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  1. "Back to the Jungle": Investigating Rats, Grass, Scrub Typhus, and Plantations in Malaya, 1924 - 1974
    Greatrex JE
    Med Anthropol, 2023 May 19;42(4):340-353.
    PMID: 37022723 DOI: 10.1080/01459740.2023.2185887
    In this article, I examine epidemiological research into scrub typhus in British Malaya between 1924 and 1974. Interwar research, I show, explained the incidence of the disease through conjunctions of rats, mites, plantations, lalang grass, and "jungle." In the process, interwar researchers bridged a novel scientific vocabulary centering on disease "reservoirs" with older suspicions of plantations enabling "pests," as well as with a later, explicitly ecological understanding of infectious disease. In exploring this history I thereby help to re-historicize the emergence of ecological notions of disease reservoirs, whilst also pushing at the limit-points of influential notions of "tropicality."
    Matched MeSH terms: Disease Reservoirs
  2. Fulltext "Discovery to treatment" window in patients with smear-positive pulmonary tuberculosis
    Loh LC, Codati A, Jamil M, Noor ZM, Vijayasingham P
    Med J Malaysia, 2005 Aug;60(3):314-9.
    PMID: 16379186
    Delay in commencing treatment in patients diagnosed with smear-positive pulmonary tuberculosis (PTB) may promote the spread of PTB in the community. Socio-demographic and clinical data from 169 patients (119 retrospectively and 50 prospectively collected) treated for smear-positive PTB in our hospital Chest Clinic from June 2002 to February 2003 were analysed. One hundred and fifty eight (93.5%) patients were started on treatment in less than 7 days from the time when the report first became available while 11 (6.5%) patients had their treatment started > or = 7 days. The median 'discovery to treatment' window was 1 day (range, 0 to 24 days). Of the factors studied, longevity of symptoms, absence of fever or night sweats and having sought traditional medicine were associated with delay in treatment commencement. The urgency and importance of anti-TB treatment should be emphasized especially to patients who are inclined towards treatment with traditional medicine.
    Keywords: Smear positive, pulmonary tuberculosis, treatment delay, traditional medicine, Malaysia, Seremban, Negeri Sembilan
    Matched MeSH terms: Communicable Disease Control*
  3. "Fleshy" Skin Cellulitis: A Triggering Factor for ANCA Associated Vasculitis
    Yang SC, Mustafar R, Kamaruzaman L, Wei Yen K, Mohd R, Cader R
    Acta Med Indones, 2019 Oct;51(4):338-343.
    PMID: 32041918
    A 59-year-old lady with underlying hypothyroidism presented with acute contact dermatitis progressed to cellulitis with superimposed bacterial infection and acute kidney injury. She responded to initial management with antibiotics, but a week later, she had cutaneous and systemic vasculitis. Her skin biopsy consistent with immune-mediated leuko-cytoclastic vasculitis and her blood test was positive for cytoplasmic-anti-neutrophil cytoplasmic antibody (c-ANCA). A diagnosis of ANCA-associated vasculitis was made and she was treated with immunosuppressant with plasmapheresis and hemodialysis support for her kidney failure. Despite aggressive measures, the patient succumbed to her illness. This case report demonstrates that soft tissue infection could trigger the development of ANCA-associated vasculitis whilst a background of hypothyroidism serves as a predisposing factor as both condition were reported separately in a couple of case studies before.
    Matched MeSH terms: Disease Progression
  4. Fulltext "High-Risk" Clinical and Inflammatory Clusters in COPD of Chinese Descent
    Tiew PY, Ko FWS, Narayana JK, Poh ME, Xu H, Neo HY, et al.
    Chest, 2020 07;158(1):145-156.
    PMID: 32092320 DOI: 10.1016/j.chest.2020.01.043
    BACKGROUND: COPD is a heterogeneous disease demonstrating inter-individual variation. A high COPD prevalence in Chinese populations is described, but little is known about disease clusters and prognostic outcomes in the Chinese population across Southeast Asia. We aim to determine if clusters of Chinese patients with COPD exist and their association with systemic inflammation and clinical outcomes.

    RESEARCH QUESTION: We aim to determine if clusters of Chinese patients with COPD exist and their association with clinical outcomes and inflammation.

    STUDY DESIGN AND METHODS: Chinese patients with stable COPD were prospectively recruited into two cohorts (derivation and validation) from six hospitals across three Southeast Asian countries (Singapore, Malaysia, and Hong Kong; n = 1,480). Each patient was followed more than 2 years. Clinical data (including co-morbidities) were employed in unsupervised hierarchical clustering (followed by validation) to determine the existence of patient clusters and their prognostic outcome. Accompanying systemic cytokine assessments were performed in a subset (n = 336) of patients with COPD to determine if inflammatory patterns and associated networks characterized the derived clusters.

    RESULTS: Five patient clusters were identified including: (1) ex-TB, (2) diabetic, (3) low comorbidity: low-risk, (4) low comorbidity: high-risk, and (5) cardiovascular. The cardiovascular and ex-TB clusters demonstrate highest mortality (independent of Global Initiative for Chronic Obstructive Lung Disease assessment) and illustrate diverse cytokine patterns with complex inflammatory networks.

    INTERPRETATION: We describe clusters of Chinese patients with COPD, two of which represent high-risk clusters. The cardiovascular and ex-TB patient clusters exhibit high mortality, significant inflammation, and complex cytokine networks. Clinical and inflammatory risk stratification of Chinese patients with COPD should be considered for targeted intervention to improve disease outcomes.

    Matched MeSH terms: Pulmonary Disease, Chronic Obstructive/complications*; Pulmonary Disease, Chronic Obstructive/diagnosis; Pulmonary Disease, Chronic Obstructive/epidemiology*
  5. Fulltext "Non-infectious" syndromes associated with infectious agents
    Lim VKE
    Med J Malaysia, 2000 Sep;55(3):389-97; quiz 398.
    PMID: 11200726
    Over the past two decades there has been numerous new associations between chronic diseases traditionally considered non-infectious with infectious agents. This list of diseases include peptic ulcer, coronary heart disease, neuropsychiatric disorders, haematological disorders and malignancies. These associations have been made possible through improvements in diagnostic tests based on molecular biology techniques. The discovery of these associations is important as it opens up exciting opportunities for the prevention and treatment of many diseases hitherto considered incurable.
    Matched MeSH terms: Coronary Disease/microbiology*
  6. "Pre-emptive strike"-the case for early treatment of hepatic sinusoidal obstruction syndrome with defibrotide
    Rajagopal R, Phillips MB, Gottardo NG
    Pediatr Blood Cancer, 2018 07;65(7):e27036.
    PMID: 29537138 DOI: 10.1002/pbc.27036
    The initial signs of hepatic sinusoidal obstruction syndrome (HSOS) can be challenging to recognize in children, especially outside the hematopoietic stem cell transplantation setting. To assist clinicians to promptly identify HSOS, the European Society for Blood and Marrow Transplantation has proposed pediatric HSOS diagnostic criteria which emphasize unexplained consumptive and transfusion-refractory thrombocytopenia. To highlight the importance of these "bellwether" early signs of HSOS and the efficacy of pre-emptive treatment with defibrotide, we describe the case of a child with a right 11th rib primitive neuroectodermal tumor who developed HSOS following focal radiotherapy and actinomycin-D treatment.
    Matched MeSH terms: Hepatic Veno-Occlusive Disease/drug therapy*
  7. "REPORT ON THE OUTBREAK OF CHOLERA IN MALACCA, 1963 BY THE COMMITTEE OF ENQUIRY APPOINTED BY THE CABINET": A CRITICAL REVIEW
    SANDOSHAM AA
    Med J Malaysia, 1964 Jun;18:276-80.
    PMID: 14199446
    Matched MeSH terms: Communicable Disease Control*; Disease Outbreaks*
  8. "Stain in life": The meaning of urinary incontinence in the context of Muslim postmenopausal women through hermeneutic phenomenology
    Hamid TA, Pakgohar M, Ibrahim R, Dastjerdi MV
    Arch Gerontol Geriatr, 2015 May-Jun;60(3):514-21.
    PMID: 25662038 DOI: 10.1016/j.archger.2015.01.003
    UI is a worldwide chronic condition among postmenopausal women. Little is known about the meaning of lived experiences of urinary incontinence of these women's viewpoints in their context.
    Matched MeSH terms: Chronic Disease
  9. 'Non-criteria' neurologic manifestations of antiphospholipid syndrome: a hidden kingdom to be discovered
    Islam MA, Alam F, Kamal MA, Wong KK, Sasongko TH, Gan SH
    CNS Neurol Disord Drug Targets, 2016;15(10):1253-1265.
    PMID: 27658514 DOI: 10.2174/1871527315666160920122750
    Neurological manifestations or disorders associated with the central nervous system are among the most common and important clinical characteristics of antiphospholipid syndrome (APS). Although in the most recently updated (2006) APS classification criteria, the neurological manifestations encompass only transient ischemic attack and stroke, diverse 'non-criteria' neurological disorders or manifestations (i.e., headache, migraine, bipolar disorder, transverse myelitis, dementia, chorea, epileptic seizures, multiple sclerosis, psychosis, cognitive impairment, Tourette's syndrome, parkinsonism, dystonia, transient global amnesia, obsessive compulsive disorder and leukoencephalopathy) have been observed in APS patients. To date, the underlying mechanisms responsible for these abnormal neurological manifestations in APS remain unclear. In vivo experiments and human observational studies indicate the involvement of thrombotic events and/or high titers of antiphospholipid antibodies in the neuro-pathogenic cascade of APS. Although different types of neurologic manifestations in APS patients have successfully been treated with therapies involving anti-thrombotic regimens (i.e., anticoagulants and/or platelet antiaggregants), antineuralgic drugs (i.e., antidepressants, antipsychotics and antiepileptics) and immunosuppressive drugs alone or in combination, evidence-based guidelines for the management of the neurologic manifestations of APS remain unavailable. Therefore, further experimental, clinical and retrospective studies with larger patient cohorts are warranted to elucidate the pathogenic linkage between APS and the central nervous system in addition to randomized controlled trials to facilitate the discovery of appropriate medications for the 'non-criteria' neurologic manifestations of APS.
    Matched MeSH terms: Disease Models, Animal
  10. 'Rapid transit' constipation in children: a possible genesis for irritable bowel syndrome
    Hutson JM, Hynes MC, Kearsey I, Yik YI, Veysey DM, Tudball CF, et al.
    Pediatr Surg Int, 2020 Jan;36(1):11-19.
    PMID: 31673760 DOI: 10.1007/s00383-019-04587-x
    Children with chronic idiopathic constipation (CIC) often end up at the surgeon when medical treatments have failed. This opinion piece discusses a recently described pattern of CIC called 'Rapid transit constipation (RTC)' first identified in 2011 as part of surgical workup. RTC was identified using a nuclear medicine gastrointestinal transit study (NMGIT or nuclear transit study) to determine the site of slowing within the bowel and to inform surgical treatment. Unexpectedly, we found that RTC occured in 29% of 1000 transit studies in a retrospective audit. Irritable bowel syndrome (IBS) occurs in 7-21% of the population, with a higher prevalence in young children and with constipation type dominating in the young. While 60% improve with time, 40% continue with symptoms. First-line therapy for IBS in adults is a diet low in fermentable oligosaccharides, disaccharides, monosaccharides and polyols which reduces symptoms in > 70% of patients. In children with functional gastrointestinal disorders, fructose intolerance occurs in 35-55%. Reducing fructose produced significant improvement in 77-82% of intolerant patients. In children with RTC and a positive breath test upon fructose challenge, we found that exclusion of fructose significantly improved constipation, abdominal pain, stool consistency and decreased laxative use. We hypothesise that positive breath tests and improvement of pain and bowel frequency with sugar exclusion diets in RTC suggest these children have IBS-C. These observations raise the possibility that many children with CIC could be treated by reducing fructose early in their diet and this might prevent the development of IBS in later life.
    Matched MeSH terms: Hirschsprung Disease/surgery
  11. Fulltext (R)-Salbutamol Improves Imiquimod-Induced Psoriasis-Like Skin Dermatitis by Regulating the Th17/Tregs Balance and Glycerophospholipid Metabolism
    Liu F, Wang S, Liu B, Wang Y, Tan W
    Cells, 2020 02 24;9(2).
    PMID: 32102363 DOI: 10.3390/cells9020511
    Psoriasis is a skin disease that is characterized by a high degree of inflammation caused by immune dysfunction. (R)-salbutamol is a bronchodilator for asthma and was reported to alleviate immune system reactions in several diseases. In this study, using imiquimod (IMQ)-induced mouse psoriasis-like dermatitis model, we evaluated the therapeutic effects of (R)-salbutamol in psoriasis in vivo, and explored the metabolic pathway involved. The results showed that, compared with IMQ group, (R)-salbutamol treatment significantly ameliorated psoriasis, reversed the suppressive effects of IMQ on differentiation, extreme keratinocyte proliferation, and infiltration of inflammatory cells. Enzyme-linked immunosorbent assays (ELISA) showed that (R)-salbutamol markedly reduced the plasma levels of IL-17. Cell analysis using flow cytometry showed that (R)-salbutamol decreased the proportion of CD4+ Th17+ T cells (Th17), whereas it increased the percentage of CD25+ Foxp3+ regulatory T cells (Tregs) in the spleens. (R)-salbutamol also decreased the weight ratio of spleen to body. Furthermore, untargeted metabolomics showed that (R)-salbutamol affected three metabolic pathways, including (i) arachidonic acid metabolism, (ii) sphingolipid metabolism, and (iii) glycerophospholipid metabolism. These results demonstrated that (R)-salbutamol can alleviate IMQ-induced psoriasis through regulating Th17/Tregs cell response and glycerophospholipid metabolism. It may provide a new use of (R)-salbutamol in the management of psoriasis.
    Matched MeSH terms: Disease Models, Animal
  12. 1'-Acetoxychavicol acetate inhibits NLRP3-dependent inflammasome activation via mitochondrial ROS suppression
    Sok SPM, Ori D, Wada A, Okude H, Kawasaki T, Momota M, et al.
    Int Immunol, 2021 06 18;33(7):373-386.
    PMID: 33830232 DOI: 10.1093/intimm/dxab016
    The nucleotide-binding oligomerization domain-like receptor (NLR) family pyrin domain containing (NLRP) 3 inflammasome is a multiprotein complex that triggers Caspase-1-mediated IL-1β production and pyroptosis, and its dysregulation is associated with the pathogenesis of inflammatory diseases. 1'-Acetoxychavicol acetate (ACA) is a natural compound in the rhizome of tropical ginger Alpinia species with anti-microbial, anti-allergic and anti-cancer properties. In this study, we found that ACA suppressed NLRP3 inflammasome activation in mouse bone marrow-derived macrophages and human THP-1 monocytes. ACA inhibited Caspase-1 activation and IL-1β production by NLRP3 agonists such as nigericin, monosodium urate (MSU) crystals, and ATP. Moreover, it suppressed oligomerization of the adapter molecule, apoptosis-associated speck-like protein containing a CARD (ASC), and Caspase-1-mediated cleavage of pyroptosis executor Gasdermin D. Mechanistically, ACA inhibited generation of mitochondrial reactive oxygen species (ROS) and prevented release of oxidized mitochondrial DNA, which trigger NLRP3 inflammasome activation. ACA also prevented NLRP3 inflammasome activation in vivo, as evidenced in the MSU crystal-induced peritonitis and dextran sodium sulfate-induced colitis mouse models accompanied by decreased Caspase-1 activation. Thus, ACA is a potent inhibitor of the NLRP3 inflammasome for prevention of NLRP3-associated inflammatory diseases.
    Matched MeSH terms: Disease Models, Animal
  13. 1-Year Outcomes with COMBO Stents in Small-Vessel Coronary Disease: Subgroup Analysis From the COMBO Collaboration
    Chandrasekhar J, Zeebregts D, Kalkman DN, Sartori S, Roumeliotis A, Aquino MB, et al.
    Cardiovasc Revasc Med, 2020 12;21(12):1542-1547.
    PMID: 32507695 DOI: 10.1016/j.carrev.2020.05.002
    BACKGROUND: Small vessel diameter is associated with higher risk of target lesion revascularization (TLR) after percutaneous coronary intervention (PCI). The COMBO sirolimus-eluting biodegradable-polymer stent has a proprietary anti-CD34 antibody layer to enhance homogeneous endothelialization, which may be advantageous in treating small vessels.

    OBJECTIVE: We examined for differences in 1-year clinical outcomes after PCI by maximum implanted stent diameter from the COMBO collaboration.

    METHODS: The COMBO collaboration (n = 3614) is a patient-level pooled dataset of patients undergoing PCI with COMBO stents in the MASCOT and REMEDEE multicenter registries. Stent diameter was available in 3590 (99.3%) patients. We compared patients receiving COMBO stents <3 mm versus ≥3 mm. The primary endpoint was 1-year target lesion failure (TLF), composite of cardiac death, target vessel-myocardial infarction (TV-MI) or clinically driven TLR. Secondary outcomes included stent thrombosis (ST). Adjusted outcomes were assessed using Cox regression methods.

    RESULTS: The study included 792 (22%) patients with small stents <3 mm and 2798 (78%) patients with large stents ≥3 mm. Small stent patients included more women with lower body mass index and higher prevalence of diabetes but similar prevalence of acute coronary syndrome. Risk of 1-year TLF was similar in small and large stent groups (4.4% vs. 3.8%, HR 1.12, 95% CI 0.74-1.72, p = 0.58). There were no differences in the rates of cardiac death (1.7% vs. 1.5%, p = 0.74), TV-MI (1.4% vs. 1.2%, p = 0.58) or TLR (2.7% vs. 2.1%, p = 0.31). Definite or probable ST occurred in 1.3% of the small stent and 0.7% of the large stent PCI patients, p = 0.14, HR 2.13, 95% CI 0.93-5.00, p = 0.07.

    CONCLUSIONS: One-year ischemic outcomes after COMBO PCI were similar irrespective of stent diameter in this all-comers international cohort.

    Matched MeSH terms: Coronary Artery Disease*
  14. 18F-FDG PET/CT in Metastatic Extramammary Paget's Disease
    Khoo ACH, Yeoh KW
    Clin Nucl Med, 2019 Oct;44(10):808-809.
    PMID: 31348083 DOI: 10.1097/RLU.0000000000002739
    Extramammary Paget's disease (EMPD) is a rare disease with an estimated prevalence of 0.1 to 2.4 per 1,000,000 person-years. Metastatic EMPD has a poor prognosis with a 5-year survival of approximately 7%. Local therapy is the only curative option with surgery being recommended for resectable disease. It is therefore crucial to be able to stage such patients appropriately. The utility of F-FDG PET/CT for this disease is not well established. We share a case on how F-FDG PET/CT was used to stage metastatic EMPD.
    Matched MeSH terms: Paget Disease, Extramammary/pathology*
  15. 1H NMR based pharmacometabolomics analysis of urine identifies metabolic phenotype of clopidogrel high on treatment platelets reactivity in coronary artery disease patients
    Amin AM, Sheau Chin L, Teh CH, Mostafa H, Mohamed Noor DA, Sk Abdul Kader MA, et al.
    J Pharm Biomed Anal, 2017 Nov 30;146:135-146.
    PMID: 28873361 DOI: 10.1016/j.jpba.2017.08.018
    Clopidogrel high on treatment platelets reactivity (HTPR) has burdened achieving optimum therapeutic outcome. Although there are known genetic and non-genetic factors associated with clopidogrel HTPR, which explain in part clopidogrel HTPR, yet, great portion remains unknown, often hindering personalizing antiplatelet therapy. Nuclear magnetic resonance (1H NMR) pharmacometabolomics analysis is useful technique to phenotype drug response. We investigated using 1H NMR analysis to phenotype clopidogrel HTPR in urine. Urine samples were collected from 71 coronary artery disease (CAD) patients who were planned for interventional angiographic procedure prior to taking 600mg clopidogrel loading dose (LD) and 6h post LD. Patients' platelets function testing was assessed with the VerifyNow® P2Y12 assay at 6h after LD. Urine samples were analysed using 1H NMR. Multivariate statistical analysis was used to identify metabolites associated with clopidogrel HTPR. In pre-dose samples, 16 metabolites were associated with clopidogrel HTPR. However, 18 metabolites were associated with clopidogrel HTPR in post-dose samples. The pathway analysis of the identified biomarkers reflected that multifactorial conditions are associated with clopidogrel HTPR. It also revealed the implicated role of gut microbiota in clopidogrel HTPR. Pharmacometabolomics not only discovered novel biomarkers of clopidogrel HTPR but also revealed implicated pathways and conditions.
    Matched MeSH terms: Coronary Artery Disease/drug therapy*; Coronary Artery Disease/urine*
  16. Fulltext 1H NMR-based metabolomics investigation of copper-laden rat: a model of Wilson's disease
    Xu J, Jiang H, Li J, Cheng KK, Dong J, Chen Z
    PLoS One, 2015;10(4):e0119654.
    PMID: 25849323 DOI: 10.1371/journal.pone.0119654
    Wilson's disease (WD), also known as hepatoleticular degeneration (HLD), is a rare autosomal recessive genetic disorder of copper metabolism, which causes copper to accumulate in body tissues. In this study, rats fed with copper-laden diet are used to render the clinical manifestations of WD, and their copper toxicity-induced organ lesions are studied. To investigate metabolic behaviors of 'decoppering' process, penicillamine (PA) was used for treating copper-laden rats as this chelating agent could eliminate excess copper through the urine. To date, there has been limited metabolomics study on WD, while metabolic impacts of copper accumulation and PA administration have yet to be established.
    Matched MeSH terms: Disease Models, Animal*
  17. 2-Furoic piperazide derivatives as promising drug candidates of type 2 diabetes and Alzheimer's diseases: In vitro and in silico studies
    Abbasi MA, Hassan M, Ur-Rehman A, Siddiqui SZ, Hussain G, Shah SAA, et al.
    Comput Biol Chem, 2018 Dec;77:72-86.
    PMID: 30245349 DOI: 10.1016/j.compbiolchem.2018.09.007
    The heterocyclic compounds have been extensively reported for their bioactivity potential. The current research work reports the synthesis of some new multi-functional derivatives of 2-furoic piperazide (1; 1-(2-furoyl)piperazine). The synthesis was initiated by reacting the starting compound 1 with 3,5-dichloro-2-hydroxybenzenesulfonyl chloride (2) in a basic, polar and protic medium to obtain the parent sulfonamide 3 which was then treated with different electrophiles, 4a-g, in a polar and aprotic medium to acquire the designed molecules, 5a-g. These convergent derivatives were evaluated for their inhibitory potential against α-glucosidase, acetylcholinesterase (AChE) and butyrylcholinesterase (BChE) enzymes. Acarbose was used as a reference standard for α-glucosidase inhibition while eserine for AChE and BChE inhibition. Some of the synthesized compounds were identified as promising inhibitors of these three enzymes and their bioactivity potentials were also supported by molecular docking study. The most active compounds among the synthetic analogues might be helpful in drug discovery and development for the treatment of type 2 diabetes and Alzhiemer's diseases.
    Matched MeSH terms: Alzheimer Disease/drug therapy*; Alzheimer Disease/metabolism
  18. Fulltext 2013 dengue outbreaks in Singapore and Malaysia caused by different viral strains
    Ng LC, Chem YK, Koo C, Mudin RNB, Amin FM, Lee KS, et al.
    Am J Trop Med Hyg, 2015 Jun;92(6):1150-1155.
    PMID: 25846296 DOI: 10.4269/ajtmh.14-0588
    Characterization of 14,079 circulating dengue viruses in a cross-border surveillance program, UNITEDengue, revealed that the 2013 outbreaks in Singapore and Malaysia were associated with replacement of predominant serotype. While the predominant virus in Singapore switched from DENV2 to DENV1, DENV2 became predominant in neighboring Malaysia. Dominance of DENV2 was most evident on the southern states where higher fatality rates were observed.
    Matched MeSH terms: Disease Outbreaks*
  19. Fulltext 27 years of benthic and coral community dynamics on turbid, highly urbanised reefs off Singapore
    Guest JR, Tun K, Low J, Vergés A, Marzinelli EM, Campbell AH, et al.
    Sci Rep, 2016 11 08;6:36260.
    PMID: 27824083 DOI: 10.1038/srep36260
    Coral cover on reefs is declining globally due to coastal development, overfishing and climate change. Reefs isolated from direct human influence can recover from natural acute disturbances, but little is known about long term recovery of reefs experiencing chronic human disturbances. Here we investigate responses to acute bleaching disturbances on turbid reefs off Singapore, at two depths over a period of 27 years. Coral cover declined and there were marked changes in coral and benthic community structure during the first decade of monitoring at both depths. At shallower reef crest sites (3-4 m), benthic community structure recovered towards pre-disturbance states within a decade. In contrast, there was a net decline in coral cover and continuing shifts in community structure at deeper reef slope sites (6-7 m). There was no evidence of phase shifts to macroalgal dominance but coral habitats at deeper sites were replaced by unstable substrata such as fine sediments and rubble. The persistence of coral dominance at chronically disturbed shallow sites is likely due to an abundance of coral taxa which are tolerant to environmental stress. In addition, high turbidity may interact antagonistically with other disturbances to reduce the impact of thermal stress and limit macroalgal growth rates.
    Matched MeSH terms: Disease Resistance
  20. 3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency
    Rokicki D, Pajdowska M, Trubicka J, Thong MK, Ciara E, Piekutowska-Abramczuk D, et al.
    Clin Chim Acta, 2017 Aug;471:95-100.
    PMID: 28526534 DOI: 10.1016/j.cca.2017.05.023
    The urea cycle disorder carbamoyl phosphate synthetase I deficiency is an important differential diagnosis in the encephalopathic neonate. This intoxication type inborn error of metabolism often leads to neonatal death or severe and irreversible damage of the central nervous system, even despite appropriate treatment. Timely diagnosis is crucial, but can be difficult on routine metabolite level. Here, we report ten neonates from eight families (finally) diagnosed with CPS1 deficiency at three tertiary metabolic centres. In seven of them the laboratory findings were dominated by significantly elevated urinary 3-methylglutaconic acid levels which complicated the diagnostic process. Our findings are both important for the differential diagnosis of patients with urea cycle disorders and also broaden the differential diagnosis of hyperammonemia associated with 3-methylglutaconic aciduria, which was earlier only reported in TMEM70 and SERAC1 defect.
    Matched MeSH terms: Carbamoyl-Phosphate Synthase I Deficiency Disease/diagnosis; Carbamoyl-Phosphate Synthase I Deficiency Disease/genetics; Carbamoyl-Phosphate Synthase I Deficiency Disease/urine*
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