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1.
BMC Med Educ ; 20(1): 33, 2020 Feb 03.
Artículo en Inglés | MEDLINE | ID: mdl-32013924

RESUMEN

BACKGROUND: Inter-professional collaboration is acknowledged as essential for quality patient-care. However, little is known about receptiveness to inter-professional feedback in the postgraduate training. This study explores, in light of social identity theory, the perceptions of residents, supervising physicians and allied health care professionals regarding inter-professional feedback in the context of workplace-based assessment. METHODS: For 6 months, residents in Diabetology at the University Hospital of Bern performed formative workplace-based assessments under direct observation of a supervising physician and an allied health care professional. Feedback from both observers was given to the resident after every assessment. Subsequently, focus group discussions were conducted to collect the participants' perceptions of inter- and intra-professional feedback. Transcripts were analyzed qualitatively using a thematic analysis approach. RESULTS: We identified four main themes: (1) Identity and hierarchy; (2) Interdependence of feedback source and feedback content; (3) Impact on collaboration and patient-care; (4) Logistical and organizational requirements. While different social identities are the source of inter-professional hierarchies, they did not impede the receptiveness to feedback. Perceived trustworthiness of the feedback was attributed with more importance than professional affiliations, whereas intra-professional hierarchies between physicians led to the perception of a more summative nature of the feedback and rather impeded receptiveness. According to the participants, inter-professional feedback raised awareness of the working reality of other team members and had a positive impact on communication between the different professional groups. Moreover, participants reported positive response from patients regarding the inter-professional collaboration they experienced. Considerable organizational effort is required to enable the parallel observation of a resident's consultation by a supervising physician and an allied health care professional. CONCLUSIONS: Feedback from allied health care professionals can be a valuable learning resource for residents, given its role outside the sometimes conflicting area of intra-professional hierarchies. Inter-professional feedback in the context of workplace-based assessment carries the potential to strengthen collaboration between the different professional groups.


Asunto(s)
Diabetes Mellitus , Educación de Postgrado en Medicina , Retroalimentación , Relaciones Interprofesionales , Actitud del Personal de Salud , Competencia Clínica , Evaluación Educacional , Grupos Focales , Hospitales Universitarios , Humanos , Internado y Residencia , Grupo de Atención al Paciente , Investigación Cualitativa , Suiza , Lugar de Trabajo
2.
Genet Med ; 20(8): 872-881, 2018 08.
Artículo en Inglés | MEDLINE | ID: mdl-29144511

RESUMEN

PURPOSE: Congenital hypogonadotropic hypogonadism (CHH), a rare genetic disease caused by gonadotropin-releasing hormone deficiency, can also be part of complex syndromes (e.g., CHARGE syndrome). CHD7 mutations were reported in 60% of patients with CHARGE syndrome, and in 6% of CHH patients. However, the definition of CHD7 mutations was variable, and the associated CHARGE signs in CHH were not systematically examined. METHODS: Rare sequencing variants (RSVs) in CHD7 were identified through exome sequencing in 116 CHH probands, and were interpreted according to American College of Medical Genetics and Genomics guidelines. Detailed phenotyping was performed in CHH probands who were positive for CHD7 RSVs, and genotype-phenotype correlations were evaluated. RESULTS: Of the CHH probands, 16% (18/116) were found to harbor heterozygous CHD7 RSVs, and detailed phenotyping was performed in 17 of them. Of CHH patients with pathogenic or likely pathogenic CHD7 variants, 80% (4/5) were found to exhibit multiple CHARGE features, and 3 of these patients were reclassified as having CHARGE syndrome. In contrast, only 8% (1/12) of CHH patients with nonpathogenic CHD7 variants exhibited multiple CHARGE features (P = 0.01). CONCLUSION: Pathogenic or likely pathogenic CHD7 variants rarely cause isolated CHH. Therefore a detailed clinical investigation is indicated to clarify the diagnosis (CHH versus CHARGE) and to optimize clinical management.


Asunto(s)
Síndrome CHARGE/genética , ADN Helicasas/genética , Proteínas de Unión al ADN/genética , Hipogonadismo/genética , Síndrome CHARGE/diagnóstico , ADN Helicasas/metabolismo , Proteínas de Unión al ADN/metabolismo , Familia , Femenino , Estudios de Asociación Genética , Variación Genética/genética , Heterocigoto , Humanos , Masculino , Mutación , Linaje , Fenotipo , Análisis de Secuencia de ADN
3.
Anticancer Res ; 37(6): 3111-3115, 2017 06.
Artículo en Inglés | MEDLINE | ID: mdl-28551652

RESUMEN

We report on the case of a 25-year-old man with pituitary germinoma. The patient had noticed polydipsia, reduced sexual function, and loss of body hair. Laboratory investigations confirmed panhypopituitarism including diabetes insipidus. Magnetic resonance imaging of the brain showed a 14×8.4 mm enhancing lesion of the pituitary stalk and histopathology of the neurosurgical biopsy confirmed pituitary germinoma. The patient was treated with 3 cycles of chemotherapy, consisting of 150 mg/m2 etoposide and 75 mg/m2 cisplatin, with the administration of intrathecal 12.5 mg methotrexate, on day one, alternating every 10 to 11 days with 1 mg/m2 vincristine, 1,000 mg/m2 methotrexate on day 1 and 30 mg/m2 bleomycin on day 2. MRI scans showed lasting complete remission more than a year after completion of chemotherapy. Intracranial germinomas are exquisitely sensitive to radiation. However, due to concerns of side-effects (radiation-associated tumour, relapse outside the radiation field, mental and pituitary hormonal dysfunction), and after discussing both approaches carefully with the patient, the decision was made to treat his pituitary germinoma with chemotherapy alone. Further studies should address the question as to whether a modulated approach, using radiotherapy only as a salvage in patients with relapse, might result in a better overall outcome, given the potentially harmful long-term side-effects of radiotherapy to the brain.


Asunto(s)
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Bleomicina/administración & dosificación , Cisplatino/administración & dosificación , Etopósido/administración & dosificación , Germinoma/tratamiento farmacológico , Metotrexato/administración & dosificación , Neoplasias Hipofisarias/tratamiento farmacológico , Vincristina/administración & dosificación , Adulto , Biomarcadores de Tumor/análisis , Biopsia , Esquema de Medicación , Germinoma/química , Germinoma/diagnóstico por imagen , Germinoma/patología , Humanos , Inmunohistoquímica , Imagen por Resonancia Magnética , Masculino , Neoplasias Hipofisarias/química , Neoplasias Hipofisarias/diagnóstico por imagen , Neoplasias Hipofisarias/patología , Inducción de Remisión , Factores de Tiempo , Resultado del Tratamiento
4.
Nutrients ; 9(2)2017 Feb 21.
Artículo en Inglés | MEDLINE | ID: mdl-28230765

RESUMEN

This paper aims to compare the metabolic effects of glucose-fructose co-ingestion (GLUFRU) with glucose alone (GLU) in exercising individuals with type 1 diabetes mellitus. Fifteen male individuals with type 1 diabetes (HbA1c 7.0% ± 0.6% (53 ± 7 mmol/mol)) underwent a 90 min iso-energetic continuous cycling session at 50% VO2max while ingesting combined glucose-fructose (GLUFRU) or glucose alone (GLU) to maintain stable glycaemia without insulin adjustment. GLUFRU and GLU were labelled with 13C-fructose and 13C-glucose, respectively. Metabolic assessments included measurements of hormones and metabolites, substrate oxidation, and stable isotopes. Exogenous carbohydrate requirements to maintain stable glycaemia were comparable between GLUFRU and GLU (p = 0.46). Fat oxidation was significantly higher (5.2 ± 0.2 vs. 2.6 ± 1.2 mg·kg-1·min-1, p < 0.001) and carbohydrate oxidation lower (18.1 ± 0.8 vs. 24.5 ± 0.8 mg·kg-1·min-1p < 0.001) in GLUFRU compared to GLU, with decreased muscle glycogen oxidation in GLUFRU (10.2 ± 0.9 vs. 17.5 ± 1.0 mg·kg-1·min-1, p < 0.001). Lactate levels were higher (2.2 ± 0.2 vs. 1.8 ± 0.1 mmol/L, p = 0.012) in GLUFRU, with comparable counter-regulatory hormones between GLUFRU and GLU (p > 0.05 for all). Glucose and insulin levels, and total glucose appearance and disappearance were comparable between interventions. Glucose-fructose co-ingestion may have a beneficial impact on fuel metabolism in exercising individuals with type 1 diabetes without insulin adjustment, by increasing fat oxidation whilst sparing glycogen.


Asunto(s)
Glucemia/metabolismo , Diabetes Mellitus Tipo 1/metabolismo , Carbohidratos de la Dieta/administración & dosificación , Ejercicio Físico/fisiología , Fructosa/farmacología , Glucosa/farmacología , Fenómenos Fisiológicos en la Nutrición Deportiva , Adulto , Ciclismo , Dieta , Carbohidratos de la Dieta/sangre , Grasas de la Dieta/metabolismo , Ingestión de Alimentos , Fructosa/administración & dosificación , Fructosa/metabolismo , Glucosa/administración & dosificación , Glucosa/metabolismo , Glucógeno/metabolismo , Hormonas/sangre , Humanos , Insulina/sangre , Ácido Láctico/sangre , Masculino , Músculos/metabolismo , Consumo de Oxígeno , Adulto Joven
5.
Diabetologia ; 59(4): 776-84, 2016 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-26739816

RESUMEN

AIMS/HYPOTHESIS: To investigate exercise-related fuel metabolism in intermittent high-intensity (IHE) and continuous moderate intensity (CONT) exercise in individuals with type 1 diabetes mellitus. METHODS: In a prospective randomised open-label cross-over trial twelve male individuals with well-controlled type 1 diabetes underwent a 90 min iso-energetic cycling session at 50% maximal oxygen consumption ([Formula: see text]), with (IHE) or without (CONT) interspersed 10 s sprints every 10 min without insulin adaptation. Euglycaemia was maintained using oral (13)C-labelled glucose. (13)C Magnetic resonance spectroscopy (MRS) served to quantify hepatocellular and intramyocellular glycogen. Measurements of glucose kinetics (stable isotopes), hormones and metabolites complemented the investigation. RESULTS: Glucose and insulin levels were comparable between interventions. Exogenous glucose requirements during the last 30 min of exercise were significantly lower in IHE (p = 0.02). Hepatic glucose output did not differ significantly between interventions, but glucose disposal was significantly lower in IHE (p < 0.05). There was no significant difference in glycogen consumption. Growth hormone, catecholamine and lactate levels were significantly higher in IHE (p < 0.05). CONCLUSIONS/INTERPRETATION: IHE in individuals with type 1 diabetes without insulin adaptation reduced exogenous glucose requirements compared with CONT. The difference was not related to increased hepatic glucose output, nor to enhanced muscle glycogen utilisation, but to decreased glucose uptake. The lower glucose disposal in IHE implies a shift towards consumption of alternative substrates. These findings indicate a high flexibility of exercise-related fuel metabolism in type 1 diabetes, and point towards a novel and potentially beneficial role of IHE in these individuals. TRIAL REGISTRATION: ClinicalTrials.gov NCT02068638 FUNDING: Swiss National Science Foundation (grant number 320030_149321/) and R&A Scherbarth Foundation (Switzerland).


Asunto(s)
Glucemia/metabolismo , Diabetes Mellitus Tipo 1/sangre , Diabetes Mellitus Tipo 1/fisiopatología , Ejercicio Físico/fisiología , Adulto , Catecolaminas/sangre , Estudios Cruzados , Metabolismo Energético/fisiología , Hormona del Crecimiento/sangre , Humanos , Ácido Láctico/sangre , Masculino , Estudios Prospectivos , Adulto Joven
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