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1.
Clin Psychol Psychother ; 30(3): 702-713, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36662537

RESUMO

As a result of experiencing oppression-based stressors and trauma, suicide rates for lesbian, gay, bisexual and transgender (LGBTQ+) individuals are much higher than in the general population, and for trans and gender non-binary (TGNB) individuals specifically, rates of suicidality are even higher. To best understand how to engage in suicide prevention and intervention efforts for TGNB individuals, it is therefore crucial to understand factors that may mitigate suicidality for TGNB individuals. The purpose of this study was to examine the relationship between protective factors-body acceptance, optimism, social support and pride-and suicidality for TGNB adults. A total of 139 TGNB participants completed an online survey about suicidal behaviours, transgender-specific risk factors and transgender-specific protective factors. High rates of suicidality were observed in our sample. Initial results suggested that only optimism was inversely significantly related to suicidality. Given that optimism, which suggests a belief in a better future, has been found in previous studies to buffer the effects of deleterious stressors, optimism was also examined as a mediator between body acceptance (a key feature of gender dysphoria) and suicidality. Results suggested that optimism did mediate the relationship between body acceptance and suicidality. Optimism appears to be an important protective factor against suicidality for TGNB individuals and thus a potentially important target of intervention.


Assuntos
Minorias Sexuais e de Gênero , Suicídio , Pessoas Transgênero , Adulto , Feminino , Humanos , Ideação Suicida , Fatores de Proteção
2.
J Environ Manage ; 206: 807-816, 2018 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-29182931

RESUMO

Managers of invasive species consider the peer-reviewed literature only moderately helpful for guiding their management programs. Though this "knowing-doing gap" has been well-described, there have been few efforts to guide scientists in how to develop useful and usable science. Here we demonstrate how a comprehensive survey of managers (representing 42 wetland management units across the Great Salt Lake watershed) can highlight management practices and challenges (here for the widespread invasive plant, Phragmites australis, a recent and aggressive invader in this region) to ultimately inform a research program. The diversity of surveyed organizations had wide-ranging amounts of Phragmites which led to different goals and approaches including more aggressive control targets and a wider array of control tools for smaller, private organizations compared to larger government-run properties. We found that nearly all managers (97%) used herbicide as their primary Phragmites control tool, while burning (65%), livestock grazing (49%), and mowing (43%) were also frequently used. Managers expressed uncertainties regarding the timing of herbicide application and type of herbicide for effective control. Trade-offs between different Phragmites treatments were driven by budgetary concerns, as well as environmental conditions like water levels and social constraints like permitting issues. Managers had specific ideas about the plant communities they desired following Phragmites control, yet revegetation of native species was rarely attempted. The results of this survey informed the development of large-scale, multi-year Phragmites control and native plant revegetation experiments to address management uncertainties regarding herbicide type and timing. The survey also facilitated initial scientist-manager communication, which led to collaborations and knowledge co-production between managers and researchers. An important outcome of the survey was that experimental results were more pertinent to manager needs and trusted by managers. Such an approach that integrates manager surveys to inform management experiments could be adapted to any developing research program seeking to be relevant to management audiences.


Assuntos
Espécies Introduzidas , Poaceae , Áreas Alagadas , Animais , Gado , Controle de Plantas Daninhas
3.
Clin Immunol ; 155(2): 209-12, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25264263

RESUMO

Coenzyme Q10 (CoQ10) deficiency can manifest diversely, from isolated myopathy to multisystem involvement. Immune dysregulation has not been reported as a feature of the disease. We report a four-year old girl with failure to thrive, recurrent infections, developmental delay with hypotonia, and CoQ10 deficiency with impaired immune function, which improved after CoQ10 and immunoglobulin replacement therapy. Immune dysfunction in CoQ10 deficiency should be considered and treated appropriately.


Assuntos
Ataxia/imunologia , Ataxia/metabolismo , Imunidade/fisiologia , Doenças Mitocondriais/imunologia , Doenças Mitocondriais/metabolismo , Debilidade Muscular/imunologia , Debilidade Muscular/metabolismo , Ubiquinona/análogos & derivados , Ubiquinona/deficiência , Ataxia/diagnóstico , Ataxia/tratamento farmacológico , Pré-Escolar , Terapia de Reposição de Enzimas , Feminino , Humanos , Imunoglobulina G/sangue , Imunoglobulina G/imunologia , Subpopulações de Linfócitos/imunologia , Subpopulações de Linfócitos/metabolismo , Doenças Mitocondriais/diagnóstico , Doenças Mitocondriais/tratamento farmacológico , Debilidade Muscular/diagnóstico , Debilidade Muscular/tratamento farmacológico , Resultado do Tratamento , Ubiquinona/imunologia , Ubiquinona/metabolismo , Ubiquinona/uso terapêutico
4.
Transpl Infect Dis ; 16(1): 76-83, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-24350627

RESUMO

BACKGROUND: The epidemiology of nontuberculous mycobacteria (NTM) disease in solid organ transplant recipients is poorly defined. METHODS: We identified all solid organ transplant recipients with NTM disease at a single center over a 7.5-year period, and collected data on patient demographics, co-morbidities, immunosuppressive medications, and rejection. We conducted a case-control study to identify risk factors for disease, matching 3 control patients to each case patient by date of transplantation. RESULTS: A total of 34 cases of NTM disease occurred during the study period, involving 6 single lung, 13 bilateral lung, 8 heart, 4 liver, 2 kidney, and 1 pancreas-kidney recipients. Cases were predominantly male (24/34), with a median age of 55 years (interquartile range [IQR]: 46-61 years), and developed after a median of 8 months post transplantation (IQR: 2-87 months). Mycobacterium abscessus and Mycobacterium avium complex were the most common pathogens, and the lung (including pleura) was the most common site of disease. In the adjusted case-control analysis, lung transplant recipients had the highest risk of NTM disease. CONCLUSIONS: Additional studies are needed to evaluate the role of targeted surveillance measures for NTM disease in high-risk patients, particularly lung transplant recipients, and to characterize the mechanisms of disease acquisition.


Assuntos
Infecções por Mycobacterium não Tuberculosas/epidemiologia , Infecção por Mycobacterium avium-intracellulare/epidemiologia , Transplante de Órgãos , Tuberculose Pulmonar/epidemiologia , Fatores Etários , Estudos de Casos e Controles , Estudos de Coortes , Feminino , Transplante de Coração , Humanos , Imunossupressores/uso terapêutico , Transplante de Rim , Transplante de Fígado , Modelos Logísticos , Transplante de Pulmão , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Infecções por Mycobacterium não Tuberculosas/imunologia , Infecções por Mycobacterium não Tuberculosas/microbiologia , Complexo Mycobacterium avium/isolamento & purificação , Infecção por Mycobacterium avium-intracellulare/imunologia , Mycobacterium kansasii/isolamento & purificação , Mycobacterium marinum/isolamento & purificação , Transplante de Pâncreas , Fatores de Risco , Fatores Sexuais , Fatores de Tempo , Tuberculose Pulmonar/imunologia , Tuberculose Pulmonar/microbiologia
5.
J Musculoskelet Neuronal Interact ; 14(3): 334-42, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25198229

RESUMO

OBJECTIVE: The aims of this study were to: i) to compare physical impairments in people with chondrolabral pathology identified at hip arthroscopy 12-24 months previously to age-matched healthy people; and ii) to understand whether sex has any influence on impairments. METHODS: 84 patients (42 female; age=36±10) 12-24 months post hip arthroscopy and 60 controls (41 female; age=36±10) were included. Measurements of active hip ROM and strength were assessed. Two-way analyses of co-variance examined the effect of sex and chondrolabral pathology on hip ROM and strength. RESULTS: Patients exhibited less hip internal rotation (IR) ROM (p=0.001) and more extension (p=0.014) ROM; and less hip adduction (p<0.001), extension (p=0.001), flexion (p<0.001), ER (p=0.044) and IR (p<0.001) strength when compared to controls. For abduction strength, a significant interaction was found between the presence of chondrolabral pathology and sex (p=0.035). CONCLUSIONS: People with hip chondrolabral pathology have differences in hip ROM and strength when compared to controls. Rehabilitation programs should focus on addressing these specific physical impairments in order to enhance outcomes. This information may be of great value to both researchers and clinicians alike in determining interventions to improve outcomes in people with early hip OA.


Assuntos
Articulação do Quadril/fisiopatologia , Força Muscular , Osteoartrite do Quadril/fisiopatologia , Amplitude de Movimento Articular , Adolescente , Adulto , Artroscopia , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Caracteres Sexuais , Adulto Jovem
6.
Nat Genet ; 5(2): 180-3, 1993 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-8252044

RESUMO

Familial exudative vitreoretinopathy (FEVR) is a hereditary disorder characterized by an abnormality of the peripheral retina. Both autosomal dominant (adFEVR) and X-linked (XLFEVR) forms have been described, but the biochemical defect(s) underlying the symptoms are unknown. Molecular analysis of the Norrie gene locus (NDP) in a four generation FEVR family (shown previously to exhibit linkage to the X-chromosome markers DXS228 and MAOA (Xp11.4-p11.3)) reveals a missense mutation in the highly conserved region of the NDP gene, which caused a neutral amino acid substitution (Leu124Phe), was detected in all of the affected males, but not in the unaffected family members, nor in normal controls. The observations suggest that phenotypes of both XLFEVR and Norrie disease can result from mutations in the same gene.


Assuntos
Proteínas do Olho/genética , Mutação , Proteínas do Tecido Nervoso/genética , Doenças Retinianas/genética , Corpo Vítreo , Cromossomo X , Adolescente , Sequência de Bases , Criança , DNA Complementar , Oftalmopatias/genética , Feminino , Ligação Genética , Humanos , Masculino , Dados de Sequência Molecular , Linhagem , Retina/anormalidades , Corpo Vítreo/anormalidades
7.
Nat Genet ; 1(3): 204-8, 1992 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-1303236

RESUMO

Previous analysis has refined the location of the gene for Norrie disease, a severe, X-linked, recessive neurodevelopmental disorder, to a yeast artificial chromosome subfragment of 160 kilobases (kb). This fragment was used to screen cDNA libraries from human fetal and adult retina. As a result, we have identified an evolutionarily conserved cDNA, which is expressed in fetal and adult brain and encodes a predicted protein of 133 amino acids. The cDNA detects genomic sequences which span a maximum of 50 kb, and which are partly deleted in several typical Norrie disease patients. An EcoRI polymorphism with a calculated heterozygosity value of 43% was observed. The locus identified is a strong candidate for the Norrie disease gene.


Assuntos
Cegueira/genética , Cromossomo X , Sequência de Aminoácidos , Sequência de Bases , Cegueira/congênito , Mapeamento Cromossômico , Cromossomos Fúngicos , DNA/genética , Análise Mutacional de DNA , Biblioteca Gênica , Ligação Genética , Humanos , Masculino , Dados de Sequência Molecular , Deleção de Sequência
8.
S Afr J Sports Med ; 35(1): v35i1a15172, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38249766

RESUMO

Background: Recent guidelines (including a special series in The Lancet) have emphasised a minimal role for imaging when assessing low back pain in adults, as the majority of patients will have non-specific findings on imaging that do not correlate well with pain. Objective: To assess whether the diagnosis of lumbar bone stress injuries in young athletes should be considered an exception to the recommendation to avoid imaging for low back pain in adults. Method: Narrative review. Results: Early lumbar bone stress injury diagnosis has been available via traditional MRI sequences (and its precursor Single Photon Emission Computed Tomography (SPECT)) for 25-30 years. MRI assessments using bone window sequences (such as Volumetric Interpolated Breath-hold Examination (VIBE)) have allowed a better understanding of the diagnosis and prognosis of lumbar bone stress injury in young athletes. MRI with bone sequences has allowed non-radiating scans to serially follow the healing of unilateral stress fractures. In the majority of cases, non-chronic unilateral fractures can heal; however, this takes three-six months rather than the six-ten weeks that would be the typical unloading period if using symptoms (only) as a guide. The use of MRI to provide evidence of bony healing (as opposed to fibrous union, which creates the pars defect that predisposes to further bone stress lesions) can lead to better long-term outcomes in athletes. There is evidence to flag this as a structural lesion which is both painful and, more importantly, can heal/resolve if managed correctly. Therefore it represents an important 'specific' diagnostic subset within adult low back pain. Conclusion: Structural (rather than functional) management of bone stress injuries in high-demand athletes, such as cricket pace bowlers, is in contrast to the recommendation of functional management for general back pain in adults. Structural management is justified when there are demonstrable superior outcomes of having better structure. Although this has not yet been shown in randomised trials of elite athletes, apparent lengthier Test cricket careers of pace bowlers who do not have pars defects suggest better athletic outcomes if bony healing is achieved. For lower demand young adults, or athletes with established bilateral pars defects, functional management may be more pragmatic.

9.
Neurogastroenterol Motil ; 35(5): e14548, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-36942766

RESUMO

BACKGROUND: Gulf War Illness (GWI) is a chronic, multi-symptom disorder affecting 25%-32% of Gulf War veterans. Veterans with GWI disproportionately suffer from gastrointestinal (GI) disorders. Given the increasing evidence supporting a gut-brain axis, we explore the relationship between post-traumatic stress disorder (PTSD), GWI, and self-reported GI disorders among GW veterans. METHODS: Veterans from the Gulf War Era Cohort and Biorepository responded to a mail-based survey (N = 1058). They were stratified by GWI (Centers for Disease Control definition) and PTSD status. This yielded three groups: GWI-, GWI+/PTSD-, and GWI+/PTSD+. Multivariable logistic regression adjusting for demographic and military characteristics examined associations between GWI/PTSD groups and GI disorders. Results were expressed as adjusted odds ratios (aOR) with 95% confidence intervals (95% CI). KEY RESULTS: The most frequently reported GI disorders were irritable bowel syndrome (IBS), gastroesophageal reflux disease (GERD), and colon polyps (CP). The GWI+/PTSD+ group had a higher odds of these disorders than the GWI+/PTSD- group (aORIBS  = 3.12, 95% CI: 1.93-5.05; aORGERD  = 2.04, 95% CI: 1.44-2.90; aORCP  = 1.85, 95% CI: 1.23-2.80), which had a higher odds of these disorders than the GWI- group (aORIBS  = 4.38, 95% CI: 1.55-12.36; aORGERD  = 2.51 95% CI: 1.63-3.87; aORCP  = 2.57, 95% CI: 1.53-4.32). CONCLUSIONS & INFERENCES: GW veterans with GWI and PTSD have significantly higher odds of specific self-reported GI disorders than the other groups. Given the known bidirectional influences of the gut and brain, these veterans may benefit from a holistic healthcare approach that considers biopsychosocial contributors to the assessment and management of disease.


Assuntos
Refluxo Gastroesofágico , Gastroenteropatias , Síndrome do Intestino Irritável , Síndrome do Golfo Pérsico , Transtornos de Estresse Pós-Traumáticos , Veteranos , Humanos , Veteranos/psicologia , Autorrelato , Guerra do Golfo
10.
Transpl Infect Dis ; 14(2): 149-55, 2012 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-22260410

RESUMO

BACKGROUND: Cytomegalovirus (CMV) disease typically occurs during the first year after solid organ transplantation, after cessation of antiviral prophylaxis. CMV occurring after the first year is uncommon and not well described. METHODS: We conducted a case-control study to identify potential risk factors and a retrospective cohort study to evaluate 1-month mortality in solid organ transplant (SOT) recipients who developed CMV disease after the first year post transplant, or "very late CMV" (VLCMV), compared with those developing CMV within the first year (CMV Y1), adjusting for demographics, donor and recipient CMV serostatus, immunosuppression, rejection, and co-morbidities. RESULTS: We identified 85 SOT recipients with CMV disease at a single transplant center between January 2006 and October 2008: 23 (27%) had VLCMV and 62 (73%) had CMV Y1. Heart transplantation was independently associated with increased risk (adjusted odd ratio [OR] 4.11; 95% confidence interval [CI] 1.34-12.61; P = 0.01) for VLCMV. Patients with VLCMV had increased 1-month mortality (unadjusted OR 5.39; 95% CI 1.06-27.48; P = 0.02). Mortality was uncommonly attributable to CMV. CONCLUSIONS: CMV disease continues to occur after the first year post solid organ transplantation, particularly in heart transplant recipients, and can be associated with poor outcomes. CMV should be suspected in patients with symptoms or laboratory findings consistent with CMV, even if the patients present >1 year post transplant.


Assuntos
Infecções por Citomegalovirus/virologia , Transplante de Órgãos/efeitos adversos , Antivirais/administração & dosagem , Antivirais/uso terapêutico , Infecções por Citomegalovirus/mortalidade , Infecções por Citomegalovirus/patologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Transplante de Órgãos/mortalidade , Fatores de Risco , Fatores de Tempo , Viremia
11.
Plants (Basel) ; 10(3)2021 Mar 04.
Artigo em Inglês | MEDLINE | ID: mdl-33806521

RESUMO

The genus Monarda (family Lamiaceae) contains 22 species of which three are native to southern Alabama, M. citriodora, M. fistulosa, and M. punctata. Several species of Monarda have been used in traditional medicines of Native Americans, and this present study is part of an ongoing project to add to our understanding of Native American pharmacopeia. Plant material from M. citriodora, M. fistulosa, and M. punctata was collected in south Alabama and the essential oils obtained by hydrodistillation. The essential oils were analyzed by gas chromatographic techniques to determine the chemical compositions as well as enantiomeric distributions. The compounds thymol, carvacrol, p-cymene, and their derivatives were the primary terpenoid components found in the essential oils. The known biological activities of these compounds are consistent with the traditional uses of Monarda species to treat wounds, skin infections, colds, and fevers.

12.
Plants (Basel) ; 10(6)2021 May 25.
Artigo em Inglês | MEDLINE | ID: mdl-34070663

RESUMO

As part of our evaluation of essential oils derived from Native American medicinal plants, we have obtained the essential oils of Agastache foeniculum (Pursch) Kuntze (Lamiaceae), Gaultheria procumbens L. (Ericaceae), Heliopsis helianthoides (L.) Sweet (Asteraceae), Liatris spicata (L.) Willd. (Asteraceae), Pycnanthemum incanum (L.) Michx. (Lamiaceae), Smallanthus uvedalia (L.) Mack. ex Mack. (Asteraceae), and Verbena hastata L. (Verbenaceae) by hydrodistillation. The essential oils were analyzed by gas chromatographic techniques. The essential oil of A. foeniculum was dominated by estragole (88-93%), while methyl salicylate (91%) dominated the G. procumbens essential oil. Germacrene D was the major component in H. helianthoides (42%) and L. spicata (24%). 1,8-Cineole (31%) and α-terpineol (17%) were the main compounds in P. incanum essential oil. The essential oil of S. uvedalia showed α-pinene (24%), perillene (15%), and ß-caryophyllene (17%) as major components. Verbena hastata essential oil was rich in 1-octen-3-ol (up to 29%) and palmitic acid (up to 22%). Four of these essential oils, H. helianthoides, L. spicata, P. incanum, and V. hastata, are reported for the first time. Additionally, the enantiomeric distributions of several terpenoid components have been determined.

13.
Scand J Med Sci Sports ; 20(6): 834-42, 2010 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19804578

RESUMO

The purpose of this study was to document the effect of a staged stabilization training program on the motor control of the anterolateral abdominal muscles in elite cricketers with and without low back pain (LBP). Changes in the cross-sectional area of the trunk, the thickness of the internal oblique and transversus abdominis (TrA) muscles and the shortening of the TrA muscle in response to an abdominal drawing-in task were measured at the start and completion of a 13-week cricket training camp. Measures were performed using ultrasound imaging and magnetic resonance imaging. Participants from the group with LBP underwent a stabilization training program that involved performing voluntary contractions of the multifidus, TrA and pelvic floor muscles, while receiving feedback from ultrasound imaging. By the end of the training camp, the motor control of cricketers with LBP who received the stabilization training improved and was similar to that of the cricketers without LBP.


Assuntos
Músculos Abdominais/lesões , Traumatismos em Atletas/reabilitação , Terapia por Exercício , Dor Lombar/reabilitação , Músculo Esquelético/lesões , Esportes , Análise de Variância , Humanos , Imageamento por Ressonância Magnética , Masculino , Contração Muscular/fisiologia , Doenças Musculares/reabilitação , Medição da Dor , Modalidades de Fisioterapia , Medicina Esportiva , Adulto Jovem
14.
Int J Obstet Anesth ; 44: 112-115, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32942216

RESUMO

Peripartum replacement of factor VIII and von Willebrand factor is not usually required in type 1 von Willebrand disease, as the levels of endogenous factors tend to increase to within the normal range as a physiological change of pregnancy. However, there is wide heterogeneity of genotypes and phenotypes associated with type 1 von Willebrand disease. Here, we describe the anesthetic management of a parturient with type 1C von Willebrand disease, a subtype characterized by decreased plasma von Willebrand factor survival.


Assuntos
Analgesia Epidural/métodos , Analgesia Obstétrica/métodos , Fator VIII/administração & dosagem , Complicações Hematológicas na Gravidez/fisiopatologia , Doenças de von Willebrand/fisiopatologia , Fator de von Willebrand/administração & dosagem , Adulto , Combinação de Medicamentos , Feminino , Humanos , Período Periparto , Gravidez
15.
Plants (Basel) ; 9(1)2020 Jan 19.
Artigo em Inglês | MEDLINE | ID: mdl-31963839

RESUMO

In the past, Native Americans of North America had an abundant traditional herbal legacy for treating illnesses, disorders, and wounds. Unfortunately, much of the ethnopharmacological knowledge of North American Indians has been lost due to population destruction and displacement from their native lands by European-based settlers. However, there are some sources of Native American ethnobotany remaining. In this work, we have consulted the ethnobotanical literature for members of the Asteraceae used in Cherokee and other Native American traditional medicines that are native to the southeastern United States. The aerial parts of Eupatorium serotinum, Eurybia macrophylla, Eutrochium purpureum, Polymnia canadensis, Rudbeckia laciniata, Silphium integrifolium, Smallanthus uvedalia, Solidago altissima, and Xanthium strumarium were collected from wild-growing plants in north Alabama. The plants were hydrodistilled to obtain the essential oils and the chemical compositions of the essential oils were determined by gas chromatography-mass spectrometry. The essential oils were tested for in-vitro antifungal activity against Aspergillus niger, Candida albicans, and Cryptococcus neoformans. The essential oil of E. serotinum showed noteworthy activity against C. neoformans with a minimum inhibitory concentration (MIC) value of 78 µg/mL, which can be attributed to the high concentration of cyclocolorenone in the essential oil.

16.
Science ; 252(5008): 926-33, 1991 May 17.
Artigo em Inglês | MEDLINE | ID: mdl-17843226

RESUMO

Recent studies are leading to a better understanding of the formation of the earth's metal core. This new information includes: better knowledge of the physics of metal segregation, improved geochemical data on the abundance of siderophile and chalcophile elements in the silicate part of the earth, and experimental data on the partitioning behavior of siderophile and chalcophile elements. Extensive melting of the earth as a result of giant impacts, accretion, or the presence of a dense blanketing atmosphere is thought to have led to the formation of the core. Collision between a planet-sized body and the earth may have also produced the moon. Near the end of accretion, core formation evidently ceased as upper mantle conditions became oxidizing. The accumulation of the oceans is a consequence of the change to oxidizing conditions.

17.
Science ; 175(4029): 1479-80, 1972 Mar 31.
Artigo em Inglês | MEDLINE | ID: mdl-5013679

RESUMO

The localization of brain succinic semialdehyde dehydrogenase, a specific gamma-aminobutyric acid degradative enzyme, could potentially yield valuable information concerning the function of the enzyme. Application of a new histochemical technique for this enzyme has revealed characteristic patterns of neuronal staining that are contsistent within embryologically and functionally similar nuclei of the brainstem of the rat.


Assuntos
Aminobutiratos/metabolismo , Tronco Encefálico/enzimologia , Oxirredutases/análise , Aldeídos , Animais , Histocitoquímica , Bulbo/enzimologia , Microscopia Eletrônica , Ratos , Succinatos
18.
Science ; 267(5197): 508-12, 1995 Jan 27.
Artigo em Inglês | MEDLINE | ID: mdl-17788786

RESUMO

Measurements of uranium/thorium and samarium/neodymium isotopes and concentrations in a suite of Hawaiian basalts show that uranium/thorium fractionation varies systematically with samarium/neodymium fractionation and major-element composition; these correlations can be understood in terms of simple batch melting models with a garnet-bearing peridotite magma source and melt fractions of 0.25 to 6.5 percent. Midocean ridge basalts shows a systematic but much different relation between uranium/thorium fractionation and samarium/neodymium fractionation, which, although broadly consistent with melting of a garnet-bearing peridotite source, requires a more complex melting model.

19.
Neuron ; 2(1): 1069-76, 1989 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-2483108

RESUMO

Mapping of the human MAOA gene to chromosomal region Xp21-p11 prompted our study of two affected males in a family previously reported to have Norrie disease resulting from a submicroscopic deletion in this chromosomal region. In this investigation we demonstrate in these cousins deletion of the MAOA gene, undetectable levels of MAO-A and MAO-B activities in their fibroblasts and platelets, respectively, loss of mRNA for MAO-A in fibroblasts, and substantial alterations in urinary catecholamine metabolites. The present study documents that a marked deficiency of MAO activity is compatible with life and that genes for MAO-A and MAO-B are near each other in this Xp chromosomal region. Some of the clinical features of these MAO deletion patients may help to identify X-linked MAO deficiency diseases in humans.


Assuntos
Deleção Cromossômica , Monoaminoxidase/deficiência , Aberrações dos Cromossomos Sexuais , Cromossomo X , Adolescente , Adulto , Plaquetas/enzimologia , Northern Blotting , Southern Blotting , Células Cultivadas , Criança , DNA/genética , DNA/isolamento & purificação , Feminino , Fibroblastos/enzimologia , Humanos , Isoenzimas/deficiência , Isoenzimas/genética , Isoenzimas/metabolismo , Masculino , Monoaminoxidase/genética , Monoaminoxidase/metabolismo , Linhagem , RNA/genética , RNA/isolamento & purificação , Valores de Referência , Pele/enzimologia
20.
Clin Genet ; 73(5): 430-40, 2008 May.
Artigo em Inglês | MEDLINE | ID: mdl-18312448

RESUMO

Progressive skeletal disease accounts for some of the most debilitating complications of type 1 Gaucher disease. In this 48-month, prospective, non-randomized, open-label study of the effect of enzyme replacement therapy on bone response, 33 imiglucerase-naïve patients (median age 43 years with one or more skeletal manifestations such as osteopenia, history of bone crisis, or other documented bone pathology) received imiglucerase 60 U/kg/2 weeks. Substantial improvements were observed in bone pain (BP), bone crises (BC), and bone mineral density (BMD). Improvements in BP were observed at 3 months (p < 0.001 vs baseline) and continued progressively throughout the study, with 39% of patients reporting pain at 48 months vs 73% at baseline. Eleven of the 13 patients with a pre-treatment history of BC had no recurrences. Biochemical markers for bone formation increased; markers for bone resorption decreased. Steady improvement of spine and femoral neck BMD, measured using dual-energy X-ray absorptiometry was noted. Mean Z score for spine increased from -0.72 +/- 1.302 at baseline to near-normal levels (-0.09 +/- 1.503) by month 48 (p = 0.042) and for femoral neck from -0.59 +/- 1.352 to -0.17 +/- 1.206 (p = 0.035) at month 36. This increase was sustained at 48 months. With imiglucerase treatment, patients should anticipate resolution of BC, rapid improvement in BP, increases in BMD, and decreased skeletal complications.


Assuntos
Densidade Óssea , Doença de Gaucher/tratamento farmacológico , Glucosilceramidase/uso terapêutico , Coluna Vertebral/metabolismo , Doenças Ósseas , Doenças Ósseas Metabólicas , Estudos de Coortes , Feminino , Humanos , Estudos Longitudinais , Masculino , Estudos Prospectivos
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