagnosis of FMDs, which may be easily confused with other diseases. Pediatricians should pay more attention to children with FMDs and establish a multidisciplinary team with psychiatrists, specialists in developmental behavior, and physiotherapists, so as to provide active management and treatment for such children.
Adolescent
;
Child
;
Humans
;
Movement Disorders
10.Evaluation of hematologic profile may be needed for patients treated with oxcarbazepine
Korean Journal of Pediatrics 2019;62(8):312-316
PURPOSE: The major side effects of treatment with oxcarbazepine (OXC) are skin rash and hyponatremia. Hematologic side effects are reported rarely. The aim of this study was to investigate the rate and types of the hematologic side effects of OXC. METHODS: The medical records of 184 patients diagnosed with epilepsy or movement disorder and on OXC monotherapy, at the Department of Pediatrics of Inje University Sanggye Paik Hospital from July 2001 to July 2018, were retrospectively reviewed. RESULTS: Of the 184 patients, 10 (5.4%) developed leukopenia in addition to pancytopenia and 2 (1.0%) developed pancytopenia. Leukopenia developed in 11 days to 14 years after OXC administration and was more frequent in males than in females (male vs. female, 9 vs. 1; Fisher exact test, P<0.05). Of the eight patients with leukopenia alone, 7 continued OXC treatment; 6 improved without intervention; 1 was lost to follow-up; and 1 received a reduced OXC dose, who improved after intervention. Pancytopenia developed within 2 months of initiation of OXC treatment. Both patients initially continued OXC. One improved within 1 month and continued treatment with OXC, but the other showed progression of the side effect, leading to the discontinuation of OXC and subsequent improvement within 1 month. There were no significant differences in the ages of the patients, OXC dose, and duration of OXC treatment between patients with and without these side effects of OXC (P >0.05, t-test). CONCLUSION: OXC-induced leukopenia is not rare and may result in pancytopenia. Patients being treated with OXC should be regularly monitored for abnormal complete blood count profiles.
Blood Cell Count
;
Epilepsy
;
Exanthema
;
Female
;
Humans
;
Hyponatremia
;
Leukopenia
;
Lost to Follow-Up
;
Male
;
Medical Records
;
Movement Disorders
;
Pancytopenia
;
Pediatrics
;
Retrospective Studies


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