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1.
Haemophilia ; 26(2): 257-268, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32141697

RESUMO

INTRODUCTION: Hemostatic prophylaxis (HP) is recommended for patients with bleeding disorders (PWBD) before invasive procedures. However, evidence-based guidelines are needed to determine optimal HP strategies. AIM: To determine outcomes of HP for PWBD undergoing colonoscopy. METHODS: We undertook a retrospective cohort study of HP and outcomes of colonoscopy procedures performed between 9 November 1993 and 13 February 2018 for PWBD who received care in the Mayo Clinic Comprehensive Hemophilia Treatment Center. RESULTS: During the study period, 73 PWBD (58 with milder phenotypes: haemophilia, von Willebrand disease [subtypes 1 and 2; II, VII and XI deficiency]) underwent 141 procedures. Preprocedural HP was given to 61%, and interventions were performed in 47%. Of the 39% without preprocedural HP, postprocedural HP was given for 11%. One major (0.7%; 6 days postprocedure despite HP) and 10 minor (7%) bleeding complications occurred, which tended to be in patients with severe disease and/or after excision of larger polyps. There was no significant difference in the rate of bleeding complications with or without preprocedural HP (8.1% vs 5.5%, respectively; P = .74, Fisher's exact test). CONCLUSION: The low bleeding rates in our cohort suggest that preprocedure HP may be withheld for patients with mild bleeding disorders who undergo colonoscopy with a low likelihood of requiring an intervention or who require only low-risk intervention. This strategy may be best used in experienced centres, provided optimal local hemostasis measures are undertaken and postprocedural HP is rapidly available if high-risk intervention is required. Further studies are needed to determine optimal evidence-based HP strategies for PWBD undergoing colonoscopy.


Assuntos
Colonoscopia/métodos , Hemorragia/prevenção & controle , Hemostáticos/uso terapêutico , Adulto , Idoso , Estudos de Coortes , Feminino , Hemostáticos/farmacologia , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Resultado do Tratamento
2.
Healthcare (Basel) ; 11(5)2023 Feb 24.
Artigo em Inglês | MEDLINE | ID: mdl-36900678

RESUMO

Cystinuria is the most common genetic cause of recurrent kidney stones. As the result of a genetic defect in proximal tubular reabsorption of filtered cystine, increased urine levels of the poorly soluble amino acid result in recurrent cystine nephrolithiasis. Recurrent cystine stones not only adversely affect the quality of patients suffering from cystinuria but also may result in chronic kidney disease (CKD) from recurrent renal injury. Thus, the mainstay of medical management revolves around prevention of stones. Recently published consensus statements on guidelines for managing cystinuria were released from both the United States and Europe. The purpose of this review is to summarize guidelines for medical management of patients with cystinuria, to provide new insight into the utility and clinical significance of cystine capacity-an assay for monitoring cystinuria, and to discuss future directions for research on treatment of cystinuria. We discuss future directions, including the potential use of cystine mimetics, gene therapy, V2-receptor blockers, and SGLT2 inhibitors, topics which have not appeared in more recent reviews. It is notable that in the absence of randomized, controlled trials, the recommendations cited here and in the guidelines are based on our best understanding of the disorder's pathophysiology, observational studies, and clinical experience.

3.
J Endocr Soc ; 5(9): bvab119, 2021 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-34337279

RESUMO

CONTEXT: CYP24A1 encodes 24-hydroxylase, which converts 25(OH)D3 and 1,25(OH)2D3 to inactive metabolites. Loss-of-function variants in CYP24A1 are associated with 24-hydroxylase deficiency (24HD), characterized by hypercalcemia, nephrolithiasis, and nephrocalcinosis. We retrospectively reviewed laboratory, imaging, and clinical characteristics of patients with suspected or confirmed 24HD and patients with other vitamin D-mediated hypercalcemia disorders: sarcoidosis, lymphoma, and exogenous vitamin D toxicity (EVT). OBJECTIVE: To identify features that differentiate 24HD from other vitamin D-mediated hypercalcemia disorders. METHODS: Patients seen at the Mayo Clinic (Rochester, MN) from January 1, 2008, to 31 December, 2016, with the following criteria were retrospectively identified: serum calcium ≥9.6 mg/dL, parathyroid hormone <30 pg/mL, and 1,25(OH)2D3 >40 pg/mL. Patients were considered to have 24HD if they had (1) confirmed CYP24A1 gene variant or (2) 25(OH)D3:24,25(OH)2D ratio ≥50. Patients with sarcoidosis, lymphoma, and EVT were also identified. Groups were compared using the Fisher exact test (categorical variables) or the Wilcoxon rank sum test (continuous variables). RESULTS: We identified 9 patients with 24HD and 28 with other vitamin D-mediated disorders. Patients with 24HD were younger at symptom onset (median 14 vs 63 years; P = .001) and had positive family history (88.9% vs 20.8%; P < .001), nephrocalcinosis (88.9% vs 6.3%; P < .001), lower lumbar spine Z-scores (median -0.50 vs 1.20; P = .01), higher peak serum phosphorus (% of peak reference range, median 107 vs 84; P = .01), and higher urinary calcium:creatinine ratios (median 0.24 vs 0.17; P = .047). CONCLUSION: Patients with 24HD had clinical and laboratory findings that differed from other vitamin D-mediated hypercalcemia disorders. 24HD should be suspected in patients with hypercalcemia who present at younger age, have positive family history, and have nephrocalcinosis.

4.
Transl Androl Urol ; 10(4): 1688-1699, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33968657

RESUMO

BACKGROUND: As potent systemic therapies transition earlier in the prostate cancer disease course, molecular biomarkers are needed to guide optimal treatment selection for metastatic hormone-sensitive prostate cancer (mHSPC). The value of whole blood RNA to detect candidate biomarkers in mHSPC remains largely undefined. METHODS: In this cohort study, we used a previously optimised whole blood reverse transcription polymerase chain reaction assay to assess the prognostic utility [measured by seven-month undetectable prostate-specific antigen (PSA) and time to castration-resistance (TTCR)] of eight prostate cancer-associated gene transcripts in 43 mHSPC patients. Transcripts with statistically significant associations (P<0.05) were further investigated in a metastatic castration-resistant prostate cancer (mCRPC) cohort (n=119) receiving contemporary systemic therapy, exploring associations with PSA >50% response (PSA50), progression-free survival (PFS) and overall survival (OS). Clinical outcomes were prospectively collected in a protected digital database. Kaplan-Meier estimates and multivariable Cox proportional-hazards models assessed associations between gene transcripts and clinical outcomes (mHSPC covariates: disease volume, docetaxel use and haemoglobin level; mCRPC covariates: prior exposure to chemotherapy or ARPIs, haemoglobin, performance status and presence of visceral disease). Follow-up was performed monthly during ARPI treatment, three-weekly during taxane chemotherapy, and three-monthly during androgen deprivation therapy (ADT) monotherapy. Serial PSA measurements were performed before each follow-up visit and repeat imaging was at the discretion of the investigator. RESULTS: Detection of circulating Grainyhead-like 2 (GRHL2) transcript was associated with poor outcomes in mHSPC and mCRPC patients. Detectable GRHL2 expression in mHSPC was associated with a lower rate of seven-month undetectable PSA levels (25% vs. 65%, P=0.059), and independently associated with shorter TTCR (HR 7.3, 95% CI: 1.5-36, P=0.01). In the mCRPC cohort, GRHL2 expression predicted significantly lower PSA50 response rates (46% vs. 69%, P=0.01), and was independently associated with shorter PFS (HR 3.1, 95% CI: 1.8-5.2, P<0.001) and OS (HR 2.9, 95% CI: 1.6-5.1, P<0.001). Associations were most apparent in patients receiving ARPIs. CONCLUSIONS: Detectable circulating GRHL2 was a negative prognostic biomarker in our mHSPC and mCRPC cohorts. These data support further investigation of GRHL2 as a candidate prognostic biomarker in metastatic prostate cancer, in addition to expanding efforts to better understand a putative role in therapeutic resistance to AR targeted therapies.

5.
BMJ Open ; 9(7): e029433, 2019 07 31.
Artigo em Inglês | MEDLINE | ID: mdl-31371297

RESUMO

INTRODUCTION: Citation counts of articles have been used to measure scientific outcomes and assess suitability for grant applications. However, citation counts are not without limitations. With the rise of social media, altmetric scores may provide an alternative assessment tool. OBJECTIVES: The aims of the study were to assess the characteristics of highly cited articles in medical professionalism and their altmetric scores. METHODS: The Web of Science was searched for top-cited articles in medical professionalism, and the characteristics of each article were identified. The altmetric database was searched to identify report for each identified article. A model to assess the relationship between the number of citations and each of the key characteristics as well as altmetric scores was developed. RESULTS: No correlations were found between the number of citations and number of years since publication (p=0.192), number of institutes (p=0.081), number of authors (p=0.270), females in authorship (p=0.150) or number of grants (p=0.384). The altmetric scores varied from 0 to 155, total=806, median=5.0, (IQR=20). Twitter (54%) and Mendeley (62%) were the most popular altmetric resources. No correlation was found between the number of citations and the altmetric scores (p=0.661). However, a correlation was found for articles published in 2007 and after (n=17, p=0.023). To further assess these variables, a model was developed using multivariate analysis; did not show significant differences across subgroups. The topics covered were learning and teaching professionalism, curriculum issues, professional and unprofessional behaviour. CONCLUSIONS: Altmetric scores of articles were significantly correlated with citations counts for articles published in 2007 and after. Highly cited articles were produced mainly by the USA, Canada and the UK. The study reflects the emerging role of social media in research dissemination. Future studies should investigate the specific features of highly cited articles and factors reinforcing distribution of research data among scholars and non-scholars.


Assuntos
Bibliometria , Bases de Dados Bibliográficas/estatística & dados numéricos , Profissionalismo , Mídias Sociais/estatística & dados numéricos , Autoria , Educação Médica , Feminino , Humanos , Masculino , Profissionalismo/educação , Fatores Sexuais
6.
BMJ Open ; 8(7): e021233, 2018 07 12.
Artigo em Inglês | MEDLINE | ID: mdl-30002009

RESUMO

BACKGROUND AND OBJECTIVES: Despite increasing number of publications in inflammatory bowel disease (IBD), no bibliometric analysis has been conducted to evaluate the significance of highly cited articles. Our objectives were to identify the top-cited articles in IBD, assessing their characteristics and determining the quality of evidence provided by these articles. DESIGN AND OUTCOME MEASURES: IBD and related terms were used in searching the Web of Science to identify English language articles. The 50 top-cited articles were analysed by year, journal impact factor (JIF), authorship, females in authorship, institute, country and grants received. The level of evidence was determined using the Oxford Centre for Evidence-Based Medicine guidelines. RESULTS: The number of citations varied from 871 to 3555 with a total of 74 638, and a median 1339.50 (IQR=587). No correlations were found between the number of citations and number of years since publication (r=0.042, p=0.771), JIF (r=0.186, p=0.196), number of authors (r=0.061, p=0.674), females in authorship (r=0.064, p=0.661), number of institutes (r=0.076, p=0.602), number of countries (r=0.101, p=0.483) or number of grants (r=-0.015, p=0.915). The first authors were from the USA (n=24), the UK (n=6), Germany (n=5), France (n=5), Belgium (n=3) and Canada (n=3). The levels of evidence were 12 articles at level 1b, 9 articles at level 3a and 15 articles at level 3b and fewer were at other levels. CONCLUSIONS: Research papers represented 66% of articles. The majority of items have reasonably high levels of evidence, which may have contributed to the higher number of citations. The study also shows a gender gap in authorship in this area.


Assuntos
Bibliometria , Pesquisa Biomédica , Medicina Baseada em Evidências , Doenças Inflamatórias Intestinais , Publicações Periódicas como Assunto/estatística & dados numéricos , Universidades/estatística & dados numéricos , Academias e Institutos/estatística & dados numéricos , Autoria , Pesquisa Biomédica/normas , Humanos , Fator de Impacto de Revistas , Fatores Sexuais
7.
Inform Health Soc Care ; 43(3): 219-233, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29461878

RESUMO

The aims of this study were to determine the following: first, are there educationally useful videos of parents of children with autism sharing their experiences? Second, do any of the data related to videos help in identifying useful videos? And third, what do posted comments tell us? YouTube was searched for videos of parents sharing their experiences. The following parameters were collected: title, creator, URL, duration, number of viewers, likes, dislikes, comments, days on YouTube, and country. Based on agreed-upon criteria, videos were divided independently into educationally useful and non-useful categories. A critical thematic analysis of comments was conducted. A total of 180 videos were finally identified, of which 106 (59%) provided useful information, scoring 15.3 ± 0.7 (mean ± SD); 74 (41%) were determined to be not educationally useful, scoring 8.6 ± 2.1. The differences in scores were significant (p < 0.001), but there were no significant differences between the useful and non-useful groups in terms of video parameters. No correlation was found between scores and any of the videos' parameters. In conclusion, there are videos that can be used as educational resources. The videos' parameters did not differentiate between useful and non useful. Useful videos were mostly created by professional societies and by parents. The study reflects the emerging role of YouTube in sharing experiences.


Assuntos
Transtorno Autístico , Internet , Pais/educação , Gravação em Vídeo , Criança , Estudos de Avaliação como Assunto , Feminino , Humanos , Masculino , Relações Pais-Filho
8.
J Clin Toxicol ; 7(3)2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28868209

RESUMO

OBJECTIVE: Accidental or intentional cyanide ingestion is an-ever present danger. Rapidly acting, safe, inexpensive oral cyanide antidotes are needed that can neutralize large gastrointestinal cyanide reservoirs. Since humans cannot be exposed to cyanide experimentally, we studied oral cyanide poisoning in rabbits, testing oral sodium thiosulfate with and without gastric alkalization. SETTING: University research laboratory. SUBJECTS: New Zealand white rabbits. INTERVENTIONS: Seven animal groups studied; Groups 1-5 received high dose oral NaCN (50 mg, >LD100) and were treated immediately with oral (via nasogastric tube): 1) saline, 2) glycine, 3) sodium thiosulfate or 4) sodium thiosulfate and glycine, or 5) after 2 min with intramuscular injection of sodium nitrite and sodium thiosulfate plus oral sodium thiosulfate and glycine. Groups 6-7 received moderate dose oral NaCN (25 mg, LD70) and delayed intramuscular 6) saline or 7) sodium nitrite-sodium thiosulfate. MEASUREMENTS AND MAIN RESULTS: All animals in the high dose NaCN group receiving oral saline or glycine died very rapidly, with a trend towards delayed death in glycine-treated animals; saline versus glycine-treated animals died at 10.3+3.9 and 14.6+5.9 min, respectively (p=0.13). In contrast, all sodium thiosulfate-treated high dose cyanide animals survived (p<0.01), with more rapid recovery in animals receiving both thiosulfate and glycine, compared to thiosulfate alone (p<0.03). Delayed intramuscular treatment alone in the moderate cyanide dose animals increased survival over control animals from 30% to 71%. Delayed treatment in high dose cyanide animals was not as effective as immediate treatment, but did increase survival time and rescued 29% of animals (p<0.01 versus cyanide alone). CONCLUSIONS: Oral sodium thiosulfate with gastric alkalization rescued animals from lethal doses of ingested cyanide. The combination of oral glycine and sodium thiosulfate may have potential for treating high dose acute cyanide ingestion and merits further investigation. The combination of systemic and oral therapy may provide further options.

9.
BMJ Open ; 6(2): e009889, 2016 Feb 08.
Artigo em Inglês | MEDLINE | ID: mdl-26857105

RESUMO

OBJECTIVE: To identify the top-cited articles in gastroenterology and hepatology, and analyse their characteristics. METHODS: Two searches were conducted in the Science Citation Index Expanded database; a search of 69 journals under the category 'Gastroenterology and Hepatology' (list A) and a keyword search of all journals (list B). The search results were analysed and the inter-rater coefficient of agreement between evaluators was measured using Cohen κ. RESULTS: The number of citations varied from 1049 to 2959 in list A and from 1929 to 5500 in list B. In both lists, the majority of articles were research papers. No significant correlations were found between the number of citations and the number of years since publication (R(2)=0.00992, p=0.473 and R(2)=0.00202, p=0.757, respectively). However, the mean number of citations of papers published before the year 2000 was lower than those published after 2000 (36.70 ± 19.31 vs 106.03 ± 39.22). No correlation was found between number of authors and the number of citations (R(2)=0.04352, p=0.130), but strong correlations were found between the number of institutes involved or number of countries and the number of citations (R(2)=0.275, p<0.001 and R(2)=0.16181, p=0.003, respectively). Females were under-represented in authorship (45 vs 254, p=0.004). Only 21 papers (of 54) in list A were supported by grants. No correlation was found between number of grants received and the number of citations (R(2)=0.02573, p=0.247). The inter-rater agreement between evaluators had a Cohen κ coefficient 0.76-0.84. CONCLUSIONS: Top-cited articles were not only published in highly ranked journals specialising in Gastroenterology and Hepatology but also in 14 journals not specialised in this field. The number of citations correlated with the number of institutes and the number of countries involved but not with the number of grants received or the number of authors. Females were under-represented in the authorship.


Assuntos
Bibliometria , Gastroenterologia , Autoria , Humanos , Fator de Impacto de Revistas , Projetos de Pesquisa , Apoio à Pesquisa como Assunto
10.
Urol Ann ; 7(4): 530-3, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26692682

RESUMO

Testicular plasmacytoma, whether occurring as a primary lesion or as a reflection of underlying multiple myeloma (MM), is a rare disease. We report the case of a 38-year-old male with multiply relapsed MM, who was found to have a testicular plasmacytoma. He presented with a gradually enlarging scrotal mass. Following orchidectomy, pathologic examination of the specimen demonstrated a plasmacytoma. In the context of active MM, the specimen was also sent for cytogenetic analysis but this was unhelpful in guiding a chemotherapy regime, which still continues at time of reporting. Although a rare lesion, there remains no definitive treatment protocol for the management of testicular plasmacytoma representing an extramedullary manifestation of MM.

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