RESUMEN
BACKGROUND: Historically, individuals with Down syndrome have been excluded from clinical research. Our objective was to assess the degree of interest adults with Down syndrome have in participating in research from the perspective of the caregivers who care for them. METHODS: We conducted an online survey of N = 390 caregivers of adults with Down syndrome and asked about interest in research participation and demographics. RESULTS: Caregivers were mostly family members, older than 55 years, and White. Caregivers reported that the adult with Down syndrome that they cared for would be more comfortable participating in research that was physiological, such as research involving fit bits (70.2% would participate), exercise (63.3%) or diet apps (53.9%), whereas they would be less likely to participate in clinical trials involving more invasive procedures such as injections (10.9%) and laboratory exams like MRIs (32.0%). We found little difference by age or gender of the adult with Down syndrome or by caregiver education level. CONCLUSIONS: Our survey identified high interest for less invasive studies, illustrating acceptability of observational and lifestyle studies. More effort may be needed to understand fear and barriers to participation and to create tools and methods to increase interest in more invasive studies.
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Cuidadores , Síndrome de Down , Humanos , Adulto , Familia , Encuestas y Cuestionarios , PercepciónRESUMEN
BACKGROUND: Down syndrome (DS) population has a very high prevalence of obstructive sleep apnoea (OSA), but this remains underdiagnosed. Hence, we aimed to evaluate caregiver's knowledge of OSA and related sociodemographic factors that could contribute to OSA screening patterns in this population. METHODS: An online survey though the LuMind IDSC Foundation focused on OSA diagnosis, treatments and the number of sleep studies performed. Data were compared between subjects born before and after the American Academy of Pediatrics (AAP) recommendations for OSA screening. RESULTS: Of the caregivers, 724 (parents 96.3%), responded to the survey. The median [interquartile (IQR)] age of the subjects with DS was 12 [20;7] years. The majority (84.3%) had sleep apnoea diagnosis, and half of them were initially referred for a sleep study due to disturbed sleep symptoms. Only 58.7% of the responders were aware of the AAP recommendations. This was linked to higher socioeconomic and/or educational level and to an earlier OSA diagnosis. The median (IQR) age of OSA diagnosis was lowered after the AAP guidelines publication compared with before its publication (3 [4;2] years vs. 10 [18;5] years, P < 0.000). Adenotonsillectomy (81.9%) and continuous positive airway pressure (61.5%) were the most commonly prescribed treatments. Few had discussed other new therapies such as hypoglossal nerve stimulation (16.0%). Only 16.0% of the subjects repeated the sleep study to monitor OSA with ageing, and 30.2% had to wait more than 4 years between studies. CONCLUSIONS: This study reinforces the need to improve OSA knowledge of caregivers and clinicians of individuals with DS to promote an earlier diagnosis and optimal treatment of OSA in this population.
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Síndrome de Down , Apnea Obstructiva del Sueño , Niño , Humanos , Preescolar , Síndrome de Down/complicaciones , Síndrome de Down/terapia , Apnea Obstructiva del Sueño/diagnóstico , Apnea Obstructiva del Sueño/epidemiología , Apnea Obstructiva del Sueño/terapia , Polisomnografía , Sueño , PrevalenciaRESUMEN
Systematic designed experiments were employed to find the optimum conditions for extraction of direct, reactive, and vat dyes from cotton fibers prior to forensic characterization. Automated microextractions were coupled with measurements of extraction efficiencies on a microplate reader UV-visible spectrophotometer to enable rapid screening of extraction efficiency as a function of solvent composition. Solvent extraction conditions were also developed to be compatible with subsequent forensic characterization of extracted dyes by capillary electrophoresis with UV-visible diode array detection. The capillary electrophoresis electrolyte successfully used in this work consists of 5 mM ammonium acetate in 40:60 acetonitrile-water at pH 9.3, with the addition of sodium dithionite reducing agent to facilitate analysis of vat dyes. The ultimate goal of these research efforts is enhanced discrimination of trace fiber evidence by analysis of extracted dyes.
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Fractional flow reserve (FFR) has been applied with success as a lesion-specific functional indicator of stenosis severity, at least in patients with normal microcirculation. This study sought to assess the reliability of FFR calculations in patients with associated microvascular dysfunction (e.g., post myocardial infarction, or post-MI). First, the effect of coronary flow changes on translesional pressure gradient was assessed. Therefore, intracoronary pressure and flow was recorded simultaneously across 19 non-infarct-related lesions (both pre- and postinterventional lesions with a mean diameter stenosis of 47% +/- 12%). Measurements were performed by means of a pressure and Doppler wire during maximal hyperemia and also during submaximal hyperemia induced by low-dose adenosine. The drop of coronary flow from 48 +/- 23 ml/min during maximal hyperemia to 36 +/- 18 ml/min during submaximal hyperemia was associated with a small decrease in translesional pressure gradient (from 22 +/- 12 mm Hg to 19 +/- 12 mm Hg; P = 0.02) and a small increase in the mean distal/arterial pressure ratio (Pd/Pa) going from 77% +/- 11% to 81% +/- 11% (P = 0.003). Then, intracoronary pressure and flow measurements were compared across 21 non-infarct-related lesions vs. 22 matched infarct-related lesions. For a similar angiographic stenosis severity (% DS = +/- 44%), maximal flow was 48 +/- 22 ml/min in the non-infarct arteries and 37 +/- 26 ml/min in the infarct arteries (P = 0.03), confirming the presence of severe microvascular dysfunction in infarct regions. Similar to the earlier findings, this hyperemic flow reduction in MI patients was associated with a small increase of FFR (= Pd/Pa): 79% +/- 12% in no MI vs. 83% +/- 12% in MI patients (P = 0.3). A reduction of hyperemic flow by +25%, [correction] such as can be found in patients with severely impaired microvascular function, has a limited effect on FFR calculations (+ 5%). This finding allows the application of standard FFR calculations in a more general population of ischemic heart disease, including patients with recent MI.
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Velocidad del Flujo Sanguíneo/fisiología , Disfunción Ventricular/complicaciones , Disfunción Ventricular/fisiopatología , Anciano , Presión Sanguínea/fisiología , Angiografía Coronaria , Circulación Coronaria/fisiología , Estenosis Coronaria/complicaciones , Estenosis Coronaria/fisiopatología , Humanos , Hiperemia/complicaciones , Hiperemia/fisiopatología , Masculino , Persona de Mediana Edad , Infarto del Miocardio/complicaciones , Infarto del Miocardio/fisiopatología , Reproducibilidad de los Resultados , Índice de Severidad de la EnfermedadRESUMEN
Skin cancer is the most common malignancy occurring in humans, and the incidence of basal cell carcinoma, squamous cell carcinoma, and melanoma continues to rise. Advances in the diagnosis and treatment of skin cancer have led to more successful management of these tumors. A number of options for the treatment of skin cancer are available to the patient and physician, allowing for high cure rates and excellent functional and cosmetic outcomes.
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Neoplasias Cutáneas/radioterapia , Neoplasias Cutáneas/cirugía , Criocirugía , Humanos , Terapia por LáserAsunto(s)
Carcinoma de Apéndice Cutáneo/diagnóstico , Cuero Cabelludo , Enfermedades de la Piel/diagnóstico , Neoplasias Cutáneas/diagnóstico , Anciano , Anciano de 80 o más Años , Carcinoma de Apéndice Cutáneo/patología , Carcinoma de Apéndice Cutáneo/cirugía , Diagnóstico Diferencial , Humanos , Masculino , Cirugía de Mohs , Enfermedades de la Piel/patología , Enfermedades de la Piel/cirugía , Neoplasias Cutáneas/patología , Neoplasias Cutáneas/cirugíaRESUMEN
Although pleomorphic adenomas are the most common neoplasms of salivary gland origin, our knowledge of the etiology, growth, and recurrence patterns, and significance of the varying histologic features of these tumors, remains limited. We present the case of a 66-year-old man with an unusual presentation of a pleomorphic adenoma, and review the important clinical and pathologic features of this entity.
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Adenoma Pleomórfico/diagnóstico , Neoplasias de las Glándulas Salivales/diagnóstico , Adenoma Pleomórfico/patología , Adenoma Pleomórfico/cirugía , Anciano , Carcinoma Basocelular/complicaciones , Diagnóstico Diferencial , Neoplasias de Cabeza y Cuello/complicaciones , Humanos , Masculino , Neoplasias de las Glándulas Salivales/patología , Neoplasias de las Glándulas Salivales/cirugía , Neoplasias Cutáneas/complicacionesRESUMEN
Bronchiolitis obliterans organizing pneumonia (BOOP) is rarely associated with dermatomyositis and may be resistant to conventional corticosteroid therapy under this circumstance. We present a case of BOOP associated with dermatomyositis that responded to a combination of cyclophosphamide and corticosteroid therapy after corticosteroid treatments, alone, had failed. We believe this case shows it is important to recognize that facial rash in the presence of respiratory distress may represent dermatomyositis with BOOP and aggressive treatment may be necessary for resolution of pulmonary symptoms.
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Neumonía en Organización Criptogénica/diagnóstico , Dermatomiositis/diagnóstico , Adulto , Neumonía en Organización Criptogénica/tratamiento farmacológico , Ciclofosfamida/uso terapéutico , Dermatomiositis/tratamiento farmacológico , Diagnóstico Diferencial , Quimioterapia Combinada , Femenino , Humanos , Prednisona/uso terapéuticoRESUMEN
Clinically significant immunological reactions to exogenous insulin are classified as local or generalized. Most of the insulin allergies are local reactions which usually improve or resolve spontaneously. Generalized allergic reactions to insulin range in severity from simple urticaria to life-threatening anaphylaxis. Most of the allergic reactions to exogenous insulin are antibody-mediated reactions to antigens such as zinc, protamine, non-insulin proteins, and aggregates of insulin molecules as well as animal antigens. Immunologic reactions to endogenous insulin usually result in insulin resistance. Herein, we report a case in which systemic insulin allergy was intractable, thus requiring a pancreas transplantation which is the first of its case according to the International Pancreas Transplant Registry/United Network for Organ Sharing (IPTR/UNOS) Registry.
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Diabetes Mellitus Tipo 1/cirugía , Hipersensibilidad a las Drogas/etiología , Insulina/efectos adversos , Trasplante de Páncreas , Adulto , Diabetes Mellitus Tipo 1/complicaciones , Femenino , Humanos , Insulina/inmunologíaRESUMEN
The Speech Intelligibility Index (SII) was measured for Navy divers participating in two saturation deep dives and for a group of nondivers to test different communication systems and their components. These SIIs were validated using the Speech Perception in Noise (SPIN) test and the Griffiths version of the Modified Rhyme Test (GMRT). Our goal was to determine if either of these assessments was sensitive enough to provide an objective measure of speech intelligibility when speech was processed through different helmets and helium speech unscramblers (HSUs). Results indicated that SII values and percent intelligibility decreased incrementally as background noise level increased. SIIs were very reliable across the different groups of subjects indicating that the SII was a strong measurement for predicting speech intelligibility to compare linear system components such as helmets. The SII was not useful in measuring intelligibility through nonlinear devices such as HSUs. The speech intelligibility scores on the GMRT and SPIN tests were useful when the system component being compared had a large measurable difference, such as in helmet type. However, when the differences were more subtle, such as differences in HSUs, neither the SPIN nor the GMRT appeared sensitive enough to make such distinctions. These results have theoretical as well as practical value for measuring the quality and intelligibility of helium speech enhancement systems.
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Ambiente , Helio , Inteligibilidad del Habla , Percepción del Habla/fisiología , Adolescente , Adulto , Buceo , HumanosRESUMEN
BACKGROUND: Dysplastic melanocytic nevi (DMN) are thought to represent a clinical and histologic bridge between common pigmented nevi and superficial spreading malignant melanoma. The following clinical criteria for DMN were established to aid in the proper identification of these lesions: irregular perimeter, size exceeding 5 mm in diameter, background erythema, and variegated color (shades of browns, tans, blacks, and reds). Histologic features include basilar melanocytic proliferation with nuclear atypia, a patchy lymphocytic infiltrate with concentric eosinophilic fibroplasia, and lamellar fibroplasia. To our knowledge, there have been no previously reported cases of uniformly nonpigmented DMN. OBSERVATIONS: A 31-year-old brown-haired, browneyed white woman with no personal or family history of either DMN or melanoma presented for evaluation of numerous, discrete, nonindurated, 2- to 5-mm-diameter, nonpigmented macules and slightly elevated papules that had appeared in a truncal distribution over the course of several years. Microscopic examination of these lesions showed lentiginous epidermal hyperplasia and disordered proliferation with variable cellular atypia of intraepidermal melanocytes. CONCLUSIONS: Nonpigmented, nonindurated, macular or slightly elevated papular lesions may represent nevi with features of dysplasia. In light of the significant risk of malignant melanoma that is associated with pigmented varieties of dysplastic nevi, it is essential that clinicians consider nonpigmented DMN in the differential diagnosis of entities that present as hypopigmented macules.
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Síndrome del Nevo Displásico/patología , Neoplasias Cutáneas/patología , Adulto , Femenino , HumanosAsunto(s)
Conservación de los Recursos Energéticos/economía , Servicio de Mantenimiento e Ingeniería en Hospital/economía , Programas Informáticos , Integración de Sistemas , Aire Acondicionado/economía , Automatización , Servicios Contratados , Ahorro de Costo , Costos y Análisis de Costo , Suministros de Energía Eléctrica/economía , Estados UnidosAsunto(s)
Carcinoma de Células Escamosas/complicaciones , Ictiosis/complicaciones , Neoplasias Cutáneas/complicaciones , Adulto , Alopecia/complicaciones , Alopecia/patología , Carcinoma de Células Escamosas/patología , Oído Externo/anomalías , Ectropión/complicaciones , Ectropión/patología , Femenino , Estudios de Seguimiento , Humanos , Ictiosis/patología , Queratosis/patología , Recurrencia Local de Neoplasia/patología , Neoplasias Cutáneas/patología , SíndromeRESUMEN
BACKGROUND: Many clinicians believe infiltrative basal cell carcinoma (BCC) is a more difficult tumor to eradicate than nodular BCC because the growth of infiltrative BCC is not easy to detect clinically. However, data supporting this observation are largely anecdotal. OBJECTIVE: Our purpose was to show that infiltrative BCC have wider and deeper tumor extensions than nodular BCC of similar clinical size. METHODS: In this retrospective study, 139 cases of infiltrative BCC excised by Mohs micrographic surgery (MMS) were matched to a control group of 139 cases of nodular BCC similarly excised. They were paired by site, size, number of recurrences, age, gender, and previous treatment type. The cases were selected and paired by computer from 1197 consecutive BCC (primary and recurrent) referred for MMS over a 5-year period. MMS technique allowed us to quantitate the extent of tumor spread using three measurements: the number of surgical stages required for complete removal of tumor, the width of tissue required to remove subclinical extension of tumor, and the depth of defect at completion of MMS. RESULTS: Analysis showed the infiltrative BCC was more difficult to detect and to eradicate than the nodular BCC. The number of surgical stages required for complete removal of tumor, the width of tissue required to remove subclinical extension of tumor, and the depth of defect at completion of MMS were all greater with infiltrative BCC when compared with nodular BCC regardless of whether cases were primary or recurrent. These differences were all statistically significant. CONCLUSION: Infiltrative BCC can be significantly more destructive than nodular BCC because tumor extension is difficult to detect clinically. Clinicians should treat infiltrative BCC with its potential for convert invasion in mind.
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Carcinoma Basocelular/patología , División Celular/fisiología , Cirugía de Mohs , Neoplasias Cutáneas/patología , Adulto , Anciano , Carcinoma Basocelular/cirugía , Estudios de Casos y Controles , Procedimientos Quirúrgicos Dermatologicos , Neoplasias Faciales/patología , Neoplasias Faciales/cirugía , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Invasividad Neoplásica , Recurrencia Local de Neoplasia/patología , Recurrencia Local de Neoplasia/cirugía , Estadificación de Neoplasias , Reoperación , Estudios Retrospectivos , Piel/patología , Neoplasias Cutáneas/cirugía , Programas Informáticos , Resultado del Tratamiento , Cicatrización de Heridas/fisiologíaRESUMEN
A single case of Rubinstein-Taybi syndrome associated with numerous giant keloids is reported. The patient manifested all the major features of Rubinstein-Taybi syndrome. The cause of this multisystem developmental disorder is unknown.
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Queloide/diagnóstico , Síndrome de Rubinstein-Taybi/diagnóstico , Adulto , Aberraciones Cromosómicas/genética , Deleción Cromosómica , Trastornos de los Cromosomas , Cromosomas Humanos Par 16 , Genes Dominantes , Humanos , Queloide/genética , Queloide/patología , Masculino , Síndrome de Rubinstein-Taybi/genética , Síndrome de Rubinstein-Taybi/patología , Piel/patologíaRESUMEN
BACKGROUND AND DESIGN: Micronodular basal cell carcinoma (BCC) is thought to have a greater potential for clinically surreptitious tumor spread compared with the majority of BCCs that are nodular. However, most supporting data are anecdotal. This study gives objective evidence that micronodular BCCs have wider and deeper tumor extensions than nodular BCCs of similar clinical size. In this retrospective study, 69 cases of micronodular BCC excised by Mohs' micrographic surgery (MMS) were matched to a control group of 69 cases of nodular BCC that were similarly excised. They were paired by site, size, number of recurrences, age, gender, and previous treatment type. The cases were selected and paired by computer from 1070 consecutive BCCs (primary and recurrent) referred for MMS over a 4-year period. The MMS technique allowed us to quantitate and compare the extent of tumor spread using three measurements: the number of surgical stages required for complete removal of the tumor, the width of tissue required to remove subclinical extension of tumor, and the depth of defect at completion of MMS. RESULTS: Analysis showed the micronodular BCC to have significantly more covert tumor extension, making it more difficult to detect and to eradicate than the nodular BCC. The number of surgical stages required for complete removal of tumor, the width of tissue required to remove subclinical extension of tumor, and the depth of defect at completion of MMS were all greater with micronodular BCCs when compared with nodular BCCs regardless of whether cases were primary or recurrent. These differences were all statistically significant. CONCLUSIONS: Micronodular BCCs can be significantly more destructive than nodular BCCs because tumor extension is difficult to detect clinically. When treating micronodular BCC, clinicians should keep in mind its potential for clandestine invasion.
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Carcinoma Basocelular/patología , Neoplasias Cutáneas/patología , Anciano , Carcinoma Basocelular/cirugía , Femenino , Humanos , Masculino , Persona de Mediana Edad , Invasividad Neoplásica , Estadificación de Neoplasias , Neoplasias Cutáneas/cirugíaRESUMEN
A healthy boy had the distinctive lesions of erythrokeratodermia variabilis (EKV) at birth. Twenty-eight patients described in the literature had EKV that presented in childhood. Nine of the 28 were said to have had a rash since birth, but none were distinctive of EKV. To our knowledge this is the first well-documented case describing a child born with the skin manifestations of EKV. We conclude that patients with EKV are infrequently born with a rash, and that only very rarely when the rash is present is it suggestive of the disorder.