Displaying publications 81 - 100 of 765 in total

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  1. Fulltext Neurocysticercosis
    Visuvanathan VV, Somawera N, Koh KC
    Malays Fam Physician, 2013;8(3):46-48.
    PMID: 25893060 MyJurnal
    A 19-year-old Chinese man presented with progressive ascending weakness of his left lower limb for 1 week. There was no loss of sensation. His other limbs were unaffected. He also complained of progressive, painless blurring of vision in his left eye for the past 1 month. He has an affinity for wild boar meat from local Chinese restaurants, which he has been consuming on a daily basis for the last 2 years. He denied any fever, headache, high risk behaviour for acquisition of human
    immunodeficiency virus (HIV) infection or recent travels. He had bronchial asthma in childhood, but the symptoms are minimal now and there was no recent acute exacerbations. Physical examination was unremarkable except for the left lower limb power of 3/5 and bilateral papilloedema on direct ophthalmoscopy. A Contrast-enhanced computed tomography (CECT) scan of the brain (Image 1) and Magnetic resonance imaging (MRI) of the brain (Images 2 and 3) were performed. The
    total leucocyte count was 9.2x109/L, C-reactive protein was 1.2 and erythrocyte sedimentation
    rate was 6 mm/h. Human immunodeficiency virus screening was negative, anti-toxoplasma antibodies were not detected and serological testing for anti-cysticercal antibodies via enzymelinked
    immunosorbent assay (ELISA) did not produce a positive yield. He was treated with oral albendazole for 28 days and corticosteroids, which led to rapid and total resolution of his neurological deficits and CT findings within 6 weeks.
    Matched MeSH terms: Magnetic Resonance Imaging
  2. MRI for the diagnosis of cardiac and liver iron overload in patients with transfusion-dependent thalassemia: An algorithm to guide clinical use when availability is limited
    Viprakasit V, Ajlan A, Aydinok Y, Al Ebadi BAA, Dewedar H, Ibrahim AS, et al.
    Am J Hematol, 2018 06;93(6):E135-E137.
    PMID: 29473204 DOI: 10.1002/ajh.25075
    Matched MeSH terms: Magnetic Resonance Imaging/methods*
  3. Fulltext Monophasic spindle cell myxoid synovial sarcoma of the hand: promising results with marginal resection
    Vijayan S, Mohammed AP, Kulkarni MS, Rao SK
    BMJ Case Rep, 2021 Jan 28;14(1).
    PMID: 33509874 DOI: 10.1136/bcr-2020-238366
    Synovial sarcomas are deep-seated, genetically distinct, malignant neoplasms seen in young adults, with a male preponderance. They have unusual clinical and pathological presentation and mimic many other sarcomas and carcinomas, making the diagnosis quite challenging. Although four variants are identified, occurrence in the hand is extremely rare and leads to significant morbidity. There is a high incidence of local recurrence and distant metastasis within the first 2 years. We report the case of an elderly woman with monophasic spindle cell synovial sarcoma who presented with painless swelling in her palm and underwent local excision of the neoplasm. At 2-year follow-up, she remains totally asymptomatic with normal function of the hand. We also attempt to give an overview about monophasic spindle cell synovial sarcoma with the differentials, which would help surgeons in prompt diagnosis and appropriate management.
    Matched MeSH terms: Magnetic Resonance Imaging
  4. An insight into the role of Artificial Intelligence in the early diagnosis of Alzheimer's disease
    Verma RK, Pandey M, Chawla P, Choudhury H, Mayuren J, Bhattamisra SK, et al.
    CNS Neurol Disord Drug Targets, 2021 May 11.
    PMID: 33982657 DOI: 10.2174/1871527320666210512014505
    BACKGROUND: The complication of Alzheimer's disease (AD) has made the development of its therapeutic a challenging task. Even after decades of research, we have achieved no more than a few years of symptomatic relief. The inability to diagnose the disease early is the foremost hurdle behind its treatment. Several studies have aimed to identify potential biomarkers that can be detected in body fluids (CSF, blood, urine, etc) or assessed by neuroimaging (i.e., PET and MRI). However, the clinical implementation of these biomarkers is incomplete as they cannot be validated.

    METHOD: To overcome the limitation, the use of artificial intelligence along with technical tools has been extensively investigated for AD diagnosis. For developing a promising artificial intelligence strategy that can diagnose AD early, it is critical to supervise neuropsychological outcomes and imaging-based readouts with a proper clinical review.

    CONCLUSION: Profound knowledge, a large data pool, and detailed investigations are required for the successful implementation of this tool. This review will enlighten various aspects of early diagnosis of AD using artificial intelligence.

    Matched MeSH terms: Magnetic Resonance Imaging
  5. A Brief Review on Breast Carcinoma and Deliberation on Current Non Invasive Imaging Techniques for Detection
    Vairavan R, Abdullah O, Retnasamy PB, Sauli Z, Shahimin MM, Retnasamy V
    Curr Med Imaging Rev, 2019;15(2):85-121.
    PMID: 31975658 DOI: 10.2174/1573405613666170912115617
    BACKGROUND: Breast carcinoma is a life threatening disease that accounts for 25.1% of all carcinoma among women worldwide. Early detection of the disease enhances the chance for survival.

    DISCUSSION: This paper presents comprehensive report on breast carcinoma disease and its modalities available for detection and diagnosis, as it delves into the screening and detection modalities with special focus placed on the non-invasive techniques and its recent advancement work done, as well as a proposal on a novel method for the application of early breast carcinoma detection.

    CONCLUSION: This paper aims to serve as a foundation guidance for the reader to attain bird's eye understanding on breast carcinoma disease and its current non-invasive modalities.

    Matched MeSH terms: Magnetic Resonance Imaging/methods; Diffusion Magnetic Resonance Imaging/methods
  6. Fulltext Gaussian smoothing and modified histogram normalization methods to improve neural-biomarker interpretations for dyslexia classification mechanism
    Usman OL, Muniyandi RC, Omar K, Mohamad M
    PLoS One, 2021;16(2):e0245579.
    PMID: 33630876 DOI: 10.1371/journal.pone.0245579
    Achieving biologically interpretable neural-biomarkers and features from neuroimaging datasets is a challenging task in an MRI-based dyslexia study. This challenge becomes more pronounced when the needed MRI datasets are collected from multiple heterogeneous sources with inconsistent scanner settings. This study presents a method of improving the biological interpretation of dyslexia's neural-biomarkers from MRI datasets sourced from publicly available open databases. The proposed system utilized a modified histogram normalization (MHN) method to improve dyslexia neural-biomarker interpretations by mapping the pixels' intensities of low-quality input neuroimages to range between the low-intensity region of interest (ROIlow) and high-intensity region of interest (ROIhigh) of the high-quality image. This was achieved after initial image smoothing using the Gaussian filter method with an isotropic kernel of size 4mm. The performance of the proposed smoothing and normalization methods was evaluated based on three image post-processing experiments: ROI segmentation, gray matter (GM) tissues volume estimations, and deep learning (DL) classifications using Computational Anatomy Toolbox (CAT12) and pre-trained models in a MATLAB working environment. The three experiments were preceded by some pre-processing tasks such as image resizing, labelling, patching, and non-rigid registration. Our results showed that the best smoothing was achieved at a scale value, σ = 1.25 with a 0.9% increment in the peak-signal-to-noise ratio (PSNR). Results from the three image post-processing experiments confirmed the efficacy of the proposed methods. Evidence emanating from our analysis showed that using the proposed MHN and Gaussian smoothing methods can improve comparability of image features and neural-biomarkers of dyslexia with a statistically significantly high disc similarity coefficient (DSC) index, low mean square error (MSE), and improved tissue volume estimations. After 10 repeated 10-fold cross-validation, the highest accuracy achieved by DL models is 94.7% at a 95% confidence interval (CI) level. Finally, our finding confirmed that the proposed MHN method significantly outperformed the normalization method of the state-of-the-art histogram matching.
    Matched MeSH terms: Magnetic Resonance Imaging/methods*
  7. Fulltext Graphene Oxide as a Nanocarrier for a Theranostics Delivery System of Protocatechuic Acid and Gadolinium/Gold Nanoparticles
    Usman MS, Hussein MZ, Kura AU, Fakurazi S, Masarudin MJ, Ahmad Saad FF
    Molecules, 2018 Feb 24;23(2).
    PMID: 29495251 DOI: 10.3390/molecules23020500
    We have synthesized a graphene oxide (GO)-based theranostic nanodelivery system (GOTS) for magnetic resonance imaging (MRI) using naturally occurring protocatechuic acid (PA) as an anticancer agent and gadolinium (III) nitrate hexahydrate (Gd) as the starting material for a contrast agent,. Gold nanoparticles (AuNPs) were subsequently used as second diagnostic agent. The GO nanosheets were first prepared from graphite via the improved Hummer's protocol. The conjugation of the GO and the PA was done via hydrogen bonding and π-π stacking interactions, followed by surface adsorption of the AuNPs through electrostatic interactions. GAGPA is the name given to the nanocomposite obtained from Gd and PA conjugation. However, after coating with AuNPs, the name was modified to GAGPAu. The physicochemical properties of the GAGPA and GAGPAu nanohybrids were studied using various characterization techniques. The results from the analyses confirmed the formation of the GOTS. The powder X-ray diffraction (PXRD) results showed the diffractive patterns for pure GO nanolayers, which changed after subsequent conjugation of the Gd and PA. The AuNPs patterns were also recorded after surface adsorption. Cytotoxicity and magnetic resonance imaging (MRI) contrast tests were also carried out on the developed GOTS. The GAGPAu was significantly cytotoxic to the human liver hepatocellular carcinoma cell line (HepG2) but nontoxic to the standard fibroblast cell line (3T3). The GAGPAu also appeared to possess higher T1 contrast compared to the pure Gd and water reference. The GOTS has good prospects of serving as future theranostic platform for cancer chemotherapy and diagnosis.
    Matched MeSH terms: Magnetic Resonance Imaging
  8. Fulltext A bimodal theranostic nanodelivery system based on [graphene oxide-chlorogenic acid-gadolinium/gold] nanoparticles
    Usman MS, Hussein MZ, Fakurazi S, Masarudin MJ, Ahmad Saad FF
    PLoS One, 2018;13(7):e0200760.
    PMID: 30044841 DOI: 10.1371/journal.pone.0200760
    We have synthesized a bimodal theranostic nanodelivery system (BIT) that is based on graphene oxide (GO) and composed of a natural chemotherapeutic agent, chlorogenic acid (CA) used as the anticancer agent, while gadolinium (Gd) and gold nanoparticles (AuNPs) were used as contrast agents for magnetic resonance imaging (MRI) modality. The CA and Gd guest agents were simultaneously loaded on the GO nanolayers using chemical interactions, such as hydrogen bonding and π-π non-covalent interactions to form GOGCA nanocomposite. Subsequently, the AuNPs were doped on the surface of the GOGCA by means of electrostatic interactions, which resulted in the BIT. The physico-chemical studies of the BIT affirmed its successful development. The X-ray diffractograms (XRD) collected of the various stages of BIT synthesis showed the successive development of the hybrid system, while 90% of the chlorogenic acid was released in phosphate buffer solution (PBS) at pH 4.8. This was further reaffirmed by the in vitro evaluations, which showed stunted HepG2 cancer cells growth against the above 90% cell growth in the control cells. A reverse case was recorded for the 3T3 normal cells. Further, the acquired T1-weighted image of the BIT doped samples obtained from the MRI indicated contrast enhancement in comparison with the plain Gd and water references. The abovementioned results portray our BIT as a promising future chemotherapeutic for anticancer treatment with diagnostic modalities.
    Matched MeSH terms: Magnetic Resonance Imaging
  9. Fulltext Impact of liver fat on the differential partitioning of hepatic triacylglycerol into VLDL subclasses on high and low sugar diets
    Umpleby AM, Shojaee-Moradie F, Fielding B, Li X, Marino A, Alsini N, et al.
    Clin Sci (Lond), 2017 Nov 01;131(21):2561-2573.
    PMID: 28923880 DOI: 10.1042/CS20171208
    Dietary sugars are linked to the development of non-alcoholic fatty liver disease (NAFLD) and dyslipidaemia, but it is unknown if NAFLD itself influences the effects of sugars on plasma lipoproteins. To study this further, men with NAFLD (n = 11) and low liver fat 'controls' (n = 14) were fed two iso-energetic diets, high or low in sugars (26% or 6% total energy) for 12 weeks, in a randomised, cross-over design. Fasting plasma lipid and lipoprotein kinetics were measured after each diet by stable isotope trace-labelling.There were significant differences in the production and catabolic rates of VLDL subclasses between men with NAFLD and controls, in response to the high and low sugar diets. Men with NAFLD had higher plasma concentrations of VLDL1-triacylglycerol (TAG) after the high (P<0.02) and low sugar (P<0.0002) diets, a lower VLDL1-TAG fractional catabolic rate after the high sugar diet (P<0.01), and a higher VLDL1-TAG production rate after the low sugar diet (P<0.01), relative to controls. An effect of the high sugar diet, was to channel hepatic TAG into a higher production of VLDL1-TAG (P<0.02) in the controls, but in contrast, a higher production of VLDL2-TAG (P<0.05) in NAFLD. These dietary effects on VLDL subclass kinetics could be explained, in part, by differences in the contribution of fatty acids from intra-hepatic stores, and de novo lipogenesis. The present study provides new evidence that liver fat accumulation leads to a differential partitioning of hepatic TAG into large and small VLDL subclasses, in response to high and low intakes of sugars.
    Matched MeSH terms: Magnetic Resonance Imaging
  10. Fulltext Idiopathic orbital inflammatory pseudotumour mimicking optic nerve sheath meningioma- a case report
    Umi Kalthum, M.N., Amin, A., Syazarina, S.O., Faridah, H.A.
    Journal of Surgical Academia, 2013;3(1):25-27.
    MyJurnal
    A 42-year-old Malay gentleman presented with progressive painless blurring of vision on his left eye associated with ocular ache, redness and increasing proptosis. Examination revealed presence of relative afferent papillary defect with visual acuity of counting finger, and 6/6 on the right eye. Extraocular muscle movement of the left eye was restricted to ten percent in all directions. Computed tomography (CT) and magnetic resonance imaging (MRI) showed enhancing mass occupying the left orbital apex. Diagnosis of optic nerve sheath meningioma was made, and patient subsequently went for radiotherapy. His symptoms subsided completely, until he presented with similar visual complains, and fullness of the upper lid two years later. A repeated MRI showed enlargement of superior and lateral recti muscles with extension to lacrimal gland region. Biopsy of the lacrimal gland revealed inflammatory cells consistent of inflammatory pseudotumor. High dose systemic steroid was instituted, followed by slow tapering of oral steroid. His symptoms completely resolved, and latest visual acuity was 6/9, with no recurrence, to date.
    Matched MeSH terms: Magnetic Resonance Imaging
  11. Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy
    Tsuchida N, Nakashima M, Miyauchi A, Yoshitomi S, Kimizu T, Ganesan V, et al.
    Clin Genet, 2018 02;93(2):266-274.
    PMID: 28556953 DOI: 10.1111/cge.13061
    The seizure threshold 2 (SZT2) gene encodes a large, highly conserved protein that is associated with epileptogenesis. In mice, Szt2 is abundantly expressed in the central nervous system. Recently, biallelic SZT2 mutations were found in 7 patients (from 5 families) presenting with epileptic encephalopathy with dysmorphic features and/or non-syndromic intellectual disabilities. In this study, we identified by whole-exome sequencing compound heterozygous SZT2 mutations in 3 patients with early-onset epileptic encephalopathies. Six novel SZT2 mutations were found, including 3 truncating, 1 splice site and 2 missense mutations. The splice-site mutation resulted in skipping of exon 20 and was associated with a premature stop codon. All individuals presented with seizures, severe developmental delay and intellectual disabilities with high variability. Brain MRIs revealed a characteristic thick and short corpus callosum or a persistent cavum septum pellucidum in each of the 2 cases. Interestingly, in the third case, born to consanguineous parents, had unexpected compound heterozygous missense mutations. She showed microcephaly despite the other case and previous ones presenting with macrocephaly, suggesting that SZT2 mutations might affect head size.
    Matched MeSH terms: Magnetic Resonance Imaging
  12. Fulltext Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly
    Tsai MH, Muir AM, Wang WJ, Kang YN, Yang KC, Chao NH, et al.
    Neuron, 2020 Apr 22;106(2):237-245.e8.
    PMID: 32097630 DOI: 10.1016/j.neuron.2020.01.027
    Lissencephaly (LIS), denoting a "smooth brain," is characterized by the absence of normal cerebral convolutions with abnormalities of cortical thickness. Pathogenic variants in over 20 genes are associated with LIS. The majority of posterior predominant LIS is caused by pathogenic variants in LIS1 (also known as PAFAH1B1), although a significant fraction remains without a known genetic etiology. We now implicate CEP85L as an important cause of posterior predominant LIS, identifying 13 individuals with rare, heterozygous CEP85L variants, including 2 families with autosomal dominant inheritance. We show that CEP85L is a centrosome protein localizing to the pericentriolar material, and knockdown of Cep85l causes a neuronal migration defect in mice. LIS1 also localizes to the centrosome, suggesting that this organelle is key to the mechanism of posterior predominant LIS.
    Matched MeSH terms: Magnetic Resonance Imaging
  13. Fulltext Anomalous pancreatico-biliary junction--a non-dilated biliary system and gallbladder carcinoma
    Toufeeq Khan TF, Hayat FZ, Muniandy S
    Singapore Med J, 1998 Jan;39(1):25-6.
    PMID: 9557100
    Anomalous pancreatico-biliary junction (APBJ) is commonly associated with cystic dilatation of the bile ducts but recently, several cases without the cystic dilatation have been reported. We treated a young female patient with intractable back and epigastric pain of three months duration. The spine was normal on magnetic resonance imaging (MRI), but several lymph nodes were seen around the coeliac axis. An APBJ, a non-cystic biliary system, non-filling of the gallbladder and an irregular right margin of the bile duct were evident on endoscopic retrograde pancreatography (ERCP), which was highly suggestive of gallbladder (GB) malignancy. At surgery, the GB was hard with local infiltration of the bile duct. Numerous large para-aortic and supraduodenal lymph nodes were present and only a biopsy was possible. Details of the case are presented and the growing etiological importance of an APBJ, especially without cystic biliary dilatation in gallbladder carcinogenesis is discussed.
    Matched MeSH terms: Magnetic Resonance Imaging
  14. Ultrasonic plaque echolucency and emboli signals predict stroke in asymptomatic carotid stenosis
    Topakian R, King A, Kwon SU, Schaafsma A, Shipley M, Markus HS, et al.
    Neurology, 2011 Aug 23;77(8):751-8.
    PMID: 21849657 DOI: 10.1212/WNL.0b013e31822b00a6
    Better methods are required to identify patients with asymptomatic carotid stenosis (ACS) at risk of future stroke. Two potential markers of high risk are echolucent plaque morphology on carotid ultrasound and embolic signals (ES) in the ipsilateral middle cerebral artery on transcranial Doppler ultrasound (TCD). We explored the predictive value of a score based on these 2 measures in the prospective, observational, international multicenter Asymptomatic Carotid Emboli Study.
    Matched MeSH terms: Magnetic Resonance Imaging
  15. Amyloid imaging using fluorine-19 magnetic resonance imaging ((19)F-MRI)
    Tooyama I, Yanagisawa D, Taguchi H, Kato T, Hirao K, Shirai N, et al.
    Ageing Res Rev, 2016 09;30:85-94.
    PMID: 26772439 DOI: 10.1016/j.arr.2015.12.008
    The formation of senile plaques followed by the deposition of amyloid-β is the earliest pathological change in Alzheimer's disease. Thus, the detection of senile plaques remains the most important early diagnostic indicator of Alzheimer's disease. Amyloid imaging is a noninvasive technique for visualizing senile plaques in the brains of Alzheimer's patients using positron emission tomography (PET) or magnetic resonance imaging (MRI). Because fluorine-19 ((19)F) displays an intense nuclear magnetic resonance signal and is almost non-existent in the body, targets are detected with a higher signal-to-noise ratio using appropriate fluorinated contrast agents. The recent introduction of high-field MRI allows us to detect amyloid depositions in the brain of living mouse using (19)F-MRI. So far, at least three probes have been reported to detect amyloid deposition in the brain of transgenic mouse models of Alzheimer's disease; (E,E)-1-fluoro-2,5-bis-(3-hydroxycarbonyl-4-hydroxy)styrylbenzene (FSB), 1,7-bis(4'-hydroxy-3'-trifluoromethoxyphenyl)-4-methoxycarbonylethyl-1,6-heptadiene3,5-dione (FMeC1, Shiga-Y5) and 6-(3',6',9',15',18',21'-heptaoxa-23',23',23'-trifluorotricosanyloxy)-2-(4'-dimethylaminostyryl)benzoxazole (XP7, Shiga-X22). This review presents the recent advances in amyloid imaging using (19)F-MRI, including our own studies.
    Matched MeSH terms: Magnetic Resonance Imaging/methods*
  16. Fulltext Lessons of the month: Not just morning sickness
    Tong CV
    Clin Med (Lond), 2020 Sep;20(5):e204-e205.
    PMID: 32934066 DOI: 10.7861/clinmed.2020-0151
    A 34-year-old woman (gravida 4; para 3) at 17 weeks of pregnancy presented with abnormal behaviour for 3 weeks associated with difficulties in walking. She had been admitted 2 months prior with hyperemesis gravidarum and was also diagnosed with thyrotoxicosis. Vomiting and poor oral intake persisted after discharge. She was euthyroid otherwise. Clinical examination revealed a dehydrated and confused patient. She had nystagmus and ataxic gate. Magnetic resonance imaging of the brain showed symmetrical signal changes of posteromedial part of thalamus. A diagnosis of Wernicke's encephalopathy (WE) was made and intravenous thiamine was given leading to gradual improvement of symptoms. Her thyroid function test normalised without any treatment. WE can occur in severe hyperemesis gravidarum. Prompt recognition of WE and replacement with thiamine is important to prevent neurological sequelae and mortality. Gestational transient thyrotoxicosis, which is self-limiting, is more prominent in patients with hyperemesis gravidarum and requires only symptomatic treatment.
    Matched MeSH terms: Magnetic Resonance Imaging
  17. Symptomatic spinal epidural lipomatosis after a single local epidural steroid injection
    Tok CH, Kaur S, Gangi A
    Cardiovasc Intervent Radiol, 2011 Feb;34 Suppl 2:S250-5.
    PMID: 20859631 DOI: 10.1007/s00270-010-9982-z
    Spinal epidural lipomatosis is a rare disorder that can manifest with progressive neurological deficits. It is characterized by abnormal accumulation of unencapsulated epidural fat commonly associated with the administration of exogenous steroids associated with a variety of systemic diseases, endocrinopathies, and Cushing syndrome (Fogel et al. Spine J 5:202-211, 2005). Occasionally, spinal epidural lipomatosis may occur in patients not exposed to steroids or in patients with endocrinopathies, primarily in obese individuals (Fogel et al. Spine J 5:202-211, 2005). However, spinal lumbar epidural lipomatosis resulting from local steroid injection has rarely been reported. We report the case of a 45-year-old diabetic man with claudication that was probably due to symptomatic lumbar spinal lipomatosis resulting from a single local epidural steroid injection.
    Matched MeSH terms: Magnetic Resonance Imaging
  18. SPTAN1 encephalopathy: distinct phenotypes and genotypes
    Tohyama J, Nakashima M, Nabatame S, Gaik-Siew C, Miyata R, Rener-Primec Z, et al.
    J Hum Genet, 2015 Apr;60(4):167-73.
    PMID: 25631096 DOI: 10.1038/jhg.2015.5
    Recent progress in genetic analysis reveals that a significant proportion of cryptogenic epileptic encephalopathies are single-gene disorders. Mutations in numerous genes for early-onset epileptic encephalopathies have been rapidly identified, including in SPTAN1, which encodes α-II spectrin. The aim of this review is to delineate SPTAN1 encephalopathy as a distinct clinical syndrome. To date, a total of seven epileptic patients with four different in-frame SPTAN1 mutations have been identified. The major clinical features of SPTAN1 mutations include epileptic encephalopathy with hypsarrhythmia, no visual attention, acquired microcephaly, spastic quadriplegia and severe intellectual disability. Brainstem and cerebellar atrophy and cerebral hypomyelination, as observed by magnetic resonance imaging, are specific hallmarks of this condition. A milder variant is characterized by generalized epilepsy with pontocerebellar atrophy. Only in-frame SPTAN1 mutations in the last two spectrin repeats in the C-terminal region lead to dominant negative effects and these specific phenotypes. The last two spectrin repeats are required for α/β spectrin heterodimer associations and the mutations can alter heterodimer formation between the two spectrins. From these data we suggest that SPTAN1 encephalopathy is a distinct clinical syndrome owing to specific SPTAN1 mutations. It is important that this syndrome is recognized by pediatric neurologists to enable proper diagnostic work-up for patients.
    Matched MeSH terms: Magnetic Resonance Imaging
  19. Fulltext Genotypic and phenotypic variation of CADASIL among Chinese, Indians and Rungus in Malaysia
    Toh, Tsun-Haw, Lim, Kheng-Seang, Ng, Ching-Ching, Imran Idris, Sherrini Bazir Ahmad, Lim, Thien-Thien, et al.
    Neuroscience Research Notes, 2019;2(3):1-11.
    MyJurnal
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary disease of small cerebral arteries. This case series aims to describe the mutations in NOTCH3and their phenotypes in Malaysia. We includedpatients who were genetically confirmed to have CADASIL, diagnosed at the University of Malaya Medical Centre, Malaysia. Family members who fulfilled clinical or imaging criteria, and patients from two previous published Malaysian families were also included. Six families (eleven cases) were included in this series. Genetic testing revealed NOTCH3 mutations in c.328C>T (p.Arg110Cys, R110C), c.553T>G (p.Cys185Gly, C185G), c.1630C>T (p.Arg544Cys, R544C) and c.160C>T (p.Arg54Cys, R54C). Two out of four Chinese families had R544C mutation in exon 11, with a later age of onset, absence of migraine and lack of anterior temporal pole involvement on MRI. One family with mixed Indian and Chinese ancestry had a mutation in exon 3 with R110C and another Indian family exon 4 with C185G mutation. This case series highlights the genotypic and phenotypic variability of CADASIL in a multi-ethniccountry. The finding of p.Arg544Cys mutation among the older Chinese families, similar to those reported in Jeju Island and Taiwan, suggest the need to screen the older Chinese stroke patients with typical MRI changes.
    Matched MeSH terms: Magnetic Resonance Imaging
  20. Fulltext Vertebrae Destruction with Cauda Equina Syndrome Secondary to Spinal Gouty Arthritis: A Case Report
    Thuraikumar K, Wan KL, Ong KL, Lim SW
    Malays Orthop J, 2020 Jul;14(2):141-144.
    PMID: 32983391 DOI: 10.5704/MOJ.2007.024
    Gouty arthritis commonly affects peripheral joints and is associated with hyperuricaemia. Spinal manifestations of gouty arthritis are not common, and majority of published articles worldwide were case reports. This is a case report of spinal gouty arthritis that presented with spinal vertebrae destruction and cauda equina syndrome. The magnetic resonance imaging (MRI) showed destruction of L5/S1end plates with cystic collection mimicking infective changes. The tissue histological examination confirmed presence of urate crystal needles that displayed negative double refraction on light microscopy. Spinal gouty arthritis is part of the differential diagnoses in gouty arthritis patients.
    Matched MeSH terms: Magnetic Resonance Imaging
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