Displaying publications 81 - 100 of 105 in total

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  1. Vicknasingam B, Narayanan S, Navaratnam V
    AIDS Care, 2009 Aug;21(8):984-91.
    PMID: 20024754 DOI: 10.1080/09540120802657530
    Despite the growing HIV threat among injecting drug users (IDUs) in Malaysia, there is a dearth of information on their HIV risk behaviour. This study focused on identifying specific risk behaviours that distinguished HIV positive IDUs from those who were not. For the first time, data on IDUs not in treatment were obtained through a cross-sectional survey of 526 subjects recruited from five selected cities across peninsular Malaysia. A structured questionnaire and face-to-face interviews were utilised to collect detailed information on their drug use practices and sexual behaviours. On-site serological testing determined their HIV and hepatitis C status. The findings indicated that ethnic Malays, who are also Muslims, form the majority of IDUs not in treatment. Bivariate analysis identified six risk factors associated with HIV seropositivity: being 44 years or younger; not holding a regular job; initiating drug use at age 23 or younger; being a morphine user; sharing injecting equipment and having multiple-sex partners. However, only the last two remained significant in multivariate analysis. That sharing contaminated injecting equipment is a significant risk factor strongly justifies the widening of the pilot needle and syringe exchange programme initiated hesitantly in late 2005 as a reaction to the worsening HIV/AIDS situation. Condom use, though not independently significant, remains important because consistent and wider use could neutralise the second risk factor--having multiple-sex partners. The finding that injecting drug use is increasingly occurring in groups underscores the need for outreach programmes that emphasise safe injecting practices in group settings. In addition, counsellors should endeavour to convince drug users to enter treatment since being in treatment appears to reduce risk behaviours. Finally, conservative Muslim unease about harm reduction must be assuaged quickly since Malay Muslims form the majority of IDUs not in treatment.
    Matched MeSH terms: Age of Onset
  2. Lim SL, Lim AK, Mumtaz M, Hussein E, Wan Bebakar WM, Khir AS
    Thyroid, 2008 Dec;18(12):1297-301.
    PMID: 19012471 DOI: 10.1089/thy.2008.0044
    The prevalence of thyroid-associated ophthalmopathy (TAO) has been reported to be lower in several Asian populations than in Caucasians. The risk factors for TAO that have been demonstrated in Caucasians have not been studied in Asian populations. The aim of this study, therefore, was to determine the prevalence, risk factors, and clinical features of TAO in a cohort of multiethnic Malaysian patients with Graves' disease (GD).
    Matched MeSH terms: Age of Onset
  3. Cross-Disorder Group of the Psychiatric Genomics Consortium
    Lancet, 2013 Apr 20;381(9875):1371-9.
    PMID: 23453885 DOI: 10.1016/S0140-6736(12)62129-1
    BACKGROUND: Findings from family and twin studies suggest that genetic contributions to psychiatric disorders do not in all cases map to present diagnostic categories. We aimed to identify specific variants underlying genetic effects shared between the five disorders in the Psychiatric Genomics Consortium: autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia.

    METHODS: We analysed genome-wide single-nucleotide polymorphism (SNP) data for the five disorders in 33,332 cases and 27,888 controls of European ancestory. To characterise allelic effects on each disorder, we applied a multinomial logistic regression procedure with model selection to identify the best-fitting model of relations between genotype and phenotype. We examined cross-disorder effects of genome-wide significant loci previously identified for bipolar disorder and schizophrenia, and used polygenic risk-score analysis to examine such effects from a broader set of common variants. We undertook pathway analyses to establish the biological associations underlying genetic overlap for the five disorders. We used enrichment analysis of expression quantitative trait loci (eQTL) data to assess whether SNPs with cross-disorder association were enriched for regulatory SNPs in post-mortem brain-tissue samples.

    FINDINGS: SNPs at four loci surpassed the cutoff for genome-wide significance (p<5×10(-8)) in the primary analysis: regions on chromosomes 3p21 and 10q24, and SNPs within two L-type voltage-gated calcium channel subunits, CACNA1C and CACNB2. Model selection analysis supported effects of these loci for several disorders. Loci previously associated with bipolar disorder or schizophrenia had variable diagnostic specificity. Polygenic risk scores showed cross-disorder associations, notably between adult-onset disorders. Pathway analysis supported a role for calcium channel signalling genes for all five disorders. Finally, SNPs with evidence of cross-disorder association were enriched for brain eQTL markers.

    INTERPRETATION: Our findings show that specific SNPs are associated with a range of psychiatric disorders of childhood onset or adult onset. In particular, variation in calcium-channel activity genes seems to have pleiotropic effects on psychopathology. These results provide evidence relevant to the goal of moving beyond descriptive syndromes in psychiatry, and towards a nosology informed by disease cause.

    FUNDING: National Institute of Mental Health.

    Matched MeSH terms: Age of Onset
  4. Ngeow WC, Zain RB, Yeo JF, Chai WL
    J Oral Sci, 2000 Mar;42(1):9-14.
    PMID: 10808269
    This was a retrospective study of odontogenic keratocysts in people from the Singapore-Malaysian region. The purpose of this study was to present the clinicopathologic features of odontogenic keratocysts in the Oriental population and to compare these data with those from other reported studies. Biopsy records from 1981 to 1992 of 61 cases of odontogenic keratocysts from patients in Malaysia and Singapore showed that 42.6% of patients were female and 57.4% of patients were male. Among patients with cysts, 75.4% were Chinese, 6.6% were Malays, 9.8% were Indians and 8.2% were other ethnic groups. The mean age of these patients was 26.98 +/- 15.38 years with a peak incidence occurring in the second to fourth decades. The location of the lesions was more often in the mandible (65.5%) than the maxilla (31.0%). There was a marked predilection for lesions to occur in the posterior mandible. Histologically, 90.2% of the cysts were lined with a para-keratinized stratified squamous epithelium while only 3.3% of the cysts were lined with orthokeratinized stratified squamous epithelium. Mixed para-keratinized and orthokeratinized epithelial linings were observed in 4 cases (6.5%). The cyst linings were mainly uninflamed (95.1%). Inflammation of the cyst wall was found in 42 cases (68.8%). Twelve (19.7%) cases contained keratin in the lumen. A satellite cyst was observed in only 6 cases (9.8%). In conclusion, most clinical and histological features seen in this study were similar to those found for Caucasians. The only clinical feature that was different was the peak age incidence, that ranged from the second to fourth decades, with an absence of a second peak. Odontogenic keratocysts presenting at the site of the dentigerous cyst were observed in 7 cases (11.5%).
    Matched MeSH terms: Age of Onset
  5. Prando C, Samarina A, Bustamante J, Boisson-Dupuis S, Cobat A, Picard C, et al.
    Medicine (Baltimore), 2013 Mar;92(2):109-122.
    PMID: 23429356 DOI: 10.1097/MD.0b013e31828a01f9
    Autosomal recessive interleukin (IL)-12 p40 (IL-12p40) deficiency is a rare genetic etiology of mendelian susceptibility to mycobacterial disease (MSMD). We report the genetic, immunologic, and clinical features of 49 patients from 30 kindreds originating from 5 countries (India, Iran, Pakistan, Saudi Arabia, and Tunisia). There are only 9 different mutant alleles of the IL12B gene: 2 small insertions, 3 small deletions, 2 splice site mutations, and 1 large deletion, each causing a frameshift and leading to a premature stop codon, and 1 nonsense mutation. Four of these 9 variants are recurrent, affecting 25 of the 30 reported kindreds, due to founder effects in specific countries. All patients are homozygous and display complete IL-12p40 deficiency. As a result, the patients lack detectable IL-12p70 and IL-12p40 and have low levels of interferon gamma (IFN-γ). The clinical features are characterized by childhood onset of bacille Calmette-Guérin (attenuated Mycobacterium bovis strain) (BCG) and Salmonella infections, with recurrences of salmonellosis (36.4%) more common than recurrences of mycobacterial disease (25%). BCG vaccination led to BCG disease in 40 of the 41 patients vaccinated (97.5%). Multiple mycobacterial infections were rare, observed in only 3 patients, whereas the association of salmonellosis and mycobacteriosis was observed in 9 patients. A few other infections were diagnosed, including chronic mucocutaneous candidiasis (n = 3), nocardiosis (n = 2), and klebsiellosis (n = 1). IL-12p40 deficiency has a high but incomplete clinical penetrance, with 33.3% of genetically affected relatives of index cases showing no symptoms. However, the prognosis is poor, with mortality rates of up to 28.6%. Overall, the clinical phenotype of IL-12p40 deficiency closely resembles that of interleukin 12 receptor β1 (IL-12Rβ1) deficiency. In conclusion, IL-12p40 deficiency is more common than initially thought and should be considered worldwide in patients with MSMD and other intramacrophagic infectious diseases, salmonellosis in particular.
    Matched MeSH terms: Age of Onset
  6. Lee DS, Yoon SY, Looi LM, Kang P, Kang IN, Sivanandan K, et al.
    Breast Cancer Res, 2012;14(2):R66.
    PMID: 22507745
    Germline TP53 mutations cause an increased risk to early-onset breast cancer in Li-Fraumeni syndrome (LFS) families and the majority of carriers identified through breast cancer cohorts have LFS or Li-Fraumeni-like (LFL) features. However, in Asia and in many low resource settings, it is challenging to obtain accurate family history and we, therefore, sought to determine whether the presence of early-onset breast cancer is an appropriate selection criteria for germline TP53 testing.
    Matched MeSH terms: Age of Onset
  7. Kang P, Mariapun S, Phuah SY, Lim LS, Liu J, Yoon SY, et al.
    Breast Cancer Res Treat, 2010 Nov;124(2):579-84.
    PMID: 20617377 DOI: 10.1007/s10549-010-1018-5
    Early studies of genetic predisposition due to the BRCA1 and BRCA2 genes have focused largely on sequence alterations, but it has now emerged that 4-28% of inherited mutations in the BRCA genes may be due to large genomic rearrangements of these genes. However, to date, there have been relatively few studies of large genomic rearrangements in Asian populations. We have conducted a full sequencing and large genomic rearrangement analysis (using Multiplex Ligation-dependent Probe Amplification, MLPA) of 324 breast cancer patients who were selected from a multi-ethnic hospital-based cohort on the basis of age of onset of breast cancer and/or family history. Three unrelated individuals were found to have large genomic rearrangements: 2 in BRCA1 and 1 in BRCA2, which accounts for 2/24 (8%) of the total mutations detected in BRCA1 and 1/23 (4%) of the mutations in BRCA2 detected in this cohort. Notably, the family history of the individuals with these mutations is largely unremarkable suggesting that family history alone is a poor predictor of mutation status in Asian families. In conclusion, this study in a multi-ethnic (Malay, Chinese, Indian) cohort suggests that large genomic rearrangements are present at a low frequency but should nonetheless be included in the routine testing for BRCA1 and BRCA2.
    Matched MeSH terms: Age of Onset
  8. West R, Hong J, Derraik JGB, Webster D, Heather NL, Hofman PL
    J Clin Endocrinol Metab, 2020 09 01;105(9).
    PMID: 32598474 DOI: 10.1210/clinem/dgaa415
    BACKGROUND: It is unclear whether newborns with mild thyrotropin elevation (mTSHe) are at risk of neurocognitive impairment. We assessed whether mTSHe at birth persists during childhood and compared neurocognitive functioning to siblings.

    METHODS: This study encompassed children born in the Auckland region (New Zealand) with a newborn screen TSH level of 8 to 14 mIU/L blood, age 6.9 to 12.6 years at assessment, and their siblings. Thyroid function tests (serum TSH and free thyroxine) and neurocognitive assessments were performed, including IQ via the Wechsler Intelligence Scale for Children, fourth edition.

    RESULTS: Ninety-six mTSHe individuals were studied, including 67 children recruited with 75 sibling controls. Mean mTSHe newborn TSH level was 10.1 mIU/L blood and 2.4 mIU/L at assessment (range, 0.8-7.0 mIU/L, serum). Although higher newborn TSH levels in the mTSHe group correlated with lower full-scale IQ scores (r = 0.25; P = .040), they were not associated with the magnitude of the IQ difference within sibling pairs (P = .56). Cognitive scores were similar for mTSHe and controls (full-scale IQ 107 vs 109; P = .36), with a minor isolated difference in motor coordination scores.

    CONCLUSIONS: Our data do not suggest long-term negative effects of neonatal mild TSH elevation. TSH elevation below the screen threshold appears largely transient, and midchildhood neurocognitive performance of these children was similar to their siblings. We propose that associations between neonatal mild TSH elevation and IQ are due to familial confounders. We caution against the practice of reducing screening CH cutoffs to levels at which the diagnosis may not offer long-term benefit for those detected.

    Matched MeSH terms: Age of Onset
  9. Vijay A, Bazazi AR, Yee I, Kamarulzaman A, Altice FL
    J Subst Abuse Treat, 2015 Jul;54:29-36.
    PMID: 25841703 DOI: 10.1016/j.jsat.2015.01.014
    Little is known about attitudes toward and experiences with opioid maintenance therapy (OMT) among people who inject drugs in Malaysia, a country where people who inject drugs comprise 1.3% of the adult population.
    Matched MeSH terms: Age of Onset
  10. 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: Age of Onset
  11. Giau VV, Bagyinszky E, Youn YC, An SSA, Kim S
    Int J Mol Sci, 2019 Sep 25;20(19).
    PMID: 31557888 DOI: 10.3390/ijms20194757
    The number of patients with Alzheimer's disease (AD) is rapidly increasing in Asia. Mutations in the amyloid protein precursor (APP), presenilin-1 (PSEN1), and presenilin-2 (PSEN2) genes can cause autosomal dominant forms of early-onset AD (EOAD). Although these genes have been extensively studied, variant classification remains a challenge, highlighting the need to colligate mutations across populations. In this study, we performed a genetic screening for mutations in the APP, PSEN1, and PSEN2 genes in 200 clinically diagnosed EOAD patients across four Asian countries, including Thailand, Malaysia, the Philippines, and Korea, between 2009 and 2018. Thirty-two (16%) patients presented pathogenic APP, PSEN1, or PSEN2 variants; eight (25%), 19 (59%), and five (16%) of the 32 patients presented APP, PSEN1, and PSEN2 variants, respectively. Among the 21 novel and known non-synonymous variants, five APP variants were found in Korean patients and one APP variant was identified in a Thai patient with EOAD. Nine, two, and one PSEN1 mutation was found in a Korean patient, Malaysian siblings, and a Thai patient, respectively. Unlike PSEN1 mutations, PSEN2 mutations were rare in patients with EOAD; only three variants were found in Korean patients with EOAD. Comparison of AD-causative point mutations in Asian countries; our findings explained only a small fraction of patients, leaving approximately 84% (p = 0.01) of autosomal dominant pedigrees genetically unexplained. We suggest that the use of high-throughput sequencing technologies for EOAD patients can potentially improve our understanding of the molecular mechanisms of AD.
    Matched MeSH terms: Age of Onset
  12. Halder D, Quah BS, Malik AS, Choo KE
    PMID: 9185277
    Neonatal septic arthritis has always been considered as separate from its counterpart in older children. The condition is uncommon but serious. Affected neonates usually survive, but with permanent skeletal deformities. Ten cases of neonatal septic arthritis were diagnosed between January 1989 and December 1993 in the neonatal intensive care units of two referral hospitals in the state of Kelantan, Malaysia. All except one neonate was born prematurely. The mean age of presentation was 15.6 days. Joint swelling (10/10), increased warmth (7/10) and erythema of the overlying skin (7/10) were the common presenting signs. Vague constitutional symptoms preceded the definitive signs of septic arthritis in all cases. The total white cell counts were raised with shift to the left. The knee (60%) was not commonly affected, followed by the hip (13%) and ankle (13%). Three neonates had multiple joint involvement. Coexistence of arthritis with osteomyelitis was observed in seven neonates. The commonest organism isolated was methicillin resistant Staphylococcus aureus (9/10). Needle aspiration was performed in nine neonates and one had incision with drainage. Follow up data was available for five neonates and two of these had skeletal morbidity. Early diagnosis by frequent examination of the joints, prompt treatment and control of nosocomial infection are important for management.
    Matched MeSH terms: Age of Onset
  13. Mimivati Z, Nurliza K, Marini M, Liza-Sharmini A
    Mol Vis, 2014;20:714-23.
    PMID: 24883016
    PURPOSE:
    To screen for mutations in the coding region of the myocilin (MYOC) gene in a large Malay family with juvenile-onset open angle glaucoma (JOAG).

    METHODS:
    A total of 122 family members were thoroughly examined and screened for JOAG. Venipuncture was conducted. Genomic DNA was extracted from peripheral blood leukocytes. The presence of a mutation and a polymorphism was ascertained with PCR amplification followed by the direct sequencing technique.

    RESULTS:
    Thirty-two of the 122 screened family members were identified to have JOAG (11 new cases and 21 known cases). An autosomal dominant inheritance pattern with incomplete penetrance was observed. A C→A substitution at position 1440 in exon 3 that changes asparagine (AAC) to lysine (AAA) was identified in affected family members except two probands (III:5 and IV:6). Six probands were identified as having the Asn480Lys mutation but have not developed the disease yet. An intronic polymorphism IVS2 730 +35 G>A was also identified. There was a significant association between Asn480Lys (p<0.001) and IVS2 730+35G>A (p<0.001) in the affected and unaffected probands in this family.

    CONCLUSIONS:
    The Asn480Lys mutation and the IVS2 730+35 G>A polymorphism increased susceptibility to JOAG in this large Malay pedigree. Identifying the MYOC mutations and polymorphisms is important for providing presymptomatic molecular diagnosis.
    Matched MeSH terms: Age of Onset
  14. Koh WH, Seah A, Chai P
    Ann Acad Med Singap, 1998 Jan;27(1):7-10.
    PMID: 9588267
    The aim of this retrospective study was to characterise the clinical presentation and disease associations of Oriental patients with gout seen in our hospital over a six-month period. One hundred patients comprising of 77 males and 23 females [89% Chinese, 7% Malays, 2% Indians and 2% others; mean age was 50.9 years (range 18 to 82 years), mean age at onset of disease was 43.7 years (range 16 to 78 years)] were studied. The disease was familial in 18% and 44% of patients had a history of alcohol ingestion. Co-morbid conditions included hypertension (36%), hyperlipidaemia (25%), renal failure (17%), ischaemic heart disease (13%), diabetes mellitus (4%), systemic lupus erythematosus (3%), psoriasis (2%) and ankylosing spondylitis (1%). The majority of patients (68%) had at least one associated disease. At the onset of disease, the joints commonly involved were the ankles (39%) and knees (27%) whilst the first metatarsophalangeal (MTP) joint was affected in only 26% of cases. Polyarticular onset was uncommon (n = 6). The precipitating factors reported by the patients included food (n = 23), alcohol (n = 12), drugs (n = 4), trauma (n = 3) and surgery (n = 2). Eleven patients had a history of renal calculi and 15% had tophaceous gout. Majority of patients (71%) had been treated with urate-lowering drugs (allopurinol). We concluded that gout in Singapore predominantly affects middle-aged men who often have an accompanying illness.
    Matched MeSH terms: Age of Onset
  15. Koh WH, Boey ML
    Ann Acad Med Singap, 1998 Jan;27(1):3-6.
    PMID: 9588266
    This paper presents the results of a clinical study of 150 patients in Singapore with ankylosing spondylitis (AS) and reviews recent developments locally with regards to the disease. The patients were predominantly males (ratio 7:1) and Chinese (n = 147). The onset of disease is usually in the early twenties and there was a mean delay of 6.3 years before diagnosis was made. Peripheral joint involvement is common but apart from uveitis (17%), extra-articular manifestations are rare. AS patients have abnormal lipid profiles and lower bone mineral density compared to healthy controls. HLA*B2704 is the predominant subtype in our Chinese patients whilst HLA*B2706 was found only in healthy controls. Intensive group physiotherapy is beneficial for patients with spondyloarthropathy.
    Matched MeSH terms: Age of Onset
  16. Loh NK, Lee WL, Yew WW, Tjia TL
    Ann Acad Med Singap, 1997 Jul;26(4):471-4.
    PMID: 9395813
    This survey covered male Singapore citizens born in 1974 who were medically screened at the age of 18 years before enlistment for compulsory military service. Suspected epileptics were referred to government hospitals for further management. Out of 20,542 men, there were 121 epileptics, giving a cumulative incidence of 5 per 1000 by age 18 years. We had information on 106 (87%) of these individuals and were able to interview them and review their hospital records. Seventy-three of the 106 (69%) epileptics had generalised seizures while 14 (13%) had refractory seizures. There was no statistically significant racial bias amongst these epileptics. Unprovoked afebrile seizures occurred early in these patients, half of whom had seizures onset before 7 years of age. Nine refractory epileptics had a history of febrile seizures, 4 of which were complex febrile seizures. Magnetic resonance imaging identified mesial temporal sclerosis in 2 patients and a hypothalamic lesion in 1 patient. Computed tomographic scans revealed focal cortical atrophy in 2 patients. Nine other patients had normal imaging studies. Nine out of 14 (64%) patients with refractory epilepsy had partial seizures; 4 (29%) had generalised seizures and 1 (7%) was unclassified. This is in contrast to the distribution of the entire cohort of epileptics studied. Two out of 9 patients with refractory partial seizures (gelastic epilepsy and mesial temporal sclerosis) had undergone surgery while 6 of the other 7 patients refused to consider surgery.
    Matched MeSH terms: Age of Onset
  17. Cheng YC, Stanne TM, Giese AK, Ho WK, Traylor M, Amouyel P, et al.
    Stroke, 2016 Feb;47(2):307-16.
    PMID: 26732560 DOI: 10.1161/STROKEAHA.115.011328
    BACKGROUND AND PURPOSE: Although a genetic contribution to ischemic stroke is well recognized, only a handful of stroke loci have been identified by large-scale genetic association studies to date. Hypothesizing that genetic effects might be stronger for early- versus late-onset stroke, we conducted a 2-stage meta-analysis of genome-wide association studies, focusing on stroke cases with an age of onset <60 years.

    METHODS: The discovery stage of our genome-wide association studies included 4505 cases and 21 968 controls of European, South-Asian, and African ancestry, drawn from 6 studies. In Stage 2, we selected the lead genetic variants at loci with association P<5×10(-6) and performed in silico association analyses in an independent sample of ≤1003 cases and 7745 controls.

    RESULTS: One stroke susceptibility locus at 10q25 reached genome-wide significance in the combined analysis of all samples from the discovery and follow-up stages (rs11196288; odds ratio =1.41; P=9.5×10(-9)). The associated locus is in an intergenic region between TCF7L2 and HABP2. In a further analysis in an independent sample, we found that 2 single nucleotide polymorphisms in high linkage disequilibrium with rs11196288 were significantly associated with total plasma factor VII-activating protease levels, a product of HABP2.

    CONCLUSIONS: HABP2, which encodes an extracellular serine protease involved in coagulation, fibrinolysis, and inflammatory pathways, may be a genetic susceptibility locus for early-onset stroke.

    Matched MeSH terms: Age of Onset
  18. Choon SE, Lai NM, Mohammad NA, Nanu NM, Tey KE, Chew SF
    Int J Dermatol, 2014 Jun;53(6):676-84.
    PMID: 23967807 DOI: 10.1111/ijd.12070
    BACKGROUND: Generalized pustular psoriasis (GPP) is a severe but rare variant of psoriasis. Our objective is to review the clinical profile, comorbidities, and outcome of patients with GPP.
    MATERIALS AND METHODS: A retrospective note review of all patients with adult-onset GPP.
    RESULTS: A total of 102 patients with adult-onset GPP were diagnosed between 1989 and November 2011, with a female to male ratio of 2 : 1. The mean age at onset of GPP was 40.9 years (range: 21-81 years). Acute GPP was the most common variant seen (95 cases), followed by four localized variants of GPP and three with annular pustular psoriasis. Fever and painful skin were present in 89% of patients, arthritis in 34.7%, and leukocytosis in 78.4%. Common triggers were systemic steroids (45 cases), pregnancy (17 cases), and upper respiratory tract infections (16 cases). A positive family history of psoriasis and GPP was present in 29% and 11%, respectively. Comorbidities included obesity (42.9%), hypertension (25.7%), hyperlipidemia (25.7%), and diabetes mellitus (23.7%). The mean duration of admission and pustular flare for acute GPP was 10.3 days (range: 3-44 days) and 16 days (range: 7-60 days), respectively. Fifty-four patients responded to systemic retinoid, 21 to methotrexate, eight to cyclosporine, and one to adalimumab, but recurrences were common.
    CONCLUSIONS: Our study confirms the poor response of GPP to currently available anti-psoriatic agents, with frequent flare-ups. There is a need for a more effective targeted therapy for this condition.
    Matched MeSH terms: Age of Onset
  19. Rosdinom R, Fazli A, Ruzyanei NJ, Azlin B, Srijit D
    Clin Ter, 2011;162(1):23-9.
    PMID: 21448542
    BACKGROUND AND AIMS: Parkinson disease (PD) is the second most prevalent neurodegenerative disorder after Alzheimer disease. Besides motor presentations, cognitive impairment is among the other likely complications as the illness progresses. This study aimed to determine the prevalence of cognitive impairment in PD and the factors associated with the cognitive impairment.
    MATERIALS AND METHODS: A cross-sectional, descriptive study was conducted on all PD patients at different stages of their illness, in two major tertiary hospitals in Malaysia with their caregivers, over a three month period in 2002. Patients' cognitive functions were tested using the Mini Mental State Examination (MMSE). Important sociodemographic data and relevant clinical information of the patients as well as caregivers' information on income, duration of care-giving, relationship with the patient, and other relevant variables were gathered. Patients' level of functioning was assessed using the Activities of Daily Living (ADL) index. Staging of illness was done based on the Hoehn and Yahr Scale.
    RESULTS: Out of 115 eligible patients, 35% were in the 60-69 age group with 57% in stage 2 of illness, A total of 29% of patients experienced various degrees of cognitive impairment , with almost half (47%) in the stage 3 and 4 exhibiting MMSE scores <24. Factors which were significantly associated with impaired cognitions were race, educational level and stage of illness.
    CONCLUSION: Cognitive impairment was fairly common in PD and the severity of impairment in cognition and physical functioning increased with the advancement of the illness.
    Matched MeSH terms: Age of Onset
  20. Wan Juhari WK, Wan Abdul Rahman WF, Mohd Sidek AS, Abu Hassan MR, Ahmad Amin Noordin KB, Zakaria AD, et al.
    Asian Pac J Cancer Prev, 2015;16(9):3767-71.
    PMID: 25987035
    BACKGROUND: Lynch syndrome (LS) is an inherited predisposition to colorectal, endometrial (uterine) and other cancers. Although most cancers are not inherited, about 5 percent (%) of people who have colorectal or endometrial cancer have the Lynch syndrome. It involves the alteration of mismatch repair (MMR) genes; MLH1, MSH2, MSH6 or PMS2. In this study, we analyzed the expression of MMR proteins in colorectal cancer in a Malay cohort by immunohistochemistry.

    MATERIALS AND METHODS: A total of 17 patients were selected fulfilling one of the Bethesda criteria: colorectal cancer diagnosed in a patient aged less than 50 years old, having synchronous and metachronous colorectal cancer or with a strong family history. Immunohistochemical staining was performed on paraffin embedded tumour tissue samples using four antibodies: MLH1, MSH2, MSH6 and PMS2.

    RESULTS: Twelve out of 17 patients (70.6%) were noted to have a family history. A total of 41% (n=7) of the patients had abnormal immunohistochemical staining with one or more of the four antibodies. Loss of expression were noted in 13 tumour tissues with a negative staining score <4. Of 13 tumour tissues, four showed loss expression of MLH1. For PMS2, loss of expression were noted in five cases. Both MSH2 and MSH6 showed loss of expression in two tumour tissues respectively.

    CONCLUSIONS: Revised Bethesda criteria and immunohistochemical analysis constituted a convenient approach and is recommended to be a first-line screening for Lynch syndrome in Malay cohorts.

    Matched MeSH terms: Age of Onset
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