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Congenital anterior urethral diverticulum (CAUD) is an uncommon abnormality of the male urethra. In the literature, cases of CAUD affecting both children within a set of identical twins or presenting concomitantly with another urethral condition are exceedingly rare. We describe 2 cases of CAUD in identical twins: a pair of newborns in which Twin 1A and Twin 1B both present with CAUD, and a second pair of newborns in which only Twin 2A presents with CAUD along with a partial collateral urethral duplication. In doing so, we aim to add to the incomplete literature on the embryological development of CAUD.
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Divertículo , Enfermedades Uretrales , Obstrucción Uretral , Niño , Humanos , Masculino , Recién Nacido , Gemelos Monocigóticos , Uretra/cirugía , Uretra/anomalías , Enfermedades Uretrales/diagnóstico , Enfermedades Uretrales/cirugía , Enfermedades Uretrales/congénito , Divertículo/diagnóstico , Divertículo/cirugíaRESUMEN
Hepatocellular carcinoma (HCC) arises from several different etiologies and carries a poor prognosis. Extrahepatic metastases of HCC are most frequently found in the lungs, lymph nodes, and bones, with adrenal metastases reported in less than 15% of metastatic cases. Herein, we report a case of a 71-year-old man without prior liver disease who presented with a 9-cm right adrenal mass extending into the IVC consistent with HCC on subsequent surgical pathology and immunohistochemical staining. Etiological possibilities for an adrenal tumor as the first presentation of HCC include metastasis from occult primary liver HCC, intra-adrenal hepatic heterotopia, and adrenohepatic fusion.
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BACKGROUND: In the SARS-CoV-2/COVID-19 pandemic, we need to understand the impact of immunomodulatory medications on COVID-19 symptom severity in patients with inflammatory diseases, including the type 2/Th2 polarized skin disease, atopic dermatitis (AD). OBJECTIVE: Because it is believed that type 1/Th1 immunity controls viral infections and that there is a Th1/Th2 counter-regulation, we hypothesized that Th2 targeting with the IL-4Rα-antagonist, dupilumab, in patients with moderate-to-severe AD would rebalance the Th1/Th2 axis, potentially leading to attenuated COVID-19 symptoms. METHODS: A total of 1237 patients with moderate-to-severe AD in the Icahn School of Medicine at Mount Sinai Department of Dermatology were enrolled in a registry. Patients were screened for COVID-19-related symptoms and assigned a severity score (asymptomatic [0]-fatal [5]). Scores were compared among 3 treatment groups: dupilumab (n = 632), other systemic treatments (n = 107), and limited/no treatment (n = 498). Demographic and comorbid covariates were adjusted by multivariate generalized logistic regression models. RESULTS: The dupilumab-treated group showed reduced incidence and severity of COVID-19 symptoms versus other treatment groups. Dupilumab-treated patients were less likely to experience moderate-to-severe symptoms versus patients on other systemics (P = .01) and on limited/no treatment (P = .04), and less likely to experience any symptoms versus patients on other systemics (P = .01). This effect was seen in our entire cohort and in the subgroup of patients with verified COVID-19 or high-risk exposure. CONCLUSIONS: Patients on dupilumab experienced less severe COVID-19 manifestations and lesser symptoms compared with patients on other systemics and on limited/no treatment. These results suggest that Th2 modulation with dupilumab may have a protective effect on anti-viral immune response in patients with AD.
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Anticuerpos Monoclonales Humanizados/uso terapéutico , Tratamiento Farmacológico de COVID-19 , COVID-19 , Dermatitis Atópica , COVID-19/complicaciones , Dermatitis Atópica/complicaciones , Dermatitis Atópica/tratamiento farmacológico , Humanos , Pandemias , Índice de Severidad de la Enfermedad , Resultado del TratamientoRESUMEN
The COVID-19 pandemic has created unique challenges for the U.S. healthcare system due to the staggering mismatch between healthcare system capacity and patient demand. The healthcare industry has been a relatively slow adopter of digital innovation due to the conventional belief that humans need to be at the center of healthcare delivery tasks. However, in the setting of the COVID-19 pandemic, artificial intelligence (AI) may be used to carry out specific tasks such as pre-hospital triage and enable clinicians to deliver care at scale. Recognizing that the majority of COVID-19 cases are mild and do not require hospitalization, Partners HealthCare (now Mass General Brigham) implemented a digitally-automated pre-hospital triage solution to direct patients to the appropriate care setting before they showed up at the emergency department and clinics, which would otherwise consume resources, expose other patients and staff to potential viral transmission, and further exacerbate supply-and-demand mismatching. Although the use of AI has been well-established in other industries to optimize supply and demand matching, the introduction of AI to perform tasks remotely that were traditionally performed in-person by clinical staff represents a significant milestone in healthcare operations strategy.
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Inteligencia Artificial , COVID-19 , Prestación Integrada de Atención de Salud/organización & administración , Triaje/métodos , Toma de Decisiones Clínicas/métodos , Líneas Directas/estadística & datos numéricos , Humanos , Massachusetts , Pandemias , Gestión de la Salud PoblacionalRESUMEN
Clinical decision support (CDS) systems are prevalent in electronic health records and drive many safety advantages. However, CDS systems can also cause unintended consequences. Monitoring programs focused on alert firing rates are important to detect anomalies and ensure systems are working as intended. Monitoring efforts do not generally include system load and time to generate decision support, which is becoming increasingly important as more CDS systems rely on external, web-based content and algorithms. We report a case in which a web-based service caused significant increase in the time to generate decision support, in turn leading to marked delays in electronic health record system responsiveness, which could have led to patient safety events. Given this, it is critical to consider adding decision support-time generation to ongoing CDS system monitoring programs.
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Nube Computacional , Sistemas de Apoyo a Decisiones Clínicas , Registros Electrónicos de Salud , Humanos , Sistemas de Entrada de Órdenes Médicas , Estudios de Casos Organizacionales , Factores de TiempoRESUMEN
AIMS: To analyze mathematical relationships between timed Self-Monitored Blood Glucose (SMBG) and HbA1c, and to identify the SMBG values that correlate most strongly with HbA1c. METHODS: We utilized the average premeal (Pre) and 90-min postmeal (Post) SMBG results from 547 A1c-Derived Average Glucose (ADAG) study participants (285 type 1, 178 type 2 and 84 non-diabetic) to analyze the mathematical relationships with HbA1c levels. Specific times of daily SMBG that best correlate with HbA1c were identified. RESULTS: Linear regression analyses showed the following correlations for Pre and Post, Pre only and Post only, respectively: HbA1câ¯=â¯2.488â¯+â¯0.018â¯×â¯Premg/dlâ¯+â¯0.012â¯×â¯Postmg/dl, R2â¯=â¯0.741, Pâ¯<â¯0.0001; HbA1câ¯=â¯2.887â¯+â¯0.029â¯×â¯Premg/dl, R2â¯=â¯0.695, Pâ¯<â¯0.0001; and HbA1câ¯=â¯2.815â¯+â¯0.025â¯×â¯Postmg/dl, R2â¯=â¯0.657, Pâ¯<â¯0.0001. Among patients with type 2 diabetes mellitus (DM), of the 6 individual timepoints, pre-dinner SMBG had the strongest correlation with HbA1c (R2â¯=â¯0.577). This was followed by pre-breakfast (R2â¯=â¯0.562). Examining combinations of timepoints revealed that pre-breakfastâ¯+â¯pre-dinner (R2â¯=â¯0.666) performed similarly to the full 6-timepoints (pre-mealsâ¯+â¯post-meals, R2â¯=â¯0.712). CONCLUSIONS: We have established mathematical relationships between HbA1c and timed SMBG values and identified pre-dinner and pre-breakfast as the two SMBG timepoints that best correlate with HbA1c in patients with type 2 DM.
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Automonitorización de la Glucosa Sanguínea/métodos , Glucemia/metabolismo , Diabetes Mellitus Tipo 1/sangre , Diabetes Mellitus Tipo 2/sangre , Hemoglobina Glucada/metabolismo , Glucemia/análisis , Femenino , Hemoglobina Glucada/análisis , Humanos , MasculinoRESUMEN
BACKGROUND: In recent years, wearable devices have become increasingly attractive and the health care industry has been especially drawn to Google Glass because of its ability to serve as a head-mounted wearable device. The use of Google Glass in surgical settings is of particular interest due to the hands-free device potential to streamline workflow and maintain sterile conditions in an operating room environment. OBJECTIVE: The aim is to conduct a systematic evaluation of the literature on the feasibility and acceptability of using Google Glass in surgical settings and to assess the potential benefits and limitations of its application. METHODS: The literature was searched for articles published between January 2013 and May 2017. The search included the following databases: PubMed MEDLINE, Embase, Cumulative Index to Nursing and Allied Health Literature, PsycINFO (EBSCO), and IEEE Xplore. Two reviewers independently screened titles and abstracts and assessed full-text articles. Original research articles that evaluated the feasibility, usability, or acceptability of using Google Glass in surgical settings were included. This review was completed following the Preferred Reporting Results of Systematic Reviews and Meta-Analyses guidelines. RESULTS: Of the 520 records obtained, 31 met all predefined criteria and were included in this review. Google Glass was used in various surgical specialties. Most studies were in the United States (23/31, 74%) and all were conducted in hospital settings: 29 in adult hospitals (29/31, 94%) and two in children's hospitals (2/31, 7%). Sample sizes of participants who wore Google Glass ranged from 1 to 40. Of the 31 studies, 25 (81%) were conducted under real-time conditions or actual clinical care settings, whereas the other six (19%) were conducted under simulated environment. Twenty-six studies were pilot or feasibility studies (84%), three were case studies (10%), and two were randomized controlled trials (6%). The majority of studies examined the potential use of Google Glass as an intraoperative intervention (27/31, 87%), whereas others observed its potential use in preoperative (4/31, 13%) and postoperative settings (5/31, 16%). Google Glass was utilized as a videography and photography device (21/31, 68%), a vital sign monitor (6/31, 19%), a surgical navigation display (5/31, 16%), and as a videoconferencing tool to communicate with remote surgeons intraoperatively (5/31, 16%). Most studies reported moderate or high acceptability of using Google Glass in surgical settings. The main reported limitations of using Google Glass utilization were short battery life (8/31, 26%) and difficulty with hands-free features (5/31, 16%). CONCLUSIONS: There are promising feasibility and usability data of using Google Glass in surgical settings with particular benefits for surgical education and training. Despite existing technical limitations, Google Glass was generally well received and several studies in surgical settings acknowledged its potential for training, consultation, patient monitoring, and audiovisual recording.
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Familial amyloid polyneuropathy (FAP) is a rare inherited autosomal dominant form of systemic amyloidosis, which classically presents with severe motor, sensory, and autonomic dysfunction. Cutaneous involvement does not become clinically apparent until late stage symptomatic disease and is rarely reported in modern literature. Here, the authors review the clinical and histologic cutaneous findings of FAP previously described in the literature and report on 3 patients with unique genetic mutations (Thr60Ala and Gly6Ser; Trp41Leu; Glu89Gln) for which cutaneous involvement has not previously been described. Histologically, our patients showed variable amyloid deposition in the subcutaneous adipose tissue, papillary dermis, and dermal blood vessel walls. A review of the literature suggests cutaneous transthyretin deposition is an underrecognized feature of FAP that occurs early on in disease, even before neural involvement and related symptoms as seen in one of our patients. As such, a cutaneous punch biopsy can serve as quick, easy, and relatively noninvasive diagnostic tool in suspected cases.
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Neuropatías Amiloides Familiares/patología , Piel/patología , Anciano , Neuropatías Amiloides Familiares/genética , Biopsia , Análisis Mutacional de ADN , Progresión de la Enfermedad , Diagnóstico Precoz , Femenino , Marcadores Genéticos , Predisposición Genética a la Enfermedad , Humanos , Inmunohistoquímica , Masculino , Persona de Mediana Edad , Mutación , Fenotipo , Prealbúmina/análisis , Prealbúmina/genética , Valor Predictivo de las Pruebas , Pronóstico , Piel/químicaRESUMEN
Genome-wide association studies (GWAS) have uncovered >65 common variants associated with type 2 diabetes (T2D); however, their relevance for drug development is not yet clear. Of note, the first two T2D-associated loci (PPARG and KCNJ11/ABCC8) encode known targets of antidiabetes medications. We therefore tested whether other genes/pathways targeted by antidiabetes drugs are associated with T2D. We compiled a list of 102 genes in pathways targeted by marketed antidiabetic medications and applied Gene Set Enrichment Analysis (MAGENTA [Meta-Analysis Gene-set Enrichment of variaNT Associations]) to this gene set, using available GWAS meta-analyses for T2D and seven quantitative glycemic traits. We detected a strong enrichment of drug target genes associated with T2D (P = 2 × 10(-5); 14 potential new associations), primarily driven by insulin and thiazolidinedione (TZD) targets, which was replicated in an independent meta-analysis (Metabochip). The glycemic traits yielded no enrichment. The T2D enrichment signal was largely due to multiple genes of modest effects (P = 4 × 10(-4), after removing known loci), highlighting new associations for follow-up (ACSL1, NFKB1, SLC2A2, incretin targets). Furthermore, we found that TZD targets were enriched for LDL cholesterol associations, illustrating the utility of this approach in identifying potential side effects. These results highlight the potential biomedical relevance of genes revealed by GWAS and may provide new avenues for tailored therapy and T2D treatment design.
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Diabetes Mellitus Tipo 2/tratamiento farmacológico , Diabetes Mellitus Tipo 2/genética , Redes Reguladoras de Genes/efectos de los fármacos , Hipoglucemiantes/uso terapéutico , Polimorfismo de Nucleótido Simple , Bases de Datos Genéticas , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Hipoglucemiantes/farmacologíaRESUMEN
OBJECTIVE: Little is known about glycemic control in type 2 diabetes patients treated with insulin in the high-risk period between hospital discharge and follow-up. We sought to assess the impact of remote glucose monitoring on postdischarge glycemic control and insulin titration. METHODS: We randomly assigned 28 hospitalized type 2 diabetes patients who were discharged home on insulin therapy to routine specialty care (RSC) or RSC with daily remote glucose monitoring (RGM). We compared the primary outcome of mean blood glucose and exploratory outcomes of hypoglycemia/hyperglycemia rates, change in hemoglobin A1c and glycated albumin, and insulin titration frequency between groups. RESULTS: Mean blood glucose was not significantly different between the treatment arms (144 ± 34 mg/dL in the RSC group and 172 ± 41 mg/dL in the RGM group; not significant), nor were there significant differences in any of the other measures of glycemia during the month after discharge. Hypoglycemia (glucometer reading <60 mg/dL) was common, occurring in 46% of subjects, with no difference between groups. In as-treated analysis, insulin dose adjustments (29% with an increase and 43% with decrease in insulin dose) occurred more frequently in the patients who used RGM (average of 2.8 vs. 1.2 dose adjustments; P = .03). CONCLUSION: In this pilot trial in insulin-treated type 2 diabetes, RGM did not affect glycemic control after hospital discharge; however, the high rate of hypoglycemia in the postdischarge transition period and the higher frequency of insulin titration in patients who used RGM suggest a safety role for such monitoring in the transition from hospital to home.
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Glucemia/análisis , Diabetes Mellitus Tipo 2/tratamiento farmacológico , Hipoglucemiantes/uso terapéutico , Insulina/uso terapéutico , Adulto , Anciano , Automonitorización de la Glucosa Sanguínea , Diabetes Mellitus Tipo 2/sangre , Femenino , Humanos , Masculino , Persona de Mediana Edad , Proyectos PilotoRESUMEN
BACKGROUND: Sphingolipids are increasingly recognized to play a role in insulin resistance and diabetes. Recently we reported significant elevations of 1-deoxysphingolipids (1-deoxySL) - an atypical class of sphingolipids in patients with metabolic syndrome (MetS) and diabetes type 2 (T2DM). It is unknown whether 1-deoxySL in patients with diabetes type 1 (T1DM) are similarly elevated. FINDINGS: We analyzed the long chain base profile by LC-MS after hydrolyzing the N-acyl and O-linked headgroups in plasma from individuals with T1DM (N = 27), T2DM (N = 30) and healthy controls (N = 23). 1-deoxySLs were significantly higher in the groups with T2DM but not different between T1DM and controls. In contrast to patients with T2DM, 1-deoxSL levels are not elevated in T1DM. CONCLUSIONS: Our study indicates that the 1-deoxySL formation is not per-se caused by hyperglycemia but rather specifically associated with metabolic changes in T2DM, such as elevated triglyceride levels.
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Diabetes Mellitus Tipo 1/sangre , Diabetes Mellitus Tipo 2/sangre , Esfingosina/análogos & derivados , Adulto , Anciano , Estudios de Casos y Controles , Femenino , Humanos , Lípidos , Masculino , Persona de Mediana Edad , Esfingolípidos/sangre , Esfingosina/sangreRESUMEN
OBJECTIVE To determine the average fasting, postprandial, and bedtime self-monitored blood glucose (SMBG) concentrations associated with specified HbA1c levels using data from the A1c-Derived Average Glucose (ADAG) study. RESEARCH DESIGN AND METHODS The ADAG study was a multicenter observational study that used continuous glucose monitoring and SMBG testing to determine the relationship between mean average glucose and HbA1c. We used the SMBG data from 470 of the ADAG study participants (237 with type 1 diabetes and 147 with type 2 diabetes) to determine the average fasting, premeal, 90-min postmeal, and bedtime blood glucose (BG) for predefined target HbA1c groups between 5.5 and 8.5% (37-69 mmol/mol). t Tests were used to compare mean BG values between type 1 and type 2 diabetes groups. RESULTS The average fasting BG needed to achieve predefined HbA1c target levels of 5.5-6.49% (37-47 mmol/mol), 6.5-6.99% (48-52 mmol/mol), 7.0-7.49% (52-58 mmol/mol), 7.5-7.99% (58-64 mmol/mol), and 8.0-8.5% (64-69 mmol/mol) were 122 mg/dL with 95% CI 117-127, 142 mg/dL (135-150), 152 mg/dL (143-162), 167 mg/dL (157-177), and 178 mg/dL (164-192), respectively. Postmeal BG to achieve the HbA1c level of 6.5-6.99% (48-52 mmol/mol) and 7.0-7.49% (52-58 mmol/mol) were 139 mg/dL (134-144) and 152 mg/dL (147-157), respectively. Bedtime BG was 153 mg/dL (145-161) and 177 mg/dL (166-188), respectively. CONCLUSIONS We have determined the average BG at premeal, postmeal, and bedtime to achieve a variety of HbA1c targets. These results, based on empirical data, will help patients and providers set realistic day-to-day SMBG targets to achieve individualized HbA1c goals.
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Glucemia/análisis , Diabetes Mellitus Tipo 1/sangre , Diabetes Mellitus Tipo 2/sangre , Diabetes Mellitus Tipo 2/fisiopatología , Hemoglobina Glucada/análisis , Adolescente , Adulto , Anciano , Automonitorización de la Glucosa Sanguínea , Investigación Empírica , Ayuno , Femenino , Humanos , Masculino , Persona de Mediana Edad , Periodo Posprandial , Adulto JovenRESUMEN
OBJECTIVE: To assess the effect of hospital admission on glycemic control in patients with diabetes up to 1 year after discharge. METHODS: We retrospectively studied 826 adults with diabetes admitted to a tertiary care medical center and with available hemoglobin A1c (A1C) values for 6 months before admission and 1 year after discharge. We compared them with 826 nonhospitalized adults with diabetes matched for age, sex, race, comorbidity, and baseline A1C level. We determined the change in A1C value relative to hospitalization and baseline A1C level by using multivariate random effects models for repeated measures. Logistic regression analysis was performed to determine predictors of achieving recommended A1C levels at 1 year. RESULTS: Patients with baseline A1C levels ≥9% had an adjusted rate of change in A1C value of -0.10% per month (95% confidence interval [CI], -0.18 to -0.022; P=.012) during the course of 1 year, without significant differences between hospitalized and nonhospitalized patients in the mean rate of change. Hospitalized patients, however, were less likely to achieve an A1C goal of ≤7% at 1 year (odds ratio, 0.68; 95% CI, 0.55 to 0.86; P<.001) or an A1C of <8% at 1 year (odds ratio, 0.62; 95% CI, 0.48 to 0.81; P<.001) in comparison with the nonhospitalized patients. CONCLUSION: Despite an overall trend toward improved glycemia over time, hospitalized patients with uncontrolled diabetes were less likely to achieve glycemic targets at 1 year in comparison with matched nonhospitalized patients. These results suggest a missed opportunity to improve long-term glycemic control in hospitalized patients with diabetes.