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1.
Osteoporos Int ; 34(6): 1119-1125, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-37022466

RESUMEN

Our imminent model was less sensitive but more selective than FRAX® in the choice of treatment to prevent imminent fractures. This new model decreased NNT by 30%, which could reduce the treatment costs. In the Belgian FRISBEE cohort, the effect of recency further decreased the selectivity of FRAX®. PURPOSE: We analyzed the selection for treatment of patients at high risk of fracture by the Belgian FRISBEE imminent model and the FRAX® tool. METHODS: We identified in the FRISBEE cohort subjects who sustained an incident MOF (mean age 76.5 ± 6.8 years). We calculated their estimated 10-year risk of fracture using FRAX® before and after adjustment for recency and the 2-year probability of fracture using the FRISBEE model. RESULTS: After 6.8 years of follow-up, we validated 480 incident and 54 imminent MOFs. Of the subjects who had an imminent fracture, 94.0% had a fracture risk estimated above 20% by the FRAX® before correction for recency and 98.1% after adjustment, with a specificity of 20.2% and 5.9%, respectively. The sensitivity and specificity of the FRISBEE model at 2 years were 72.2% and 55.4%, respectively, for a threshold of 10%. For these thresholds, 47.3% of the patients were identified at high risk in both models before the correction, and 17.2% of them had an imminent MOF. The adjustment for recency did not change this selection. Before the correction, 34.2% of patients were selected for treatment by FRAX® only, and 18.8% would have had an imminent MOF. This percentage increased to 47% after the adjustment for recency, but only 6% of those would suffer a MOF within 2 years. CONCLUSION: In our Belgian FRISBEE cohort, the imminent model was less sensitive but more selective in the selection of subjects in whom an imminent fracture should be prevented, resulting in a lower NNT. The correction for recency in this elderly population further decreased the selectivity of FRAX®. These data should be validated in additional cohorts before using them in everyday practice.


Asunto(s)
Fracturas de Cadera , Fracturas Osteoporóticas , Humanos , Anciano , Anciano de 80 o más Años , Fracturas Osteoporóticas/epidemiología , Fracturas Osteoporóticas/etiología , Fracturas Osteoporóticas/prevención & control , Selección de Paciente , Densidad Ósea , Factores de Riesgo , Medición de Riesgo/métodos , Bélgica/epidemiología , Fracturas de Cadera/epidemiología , Fracturas de Cadera/etiología , Fracturas de Cadera/prevención & control
2.
Rev Neurol (Paris) ; 179(10): 1128-1133, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37735016

RESUMEN

Two scales have been developed and validated in English to evaluate the impact of tremor on daily life, namely Quality of life in Essential Tremor Questionnaire (QUEST) and Essential Tremor Embarrassment Assessment (ETEA). The psychometric properties of the French version of these two scales were assessed for 117 patients with head tremor. Both scales showed excellent acceptability, very good internal consistency (Cronbach's alpha coefficient>0.8) and reproducibility (Lin concordance coefficient>0.8), satisfactory external validity and satisfactory sensitivity to change. In conclusion, the French versions of QUEST and ETEA are comprehensive, valid and reliable instruments for assessing patients with head tremor.


Asunto(s)
Temblor Esencial , Calidad de Vida , Humanos , Temblor Esencial/diagnóstico , Desconcierto , Temblor/diagnóstico , Temblor/etiología , Reproducibilidad de los Resultados , Encuestas y Cuestionarios , Psicometría
3.
Osteoporos Int ; 32(6): 1093-1101, 2021 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-33411010

RESUMEN

Multiple factors increase the risk of an imminent fracture, including a recent fracture, older age, osteoporosis, comorbidities, and the fracture site. These findings could be a first step in the development of a model to predict an imminent fracture and select patients most at need of immediate treatment. INTRODUCTION: The risk of a recurrent fragility fracture is maximal during the first 2 years following an incident fracture. In this prospective cohort study, we looked at the incidence of recurrent fractures within 2 years after a first incident fracture and we assessed independent clinical risk factors (CRFs) increasing this imminent fracture risk. METHODS: A total of 3560 postmenopausal women recruited from 2007 to 2013 were surveyed yearly for the occurrence of fragility fractures. We identified patients who sustained a fracture during the first 2 years following a first incident fragility fracture. We quantified the risk of a new fracture and assessed independent CRFs, associated with an imminent fracture at various sites. RESULTS: A recent fracture was a significant CRF for an imminent fracture (OR (95% CI): 3.7 (2.4-5.7) [p < 0.0001]). The incidence of an imminent fracture was higher in subjects above 80 years (p < 0.001). Other CRFs highly predictive in a multivariate analysis were osteoporosis diagnosis (p < 0.01), a central fracture as the index fracture (p < 0.01), and the presence of comorbidities (p < 0.05), with likelihood ratios of 1.9, 1.9, and 2.2, respectively. An imminent fracture was better predicted by a central fracture (p < 0.01) than by a major osteoporotic fracture. The hazard ratio was the highest for a central fracture. CONCLUSION: In patients with a recent fracture, older age, osteoporosis, comorbidities, and fracture site were associated with an imminent fracture risk. These findings could be a first step in the development of a model to predict an imminent fracture and select patients most at need of immediate and most appropriate treatment.


Asunto(s)
Osteoporosis , Fracturas Osteoporóticas , Anciano , Femenino , Humanos , Incidencia , Fracturas Osteoporóticas/epidemiología , Fracturas Osteoporóticas/etiología , Estudios Prospectivos , Factores de Riesgo
4.
Osteoporos Int ; 31(7): 1377-1382, 2020 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-32128600

RESUMEN

Despite the availability of efficient drugs to prevent osteoporotic fractures, only a minority of women receives osteoporosis therapy after a fracture. The high treatment gap in our cohort consisted of unselected volunteer patients highlights the urgent need of additional education, especially for the medical profession, regarding the risk-benefit balance of treatment. INTRODUCTION: Despite the availability of efficient drugs to prevent osteoporotic fractures, only a minority of women receives osteoporosis therapy after a fracture, with a treatment gap around 80%. This can have dramatic consequences for patients and the healthcare systems. METHODS: In this study based on longitudinal data from the FRISBEE (Fracture RIsk Brussels Epidemiological Enquiry) cohort of 3560 volunteer women aged 60 to 85 years, we evaluated the 1-year treatment gap after a first major incident fragility fracture. RESULTS: There were 386 first validated fragility fractures, 285 major osteoporotic fractures (MOF) and 101 "other major" fractures. The rate of untreated patients was 85.0% (82.8% for MOF versus 91.0 % for "other major" fracture sites) (p = 0.04), with a lower rate for spine (70.5%) and hip (72.5%) versus shoulder (91.6%) and wrist (94.1%) (p < 0.0001). More specifically, the treatment gap for patients with osteoporosis, defined by a T-score < - 2.5 SD was 74.6% versus 76.5% for patients with osteoporosis defined by the presence of hip, shoulder, or spine fractures, independently of DXA results. When considering age groups, the rate of untreated women was 87.9% for women 60-70 years old, 88.2% between 70 and 80 years and 77.8% above 80 years (p = 0.03), with a greater difference between women who were younger or older than 80 years at inclusion: 88.1% versus 77.8% (p = 0.009). A diagnosis of osteoporosis (p = 0.01) and age (p = 0.03) were the only clinical risk factors (CRFs) significantly associated with treatment initiation. CONCLUSIONS: This study highlights the urgent need of additional education, especially for the medical profession, regarding the risk-benefit balance of treatment.


Asunto(s)
Osteoporosis , Fracturas Osteoporóticas , Anciano , Anciano de 80 o más Años , Densidad Ósea , Femenino , Humanos , Persona de Mediana Edad , Fracturas Osteoporóticas/epidemiología , Fracturas Osteoporóticas/prevención & control , Estudios Prospectivos , Voluntarios
5.
Phys Chem Chem Phys ; 22(22): 12745-12756, 2020 Jun 14.
Artículo en Inglés | MEDLINE | ID: mdl-32463039

RESUMEN

After mixing HZSM-5 single crystals and solid t-stilbene, micro Raman mapping and micro fluorescence emission imaging provide evidence of the adsorption, spontaneous ionization and diffusion of the guest into the pores of zeolite. The experiments provide evidence of both radical cation and subsequent charge transfer complexes (CTC). Using a set of excitation wavelengths, Raman spectra of different charge separated states (CSS) were identified by taking advantage of the resonance effect; the correct assignment of the species stabilized in the single crystal is confirmed by analysis of the reference CSS stabilized in powder samples. This assignment is also supported by the correlation of fluorescence emission images obtained for single crystals at different excitation wavelengths and the fluorescence excitation-emission matrix (EEM) plots obtained for the powder reference samples. Thanks to complementary fluorescence and Raman imaging techniques, the spatial distribution of the CSS was found to be mainly located at the tips and in the intergrowth after long times of contact which are correlated with high loading rates. Unusual Al zoning at the crystal extremities and higher polarity in the sinusoidal pores might be put forward to explain these features.

6.
Eur J Neurol ; 26(6): 943-e65, 2019 06.
Artículo en Inglés | MEDLINE | ID: mdl-30168896

RESUMEN

BACKGROUND AND PURPOSE: In patients with cervical dystonia, abobotulinumtoxinA solution for injection (ASI) has been shown to be similarly effective to freeze-dried abobotulinumtoxinA in reducing Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) total scores. In this secondary analysis, quality of life data as evaluated with the Cervical Dystonia Impact Profile (CDIP-58) are presented. METHODS: This was a double-blind, randomized, active and placebo-controlled study followed by an open-label extension (NCT01261611). In the double-blind phase, patients were randomized (3:3:1) to one cycle of ASI 500 U (n = 156), abobotulinumtoxinA 500 U (n = 159) or placebo (n = 54). Following the double-blind phase, all patients received open-label ASI for up to four cycles. RESULTS: The CDIP-58 total scores were significantly improved at week 4 of the double-blind phase in both the ASI 500 U and abobotulinumtoxinA 500 U groups versus placebo [least squares mean change from baseline of -9.5 (-11.51, -7.45) and -11.2 (-13.2, -9.26) vs. -0.9 (-4.04, 2.14), respectively; both P < 0.0001 vs. placebo]. All CDIP-58 domains contributed to this improvement and benefits were maintained across open-label treatment. Positive correlations were observed between CDIP-58 total score and all three TWSTRS domains (R = 0.42-0.62) and for all CDIP-58 subscales with the TWSTRS total score and domains (R = 0.23-0.60). CONCLUSIONS: Repeat ASI injections are similarly effective to abobotulinumtoxinA in improving patient-reported outcomes of health-related quality of life. Positive correlations were found between TWSTRS total and domain scores and CDIP-58 total and domain scores.


Asunto(s)
Toxinas Botulínicas Tipo A/uso terapéutico , Fármacos Neuromusculares/uso terapéutico , Calidad de Vida , Tortícolis/tratamiento farmacológico , Adulto , Método Doble Ciego , Femenino , Humanos , Inyecciones Intramusculares , Masculino , Persona de Mediana Edad , Resultado del Tratamiento
7.
Support Care Cancer ; 27(4): 1163-1170, 2019 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-30610431

RESUMEN

BACKGROUND: The relationship between cancer and thrombosis has been studied for years, but reliable guidelines for thromboprophylaxis in that situation are still unclear. METHODS: We retrospectively reviewed the files of 3159 consecutive patients with newly diagnosed solid tumors at Jules Bordet Institute from January 2008 to December 2011. Among them, 99 developed a symptomatic thromboembolic episode and were matched with 2 controls (nested case control). The aim was to identify risk factors of thromboembolic events and to validate in our setting the Khorana score. RESULTS: In the cohort study, nodal status ≥ 2, presence of metastases, and primary tumor site were found to be the most significant predictive factors of a thromboembolic event (n = 99; 3.1%) in the multivariate analysis. In the nested study (n = 265), hemoglobin < 13 g/dL or treatment with a red cell growth factor, CRP ≥ 31.6 mg/L, creatinine level > 0.96 mg/dL, chronic inflammatory disease, and personal or familial history of thromboembolic events were found to be the most significant predictive factors of a thromboembolic event in the multivariate analysis. In our population, the sensitivity, specificity, positive predictive value, and negative predictive value of the Khorana score were respectively 29%, 93%, 15%, and 96%. CONCLUSION: We confirm the value of the risk factors identified in the literature with the additional presence of nodal involvement, elevated CRP, and creatinine levels, which may be helpful for patient risk stratification and should be considered in future clinical trials. Our results also suggest that the Khorana score might help to identify patients who can safely be spared of thromboprophylaxis.


Asunto(s)
Neoplasias/complicaciones , Neoplasias/epidemiología , Trombosis/epidemiología , Trombosis/etiología , Adulto , Anciano , Anciano de 80 o más Años , Anticoagulantes/uso terapéutico , Estudios de Casos y Controles , Quimioprevención/métodos , Estudios de Cohortes , Femenino , Humanos , Masculino , Persona de Mediana Edad , Neoplasias/tratamiento farmacológico , Neoplasias/patología , Estudios Retrospectivos , Factores de Riesgo , Sensibilidad y Especificidad , Trombosis/prevención & control , Tromboembolia Venosa/epidemiología , Tromboembolia Venosa/etiología , Tromboembolia Venosa/prevención & control
8.
Analyst ; 142(18): 3432-3440, 2017 Sep 08.
Artículo en Inglés | MEDLINE | ID: mdl-28828424

RESUMEN

In the current work, accurate quantification over 10 to 108 DNA copies has been successfully achieved for the first time by real-time electrochemical PCR. This has been made possible thanks to the combined use of a fully automated house-built electrochemical qPCR device, optimized for parallel heating and electrochemical monitoring of up to 48 PCR solutions, and the appropriate selection of a DNA intercalating redox probe retaining a strong affinity binding to ds-DNA at the PCR measurement temperature of 72 °C (corresponding to the PCR elongation step). This has also been achieved through the identification of the key parameters governing the onset electrochemical signal decrease and amplitude signal decrease as a function of the PCR cycle for a given DNA intercalating redox probe, thus allowing us to predict the electrochemical PCR kinetic plots from the values of the DNA affinity binding constant determined as a function of temperature. To the best of our knowledge, the analytical performances of the current electrochemical qPCR outperform all of those previously published, in terms of detection limit, dynamic range, reproducibility and melting curve analysis compared to that achieved on a commercialized bench-top fluorescence-based qPCR instrument.


Asunto(s)
ADN/análisis , Técnicas Electroquímicas , Reacción en Cadena en Tiempo Real de la Polimerasa , Sondas de ADN , Oxidación-Reducción , Reproducibilidad de los Resultados
9.
Ann Dermatol Venereol ; 144(3): 208-211, 2017 Mar.
Artículo en Francés | MEDLINE | ID: mdl-27776809

RESUMEN

BACKGROUND: Mastocytosis is characterised by the presence of abnormal quantities of mastocytes in one or more organs. Although it occurs in systemic forms of mastocytosis, isolated skin involvement is the predominant presentation, particularly in children, in the form of more or less extensive though non-systematic lesions. Herein, we report a case of maculopapular cutaneous mastocytosis that is unusual in terms of its metameric topography. PATIENTS AND METHODS: A 16-year-old youth presented with an erythematous maculopapular rash of 18 months' duration and involving pruritic inflammatory episodes strictly localised in segment T8 to the left. The skin biopsy showed a significant increase in the number of dermal mastocytes (CD117+). No KIT mutations were found in the skin lesions nor in the unimpaired skin of the opposite side. Further investigations ruled out systemic mastocytis. DISCUSSION: Herein, we report a case of cutaneous mastocytosis that is unusual in terms of its metameric disposition. There have been only two previous reports of segmental cutaneous mastocytis. The two pathological hypotheses involved precessional dermatitis that renders the skin surface susceptible to homing, and somatic mosaicism (type 1) with local mastocyte proliferation.


Asunto(s)
Mastocitos/patología , Mastocitosis Cutánea/patología , Adolescente , Biopsia , Diagnóstico Diferencial , Humanos , Masculino , Piel/patología
10.
J Virol ; 89(11): 5772-87, 2015 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-25833047

RESUMEN

UNLABELLED: A number of men receiving prolonged suppressive highly active antiretroviral therapy (HAART) still shed human immunodeficiency virus (HIV) in semen. To investigate whether this seminal shedding may be due to poor drug penetration and/or viral production by long-lived cells within male genital tissues, we analyzed semen and reproductive tissues from macaques chronically infected with simian immunodeficiency virus mac251 (SIVmac251) who were treated for 4 months with HAART, which was intensified over the last 7 weeks with an integrase inhibitor. We showed that a subset of treated animals continued shedding SIV in semen despite efficient HAART. This shedding was not associated with low antiretroviral drug concentrations in semen or in testis, epididymis, seminal vesicles, and prostate. HAART had no significant impact on SIV RNA in the urethra, whereas it drastically reduced SIV RNA levels in the prostate and vas deferens and to a lesser extent in the epididymis and seminal vesicle. The only detectable SIV RNA-positive cells within the male genital tract after HAART were urethral macrophages. SIV DNA levels in genital tissues were not decreased by HAART, suggesting the presence throughout the male genital tract of nonproductively infected cells. In conclusion, our results demonstrate that 4 months of HAART induced variable and limited control of viral infection in the male reproductive organs, particularly in the urethra, and suggest that infected long-lived cells in the male genital tract may be involved in persistent seminal shedding during HAART. These results pave the way for further investigations of male genital organ infection in long-term-treated infected individuals. IMPORTANCE: A substantial subset of men receiving prolonged HAART suppressing viral loads in the blood still harbor HIV in semen, and cases of sexual transmission have been reported. To understand the origin of this persistence, we analyzed the semen and male reproductive tissues from SIV-infected macaques treated with HAART. We demonstrated that persistent seminal shedding was not linked to poor drug penetration in semen or semen-producing prostate, seminal vesicle, epididymis, and testis. We revealed that HAART decreased SIV RNA to various extents in all male genital organs, with the exception of the urethra, in which SIV RNA(+) macrophages were observed despite HAART. Importantly, HAART did not impact SIV DNA levels in the male genital organs. These results suggest that infection of male genital organs, and particularly the urethra, could be involved in the release of virus in semen during HAART.


Asunto(s)
Terapia Antirretroviral Altamente Activa , Genitales Masculinos/virología , Semen/virología , Síndrome de Inmunodeficiencia Adquirida del Simio/tratamiento farmacológico , Síndrome de Inmunodeficiencia Adquirida del Simio/virología , Virus de la Inmunodeficiencia de los Simios/aislamiento & purificación , Uretra/virología , Animales , Antirretrovirales/administración & dosificación , Antirretrovirales/farmacocinética , Macaca , Masculino , Esparcimiento de Virus
11.
Phys Chem Chem Phys ; 17(16): 10963-77, 2015 Apr 28.
Artículo en Inglés | MEDLINE | ID: mdl-25824115

RESUMEN

In the atmosphere, sea salt aerosols, containing mainly NaCl, can accumulate fatty acids and undergo heterogeneous chemistry with atmospheric nitrogen oxides. The effect of stearic acid (SA) coating on the reactivity of the NaCl(100) surface with NO2 under humidity was studied by atomic force microscopy (AFM), Raman mapping and time-of-flight secondary ion mass spectrometry (ToF-SIMS) to highlight processes occurring on NaCl surfaces. The vapor-deposition of SA on the NaCl surface generates heterogeneous coating with discontinuous monolayer islands. The SA molecules with all-trans conformation stick to the NaCl surface through -CO2H groups and are organized in parallel between them and nearly perpendicularly to the surface. The SA coating does not prevent the NaNO3 particle formation when the sample is exposed to NO2 under low humidity conditions. The initial abilities of the NaCl surface coated with SA to pick up NO2 from the gas phase are correlated with the fraction of bare NaCl area evidencing the spatially heterogeneous reactivity of the surface. The role of H2O in the NO2 uptake and the catalytic conversion of NaCl to NaNO3 is shown. Under humidity (RH = 50%), the H2O uptake by NaNO3 particles on the coated-NaCl surface is significantly more important than that adsorbed under analogous conditions without the presence of NaNO3 particles. This unusual water absorption initiates transitions (i) from solid NaNO3 particles to NaNO3 aqueous solution and (ii) from the SA monolayer with well-ordered all trans alkyl chains to the SA gel with completely disordered conformation. This mixed SA/NaNO3 layer on the particle surface may have significant consequences on the hygroscopic properties and reactivity of the sea salt aerosols in the atmosphere.

12.
Support Care Cancer ; 23(2): 359-64, 2015 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-25084742

RESUMEN

Oral mucositis is a major cause of morbidity in high-dose therapy/autologous stem cell transplantation (HDT/ASCT), where microbial colonization has an important pathological implication. In this study, we evaluated the impact of miconazole mucoadhesive buccal tablet (MBT) on mucositis-related complications. During two consecutive 34-month periods, patients treated with HDT/ASCT in our hematology department received either miconazole MBT (60 patients) or conventional oral amphotericin B suspensions three times a day (44 patients) in order to prevent or decrease chemotherapy-induced mucositis. The use of miconazole MBT is associated with less infectious complications as indicated by shorter antibiotic use (7.8 vs. 12.3 days; p < 0.0001), shorter intravenous antifungal use (1.4 vs. 3.6 days; p = 0.02), and a trend towards less yeast contamination in stool samples. Less patients required any analgesic drugs during hospitalization in the miconazole MBT group (18 vs. 7 %; p = 0.09). Indirect indicators of chemotherapy-induced mucositis (duration of hospitalization, morphine use) were in favor of miconazole MBT in patients with multiple myeloma (MM) but not for those with lymphoma. This study suggests that miconazole MBT provides a valid alternative to oral amphotericin B suspensions in regards to mucositis-related complications. A prospective and randomized study is warranted to establish the definite role of miconazole MBT.


Asunto(s)
Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversos , Trasplante de Células Madre Hematopoyéticas/efectos adversos , Miconazol/uso terapéutico , Mucositis/prevención & control , Estomatitis/prevención & control , Adolescente , Adulto , Anciano , Anfotericina B/uso terapéutico , Antifúngicos/uso terapéutico , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Femenino , Humanos , Quimioterapia de Inducción , Masculino , Persona de Mediana Edad , Mucositis/inducido químicamente , Mucositis/tratamiento farmacológico , Mieloma Múltiple/tratamiento farmacológico , Estudios Prospectivos , Estomatitis/tratamiento farmacológico , Comprimidos , Trasplante Autólogo/efectos adversos , Resultado del Tratamiento , Adulto Joven
13.
Biochim Biophys Acta ; 1833(7): 1665-71, 2013 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-23287019

RESUMEN

Numerous Ca(2+) signaling events have been associated with early development of vertebrate embryo, from fertilization to organogenesis. In Xenopus laevis, Ca(2+) signals are key regulators in the earliest steps of the nervous system development. If neural determination is one of the best-characterized examples of the role of Ca(2+) during embryogenesis, increasing literature supports a determining role of organogenesis and differentiation. In blastula the cells of the presumptive ectoderm (animal caps) are pluripotent and can be induced toward neural fate with an intracellular increase of free Ca(2+) triggered by caffeine. To identify genes that are transcribed early upon Ca(2+) stimuli and involved in neural determination, we have constructed a subtractive cDNA library between neuralized and non-neuralized animal caps. Here we present the expression pattern of three new Ca(2+)-sensitive genes: fus (fused in sarcoma), brd3 (bromodomain containing 3) and wdr5 (WD repeat domain 5) as they all represent potential regulators of the transcriptional machinery. Using in situ hybridization we illustrated the spatial expression pattern of fus, brd3 and wdr5 during early developmental stages of Xenopus embryos. Strikingly, their domains of expression are not restricted to neural territories. They all share a specific expression throughout renal organogenesis which has been found to rely also on Ca(2+) signaling. This therefore highlights the key function of Ca(2+) target genes in specific territories during early development. We propose that Ca(2+) signaling through modulation of fus, brd3 and wdr5 expressions can control the transcription machinery to achieve proper embryogenesis. This article is part of a Special Issue entitled: 12th European Symposium on Calcium.


Asunto(s)
Calcio/metabolismo , Embrión no Mamífero/metabolismo , Regulación del Desarrollo de la Expresión Génica , Riñón/metabolismo , Sistema Nervioso/metabolismo , Proteínas de Xenopus/metabolismo , Xenopus laevis/embriología , Animales , Embrión no Mamífero/citología , Femenino , Gástrula/citología , Gástrula/metabolismo , Biblioteca de Genes , Hibridación in Situ , Riñón/embriología , Sistema Nervioso/embriología , Proteína FUS de Unión a ARN/genética , Proteína FUS de Unión a ARN/metabolismo , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Técnica de Sustracción , Proteínas de Xenopus/genética , Xenopus laevis/genética , Xenopus laevis/metabolismo
14.
Acta Chir Belg ; 114(2): 118-24, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-25073210

RESUMEN

The aim of this study is to compare our surgical results of parathyroidectomies in primary hyperparathyroidism with literature results. From 1985 until 2009, 167 patients were operated for primary hyperparathyroidism by bilateral central neck exploration. The sex ratio (women/men) is 4/1 and the middle age is 57 years old. We record clinical information, laboratory and radiological results of the preoperative period. We count 158 adenomas, 5 parathyroid hyperplasias, two carcinomas and two parathyroid glands reported as normal. The morbidity rate was low (0.6%) and there was no mortality. With a mean follow-up of 6 years, the majority of symptoms and clinical signs improved after surgery, the parathyroid hormone level (PTH) and the calcaemia normalized in all patients except 4/166 (2.41%). Among twenty-four patients who go for a Dual-Energy X-ray Absorptiometry test (DEXA), 16/24 (66.67%) demonstrated a lumbar spine bone mass increase and 15/24 (62.5%) a total hip bone mass increase. There was one recurrence of hyperparathyroidism due to a missed second adenoma in the mediastinum. In conclusion, the parathyroidectomy by bilateral neck exploration under general anesthesia in the treatment of primary hyperparathyroidism is a surgical technique associated with a high recovery rate and a low complications rate. A systematic study of the bone mass before and after parathyroidectomy should allow identification of the factors that are associated with the bone density increase of these patients.


Asunto(s)
Hiperparatiroidismo Primario/cirugía , Paratiroidectomía , Adenoma/complicaciones , Adenoma/patología , Adenoma/cirugía , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Bélgica , Densidad Ósea , Carcinoma/complicaciones , Carcinoma/patología , Carcinoma/cirugía , Femenino , Humanos , Hiperparatiroidismo Primario/etiología , Hiperparatiroidismo Primario/patología , Hiperplasia/complicaciones , Hiperplasia/patología , Hiperplasia/cirugía , Masculino , Persona de Mediana Edad , Neoplasias de las Paratiroides/complicaciones , Neoplasias de las Paratiroides/patología , Neoplasias de las Paratiroides/cirugía , Estudios Retrospectivos , Factores de Tiempo , Resultado del Tratamiento , Adulto Joven
15.
Ann Dermatol Venereol ; 141(10): 611-9, 2014 Oct.
Artículo en Francés | MEDLINE | ID: mdl-25288066

RESUMEN

BACKGROUND: Yellow nail syndrome (YNS) is a combination of specific nail dystrophy (yellowish or green nails, transverse ridging, increased curvature with "a hump" and distal onycholysis), lymphoedema and respiratory tract involvement (mainly bronchial hyper-responsiveness, recurrent pneumonia, bronchiectasis and pleural effusion), with or without sinusitis. This rare condition is most often seen in middle age. We report two pediatric cases. PATIENTS: A 9-year-old boy had 20 yellow nails and lymphedema of the lower and upper left limbs. He was born at 32 weeks of gestation. At birth, he had fetal hydrops with bilateral chylothorax. Since then, he presented bronchopulmonary dysplasia. In his first year of life, he had recurrent nasopharyngitis and serosal otitis. Lymphoscintigraphy was not performed. A 14-year-old boy had 10 yellow toenails and 2 yellow fingernails. He was born at 36 weeks of gestation with fetal hydrops. He had recurrent serosal otitis and asthma attacks. Lymphoscintigraphy showed lymphatic hypoplasia, especially of the left limbs. DISCUSSION: These two children have the classic triad of YNS, including yellow nails, lymphedema and respiratory tract involvement. Thirteen cases have been reported in children from birth to 10 years of age, three of whom were siblings, thus suggesting genetic predisposition. In most cases lymphoscintigraphy showed hypoplasia and/or ectasia of lymphatic vessels. These lymphatic abnormalities may be responsible for nail changes as seen in Turner's syndrome. The prognosis of YNS in adults may be serious because of the pulmonary tract involvement. However, it is not known in children. CONCLUSION: Yellow dystrophic nails in children may be associated with lymphedema and respiratory tract involvement, as in adults, and this condition should therefore be investigated in cases of YNS.


Asunto(s)
Síndrome de la Uña Amarilla/diagnóstico , Adolescente , Displasia Broncopulmonar/diagnóstico , Niño , Humanos , Hidropesía Fetal/diagnóstico , Enfermedades del Prematuro/diagnóstico , Anomalías Linfáticas/diagnóstico , Linfocintigrafia , Masculino , Síndrome de la Uña Amarilla/etiología
16.
Rev Mal Respir ; 41(4): 279-282, 2024 Apr.
Artículo en Francés | MEDLINE | ID: mdl-38461093

RESUMEN

Down syndrome (DS), or trisomy 21, is a genetic disorder caused by the presence of an extra copy of chromosome 21, leading to various characteristic physical features as well as developmental and cognitive delays. Obstructive sleep apnea syndrome (OSAS) is a common disorder in both adult and pediatric patients with DS. Several characteristics of DS may contribute to the development or worsening of OSAS. Numerous murine models of DS exist. A number of studies have explored apneas and the risk of upper airway obstruction in these models, but up until now, only in adulthood.


Asunto(s)
Síndrome de Down , Apnea Obstructiva del Sueño , Adulto , Humanos , Animales , Niño , Ratones , Síndrome de Down/complicaciones , Modelos Animales de Enfermedad , Apnea Obstructiva del Sueño/complicaciones , Apnea Obstructiva del Sueño/epidemiología , Presión de las Vías Aéreas Positiva Contínua
17.
Br J Dermatol ; 169(6): 1233-9, 2013 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-23909384

RESUMEN

BACKGROUND: In most patients pseudoxanthoma elasticum (PXE) manifests with yellowish cutaneous papules and dermal elastorrhexis on skin biopsy. In a small number of cases there are no skin manifestations on clinical examination, and establishing a diagnosis of PXE in such patients is challenging. High-frequency ultrasonography (HFUS) may be of use in predicting skin areas that would yield a biopsy specimen positive for elastorrhexis. OBJECTIVES: To describe characteristics of clinically visible PXE skin using HFUS, and to evaluate its relevance for diagnosis. METHODS: HFUS was performed in a cohort of patients with PXE and in controls at a referral centre. HFUS images of PXE skin were compared with those of other conditions. Five operators blind-scored multiple HFUS images of photoprotected or photoexposed skin from patients with PXE and controls. The diagnostic indices (sensitivity, specificity, likelihood ratios, interobserver agreement) were calculated. RESULTS: The HFUS changes considered as diagnostic for PXE were primarily oval homogeneous hypoechogenic areas in the mid-dermis. The size of these areas closely matched the extent of the histological changes. The sensitivity and specificity of the diagnostic items and interobserver agreement were high, particularly in photoprotected skin. Dermal hypoechogenicity in PXE could be related to high hydration of connective tissue due to the presence of glycosaminoglycans despite elastic fibre mineralization. CONCLUSIONS: HFUS provides suggestive images of PXE skin lesions. HFUS should now be studied to determine whether it is a potentially valuable technique for the noninvasive identification of elastorrhexis in patients with PXE in whom skin involvement is clinically minimal or absent.


Asunto(s)
Seudoxantoma Elástico/diagnóstico por imagen , Piel/patología , Adolescente , Anciano , Estudios de Casos y Controles , Femenino , Humanos , Persona de Mediana Edad , Variaciones Dependientes del Observador , Seudoxantoma Elástico/patología , Sensibilidad y Especificidad , Piel/diagnóstico por imagen , Piel/efectos de la radiación , Luz Solar/efectos adversos , Protectores Solares/farmacología , Ultrasonografía , Adulto Joven
18.
J Anim Physiol Anim Nutr (Berl) ; 97(5): 830-7, 2013 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-22805303

RESUMEN

The aim of this randomized, placebo-controlled and double-blinded trial was to compare the effect of a veterinary therapeutic diet (VTD) rich in omega-3 fatty acids (omega-3) from fish origin to a regular diet used as control (CTR) over a period of 13 weeks in dogs afflicted by naturally occurring osteoarthritis (OA). Thirty privately owned dogs were selected. Dogs had lameness confirmed by an orthopaedic examination, had stifle/hip OA and had locomotor disability based on the peak of the vertically oriented ground reaction force (PVF) measured using a force platform. At Baseline, all owners were asked to determine 2-5 activities of daily living that were the most impaired. Activities were scores (0-4) in accordance with severity using case-specific outcome measures (CSOM). The PVF was also measured. Dogs (15/group) were then randomly assigned to receive either the CTR or the VTD. The CSOM was completed twice weekly. The recording of PVF was repeated at Week 7 and 13. The VTD-fed dogs showed a significantly higher PVF at Week 7 (p < 0.001) and at Week 13 (p < 0.001) when compared to Baseline. From Baseline to Week 13, VTD-fed dogs had a mean (± SD) change in PVF recording of 3.5 ± 6.8% of body weight (%BW) compared with 0.5 ± 6.1%BW (p = 0.211) in CTR-fed dogs. This change in primary outcome was consistent with an effect size of 0.5. Conversely, dogs fed the CTR did not show significant change in PVF measurements. At the end of the study, the CSOM was significantly decreased (p = 0.047) only in VTD fed dogs. In lame OA dogs, a VTD that contains high level of omega-3 from fish origin improved the locomotor disability and the performance in activities of daily living. Such nutritional approach appears interesting for the management of OA.


Asunto(s)
Grasas de la Dieta/farmacología , Enfermedades de los Perros/dietoterapia , Ácidos Grasos Omega-3/farmacología , Osteoartritis/veterinaria , Alimentación Animal/análisis , Fenómenos Fisiológicos Nutricionales de los Animales , Animales , Dieta/veterinaria , Grasas de la Dieta/administración & dosificación , Perros , Relación Dosis-Respuesta a Droga , Ácidos Grasos Omega-3/administración & dosificación , Osteoartritis/dietoterapia
19.
Arch Pediatr ; 30(5): 271-276, 2023 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-37069022

RESUMEN

INTRODUCTION: In 2016, the American Academy of Pediatrics defined the brief resolved unexplained event (BRUE) of high and low risk to characterize fainting in infants under 1 year of age. In the case of low-risk BRUE, it is recommended to perform no further systematic examination, but to monitor the child with a saturometer in the emergency room for 1-4 h. OBJECTIVE: The objective of this study was to identify events corresponding to high- and low-risk BRUE criteria for infants admitted to the Angers University Hospital Center, and to analyze their medical care. METHOD: We conducted an observational, retrospective, descriptive and single-center study of the population of infants younger than 1 year admitted for an unexplained event to the Pediatric Emergency Department of Angers University Hospital Center between 1 January 2017 and 31 December 2019. Two patient databases were crossed to identify patients. RESULTS: Among the 203 patients presenting for fainting, 54 patients met the criteria for BRUE, including 40 high-risk BRUE and 14 low-risk BRUE cases. All complementary examinations performed on low-risk BRUE children were normal. Two of these patients had a recurrence of non-severe fainting several months after the first episode. CONCLUSION: Identification of infants according to the BRUE criteria helps to harmonize practices and to limit the number of complementary examinations or hospitalizations for low-risk BRUE.


Asunto(s)
Hospitalización , Muerte Súbita del Lactante , Lactante , Humanos , Niño , Factores de Riesgo , Estudios Retrospectivos , Servicio de Urgencia en Hospital
20.
Bone Rep ; 18: 101660, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-36824480

RESUMEN

Introduction: Prediction models, especially the FRAX®, are largely used to estimate the fracture risk at ten years, but the current algorithm does not take into account the time elapsed after a fracture. Kanis et al. recently proposed correction factors allowing to adjust the FRAX® score for fracture recency. The objective of this work was to analyze the effect of fracture recency in the FRISBEE cohort. Methods: We identified in the FRISBEE cohort subjects who sustained a validated fracture during the first 5 years following an incident MOF. We calculated their estimated 5-year risk of fracture using FRAX® uncorrected, adjusted for recency and further adjusted for the MOF/hip ratios calibration factors previously derived for the Belgian FRAX®. We compared the fracture risk estimated by FRAX® before and after these corrections to the observed incidence of validated fractures in our cohort. Results: In our ongoing cohort, 376 subjects had a first non-traumatic incident validated MOF after inclusion; 81 had a secondary fracture during the 5 years follow-up period after this index fracture. The FRAX® score significantly under-evaluated the observed incidence of fractures in our cohort by 54.7 % (fracture rate of 9.7 %; 95 % CI, 6.8-12.9 %) if uncorrected (p < 0.001) and by 32.6 % after correction for recency (14.5 %; 95 % CI, 11.1-18.2 %) (p = 0.01). The calibration for MOF/hip ratios improved the prediction (17.5 %; 95 % CI: 13.7-21.4 %) (p = 0.2). After correcting for recency and for calibration, the predicted value was over-evaluated by 22 % (fracture rate of 26.1 %; 95 % CI, 21.6-30.5 %) but this over-evaluation was not significant (p = 0.1). Conclusion: Our data indicate that the correction of the FRAX® score for fracture recency improves fracture prediction. However, correction for calibration and recency tends to overestimate fracture risk in this population of elderly women.

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