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1.
Ann Hematol ; 103(6): 1909-1917, 2024 Jun.
Article de Anglais | MEDLINE | ID: mdl-38642304

RÉSUMÉ

Crizanlizumab, a monoclonal antibody against P-selectin, has been shown to reduce vaso-occlusive crises (VOCs) compared to placebo in patients ≥ 16 years with sickle cell disease (SCD). However, there have been rare reports of patients experiencing severe pain and subsequent complications within 24 hours of crizanlizumab infusions. These events are defined as infusion-related reactions (IRRs). Informed by current literature and clinical experience, a group of content experts developed clinical guidelines for the management of IRRs in patients with SCD. We used the RAND/University of California, Los Angeles (UCLA) modified Delphi panel method, a valid, reproducible technique for achieving consensus. We present our recommendations for managing IRRs, which depend on patient characteristics including: prior history of IRRs to other monoclonal antibodies or medications, changes to crizanlizumab infusion rate and patient monitoring, pain severity relative to patient's typical SCD crises, and severe allergic symptoms. These recommendations outline how to evaluate and manage IRRs in patients receiving crizanlizumab. Future research should validate this guidance using clinical data and identify patients at risk for these IRRs.


Sujet(s)
Drépanocytose , Anticorps monoclonaux humanisés , Méthode Delphi , Humains , Anticorps monoclonaux humanisés/usage thérapeutique , Anticorps monoclonaux humanisés/effets indésirables , Drépanocytose/traitement médicamenteux , Perfusions veineuses , Consensus
2.
Front Mol Biosci ; 10: 1282412, 2023.
Article de Anglais | MEDLINE | ID: mdl-38131015

RÉSUMÉ

Type 2 diabetes mellitus (T2DM) can be multifactorial where both genetics and environmental factors play a role. We aimed to investigate the use of polygenic risk scores (PRS) in the prediction of pre-transplant T2DM and post-transplant diabetes mellitus (PTDM) among solid organ transplant (SOT) patients. Using non-genetic risk scores alone; and the combination with PRS, separate logistic regression models were built and compared using receiver operator curves. Patients were assessed pre-transplant and in three post-transplant periods: 0-45, 46-365 and >365 days. A higher PRS was significantly associated with increased odds of pre-transplant T2DM. However, no improvement was observed for pre-transplant T2DM prediction when comparing PRS combined with non-genetic risk scores to using non-genetic risk scores alone. This was also true for predictions of PTDM in all three post-transplant periods. This study demonstrated that polygenic risk was only associated with the risk of T2DM among SOT recipients prior to transplant and not for PTDM. Combining PRS with a clinical model of non-genetic risk scores did not significantly improve the predictive ability, indicating its limited clinical utility in identifying patients at high risk for T2DM before transplantation, suggesting that non-genetic or different genetic factors may contribute to PTDM.

3.
JCO Precis Oncol ; 7: e2200715, 2023 06.
Article de Anglais | MEDLINE | ID: mdl-37285561

RÉSUMÉ

PURPOSE: This review summarizes the published evidence on the clinical impact of using next-generation sequencing (NGS) tests to guide management of patients with cancer in the United States. METHODS: We performed a comprehensive literature review to identify recent English language publications that presented progression-free survival (PFS) and overall survival (OS) of patients with advanced cancer receiving NGS testing. RESULTS: Among 6,475 publications identified, 31 evaluated PFS and OS among subgroups of patients who received NGS-informed cancer management. PFS and OS were significantly longer among patients who were matched to targeted treatment in 11 and 16 publications across tumor types, respectively. CONCLUSION: Our review indicates that NGS-informed treatment can have an impact on survival across tumor types.


Sujet(s)
Tumeurs , Humains , États-Unis , Tumeurs/diagnostic , Tumeurs/génétique , Tumeurs/thérapie , Survie sans progression , Séquençage nucléotidique à haut débit
4.
Mov Disord Clin Pract ; 10(4): 652-657, 2023 Apr.
Article de Anglais | MEDLINE | ID: mdl-37070052

RÉSUMÉ

Background: On-demand treatments can treat OFF episodes in Parkinson's disease, however, there is limited information regarding when to prescribe them. Objective: Develop expert consensus to determine appropriate clinical factors for considering on-demand treatments. Methods: Using a RAND/UCLA modified Delphi panel method, a panel developed consensus on the use of on-demand treatments for OFF episodes. Results: The panel agreed on-demand treatments were appropriate when OFF episodes were associated with greater functional impact and interfered with basic daily activities. The panel also agreed on-demand treatment may be appropriate for patients with morning akinesia and/or delayed ON of first levodopa dose and >1 type of OFF episode (eg, early morning OFF or wearing OFF regardless of frequency). Conclusions: Experts agreed on-demand treatment is appropriate for many patients with OFF episodes. The greater the functional impact of OFF episodes, the more likely experts agreed that on-demand treatment is appropriate to prescribe.

5.
PLoS One ; 17(12): e0279227, 2022.
Article de Anglais | MEDLINE | ID: mdl-36542647

RÉSUMÉ

Expert consensus on the potential benefits of early cancer detection does not exist for most cancer types. We convened 10 practicing oncologists using a RAND/UCLA modified Delphi panel to evaluate which of 20 solid tumors, representing >40 American Joint Committee on Cancer (AJCC)-identified cancer types and 80% of total cancer incidence, would receive potential clinical benefits from early detection. Pre-meeting, experts estimated how long cancers take to progress and rated the current curability and benefit (improvement in curability) of an annual hypothetical multi-cancer screening blood test. Post-meeting, experts rerated all questions. Cancers had varying estimates of the potential benefit of early cancer detection depending on estimates of their curability and progression by stage. Cancers rated as progressing quickly and being curable in earlier stages (stomach, esophagus, lung, urothelial tract, melanoma, ovary, sarcoma, bladder, cervix, breast, colon/rectum, kidney, uterus, anus, head and neck) were estimated to be most likely to benefit from a hypothetical screening blood test. Cancer types rated as progressing quickly but having comparatively lower cure rates in earlier stages (liver/intrahepatic bile duct, gallbladder, pancreas) were estimated to have medium likelihood of benefit from a hypothetical screening blood test. Cancer types rated as progressing more slowly and having higher curability regardless of stage (prostate, thyroid) were estimated to have limited likelihood of benefit from a hypothetical screening blood test. The panel concluded most solid tumors have a likelihood of benefit from early detection. Even among difficult-to-treat cancers (e.g., pancreas, liver/intrahepatic bile duct, gallbladder), early-stage detection was believed to be beneficial. Based on the panel consensus, broad coverage of cancers by screening blood tests would deliver the greatest potential benefits to patients.


Sujet(s)
Mélanome , Tumeurs , Sarcomes , Mâle , Femelle , Humains , Tumeurs/anatomopathologie , Dépistage précoce du cancer , Dépistage de masse , Région mammaire/anatomopathologie
6.
J Health Econ Outcomes Res ; 9(2): 103-114, 2022.
Article de Anglais | MEDLINE | ID: mdl-36348724

RÉSUMÉ

Background: Multiple sclerosis (MS) is a chronic inflammatory autoimmune disease of the central nervous system. Pediatric-onset MS (POMS), defined as onset of MS before 18 years of age, is estimated to account for 2% to 5% of the MS population worldwide. Objectives: To conduct a literature review focused on the healthcare resource utilization and cost as well as quality-of-life (QOL) outcomes among patients with POMS. Methods: We conducted a systematic literature review of English-language studies published after September 2010 in MEDLINE and Embase to describe the global economic healthcare resource utilization and costs and humanistic (QOL) burden in patients with POMS. Results: We found 11 studies that reported on healthcare resource utilization, cost, or insurance coverage and 36 studies that reported on QOL outcomes in patients with POMS. Patients with POMS had higher rates of primary care visits (1.41 [1.29-1.54]), hospital visits (10.74 [8.95-12.90]), and admissions (rate ratio, 4.27 [2.92-6.25];OR, 15.2 [12.0-19.1]) compared with healthy controls. Mean per-patient costs in the United States were $5907 across all settings per year of follow-up between 2002 and 2012; mean costs per hospital stay were $38 543 (in 2015 USD) between 2004 and 2013. Three studies reported psychosocial scores between 71.59 and 79.7, and 8 studies reported physical health scores between 74.62 to 82.75 using the Pediatric Quality of Life Measurement Model (PedsQLTM). Twelve studies used the PedsQL™ Multidimensional Fatigue Scale. Mean scores on the self-reported general fatigue scale ranged from 63.15 to 78.5. Quality-of-life scores were lower than those of healthy controls. Discussion: Our review presents a uniquely broad and recent overview of the global economic and humanistic burden of patients with POMS. Additional research on healthcare resource utilization and cost would provide a more robust understanding of the economic burden in this population. Conclusions: Healthcare resource utilization and costs are high in this population, and patients report reduced QOL and significant fatigue compared with healthy children and adolescents.

7.
Adv Radiat Oncol ; 7(6): 100950, 2022.
Article de Anglais | MEDLINE | ID: mdl-35677193

RÉSUMÉ

Purpose: The incidence, etiology, and association of infections with radiation therapy (RT)-induced lymphopenia in patients with solid tumors is not well elucidated. Methods and Materials: We identified possible, probable, and definite infections caused by bacteria, fungi, and viruses, combining data on medication, microbiology, and diagnoses. Definite infections had either a diagnosis or a positive microbiological isolation. We analyzed the incidence and adjusted incidence-rate ratio of infections in the year after the start of RT among patients who received RT plus chemotherapy and RT monotherapy, by type of infection and according to the degree of RT-induced lymphopenia. Results: A total of 4450 of 6334 (70.3%) patients experienced 11264 infections overall; 1424 (22.5%) patients developed 2104 definite infections in the first year after RT. Infections were more frequent among patients who received RT plus chemotherapy (2590 of 3469; incidence: 16.5 [95% confidence interval {CI}, 16.1-17.0], per 100 patient-years) compared with patients who received RT monotherapy (1860 of 2865; incidence: 12.7 [95% CI, 12.3-13.2]). The incidence of infection was highest in the first 3 months overall (28.2 vs 18.0 in patients who received RT plus chemotherapy compared with those who received RT monotherapy) and for definite infections (4.7 vs 3.8). The proportion of specific bacterial infections were similar among patients who received RT plus chemotherapy versus those who received RT monotherapy. Urinary tract infections were the most frequent (51.2% vs 56.2%), followed by pneumonias (24.1% vs 22.4%). Viral and fungal infections were more frequent among patients who received RT plus chemotherapy, but they were uncommon. In multivariable analyses, patients who received RT plus chemotherapy with a lymphopenia grade of 1-2 or ≥3 versus no lymphopenia at end of RT had an increased risk of bacterial infections 0 to 3 months after RT (incidence rate ratio, 1.45 [95% CI, 1.06-1.97] and 1.71 [95% CI, 1.26-2.34], respectively). Limiting to definite bacterial infections, the incidence rate ratio for lymphopenia grade ≥3 versus no lymphopenia was 2.66 (95% CI, 1.40-5.03). Conclusions: The incidence of bacterial infections 0 to 3 months after RT plus chemotherapy for solid tumors was high, especially among patients with RT-induced lymphopenia grade 1-2 and ≥3.

8.
Transpl Int ; 35: 10352, 2022.
Article de Anglais | MEDLINE | ID: mdl-35449717

RÉSUMÉ

Post-transplant diabetes mellitus (PTDM) is associated with a higher risk of adverse outcomes. We aimed to describe the proportion of patients with diabetes prior to solid organ transplantation (SOT) and post-transplant diabetes mellitus (PTDM) in three time periods (early-likely PTDM: 0-45 days; 46-365 days and >365 days) post-transplant and to estimate possible risk factors associated with PTDM in each time-period. Additionally, we compared the risk of death and causes of death in patients with diabetes prior to transplant, PTDM, and non-diabetes patients. A total of 959 SOT recipients (heart, lung, liver, and kidney) transplanted at University Hospital of Copenhagen between 2010 and 2015 were included. The highest PTDM incidence was observed at 46-365 days after transplant in all SOT recipients. Age and the Charlson Comorbidity Index (CCI Score) in all time periods were the two most important risk factors for PTDM. Compared to non-diabetes patients, SOT recipients with pre-transplant diabetes and PTDM patients had a higher risk of all-cause mortality death (aHR: 1.77, 95% CI: 1.16-2.69 and aHR: 1.89, 95% CI: 1.17-3.06 respectively). Pre-transplant diabetes and PTDM patients had a higher risk of death due to cardiovascular diseases and cancer, respectively, when compared to non-diabetes patients.


Sujet(s)
Diabète , Transplantation d'organe , Danemark/épidémiologie , Diabète/épidémiologie , Diabète/étiologie , Humains , Transplantation d'organe/effets indésirables , Complications postopératoires/épidémiologie , Complications postopératoires/étiologie , Études rétrospectives , Facteurs de risque , Receveurs de transplantation
9.
Med Phys ; 49(1): 461-473, 2022 Jan.
Article de Anglais | MEDLINE | ID: mdl-34783028

RÉSUMÉ

PURPOSE: Organ-at-risk contouring is still a bottleneck in radiotherapy, with many deep learning methods falling short of promised results when evaluated on clinical data. We investigate the accuracy and time-savings resulting from the use of an interactive-machine-learning method for an organ-at-risk contouring task. METHODS: We implement an open-source interactive-machine-learning software application that facilitates corrective-annotation for deep-learning generated contours on X-ray CT images. A trained-physician contoured 933 hearts using our software by delineating the first image, starting model training, and then correcting the model predictions for all subsequent images. These corrections were added into the training data, which was used for continuously training the assisting model. From the 933 hearts, the same physician also contoured the first 10 and last 10 in Eclipse (Varian) to enable comparison in terms of accuracy and duration. RESULTS: We find strong agreement with manual delineations, with a dice score of 0.95. The annotations created using corrective-annotation also take less time to create as more images are annotated, resulting in substantial time savings compared to manual methods. After 923 images had been delineated, hearts took 2 min and 2 s to delineate on average, which includes time to evaluate the initial model prediction and assign the needed corrections, compared to 7 min and 1 s when delineating manually. CONCLUSIONS: Our experiment demonstrates that interactive-machine-learning with corrective-annotation provides a fast and accessible way for non computer-scientists to train deep-learning models to segment their own structures of interest as part of routine clinical workflows.


Sujet(s)
Apprentissage profond , Coeur , Traitement d'image par ordinateur , Apprentissage machine , Tomodensitométrie
10.
Radiother Oncol ; 158: 175-183, 2021 05.
Article de Anglais | MEDLINE | ID: mdl-33662438

RÉSUMÉ

PURPOSE: To describe the kinetics of the peripheral blood components after radiotherapy, to examine radiation exposure vs. End-of-Radiation-Therapy (EoRT) counts and to associate the EoRT lymphocyte count with death and cancer treatment failure. MATERIALS AND METHODS: Cohort study of patients who received curative intent radiotherapy for solid tumor diagnoses from 2009-2016 at Rigshospitalet, Copenhagen and had available 3D radiation exposure data. We illustrated peripheral blood count kinetics within 12 months before and after radiotherapy start and analyzed the impact of the irradiated body volume. We investigated overall survival and cancer treatment failure according to EoRT lymphopenia using Cox regression analyses. RESULTS: We analyzed 4055 patients with both pre-treatment and EoRT platelet counts and 2318 patients who also had neutrophil and lymphocyte counts. Only the lymphocyte decline after radiotherapy start was clinically relevant and remained low one year after radiotherapy. The higher the volume of the body exposed to radiation, the lower the EoRT blood counts. Female gender (p < 0.001), number of fractions (p = 0.010), dose-volume (p < 0.001) and concomitant use of chemotherapy, particularly the platinum compounds (p < 0.001) were independently associated with a lower EoRT lymphocyte count. Patients with head and neck cancer had the lowest EoRT lymphocyte count. Patients with lymphopenia had a higher risk of death in the year after radiotherapy, compared with patients with no lymphopenia. CONCLUSION: Radiation schemes with fewer fractions and radiation techniques allowing reduction of the volume of the body exposed to radiation could be expected to better preserve patients' immune function.


Sujet(s)
Lymphopénie , Antinéoplasiques alcoylants , Études de cohortes , Femelle , Humains , Numération des lymphocytes , Lymphocytes , Lymphopénie/étiologie , Études rétrospectives
11.
Int J Radiat Oncol Biol Phys ; 105(4): 812-823, 2019 11 15.
Article de Anglais | MEDLINE | ID: mdl-31344435

RÉSUMÉ

PURPOSE: Lymphopenia has been associated with poor outcomes in patients with cancer. We sought to describe the lymphocyte kinetics in patients who received radiation therapy; to identify factors associated with the end-of-radiation-therapy (EoRT) lymphocyte count; and to determine the association of radiation therapy-induced lymphopenia with subsequent infection. METHODS AND MATERIALS: Patients with solid malignant tumors treated at the Department of Oncology at Rigshospitalet, University of Copenhagen, Denmark, were included if they had received their first external beam radiation therapy with curative intent from January 2005 to December 2016 and had pretreatment and EoRT lymphocyte counts measured. Factors associated with the EoRT lymphocyte count were identified using regression analyses. The risk of subsequent infection was estimated using Cox proportional hazards regression. RESULTS: We included 3920 patients. More patients had lymphopenia (<1000 cells/µL) at EoRT than at pretreatment (67.1% vs 14.9%; P < .001). Patients who received schemes with higher intensities (equivalent dose in 2-Gy fractions [EQD2] >65 Gy) in shorter time (<25 days) had a higher predicted EoRT lymphocyte count than patients who received schemes delivering EQD2 of 50 to 65 Gy in 25 to 45 days (1439 cells/µL, 95% confidence interval [1293-1585] vs 784 [754-814]). Radiation to multiple sites and concomitant chemotherapy use, particularly platinum compounds versus none, were associated with a lower EoRT lymphocyte count (698 [655-742] vs 852 [833-870]; and 612 [565-659] vs 937 [909-964], respectively). Patients with EoRT lymphopenia grade ≥3 (<500 cells/µL) had a higher risk of infection in the 3 months after radiation therapy (hazard ratio, 2.15 [95% confidence interval, 1.53-3.02]; P < .001), compared with patients with an EoRT lymphocyte count >1000 cells/µL. CONCLUSIONS: The lymphocyte count declined during radiation therapy. Short duration schemes (<25 days), despite high total radiation dose (EQD2 >65 Gy), were associated with a higher EoRT lymphocyte count, whereas radiation to multiple sites and concomitant chemotherapy were associated with a lower count. EoRT lymphopenia was associated with an increased risk of infection.


Sujet(s)
Infections/étiologie , Lymphopénie/étiologie , Tumeurs/radiothérapie , Sujet âgé , Antinéoplasiques/effets indésirables , Intervalles de confiance , Danemark , Femelle , Humains , Estimation de Kaplan-Meier , Numération des lymphocytes , Lymphocytes/effets des médicaments et des substances chimiques , Lymphocytes/effets des radiations , Mâle , Adulte d'âge moyen , Tumeurs/sang , Tumeurs/traitement médicamenteux , Composés du platine/effets indésirables , Modèles des risques proportionnels , Dosimétrie en radiothérapie , Analyse de régression , Études rétrospectives , Appréciation des risques , Facteurs temps
12.
Top Stroke Rehabil ; 25(4): 295-304, 2018 05.
Article de Anglais | MEDLINE | ID: mdl-29557275

RÉSUMÉ

Background Slow and asymmetric gait post-stroke may reduce the accuracy of accelerometers (e.g. ActiGraph [AG]) to measure activity. Objectives To (1) determine the validity of AG step counts post-stroke; (2) develop guidelines for low frequency extension filter (LFE) use; and (3) determine the feasibility of daily accelerometer wear. Methods Adults with (n = 33) and without stroke (n = 20) wore three devices for approximately 7 h on a single day: ankle AG, waist AG, and a reference accelerometer at the ankle (REFA). AG step counts processed with and without the LFE were compared to REFA with paired difference tests. Agreement was measured with intraclass correlation coefficients (ICC3,1). Relationships between error (AG - REFA) and motor impairment and gait performance were plotted to determine a threshold for LFE application. A feasibility questionnaire was distributed to participants to investigate the applicability of the AG in clinical populations. Results Step counts from ankle AG in the stroke group (p = 0.53) and waist AG in the healthy group (p = 0.10) were similar to REFA. Waist AG under-counted, and ankle and waist AG with LFE over-counted steps in the stroke group (all p < 0.0001). ICC3,1 ranged from 0.70 to 0.82 (stroke) and 0.79-0.92 (healthy). Ankle AG error and stance time symmetry (stroke) were correlated (r = 0.41, p = 0.02); however, no threshold for LFE application was revealed. Ankle AG was rated very comfortable by 26/33 participants with stroke and 12/20 healthy participants. Conclusions The AG worn at the unaffected ankle without LFE produced the most accurate step count in people with stroke. We were unable to establish guidelines for LFE use.


Sujet(s)
Troubles neurologiques de la marche/diagnostic , Troubles neurologiques de la marche/étiologie , Surveillance électronique ambulatoire/méthodes , Accident vasculaire cérébral/complications , Marche à pied/physiologie , Actigraphie , Adulte , Sujet âgé , Sujet âgé de 80 ans ou plus , Cheville/innervation , Femelle , Humains , Mâle , Adulte d'âge moyen , Reproductibilité des résultats , Indice de gravité de la maladie , Enquêtes et questionnaires
13.
Sci Rep ; 7: 43708, 2017 03 08.
Article de Anglais | MEDLINE | ID: mdl-28272472

RÉSUMÉ

Recessive mutations in WD repeat domain 62 (WDR62) cause microcephaly and a wide spectrum of severe brain malformations. Disruption of the mouse ortholog results in microcephaly underlain by reduced proliferation of neocortical progenitors during late neurogenesis, abnormalities in asymmetric centrosome inheritance leading to neuronal migration delays, and altered neuronal differentiation. Spindle pole localization of WDR62 and mitotic progression are defective in patient-derived fibroblasts, which, similar to mouse neocortical progenitors, transiently arrest at prometaphase. Expression of WDR62 is closely correlated with components of the chromosome passenger complex (CPC), a key regulator of mitosis. Wild type WDR62, but not disease-associated mutant forms, interacts with the CPC core enzyme Aurora kinase B and staining of CPC components at centromeres is altered in patient-derived fibroblasts. Our findings demonstrate critical and diverse functions of WDR62 in neocortical development and provide insight into the mechanisms by which its disruption leads to a plethora of structural abnormalities.


Sujet(s)
Aurora kinase B/génétique , Centrosome/métabolisme , Épistasie , Modes de transmission héréditaire , Microcéphalie/génétique , Protéines de tissu nerveux/génétique , Animaux , Encéphale/malformations , Encéphale/métabolisme , Encéphale/anatomopathologie , Cycle cellulaire/génétique , Protéines du cycle cellulaire , Différenciation cellulaire/génétique , Prolifération cellulaire , Consanguinité , Modèles animaux de maladie humaine , Technique d'immunofluorescence , Expression des gènes , Humains , Mâle , Souris , Souris knockout , Microcéphalie/imagerie diagnostique , Microcéphalie/anatomopathologie , Mutation , Cellules souches neurales/métabolisme , Pedigree , Séquençage du génome entier
14.
Cerebrovasc Dis ; 33(5): 466-70, 2012.
Article de Anglais | MEDLINE | ID: mdl-22507869

RÉSUMÉ

UNLABELLED: BACKGROUNDAND PURPOSE: The etiology of spontaneous cervical artery dissection (CeAD) is poorly understood in most patients. Mild cervical trauma preceding the dissection event is a common finding, but many CeAD occur spontaneously. It is likely that genetic factors may increase the risk for CeAD. However, familial cases are excedingly rare. Familial clustering of CeAD may be accidental or associated with genetic or environmental risk factors shared between affected relatives. In this explorative study, we aim to show that specific risk factors for familial CeAD exist. METHODS: Age of onset, sex, affected artery and number of recurrent CeAD were documented for familial patients and compared with published findings from patients with sporadic CeAD. Concordance of age, sex and dissected artery within the families was analyzed by correlation analysis and by analysis of variance or Kruskal-Wallis testing. RESULTS: The study sample consisted of 9 new patients with a family history of CeAD enrolled in the Neurology Department of the University of Heidelberg or referred to Heidelberg from other centers. The study sample also included published findings from another 23 patients, in total 32 patients. The mean age of the patients with familial CeAD at their first dissections was 38.4 ± 13.3 years. Twenty (62.5%) patients were female and 12 patients (37.5%) suffered multiple dissections. Four patients (12.5%) presented with recurrent dissections after >1 year. Patients with a familial history of CeAD were younger (p = 0.023) and presented more often with multiple dissections (p = 0.024) and recurrent dissections (p = 0.018). Age at the first event (correlation analysis p = 0.026; analysis of variance p = 0.029) and site of the dissection (correlation analysis p = 0.032; Kruskal-Wallis test p = 0.018) differed between the families, and there was no concordance of gender of affected family members (correlation analysis p = 0.500; Kruskal-Wallis test p = 0.211). CONCLUSIONS: The high prevalence of multiple dissection events and of long-term (>1 year) recurrent dissections in patients with a familial history of CeAD indicates that a specific predisposition for familial CeAD exists. Since age of onset and affected vessel differ between families, the risk profile for familial CeAD is heterogeneous. A large-scale (whole exome) sequencing analysis of 14 patients from 7 of the analyzed families is currently being performed in order to identify causative genetic variants.


Sujet(s)
Dissection de l'artère carotide interne/épidémiologie , Dissection de l'artère carotide interne/génétique , Dissection vertébrale/épidémiologie , Dissection vertébrale/génétique , Adolescent , Facteurs âges , Âge de début , Sujet âgé , Analyse de variance , Analyse de regroupements , Femelle , Humains , Mâle , Adulte d'âge moyen , Facteurs de risque , Facteurs sexuels , Jeune adulte
15.
Rev Peru Med Exp Salud Publica ; 27(1): 138-41, 2010 Mar.
Article de Espagnol | MEDLINE | ID: mdl-21072459

RÉSUMÉ

We present the case of a 4.5 years old boy with atypic toxocariasis, from La Matanza, Morropon, Piura. The patient had non-specific symptoms during 9 days. Suspicion of Toxocariasis was supported by marked eosinophilia in the cell blood count (15% or 1470 cells/µL). Diagnosis was confirmed by laboratory with ELISA serology demonstrating the presence of IgG and IgM anti-Toxocara antibodies. Symptoms receded before the patient received a five-day treatment with albendazol 15mg/kg/day.


Sujet(s)
Toxocarose/diagnostic , Enfant d'âge préscolaire , Humains , Mâle , Pérou
16.
Rev. peru. med. exp. salud publica ; 27(1): 138-141, ene.-mar. 2010. tab
Article de Espagnol | LILACS, LIPECS | ID: lil-564525

RÉSUMÉ

Se presenta el caso de un varón de cuatro años y medio con toxocariosis atípica, procedente de La Matanza, Morropón,Piura. El paciente presentó síntomas inespecíficos durante nueve días; la sospecha de toxocariosis derivó del hallazgo de eosinofilia periférica marcada (15 por ciento ó 1470 células/uL) en el hemograma. El diagnóstico se confirmó por serología mediante el método de enzimoinmunoanálisis (ELISA) demostrando la presencia de anticuerpos anti-Toxocara de tipo IgG, así como de tipo IgM. El cuadro se autolimitó antes de que el paciente recibiera tratamiento con albendazol 15mg/ kg/día durante cinco días.


We present the case of a 4.5 years old boy with atypic toxocariasis, from La Matanza, Morropon, Piura. The patienthad non-specific symptoms during 9 days. Suspicion of Toxocariasis was supported by marked eosinophilia in the cellblood count (15 per cent or 1470 cells/uL). Diagnosis was confirmed by laboratory with ELISA serology demonstrating the presence of IgG and IgM anti-Toxocara antibodies. Symptoms receded before the patient received a five-day treatment with albendazol 15mg/kg/day.


Sujet(s)
Humains , Mâle , Enfant d'âge préscolaire , Éosinophilie , Toxocara canis , Toxocarose
17.
Stroke ; 41(4): 814-6, 2010 Apr.
Article de Anglais | MEDLINE | ID: mdl-20150547

RÉSUMÉ

BACKGROUND AND PURPOSE: Lesion volume measurements in disabling ischemic stroke have excellent reliability, but it is not clear whether this is also true for small lesions. We assessed the reliability of measuring baseline and follow-up lesion volumes in transient ischemic attack and minor stroke. METHODS: Patients who presented with a transient ischemic attack or minor stroke (NIHSS < or = 3) who had brain MRI within 24 hours from symptom onset and at 30-day follow-up and had an acute lesion on baseline MRI were included. Using semiautomated software, 4 stroke fellows independently assessed ischemic lesions twice on acute diffusion-weighted imaging and follow-up fluid-attenuated inversion recovery. RESULTS: Eighty patients were included, with a median baseline NIHSS of 1. Mean baseline diffusion-weighted imaging lesion volume was 3.4+/-7.4 mL (87.5% had <5 mL). There was excellent inter-rater/intrarater reliability, with intraclass correlation coefficients of 0.94/0.96 for acute diffusion-weighted imaging, 0.74/0.92 for follow-up fluid-attenuated inversion recovery, and 0.81/0.93 for growth. CONCLUSIONS: We found excellent concordance between and within raters for acute diffusion-weighted imaging and 30-day follow-up fluid-attenuated inversion recovery lesion volume measurements in patients with transient ischemic attack and minor stroke.


Sujet(s)
Accident ischémique transitoire/anatomopathologie , Accident vasculaire cérébral/anatomopathologie , Sujet âgé , Imagerie par résonance magnétique de diffusion , Humains , Mâle , Adulte d'âge moyen , Reproductibilité des résultats , Logiciel
19.
Stroke ; 39(9): 2461-6, 2008 Sep.
Article de Anglais | MEDLINE | ID: mdl-18617658

RÉSUMÉ

BACKGROUND AND PURPOSE: The risk of a recurrent stroke after transient ischemic attack (TIA) or minor stroke is high. Clinical trials are needed to assess acute treatment options in these patients. We sought to evaluate the type of recurrent events and to identify which subsets of patients are at risk for recurrent events. METHODS: One hundred and eighty patients with TIA or minor stroke were examined within 12 hours and underwent brain MRI within 24 hours. Any neurological deterioration was recorded, and a combination of clinical and MRI factors were used to create a combined event classification. Subgroups of patients analyzed included classical TIA, patients with NIHSS=0, and patients with NIHSS >0 in ED. RESULTS: Overall there were 38 events in 36 patients (20% event rate); 20 were symptomatic and 18 were silent (only evident because of the follow up MRI). 18/20 (90%) symptomatic events were associated with progression of presenting symptoms, compared to 2/20 (10%) with a clear recurrent stroke distinct from the original event. We found a low risk of recurrent stroke among classical definition TIA patients (1.1%). Patients with an NIHSS=0 in the ED, had an intermediate event rate (6.6%) between TIA (classical - 1.1%) and NIHSS >0 (14.4%; chi(2) test for trend, P=0.02). All clinical categories of patient (TIA, stroke, NIHSS=0) accumulated silent lesions on MRI. CONCLUSIONS: Most events were classified as stroke progression or infarct growth rather than a recurrent stroke. A low risk of recurrence was found in patients with classical TIA and those with no neurological deficits on initial assessment.


Sujet(s)
Accident ischémique transitoire/épidémiologie , Accident vasculaire cérébral/épidémiologie , Sujet âgé , Études de cohortes , Évolution de la maladie , Femelle , Humains , Incidence , Accident ischémique transitoire/diagnostic , Accident ischémique transitoire/anatomopathologie , Imagerie par résonance magnétique , Mâle , Adulte d'âge moyen , Valeur prédictive des tests , Pronostic , Études prospectives , Récidive , Facteurs de risque , Accident vasculaire cérébral/diagnostic , Accident vasculaire cérébral/anatomopathologie
20.
Acta méd. peru ; 25(2): 58-62, abr.-jun. 2008. tab, graf
Article de Espagnol | LILACS, LIPECS | ID: lil-506770

RÉSUMÉ

Introducción: la bartonelosis humana por Bartonella bacilliformis (BHxBb) o enfermedad de Carrión (EC) es una enfermedad prevalente de los valles interandinos del Perú, tradicionalmente en zonas endémicas reconocidas como Ancash, Cajamarca, Junín y Amazonas. Sin embargo, en los últimos años se han identificado nuevas zonas endémicas como el Valle Sagrado de los Incas, en el Cusco. Objetivo: describir los conocimientos, actitudes y prácticas sobre la bartonelosis aguda (BA) o fiebre de la Oroya (FO), en pobladores del distrito de Ollantaytambo, provincia de Urubamba, Valle Sagrado de los Incas, en el departamento del Cusco en julio del año 2004. Material y método: se realizó un estudio descriptivo de conocimientos, actitudes y prácticas (CAP), utilizando como instrumento una encuesta. Ésta se aplicó a 280 pobladores de diez comunidades en riesgo para bartonelosis aguda o fiebre de la Oroya. Se elaboró una clave de respuestas para determinar el nivel de conocimientos que se clasificó en tres niveles. Resultados: encontramos que, 151/280 (53,94%) pobladores pertenecían al nivel III (avanzado); en caso de presentar sintomatología, 228/242 (94,21%) acudirían a la posta médica; y que 32,02% (92/242) no realiza ninguna medida preventiva. Conclusiones: más de la mitad reconoce de manera óptima aspectos elementales sobre la bartonelosis y el vector que la transmite. La población en su mayoría desconoce qué medidas preventivas son efectivas para evitar la enfermedad, por lo tanto no las practica. Paralelamente la población tiene actitudes favorables para prevenir la enfermedad.


Introduction: Bartonellosis is a prevalent disease in Andean valleys of Peru, typically in endemic areas such as Ancash, Cajamarca, Junín, and Amazonas. However, in the past few years, new endemic areas have been identified, such as the Sacred Valley of the Incas in Cusco. Objective: To describe knowledge, attitude and practices regarding Bartonellosis in persons living in Ollantaytambo District, Urubamba Province in the Sacred Valley of the Incas, Cusco-Peru, July 2004. Materials and Methods: A knowledge, attitude and practices (KAP) survey was conducted in 280 persons from ten communities identified as being at risk for Bartonellosis in Ollantaytambo. A score was used to identify knowledge levels in three categories. Results: We found that 151/280 persons (53.94%) had advanced (level III) knowledge, that in case of feeling sick, 228/242 (94.21%) residents would go to the health care center, and that 32.02% (92/242) do not practice any activity to prevent Bartonellosis. Conclusions: More than half of people living in the surveyed areas adequately recognize basic aspects regarding Bartonellosis and the vector involved in its transmission. Most people do not know preventive measures against; therefore, they do not practice such activities. However, they have a favorable attitude for preventing the disease.


Sujet(s)
Humains , Mâle , Femelle , Bartonella bacilliformis , Connaissances, attitudes et pratiques en santé , Infections à Bartonella , Épidémiologie Descriptive , Études transversales
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