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1.
Radiology ; 310(2): e223097, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38376404

RESUMO

Social determinants of health (SDOH) are conditions influencing individuals' health based on their environment of birth, living, working, and aging. Addressing SDOH is crucial for promoting health equity and reducing health outcome disparities. For conditions such as stroke and cancer screening where imaging is central to diagnosis and management, access to high-quality medical imaging is necessary. This article applies a previously described structural framework characterizing the impact of SDOH on patients who require imaging for their clinical indications. SDOH factors can be broadly categorized into five sectors: economic stability, education access and quality, neighborhood and built environment, social and community context, and health care access and quality. As patients navigate the health care system, they experience barriers at each step, which are significantly influenced by SDOH factors. Marginalized communities are prone to disparities due to the inability to complete the required diagnostic or screening imaging work-up. This article highlights SDOH that disproportionately affect marginalized communities, using stroke and cancer as examples of disease processes where imaging is needed for care. Potential strategies to mitigate these disparities include dedicating resources for clinical care coordinators, transportation, language assistance, and financial hardship subsidies. Last, various national and international health initiatives are tackling SDOH and fostering health equity.


Assuntos
Determinantes Sociais da Saúde , Acidente Vascular Cerebral , Humanos , Diagnóstico por Imagem , Envelhecimento , Acessibilidade aos Serviços de Saúde
2.
J Am Coll Radiol ; 20(11S): S521-S564, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-38040469

RESUMO

Imaging of head and neck cancer at initial staging and as part of post-treatment surveillance is a key component of patient care as it guides treatment strategy and aids determination of prognosis. Head and neck cancer includes a heterogenous group of malignancies encompassing several anatomic sites and histologies, with squamous cell carcinoma the most common. Together this comprises the seventh most common cancer worldwide. At initial staging comprehensive imaging delineating the anatomic extent of the primary site, while also assessing the nodal involvement of the neck is necessary. The treatment of head and neck cancer often includes a combination of surgery, radiation, and chemotherapy. Post-treatment imaging is tailored for the evaluation of treatment response and early detection of local, locoregional, and distant recurrent tumor. Cross-sectional imaging with CT or MRI is recommended for the detailed anatomic delineation of the primary site. PET/CT provides complementary metabolic information and can map systemic involvement. The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision include an extensive analysis of current medical literature from peer reviewed journals and the application of well-established methodologies (RAND/UCLA Appropriateness Method and Grading of Recommendations Assessment, Development, and Evaluation or GRADE) to rate the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where evidence is lacking or equivocal, expert opinion may supplement the available evidence to recommend imaging or treatment.


Assuntos
Neoplasias de Cabeça e Pescoço , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Humanos , Neoplasias de Cabeça e Pescoço/diagnóstico por imagem , Neoplasias de Cabeça e Pescoço/terapia , Imageamento por Ressonância Magnética , Recidiva Local de Neoplasia/diagnóstico por imagem , Recidiva Local de Neoplasia/terapia , Recidiva Local de Neoplasia/patologia , Prognóstico , Sociedades Médicas , Estados Unidos
3.
J Am Coll Radiol ; 20(11S): S574-S591, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-38040471

RESUMO

Tinnitus is abnormal perception of sound and has many subtypes. Clinical evaluation, audiometry, and otoscopy should be performed before ordering any imaging, as the choice of imaging will depend on various factors. Type of tinnitus (pulsatile or nonpulsatile) and otoscopy findings of a vascular retrotympanic lesion are key determinants to guide the choice of imaging studies. High-resolution CT temporal bone is an excellent tool to detect glomus tumors, abnormal course of vessels, and some other abnormalities when a vascular retrotympanic lesion is seen on otoscopy. CTA or a combination of MR and MRA/MRV are used to evaluate arterial or venous abnormalities like dural arteriovenous fistula, arteriovenous malformation, carotid stenosis, dural sinus stenosis, and bony abnormalities like sigmoid sinus wall abnormalities in cases of pulsatile tinnitus without a vascular retrotympanic lesion. MR of the brain is excellent in detecting mass lesions such as vestibular schwannomas in cases of unilateral nonpulsatile tinnitus. The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision process support the systematic analysis of the medical literature from peer reviewed journals. Established methodology principles such as Grading of Recommendations Assessment, Development, and Evaluation or GRADE are adapted to evaluate the evidence. The RAND/UCLA Appropriateness Method User Manual provides the methodology to determine the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where peer reviewed literature is lacking or equivocal, experts may be the primary evidentiary source available to formulate a recommendation.


Assuntos
Zumbido , Doenças Vasculares , Malformações Vasculares , Humanos , Diagnóstico por Imagem/métodos , Sociedades Médicas , Zumbido/diagnóstico por imagem , Estados Unidos
4.
Neurooncol Adv ; 5(1): vdac184, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36685009

RESUMO

Background: Accurate and repeatable measurement of high-grade glioma (HGG) enhancing (Enh.) and T2/FLAIR hyperintensity/edema (Ed.) is required for monitoring treatment response. 3D measurements can be used to inform the modified Response Assessment in Neuro-oncology criteria. We aim to develop an HGG volumetric measurement and visualization AI algorithm that is generalizable and repeatable. Methods: A single 3D-Convoluted Neural Network, NS-HGlio, to analyze HGG on MRIs using 5-fold cross validation was developed using retrospective (557 MRIs), multicentre (38 sites) and multivendor (32 scanners) dataset divided into training (70%), validation (20%), and testing (10%). Six neuroradiologists created the ground truth (GT). Additional Internal validation (IV, three institutions) using 70 MRIs, and External validation (EV, single institution) using 40 MRIs through measuring the Dice Similarity Coefficient (DSC) of Enh., Ed. ,and Enh. + Ed. (WholeLesion/WL) tumor tissue and repeatability testing on 14 subjects from the TCIA MGH-QIN-GBM dataset using volume correlations between timepoints were performed. Results: IV Preoperative median DSC Enh. 0.89 (SD 0.11), Ed. 0.88 (0.28), WL 0.88 (0.11). EV Preoperative median DSC Enh. 0.82 (0.09), Ed. 0.83 (0.11), WL 0.86 (0.06). IV Postoperative median DSC Enh. 0.77 (SD 0.20), Ed 0.78. (SD 0.09), WL 0.78 (SD 0.11). EV Postoperative median DSC Enh. 0.75 (0.21), Ed 0.74 (0.12), WL 0.79 (0.07). Repeatability testing; Intraclass Correlation Coefficient of 0.95 Enh. and 0.92 Ed. Conclusion: NS-HGlio is accurate, repeatable, and generalizable. The output can be used for visualization, documentation, treatment response monitoring, radiation planning, intra-operative targeting, and estimation of Residual Tumor Volume among others.

5.
J Am Coll Radiol ; 19(11S): S266-S303, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-36436957

RESUMO

Cranial neuropathy can result from pathology affecting the nerve fibers at any point and requires imaging of the entire course of the nerve from its nucleus to the end organ in order to identify a cause. MRI with and without intravenous contrast is often the modality of choice with CT playing a complementary role. The ACR Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision process support the systematic analysis of the medical literature from peer-reviewed journals. Established methodology principles such as Grading of Recommendations Assessment, Development, and Evaluation or GRADE are adapted to evaluate the evidence. The RAND/UCLA Appropriateness Method User Manual provides the methodology to determine the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances in which peer-reviewed literature is lacking or equivocal, experts may be the primary evidentiary source available to formulate a recommendation.


Assuntos
Doenças dos Nervos Cranianos , Humanos , Doenças dos Nervos Cranianos/diagnóstico por imagem , Revisão por Pares , Análise de Sistemas
6.
J Am Coll Radiol ; 19(5S): S175-S193, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35550800

RESUMO

This article presents guidelines for initial imaging utilization in patients presenting with sinonasal disease, including acute rhinosinusitis without and with suspected orbital and intracranial complications, chronic rhinosinusitis, suspected invasive fungal sinusitis, suspected sinonasal mass, and suspected cerebrospinal fluid leak. CT and MRI are the primary imaging modalities used to evaluate patients with sinonasal disease. Given its detailed depiction of bony anatomy, CT can accurately demonstrate the presence of sinonasal disease, bony erosions, and anatomic variants, and is essential for surgical planning. Given its superior soft tissue contrast, MRI can accurately identify clinically suspected intracranial and intraorbital complications, delineate soft tissue extension of tumor and distinguish mass from obstructed secretions.The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision include an extensive analysis of current medical literature from peer reviewed journals and the application of well-established methodologies (RAND/UCLA Appropriateness Method and Grading of Recommendations Assessment, Development, and Evaluation or GRADE) to rate the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where evidence is lacking or equivocal, expert opinion may supplement the available evidence to recommend imaging or treatment.


Assuntos
Sinusite , Sociedades Médicas , Humanos , Imageamento por Ressonância Magnética/métodos , Sinusite/diagnóstico por imagem , Estados Unidos
7.
Mayo Clin Proc ; 97(2): 238-249, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-35120692

RESUMO

OBJECTIVE: To examine the association of social determinants of health (SDOH) on prevalence of stroke in non-elderly adults (<65 years of age). METHODS: We used the National Health Interview Survey (2013-2017) database. The study population was stratified into younger (<45 years of age) and middle age (45 to 64 years of age) adults. For each individual, an SDOH aggregate score was calculated representing the cumulative number of individual unfavorable SDOH (present vs absent), identified from 39 subcomponents across five domains (economic stability, neighborhood, community and social context, food, education, and health care system access) and divided into quartiles (quartile 1, most favorable; quartile 4, most unfavorable). Multivariable models tested the association between SDOH score quartiles and stroke. RESULTS: The age-adjusted prevalence of stroke was 1.4% in the study population (n=123,631; 58.2% (n=71,956) in patients <45 years of age). Young adults reported approximately 20% of all strokes. Participants with stroke had unfavorable responses to 36 of 39 SDOH; nearly half (48%) of all strokes were reported by participants in the highest SDOH score quartile. A stepwise increase in age-adjusted stroke prevalence was observed across increasing quartiles of SDOH (first, 0.6%; second, 0.9%; third, 1.4%; and fourth, 2.9%). After accounting for demographics and cardiovascular disease risk factors, participants in the fourth vs first quartile had higher odds of stroke (odds ratio, 2.78; 95% CI, 2.25 to 3.45). CONCLUSION: Nearly half of all non-elderly individuals with stroke have an unfavorable SDOH profile. Standardized assessment of SDOH risk burden may inform targeted strategies to mitigate disparities in stroke burden and outcomes in this population.


Assuntos
Comportamentos Relacionados com a Saúde , Qualidade de Vida , Características de Residência/estatística & dados numéricos , Determinantes Sociais da Saúde/estatística & dados numéricos , Atividades Cotidianas , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Aceitação pelo Paciente de Cuidados de Saúde/estatística & dados numéricos , Fatores de Risco , Fatores Socioeconômicos , Estados Unidos
8.
J Am Coll Radiol ; 18(11S): S406-S422, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-34794597

RESUMO

Hyperparathyroidism is defined as excessive parathyroid hormone production. The diagnosis is made through biochemical testing, in which imaging has no role. However, imaging is appropriate for preoperative parathyroid gland localization with the intent of surgical cure. Imaging is particularly useful in the setting of primary hyperparathyroidism whereby accurate localization of a single parathyroid adenoma can facilitate minimally invasive parathyroidectomy. Imaging can also be useful to localize ectopic or supernumerary parathyroid glands and detail anatomy, which may impact surgery. This document summarizes the literature and provides imaging recommendations for hyperparathyroidism including primary hyperparathyroidism, recurrent or persistent primary hyperparathyroidism after parathyroid surgery, secondary hyperparathyroidism, and tertiary hyperparathyroidism. Recommendations include ultrasound, CT neck without and with contrast, and nuclear medicine parathyroid scans. The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision include an extensive analysis of current medical literature from peer reviewed journals and the application of well-established methodologies (RAND/UCLA Appropriateness Method and Grading of Recommendations Assessment, Development, and Evaluation or GRADE) to rate the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where evidence is lacking or equivocal, expert opinion may supplement the available evidence to recommend imaging or treatment.


Assuntos
Neoplasias das Paratireoides , Medicina Baseada em Evidências , Humanos , Recidiva Local de Neoplasia , Neoplasias das Paratireoides/diagnóstico por imagem , Neoplasias das Paratireoides/cirurgia , Sociedades Médicas , Tomografia Computadorizada por Raios X , Estados Unidos
9.
Anticancer Res ; 41(3): 1445-1449, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33788736

RESUMO

BACKGROUND: Limited brain metastasis is treated definitively with stereotactic radiosurgery when surgical resection is not indicated. Although this has historically been performed in a single fraction, multi-fraction approaches such as fraction radiosurgery (FSRS) and staged radiosurgery (SSRS) have been recently examined as alternative approaches for larger lesions to permit better tumor control without increased toxicity. CASE REPORT: We present the case of a patient who developed symptomatic radionecrosis in two brain metastasis, 2.3 cm and 2.1 cm in size, which were treated with 18 Gy in one fraction, but no radionecrosis in a 3.3 cm lesion treated in two fractions of 15 Gy nor in two punctate lesions that were treated in one fraction of 20 Gy. Although she did not respond to steroids, she responded to bevacizumab symptomatically and on neuroimaging. CONCLUSION: Congruent with other recent studies, our report suggests that large brain metastasis should be considered for FSRS/SSRS.


Assuntos
Neoplasias Encefálicas/radioterapia , Encéfalo/efeitos da radiação , Fracionamento da Dose de Radiação , Radiocirurgia/métodos , Adulto , Antineoplásicos Imunológicos/uso terapêutico , Bevacizumab/uso terapêutico , Encéfalo/efeitos dos fármacos , Encéfalo/patologia , Neoplasias Encefálicas/tratamento farmacológico , Neoplasias Encefálicas/secundário , Feminino , Humanos , Necrose/radioterapia , Resultado do Tratamento
10.
J Am Coll Radiol ; 16(5S): S161-S173, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31054742

RESUMO

Neuroendocrine dysfunction includes suspected hyper- and hypofunction of the pituitary gland. Causative lesions may include primary masses of the pituitary such as pituitary microadenomas and macroadenomas, as well as extrinsic masses, typically centered in the suprasellar cistern. Clinical syndromes related to hormonal dysfunction can be caused by excessive hormonal secretion or by inhibited secretion due to mass effect upon elements of the hypothalamic-pituitary axis. Additionally, complications such as hemorrhage may be seen in the setting of an underlying mass and can result in hormonal dysfunction. MRI with high-resolution protocols is the best first-line test to evaluate the sella turcica and parasellar region. CT provides complementary information regarding bony anatomy, and may be appropriate as a first-line test in certain instances, but it provides less detail and lesion characterization when compared to MRI. The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision include an extensive analysis of current medical literature from peer reviewed journals and the application of well-established methodologies (RAND/UCLA Appropriateness Method and Grading of Recommendations Assessment, Development, and Evaluation or GRADE) to rate the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where evidence is lacking or equivocal, expert opinion may supplement the available evidence to recommend imaging or treatment.


Assuntos
Doenças da Hipófise/diagnóstico por imagem , Meios de Contraste , Diagnóstico Diferencial , Medicina Baseada em Evidências , Humanos , Sociedades Médicas , Estados Unidos
11.
J Tissue Eng Regen Med ; 12(1): e495-e512, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-27689781

RESUMO

Cardiac tissue engineering (CTE) is currently a prime focus of research because of an enormous clinical need. In the present work, a novel functional material, poly(3-hydroxyoctanoate), P(3HO), a medium chain-length polyhydroxyalkanoate (PHA), produced using bacterial fermentation, was studied as a new potential material for CTE. Engineered constructs with improved mechanical properties, crucial for supporting the organ during new tissue regeneration, and enhanced surface topography, to allow efficient cell adhesion and proliferation, were fabricated. Results showed that the mechanical properties of the final patches were close to that of cardiac muscle. Biocompatibility of neat P(3HO) patches, assessed using neonatal ventricular rat myocytes (NVRM), showed that the polymer was as good as collagen in terms of cell viability, proliferation and adhesion. Enhanced cell adhesion and proliferation properties were observed when porous and fibrous structures were incorporated into the patches. In addition, no deleterious effect was observed on adult cardiomyocyte contraction when cardiomyocytes were seeded on the P(3HO) patches. Hence, P(3HO)-based multifunctional cardiac patches are promising constructs for efficient CTE. This work will have a positive impact on the development of P(3HO) and other PHAs as a novel new family of biodegradable functional materials with huge potential in a range of different biomedical applications, particularly CTE, leading to further interest and exploitation of these materials. Copyright © 2016 John Wiley & Sons, Ltd.


Assuntos
Caprilatos/farmacologia , Coração/fisiologia , Teste de Materiais , Engenharia Tecidual/métodos , Animais , Linhagem Celular , Proliferação de Células/efeitos dos fármacos , Coração/efeitos dos fármacos , Camundongos , Contração Miocárdica/efeitos dos fármacos , Miócitos Cardíacos/citologia , Miócitos Cardíacos/efeitos dos fármacos , Ratos , Temperatura , Fator A de Crescimento do Endotélio Vascular/metabolismo
12.
Magn Reson Imaging ; 34(5): 662-7, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26743428

RESUMO

BACKGROUND: Non-infarct zone white matter wallerian degeneration is well-documented in large volume territorial infarctions. However to what extent these abnormalities exist in small volume infarction is not known, particularly since routine T2/FLAIR MR images show minimal changes in such cases. We therefore utilized DTI based quantitative 3D tractography for quantitative assessment of white matter integrity in chronic phase of small volume anterior circulation infarcts. METHODS: Eleven chronic stroke subjects with small anterior circulation large vessel infarcts (≤10cm(3) volume of primary infarct) were compared with 8 age matched controls. These infarcts had negligible to mild gliosis and encephalomalacia in the primary infarct territory without obvious wallerian degeneration on conventional MRI. Quantitative Diffusion Tensor 3-D tractography was performed for CST, genu and splenium of corpus callosum. Tract based Trace and fractional anisotropy (FA) were compared with age matched controls. RESULTS: On univariate analysis, Chronic stroke subjects had significant elevation in Trace measurement in genu of corpus callosum (GCC), ipsilesional and contralesional CST, (p<0.05), compared to controls. After adjusting for smoking, hypertension (HTN) and non-specific white matter hyperintensities, (WMHs), there was significant elevation in trace within the ipsilesional CST (p=0.05). Contralesional CST FA correlated significantly with walking speed, r=0.67, p=0.03. CONCLUSIONS: Stroke subjects with small volume infarcts demonstrate significant quantitative microstructural white matter abnormalities in chronic phase, which are otherwise subthreshold for detection on routine imaging. Ability to quantify these changes provides an important marker for assessing non-infarct zone neuroaxonal integrity in the chronic phase even in the setting of small infarction.


Assuntos
Corpo Caloso/diagnóstico por imagem , Corpo Caloso/fisiopatologia , Imagem de Tensor de Difusão/métodos , Imageamento Tridimensional/métodos , Acidente Vascular Cerebral/diagnóstico por imagem , Acidente Vascular Cerebral/fisiopatologia , Idoso , Idoso de 80 Anos ou mais , Doença Crônica , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
13.
Lancet Neurol ; 6(8): 687-92, 2007 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-17618834

RESUMO

BACKGROUND: Favourable outcomes have been reported for patients with childhood cerebral adrenoleukodystrophy (CCALD) who had received haematopoietic cell transplantation (HCT) at the early stage of cerebral involvement. However, comparative data for non-transplanted CCALD patients are limited. We analysed survival of CCALD patients who had not received HCT and, in a subgroup with early cerebral disease, compared survival in those who underwent HCT with those who did not. METHODS: Retrospective survival analyses were done on 283 CCALD patients identified at the Kennedy Krieger Institute who had not received HCT, focusing on a 30-member early stage cerebral subgroup whose neurological disability and MRI severity scores matched those in a 19-member transplanted subgroup previously reported. A Kaplan-Meier survival curve and log-rank test were used for survival analysis and to estimate the difference between the survival probabilities of the groups with statistical significance set at alpha=0.05. FINDINGS: Mean age at onset of symptoms in the entire 283 non-transplanted group was 7 years (SD 2 years). 131 (46%) patients died during the mean follow-up period of 5.9 years (5.3) at a mean age of 12.3 years (4.9). 5-year survival was 66%. The 5-year survival probability of 54% in the early stage group was significantly poorer (chi(2)=7.47, p=0.006) than the 5-year survival of 95% in the transplanted group with early stage cerebral disease. INTERPRETATION: HCT done in the early and progressive stages of CCALD is beneficial, and our data support the recommendation that transplantation be offered to patients in the early stages of CCALD.


Assuntos
Adrenoleucodistrofia/mortalidade , Transplante de Células-Tronco/estatística & dados numéricos , Adrenoleucodistrofia/terapia , Criança , Progressão da Doença , Feminino , Humanos , Imunossupressores/uso terapêutico , Estudos Longitudinais , Imageamento por Ressonância Magnética/métodos , Masculino , Estudos Retrospectivos , Transplante de Células-Tronco/métodos , Transplante de Células-Tronco/mortalidade , Análise de Sobrevida , Fatores de Tempo , Resultado do Tratamento
14.
JAMA ; 294(24): 3131-4, 2005 Dec 28.
Artigo em Inglês | MEDLINE | ID: mdl-16380594

RESUMO

X-linked adrenoleukodystrophy (X-ALD), which was first described in 1923, was viewed until 1976 as a rare and inexorably fatal neurodegenerative disorder that affected boys. The genetic defect and biochemical abnormalities have now been defined. Ongoing research has resulted in new findings: (1) there is a wide range of phenotypic expression. At least half of patients with X-ALD are adults with somewhat milder manifestations, and women who are carriers may become symptomatic. X-ALD is often misdiagnosed as attention-deficit/hyperactivity disorder in boys and as multiple sclerosis in men and women, and is not an uncommon cause of Addison disease; (2) the incidence of X-ALD, estimated to be 1:17,000 in all ethnic groups, approximates that of phenylketonuria; (3) noninvasive and presymptomatic diagnosis and prenatal diagnosis are available; family screening and genetic counseling are key to disease prevention; and (4) new therapies, applied early, show promise. Neonatal screening is likely to become available, and a wider awareness of X-ALD and its various modes of presentation permit new proactive approaches to this distressing disorder.


Assuntos
Adrenoleucodistrofia , Corticosteroides/uso terapêutico , Adrenoleucodistrofia/diagnóstico , Adrenoleucodistrofia/genética , Adrenoleucodistrofia/fisiopatologia , Adrenoleucodistrofia/terapia , Combinação de Medicamentos , Ácidos Erúcicos/uso terapêutico , Ácidos Graxos/sangue , Transplante de Células-Tronco Hematopoéticas , Terapia de Reposição Hormonal , Humanos , Fenótipo , Trioleína/uso terapêutico
15.
Pediatr Transplant ; 9 Suppl 7: 55-62, 2005 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-16305618

RESUMO

X-linked adrenoleukodystrophy (X-ALD) in males can present with eight distinct phenotypes, which vary greatly in respect to phenotypic expression, age of onset and rate of progression and therapy. The plasma very long chain fatty acid assay permits precise diagnosis and is already abnormal at birth. The clinical features, molecular biology, pathogenesis, and therapeutic approaches, including the indications for Hematopoietic Stem Cell Transplants (HCT) and dietary therapy are discussed, with emphasis on the asymptomatic, childhood cerebral, and adrenomyeloneuropathy phenotypes. The rationale for neonatal screening and the profound effect that such screening would have on the therapy of X-ALD, including the role of HCT, are discussed.


Assuntos
Adrenoleucodistrofia/genética , Adrenoleucodistrofia/terapia , Encefalopatias/genética , Transplante de Células-Tronco Hematopoéticas , Adolescente , Adrenoleucodistrofia/diagnóstico , Adrenoleucodistrofia/etiologia , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Triagem Neonatal , Fenótipo
16.
Arch Neurol ; 62(7): 1073-80, 2005 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-16009761

RESUMO

OBJECTIVES: To identify asymptomatic boys with X-linked adrenoleukodystrophy who have a normal magnetic resonance image (MRI), and to assess the effect of 4:1 glyceryl trioleate-glyceryl trierucate (Lorenzo's oil) on disease progression. METHOD: Eighty-nine boys (mean +/- SD baseline age, 4.7 +/- 4.1 years; range, 0.2-15 years) were identified by a plasma very long-chain fatty acids assay used to screen at-risk boys. All were treated with Lorenzo's oil and moderate fat restriction. Plasma fatty acids and clinical status were followed for 6.9 +/- 2.7 years. Changes in plasma hexacosanoic acid levels were assessed by measuring the length-adjusted area under the curve, and a proportional hazards model was used to evaluate association with the development of abnormal MRI results and neurological abnormalities. RESULTS: Of the 89 boys, 24% developed MRI abnormalities and 11% developed both neurological and MRI abnormalities. Abnormalities occurred only in the 64 patients who were aged 7 years or younger at the time therapy was started. There was significant association between the development of MRI abnormalities and a plasma hexacosanoic acid increase. (For a 0.1-microg/mL increase in the length-adjusted area under the curve for the hexacosanoic acid level, the hazard ratio for incident MRI abnormalities in the whole group was 1.36; P = .01; 95% confidence interval, 1.07-1.72.) Results for patients aged 7 years or younger were similar (P = .04). CONCLUSIONS: In this single-arm study, hexacosanoic acid reduction by Lorenzo's oil was associated with reduced risk of developing MRI abnormalities. We recommend Lorenzo's oil therapy in asymptomatic boys with X-linked adrenoleukodystophy who have normal brain MRI results.


Assuntos
Adrenoleucodistrofia/tratamento farmacológico , Adrenoleucodistrofia/patologia , Encéfalo/patologia , Ácidos Erúcicos/uso terapêutico , Trioleína/uso terapêutico , Adrenoleucodistrofia/genética , Biomarcadores/análise , Criança , Pré-Escolar , Gorduras Insaturadas na Dieta , Combinação de Medicamentos , Ácidos Graxos/sangue , Seguimentos , Humanos , Imageamento por Ressonância Magnética , Masculino , Fatores de Risco , Resultado do Tratamento
17.
Curr Opin Neurol ; 17(3): 263-9, 2004 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-15167059

RESUMO

PURPOSE OF REVIEW: The purpose of this article is to review and evaluate the new information about X-linked adrenoleukodystrophy that has been reported in 2002 and 2003. RECENT FINDINGS: X-linked adrenoleukodystrophy has two distinct neurological phenotypes: adrenomyeloneuropathy, a non-inflammatory axonopathy mostly in adults, and an intensely inflammatory cerebral myelinopathy mostly in children. The two forms often co-occur in the same family. Heterozygous women and the X-linked adrenoleukodystrophy mouse model often have the adrenomyeloneuropathy phenotype. More than 500 distinct mutations in the defective gene (ABCD1) have been identified, and except in one unique family, do not correlate with the phenotype. Bone marrow transplantation is beneficial in patients with early cerebral involvement. A panel of brain neuroimaging studies aids the selection of patients for bone marrow transplantation. Lorenzo's oil administered to neurologically asymptomatic boys who are less than 6 years old and have a normal magnetic resonance imaging scan appears to reduce the probability of developing neurological abnormalities later in life. SUMMARY: Progress has been achieved in the delineation of the phenotypes, pathogenesis, diagnosis and prevention of X-linked adrenoleukodystrophy, and therapies are emerging.


Assuntos
Adrenoleucodistrofia , Adrenoleucodistrofia/diagnóstico , Adrenoleucodistrofia/genética , Adrenoleucodistrofia/patologia , Adrenoleucodistrofia/terapia , Adulto , Animais , Transplante de Medula Óssea , Criança , Pré-Escolar , Combinação de Medicamentos , Ácidos Erúcicos/uso terapêutico , Feminino , Deleção de Genes , Heterozigoto , Humanos , Imageamento por Ressonância Magnética , Masculino , Resultado do Tratamento , Trioleína/uso terapêutico
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