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OBJECTIVE: To assess the association between clinical orthodontic indicators and oral-health-related quality of life, adjusted for socio-demographic factors, focusing on 16-year-old patients with cleft lip and/or palate (CL/P). PARTICIPANTS: One hundred and twenty-two patients with CL/P, representing cleft-lip (CL), cleft-palate (CP), unilateral/bilateral cleft-lip-palate (UCLP/BCLP), enrolled in the national CLP-Team, Bergen, Norway. METHOD: A cross-sectional study by two orthodontists assessing the number of teeth, intermaxillary sagittal relation (ANB-angle), dental arch and occlusion of 16-year-old patients with CL/P. All completed a digital questionnaire including self-reported socio-demographic variables, OHIP-14 questionnaire and dental aesthetics. Cross-tabulations with Pearson's Chi-square test were used to identify associations between self-reported OHRQoL and socio-demographic and clinical indicators. Multiple variable analyses were conducted with binary logistic regression analysis using the odds ratio (OR) and 95% confidence interval (CI) to assess associations between OHRQoL and clinical indicators adjusted for socio-demographic variables. Ethical approval was granted by the regional ethics committee. RESULTS: Patients with UCLP and BCLP had poorer clinical indicators compared to patients with CL and CP (p < 0.05). A total of 80% of the patients had OHIP-14 > 0. The highest oral impact was reported for psychological domains and articulation and the least for functional domains. Respondents with BCLP and those with poor intermaxillary relationships (ANB < 0°) reported a high impact on OHRQoL (p < 0.05). No statistically significant associations between other clinical indicators and socio-demographic variables such as gender, educational aspiration, and place of residence were reported. CONCLUSIONS: The study revealed an association between severe cleft diagnosis, missing teeth, misaligned teeth, negative overjet, and poor OHRQoL, but a statistically significant association was found only between OHRQoL and poor intermaxillary sagittal relations (unfavorable profile). To improve OHRQoL among patients with clefts, there is a need for an individual follow-up and prioritization of oral healthcare.
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Fenda Labial , Fissura Palatina , Saúde Bucal , Qualidade de Vida , Humanos , Fenda Labial/psicologia , Fissura Palatina/psicologia , Adolescente , Masculino , Feminino , Noruega , Saúde Bucal/estatística & dados numéricos , Estudos Transversais , Inquéritos e Questionários , Má Oclusão/psicologia , Má Oclusão/epidemiologiaRESUMO
OBJECTIVES: Establish the longitudinal cross-lagged associations between maltreatment exposure and child behavior problems to promote screening and the type and timing of interventions needed. METHODS: The Longitudinal Studies of Child Abuse and Neglect, a multiwave prospective cohort study of maltreatment exposure, enrolled children and caregivers (N = 1354) at approximately age 4 and followed them throughout childhood and adolescence. Families completed 7 waves of data collection with each wave occurring 2 years apart. Maltreatment was confirmed using official case records obtained from Child Protective Services. Six-month frequencies of behavior problems were assessed via caregiver-report. Two random-intercept, cross-lagged panel models tested the directional relations between maltreatment exposure and externalizing and internalizing behaviors. RESULTS: Maltreatment exposure predicted increases in externalizing behaviors at ages 8 (b = 1.06; 95% confidence interval [CI] 0.14-1.98), 12 (b = 1.09; 95% CI 0.08-2.09), and 16 (b = 1.67; 95% CI 0.30-3.05) as well as internalizing behaviors at ages 6 (b = 0.66; 95% CI 0.03-1.29), 12 (b = 1.25; 95% CI 0.33-2.17), and 14 (b = 1.92; 95% CI 0.76-2.91). Increases in externalizing behaviors predicted maltreatment exposure at age 12 (odds ratio 1.02; 95% CI 1.00-1.05). CONCLUSIONS: Maltreatment exposure is robustly associated with subsequent child behavior problems, strengthening inferences about the directionality of these relations. Early screening of externalizing behaviors in pediatric settings can identify children likely to benefit from intervention to reduce such behaviors as well as prevent maltreatment exposure at entry to adolescence.
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Maus-Tratos Infantis , Transtornos do Comportamento Infantil , Humanos , Criança , Masculino , Feminino , Maus-Tratos Infantis/psicologia , Maus-Tratos Infantis/estatística & dados numéricos , Pré-Escolar , Adolescente , Transtornos do Comportamento Infantil/epidemiologia , Transtornos do Comportamento Infantil/etiologia , Transtornos do Comportamento Infantil/psicologia , Estudos Prospectivos , Estudos Longitudinais , Comportamento Problema/psicologiaRESUMO
Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disease affecting lipoprotein metabolism. FCS is estimated to occur in 1 in 1-2 million individuals and can be diagnosed at any age, equally affecting all genders, races, and ethnicities. The condition is characterized by hypertriglyceridemia, which may predispose patients to acute pancreatitis. In this report, we present the case of a now 6-year-old girl with FCS on gemfibrozil and dietary restrictions. The patient initially presented at 40 days of age with vomiting. Serum samples revealed lipemia, with markedly elevated triglyceride levels. The patient was diagnosed with FCS, confirmed by genetic testing showing the homozygous variant c.833C>T(p,Ser278Phe) for the LPL gene. Despite being on a low-fat diet with medium chain triglyceride (MCT) based milk formulas, the patient developed acute pancreatitis 2 months later with continued elevated triglyceride levels. She was placed on gemfibrozil and fat-soluble vitamins at 2 months of age, with marked improvements subsequently noted. Currently, the patient is doing well, with normal growth parameters and no other episodes of acute pancreatitis. Her triglyceride levels have been maintained within normal levels. FCS is a rare, inherited lipid disorder that often goes underdiagnosed and unmanaged. It is worth considering the fibric acid derivative (gemfibrozil) to be one of the lines of management early on after diagnosis.
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BACKGROUND: The mouth is a central organ for communication and fluid intake, also for dying nursing home patients. This study describes the prevalence and severity of oral symptoms from nursing home admission until the day of perceived dying and the day of death. METHODS: A prospective, longitudinal cohort study including 696 patients who were admitted to 47 Norwegian nursing homes in 35 municipalities. During the first year of their stay, 189 died (27%), of whom 82 participants were assessed on the day they were perceived as dying and 134 on the day of death. Mouth care, nutrition, and bedsores were assessed with the Residents' Assessment Instrument for nursing homes (RAI-NH) and palliative care (RAI-PC). Pain intensity was assessed with the Mobilization-Observation-Behaviour-Intensity-Dementia-2 Pain Scale (MOBID-2). RESULTS: The proportion of patients with ≥ 6 oral symptoms increased from 16% when perceived as dying to 20% on the day of death (P = 0.001). On the day of death, xerostomia (66%), dysphagia (59%), and mastication problems (50%) were the most frequently observed oral symptoms. Only 16% received mouth care every hour and 12% were in pain during this procedure. Compared to people without dementia, those with a diagnosis of dementia at admission (N = 112, 86%) had xerostomia and mastication problems more frequently (50% vs. 73%; 32% vs. 56% (P = 0.038), respectively) on the day of death. CONCLUSIONS: The high extent of oral symptoms such as xerostomia, dysphagia, and mastication problems underline the need for systematic assessment and improved oral palliative care for dying nursing home patients with dementia. TRIAL REGISTRATION: Clinicaltrials.gov NCT01920100 08/08/2013. First submission to BMC oral 15/03/2023.
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Transtornos de Deglutição , Demência , Xerostomia , Humanos , Transtornos de Deglutição/epidemiologia , Demência/epidemiologia , Estudos Longitudinais , Casas de Saúde , Dor , Estudos Prospectivos , Xerostomia/epidemiologiaRESUMO
BACKGROUND: Immigrants are known to experience greater socioeconomic stress and poorer well-being and to suffer more from lifestyle- and diet-related disorders than native populations. There is also evidence that children of immigrant parents are at greater risk of diverse health problems than their host country cohorts. The aim of this study is to apply and evaluate the efficacy of an early life intervention program among parents/children with immigrant background to prevent childhood caries and obesity, thereby improving the children's general health, oral health, and quality of life. METHODS: This is a study protocol for a cluster randomized controlled intervention follow-up study. In phase I of the study, the primary care health centers in the municipality of Bergen, Norway were randomly allocated to intervention or control groups. The intervention was carried out using the motivational interviewing technique and the common risk factor approach. The intervention group received guidance on diet/oral hygiene and the control group received standard care information. Parental knowledge and children at age 3 and 5 years old will be assessed in a prospective phase II follow-up study compared to native Norwegian controls. The primary outcome will be evaluation of change on parental oral health related knowledge and attitudes. The secondary outcome will assess the impact of the intervention on children's caries -, body mass index- and oral health related quality of life. DISCUSSION: Collaboration between dental public health and primary health care personnel on the common risk approach motivational intervention offers opportunities to address key dietary behaviors that may prevent obesity and dental caries. Providing sustainable preventive measures decreases the burden of diseases and consequently reduces health inequalities, particularly among at-risk children. TRIAL REGISTRATION: The study is registered as a clinical trial (ClinicalTrials.gov Identifier: NCT05758454: 7 March 2023). Ethical approval has already been granted by the Regional Ethical Committee (REK) (2015/ 27,639 /REK vest) and Sikt - Norwegian Agency for Shared Services in Education and Research (Reference number 778825).
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Cárie Dentária , Emigrantes e Imigrantes , Obesidade Infantil , Criança , Humanos , Pré-Escolar , Obesidade Infantil/prevenção & controle , Cárie Dentária/prevenção & controle , Suscetibilidade à Cárie Dentária , Seguimentos , Estudos Prospectivos , Qualidade de Vida , Noruega , Ensaios Clínicos Controlados Aleatórios como AssuntoRESUMO
Child maltreatment is a major risk factor for both depressive and anxiety disorders. However, many children exposed to maltreatment never meet diagnostic threshold for either disorder while experiencing only transitory symptoms post-exposure. Recent research suggests DNA methylation adds predictive value in explaining variation in the onset and course of multiple psychiatric disorders following exposure to child maltreatment. Epigenetic age acceleration (EAA), the biological aging of cells not attributable to chronological aging, is a stress-sensitive biomarker capturing genome-wide variation in DNA methylation with the potential to identify children who have been maltreated at greatest risk for depressive and anxiety disorders. The current study examined two EAA clocks appropriate for the pediatric population, the Horvath and Pediatric Buccal Epigenetic (PedBE) clocks, and their associations with depressive and anxiety symptom severity following child maltreatment. Children (N = 71) 8-15 years of age, all of whom were exposed to substantiated child maltreatment in the 12 months prior to study entry, were enrolled. Risk modeling adjusting for several confounders revealed that EAA estimated via the Horvath clock was significantly associated with more severe depressive and anxiety symptoms. The PedBE clock was not associated with either depressive or anxiety symptom severity. Sensitivity analyses demonstrated that EAA via the Horvath clock robustly predicted depressive and anxiety symptom severity across multiple modeling scenarios. Our findings advance existing research suggesting EAA, as estimated with the Horvath clock, may be a promising biomarker for identifying children at greatest risk for more severe depressive and anxiety symptoms following maltreatment.
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Envelhecimento , Transtornos de Ansiedade , Humanos , Criança , Lactente , Transtornos de Ansiedade/genética , Transtornos de Ansiedade/epidemiologia , Envelhecimento/genética , Metilação de DNA , Ansiedade/genética , Epigênese GenéticaRESUMO
There is a lack of objective tools for monitoring treatment response in extrapulmonary tuberculosis (EPTB). This study aimed to explore the utility of inflammatory biomarkers from the dry blood spots (DBS) as a tool for monitoring treatment response in EPTB. In a prospective cohort study, 40 inflammatory biomarkers were investigated in DBS samples from 105 EPTB cases using a Luminex platform. The samples were taken before, and, at the end of the 2nd and 6th months of treatment. A total of 11 inflammatory host biomarkers changed significantly with treatment in all EPTB patients. CXCL9/MIG, CCL20, CCL23, CXCL10/IP-10, CXCL1, CXCL2, and CXCL8 significantly declined in our cohort of EPTB (48 TB pleuritis and 57 TB lymphadenitis) patients at both time points. A biosignature consisting of MIG, CCL23, and CXCL2, corresponded with the treatment response in 81% of patients in the 2nd month and 79% of patients at the end of treatment. MIG, CCL23, IP-10, and CXCL2 changed significantly with treatment in all patients including those showing partial clinical response at the 2nd month of treatment. The changes in the levels of inflammatory biomarkers in the DBS correspond with the treatment success and can be developed as a routine test in low-resource settings.
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Tuberculose Extrapulmonar , Tuberculose Pleural , Humanos , Biomarcadores , Quimiocina CXCL10 , Estudos Prospectivos , Tuberculose Extrapulmonar/sangue , Tuberculose Extrapulmonar/diagnóstico , Tuberculose Pleural/sangue , Tuberculose Pleural/diagnóstico , Teste em Amostras de Sangue Seco , Quimiocinas/sangueRESUMO
Diabetic neuropathy is a major cause of morbidity among diabetics, usually affecting patients with long-standing diabetes and advancing age. We present a case of atypical first clinical presentation of diabetes mellitus type 1 in a pediatric patient. A 15-year-old male patient presented to the Emergency department with complaints of right foot weakness associated with mild paresthesia of 1-week duration. There were complaints of polyuria, polydipsia and weight loss in the same timeframe. On subsequent examination, the patient exhibited signs of right-sided foot drop with weak ankle dorsiflexion and eversion accompanied by impaired sensation over the dorsum of the right foot. Lab results confirmed a diagnosis of diabetes mellitus type 1 and the patient was started on subcutaneous insulin injections. The patient's foot drop recovered within 1 month of insulin initiation. This case highlights that Type 1 diabetes mellitus can present atypically as acute onset neuropathy in pediatric patients, making it an important differential diagnosis.
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Resolvin D1 (RvD1) is a pro-resolving lipid mediator of inflammation, endogenously synthesized from omega-3 docosahexaenoic acid. The purpose of this study was to investigate the effect of RvD1 on bone regeneration using a rat calvarial defect model. Collagen 3D nanopore scaffold (COL) and Pluronic F127 hydrogel (F127) incorporated with RvD1 (RvD1-COL-F127 group) or COL and F127 (COL-F127 group) were implanted in symmetrical calvarial defects. After implantation, RvD1 was administrated subcutaneously every 7 days for 4 weeks. The rats were sacrificed at weeks 1 and 8 post-implantation. Tissue samples were analyzed by real-time reverse transcriptase-polymerase chain reaction and histology at week 1. Radiographical and histological analyses were done at week 8. At week 1, calvarial defects treated with RvD1 exhibited decreased numbers of inflammatory cells and tartrate-resistant acid phosphatase (TRAP) positive cells, greater numbers of newly formed blood vessels, upregulated gene expression of vascular endothelial growth factor and alkaline phosphatase, and downregulated gene expression of receptor activator of nuclear factor-κB ligand, interleukin-1ß and tumor necrosis factor-α. At week 8, the radiographical results showed that osteoid area fraction of the RvD1-COL-F127 group was higher than that of the COL-F127 group, and histological examination exhibited enhanced osteoid formation and newly formed blood vessels in the RvD1-COL-F127 group. In conclusion, this study showed that RvD1 enhanced bone formation and vascularization in rat calvarial defects.
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Ácidos Docosa-Hexaenoicos , Crânio , Fator A de Crescimento do Endotélio Vascular , Animais , Ratos , Regeneração Óssea , Ácidos Docosa-Hexaenoicos/farmacologia , Crânio/metabolismoRESUMO
OBJECTIVE: Periodontal ligament cells (PDLCs) are critical for wound healing and regenerative capacity of periodontal diseases. Within an inflammatory periodontal pocket, a hypoxic environment can aggravate periodontal inflammation, where PDLCs response to the inflammation would change. Resolvin D1 (RvD1) is an endogenous lipid mediator, which can impact intracellular inflammatory pathways of periodontal/oral cells and periodontal regeneration. It is not clear how hypoxia and RvD1 impact the inflammatory responses of pro-inflammatory PDLCs phenotype. Therefore, this study aimed to test hypoxia could induce changes in pro-inflammatory phenotype of PDLCs and RvD1 could reverse it. METHODS: Human PDLCs were cultured from periodontal tissues from eight healthy individuals and were characterized by immunofluorescence staining of vimentin and cytokeratin. Cell viability was examined by Methyl-thiazolyl-tetrazolium (MTT) assay. To examine the effects of hypoxia and RvD1 on the inflammatory responses of pro-inflammatory PDLCs phenotype, protein levels and gene expressions of inflammatory cytokines and signal transduction molecules were measured by enzyme-linked immunosorbent assay (ELISA), western blotting (WB), and real-time quantitative reverse transcription PCR (real-time qRT-PCR). Alizarin red S staining and real-time qRT-PCR were employed to study the effects of hypoxia and RvD1 on the osteogenic differentiation of pro-inflammatory PDLCs phenotype. RESULTS: It was found that hypoxia increases the expression of inflammatory factors at the gene level (p < .05). RvD1 reduced the expression of IL-1ß (p < .05) in PDLCs under hypoxia both at the protein and RNA levels. There were increases in the expression of p38 mitogen-activated protein kinase (p38 MAPK, p < .01) and protein kinase B (Akt, p < .05) in response to RvD1. Also, a significantly higher density of calcified nodules was observed after treatment with RvD1 for 21 days under hypoxia. CONCLUSION: Our results indicate that hypoxia up-regulated the inflammatory level of PDLCs. RvD1 can reduce under-hypoxia-induced pro-inflammatory cytokines in the inflammatory phenotype of PDLCs. Moreover, RvD1 promotes the calcium nodules in PDLCs, possibly by affecting the p38 MAPK signaling pathway through Akt and HIF-1α.
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Osteogênese , Ligamento Periodontal , Células Cultivadas , Ácidos Docosa-Hexaenoicos , Humanos , Hipóxia , Inflamação , Fenótipo , Proteínas Proto-Oncogênicas c-akt , Proteínas Quinases p38 Ativadas por MitógenoRESUMO
Background: Many people with dementia (PwD) live and die with undiagnosed and untreated pain and are no longer able to report their suffering. Several pain assessment tools have been developed, tested, and implemented in clinical practice, but nursing home patients are reported to be still in pain. Clinicians and research groups worldwide are seeking novel approaches to encode the prediction, prevalence, and associations to pain in PwD. Participants: The data in this analysis are acquired from the COSMOS study, a cluster-randomized controlled trial (2014 to 2015), aimed to improve the quality of life in nursing home patients (N = 723) through the implementation of a multicomponent intervention. We utilize baseline data of PwD (N = 219) with complete datasets of pain and agitation. Method: Systems analysis explores the relationship between pain and agitation using the Mobilization-Observation-Behavior-Intensity-Dementia (MOBID-2) Pain Scale, Cohen-Mansfield Agitation Inventory (CMAI), and Neuropsychiatric Inventory-Nursing Home version (NPI-NH). For each patient, the individualized continuous time trajectory, and rates of change of pain and agitation are estimated. We determine the relationship between these rates by analyzing them across the entire group. Results: We found that the new analysis method can generate individualized estimations for pain and agitation evolution for PwD, as well as their relationship. For 189 of 219 PwD, results show that whenever pain increases or decreases, agitation does too, with the same rate. The method also identifies PwD for whom pain or agitation remains constant while the other varies over time, and patients for whom agitation and pain do not change together. The algorithm is scalable to other variables and compatible with wearable devices and digital sensors. Conclusion: We presented a new approach to clinical data analysis using systems concepts and algorithms. We found that it is possible to quantify and visualize relationships between variables with a precision only dependent on the precision of measurements. This method should be further validated, but incipient results show great potential, especially for wearable-generated continuous data.
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Resolvins are biosynthesized from omega-3 eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) in vivo by means of enzymatic activities, and these factors can attenuate inflammation and promote tissue regeneration. Inflammatory bone disorders can lead to bone loss and thereby be harmful to human health. The link between bone preservation and resolvins has been discussed in some experimental studies. Significant evidence has shown that resolvins benefit bone health and bone preservation by promoting the resolution of inflammation and directly regulating osteoclasts and osteoblasts. Therefore, this review highlights the role and beneficial impact of resolvins derived from EPA and DHA on inflammatory bone disorders, such as rheumatoid arthritis and periodontitis. In addition, the mechanisms by which resolvins exert their beneficial effects on bone preservation have also been summarized based on the available literature.
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Artrite Reumatoide , Ácido Eicosapentaenoico , Ácidos Docosa-Hexaenoicos/farmacologia , Ácido Eicosapentaenoico/farmacologia , Ácidos Graxos , Humanos , InflamaçãoRESUMO
OBJECTIVE: To identify regional differences in, and determinants of dental caries among children in western Norway. MATERIAL AND METHODS: We studied dental caries in 705 children aged 12 years and 18 years living in the southern region (n = 403) and other parts of Hordaland County (n = 302) in Norway. Information on oral hygiene, fluoride intake, and sugar consumption was collected using questionnaires. We also collected information from the Public Dental Service (PDS) on the history of decayed, missing, or filled teeth; professional fluoride application; recall and regular check-up intervals and treatment visits. Residence (southern region versus the rest of Hordaland, the reference) was the independent variable. We analysed regional differences in (i) caries prevalence and severity, (ii) potential contributors to caries, and (iii) procedures and routines in PDS. RESULTS: Caries prevalence and severity were higher in the southern region (67% and 24%, respectively). Self-reported brushing habits, fluoride use, and sugar consumption patterns were similar between regions. We observed more frequent application of professional fluoride (incidence rate ratio [IRR] = 3.05, 95% CI: 1.99-4.66], fewer check-ups [IRR = 0.88, 95% CI: 0.81-0.95], and fewer treatment visits [IRR = 0.77, 95% CI: 0.60-0.98] among participants in the southern region, compared to the rest of Hordaland. The recall intervals in the southern region were 10% longer among 12-year-olds and 10% shorter among 18-year-olds, compared to their respective counterparts in Hordaland. CONCLUSIONS: The observed regional gradients in caries experience mirrored regional differences in dental routines and procedures. Caries-related risk behaviours did not explain the observed differences in caries experience.
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Cárie Dentária , Adolescente , Criança , Índice CPO , Cárie Dentária/epidemiologia , Suscetibilidade à Cárie Dentária , Açúcares da Dieta , Fluoretos , Seguimentos , Humanos , PrevalênciaRESUMO
BACKGROUND: Patients born with cleft lip and/or palate (CL/P) have orthodontic treatment challenges due to maxilla deficiency, malocclusions, and dental abnormalities. In Norway, orthodontic treatment is done by centralized CL/P teams. Due to traveling restrictions, this treatment might be done locally in the future. The experience of Norwegian community orthodontists in managing such patients has not been investigated previously. OBJECTIVE: To assess Norwegian orthodontists' management of patients with CL/P and need for further education. MATERIAL AND METHODS: All orthodontists in Norway were sent a questionnaire about their experience, challenges, and knowledge and asked about their need of further theoretical education and clinical training in the management of patients with CL/P. RESULTS: Norwegian orthodontists' standard of knowledge of CL/P treatment is adequate. However, few respondents have treated a high number of cleft patients. Eighty-six percent of the participants believed that treating CL/P patients involves challenges, such as time-consuming treatment and technical difficulties. Increased perceived need for more education was revealed among participants stated unpreparedness during education (4 folds), encountered challenges, and lack of knowledge (almost 3 folds). CONCLUSIONS: The study revealed that community orthodontists in Norway lack experience and acknowledged the challenges in treating patients with CL/P. Most of the respondents perceived a need for additional education and clinical training to treat CL/P patients competently. The findings suggested more focus on patients with CL/P management in the curricula and more collaboration between centralized CL/P teams and community orthodontists.
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Fenda Labial , Fissura Palatina , Ortodontia , Fenda Labial/terapia , Fissura Palatina/terapia , Humanos , Ortodontistas , Inquéritos e QuestionáriosRESUMO
BACKGROUND: Transient neonatal diabetes mellitus (TNDM) is the most common cause of diabetes in the first week of life, with an overall incidence of 1 in 90,000 to 160,000 live births. TNDM occurs soon after birth and undergoes spontaneous remission during infancy; however, it may relapse to a permanent form of diabetes mellitus in childhood or adolescence. We report a case of TNDM due to hypomethylation on chromosome 6q24, associated with a rare clinical finding of nonsuppurative submandibular sialadenitis managed by subcutaneous insulin, and who underwent remission by three months of age. Case Presentation. We report a male neonate of Arab ancestry delivered by caesarean section at 37 weeks of gestation. He had intrauterine growth retardation with a birth weight of 2.099 kg. He presented with hyperglycemia on the first day of life, which was managed with parenteral insulin infusion. Blood glucose control was initially difficult to achieve due to difficulties in preparing such small doses of insulin and the significant variations in blood glucose concentrations, without ketosis. Blood tests revealed low serum insulin and C-peptide levels. Genetic analysis revealed multiple loci hypomethylation of the PLAGL1/HYMAI-DMR in the TNDM region in chromosome 6q24 and two pathogenic heterozygous variants in the ZFP57 gene. Segregation analysis showed that both parents were heterozygous carriers of familial ZFP57 variants. The clinical course was associated with bilateral nonsuppurative sialadenitis, which is extremely rare among newborns. CONCLUSION: Sialadenitis is a well-known phenomenon that is rarely diagnosed in neonates. To the best of our knowledge, this is the first case report to describe the exceedingly rare association of nonsuppurative submandibular sialadenitis in a neonate with TNDM due to multiple loci hypomethylation of the PLAGL1/HYMAI-DMR in the TNDM region in 6q24 and heterozygous pathogenic variants in the ZFP57 gene.
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Ultrasound is the imaging modality of choice for the initial evaluation of disorders that involve the abdominal aorta (AA). The diagnostic value of ultrasound resides in its ability to allow assessment of the anatomy and structure of the AA using two- dimensional, three-dimensional, and contrast-enhanced imaging. Moreover, ultrasound permits evaluation of the physiologic and hemodynamic consequences of abnormalities through Doppler interrogation of blood flow, thus enabling the identification and quantification of disorders within the AA and beyond its boundaries. The approach to ultrasound imaging of the AA varies, depending on the purpose of the study and whether it is performed in a radiology or vascular laboratory or in an echocardiography laboratory. The aim of this review is to demonstrate the usefulness of ultrasound imaging for the detection and evaluation of disorders that involve the AA, detail the abnormalities that are detected or further assessed, and outline its value for echocardiographers, sonographers, and radiologists.
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Aorta Abdominal , Ecocardiografia , Aorta Abdominal/diagnóstico por imagem , Hemodinâmica , Humanos , UltrassonografiaRESUMO
PURPOSE: The aim of this study was to explore the utility of inflammatory biomarkers in the peripheral blood to predict response to treatment in extrapulmonary tuberculosis (EPTB). METHODS: A Luminex xMAP-based multiplex immunoassay was used to measure 40 inflammatory biomarkers in un-stimulated plasma of 91 EPTB patients (48 lymphadenitis, and 43 pleuritis) before and at 2 and 6 months of treatment. RESULTS: Overall a significant change was observed in 28 inflammatory biomarkers with treatment in EPTB patients. However, MIG/CXCL9, IP-10/CXCL10, and CCL23 decreased in all patients' groups with successful treatment at both time points. At 2 months, 29/64 (45%) patients responded partially while 35/64 (55%) showed complete regress. Among good responders, a higher number of biomarkers (16/40) reduced significantly as compared to partial responders (1/40). Almost half (14/29) of partial responders required longer treatment than 6 months to achieve satisfactory response. The levels of MIG, IP-10, MIF, CCL22 and CCL23 reduced significantly among 80, 74, 60, 71, 51% good responders, as compared to 52, 52, 52, 59, 52% partial responders, respectively. A biosignature, defined by a significant decrease in any one of these five biomarkers, corresponded with satisfactory response to treatment in 97% patients at 2 month and 99% patients at 6 months of treatment. CONCLUSION: Change in inflammatory biomarkers correlates with treatment success. A five biomarker biosignature (MIG, IP-10, MIF, CCL22 and CCL23) could be used as an indicator of treatment success.
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Biomarcadores/metabolismo , Interações Hospedeiro-Patógeno , Tuberculose/terapia , Adolescente , Adulto , Idoso , Biomarcadores/sangue , Quimiocinas/sangue , Criança , Análise Discriminante , Feminino , Humanos , Inflamação/sangue , Masculino , Pessoa de Meia-Idade , Resultado do Tratamento , Tuberculose/sangue , Adulto JovemRESUMO
INTRODUCTION: X-linked hypophosphatemia (XLH) is a rare inherited cause of hypophosphatemic rickets and osteomalacia. It is caused by mutations in the phosphate-regulating endopeptidase homolog, X-linked (PHEX). This results in increased plasma fibroblast growth factor-23 (FGF23), which leads to loss of renal sodium-phosphate co-transporter expression leading to chronic renal phosphate excretion. It also leads to low serum 1,25-dihydroxyvitamin D (1,25(OH)2D), resulting in impaired intestinal phosphate absorption. Chronic hypophosphatemia in XLH leads to impaired endochondral mineralization of the growth plates of long bones with bony deformities. XLH in children and adolescents also causes impaired growth, myopathy, bone pain, and dental abscesses. XLH is the most frequent inherited cause of phosphopenic rickets/osteomalacia. Hypophosphatemia is also found in calcipenic rickets/osteomalacia as a result of secondary hyperparathyroidism. Thus, chronic hypophosphatemia is a common etiologic factor in all types of rickets. RESULTS: There is considerable overlap between symptoms and signs of phosphopenic and calcipenic rickets/osteomalacia. Wrong diagnosis leads to inappropriate treatment of rickets/osteomalacia. Nutritional rickets and osteomalacia are common in the Gulf Cooperation Council countries which include Saudi Arabia, United Arab Emirates, Kuwait, Qatar, Bahrain, and Oman. Due to high levels of consanguinity in the region, genetic causes of phosphopenic and calcipenic rickets/osteomalacia are also common. CONCLUSION: This guideline was developed to provide an approach to the diagnosis of XLH, especially where there is no family history of the disease, and that other related conditions are not mistaken for XLH. We also guide the medical management of XLH with conventional treatment and with burosumab, a recombinant human IgG1 monoclonal antibody to FGF23.
Assuntos
Raquitismo Hipofosfatêmico Familiar , Adolescente , Barein , Criança , Raquitismo Hipofosfatêmico Familiar/diagnóstico , Raquitismo Hipofosfatêmico Familiar/genética , Raquitismo Hipofosfatêmico Familiar/terapia , Fator de Crescimento de Fibroblastos 23 , Humanos , Kuweit , Omã , Arábia Saudita , Emirados Árabes UnidosRESUMO
AIM: The aim of this study was to compare the effects of white MTA-Angelus (wMTA), Biodentine® (Biodentine) and TotalFill® BC Root Repair MaterialTM putty (TotalFill) on human dental pulp stromal cells (hDPSCs) in vitro. MATERIALS AND METHODS: hDPSCs were isolated from third molars of healthy young adults. Material elutes at different concentrations were prepared. Cells were exposed to the eluates for 1, 3, and 7 days. Cell proliferation was evaluated using 3-(4,5-dimethyl-thiazoyl)-2, 5-diphenyl-tetrazolium bromide assay. The expression of alkaline phosphatase (ALP), osteoprotegerin (OPG), osteocalcin (OC), collagen1A (Col1A), runt-related transcription factor 2 (RUNX2), vascular endothelial growth factor-A (VEGF-A), fibroblast growth factor-1 (FGF-1), interleukin 6 (IL6), tumor necrosis factor alpha (TNFα), and interleukin-1-beta (IL1ß) was determined by reverse transcription-polymerase chain reaction (RT-PCR). VEGF-A protein levels and ALP activity were quantified in the culture supernatant. Data were analyzed by two-way analysis of variance (ANOVA). p values <0.05 were considered statistically significant. RESULTS: hDPSC proliferation was decreased in a dose-related manner for all materials on day 3. The same effect was observed with wMTA and TotalFill on day 7. RT-PCR showed that Biodentine increased the expression of the osteogenic markers ALP, OPG, and OC. TotalFill decreased the ALP expression and activity, enhanced the production of angiogenic VEGF-A, and downregulated the inflammatory IL6 on day 7. CONCLUSION: Although the tested materials are used interchangeably in vital pulp therapy, the findings showed varied hDPSC responses. Biodentine did not affect cell proliferation and increased the expression of osteo-/odontogenic markers compared to wMTA and TotalFill, whereas TotalFill decreased cell proliferation and exhibited enhanced angiogenic and anti-inflammatory effects over time. CLINICAL SIGNIFICANCE: The clinical significance of the results needs further investigation in an attempt to provide recommendations on the selection of bioceramic pulp capping material under different scenarios of pulpal pathosis.