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Protein O-linked mannose (O-Man) glycosylation is an evolutionary conserved posttranslational modification that fulfills important biological roles during embryonic development. Three nonredundant enzyme families, POMT1/POMT2, TMTC1-4, and TMEM260, selectively coordinate the initiation of protein O-Man glycosylation on distinct classes of transmembrane proteins, including α-dystroglycan, cadherins, and plexin receptors. However, a systematic investigation of their substrate specificities is lacking, in part due to the ubiquitous expression of O-Man glycosyltransferases in cells, which precludes analysis of pathway-specific O-Man glycosylation on a proteome-wide scale. Here, we apply a targeted workflow for membrane glycoproteomics across five human cell lines to extensively map O-Man substrates and genetically deconstruct O-Man initiation by individual and combinatorial knockout of O-Man glycosyltransferase genes. We established a human cell library for the analysis of substrate specificities of individual O-Man initiation pathways by quantitative glycoproteomics. Our results identify 180 O-Man glycoproteins, demonstrate new protein targets for the POMT1/POMT2 pathway, and show that TMTC1-4 and TMEM260 pathways widely target distinct Ig-like protein domains of plasma membrane proteins involved in cell-cell and cell-extracellular matrix interactions. The identification of O-Man on Ig-like folds adds further knowledge on the emerging concept of domain-specific O-Man glycosylation which opens for functional studies of O-Man-glycosylated adhesion molecules and receptors.
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Manose , Humanos , Glicosilação , Manose/metabolismo , Especificidade por Substrato , Glicoproteínas/metabolismo , Proteômica/métodos , Linhagem Celular , Glicosiltransferases/metabolismo , Glicosiltransferases/genética , Processamento de Proteína Pós-Traducional , Engenharia Celular/métodosRESUMO
Gliomas are the most prevalent primary tumor of the central nervous system. Despite advances in imaging technologies, neurosurgical techniques, and radiotherapy, a cure for high-grade glioma remains elusive. Several groups have reported that protein tyrosine phosphatase receptor type Z (PTPRZ) is highly expressed in glioblastoma, and that targeting PTPRZ attenuates tumor growth in mice. PTPRZ is modified with diverse glycan, including the PTPRZ-unique human natural killer-1 capped O-mannosyl core M2 glycans. However, the regulation and function of these unique glycans are unclear. Using CRISPR genome-editing technology, we first demonstrated that disruption of the PTPRZ gene in human glioma LN-229 cells resulted in profoundly reduced tumor growth in xenografted mice, confirming the potential of PTPRZ as a therapeutic target for glioma. Furthermore, multiple glycan analyses revealed that PTPRZ derived from glioma patients and from xenografted glioma expressed abundant levels of human natural killer-1-capped O-Man glycans via extrinsic signals. Finally, since deficiency of O-Man core M2 branching enzyme N-acetylglucosaminyltransferase IX (GnT-IX) was reported to reduce PTPRZ protein levels, we disrupted the GnT-IX gene in LN-229 cells and found a significant reduction of glioma growth both in vitro and in the xenograft model. These results suggest that the PTPR glycosylation enzyme GnT-IX may represent a promising therapeutic target for glioma.
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Glioma , N-Acetilglucosaminiltransferases , Proteínas Tirosina Fosfatases Classe 5 Semelhantes a Receptores , Animais , Humanos , Camundongos , Encéfalo/enzimologia , Encéfalo/fisiopatologia , Glioma/fisiopatologia , N-Acetilglucosaminiltransferases/genética , N-Acetilglucosaminiltransferases/metabolismo , Polissacarídeos/metabolismo , Linhagem Celular Tumoral , Feminino , Camundongos SCID , Proteínas Tirosina Fosfatases Classe 5 Semelhantes a Receptores/deficiência , Proteínas Tirosina Fosfatases Classe 5 Semelhantes a Receptores/metabolismo , Técnicas de Silenciamento de GenesRESUMO
BACKGROUND: Hematopoietic stem cell transplantation (HSCT) is a curative treatment for certain inborn errors of immunity. METHODS: A 17-year retrospective cohort study was conducted on 40 immunodeficient patients who underwent HSCT. RESULTS: The median age at transplant was 11.0 months (4.6-61.0). Donors were primarily matched sibling donors (60%). 90% and 85% of patients received conditioning and graft-versus-host disease (GVHD) prophylaxis, respectively. The mean donor chimerism at the last follow-up was 88.6% ± 17.9% (40-100). Median serum immunoglobulin (Ig) G level, CD4+ T-cell count, and CD19+ B-cell count were 11.7 g/L (9.2-13.6), 0.9 × 109/L 0.6-1.2), and 0.5 × 109/L (0.2-0.7), respectively. 29 patients (72.5%) received intravenous immunoglobulins (IVIG) therapy, with a median duration of 10.0 months (4.0-14.0). The median post-transplant follow-up was 6.5 years (IQR:1.4-11.5). The 10-year overall probability of survival is 84.3%. CONCLUSION: Monitoring IRC is important in ensuring adequate disease-free survival.
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Doença Enxerto-Hospedeiro , Transplante de Células-Tronco Hematopoéticas , Reconstituição Imune , Humanos , Transplante de Células-Tronco Hematopoéticas/métodos , Masculino , Feminino , Estudos Retrospectivos , Lactente , Doença Enxerto-Hospedeiro/imunologia , Pré-Escolar , Omã , Condicionamento Pré-Transplante/métodos , Imunoglobulinas Intravenosas/uso terapêutico , Imunoglobulina G/sangue , Linfócitos B/imunologiaRESUMO
BACKGROUND: Children and adolescents diagnosed with cancer often experience psychological distress, encompassing anxiety, depression, and post-traumatic stress disorder (PTSD). This study aimed to evaluate the prevalence of these conditions among Omani children and adolescents diagnosed with cancer, alongside identifying contributing factors. METHODS: A prospective cross-sectional study was conducted from October 2021 to June 2023 among a cohort of Omani children and adolescents (6-18 years old) diagnosed with cancer at three primary cancer referral centres in Oman. Validated Arabic-language versions of the Screen for Child Anxiety Related Disorders, the Center for Epidemiologic Studies Depression Scale for Children, and the Impact of Event Scale-Revised instruments were used to assess symptoms of anxiety, depression, and PTSD, respectively. An initial assessment (T1) was undertaken within the first 3 months of diagnosis, followed by a second assessment (T2) 3-6 months later. RESULTS: Of 113 eligible participants, 101 agreed to participate in the study (response rate: 95.6%), with 92 (91.0%) completing both assessments and included in the final analysis. Prevalence rates of anxiety, depression, and PTSD decreased from 43.5%, 56.5%, and 32.6%, respectively, at T1, to 38.0%, 35.9%, and 23.9% at T2. All average scores were below diagnostic cut-off points, except for the depression score at T1. Anxiety and depression scores decreased significantly (p = 0.043 and 0.001, respectively) between T1 and T2, as did the overall prevalence of depression (p = 0.004). At T1, linear regression analysis showed significant correlations between anxiety scores and the child's age and PTSD score (p < 0.05); these variables were also correlated with depression scores (p ≤ 0.001). At T2, significant correlations were observed between anxiety scores and the child's age and PTSD scores (p < 0.001). At both T1 and T2, anxiety, depression, and PTSD scores remained significantly correlated (p < 0.001). CONCLUSIONS: Omani children and adolescents recently diagnosed with cancer exhibit a high prevalence of anxiety, depression, and PTSD over time. Age-appropriate communication, ongoing support, and mental health services are recommended to help this patient group cope with their diagnosis and manage their emotional wellbeing. There is a need for future research to determine the effectiveness of specific psychological interventions in reducing the frequency of these disorders.
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Ansiedade , Depressão , Neoplasias , Transtornos de Estresse Pós-Traumáticos , Humanos , Transtornos de Estresse Pós-Traumáticos/epidemiologia , Transtornos de Estresse Pós-Traumáticos/psicologia , Transtornos de Estresse Pós-Traumáticos/diagnóstico , Criança , Adolescente , Masculino , Feminino , Estudos Transversais , Estudos Prospectivos , Omã/epidemiologia , Prevalência , Neoplasias/psicologia , Neoplasias/epidemiologia , Ansiedade/epidemiologia , Depressão/epidemiologiaRESUMO
BACKGROUND: Contagious caprine pleuropneumonia (CCPP) is a fatal WOAH-listed, respiratory disease in small ruminants with goats as primary hosts that is caused by Mycoplasma capricolum subspecies capripneumoniae (Mccp). Twelve CCPP outbreaks were investigated in 11 goat herds and a herd of captive Arabian sand gazelle (Gazella marica) in four Omani governorates by clinical pathological and molecular analysis to compare disease manifestation and Mccp genetic profiles in goats and wild ungulates. RESULTS: The CCPP forms in diseased and necropsied goats varied from peracute (5.8%), acute (79.2%) and chronic (4.5%) while all of the five necropsied gazelles showed the acute form based on the clinical picture, gross and histopathological evaluation. Colonies of Mccp were recovered from cultured pleural fluid, but not from lung tissue samples of one gazelle and nine goats and all the isolates were confirmed by Mccp-specific real time PCR. Whole genome-single nucleotide polymorphism (SNP) analysis was performed on the ten isolates sequenced in this study and twenty sequences retrieved from the Genbank database. The Mccp strains from Oman clustered all in phylogroup A together with strains from East Africa and one strain from Qatar. A low variability of around 125 SNPs was seen in the investigated Omani isolates from both goats and gazelles indicating mutual transmission of the pathogen between wildlife and goats. CONCLUSION: Recent outbreaks of CCPP in Northern Oman are caused by Mccp strains of the East African Phylogroup A which can infect goats and captive gazelles likewise. Therefore, wild and captive ungulates should be considered as reservoirs and included in CCPP surveillance measures.
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Antílopes , Surtos de Doenças , Doenças das Cabras , Cabras , Mycoplasma capricolum , Pleuropneumonia Contagiosa , Animais , Doenças das Cabras/epidemiologia , Doenças das Cabras/microbiologia , Pleuropneumonia Contagiosa/epidemiologia , Pleuropneumonia Contagiosa/microbiologia , Omã/epidemiologia , Mycoplasma capricolum/genética , Surtos de Doenças/veterinária , Polimorfismo de Nucleotídeo Único , Epidemiologia Molecular , FilogeniaRESUMO
BACKGROUND: There is increasing evidence that a companionship is an important tool for improving the quality of care provided to pregnant women during the labour and delivery process. The literature review shows very limited studies assessing the role of companions during childbirth from the companion's point of view. Many published papers studied the role and satisfaction of pregnant women but not their companions. Therefore, this study aimed to assess the role and effect of companions during childbirth in Oman. METHODS: This cross-sectional observational study was conducted at Sultan Qaboos University Hospital, Oman, between June 2022 and April 2023. Companions were interviewed face-to-face at a time convenient to them. A telephone interview was conducted with those who left the hospital early. The questionnaire comprised sociodemographic data and other sections, including the nature of the help provided by the supportive companion, their effects on the women who gave birth, and the timing of their presence during companionship. RESULTS: A total of 214 companions were included in this study with the mean age of 42.54 years. The most common relationship to the pregnant women was mothers (35.7%), followed by husbands (30.5%). The majority of companions provided support during admission (62.6%), in the immediate post-partum ward (56.5%) and during delivery (54.2%), while a minority helped from admission to discharge (22.4%). The most common type of support provided was encouraging words (89.7%) followed by transferring things (43.9%), massage (37.4%) and touch (33.6%). The majority of companions (96.7%) reported that their support helped very much, and the pregnant women felt better and calmer. CONCLUSIONS: Labouring women felt better and calmer because of the presence of companions. Companions preferred to be present in the postpartum and during labour and delivery. The majority of companions support their labouring women by encouraging wards. Companions love and encourage others to support their labouring women during their critical times.
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Emoções , Hospitalização , Gravidez , Humanos , Feminino , Adulto , Omã , Estudos Transversais , Hospitais UniversitáriosRESUMO
OBJECTIVES: To assess knowledge, attitudes, and practices regarding cervical cancer and Pap smear screening among Omani women attending a tertiary clinic in Muscat, Oman, and to establish correlations with selected sociodemographic factors. METHODS: An observational, cross-sectional study was carried out among Omani women aged 18-50 years old attending the outpatient clinic of the Department of Obstetrics and Gynecology, Sultan Qaboos University Hospital, from October 2019 to February 2020. A validated Arabic-language questionnaire was utilized to collect data regarding the participants' sociodemographic characteristics, their knowledge of cervical cancer and related risk factors, and their knowledge, attitudes, and practices related to cervical cancer screening and Pap smear testing. RESULTS: Of the 380 respondents, 86 and 55% had previously heard of cervical cancer and Pap smear testing, respectively; however, only 26% were knowledgeable concerning these topics. Knowledge scores were significantly associated with various sociodemographic factors, including marital status and a previous awareness of cervical cancer (odds ratio: > 1, p < 0.05). Only 21% had themselves previously undergone Pap smear testing; however, 75% reported being willing to undergo such screening in future. CONCLUSIONS: Knowledge regarding cervical cancer-related risk factors and Pap smear screening was poor among a cohort of Omani women attending a tertiary clinic in Muscat, Oman. This may play a role in the increased frequency of cervical cancer cases observed in Oman over recent years. As such, a well-structured public education program is recommended to raise awareness of this issue.
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Neoplasias do Colo do Útero , Esfregaço Vaginal , Feminino , Humanos , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Teste de Papanicolaou , Neoplasias do Colo do Útero/diagnóstico , Neoplasias do Colo do Útero/prevenção & controle , Estudos Transversais , Detecção Precoce de Câncer , Conhecimentos, Atitudes e Prática em Saúde , Hospitais de Ensino , Inquéritos e Questionários , Programas de RastreamentoRESUMO
The prevalence of cancer is expected to increase worldwide for reasons related to a lack of awareness of cancer prevention, diagnosis, and treatment. Implementing cancer education programs in schools in the developing countries with similar demographic, economic, and health transition to that of Oman is crucial for enhancing students' cancer knowledge and promoting healthy behavior. This study aims to explore the perceptions of education, policymakers, and teachers regarding the inclusion of cancer education in secondary school curriculum. The study employed a qualitative method, conducting semi-structured interviews with ten education policymakers and ten school teachers. Interviews were audio recorded, transcribed, and analyzed verbatim and qualitatively using the framework approach. Three main themes have emerged: (1) perception of the importance of cancer education inclusion within the school curriculum, (2) the perception of cancer education implementation in schools, and (3) the perceived challenges of introducing cancer education in schools. Policymakers and teachers in Oman recognize the importance of cancer education in schools and emphasized the need to prioritize it due to the increasing prevalence of the disease and the belief that negative lifestyle habits played a role in its increased prevalence. Implementing cancer education programs in schools is essential in improving students' knowledge of cancer and health behaviors. Collaboration between the department of school health in ministry of education and in ministry of health and incorporating cancer education into different school activities can be beneficial. However, the perceived challenges of cancer education in schools include the decision on the priority of cancer education among other topics, the required procedures to introduce cancer education in schools, and the financial and logistics obligations of implementing cancer education programs. Therefore, addressing the financial and logistic requirements is essential to overcome the associated challenges for implementing cancer education programs within the school curriculum.
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AIM: Chronic wounds, defined as wounds that do not heal in a logical set of stages, impact patients' quality of life by disrupting their self-esteem, sleep, social interaction, work capacity, and psychological well-being. Chronic wounds are a prevalent problem in Oman due to the high number of patients with diabetes, sickle cell disease, road traffic accidents, and decubitus ulcer. Therefore, it is paramount to analyse the health-related quality of life (HRQOL) of these patients with chronic wounds. MATERIAL AND METHODS: An observational, cross-sectional, descriptive study with a quantitative approach was conducted among 275 adult patients with chronic wounds in three tertiary hospitals of Muscat from June to December 2021 using a self-reported Cardiff life wound impact questionnaire and the Bates-Jensen wound assessment tool. Data were analysed with IBM SPSS version 23 using inferential statistics and chi-square test. RESULTS: We found that the majority of participants were men (178; 64.7 %), aged between 41 and 60 years (107; 38.9 %), predominantly with diabetic wounds (80; 29.1 %). Respondents reported poor HRQOL across all domains: well-being (63.24 ± 18.092), physical (53.24 ± 18.387), and social (59.54 ± 19.025). Statistically significant poorer HRQOL was observed among the elderly above 60 years, illiterates, those with traumatic wounds, and those receiving medication and dressing as treatment. CONCLUSIONS: Our findings indicate that Omani patients with chronic wounds experience low HRQOL. It is imperative for healthcare providers to offer comprehensive care to these patients. To enhance their quality of life and alleviate suffering, evaluating both the wounds and HRQOL is essential. Such assessments will enable the optimisation of treatment and coping strategies for patients.
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Qualidade de Vida , Humanos , Masculino , Qualidade de Vida/psicologia , Omã , Feminino , Pessoa de Meia-Idade , Estudos Transversais , Adulto , Inquéritos e Questionários , Doença Crônica/psicologia , Ferimentos e Lesões/psicologia , IdosoRESUMO
The significant increase in the pollution of heavy metals and organic pollutants, their stable nature, and their high toxicity are gradually becoming a global crisis. In a recent study, a comprehensive assessment of the spatial distribution of heavy metals and total petroleum hydrocarbons (TPHs), as well as an assessment of their ecological risks in the sediments of 32 stations located in commercial and industrial areas (Mainly focusing on petrochemical and power industries, desalination plants and transit Ports) of Hormozgan province (East and West of Jask, Bandar Abbas, Qeshm, and Bandar Lengeh) was performed during 2021-2022. The sediment samples were digested with HNO3, HCl and HF solvents. The concentration of heavy metals was determined with furnace and flame systems of atomic absorption spectrometer. The concentration of heavy metals showed significant spatial changes between stations. The ecological assessment indices between the regions indicated that the stations located in Shahid Bahonar Port, Suru Beach, and Khor gorsouzuan had a higher intensity of pollution than other places and significant risks of pollution, especially in terms of Cr and Ni. The average contamination degree (CD) (14.89), modified contamination degree (MCD) (2.48), pollution load index (PLI) (2.32), and potential ecological risk index (PERI) (100.30) showed the sediments in the area of Shahid Bahonar Port, Suru beach and Khor gorsouzuan, experience significant to high levels of pollution, especially Cr and Ni. Using contamination factor (CF) and Geoaccumulation index (Igeo), Cr was considered the most dangerous metal in the studied areas. Based on the global classification of marine sediment quality for the concentrations of TPHs, the sediments of the studied stations were classified as non-polluted to low pollution. In all regions, indices of the PELq (General toxicity) and CF (Contamination factor) were much lower than 0.1 and 1 respectively, showing the absence of adverse biological effects caused by TPHs in sediments. It is necessary to consider comprehensive and impressive strategies to control and reduce pollution of heavy metals, especially in the areas of Shahid Bahonar Port, Suru Beach, and Khor gorsouzuan, so that the sources of this pollution are required to be identified and managed.
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Sedimentos Geológicos , Hidrocarbonetos , Metais Pesados , Petróleo , Poluentes Químicos da Água , Metais Pesados/análise , Sedimentos Geológicos/química , Sedimentos Geológicos/análise , Irã (Geográfico) , Medição de Risco , Hidrocarbonetos/análise , Poluentes Químicos da Água/análise , Petróleo/análise , Monitoramento Ambiental , Poluição por Petróleo/análiseRESUMO
INTRODUCTION: Anxiety, depression, and sleep disturbances among accident and emergency nurses not only harm their well-being but also affect patient care and organizational outcomes. This study examines anxiety, depression, and sleep prevalence and associations among accident and emergency nurses. METHODS: We conducted a cross-sectional correlational survey with 331 accident and emergency nurses in 12 Omani governmental hospitals. RESULTS: Results showed that 28.7% of accident and emergency nurses reported symptoms indicative of anxiety, with 13.6% experiencing symptoms of depression, 16.6% reporting mild sleep disturbances, and 1.5% experiencing moderate disturbance. Those with symptoms of anxiety (r = 0.183, P = .001) or depression (r = 0.152, P = .005) were more likely to experience sleep disturbances. Being single (t [170.7] = 2.5, P = .015), childless (t [169.7] = -2.807, P = .008), Omani (t [215] = 7.201, P < .001), younger (r = -0.375, P < .001) and having less clinical experience (t [329] = 4.6, P < .001) were associated with a higher anxiety score. For depression, being of Omani nationality (t [215] = 7.201, P < .001), having less than 10 years of experience (t [329] = 3.2, P =.002), and being of younger age (r = -0.285, P < .001) were associated with a higher score. DISCUSSION: Accident and emergency nurses commonly experience anxiety, depression, and sleep disturbances. Implementing interventions to promote their mental well-being or manage these issues is crucial. Organizational support is vital for ensuring their mental health, and individual-level interventions may also prove beneficial.
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BACKGROUND: Myiasis is a neglected disease, characterized by ill-defined diagnostics and management protocols. Published epidemiological and clinical studies of myiasis are still scarce, although several countries, such as Oman, have reported a few cases over the past 30 years. This study explores the epidemiological profile and clinical characteristics of myiasis in South Batinah Governorate (SBG), Oman. METHODOLOGY: A prospective surveillance study was conducted in SBG from 1st November 2018 to 31st October 2019. Clinical and epidemiological data were collected using a pre-designed reporting form for suspected and confirmed cases. RESULTS: A total of 188 cases were reported, of which 81.4% were male. One-third of cases were 11-20 years old, and a quarter reported exposure inside house. The rate of exposure was 16 per 10000 in Nakhal and Wadi Mawel. About 57% patients reported multiple re-exposure. Almost 60% of patients developed nasal or oral myiasis, 25% developed myiasis in the eye, and 4% in the ear. The most common respiratory symptoms were cough (83%), runny nose (48%), and foreign body sensation (35%). Over 50% of patients with eye exposures had redness, pain, and itchiness. Most patients (89.3%) kept animals at homes. Many cases occurred between December 2018 and April 2019, with almost one-third of exposures occurring at 5 p.m. Re-exposure likelihood for patients residing in Nakhal and Wadi Mawel was high; OR = 2.49 (95% CI 1.14-5.45), with OR = 3.59 (95% CI 1.37-9.39) for 11-20-year-olds and, OR = 3.01 (95% CI 1.07-8.42) for patients ≥ 31 years. CONCLUSION: The myiasis exposure rate is high in certain areas and age groups, which is most likely associated with animal-related activities. The disease has a significant impact upon people's health in SBG. Therefore, urgent active-surveillance and clinical studies are warranted to explore possible preventive measures and treatment options. Adopting one health approach could offer an effective strategy for preventing myiasis in human and animal populations.
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Background: Cervical cancer remains a global health challenge, claiming the lives of millions annually and having a significant impact on Gulf Cooperation Council (GCC) countries. Human papillomavirus (HPV), the primary causative agent, plays a central role, with regional variations in prevalence.1 The process from HPV infection to neoplastic changes takes 5-25 years to occur, hence, knowing its prevalence in our community is vital.2. Methods: PubMed and SCOPUS were searched to identify articles related to cervical and anogenital HPV prevalence and genotypes in Qatar, Kuwait, Bahrain, Oman, the United Arab Emirates (UAE), and the Kingdom of Saudi Arabia (KSA) published between 2017 and 2024. Results: A total of 19 articles were included in this review. Eight studies were from KSA, four were from Kuwait, three were from the UAE, one was from Qatar, Oman, and Bahrain, and one presented data collectively from the KSA, UAE, Qatar, and Bahrain. The prevalence of HPV ranged between 4.7% and 77% in studies from the KSA, between 15% and 54.3% in studies from Kuwait, between 14.7% and 88% in studies from the UAE, was 8.1% and 31.3% in the two studies from Qatar, and was 17.8% and 20% in the studies from Oman and Bahrain, respectively. HPV 16 was the most prevalent high-risk genotype found in studies conducted in the KSA, UAE, Kuwait, and Qatar. In Oman, HPV 82 predominated. In Bahrain, the majority had other non-HPV 16/18/45 genotypes. In the UAE and Kuwait, HPV 11 was the predominant low-risk type, followed by HPV 6. In Qatar, HPV 81 was the most common low-risk type, followed by HPV 11. In Oman, HPV 54 was the most common low-risk type, followed by HPV 42. Conclusion: There are no studies with data on HPV prevalence and genotypes among women who have been vaccinated against HPV in GCC countries.
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Astrocytes are the most abundant glial cell type in the brain, where they participate in various homeostatic functions. Transcriptomically, diverse astrocyte subpopulations play distinct roles during development and disease progression. However, the biochemical identification of astrocyte subtypes, especially by membrane surface protein glycosylation, remains poorly investigated. Protein tyrosine phosphatase receptor type zeta (PTPRZ) is a highly expressed membrane protein in CNS glia cells that can be modified with diverse glycosylation, including the unique HNK-1 capped O-mannosyl (O-Man) core M2 glycan mediated by brain-specific branching enzyme GnT-IX. Although PTPRZ modified with HNK-1 capped O-Man glycans (HNK-1-O-Man+ PTPRZ) is increased in reactive astrocytes of demyelination model mice, whether such astrocytes emerge in a broad range of disease-associated conditions or are limited to conditions associated with demyelination remains unclear. Here, we show that HNK-1-O-Man+ PTPRZ localizes in hypertrophic astrocytes of damaged brain areas in patients with multiple sclerosis. Furthermore, we show that astrocytes expressing HNK-1-O-Man+ PTPRZ are present in two demyelination mouse models (cuprizone-fed mice and a vanishing white matter disease model), while traumatic brain injury does not induce glycosylation. Administration of cuprizone to Aldh1l1-eGFP and Olig2KICreER/+ ;Rosa26eGFP mice revealed that cells expressing HNK-1-O-Man+ PTPRZ are derived from cells in the astrocyte lineage. Notably, GnT-IX but not PTPRZ mRNA was up-regulated in astrocytes isolated from the corpus callosum of cuprizone model mice. These results suggest that the unique PTPRZ glycosylation plays a key role in the patterning of demyelination-associated astrocytes.
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Astrócitos , Doenças Desmielinizantes , Animais , Camundongos , Astrócitos/metabolismo , Encéfalo/metabolismo , Cuprizona/toxicidade , Cuprizona/metabolismo , Doenças Desmielinizantes/induzido quimicamente , Doenças Desmielinizantes/genética , Modelos Animais de Doenças , Glicosilação , Camundongos Endogâmicos C57BL , Polissacarídeos/metabolismo , Proteínas Tirosina Fosfatases/metabolismoRESUMO
PURPOSE: Early identification of inborn errors of immunity (IEIs) is crucial due to the significant risk of morbidity and mortality. This study aimed to describe the genetic causes, clinical features, and survival rate of IEIs in Omani patients. METHODS: A prospective study of all Omani patients evaluated for immunodeficiency was conducted over a 17-year period. Clinical features and diagnostic immunological findings were recorded. Targeted gene testing was performed in cases of obvious immunodeficiency. For cases with less conclusive phenotypes, a gene panel was performed, followed by whole-exome sequencing if necessary. RESULTS: A total of 185 patients were diagnosed with IEIs during the study period; of these, 60.5% were male. Mean ages at symptom onset and diagnosis were 30.0 and 50.5 months, respectively. Consanguinity and a family history of IEIs were present in 86.9% and 50.8%, respectively. Most patients presented with lower respiratory infections (65.9%), followed by growth and development manifestations (43.2%). Phagocytic defects were the most common cause of IEIs (31.9%), followed by combined immunodeficiency (21.1%). Overall, 109 of 132 patients (82.6%) who underwent genetic testing received a genetic diagnosis, while testing was inconclusive for the remaining 23 patients (17.4%). Among patients with established diagnoses, 37 genes and 44 variants were identified. Autosomal recessive inheritance was present in 81.7% of patients with gene defects. Several variants were novel. Intravenous immunoglobulin therapy was administered to 39.4% of patients and 21.6% received hematopoietic stem cell transplantation. The overall survival rate was 75.1%. CONCLUSION: This study highlights the genetic causes of IEIs in Omani patients. This information may help in the early identification and management of the disease, thereby improving survival and quality of life.
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Síndromes de Imunodeficiência , Qualidade de Vida , Masculino , Humanos , Feminino , Estudos Prospectivos , Testes Genéticos , Fenótipo , Consanguinidade , Síndromes de Imunodeficiência/genéticaRESUMO
BACKGROUND: COVID-19 pandemic was declared by WHO in March 2020. Severity of disease varied from asymptomatic to fatal infection. Severe disease was found to be associated with hyperinflammation syndrome. Systemic lupus erythematosus (SLE) is treated with various immunosuppressive agents, intensity of which depends on the severity of the disease. We aimed to study the characteristic of SLE patients infected with COVID-19. METHODS: 352 patients with SLE were included in this observational cross-section study conducted over a 30-month period beginning from 24th February 2020 (first COVID cases documented in Oman) until end of July 2022. Data were retrieved from electronic medical records and through questionnaire handed to patients in OPD or filled through phone calls. RESULTS: 40.6% of SLE patients developed COVID-19 infection with mean age of 37 years and maintaining their male to female ratio as in SLE disease. Majority of the patients in both COVID-infected and non-infected groups had SLE disease activity of zero. Sore throat and cough were present in almost all patients. Other common symptoms were myalgia/arthralgia (94%) followed by fever. Significant difference between the groups was in severity of SLE and in lung involvement. No difference was noted between the two groups in other parameters including regarding the frequency of medication. CONCLUSIONS: This is the first study of COVID-19 in SLE patients in the Gulf Council Countries (GCCs). A significant difference between COVID-infected and uninfected groups was seen in the SLE disease activity and whether lung was involved in the SLE patients. We found no impact for DM, HTN, BMI, IHD, lupus nephrites of SLE medication on COVID-19 infection.
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COVID-19 , Lúpus Eritematoso Sistêmico , Humanos , Masculino , Feminino , Adulto , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/tratamento farmacológico , Lúpus Eritematoso Sistêmico/epidemiologia , COVID-19/complicações , Pandemias , Imunossupressores/uso terapêutico , HospitaisRESUMO
ABSTRACTWe used routinely collected programme data on people living with HIV in Oman who started ART in 2014-2018 to assess retention on ART, viral suppression, attrition (mortality or loss to follow-up [LTFU]) and treatment failure (attrition or HIV viral load of > 1000 copies/mL) 12 months after antiretroviral therapy (ART) initiation. We identified 726 patients; 72% were male. Overall, 12 months retention on ART and viral suppression (intention-to-treat [ITT] analysis) were 85.7% and 74.5%, respectively. Attrition occurred in 14.3% (mortality of 7% and LTFU of 7.3%). Retention increased from 78.8% (93/118) to 90.6% (144/159) among patients who started ART in 2014 and 2018, respectively. Similarly, ITT and on-treatment analyses revealed that viral suppression 12 months after ART initiation increased from 57.6% (68/118) and 73.1% (68/93) among patients who initiated therapy in 2014-80.5% (128/159) and 88.8% (128/144) among patients started treatment in 2018, respectively. On multivariate analysis, older age, having "Other" as an HIV risk factor (compared to heterosexual) and receiving HIV care outside the capital Muscat independently predicted both attrition and treatment failure. Our findings have been useful in identifying factors at the individual and programme level that influenced the risk of attrition and treatment failure.
Assuntos
Fármacos Anti-HIV , Infecções por HIV , Humanos , Masculino , Feminino , Omã/epidemiologia , Fármacos Anti-HIV/uso terapêutico , Resultado do Tratamento , Oriente Médio , Estudos RetrospectivosRESUMO
INTRODUCTION: ß-thalassemia's are hereditary chronic hemolytic diseases, the mainstay of treatment of thalassemia major is regular blood transfusion and iron chelation. They cause many complications, one of the recognized complications related to respiratory system is pulmonary hypertension. Respiratory functions in those patients are not well studied in most of the world. The studies done to assess respiratory function are inconsistent, some found a predominantly restrictive pattern, others found obstructive pattern, and few found normal spirometry. The aim of this study was to assess the spirometric patterns in asymptomatic Omani patients with transfusion-dependent thalassemia using spirometry studies. METHODS: Transfusion-dependent thalassemia patients who are registered at Sultan Qaboos University Hospital who are > 15 years old and able to perform spirometry test were selected for the study after they signed the informed consent. All the patients were free of any respiratory disease. Spirometry was performed in all patients in the sitting position and FVC, FEV1, FEV1/FVC were obtained. RESULTS: Total number of thalassemia patients enrolled in the study was 37. 32 patients are suffering from thalassemia major and 5 are suffering from thalassemia intermedia. The mean age of our patients was 29.95 years. We found that 37.8 % of the patients showed normal spirometry. Most patients had abnormal spirometry (62.1 %). Of these, 35.1 % showed a restrictive pattern while 27 % showed obstructive pattern. CONCLUSION: Spirometry assessment of the lung function in thalassemia patients who are receiving regular transfusion showed that majority had abnormal spirometry results despite being asymptomatic from a respiratory point of view.
Assuntos
Talassemia beta , Humanos , Adulto , Adolescente , Omã , Centros de Atenção Terciária , Espirometria , PulmãoRESUMO
Coral reefs are highly biodiverse ecosystems, enriched by a range of biofouling species. Temporal variations in biofouling can affect ecosystem stability, but these diverse coral-associated communities remain underexplored in some regions. In the present study, biofouling assemblages of coral reefs in the Chabahar Bay were investigated during a summer monsoon at three deployment periods. In total, 26 taxa were identified with barnacles and polychaetes being the dominant taxa during the whole study. The coverage percentage was driven mostly by the encrusting taxa such as bryozoans and algae while biomass was determined by the dominance of shell-forming taxa. The results of PERMANOVA showed that the effects of the submersion period were significant on the assemblage structure. Biofouling assessment plays a pivotal role in safeguarding the intricate balance and long-term health of coral reef ecosystems. For a comprehensive understanding of biofouling dynamics and interactions with coral-associated species, conducting long-term studies is vital.
Assuntos
Antozoários , Incrustação Biológica , Animais , Recifes de Corais , Ecossistema , Biofilmes , PeixesRESUMO
BACKGROUND: The global outbreak of the COVID-19 pandemic resulted in significant changes in the delivery of health care services such as attendance of scheduled outpatient hospital appointments. This study aimed to evaluate the impact of COVID-19 on the rate and predictors of missed hospital appointment in the Sultanate of Oman. METHODS: A retrospective single-centre analysis was conducted to determine the effect of COVID-19 on missed hospital appointments at various clinics at The Royal Hospital (tertiary referral hospital) in Muscat, Sultanate of Oman. The study population included scheduled face-to-face and virtual appointments between January 2019 and March 2021. Logistic regression models were used with interaction terms (post COVID-19) to assess changes in the predictors of missed appointments. RESULTS: A total of 34, 3149 scheduled appointments was analysed (320,049 face-to-face and 23,100 virtual). The rate of missed face-to-face hospital appointments increased from 16.9% pre to 23.8% post start of COVID-19, particularly in early pandemic (40.5%). Missed hospital appointments were more frequent (32.2%) in virtual clinics (post COVID-19). Increases in missed face-to-face appointments varied by clinic (Paediatrics from 19.3% pre to 28.2% post; Surgery from 12.5% to 25.5%; Obstetrics & Gynaecology from 8.4% to 8.5%). A surge in the frequency of missed appointments was seen during national lockdowns for face-to-face and virtual appointments. Most predictors of missed appointments did not demonstrate any appreciable changes in effect (i.e., interaction term not statistically significant). Distance of patient residence to the hospital revealed no discernible changes in the relative effect pre and post COVID-19 for both face-to-face and virtual clinic appointments. CONCLUSION: The rate of missed visits in most clinics was directly impacted by COVID-19. The case mix of patients who missed their appointments did not change. Virtual appointments, introduced after start of the pandemic, also had substantial rates of missed appointments and cannot be viewed as the single approach that can overcome the problem of missing hospital appointments.