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1.
Eur Stroke J ; 7(2): 180-187, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35647315

RESUMO

Background: COVID-19 is often complicated by thrombo-embolic events including ischemic stroke. The underlying mechanisms of COVID-19-associated ischemic stroke, the incidence and risk factors of silent cerebral ischemia, and the long-term functional outcome in these patients are currently unknown. Patients and methods: CORONavirus and Ischemic Stroke (CORONIS) is a multicentre prospective cohort study investigating the prevalence, risk factors and long-term incidence of (silent) cerebral ischemia, and the long-term functional outcome among patients with COVID-19. We aim to include 200 adult patients hospitalized with COVID-19 without symptomatic ischemic stroke to investigate the prevalence of silent cerebral ischemia compared with 60 (matched) controls with MRI. In addition, we will identify potential risk factors and/or causes of cerebral ischemia in COVID-19 patients with (n = 70) or without symptomatic stroke (n = 200) by means of blood sampling, cardiac workup and brain MRI. We will measure functional outcome and cognitive function after 3 and 12 months with standardized questionnaires in all patients with COVID-19. Finally, the long-term incidence of (new) silent cerebral ischemia in patients with COVID-19 will be assessed with follow up MRI (n = 120). Summary: The CORONIS study is designed to add further insight into the prevalence, long-term incidence and risk factors of cerebral ischemia, and the long-term functional outcome in hospitalized adult patients with COVID-19.

2.
J Clin Endocrinol Metab ; 102(2): 339-344, 2017 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-27901643

RESUMO

CONTEXT: Recurrence of hypercortisolism in patients after bilateral adrenalectomy for Cushing disease is extremely rare. PATIENT: We present a 27-year-old man who previously underwent bilateral adrenalectomy for Cushing disease with complete clinical resolution. Cushingoid features recurred 12 years later, with bilateral testicular enlargement. Hormonal tests confirmed adrenocorticotropic hormone (ACTH)-dependent Cushing disease. Surgical resection of the testicular tumors led to clinical and biochemical remission. DESIGN AND RESULTS: Gene expression analysis of the tumor tissue by quantitative polymerase chain reaction showed high expression of all key steroidogenic enzymes. Adrenocortical-specific genes were 5.1 × 105 (CYP11B1), 1.8 × 102 (CYP11B2), and 6.3 × 104 (MC2R) times higher than nonsteroidogenic fibroblast control. This correlated with urine steroid metabolome profiling showing 2 fivefold increases in the excretion of the metabolites of 11-deoxycortisol, 21-deoxycortisol, and total glucocorticoids. Leydig-specific genes were 4.3 × 101 (LHCGR) and 9.3 × 100 (HSD17B3) times higher than control, and urinary steroid profiling showed twofold increased excretion of the major androgen metabolites androsterone and etiocholanolone. These distinctly increased steroid metabolites were suppressed by dexamethasone but unresponsive to human chorionic gonadotropin stimulation, supporting the role of ACTH, but not luteinizing hormone, in regulating tumor-specific steroid excess. CONCLUSION: We report bilateral testicular tumors occurring in a patient with recurrent Cushing disease 12 years after bilateral adrenalectomy. Using mRNA expression analysis and steroid metabolome profiling, the tumors demonstrated both adrenocortical and gonadal steroidogenic properties, similar to testicular adrenal rest tumors found in patients with congenital adrenal hyperplasia, suggesting the presence of pluripotent cells even in patients without congenital adrenal hyperplasia.


Assuntos
Adrenalectomia , Síndrome de Cushing/cirurgia , Neoplasias Testiculares/complicações , Adulto , Coleta de Amostras Sanguíneas/métodos , Criança , Síndrome de Cushing/etiologia , Perfilação da Expressão Gênica/métodos , Regulação Neoplásica da Expressão Gênica , Hormônios/sangue , Humanos , Imageamento por Ressonância Magnética , Masculino , Metabolômica/métodos , RNA Mensageiro/genética , Recidiva , Esteroides/sangue , Esteroides/urina , Neoplasias Testiculares/diagnóstico por imagem , Neoplasias Testiculares/metabolismo , Neoplasias Testiculares/cirurgia
3.
J Matern Fetal Neonatal Med ; 29(6): 991-7, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25781498

RESUMO

OBJECTIVE: Radiography after fetal or perinatal death has become a routine part of post-mortem diagnostics. However, only a selected subset of these babygrams or fetal post-mortem skeletal surveys (FPSSs) provides useful information. We investigated the indication for a FPSS. METHODS: Inclusion consisted of the routinely made FPSS (2002-2012) in our university hospital in cases of fetal or perinatal death up to 7 days after birth. We categorized the diagnostic value of the FPSS as no, minor, major or pathognomonic. Regression analysis was used to determine the selection criteria for a useful FPSS. RESULTS: Three hundred and thirty-seven FPSS were included. Three hundred and five (91%) FPSS showed no or minor skeletal malformations. Fourteen (4.2%) FPSS had major skeletal malformations. In 18 (5.3%) cases the diagnosis was based on the pathognomonic skeletal malformations on the FPSS. Two cases were false positive after major birth trauma. The presence of multiple skeletal malformations on prenatal ultrasound or at post-mortem external inspection was highly indicative of a diagnostic FPSS (p < 0.001). CONCLUSION: The majority of the babygrams/FPSS has no contribution to the diagnostic process. Multiple skeletal malformations on prenatal ultrasound or post-mortem external inspection are indicative for a diagnostic FPSS, and this should be the main selection criterion.


Assuntos
Autopsia/estatística & dados numéricos , Feto/diagnóstico por imagem , Esqueleto/diagnóstico por imagem , Feminino , Humanos , Recém-Nascido , Masculino , Radiografia , Estudos Retrospectivos
4.
Horm Res Paediatr ; 82(4): 238-44, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25195868

RESUMO

UNLABELLED: Testicular adrenal rest tumours (TART) are one of the most important causes of infertility in adult male patients with congenital adrenal hyperplasia (CAH). These benign tumours are already detected in children, but screening of TART is not routinely performed. OBJECTIVE: To define retrospectively the prevalence of TART in 41 paediatric male CAH patients aged 0-19 years regularly followed by high-frequency (Fcentral 12-MHz) ultrasound techniques. RESULTS: Above the age of 10 years, there was a clear increase in the prevalence of TART: 10-12 years, 28% (2 of 7 patients), 13-14 years, 50% (4/8), and 15-16 years, 75% (3/4). Above the age of 16 years, TART were detected in 100% of the patients (7/7). The tumours were not detectable by palpation. CONCLUSION: TART is already present in childhood with an increasing prevalence after onset of puberty. We recommend regular ultrasound from the onset of puberty in all boys with classic CAH.


Assuntos
Hiperplasia Suprarrenal Congênita/complicações , Tumor de Resto Suprarrenal/epidemiologia , Neoplasias Testiculares/epidemiologia , 17-alfa-Hidroxiprogesterona/metabolismo , Adolescente , Hiperplasia Suprarrenal Congênita/diagnóstico por imagem , Hiperplasia Suprarrenal Congênita/genética , Tumor de Resto Suprarrenal/diagnóstico por imagem , Tumor de Resto Suprarrenal/genética , Androstenodiona/metabolismo , Criança , Estudos Transversais , Hormônios Esteroides Gonadais/metabolismo , Humanos , Masculino , Prevalência , Saliva/metabolismo , Neoplasias Testiculares/diagnóstico por imagem , Neoplasias Testiculares/genética , Ultrassonografia , Adulto Jovem
5.
Med Mycol Case Rep ; 4: 8-11, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24624324

RESUMO

The existing guidelines regarding the management of invasive pulmonary aspergillosis do not recommend screening of the extra-pulmonary sites. Due to the fact that the presence of central nervous system (CNS) aspergillosis will influence treatment decisions regarding which antifungal to use and the aimed target concentrations of azoles in plasma, to be informed about dissemination of the infection to the CNS is absolutely necessary. We demonstrate the need for a structured approach to screening of pediatric patients for CNS aspergillosis.

6.
Int J Radiat Oncol Biol Phys ; 85(2): 315-20, 2013 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-22682807

RESUMO

PURPOSE: Despite conventional radiation therapy, 54 Gy in single doses of 1.8 Gy (54/1.8 Gy) over 6 weeks, most children with diffuse intrinsic pontine glioma (DIPG) will die within 1 year after diagnosis. To reduce patient burden, we investigated the role of hypofractionation radiation therapy given over 3 to 4 weeks. A 1:1 matched-cohort analysis with conventional radiation therapy was performed to assess response and survival. METHODS AND MATERIALS: Twenty-seven children, aged 3 to 14, were treated according to 1 of 2 hypofractionation regimens over 3 to 4 weeks (39/3 Gy, n=16 or 44.8/2.8 Gy, n=11). All patients had symptoms for ≤3 months, ≥2 signs of the neurologic triad (cranial nerve deficit, ataxia, long tract signs), and characteristic features of DIPG on magnetic resonance imaging. Twenty-seven patients fulfilling the same diagnostic criteria and receiving at least 50/1.8 to 2.0 Gy were eligible for the matched-cohort analysis. RESULTS: With hypofractionation radiation therapy, the overall survival at 6, 9, and 12 months was 74%, 44%, and 22%, respectively. Progression-free survival at 3, 6, and 9 months was 77%, 43%, and 12%, respectively. Temporary discontinuation of steroids was observed in 21 of 27 (78%) patients. No significant difference in median overall survival (9.0 vs 9.4 months; P=.84) and time to progression (5.0 vs 7.6 months; P=.24) was observed between hypofractionation vs conventional radiation therapy, respectively. CONCLUSIONS: For patients with newly diagnosed DIPG, a hypofractionation regimen, given over 3 to 4 weeks, offers equal overall survival with less treatment burden compared with a conventional regimen of 6 weeks.


Assuntos
Neoplasias do Tronco Encefálico/radioterapia , Glioma/radioterapia , Ponte , Adolescente , Neoplasias do Tronco Encefálico/mortalidade , Neoplasias do Tronco Encefálico/patologia , Criança , Pré-Escolar , Estudos de Coortes , Fracionamento da Dose de Radiação , Feminino , Glioma/mortalidade , Glioma/patologia , Humanos , Masculino , Análise por Pareamento , Fótons/uso terapêutico , Ponte/patologia , Estatísticas não Paramétricas , Taxa de Sobrevida
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