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The U.S. Air Force asked RAND Project AIR FORCE (PAF) to help assess the well-being of its wounded members and the quality of services provided to facilitate their recovery and reintegration. RAND PAF fielded a survey in the fall of 2016 to assess wounded airmen's functioning in the domains of physical health, mental health, interpersonal relationships, unemployment, and financial status, as well as their utilization and perceptions of Air Force nonmedical programs for wounded airmen. The authors of this study invited all 713 wounded airmen enrolled in the Air Force Wounded Warrior program to complete the survey, and 270 airmen (38 percent) completed it. One-third of airmen reported difficulty obtaining care for physical or mental health conditions, and one-quarter expressed dissatisfaction with coordination of care. Similar proportions of airmen reported barriers to care for physical and mental health conditions. Difficulty scheduling appointments was the most commonly endorsed barrier for both types of conditions. Small but notable proportions of airmen reported potential social support deficits, unemployment, and financial problems. For many of the Air Force's programs for wounded airmen, over 80 percent of program users reported overall program satisfaction. The authors recommend that the Air Force consider focusing on improving care coordination, increasing health care system capacity, continuing employment assistance, and improving marketing of programs with low uptake.
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The U.S. Army has a vested interest in retaining the skilled personnel necessary to achieve its mission and strategic goals. A wealth of research has investigated the retention process and what influences service member decisions to stay in the military. While families are an important influence on soldier retention decisions, research on the mechanism by which this happens is lacking. This report explores the relationship between spouse attitudes and perceptions, resource use, and soldier retention almost two years later, using a proposed theoretical model. Our results generally support our model, with the important change that resource use and unmet needs and stress were not directly associated with specific attitudes toward staying in the military as we had expected. Instead, the association was accounted for by relationship with general attitudes toward the military. Spouses whose needs were unmet after seeking help from available resources experienced greater stress, and spouse unmet needs and reports of greater stress were associated with worse general attitudes toward the military; worse general attitudes toward the military were associated with less inclination to stay a military family; which in turn predicted soldier turnover almost two years later. As the research in this report shows, providing benefits to military spouses is also associated with a tangible and important outcome for the military: improved service member retention.
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To ensure its service members have the requisite physical fitness to serve, the Department of the Air Force (DAF) has established a variety of medical and physical standards. The DAF also recognizes that building a more comprehensive understanding of how different factors influence exercise habits, test preparation, and the perceived importance of fitness is critical to promoting a ready and deployable force. The authors evaluate Air Force (AF) data relevant to the Tier 1 fitness assessment (FA) from all AF-FAs completed by active duty officers and enlisted personnel from fiscal year (FY) 2005 to FY 2018 to examine the fitness of the AF's active component. The Tier 1 FA consists of four components: a 1.5-mile run or 2.0-kilometer walk, designed to measure cardiorespiratory fitness; an abdominal circumference (AC) measurement for body composition; and push-ups and sit-ups, which assess muscular fitness. In this study, the authors explore the relationships between component fitness scores with career and health outcomes and examine airmen's perceptions of current fitness policies and the culture of fitness across the DAF. They conclude by recommending several strategies to improve the rationale for and the validity and acceptance of the AF-FA.
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PURPOSE: First-generation somatostatin analogs, octreotide (OCT) and lanreotide, are the cornerstone for the medical treatment of growth hormone (GH)-secreting pituitary tumors. A new multireceptor analog, such as pasireotide (PAS), showed better activity than OCT in long-term treatment of patients with acromegaly, but modulation of intracellular key processes is still unclear in vitro. In this study, we evaluated the antitumor activity of OCT and PAS in two GH-secreting pituitary tumor cell lines, GH3 and GH4C1, after a long-term incubation. METHODS: The effects of PAS and OCT on the cell viability, cell cycle, apoptosis, GH secretion, and tumor-induced angiogenesis have been evaluated through a colorimetric method (MTS Assay), DNA flow cytometry with propidium iodide, and Annexin V-FITC/propidium iodide staining, ELISA assay and zebrafish platform, respectively. RESULTS: PAS showed a more potent antitumor activity compared to OCT in GH3 cell line exerted through inhibition of cell viability, perturbation of cell cycle progression, and induction of apoptosis after 6 days of incubation. A concomitant decrease in GH secretion has been observed after 2 days of incubation only with PAS. No effect on tumor-induced angiogenesis has been reported after treatment with OCT or PAS in zebrafish/tumor xenograft model. CONCLUSION: Long-term incubation with PAS showed a more potent antitumor activity than that reported after OCT in GH3 cells, mainly modulated by a cell cycle perturbation and a relevant induction in apoptosis.
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Adenoma/patologia , Adenoma Hipofisário Secretor de Hormônio do Crescimento/patologia , Octreotida/farmacologia , Somatostatina/análogos & derivados , Animais , Animais Geneticamente Modificados , Apoptose/efeitos dos fármacos , Embrião não Mamífero , Peptídeos Cíclicos , Ratos , Somatostatina/farmacologia , Somatotrofos/efeitos dos fármacos , Somatotrofos/metabolismo , Somatotrofos/patologia , Fatores de Tempo , Células Tumorais Cultivadas , Peixe-Zebra/embriologiaRESUMO
We uncovered a role for nucleoli and PML-bodies as phase-separated protein quality control organelles that compartmentalize protein quality control factors and misfolded proteins for their efficient clearance. Failure to dispose misfolded proteins converts nucleoli and PML-bodies into a solid state that immobilizes ubiquitin, limiting its recycling for genome integrity maintenance.
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The RAND Arroyo Center conducted a 2014 formal needs assessment survey of active component soldiers at 40 installations. The original study described a broad landscape of needs in such areas as quality of life support services provided to help families cope with a variety of challenges. In this study, new analysis of those survey data explores differences at the garrison level and includes additional focus group data. The analysis suggests that resources providing one-on-one, personalized help should be given priority and it is possible that emphasizing trust between soldiers and their leaders could help fulfill this need. Providing easily accessible information online and staffing services that provide information to soldiers and their families should also be continuing priorities. In intergovernmental support agreements and other community partnership activities, Army garrisons should consider focusing more on partnerships that help meet the needs of soldiers and their families. The Army might consider a series of solutions to achieve the right balance between fostering resilience and helping its soldiers solve problems early. One solution is to expose noncommissioned officers and other soldiers earlier and more frequently in their careers to information regarding what resources are available. Another solution is to set priorities at the aggregate Army level, rather than leaving lower levels to determine how to prioritize the many requirements that are passed down. Finally, the Army should consider strengthening the "no wrong door" policy at Army Community Service and broadening the policy to help soldiers and families navigate resources.
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The Air Force uses the Strength Aptitude Test (SAT) to determine whether recruits meet the fitness levels needed to perform the duties of various Air Force specialties with physical strength requirements. However, the SAT was developed in the early 1980s and has not been revalidated since then. In the interim, the duties associated with many Air Force Specialty Code classifications may have changed, and new ones have been added. These changes require a reevaluation of the SAT's utility and effectiveness for qualifying recruits into these specialties. This study evaluates the status and validity of the SAT in a series of studies and summarizes the studies RAND has completed independently and one study conducted in conjunction with HumRRO, which provided the additional data necessary to develop some courses of action for the Air Force to follow to ensure airmen can meet job-related physical requirements.
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Military occupations can be physically demanding, yet few attempts have been made to determine the physical readiness of today's airmen to perform their jobs. Although the Air Force conducts fitness testing of all its airmen, these tests and standards are not based on validated job requirements. As part of a broader Air Force effort to measure the physical readiness of airmen to perform their jobs, this study describes a methodology for establishing physical fitness standards for four physically demanding Air Force occupational specialties-combat controller, pararescue, special operations weather team, and tactical air control party. Airmen in these specialties are collectively known as battlefield airmen. The authors sought to identify the physically demanding tasks required of battlefield airmen and ways in which fitness standards might be established to ensure that individuals in these specialties are able to perform these tasks. They reviewed the research literature and relevant military documents, conducted focus groups and interviews with battlefield airmen and other subject matter experts, and analyzed the movement patterns and physical abilities associated with each task. They found a high demand across the four specialities for strength and muscular and cardiovascular endurance, followed by agility, anaerobic power, and equilibrium, whereas they found flexibility to be less critically important. The authors recommend that a validation study be conducted next, to (a) ensure that tests measure important physical abilities required for successful mission or job performance, (b) ensure that performance on tests is a good indicator of mission or job performance, and
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The Posttraumatic Stress Disorder (PTSD) Checklist (PCL) is commonly used to screen for PTSD in clinical and research contexts. While the PCL is utilized within numerous settings and populations, research has not yet established the extent to which individuals respond similarly across different modes of administration. The use of both telephone and web survey administration modes has numerous potential benefits, including data quality improvement, but may introduce an additional source of measurement error. The current study examined the psychometric properties, including factor structure and measurement invariance, of the PCL across telephone and web administration modes among 455 wounded, ill, or injured airmen who were medically retired or undergoing evaluation for disability caused by injuries and illnesses of a physical or psychological nature. Findings suggest the properties of the PCL were invariant with regard to the mode of administration, such that the overall scale structure and size of the loadings were similar across groups. Corrections were applied to the computation of probable PTSD diagnosis to account for partial scalar invariance. The lack of complete invariance did not affect probable PTSD diagnosis. Finally, differences in latent means across the telephone and web group were nonsignificant and modest in magnitude. These results indicate that although the PCL only achieved partial scalar invariance across administration modes, the practical impact of this difference on rates of probable PTSD is negligible. The practical benefits of administering the PCL over the telephone and on the web do not appear to be outweighed by the potential cost of additional measurement error. (PsycINFO Database Record
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Lista de Checagem/métodos , Internet , Militares/psicologia , Transtornos de Estresse Pós-Traumáticos/diagnóstico , Telefone , Adulto , Análise Fatorial , Feminino , Humanos , Masculino , Psicometria , Reprodutibilidade dos Testes , Transtornos de Estresse Pós-Traumáticos/psicologiaRESUMO
Over the last years the zebrafish imposed itself as a powerful model to study skeletal diseases, but a limit to its use is the poor characterization of collagen type I, the most abundant protein in bone and skin. In tetrapods collagen type I is a trimer mainly composed of two α1 chains and one α2 chain, encoded by COL1A1 and COL1A2 genes, respectively. In contrast, in zebrafish three type I collagen genes exist, col1a1a, col1a1b and col1a2 coding for α1(I), α3(I) and α2(I) chains. During embryonic and larval development the three collagen type I genes showed a similar spatio-temporal expression pattern, indicating their co-regulation and interdependence at these stages. In both embryonic and adult tissues, the presence of the three α(I) chains was demonstrated, although in embryos α1(I) was present in two distinct glycosylated states, suggesting a developmental-specific collagen composition. Even though in adult bone, skin and scales equal amounts of α1(I), α3(I) and α2(I) chains are present, the presented data suggest a tissue-specific stoichiometry and/or post-translational modification status for collagen type I. In conclusion, this data will be useful to properly interpret results and insights gained from zebrafish models of skeletal diseases.
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Desenvolvimento Ósseo/genética , Colágeno Tipo I/genética , Colágeno/genética , Proteínas de Peixe-Zebra/genética , Peixe-Zebra/genética , Sequência de Aminoácidos , Animais , Colágeno/biossíntese , Colágeno Tipo I/biossíntese , Regulação da Expressão Gênica no Desenvolvimento , Processamento de Proteína Pós-Traducional , Pele/crescimento & desenvolvimento , Pele/metabolismo , Peixe-Zebra/crescimento & desenvolvimento , Proteínas de Peixe-Zebra/biossínteseRESUMO
The U.S. Air Force, wanting to gain greater insight into the well-being of its members who have sustained mental or physical injuries in combat or combat-related situations, including their quality of life and the challenges they will confront in their reintegration following separation or retirement, asked the RAND Corporation for assistance in gauging the current status of the Air Force's wounded warriors, including their use of and satisfaction with Air Force programs designed to serve them. This article presents the baseline findings from a longitudinal analysis of enrollees in the Air Force Wounded Warrior (AFW2) program who were receiving benefits or undergoing evaluation to receive benefits, the majority of whom had a primary administrative diagnosis of post-traumatic stress disorder (PTSD). A high proportion of the Airmen in the sample screened positive for PTSD (roughly 78 percent) and major depressive disorder (MDD) (roughly 75 percent); 69 percent screened positive for both. Although more than 90 percent of those in the sample who screened positive for PTSD or MDD were receiving treatment, about half indicated that there was at least one instance during the past year in which they desired mental health treatment but did not receive it. Participants reported concerns about stigma, confidentiality, and the quality of available treatment as barriers to receiving mental health care, though the current data do not link these concerns to a particular treatment setting. About 10 percent of Airmen reported a financial situation that could be considered as living in poverty based on U.S. Department of Health and Human Services' poverty guidelines. Similarly, close to 15 percent of those in the labor force could be considered unemployed. Reserve and National Guard Airmen evidenced heightened challenges across examined domains. Respondents were overall satisfied with the services they received from the AFW2 and Air Force Recovery Care Coordinator programs.
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Stress granules (SGs) are mRNA-protein aggregates induced during stress, which accumulate in many neurodegenerative diseases. Previously, the autophagy-lysosome pathway and valosin-containing protein (VCP), key players of the protein quality control (PQC), were shown to regulate SG degradation. This is consistent with the idea that PQC may survey and/or assist SG dynamics. However, despite these observations, it is currently unknown whether the PQC actively participates in SG assembly. Here, we describe that inhibition of autophagy, lysosomes and VCP causes defective SG formation after induction. Silencing the VCP co-factors UFD1L and PLAA, which degrade defective ribosomal products (DRIPs) and 60S ribosomes, also impaired SG assembly. Intriguingly, DRIPs and 60S, which are released from disassembling polysomes and are normally excluded from SGs, were significantly retained within SGs in cells with impaired autophagy, lysosome or VCP function. Our results suggest that deregulated autophagy, lysosomal or VCP activities, which occur in several neurodegenerative (VCP-associated) diseases, may alter SG morphology and composition.
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Adenosina Trifosfatases/fisiologia , Autofagia , Proteínas de Ciclo Celular/fisiologia , Grânulos Citoplasmáticos/metabolismo , Lisossomos/enzimologia , Técnicas de Silenciamento de Genes , Células HeLa , Humanos , Proteínas Ribossômicas/metabolismo , Proteína com ValosinaRESUMO
Military caregivers are an essential part of our nation's ability to care for returning wounded warriors. Far too often, their own needs are neglected. The RAND Corporation and the Elizabeth Dole Foundation collaborated on a first, exploratory phase of a larger research effort regarding this demographic and its needs. The research explores what is known about the number and characteristics of military caregivers, describes the roles and functions they perform, and highlights the effect of caregiving on their own well-being. Most existing literature on family caregivers is heavily focused on an older population caring for persons with chronic conditions or dementia. By comparison, research on military caregivers is scant, and there are notable differences that make this population unique: Military caregivers are spouses with young children, parents with full- and part-time jobs, and sometimes even young children helping shoulder some of the burden. Government services available to this population are in their infancy; community service organizations offer diverse services but they are generally uncoordinated. This article lays the groundwork to inform policy and program development relative to the unique needs of military caregivers.
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AIMS: HSPB8 is a small heat shock protein that forms a complex with the co-chaperone BAG3. Overexpression of the HSPB8-BAG3 complex in cells stimulates autophagy and facilitates the clearance of mutated aggregation-prone proteins, whose accumulation is a hallmark of many neurodegenerative disorders. HSPB8-BAG3 could thus play a protective role in protein aggregation diseases and might be specifically upregulated in response to aggregate-prone protein-mediated toxicity. Here we analysed HSPB8-BAG3 expression levels in post-mortem human brain tissue from patients suffering of the following protein conformation disorders: Alzheimer's disease, Parkinson's disease, Huntington's disease and spinocerebellar ataxia type 3 (SCA3). METHODS: Western blotting and immunohistochemistry techniques were used to analyse HSPB8 and BAG3 expression levels in fibroblasts from SCA3 patients and post-mortem brain tissues, respectively. RESULTS: In all diseases investigated, we observed a strong upregulation of HSPB8 and a moderate upregulation of BAG3 specifically in astrocytes in the cerebral areas affected by neuronal damage and degeneration. Intriguingly, no significant change in the HSPB8-BAG3 expression levels was observed within neurones, irrespective of their localization or of the presence of proteinaceous aggregates. CONCLUSIONS: We propose that the upregulation of HSPB8 and BAG3 may enhance the ability of astrocytes to clear aggregated proteins released from neurones and cellular debris, maintain the local tissue homeostasis and/or participate in the cytoskeletal remodelling that astrocytes undergo during astrogliosis.
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Proteínas Adaptadoras de Transdução de Sinal/biossíntese , Astrócitos/metabolismo , Proteínas de Choque Térmico/biossíntese , Doenças Neurodegenerativas/metabolismo , Proteínas Serina-Treonina Quinases/biossíntese , Proteínas Reguladoras de Apoptose , Western Blotting , Imunofluorescência , Humanos , Imuno-Histoquímica , Chaperonas Moleculares , Regulação para CimaRESUMO
Sexual harassment has consistently negative consequences for working women, including changes in job attitudes (e.g., lower satisfaction) and behaviors (e.g., increased work withdrawal). Cross-sectional evidence suggests that harassment influences turnover intentions. However, few studies have used actual turnover; rather, they rely on proxies. With a sample of 11,521 military servicewomen with turnover data spanning approximately 4 years, the authors used the appropriate method for longitudinal turnover data--Cox's regression--to investigate the impact of harassment on actual turnover. Experiences of harassment led to increased turnover, even after controlling for job satisfaction, organizational commitment, and marital status. Among officers, harassment also affected turnover over and above rank. Given turnover's relevance to organizational bottom lines, these findings have important implications not only for individual women but also for organizations.
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Militares/estatística & dados numéricos , Modelos Psicológicos , Reorganização de Recursos Humanos/estatística & dados numéricos , Assédio Sexual/estatística & dados numéricos , Absenteísmo , Adulto , Coleta de Dados , Avaliação de Desempenho Profissional , Feminino , Humanos , Satisfação no Emprego , Estudos Longitudinais , Militares/psicologia , Motivação , Modelos de Riscos Proporcionais , Assédio Sexual/psicologia , Fatores de TempoRESUMO
Manganese superoxide dismutase (MnSOD) is essential in protecting mitochondria against the damaging effects of superoxide radicals (O(2)(*-)), and increased expression of MnSOD protects cells and transgenic animals from various forms of oxidative stress. In addition, increased levels of MnSOD have been shown to slow down cell growth and induce differentiation. To study the effects of high MnSOD levels in vivo, we generated a series of transgenic mice using a mouse genomic sequence under control of the endogenous promoter. Four transgenic lines produced by pronuclear DNA injection exhibited up to 2-fold elevated MnSOD levels in brain and heart. However, using an embryonic stem cell approach, a line having 10-fold elevated MnSOD levels in the brain and 6- to 7-fold elevated levels in the heart and kidney was generated. Surprisingly, the genetic background of this transgenic line influenced the expression level of the transgene, with DBA/2 (D2) and C57BL/6 (B6) mice exhibiting low- and high-level transgene expression, respectively. This difference was the result of an increased transcription rate of the transgene. High-level MnSOD expression in B6 animals was associated with small size, male infertility, and decreased female fertility. These features are absent on the D2 background and indicate that high levels of MnSOD activity may interfere with normal growth and fertility.
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Retardo do Crescimento Fetal/genética , Infertilidade/genética , Superóxido Dismutase/genética , Transcrição Gênica/genética , Transgenes/genética , Regulação para Cima/genética , Animais , Células da Medula Óssea/metabolismo , Encéfalo/metabolismo , Catalase/metabolismo , Feminino , Fibroblastos/metabolismo , Glutationa Redutase/metabolismo , Infertilidade/patologia , Células Intersticiais do Testículo/patologia , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Endogâmicos DBA , Camundongos Transgênicos , Miocárdio/metabolismo , Especificidade da Espécie , Superóxido Dismutase/metabolismo , Transferência Intratubária do Zigoto/métodosRESUMO
Exhaled nitric oxide (ENO) has been proposed as a marker of airway inflammation in asthma and could be useful to evaluate the response to anti-inflammatory treatment. We investigated the effect of budesonide and nedocromil sodium on ENO levels and lung function in asthmatic children. Twenty stable steroid-naïve asthmatic children were randomized in a single blind, cross-over study to receive inhaled budesonide (group A) or nedocromil sodium (group B) for 6 weeks. ENO was measured with a chemiluminescence analyser at baseline and at the end of each treatment period. Repeated-measures ANOVA was carried out. In asthmatic baseline ENO levels [mean 32.5 ppb, 95% confidence interval (CI) 26.4 to 38.7] were significantly higher compared to reference values (8.7 ppb, 95% CI 8.1 to 9.2, P<0.001). There were no treatment-order effect, no carry-over effect and in both groups the response pattern was the same: budesonide significantly lowered ENO levels from 41.0 ppb to 22.8 ppb in group A (mean, P<0.01) and from 22.6 ppb to 13.0 ppb in group B, (mean, P<0.05), while nedocromil did not reduce ENO values (from 24.4 ppb to 22.6 ppb in group B and from 22.8 ppb to 38.0 ppb in group A, mean, P = NS and P<0.01 respectively). After budesonide treatment ENO values of asthmatics were still significantly higher than in healthy children The baseline values of FEV1 and FEF(25-75) were normal in both groups and no significant changes were observed during the study. In conclusion, our study shows that budesonide, but not nedocromil sodium, significantly reduces ENO levels in stable asthmatic children even in absence of changes in the lung function.
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Antiasmáticos/uso terapêutico , Asma/tratamento farmacológico , Budesonida/uso terapêutico , Nedocromil/uso terapêutico , Óxido Nítrico/análise , Adolescente , Análise de Variância , Asma/metabolismo , Biomarcadores/análise , Testes Respiratórios , Criança , Pré-Escolar , Estudos Cross-Over , Feminino , Volume Expiratório Forçado/efeitos dos fármacos , Humanos , Medições Luminescentes , Masculino , Fluxo Máximo Médio Expiratório/efeitos dos fármacos , Método Simples-CegoRESUMO
BACKGROUND: A disturbance in glutamate neurotransmission has been hypothesized in schizophrenia. Hence, the beneficial effects of pharmacological treatment may be related to adaptive changes taking place in this neurotransmitter system. METHODS: In this study, we investigated the modulation of ionotropic and metabotropic glutamate receptors in the rat brain following acute or chronic exposure to the novel antipsychotic olanzapine. RESULTS: In accordance with the clear distinction between classical and atypical drugs, olanzapine did not alter glutamate receptor expression in striatum. Chronic, not acute, exposure to olanzapine was capable of up-regulating hippocampal mRNA levels for GluR-B and GluR-C, two alpha-amino-3-hydroxy-5-methyl-4-isoxazole proprionic acid (AMPA)-forming subunits. This effect could be relevant for the improvement of schizophrenic alterations, which are thought to depend on dysfunction of the glutamatergic transmission within the hippocampal formation. We also found that the expression of group II glutamate metabotropic receptors was up-regulated in the frontal cortex after chronic exposure to clozapine, and to a lesser extent olanzapine, but not with haloperidol. CONCLUSIONS: The adaptive mechanisms taking place in glutamatergic transmission might prove useful in ameliorating some of the dysfunction observed in the brain of schizophrenic patients.
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Antipsicóticos/farmacologia , Pirenzepina/análogos & derivados , Pirenzepina/farmacologia , Receptores de Glutamato/efeitos dos fármacos , Animais , Antipsicóticos/administração & dosagem , Benzodiazepinas , Lobo Frontal/efeitos dos fármacos , Lobo Frontal/metabolismo , Hipocampo/efeitos dos fármacos , Hipocampo/metabolismo , Masculino , Olanzapina , Pirenzepina/administração & dosagem , RNA Mensageiro/metabolismo , Ratos , Ratos Sprague-Dawley , Receptores de AMPA/efeitos dos fármacos , Receptores de AMPA/metabolismo , Receptores de Glutamato/metabolismo , Receptores de Glutamato Metabotrópico/efeitos dos fármacos , Receptores de Glutamato Metabotrópico/metabolismo , Receptores de N-Metil-D-Aspartato/efeitos dos fármacos , Receptores de N-Metil-D-Aspartato/metabolismoRESUMO
We report a case of spinal clear-cell meningioma occurring in a 22-month-old male who presented a right limp and then refused to walk. Spinal magnetic resonance imaging demonstrated a large, intradural tumor from T(11) to L(4), which was totally excised. The patient's postoperative recovery was uneventful and 5 months after surgery he began walking again. The latest follow-up magnetic resonance imaging of the brain and spine, obtained 42 months after diagnosis, was negative for tumor recurrence. Though clear-cell meningioma is a rare form of meningioma, it should be considered in the differential diagnosis of any space-occupying lesion of the spine arising in very young children. Complete surgical removal is necessary because it is potentially aggressive and may recur. After surgery, an accurate follow-up is warranted.
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Neoplasias Meníngeas/cirurgia , Meningioma/cirurgia , Humanos , Lactente , Masculino , Neoplasias Meníngeas/patologia , Meningioma/patologia , Medula Espinal/patologia , Medula Espinal/cirurgiaRESUMO
Marfan syndrome is an autosomal dominant disorder affecting the skeletal, ocular, and cardiovascular systems. Defects in the gene that encodes fibrillin-1 (FBN1), the main structural component of the elastin-associated microfibrils, are responsible for the disorder. Molecular diagnosis in families with Marfan syndrome can be undertaken by using intragenic FBN1 gene markers to identify and track the disease allele. However, in sporadic cases, which constitute up to 30% of the total, DNA-based diagnosis cannot be performed using linked markers but rather requires the identification of the specific FBN1 gene mutation. Due to the size and complexity of the FBN1 gene, identification of a causative Marfan syndrome mutation is not a trivial undertaking. Herein, we describe a comprehensive approach to the molecular diagnosis of Marfan syndrome that relies on the direct analysis of the FBN1 gene at the cDNA level and detects both coding sequence mutations and those leading to exon-skipping, which are often missed by analysis at the genomic DNA level. The ability to consistently determine the specific FBN1 gene mutation responsible for a particular case of Marfan syndrome allows both prenatal and pre-implantation diagnosis, even in sporadic instances of the disease.