Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 95
Filtrar
Más filtros

País/Región como asunto
Tipo del documento
Intervalo de año de publicación
1.
Ecol Appl ; 34(5): e2983, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38840517

RESUMEN

Understanding the factors influencing species range limits is increasingly crucial in anticipating migrations due to human-caused climate change. In the boreal biome, ongoing climate change and the associated increases in the rate, size, and severity of disturbances may alter the distributions of boreal tree species. Notably, Interior Alaska lacks native pine, a biogeographical anomaly that carries implications for ecosystem structure and function. The current range of lodgepole pine (Pinus contorta var. latifolia) in the adjacent Yukon Territory may expand into Interior Alaska, particularly with human assistance. Evaluating the potential for pine expansion in Alaska requires testing constraints on range limits such as dispersal limitations, environmental tolerance limits, and positive or negative biotic interactions. In this study, we used field experiments with pine seeds and transplanted seedlings, complemented by model simulations, to assess the abiotic and biotic factors influencing lodgepole pine seedling establishment and growth after fire in Interior Alaska. We found that pine could successfully recruit, survive, grow, and reproduce across our broadly distributed network of experimental sites. Our results show that both mammalian herbivory and competition from native tree species are unlikely to constrain pine growth and that environmental conditions commonly found in Interior Alaska fall well within the tolerance limits for pine. If dispersal constraints are released, lodgepole pine could have a geographically expansive range in Alaska, and once established, its growth is sufficient to support pine-dominated stands. Given the impacts of lodgepole pine on ecosystem processes such as increases in timber production, carbon sequestration, landscape flammability, and reduced forage quality, natural or human-assisted migration of this species is likely to substantially alter responses of Alaskan forest ecosystems to climate change.


Asunto(s)
Pinus , Pinus/fisiología , Alaska , Cambio Climático , Modelos Biológicos , Plantones , Demografía , Animales , Ecosistema
2.
Future Oncol ; 20(14): 877-890, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38869947

RESUMEN

WHAT IS THIS SUMMARY ABOUT?: This summary describes a publication about a study called SPRINT. The SPRINT study included 50 children with neurofibromatosis type 1 (NF1) and plexiform neurofibroma (PN) that could not be removed with surgery. PNs are tumors that grow along nerves and can cause various problems for children, such as pain, changes to appearance, and muscle weakness. In SPRINT, the study team wanted to learn whether a medication called selumetinib was able to shrink the PN caused by NF1 (also known as NF1-related PN), and if shrinking PNs helped relieve children of the problems caused by it. To assess how selumetinib might help, children had scans to measure the size of their PN, completed questionnaires, and had a variety of other tests done by their doctor. Their caregivers also completed questionnaires about their child. The children took selumetinib capsules twice a day on an empty stomach. WHAT WERE THE RESULTS?: The results showed that selumetinib was able to shrink the PN for most children (68%). The results also showed that the problems caused by the children's PNs mostly improved while on selumetinib treatment. SPRINT also showed that the side effects of selumetinib were mainly mild and could be managed by doctors. WHAT DO THE RESULTS MEAN?: Before SPRINT, there were not many treatment options for children with NF1 and PN as there were no medications that had been shown to shrink PN, and surgery was not always possible. SPRINT showed that this medication shrinks most PNs and could help children with NF1 and PN. In April 2020, selumetinib was approved by the US Food and Drug Administration (FDA) because of the results of SPRINT. Selumetinib was the first and, as of February 2024, is the only medicine that can be prescribed by doctors to help children with NF1-related PN. Clinical Trial Registration: NCT01362803 (SPRINT) (ClinicalTrials.gov).


Asunto(s)
Bencimidazoles , Neurofibroma Plexiforme , Neurofibromatosis 1 , Adolescente , Niño , Preescolar , Femenino , Humanos , Masculino , Bencimidazoles/uso terapéutico , Bencimidazoles/efectos adversos , Neurofibroma Plexiforme/tratamiento farmacológico , Neurofibroma Plexiforme/patología , Neurofibromatosis 1/tratamiento farmacológico , Neurofibromatosis 1/complicaciones , Inhibidores de Proteínas Quinasas/uso terapéutico , Inhibidores de Proteínas Quinasas/efectos adversos , Resultado del Tratamiento
3.
Aesthet Surg J ; 44(6): 647-657, 2024 May 15.
Artículo en Inglés | MEDLINE | ID: mdl-38262634

RESUMEN

BACKGROUND: Hyaluronic acids (HAs) continue to be the fillers of choice worldwide and their popularity is growing. Adverse events (AEs) are able to be resolved through the use of hyaluronidase (HYAL). However, routine HYAL use has been at issue due to perceived safety issues. OBJECTIVES: There are currently no guidelines on the use of HYAL in aesthetic practice, leading to variability in storage, preparation, skin testing, and beliefs concerning AEs. This manuscript interrogated the use of this agent in daily practice. METHODS: A 39-question survey concerning HYAL practice was completed by 264 healthcare practitioners: 244 from interrogated databases and 20 from the consensus panel. Answers from those in the database were compared to those of the consensus panel. RESULTS: Compared to the database group, the consensus group was more confident in the preparation of HYAL, kept reconstituted HYAL for longer, and was less likely to skin test for HYAL sensitivity and more likely to treat with HYAL in an emergency, even in those with a wasp or bee sting anaphylactic history. Ninety-two percent of all respondents had never observed an acute reaction to HYAL. Just over 1% of respondents had ever observed anaphylaxis. Five percent of practitioners reported longer-term adverse effects, including 3 respondents who reported loss of deep tissues. Consent before injecting HA for the possible requirement of HYAL was always obtained by 74% of practitioners. CONCLUSIONS: Hyaluronidase would appear to be an essential agent for anyone injecting hyaluronic acid filler. However, there is an absence of evidence-based recommendations with respect to the concentration, dosing, and treatment intervals of HYAL, and these should ideally be available.


Asunto(s)
Técnicas Cosméticas , Rellenos Dérmicos , Ácido Hialurónico , Hialuronoglucosaminidasa , Pautas de la Práctica en Medicina , Hialuronoglucosaminidasa/administración & dosificación , Humanos , Ácido Hialurónico/administración & dosificación , Ácido Hialurónico/efectos adversos , Pautas de la Práctica en Medicina/estadística & datos numéricos , Técnicas Cosméticas/efectos adversos , Rellenos Dérmicos/administración & dosificación , Rellenos Dérmicos/efectos adversos , Encuestas y Cuestionarios/estadística & datos numéricos , Anafilaxia/inducido químicamente
4.
Am J Med Genet C Semin Med Genet ; 193(4): e32070, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37864360

RESUMEN

Individuals with Down syndrome (DS) have been particularly impacted by respiratory conditions, such as pneumonia. However, the description of co-occurring recurrent infections, the response to pneumococcal immunization, and the association of these was previously unknown. We screened individuals with DS using an 11-item screener and prospectively collected pneumococcal titers and laboratory results. We found that the screener did not successfully predict which individuals with DS who would have inadequate pneumococcal titers. Thirty four of the 55 individuals with DS (62%) had abnormal pneumococcal titers demonstrating an inadequate response to routine immunization. In the absence of a valid screener, clinicians should consider screening all individuals with DS through the use of pneumococcal titers to 23 serotypes to assess vaccine response.


Asunto(s)
Síndrome de Down , Neumonía , Humanos , Síndrome de Down/complicaciones , Anticuerpos Antibacterianos , Streptococcus pneumoniae , Vacunas Neumococicas/uso terapéutico
5.
Am J Med Genet A ; 191(9): 2300-2311, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-37340831

RESUMEN

Plasma ceramide levels (henceforth, "ceramides") are biomarkers of some diseases that are comorbidities of Down syndrome (DS). We sought to determine if comorbidities in DS were associated with ceramides, studying a convenience cohort of 35 study participants, all ≥12 months old. To identify comorbidities, we reviewed the problem lists in electronic health records that were concurrent with sample collection. We placed clinically related comorbidities into one of five categories of comorbidities, henceforth, categories: obesity/overweight; autoimmune disease; congenital heart disease; bacterial infection; and central nervous system (CNS) condition. We measured the eight ceramides most frequently associated with disease using liquid chromatography-tandem mass spectrometry. We calculated a ceramide composite outcome score (CCOS) for each participant by normalizing each ceramide level to the mean for that level in the study population and then summing the normalized levels, to be proxy variable for all eight ceramides in aggregate. We used multivariable linear regression models adjusted for age and sex to test associations of categories with ceramides and with CCOSs. Post hoc, we realized that co-occurring comorbidities might interfere with establishing associations between predictor categories and ceramides and that stratified analyses might eliminate their influence on associations. We posited that CCOSs could be used to screen for associations of categories with multiple ceramides, since most diseases have been associated with more than one ceramide. We chose to omit in the stratified analyses the two categories that were the most different from one another in their associations with their CCOSs, having the most divergent regression coefficients (the highest positive and lowest negative coefficients). We first omitted one of these two divergent categories in a stratified analysis and tested in the remaining participants (those without a comorbidity in the interfering category) for associations of the other four categories with their CCOSs and then did the same for the other divergent category. In each of these two screening stratified analyses, we found one category was significantly associated with its CCOS. In the two identified categories, we then tested for associations with each of the eight ceramides, using the appropriate stratified analysis. Next, we sought to determine if the associations of the two categories with ceramides we found by omitting participants in the interfering categories held in our small sample for participants in the omitted categories as well. For each of the two categories, we therefore omitted participants without the interfering category and determined associations between the predictor category and individual ceramides in the remaining participants (those with a comorbidity in the interfering category). In the a priori analyses, autoimmune disease was inversely associated with C16 and CNS condition was inversely associated with C23. Obesity/overweight and CNS condition were the two categories with the most divergent regression coefficients (0.037 vs. -0.048). In post hoc stratified analyses, after omitting participants with obesity/overweight, thereby leaving participants without obesity/overweight, bacterial infection was associated with its CCOS and then with C14, C20, and C22. However, in the companion stratified analyses, omitting participants without obesity/overweight, thereby leaving participants with obesity/overweight, bacterial infection was not associated with any of the eight ceramides. Similarly, in post hoc stratified analyses after omitting participants with a CNS condition, thereby leaving participants without a CNS condition, obesity/overweight was associated with its CCOS and then with C14, C23, and C24. In the companion analyses, omitting participants without a CNS condition, thereby leaving participants with a CNS condition, obesity/overweight was inversely associated with C24.1. In conclusion, CNS and autoimmune disease were inversely associated with one ceramide each in a priori analyses. In post hoc analyses, we serendipitously omitted categories that interfered with associations of other categories with ceramides in stratified analyses. We found that bacterial infection was associated with three ceramides in participants without obesity/overweight and that obesity/overweight was associated with three ceramides in participants without a CNS condition. We therefore identified obesity/overweight and CNS conditions as potential confounders or effect modifiers for these associations. This is the first report of ceramides in DS and in human bacterial infection. Further study of ceramides in comorbidities of DS is justified.


Asunto(s)
Síndrome de Down , Sobrepeso , Humanos , Lactante , Ceramidas , Síndrome de Down/complicaciones , Síndrome de Down/epidemiología , Comorbilidad , Obesidad/complicaciones , Obesidad/epidemiología
6.
Am J Med Genet A ; 191(3): 813-822, 2023 03.
Artículo en Inglés | MEDLINE | ID: mdl-36538912

RESUMEN

Individuals with Down syndrome (DS) are at increased risk for being overweight/obese, but the associated cardiometabolic risk (CR) is not clear. Cross-sectional anthropometric and clinical laboratory data from a multi-site, international cohort of individuals with DS were analyzed to determine cardiometabolic risk by reporting observed distributions of cardiometabolic biomarkers in overweight/obese individuals with DS throughout the lifespan. Descriptive statistics and regression analyses by age categories determined the distributive percentiles for cardiometabolic biomarkers and tested for adiposity as a predictor of CR. Across seven DS clinics, data were collected on 240 patients between the ages of 3 and 63 years, with one quarter overweight and three quarters obese among children and nearly all adults being obese. In children and adults, most cardiometabolic biomarker profiles showed distributive values within normal ranges. Blood lipids were positively associated with body mass index (BMI) in children (high density lipid-cholesterol, p = 0.01; low density lipid-cholesterol, p = 0.02). Levels of hs-CRP were elevated in both children and adults, with BMI positively associated with hs-CRP in adults with DS (p = 0.04). Liver enzyme values were positively associated with BMI in children and adults. The data suggest that in contrast to the general population, in individuals with Down syndrome, being overweight and obese does not appear to confer a significantly increased risk for cardiometabolic disease by biomarker profile. Individuals with DS who are overweight/obese appear to have unique cardiometabolic profiles unrelated to adiposity, notable for increased hs-CRP and normal HA1c levels.


Asunto(s)
Enfermedades Cardiovasculares , Síndrome de Down , Enfermedades Metabólicas , Humanos , Niño , Adulto , Preescolar , Adolescente , Adulto Joven , Persona de Mediana Edad , Sobrepeso/complicaciones , Sobrepeso/epidemiología , Proteína C-Reactiva/análisis , Síndrome de Down/complicaciones , Síndrome de Down/epidemiología , Estudios Transversales , Factores de Riesgo , Obesidad/complicaciones , Índice de Masa Corporal , Biomarcadores , Lípidos , Enfermedades Cardiovasculares/epidemiología , Enfermedades Cardiovasculares/etiología
7.
Aesthet Surg J ; 43(6): NP438-NP448, 2023 05 15.
Artículo en Inglés | MEDLINE | ID: mdl-36759325

RESUMEN

BACKGROUND: The pathogenesis of delayed-onset tissue nodules (DTNs) due to hyaluronic acid (HA) injections is uncertain. OBJECTIVES: To formulate a rational theory for DTN development and their avoidance and treatment. METHODS: A multidisciplinary and multicountry DTN consensus panel was established, with 20 questions posed and consensus sought. Consensus was set at 75% agreement. RESULTS: Consensus was reached in 16 of 20 questions regarding the pathogenesis of DTNs, forming the basis for a classification and treatment guide. CONCLUSIONS: The group believes that filler, pathogens, and inflammation are all involved in DTNs and that DTNs most likely are infection initiated with a variable immune response. Injected filler may incorporate surface bacteria, either a commensal or a true pathogen, if the skin barrier is altered. The initially high molecular weight HA filler is degraded to low molecular weight HA (LMWHA) at the edge of the filler. Commensals positioned within the filler bolus may be well tolerated until the filler is degraded and the commensal becomes visible to the immune system. LMWHA is particularly inflammatory in the presence of any local bacteria. Commensals may still be tolerated unless the immune system is generally heightened by viremia or vaccination. Systemic pathogenic bacteremia may also interact with the filler peripheral LMWHA, activating Toll-like receptors that induce DTN formation. Given this scenario, attention to practitioner and patient hygiene and early systemic infection treatment deserve attention. Classification and treatment systems were devised by considering each of the 3 factors-filler, inflammation, and infection-separately.


Asunto(s)
Técnicas Cosméticas , Rellenos Dérmicos , Humanos , Ácido Hialurónico/efectos adversos , Inyecciones , Técnicas Cosméticas/efectos adversos , Inflamación/etiología , Rellenos Dérmicos/efectos adversos
8.
J Pediatr ; 240: 228-234.e1, 2022 01.
Artículo en Inglés | MEDLINE | ID: mdl-34478747

RESUMEN

OBJECTIVE: To evaluate associations of race/ethnicity and social determinants with 90-day rehospitalization for mental health conditions to acute care nonpsychiatric children's hospitals. STUDY DESIGN: We conducted a retrospective cohort analysis of mental health hospitalizations for children aged 5-18 years from 2016 to 2018 at 32 freestanding US children's hospitals using the Children's Hospital Association's Pediatric Health Information System database to assess the association of race/ethnicity and social determinants (insurance payer, neighborhood median household income, and rurality of patient home location) with 90-day rehospitalization. Risk factors for rehospitalization were modeled using mixed-effects multivariable logistic regression. RESULTS: Among 23 556 index hospitalizations, there were 1382 mental health rehospitalizations (5.9%) within 90 days. Non-Hispanic Black children were 26% more likely to be rehospitalized than non-Hispanic White children (aOR 1.26, 95% CI 1.08-1.48). Those with government insurance were 18% more likely to be rehospitalized than those with private insurance (aOR 1.18, 95% CI 1.04-1.34). In contrast, those living in a suburban location were 22% less likely to be rehospitalized than those living in an urban location (suburban: aOR 0.78, 95% CI 0.63-0.97). CONCLUSIONS: Non-Hispanic Black children and those with public insurance were at greatest risk for 90-day rehospitalization, and risk was lower in those residing in suburban locations. Future work should focus on upstream interventions that will best attenuate social disparities to promote equity in pediatric mental healthcare.


Asunto(s)
Trastornos Mentales/epidemiología , Readmisión del Paciente/estadística & datos numéricos , Determinantes Sociales de la Salud/etnología , Adolescente , Niño , Preescolar , Femenino , Disparidades en el Estado de Salud , Hospitales Pediátricos/estadística & datos numéricos , Humanos , Masculino , Estudios Retrospectivos , Factores de Riesgo
9.
Am J Med Genet A ; 188(10): 3049-3062, 2022 10.
Artículo en Inglés | MEDLINE | ID: mdl-35924793

RESUMEN

Research to guide clinicians in the management of the devastating regression which can affect adolescents and young adults with Down syndrome is limited. A multi-site, international, longitudinal cohort of individuals with a clinical diagnosis of Unexplained Regression in Down syndrome (URDS) was collated through seven Down syndrome clinics. Tiered medical evaluation, a 28-item core symptom list, and interim management are described naturalistically. Improvement-defined by the percentage of baseline function on a Parent-reported Functional Score, overall improvement in symptoms on a Clinician-administered Functional Assessment, or report of management type being associated with improvement-was analyzed. Improvement rates using ECT, IVIG, and others were compared. Across seven clinics, 51 patients with URDS had regression at age 17.6 years, on average, and showed an average 14.1 out of 28 symptoms. Longitudinal improvement in function was achieved in many patients and the medical management, types of treatment, and their impact on function are described. Management with intravenous immunoglobulin (IVIG) was significantly associated with higher rate of improvement in symptoms at the next visit (p = 0.001). Our longitudinal data demonstrates that URDS is treatable, with various forms of clinical management and has a variable course. The data suggests that IVIG may be an effective treatment in some individuals. Our description of the management approaches used in this cohort lays the groundwork for future research, such as development of standardized objective outcome measure and creation of a clinical practice guideline for URDS.


Asunto(s)
Síndrome de Down , Adolescente , Síndrome de Down/complicaciones , Síndrome de Down/epidemiología , Síndrome de Down/terapia , Humanos , Inmunoglobulinas Intravenosas/uso terapéutico , Evaluación de Resultado en la Atención de Salud , Resultado del Tratamiento , Adulto Joven
10.
Aesthet Surg J ; 42(10): 1109-1116, 2022 09 14.
Artículo en Inglés | MEDLINE | ID: mdl-35348575

RESUMEN

BACKGROUND: Aspiration prior to hyaluronic acid filler injection is often taught as a safety maneuver to minimize the risk of intravascular injection; however, the validity of this technique in aesthetic practice is being increasingly challenged. One key assumption underpinning the validity of the aspiration test is that the needle tip does not move during the aspiration and subsequent injection of filler. OBJECTIVES: The aim of this study was to visualize and measure needle tip movement in real time during aspiration and injection of filler. Secondary objectives were to assess the impact of injector experience and double-handed versus single-handed aspiration technique in maintaining stability of the syringe. METHODS: Under real-time ultrasound visualization, 3 injectors with different levels of experience injected hyaluronic acid filler into pork belly tissue utilizing both double-handed and single-handed aspiration techniques. Needle tip movements were recorded and measured by means of ultrasound and video. RESULTS: The aspiration maneuver is in all cases associated with retrograde movement of the needle tip, ranging from 1.1 to 5.3 mm (mean, 2.9 mm), whereas injection leads to anterograde movement ranging from 0.6 to 4.1 mm (mean, 1.9 mm). Double-handed aspiration is associated with less needle tip movement than single-handed aspiration (P = 0.037). Greater experience is also associated less movement of the needle tip (P < 0.0001). CONCLUSIONS: In all cases, the aspiration and injecting maneuver is associated with micromovements of the needle tip, of a magnitude consistently significant relative to the typical size of facial vessels. Although needle tip movement is only a single factor limiting the usefulness of the aspiration test, the results of this study suggest that it is not advisable to rely only on aspiration as a method to prevent intravascular injection.


Asunto(s)
Ácido Hialurónico , Jeringas , Cara , Humanos , Inyecciones , Agujas
11.
Aesthet Surg J ; 42(1): 89-101, 2022 01 01.
Artículo en Inglés | MEDLINE | ID: mdl-33512439

RESUMEN

BACKGROUND: Aesthetic physicians rely on certain anecdotal beliefs regarding the safe practice of filler injections. These include a presumed safety advantage of bolus injection after a negative aspiration. OBJECTIVES: The authors sought to review and summarize the published literature on inadvertent intravascular injection of hyaluronic acid and to investigate whether the technique of aspiration confers any safety to the practitioner and the patient. METHODS: Pertinent literature was analyzed and the current understanding of the safety of negative and positive aspiration outlined. RESULTS: The available studies demonstrate that aspiration cannot be relied on and should not be employed as a safety measure. It is safer to adopt injection techniques that avoid injecting an intravascular volume with embolic potential than utilize an unreliable test to permit a risky injection. CONCLUSIONS: To prevent intravascular injection, understanding "injection anatomy" and injection plane and techniques such as slow, low-pressure injection are important safety measures. Assurance of safety when delivering a bolus after negative aspiration does not appear to be borne out by the available literature. If there is any doubt about the sensitivity or reliability of a negative aspiration, there is no role for its utilization. Achieving a positive aspiration would just defer the risk to the next injection location where a negative aspiration would then be relied on.


Asunto(s)
Técnicas Cosméticas , Rellenos Dérmicos , Técnicas Cosméticas/efectos adversos , Rellenos Dérmicos/efectos adversos , Humanos , Ácido Hialurónico/efectos adversos , Inyecciones , Inutilidad Médica , Reproducibilidad de los Resultados
12.
Dermatol Ther ; 34(1): e14360, 2021 01.
Artículo en Inglés | MEDLINE | ID: mdl-33002269

RESUMEN

Pre-injection aspiration of hyaluronic acid filler is a well-recognized yet controversial safety technique. Many consider aspiration to be an important safety measure to prevent inadvertent intravascular filler injection. To assess factors influencing pre-injection aspiration by understanding the relationship between aspiration time and a range of product, needle, and procedural characteristics. We conducted a systematic review and meta-analysis of data, adopting the preferred reporting items for systematic reviews and metaanalyses guidelines. Our literature search identified four articles presenting data on variables associated with aspiration time for different HA filler brands. Statistical models pooling data from the four articles suggest a robust association between aspiration time and a filler's elastic modulus (G'), drop weight (cohesivity), and cross-sectional area of the needle lumen. However, there is insufficient evidence to confirm a robust association between aspiration time and HA concentration, viscous modulus (G″), needle length, and pullback volume. A deeper understanding of the relationship between product, needle, and procedural characteristics, and aspiration time can provide a sound base for discussing the role of pre-injection negative aspiration as a safety measure. The understanding of the effect of various factors on preinjection aspiration would further benefit from studies under clinical conditions.


Asunto(s)
Técnicas Cosméticas , Rellenos Dérmicos , Técnicas Cosméticas/efectos adversos , Rellenos Dérmicos/efectos adversos , Humanos , Ácido Hialurónico/efectos adversos , Inyecciones , Agujas
13.
Genet Med ; 22(2): 317-325, 2020 02.
Artículo en Inglés | MEDLINE | ID: mdl-31417190

RESUMEN

PURPOSE: Current American Academy of Pediatrics guidelines for children with Down syndrome (DS) recommend a complete blood count (CBC) at birth and hemoglobin annually to screen for iron deficiency (ID) and ID anemia (IDA) in low-risk children. We aimed to determine if macrocytosis masks the diagnosis of ID/IDA and to evaluate the utility of biochemical and red blood cell indices for detecting ID/IDA in DS. METHODS: We reviewed data from 856 individuals from five DS specialty clinics. Data included hemoglobin, mean corpuscular volume, red cell distribution width (RDW), percent transferrin saturation (TS), ferritin, and c-reactive protein. Receiver operating characteristic curves were calculated. RESULTS: Macrocytosis was found in 32% of the sample. If hemoglobin alone was used for screening, all individuals with IDA would have been identified, but ID would have been missed in all subjects. RDW had the highest discriminability of any single test for ID/IDA. The combination of RDW with ferritin or TS led to 100% sensitivity, and RDW combined with ferritin showed the highest discriminability for ID/IDA. CONCLUSION: We provide evidence to support that a CBC and ferritin be obtained routinely for children over 1 year old with DS rather than hemoglobin alone for detection of ID.


Asunto(s)
Anemia Ferropénica/diagnóstico , Síndrome de Down/metabolismo , Ferritinas/análisis , Anemia/diagnóstico , Proteína C-Reactiva/análisis , Niño , Preescolar , Índices de Eritrocitos/genética , Eritrocitos Anormales/metabolismo , Femenino , Ferritinas/sangre , Enfermedades Hematológicas/metabolismo , Hemoglobinas/análisis , Humanos , Lactante , Hierro/metabolismo , Masculino , Tamizaje Masivo/métodos , Curva ROC
14.
Genet Med ; 22(4): 767-776, 2020 04.
Artículo en Inglés | MEDLINE | ID: mdl-31767984

RESUMEN

PURPOSE: An entity of regression in Down syndrome (DS) exists that affects adolescents and young adults and differs from autism spectrum disorder and Alzheimer disease. METHODS: Since 2017, an international consortium of DS clinics assembled a database of patients with unexplained regression and age- and sex-matched controls. Standardized data on clinical symptoms and tiered medical evaluations were collected. Elements of the proposed definition of unexplained regression in DS were analyzed by paired comparisons between regression cases and matched controls. RESULTS: We identified 35 patients with DS and unexplained regression, with a mean age at regression of 17.5 years. Diagnostic features differed substantially between regression cases and matched controls (p < 0.001 for all but externalizing behaviors). Patients with regression had four times as many mental health concerns (p < 0.001), six times as many stressors (p < 0.001), and seven times as many depressive symptoms (p < 0.001). Tiered medical evaluation most often identified abnormalities in vitamin D 25-OH levels, polysomnograms, thyroid peroxidase antibodies, and celiac screens. Analysis of the subset of patients with nondiagnostic medical evaluations reinforced the proposed definition. CONCLUSIONS: Our case-control evidence supports a proposed definition of unexplained regression in Down syndrome. Establishing this clinical definition supports future research and investigation of an underlying mechanism.


Asunto(s)
Trastorno del Espectro Autista , Síndrome de Down , Adolescente , Estudios de Casos y Controles , Bases de Datos Factuales , Síndrome de Down/diagnóstico , Síndrome de Down/epidemiología , Humanos , Adulto Joven
15.
Int J Eat Disord ; 53(9): 1496-1505, 2020 09.
Artículo en Inglés | MEDLINE | ID: mdl-32666600

RESUMEN

OBJECTIVE: Eating disorders develop as a result of genetic and environmental factors. Given that they are multifactorial conditions with a genetic component, they fall within the scope of practice for genetic counseling, but people with these conditions are rarely referred. The purpose of this study was to explore the perceptions of causes of eating disorders, recurrence risk, and interest in genetic counseling and testing among individuals with eating disorders. METHOD: An online survey comprising both multiple choice and free form text questions, vignettes about genetic counseling, and the ED100K (validated eating disorder diagnostic questionnaire) was shared via support organizations and prominent bloggers in the eating disorders community to recruit individuals with a personal history of an eating disorder from November 2018 to February 2019. RESULTS: In total, 107 participants completed the survey. They perceived that both experiences and genetics were important factors in the development of their eating disorder. All responding participants overestimated the risk for recurrence of eating disorders in children, often by a large margin, and a notable minority reported that their experience with an eating disorder had a negative influence on their childbearing decisions. After imagined experience of genetic counseling, participants reported significantly decreased feelings of stigma, shame, and guilt. Most participants expressed interest in genetic counseling; fewer were interested in genetic testing. DISCUSSION: Genetic counseling may benefit individuals with eating disorders by providing accurate recurrence risk information and reducing feelings of guilt, stigma, and shame, which may in turn encourage earlier support seeking and recovery.


Asunto(s)
Consejo/métodos , Trastornos de Alimentación y de la Ingestión de Alimentos/diagnóstico , Pruebas Genéticas/métodos , Adolescente , Adulto , Trastornos de Alimentación y de la Ingestión de Alimentos/genética , Femenino , Humanos , Masculino , Persona de Mediana Edad , Percepción , Factores de Riesgo , Encuestas y Cuestionarios , Adulto Joven
16.
Australas J Dermatol ; 61(3): 217-225, 2020 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-32201935

RESUMEN

Facial aesthetic treatment with injectable neuromodulators and hyaluronic acid fillers is well established, with favourable safety profiles and consistent outcomes. As with any medical treatment, adverse events and complications may occur. Adverse events associated with these products are typically transient and mild to moderate in severity. Serious adverse events, such as infection and intravascular occlusion, are rare. Proper patient selection, consent and counselling, preparation and impeccable injection technique are important risk reduction strategies. Both clinicians and patients must be alert to the signs and symptoms of complications so that appropriate treatment can be started promptly. In this article, the authors review the current literature and provide their consensus recommendations for minimising adverse outcomes when treating patients with botulinum toxin or hyaluronic acid fillers.


Asunto(s)
Toxinas Botulínicas Tipo A/efectos adversos , Técnicas Cosméticas/efectos adversos , Rellenos Dérmicos/efectos adversos , Ácido Hialurónico/efectos adversos , Fármacos Neuromusculares/efectos adversos , Consenso , Contusiones/inducido químicamente , Contusiones/prevención & control , Consejo Dirigido , Edema/inducido químicamente , Edema/prevención & control , Eritema/inducido químicamente , Eritema/prevención & control , Cara , Hematoma/inducido químicamente , Hematoma/prevención & control , Humanos , Reacción en el Punto de Inyección/etiología , Reacción en el Punto de Inyección/prevención & control , Inyecciones/efectos adversos , Dolor/inducido químicamente , Dolor/prevención & control , Educación del Paciente como Asunto , Selección de Paciente
17.
Australas J Dermatol ; 61(4): 362-366, 2020 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-32779184

RESUMEN

Despite the recent publication in March 2020 of guidelines for facial injectable treatments, the speed of the COVID-19 pandemic and its safety implications necessitate changes to these guidelines The authors described what would constitute safest practice in the provision of facial injectable treatments and summarised these in table form. Adherence to a high standard of asepsis and infectious disease precautions remain a key patient safety requirement when performing facial aesthetic injections. A revision and update of these guideline summary tables follows. Changes made should enhance both patient and staff safety regarding COVID-19/SARS-CoV-2, a highly infective respiratory pathogen transmitted by respiratory droplets, respiratory/mucosal secretions and contaminated fomites. Some of the additions are COVID-19 specific and are likely to evolve and change, particularly should serological tests determining acquired immunity become available. Other additions represent further tightening of our infection control precautions.


Asunto(s)
COVID-19/prevención & control , Técnicas Cosméticas/normas , Dermatología/normas , Control de Infecciones/normas , Guías de Práctica Clínica como Asunto , Instituciones de Atención Ambulatoria/organización & administración , Toxinas Botulínicas/administración & dosificación , COVID-19/diagnóstico , Consenso , Rellenos Dérmicos/administración & dosificación , Humanos , Tamizaje Masivo , Equipo de Protección Personal , SARS-CoV-2 , Telemedicina
18.
Aesthet Surg J ; 40(9): 1009-1021, 2020 08 14.
Artículo en Inglés | MEDLINE | ID: mdl-31693068

RESUMEN

BACKGROUND: Hyaluronic acid fillers have a satisfactory safety profile. However, adverse reactions do occur, and rarely intravascular injection may lead to blindness. Currently there is no internationally recognized consensus on the prevention or management of blindness from hyaluronic acid filler. OBJECTIVES: The authors sought to give guidance on how to minimize the risk and optimize the management of this rare but catastrophic adverse reaction. METHODS: A multinational group of experts in cosmetic injectables from multiple disciplines convened to review current best practice and develop updated consensus recommendations for prevention and bedside intervention if visual loss occurs after cosmetic injection of hyaluronic acid filler. RESULTS: The consensus group provided specific recommendations focusing on the consenting process, prevention, and early management of visual impairment related to intravascular hyaluronic acid filler injection. CONCLUSIONS: Although visual loss due to filler injections is rare, it is important that both patient and physician be aware of this risk. In this paper the authors describe methods and techniques available to reduce the risk and also document suggested initial management should a clinician find themselves in this situation.


Asunto(s)
Técnicas Cosméticas , Rellenos Dérmicos , Ceguera/inducido químicamente , Ceguera/prevención & control , Consenso , Técnicas Cosméticas/efectos adversos , Rellenos Dérmicos/efectos adversos , Humanos , Ácido Hialurónico/efectos adversos
19.
Glob Chang Biol ; 25(3): 869-884, 2019 03.
Artículo en Inglés | MEDLINE | ID: mdl-30570807

RESUMEN

Future changes in climate are widely anticipated to increase fire frequency, particularly in boreal forests where extreme warming is expected to occur. Feedbacks between vegetation and fire may modify the direct effects of warming on fire activity and shape ecological responses to changing fire frequency. We investigate these interactions using extensive field data from the Boreal Shield of Saskatchewan, Canada, a region where >40% of the forest has burned in the past 30 years. We use geospatial and field data to assess the resistance and resilience of eight common vegetation states to frequent fire by quantifying the occurrence of short-interval fires and their effect on recovery to a similar vegetation state. These empirical relationships are combined with data from published literature to parameterize a spatially explicit, state-and-transition simulation model of fire and forest succession. We use this model to ask if and how: (a) feedbacks between vegetation and wildfire may modify fire activity on the landscape, and (b) more frequent fire may affect landscape forest composition and age structure. Both field and GIS data suggest the probability of fire is low in the initial decades after fire, supporting the hypothesis that fuel accumulation may exert a negative feedback on fire frequency. Field observations of pre- and postfire composition indicate that switches in forest state are more likely in conifer stands that burn at a young age, supporting the hypothesis that resilience is lower in immature stands. Stands dominated by deciduous trees or jack pine were generally resilient to fire, while mixed conifer and well-drained spruce forests were less resilient. However, simulation modeling suggests increased fire activity may result in large changes in forest age structure and composition, despite the feedbacks between vegetation-fire likely to occur with increased fire activity.


Asunto(s)
Taiga , Tracheophyta/parasitología , Incendios Forestales , Cambio Climático , Monitoreo del Ambiente , Modelos Teóricos , Saskatchewan , Especificidad de la Especie , Factores de Tiempo , Tracheophyta/clasificación , Tracheophyta/crecimiento & desarrollo
20.
Am J Med Genet A ; 179(1): 85-93, 2019 01.
Artículo en Inglés | MEDLINE | ID: mdl-30569586

RESUMEN

Measures of adaptive behavior are important in the assessment and treatment of individuals with intellectual disabilities (ID). The purpose of the current study was to evaluate the stability of an established and a novel measure of adaptive behavior over time, and their suitability as outcome measures in clinical trials targeting individuals with Down syndrome (DS). This 6-month, longitudinal, noninterventional, multinational study included adolescents (12-17 years) and adults (18-30 years) with DS. Participants were from seven countries (11 different sites) with English, Spanish and French as their native language. The Vineland Adaptive Behavior Scales-II (VABS-II) and a newly developed Clinician Global Impression (CGI) scale were administered at baseline, 1 and 6 months. Adults had lower composite standard scores on all domains of the VABS-II compared with adolescents. The communication domain was a weakness relative to the socialization and daily living skills domains on the VABS-II and the CGI-Severity scale. These findings were stable over 6 months, as exhibited by high intraclass correlations (>0.75). These results provide valuable baseline data for use in trial design and endpoint selection for studies including individuals with DS. ClinicalTrials.gov identifier: NCT01580384.


Asunto(s)
Adaptación Psicológica , Síndrome de Down/genética , Discapacidad Intelectual/fisiopatología , Actividades Cotidianas/psicología , Adolescente , Adulto , Niño , Síndrome de Down/fisiopatología , Femenino , Humanos , Discapacidad Intelectual/psicología , Estudios Longitudinales , Masculino , Socialización , Adulto Joven
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA