Displaying publications 1 - 20 of 83 in total

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  1. Representing landslides as polygon (areal) or points? How different data types influence the accuracy of landslide susceptibility maps
    Simon N, de Roiste M, Crozier M, Abdul Ghani Rafek
    Sains Malaysiana, 2017;46:27-34.
    In the literatures, discussions on the accuracy of different models for landslide analysis have been discussed widely.
    However, to date, arguments on the type of input data (landslides in the form of point or polygon) and how they affect
    the accuracy of these models can hardly be found. This study assesses how different types of data (point or polygon)
    applied to the same model influence the accuracy of the model in determining areas susceptible to landsliding. A total
    of 137 landslides was digitised as polygon (areal) units and then transformed into points; forming two separate datasets
    both representing the same landslides within the study area. These datasets were later separated into training and
    validation datasets. The polygon unit dataset uses the area density technique reported as percentage, while the point
    data uses the landslide density technique, as means of assigning weighting to landslide factor maps to generate the
    landslide susceptibility map that is based on the analytical hierarchy process (AHP) model. Both data groups show striking
    differences in terms of mapping accuracy for both training and validation datasets. The final landslide susceptibility
    map using area density (polygon) as input only has 48% (training) and 35% (validation) accuracy. The accuracy for
    the susceptibility map using the landslide density as input data achieved 89% and 82% for both training and validation
    datasets, respectively. This result showed that the selection of the type of data for landslide analysis can be critical in
    producing an acceptable level of accuracy for the landslide susceptibility map. The authors hope that the finding of this
    research will assist landslide investigators to determine the appropriateness of the type of landslide data because it will
    influence the accuracy of the final landslide potential map.
    Matched MeSH terms: Disease Susceptibility
  2. Fulltext The identification of copy number variation of CNV ESV27061 among young adults with hypertension: preliminary findings. [Abstract]
    Shaik Alaudeen SR, Mohd Shah AS, Abdul Talib N, Abdullah A
    International Medical Journal Malaysia, 2017;16(11):31.
    MyJurnal
    Introduction: Hypertension related morbidities and mortalities around the world show a gradual increase and early detection and prevention are advocated. The Database of Genomic Variants (DGV) has associated variation in DNA sequences called copy number variation (CNV) with susceptibility to common diseases. However, little is known about CNV role in essential hypertension. Thus, this study aimed to characterize the CNV esv27061 among prehypertensive and hypertensive young adults in Malaysia. Materials and method: In this comparative cross-sectional study, 104 subjects living in Kuantan who gave voluntary consent to participate are recruited and divided into three groups; control (43 subjects), prehypertensive (38 subjects) and mild hypertensive (23 subjects). An optimized droplet digital polymerase chain reaction (ddPCR) was used in the determination of CNV esv27061 in this study. Results: All subjects in the control (n=38; 88.4% gain), prehypertensive (n=33; 86.8% gain) and mild hypertensive (n=21; 91.3% gain) groups had CNV gain (copy number > 2) while 11.6% of control, 13.2% of prehypertensive and 8.7% of mild hypertensive subjects exhibited normal copies (copy number = 2). Conclusion: The present preliminary finding was consistent with the Database of Genomic Variants (DGV) which stated that CNV esv27061 showed more gain than loss.
    Matched MeSH terms: Disease Susceptibility
  3. Chronic mucocutaneous candidiasis with deficient CD2 (E receptor) but normal CD3 mononuclear cells
    Noh LM, Hussein SH, Sukumaran KD, Rose I, Abdullah N
    J Clin Lab Immunol, 1991 Jun;35(2):89-93.
    PMID: 1688166
    A case of chronic mucocutaneous candidiasis in a Malaysian child who subsequently developed disseminated tuberculosis and toxoplasmosis is described. The phenotype of her peripheral blood mononuclear cells showed discordance for her T cell markers. The presence of a subpopulation of CD2-/CD3+ mononuclear cells leading to an immunodeficiency state is consistent with failure of activation of CD2-mediated alternative pathway resulting in immunodeficiency. Such abnormal CD2-/CD3+ subpopulations have been described in lepromatous leprosy and foetal abortuses.
    Matched MeSH terms: Disease Susceptibility/immunology
  4. Fulltext Effect of sublethal dosages of malathion on the oral susceptibility of Aedes aegypti to dengue-2 virus infection
    Lee HL, Argubano RA, Ahmad R
    Southeast Asian J. Trop. Med. Public Health, 1997 Sep;28(3):664-5.
    PMID: 9561626
    Matched MeSH terms: Disease Susceptibility
  5. Fulltext First comprehensive in silico analysis of the functional and structural consequences of SNPs in human GalNAc-T1 gene
    Mohamoud HS, Hussain MR, El-Harouni AA, Shaik NA, Qasmi ZU, Merican AF, et al.
    Comput Math Methods Med, 2014;2014:904052.
    PMID: 24723968 DOI: 10.1155/2014/904052
    GalNAc-T1, a key candidate of GalNac-transferases genes family that is involved in mucin-type O-linked glycosylation pathway, is expressed in most biological tissues and cell types. Despite the reported association of GalNAc-T1 gene mutations with human disease susceptibility, the comprehensive computational analysis of coding, noncoding and regulatory SNPs, and their functional impacts on protein level, still remains unknown. Therefore, sequence- and structure-based computational tools were employed to screen the entire listed coding SNPs of GalNAc-T1 gene in order to identify and characterize them. Our concordant in silico analysis by SIFT, PolyPhen-2, PANTHER-cSNP, and SNPeffect tools, identified the potential nsSNPs (S143P, G258V, and Y414D variants) from 18 nsSNPs of GalNAc-T1. Additionally, 2 regulatory SNPs (rs72964406 and #x26; rs34304568) were also identified in GalNAc-T1 by using FastSNP tool. Using multiple computational approaches, we have systematically classified the functional mutations in regulatory and coding regions that can modify expression and function of GalNAc-T1 enzyme. These genetic variants can further assist in better understanding the wide range of disease susceptibility associated with the mucin-based cell signalling and pathogenic binding, and may help to develop novel therapeutic elements for associated diseases.
    Matched MeSH terms: Disease Susceptibility
  6. Cancer-associated fibroblasts of colorectal cancer and their markers: updates, challenges and translational outlook
    Musa M, Ali A
    Future Oncol, 2020 Oct;16(29):2329-2344.
    PMID: 32687721 DOI: 10.2217/fon-2020-0384
    Accumulation of cancer-associated fibroblasts (CAFs) in the tumor microenvironment is associated with poor prognosis and recurrence of colorectal cancer (CRC). Despite their prominent roles in colorectal carcinogenesis, there is a lack of robust and specific markers to classify the heterogeneous and highly complex CAF populations. This has resulted in confusing and misleading definitions of CAFs in cancer niche. Advancements in molecular biology approaches have open doors to reliable CAF marker detection methods in various solid tumors. These discoveries would contribute to more efficient screening, monitoring and targeted therapy of CRC thus potentially will reduce cancer morbidity and mortality rates. This review highlights current scenarios, dilemma, translational potentials of CAF biomarker and future therapeutic applications involving CAF marker identification in CRC.
    Matched MeSH terms: Disease Susceptibility
  7. Fulltext Exploration of risk taking behaviors and perceived susceptibility of colorectal cancer among Malaysian adults: a community based cross-sectional study
    Al-Dubai SA, Ganasegeran K, Alabsi AM, Shah SA, Razali FM, Arokiasamy JT
    BMC Public Health, 2013 Oct 07;13:930.
    PMID: 24093502 DOI: 10.1186/1471-2458-13-930
    BACKGROUND: Perceived susceptibility to an illness has been shown to affect Health-risk behavior. The objective of the present study was to determine the risk taking behaviors and the demographic predictors of perceived susceptibility to colorectal cancer in a population-based sample.

    METHODS: A cross-sectional study was carried out among 305 Malaysian adults in six major districts, selected from urban, semi-urban, and rural settings in one state in Malaysia. A self-administered questionnaire was used in this study. It was comprised of socio-demographics, risk-taking behaviors, and validated domains of the Health Belief Model (HBM).

    RESULTS: The mean (± SD) age of the respondents was 34.5 (± 9.6) and the majority (59.0%) of them were 30 years or older. Almost 20.7% of the respondents felt they were susceptible to colorectal cancer. Self-reported perceived susceptibility mirrored unsatisfactory screening behaviors owing to the lack of doctors' recommendation, ignorance of screening modalities, procrastination, and the perception that screening was unnecessary. Factors significantly associated with perceived susceptibility to colorectal cancer were gender (OR = 1.8, 95% CI 1.0-3.3), age (OR = 2. 2, 95% CI 1.2-4.0), ethnicity (OR = 0. 3, 95% CI 0.2-0.6), family history of colorectal cancer (OR = 3. 2, 95% CI 1.4-7.4) and alcohol intake (OR = 3.9, 95% CI 2.1-7.5).

    CONCLUSION: The present study revealed that screening behavior among respondents was unsatisfactory. Hence, awareness of the importance of screening to prevent colorectal cancers is imperative.

    Matched MeSH terms: Disease Susceptibility*
  8. Fulltext Applying an evolutionary mismatch framework to understand disease susceptibility
    Lea AJ, Clark AG, Dahl AW, Devinsky O, Garcia AR, Golden CD, et al.
    PLoS Biol, 2023 Sep;21(9):e3002311.
    PMID: 37695771 DOI: 10.1371/journal.pbio.3002311
    Noncommunicable diseases (NCDs) are on the rise worldwide. Obesity, cardiovascular disease, and type 2 diabetes are among a long list of "lifestyle" diseases that were rare throughout human history but are now common. The evolutionary mismatch hypothesis posits that humans evolved in environments that radically differ from those we currently experience; consequently, traits that were once advantageous may now be "mismatched" and disease causing. At the genetic level, this hypothesis predicts that loci with a history of selection will exhibit "genotype by environment" (GxE) interactions, with different health effects in "ancestral" versus "modern" environments. To identify such loci, we advocate for combining genomic tools in partnership with subsistence-level groups experiencing rapid lifestyle change. In these populations, comparisons of individuals falling on opposite extremes of the "matched" to "mismatched" spectrum are uniquely possible. More broadly, the work we propose will inform our understanding of environmental and genetic risk factors for NCDs across diverse ancestries and cultures.
    Matched MeSH terms: Disease Susceptibility
  9. Fulltext Stearoyl CoA Desaturase Is Essential for Regulation of Endoplasmic Reticulum Homeostasis and Tumor Growth in Glioblastoma Cancer Stem Cells
    Pinkham K, Park DJ, Hashemiaghdam A, Kirov AB, Adam I, Rosiak K, et al.
    Stem Cell Reports, 2019 04 09;12(4):712-727.
    PMID: 30930246 DOI: 10.1016/j.stemcr.2019.02.012
    Inherent plasticity and various survival cues allow glioblastoma stem-like cells (GSCs) to survive and proliferate under intrinsic and extrinsic stress conditions. Here, we report that GSCs depend on the adaptive activation of ER stress and subsequent activation of lipogenesis and particularly stearoyl CoA desaturase (SCD1), which promotes ER homeostasis, cytoprotection, and tumor initiation. Pharmacological targeting of SCD1 is particularly toxic due to the accumulation of saturated fatty acids, which exacerbates ER stress, triggers apoptosis, impairs RAD51-mediated DNA repair, and achieves a remarkable therapeutic outcome with 25%-100% cure rate in xenograft mouse models. Mechanistically, divergent cell fates under varying levels of ER stress are primarily controlled by the ER sensor IRE1, which either promotes SCD1 transcriptional activation or converts to apoptotic signaling when SCD1 activity is impaired. Taken together, the dependence of GSCs on fatty acid desaturation presents an exploitable vulnerability to target glioblastoma.
    Matched MeSH terms: Disease Susceptibility
  10. Fulltext Dietary Acid Load, IGF-1 Single Nucleotide Polymorphism and Bone Resorption among Postmenopausal Chinese Women
    Lim SY, Zalilah MS, Chin YS, Ramachandran V, Chan YM
    Nutrients, 2018 Jul 17;10(7).
    PMID: 30018240 DOI: 10.3390/nu10070915
    The interaction of dietary and genetic factors may affect the development of bone deterioration. This study investigated whether the effects of dietary acid load (DAL) on bone loss in postmenopausal Chinese women were moderated by the insulin-like growth factor-1 (IGF-1) single nucleotide polymorphism, a known gene that plays a role in the regulation of bone formation and bone remodeling. A total of 217 healthy participants were recruited from the National Council of Senior Citizens Organizations Malaysia. Serum collagen type 1 cross-linked C-telopeptide was used as a surrogate bone marker to assess bone resorption and Agena® MassARRAY genotyping analysis was used to identify the signaling of IGF-1 rs35767. The dietary acid load was measured by potential renal acid load score while physical activity was ascertained using the Global Physical Activity Questionnaire. Hierarchical regression was applied to test the main and interaction effects of DAL and IGF-1 genotypes in bone resorption. The result supported the diet-dependent acid-base balance theory that higher DAL was positively associated with bone resorption (β = 0.152, p = 0.031, F(6,207) = 2.11, sig-F = 0.036, R² = 0.079). However, the results indicated that there was no significant correlation between IGF-1 and bone resorption, or any significant interaction between DAL and IGF-1. In conclusion, there was no moderating effect of IGF-1 on the relationship between DAL and bone resorption.
    Matched MeSH terms: Disease Susceptibility
  11. Fulltext Understanding Lung Carcinogenesis from a Morphostatic Perspective: Prevention and Therapeutic Potential of Phytochemicals for Targeting Cancer Stem Cells
    Heng WS, Kruyt FAE, Cheah SC
    Int J Mol Sci, 2021 May 27;22(11).
    PMID: 34071790 DOI: 10.3390/ijms22115697
    Lung cancer is still one of the deadliest cancers, with over two million incidences annually. Prevention is regarded as the most efficient way to reduce both the incidence and death figures. Nevertheless, treatment should still be improved, particularly in addressing therapeutic resistance due to cancer stem cells-the assumed drivers of tumor initiation and progression. Phytochemicals in plant-based diets are thought to contribute substantially to lung cancer prevention and may be efficacious for targeting lung cancer stem cells. In this review, we collect recent literature on lung homeostasis, carcinogenesis, and phytochemicals studied in lung cancers. We provide a comprehensive overview of how normal lung tissue operates and relate it with lung carcinogenesis to redefine better targets for lung cancer stem cells. Nine well-studied phytochemical compounds, namely curcumin, resveratrol, quercetin, epigallocatechin-3-gallate, luteolin, sulforaphane, berberine, genistein, and capsaicin, are discussed in terms of their chemopreventive and anticancer mechanisms in lung cancer and potential use in the clinic. How the use of phytochemicals can be improved by structural manipulations, targeted delivery, concentration adjustments, and combinatorial treatments is also highlighted. We propose that lung carcinomas should be treated differently based on their respective cellular origins. Targeting quiescence-inducing, inflammation-dampening, or reactive oxygen species-balancing pathways appears particularly interesting.
    Matched MeSH terms: Disease Susceptibility*
  12. An analysis of vulnerability to HIV in Papua New Guinea
    Chen PC
    Pac Health Dialog, 2001 Mar;8(1):166-75.
    PMID: 12017819
    Matched MeSH terms: Disease Susceptibility
  13. Fulltext The Relationship between Vitamin K and Osteoarthritis: A Review of Current Evidence
    Chin KY
    Nutrients, 2020 Apr 25;12(5).
    PMID: 32344816 DOI: 10.3390/nu12051208
    Vitamin K is a cofactor of γ-glutamyl carboxylase, which plays an important role in the activation of γ-carboxyglutamate (gla)-containing proteins that negatively regulate calcification. Thus, vitamin K status might be associated with osteoarthritis (OA), in which cartilage calcification plays a role in the pathogenesis of the disease. This review collates the evidence on the relationship between vitamin K status (circulating or dietary intake level of vitamin K, or circulating uncarboxylated gla proteins) and OA from human observational studies and clinical trial, to examine its potential as an agent in preventing OA. The current literature generally agrees that a sufficient level of vitamin K is associated with a lower risk of OA and pathological joint features. However, evidence from clinical trials is limited. Mechanistic study shows that vitamin K activates matrix gla proteins that inhibit bone morphogenetic protein-mediated cartilage calcification. Gla-rich proteins also inhibit inflammatory cascade in monocytic cell lines, but this function might be independent of vitamin K-carboxylation. Although the current data are insufficient to establish the optimal dose of vitamin K to prevent OA, ensuring sufficient dietary intake seems to protect the elderly from OA.
    Matched MeSH terms: Disease Susceptibility
  14. Hereditary ovalocytosis and reduced susceptibility to malaria in Papua New Guinea
    Cattani JA, Gibson FD, Alpers MP, Crane GG
    Trans R Soc Trop Med Hyg, 1987;81(5):705-9.
    PMID: 3329776
    Ovalocytosis, an hereditary condition in which most erythrocytes are oval in shape, is a polymorphism that occurs in up to 20% or more of the population in Papua New Guinea and Malaysia. Due to the geographical correlation of the trait with endemic malaria, the possibility of a selective advantage in resistance to malaria has been raised. In a study of 202 individuals with greater than or equal to 50% oval red cells matched by age, sex and village of residence with controls having less than or equal to 30% oval cells, ovalocytic subjects had blood films negative for Plasmodium vivax (P = 0.009), for P. falciparum (P = 0.044), and for all species of malaria parasites (P = 0.013), more often than controls. Among individuals parasitaemic at any time there were no clear differences in density of parasitaemia. However, in children 2 to 4 years old, parasite densities of both species were lower in ovalocytic subjects than in controls (0.01 less than P less than 0.025). The differential susceptibility to malaria infection suggested by this study has implications for the evaluation of interventions, including possible future vaccine field trials, in populations where high-frequency ovalocytosis is present.
    Matched MeSH terms: Disease Susceptibility
  15. Bacterial infections in pigs experimentally infected with Nipah virus
    Berhane Y, Weingartl HM, Lopez J, Neufeld J, Czub S, Embury-Hyatt C, et al.
    Transbound Emerg Dis, 2008 May;55(3-4):165-74.
    PMID: 18405339 DOI: 10.1111/j.1865-1682.2008.01021.x
    Nipah virus (NiV; Paramyxoviridae) caused fatal encephalitis in humans during an outbreak in Malaysia in 1998/1999 after transmission from infected pigs. Our previous study demonstrated that the respiratory, lymphatic and central nervous systems are targets for virus replication in experimentally infected pigs. To continue the studies on pathogenesis of NiV in swine, six piglets were inoculated oronasally with 2.5 x 10(5) PFU per animal. Four pigs developed mild clinical signs, one exudative epidermitis, and one neurologic signs due to suppurative meningoencephalitis, and was euthanized at 11 days post-inoculation (dpi). Neutralizing antibodies reached in surviving animals titers around 1280 at 16 dpi. Nasal and oro-pharyngeal shedding of the NiV was detected between 2 and 17 dpi. Virus appeared to be cleared from the tissues of the infected animals by 23 dpi, with low amount of RNA detected in submandibular and bronchial lymph nodes of three pigs, and olfactory bulb of one animal. Despite the presence of neutralizing antibodies, virus was isolated from serum at 24 dpi, and the viral RNA was still detected in serum at 29 dpi. Our results indicate slower clearance of NiV from some of the infected pigs. Bacteria were detected in the cerebrospinal fluid of five NiV inoculated animals, with isolation of Streptococcus suis and Enterococcus faecalis. Staphylococcus hyicus was isolated from the skin lesions of the animal with exudative epidermitis. Along with the observed lymphoid depletion in the lymph nodes of all NiV-infected animals, and the demonstrated ability of NiV to infect porcine peripheral blood mononuclear cells in vitro, this finding warrants further investigation into a possible NiV-induced immunosuppression of the swine host.
    Matched MeSH terms: Disease Susceptibility/veterinary
  16. Fulltext Comparison of the viability of probiotics from various cultured-milk drinks in a simulated pH study of the human gastrointestinal tract
    Ting, A.S.Y, DeCosta, J.L.
    International Food Research Journal, 2009;16(1):59-64.
    MyJurnal
    Different probiotic strains are incorporated into cultured-milk drinks by respective manufacturers with the common aim of providing health benefits to the consumers. Four common cultured-milk products (brands N, S, V and Y) were evaluated for their quality of probiotic strains used, based on the susceptibility of the probiotics to various pH levels simulated to mimic the gastrointestinal system. Results showed that brands Y and V have higher initial probiotic inoculum compared to brands N and S although probiotics from brands N and S were more tolerant to pH 3. Generally, all probiotic strains preferred higher pH with highest viability of Lactobacillus spp., Bifidobacterium spp., and Streptococcus thermophilus observed at pH 8.1. Our study also discovered that among the four brands tested, brand V contained probiotic strains which are most likely to remain viable after passage through the gastrointestinal system.
    Matched MeSH terms: Disease Susceptibility
  17. Fulltext Clinical Aspects of Janus Kinase (JAK) Inhibitors in the Cardiovascular System in Patients with Rheumatoid Arthritis
    Kotyla PJ, Islam MA, Engelmann M
    Int J Mol Sci, 2020 Oct 07;21(19).
    PMID: 33036382 DOI: 10.3390/ijms21197390
    Janus kinase (JAK) inhibitors, a novel class of targeted synthetic disease-modifying antirheumatic drugs (DMARDs), have shown their safety and efficacy in rheumatoid arthritis (RA) and are being intensively tested in other autoimmune and inflammatory disorders. Targeting several cytokines with a single small compound leads to blocking the physiological response of hundreds of genes, thereby providing the background to stabilize the immune response. Unfortunately, blocking many cytokines with a single drug may also bring some negative consequences. In this review, we focused on the activity of JAK inhibitors in the cardiovascular system of patients with RA. Special emphasis was put on the modification of heart performance, progression of atherosclerosis, lipid profile disturbance, and risk of thromboembolic complications. We also discussed potential pathophysiological mechanisms that may be responsible for such JAK inhibitor-associated side effects.
    Matched MeSH terms: Disease Susceptibility
  18. Fulltext Fractal-Fractional Mathematical Model Addressing the Situation of Corona Virus in Pakistan
    Shah K, Arfan M, Mahariq I, Ahmadian A, Salahshour S, Ferrara M
    Results Phys, 2020 Dec;19:103560.
    PMID: 33200064 DOI: 10.1016/j.rinp.2020.103560
    This work is the consideration of a fractal fractional mathematical model on the transmission and control of corona virus (COVID-19), in which the total population of an infected area is divided into susceptible, infected and recovered classes. We consider a fractal-fractional order

    SIR

    type model for investigation of Covid-19. To realize the transmission and control of corona virus in a much better way, first we study the stability of the corresponding deterministic model using next generation matrix along with basic reproduction number. After this, we study the qualitative analysis using "fixed point theory" approach. Next, we use fractional Adams-Bashforth approach for investigation of approximate solution to the considered model. At the end numerical simulation are been given by matlab to provide the validity of mathematical system having the arbitrary order and fractal dimension.
    Matched MeSH terms: Disease Susceptibility
  19. Fulltext An analysis of a nonlinear susceptible-exposed-infected-quarantine-recovered pandemic model of a novel coronavirus with delay effect
    Raza A, Ahmadian A, Rafiq M, Salahshour S, Ferrara M
    Results Phys, 2021 Feb;21:103771.
    PMID: 33391985 DOI: 10.1016/j.rinp.2020.103771
    In the present study, a nonlinear delayed coronavirus pandemic model is investigated in the human population. For study, we find the equilibria of susceptible-exposed-infected-quarantine-recovered model with delay term. The stability of the model is investigated using well-posedness, Routh Hurwitz criterion, Volterra Lyapunov function, and Lasalle invariance principle. The effect of the reproduction number on dynamics of disease is analyzed. If the reproduction number is less than one then the disease has been controlled. On the other hand, if the reproduction number is greater than one then the disease has become endemic in the population. The effect of the quarantine component on the reproduction number is also investigated. In the delayed analysis of the model, we investigated that transmission dynamics of the disease is dependent on delay terms which is also reflected in basic reproduction number. At the end, to depict the strength of the theoretical analysis of the model, computer simulations are presented.
    Matched MeSH terms: Disease Susceptibility
  20. Long-Term Health Outcome and Quality of Life Post-HSCT for IL7Rα-, Artemis-, RAG1- and RAG2-Deficient Severe Combined Immunodeficiency: a Single Center Report
    Abd Hamid IJ, Slatter MA, McKendrick F, Pearce MS, Gennery AR
    J Clin Immunol, 2018 08;38(6):727-732.
    PMID: 30105620 DOI: 10.1007/s10875-018-0540-9
    Hematopoietic stem cell transplantation (HSCT) is curative for severe combined immunodeficiency (SCID), but data on long-term impact of pre-HSCT chemotherapy, immune reconstitution and quality of life (QoL) of specific SCID genotypes are limited. We evaluated the long-term immune-reconstitution, health outcome and QoL in IL7Rα SCID, Artemis and RAG1 and 2 SCID survivors > 2 years post-HSCT in our center. Clinical data and immune reconstitution parameters were collated, and patients/families answered PedsQL generic core scale v4.0 questionnaires. Thirty-nine patients with a diagnosis of IL7Rα SCID (17 patients), Artemis SCID (8 patients) and RAG1/2 SCID (13 patients) had undergone HSCT with median age at last follow up for IL7Rα SCID, 14 years (range 4-27) and Artemis and RAG1/2 SCID, 10 years (range 2-18). Many patients have ongoing medical issues at latest follow-up [IL7Rα (73%), Artemis (85%), RAG1/2 (55%)]. Artemis SCID patients experienced more sequela than RAG1/2 SCID. Conditioned recipients with Artemis and RAG SCID had more CD4+ naïve lymphocytes compared to unconditioned recipients. All patients except those of IL7Rα SCID reported lower QoL; further subset group analysis showed parents and Artemis and RAG1/2 survivors without ongoing medical issues reported normal QoL. Conditioned recipients have superior long-term thymopoiesis, chimerism and immunoglobulin-independence. QoL was normal in those who did not have medical issues at long-term follow-up.
    Matched MeSH terms: Disease Susceptibility
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