Displaying publications 81 - 100 of 1521 in total

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  1. J Sykepleien, 1994 Feb 15;82(3):36.
    PMID: 7946737
    Matched MeSH terms: Acquired Immunodeficiency Syndrome/prevention & control*; Acquired Immunodeficiency Syndrome/transmission
  2. Than M, Myat KA, Khadijah S, Jamaludin N, Isa MN
    Anthropol Anz, 1998 Dec;56(4):351-65.
    PMID: 10027045
    There has been no recent report on the dermatoglyphics of the Malays (normal population as well as patients with Down's syndrome). A study on the frequencies of the dermal patterns (dermatoglyphics) of the digits, palms and hallucal areas was done therefore in 40 Malay patients with Down's syndrome and 200 unrelated normal controls. Only the patients with the standard 21 trisomy karyotype were included in the study. Comparison was made with the published data on studies done in various racial groups. Significant differences of the dermal patterns were found not only between the controls but also among patients of different races.
    Matched MeSH terms: Down Syndrome/ethnology; Down Syndrome/genetics*
  3. Rokiah I, Ng KP, Soo-Hoo TS
    Med J Malaysia, 1995 Mar;50(1):101-4.
    PMID: 7752960
    We report a 39-year-old male who presented with tuberculous meningitis and was found also to be HIV-infected. In the course of his illness, he developed multiple opportunistic infections such as herpes genitalis, oesophageal candidiasis, CMV retinitis and finally succumbed to Penicillium marneffei septicaemia.
    Matched MeSH terms: Acquired Immunodeficiency Syndrome/complications*; Acquired Immunodeficiency Syndrome/epidemiology
  4. Lim CT, Koh MT
    Australas Radiol, 1992 May;36(2):158-9.
    PMID: 1520180
    Cerebro-costo-mandibular syndrome (CCM) is a very rare entity with oro-facial features closely resembling Pierre-Robin anomaly (1,2). We describe a patient with typical features: severe micrognathia, glossoptosis, central cleft soft palate and multiple posterior rib-gap defects seen on chest radiograph. Respiratory distress which was evident soon after birth was relieved by an oro-pharyngeal airway. He suffered from a cardiorespiratory arrest and succumbed, presumably secondary to aspiration of milk feeds, before a tracheostomy could be performed.
    Matched MeSH terms: Pierre Robin Syndrome/epidemiology*; Pierre Robin Syndrome/radiography
  5. Omar A
    Med J Malaysia, 1985 Mar;40(1):20-3.
    PMID: 3831728
    19 cases of Kawasaki Syndrome were seen at the University Hospital, Kuala Lumpur between June 1979 and August 1984. The clinical features of the cases are reviewed in this paper. Kawasaki Syndrome is not an uncommon disease in Malaysia and clinicians should be aware of its presentation.
    Matched MeSH terms: Mucocutaneous Lymph Node Syndrome/diagnosis; Mucocutaneous Lymph Node Syndrome/epidemiology*
  6. Ng WH, Kew ST
    Med J Malaysia, 1980 Sep;35(1):41-5.
    PMID: 7253998
    Electrocardiographic features of the Woljf-Parkinson-White syndrome may be seen in normal individuals and in those with congenital or acquired heart disease. Predisposition to tachyarrhythmias and its misinterpretation are common. In this report a case of Wolff-Parkinson-White syndrome in a 25 year old Malay male who presented with cardiac arrhythmias is described. Echocardiographic findings and the role of echocardiography are discussed.
    Matched MeSH terms: Wolff-Parkinson-White Syndrome/diagnosis*; Wolff-Parkinson-White Syndrome/physiopathology
  7. Gururaj AK, Ainon S
    J Singapore Paediatr Soc, 1990;32(1-2):50-2.
    PMID: 2259197
    It is well known that episodic loss of consciousness and convulsions may have a cardiac rather than a cerebral origin (1). We report a case where these episodes were caused by recurrent ventricular tachycardia/ventricular fibrillation secondary to idiopathic long QT syndrome which was effectively treated with amiodarone.
    Matched MeSH terms: Long QT Syndrome/complications; Long QT Syndrome/drug therapy*
  8. Elkarhat Z, Belkady B, Charoute H, Zarouf L, Razoki L, Aboulfaraj J, et al.
    Am J Med Genet A, 2019 08;179(8):1516-1524.
    PMID: 31207162 DOI: 10.1002/ajmg.a.61257
    The aim of the present study was to determine the frequency and nature of chromosomal abnormalities involved in patients with the clinical spectrum of ambiguous genitalia (AG), amenorrhea, and Turner phenotype, in order to compare them with those reported elsewhere. The study was conducted in the Cytogenetic Department of Pasteur Institute of Morocco, and it reports on the patients who were recruited between 1996 and 2016. Cytogenetic analysis was performed according to the standard method. Among 1,415 patients, chromosomal abnormalities were identified in 7.13% (48/673) of patients with AG, 17.39% (28/161) of patients with primary amenorrhea (PA), 4% (1/25) of patients with secondary amenorrhea, and 23.20% (129/556) of patients with Turner phenotype. However, Turner syndrome was diagnosed in 0.89% (6/673) of patients with AG, 10.56% (17/161) of patients with PA, and 19.78% (110/556) of patients with Turner phenotype. In addition, Klinefelter syndrome and mixed gonadal dysgenesis were confirmed in 2.97% and 1.93% of patients, respectively, with AG, while, chimerism, trisomy 8, and trisomy 13 were confirmed only in 0.15% each. Trisomy 21 was confirmed in patients with AG and Turner phenotype (0.15% and 0.36%, respectively). Moreover, 5.60% (9/161) of patients with PA have been diagnosed as having sex reversal. Thus, the frequency of chromosomal abnormalities observed in Moroccan patients with PA is comparable to that reported in Tunisia, Turkey, Iran, and Hong Kong. However, the frequency is significantly less than that identified in India, Malaysia, Italy, and Romania.
    Matched MeSH terms: Down Syndrome/genetics; Down Syndrome/epidemiology; Down Syndrome/pathology; Klinefelter Syndrome/genetics; Klinefelter Syndrome/epidemiology; Klinefelter Syndrome/pathology; Turner Syndrome/genetics*; Turner Syndrome/epidemiology; Turner Syndrome/pathology
  9. Mugilan SR, Joseph JP
    Med J Malaysia, 2018 12;73(6):433-435.
    PMID: 30647225
    The diagnosis of Creutzfeldt-Jakob disease (CJD) can be challenging as findings are non-specific and there is low awareness of the disease. We present a case of an 83-yearold man with a two months history of rapidly progressive dementia. After a series of extensive diagnostic examinations, he was diagnosed with probable sporadic CJD with key findings of rapidly progressive dementia, myoclonus, pyramidal signs, abnormal hyperintensity signals on diffusion-weighted magnetic resonance imaging (DW-MRI) and typical electroencephalograph (EEG). His symptoms progressively worsened and he died four months after the onset of symptoms.
    Matched MeSH terms: Creutzfeldt-Jakob Syndrome/diagnosis; Creutzfeldt-Jakob Syndrome/epidemiology*
  10. Shafiee MN, Chapman C, Barrett D, Abu J, Atiomo W
    Gynecol Oncol, 2013 Nov;131(2):489-92.
    PMID: 23822891 DOI: 10.1016/j.ygyno.2013.06.032
    Endometrial cancer (EC) is the commonest gynaecological cancer in North American and European women. Even though it has been shown that women with polycystic ovary syndrome (PCOS) have a three-fold increase in the risk of developing EC compared to women without PCOS, the precise molecular mechanisms which increase EC risk in women with PCOS remain unclear. Clinical strategies to prevent EC in PCOS are therefore not well researched and understood. Although raised estrogen levels, hyperinsulinaemia and, reduced apoptosis have been suggested as potential mechanisms, there is a lack of clarity about how these factors and other factors may interact to increase EC risk in PCOS. This article reviews the literature, on the potential molecular links between PCOS and EC but argues for a paradigm shift, to a systems biology-based approach in future research into the molecular links between PCOS and EC. The potential challenges of a systems biology-based approach are outlined but not considered insurmountable.
    Matched MeSH terms: Polycystic Ovary Syndrome/genetics*; Polycystic Ovary Syndrome/metabolism*
  11. Chong VF, Pathmanathan R
    Ann Acad Med Singap, 1993 Sep;22(5):807-10.
    PMID: 8267366
    Behçet's syndrome is a rare multisystem disorder. The occurrence in families although well recognised is uncommon. The mode of inheritance, however, has not been elucidated. Sixty-one cases of familial disease have been documented to date. There was only one previous report on familial Behçet's syndrome with gastrointestinal involvement. This paper reports two cases of Behçet's syndrome with gastrointestinal involvement in a Malaysian woman of Chinese ethnic origin and her child. The mother satisfied three major criteria (oral ulcers, genital ulcers and erythema nodosum) and one minor criterion (gastrointestinal involvement). Her son satisfied two major criteria (oral and genital ulcers) and three minor criteria (intestinal involvement, central nervous manifestation and a positive family history). The radiological and pathological features of the gastrointestinal lesions in both patients resembled those of Crohn's disease. The literature on Behçet's syndrome is reviewed.
    Matched MeSH terms: Behcet Syndrome/complications; Behcet Syndrome/genetics*
  12. Afiqah-Aleng N, Altaf-Ul-Amin M, Kanaya S, Mohamed-Hussein ZA
    Reprod Biomed Online, 2020 Feb;40(2):319-330.
    PMID: 32001161 DOI: 10.1016/j.rbmo.2019.11.012
    RESEARCH QUESTION: Polycystic ovary syndrome (PCOS) is a complex endocrine disorder with diverse clinical implications, such as infertility, metabolic disorders, cardiovascular diseases and psychological problems among others. The heterogeneity of conditions found in PCOS contribute to its various phenotypes, leading to difficulties in identifying proteins involved in this abnormality. Several studies, however, have shown the feasibility in identifying molecular evidence underlying other diseases using graph cluster analysis. Therefore, is it possible to identify proteins and pathways related to PCOS using the same approach?

    METHODS: Known PCOS-related proteins (PCOSrp) from PCOSBase and DisGeNET were integrated with protein-protein interactions (PPI) information from Human Integrated Protein-Protein Interaction reference to construct a PCOS PPI network. The network was clustered with DPClusO algorithm to generate clusters, which were evaluated using Fisher's exact test. Pathway enrichment analysis using gProfileR was conducted to identify significant pathways.

    RESULTS: The statistical significance of the identified clusters has successfully predicted 138 novel PCOSrp with 61.5% reliability and, based on Cronbach's alpha, this prediction is acceptable. Androgen signalling pathway and leptin signalling pathway were among the significant PCOS-related pathways corroborating the information obtained from the clinical observation, where androgen signalling pathway is responsible in producing male hormones in women with PCOS, whereas leptin signalling pathway is involved in insulin sensitivity.

    CONCLUSIONS: These results show that graph cluster analysis can provide additional insight into the pathobiology of PCOS, as the pathways identified as statistically significant correspond to earlier biological studies. Therefore, integrative analysis can reveal unknown mechanisms, which may enable the development of accurate diagnosis and effective treatment in PCOS.

    Matched MeSH terms: Polycystic Ovary Syndrome/genetics; Polycystic Ovary Syndrome/metabolism*
  13. Loh HH, Yee A, Loh HS, Kanagasundram S, Francis B, Lim LL
    Hormones (Athens), 2020 Sep;19(3):413-423.
    PMID: 32462512 DOI: 10.1007/s42000-020-00210-0
    PURPOSE: Polycystic ovarian syndrome (PCOS) is a common disorder characterized by clinical or biochemical hyperandrogenism and ovulary dysfunction. Female sexual dysfunction (FSD) adversely affects quality of life and interpersonal relationships. We aimed to compare the prevalence of FSD in women with and without PCOS.

    METHODS: We pooled data from 28 observational studies involving 6256 women. Apart from the total prevalence of FSD, subgroup analyses based on different PCOS diagnostic criteria and obesity status (body mass index [BMI] ≥ 25 kg/m2) were performed. The differences in total and subscale scores of the Female Sexual Function Index (FSFI) among women with and without PCOS were also compared.

    RESULTS: Women with PCOS were younger (mean ± SD 28.56 ± 3.0 vs 31.5 ± 3.2 years, p 

    Matched MeSH terms: Polycystic Ovary Syndrome/complications; Polycystic Ovary Syndrome/epidemiology*
  14. Singh A, Priyadarshi K, Raj T, Banerjee T
    Trop Biomed, 2019 Dec 01;36(4):987-992.
    PMID: 33597468
    Blastocystis species (spp.) is an emerging pathogen. There are several unsolved issues linked to this parasite ranging from its nomenclature, commensal status, standardization of laboratory diagnostic methods, genotypes and treatment. Recently, there has been an increase in reports of Blastocystis spp. from symptomatic cases which provide enough evidence of its pathogenic potential. A range of signs and symptoms, from gastro-intestinal to cutaneous manifestations have been attributed to Blastocystis infection. Few reports have established an association between intestinal infection with Blastocystis spp. and skin manifestations in form of urticaria, palmoplantar pruritus and allergy with complete resolution of cutaneous lesions with eradication of the parasite. In this report, we describe a case of Steven Johnson's syndrome (SJS) in a 6 years old girl along with infection with Blastocystis spp. marked by diarrhea and abdominal pain. Stool examination revealed the presence of all forms of the parasite with subsequent decrease in parasite burden and diarrhea over a period of time. Interestingly, the clearance of Blastocystis spp. from stool was followed by recovery from skin lesions and other symptoms. In this case, the course of SJS was clearly associated with Blastocystis infection. Though skin manifestation with Blastocystis infection has been previously reported, this is the first report of its association with SJS. This report indicates newer insights of the parasite that are less well studied.
    Matched MeSH terms: Stevens-Johnson Syndrome/diagnosis*; Stevens-Johnson Syndrome/parasitology
  15. Edawati DE, Abigail J, Mardiana K, Ming-Cheng C, Harris NS
    Med J Malaysia, 2017 04;72(2):133-134.
    PMID: 28473681 MyJurnal
    This case report discusses dumping syndrome in the postbariatric mother. Diagnostically a challenge, the symptoms of postprandial hypoglycaemia mimic common early gestation complaints and may go undiagnosed, thus requiring a high index of suspicion. As weight-loss surgery gains traction, it is pertinent to note at booking and followups. The pregnancy is at-risk and multidisciplinary team management is central. The mainstay of management remains diet modification. There have been case reports of successful medical treatment of dumping syndrome in pregnancy with good maternal and fetal outcomes. However, more data is needed regarding the usage of these medical treatments in pregnancy.
    Matched MeSH terms: Dumping Syndrome/complications*; Dumping Syndrome/etiology
  16. Rajendran T, Ramalinggam G, Kamaru Ambu V
    BMJ Case Rep, 2017 Aug 01;2017.
    PMID: 28765181 DOI: 10.1136/bcr-2017-219726
    A bilobed posterior tongue is a rare malformation with few reported cases in the literature. This anomaly has not been demonstrated in patients with Goldenhar syndrome. We report a case of a 5-month-old child with the classic signs of Goldenhar syndrome and laryngomalacia with an incidental finding of a bilobed posterior tongue. Careful assessment and monitoring are crucial, especially in syndromic babies.
    Matched MeSH terms: Goldenhar Syndrome/diagnosis*; Goldenhar Syndrome/surgery
  17. Kotyla PJ, Islam MA
    Int J Mol Sci, 2020 Mar 18;21(6).
    PMID: 32197340 DOI: 10.3390/ijms21062076
    MicroRNAs (miRNAs) are single-stranded, endogenous RNA molecules that play a significant role in the regulation of gene expression as well as cell development, differentiation, and function. Recent data suggest that these small molecules are responsible for the regulation of immune responses. Therefore, they may act as potent modulators of the immune system and play an important role in the development of several autoimmune diseases. Antiphospholipid syndrome (APS) is an autoimmune systemic disease characterized by venous and/or arterial thromboses and/or recurrent fetal losses in the presence of antiphospholipid antibodies (aPLs). Several lines of evidence suggest that like other autoimmune disorders, miRNAs are deeply involved in the pathogenesis of APS, interacting with the function of innate and adaptive immune responses. In this review, we characterize miRNAs in the light of having a functional role in the immune system and autoimmune responses focusing on APS. In addition, we also discuss miRNAs as potential biomarkers and target molecules in treating APS.
    Matched MeSH terms: Antiphospholipid Syndrome/immunology*; Antiphospholipid Syndrome/pathology
  18. Verboon C, Doets AY, Galassi G, Davidson A, Waheed W, Péréon Y, et al.
    Neurology, 2019 07 02;93(1):e59-e76.
    PMID: 31175208 DOI: 10.1212/WNL.0000000000007719
    OBJECTIVE: To define the current treatment practice of Guillain-Barré syndrome (GBS).

    METHODS: The study was based on prospective observational data from the first 1,300 patients included in the International GBS Outcome Study. We described the treatment practice of GBS in general, and for (1) severe forms (unable to walk independently), (2) no recovery after initial treatment, (3) treatment-related fluctuations, (4) mild forms (able to walk independently), and (5) variant forms including Miller Fisher syndrome, taking patient characteristics and hospital type into account.

    RESULTS: We excluded 88 (7%) patients because of missing data, protocol violation, or alternative diagnosis. Patients from Bangladesh (n = 189, 15%) were described separately because 83% were not treated. IV immunoglobulin (IVIg), plasma exchange (PE), or other immunotherapy was provided in 941 (92%) of the remaining 1,023 patients, including patients with severe GBS (724/743, 97%), mild GBS (126/168, 75%), Miller Fisher syndrome (53/70, 76%), and other variants (33/40, 83%). Of 235 (32%) patients who did not improve after their initial treatment, 82 (35%) received a second immune modulatory treatment. A treatment-related fluctuation was observed in 53 (5%) of 1,023 patients, of whom 36 (68%) were re-treated with IVIg or PE.

    CONCLUSIONS: In current practice, patients with mild and variant forms of GBS, or with treatment-related fluctuations and treatment failures, are frequently treated, even in absence of trial data to support this choice. The variability in treatment practice can be explained in part by the lack of evidence and guidelines for effective treatment in these situations.

    Matched MeSH terms: Guillain-Barre Syndrome/epidemiology; Guillain-Barre Syndrome/therapy*
  19. Agbolade O, Nazri A, Yaakob R, Ghani AA, Cheah YK
    Sci Rep, 2021 10 21;11(1):20767.
    PMID: 34675349 DOI: 10.1038/s41598-021-99944-z
    Angelman syndrome (AS) is one of the common genetic disorders that could emerge either from a 15q11-q13 deletion or paternal uniparental disomy (UPD) or imprinting or UBE3A mutations. AS comes with various behavioral and phenotypic variability, but the acquisition of subjects for experiment and automating the landmarking process to characterize facial morphology for Angelman syndrome variation investigation are common challenges. By automatically detecting and annotating subject faces, we collected 83 landmarks and 10 anthropometric linear distances were measured from 17 selected anatomical landmarks to account for shape variability. Statistical analyses were performed on the extracted data to investigate facial variation in each age group. There is a correspondence in the results achieved by relative warp (RW) of the principal component (PC) and the thin-plate spline (TPS) interpolation. The group is highly discriminated and the pattern of shape variability is higher in children than other groups when judged by the anthropometric measurement and principal component.
    Matched MeSH terms: Angelman Syndrome/genetics; Angelman Syndrome/pathology*
  20. Islam MA, Khandker SS, Alam F, Kamal MA, Gan SH
    Autoimmun Rev, 2018 Mar;17(3):226-243.
    PMID: 29355608 DOI: 10.1016/j.autrev.2017.10.014
    BACKGROUND: Antiphospholipid Syndrome (APS) is an autoimmune multifactorial disorder. Genetics is believed to play a contributory role in the pathogenesis of APS, especially in thrombosis development and pregnancy morbidity. In the last 20 years, extensive research on genetic contribution on APS indicates that APS is a polygenic disorder, where a number of genes are involved in the development of its clinical manifestations.

    AIMS: The aim of this systematic review is to evaluate the genetic risk factors in thrombotic primary APS. Additionally, to assess the common molecular functions, biological processes, pathways, interrelations with the gene encoded proteins and RNA-Seq-derived expression patterns over different organs of the associated genes via bioinformatic analyses.

    METHODS: Without restricting the year, a systematic search of English articles was conducted (up to 4th September 2017) using Web of Science, PubMed, Scopus, ScienceDirect and Google Scholar databases. Eligible studies were selected based on the inclusion criteria. Two researchers independently extracted the data from the included studies. Quality assessment of the included studies was carried out using a modified New-Castle Ottawa scale (NOS).

    RESULTS: From an initial search result of 2673 articles, 22 studies were included (1268 primary APS patients and 1649 healthy controls). Twenty-two genes were identified in which 16 were significantly associated with thrombosis in primary APS whereas six genes showed no significant association with thrombosis. Based on the NOS, 14 studies were of high quality while 6 were low quality studies. From the bioinformatic analyses, thrombin-activated receptor activity (q = 6.77 × 10-7), blood coagulation (q = 2.63 × 10-15), formation of fibrin clot (q = 9.76 × 10-10) were the top hit for molecular function, biological process and pathway categories, respectively. With the highest confidence interaction score of 0.900, all of the thrombosis-associated gene encoded proteins of APS were found to be interconnected except for two. Based on the pathway analysis, cumulatively all the genes affect haemostasis [false discovery rate (FDR) = 1.01 × 10-8] and the immune system [FDR = 9.93 × 10-2]. Gene expression analysis from RNA-Seq data revealed that almost all the genes were expressed in 32 different tissues in the human body.

    CONCLUSION: According to our systematic review, 16 genes contribute significantly in patients with thrombotic primary APS when compared with controls. Bioinformatic analyses of these genes revealed their molecular interconnectivity in protein levels largely by affecting blood coagulation and immune system. These genes are expressed in 32 different organs and may pose higher risk of developing thrombosis anywhere in the body of primary APS patients.
    Matched MeSH terms: Antiphospholipid Syndrome/genetics*; Antiphospholipid Syndrome/immunology
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