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1.
N Engl J Med ; 379(11): 1007-1016, 2018 Sep 13.
Artigo em Inglês | MEDLINE | ID: mdl-30145929

RESUMO

BACKGROUND: Transthyretin amyloid cardiomyopathy is caused by the deposition of transthyretin amyloid fibrils in the myocardium. The deposition occurs when wild-type or variant transthyretin becomes unstable and misfolds. Tafamidis binds to transthyretin, preventing tetramer dissociation and amyloidogenesis. METHODS: In a multicenter, international, double-blind, placebo-controlled, phase 3 trial, we randomly assigned 441 patients with transthyretin amyloid cardiomyopathy in a 2:1:2 ratio to receive 80 mg of tafamidis, 20 mg of tafamidis, or placebo for 30 months. In the primary analysis, we hierarchically assessed all-cause mortality, followed by frequency of cardiovascular-related hospitalizations according to the Finkelstein-Schoenfeld method. Key secondary end points were the change from baseline to month 30 for the 6-minute walk test and the score on the Kansas City Cardiomyopathy Questionnaire-Overall Summary (KCCQ-OS), in which higher scores indicate better health status. RESULTS: In the primary analysis, all-cause mortality and rates of cardiovascular-related hospitalizations were lower among the 264 patients who received tafamidis than among the 177 patients who received placebo (P<0.001). Tafamidis was associated with lower all-cause mortality than placebo (78 of 264 [29.5%] vs. 76 of 177 [42.9%]; hazard ratio, 0.70; 95% confidence interval [CI], 0.51 to 0.96) and a lower rate of cardiovascular-related hospitalizations, with a relative risk ratio of 0.68 (0.48 per year vs. 0.70 per year; 95% CI, 0.56 to 0.81). At month 30, tafamidis was also associated with a lower rate of decline in distance for the 6-minute walk test (P<0.001) and a lower rate of decline in KCCQ-OS score (P<0.001). The incidence and types of adverse events were similar in the two groups. CONCLUSIONS: In patients with transthyretin amyloid cardiomyopathy, tafamidis was associated with reductions in all-cause mortality and cardiovascular-related hospitalizations and reduced the decline in functional capacity and quality of life as compared with placebo. (Funded by Pfizer; ATTR-ACT ClinicalTrials.gov number, NCT01994889 .).


Assuntos
Neuropatias Amiloides Familiares/tratamento farmacológico , Benzoxazóis/uso terapêutico , Cardiomiopatias/tratamento farmacológico , Pré-Albumina/antagonistas & inibidores , Administração Oral , Idoso , Idoso de 80 Anos ou mais , Neuropatias Amiloides Familiares/complicações , Benzoxazóis/efeitos adversos , Cardiomiopatias/complicações , Progressão da Doença , Método Duplo-Cego , Feminino , Insuficiência Cardíaca/etiologia , Insuficiência Cardíaca/mortalidade , Hospitalização/estatística & dados numéricos , Humanos , Masculino , Pessoa de Meia-Idade , Qualidade de Vida , Análise de Sobrevida , Teste de Caminhada
2.
Blood Cells Mol Dis ; 87: 102534, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33401150

RESUMO

Congenital dyserythropoietic anemias (CDAs) are characterized by ineffective erythropoiesis and distinctive erythroblast abnormalities; the diagnosis is often missed or delayed due to significant phenotypic heterogeneity. We established the CDA Registry of North America (CDAR) to study the natural history of CDA and create a biorepository to investigate the pathobiology of this heterogeneous disease. Seven of 47 patients enrolled so far in CDAR have CDA-I due to biallelic CDAN1 mutations. They all presented with perinatal anemia and required transfusions during infancy. Anemia spontaneously improved during infancy in three patients; two became transfusion-independent rapidly after starting interferon-α2; and two remain transfusion-dependent at last follow-up at ages 5 and 30 y.o. One of the transfusion-dependent patients underwent splenectomy at 11 y.o due to misdiagnosis and returned to medical attention at 27 y.o with severe hemolytic anemia and pulmonary hypertension. All patients developed iron overload even without transfusions; four were treated with chelation. Genetic testing allowed for more rapid and accurate diagnosis; the median age of confirmed diagnosis in our cohort was 3 y.o compared to 17.3 y.o historically. In conclusion, CDAR provides an organized research network for multidisciplinary clinical and research collaboration to conduct natural history and biologic studies in CDA.


Assuntos
Anemia Diseritropoética Congênita/diagnóstico , Anemia Diseritropoética Congênita/terapia , Adolescente , Adulto , Anemia Diseritropoética Congênita/epidemiologia , Anemia Diseritropoética Congênita/genética , Transfusão de Sangue , Medula Óssea/patologia , Criança , Pré-Escolar , Feminino , Testes Genéticos , Glicoproteínas/genética , Humanos , Masculino , Mutação , América do Norte/epidemiologia , Proteínas Nucleares/genética , Sistema de Registros , Adulto Jovem
4.
Cancer Rep (Hoboken) ; 5(10): e1670, 2022 10.
Artigo em Inglês | MEDLINE | ID: mdl-36052764

RESUMO

BACKGROUND: Prenatally identified suprarenal masses are most often found to be adrenal hemorrhage. The most common tumor in this situation is neuroblastoma. CASE PRESENTATION: We report the case of a rare adrenocortical tumor found prenatally on ultrasound. While most patients with adrenocortical tumors present with virilizing symptoms, our patient did not have evidence of virilization and was presumed to have neuroblastoma. CONCLUSION: Following a period of observation, our patient underwent surgical resection due to tumor growth revealing the unexpected diagnosis.


Assuntos
Neoplasias do Córtex Suprarrenal , Neuroblastoma , Neoplasias do Córtex Suprarrenal/diagnóstico por imagem , Neoplasias do Córtex Suprarrenal/cirurgia , Feminino , Hemorragia , Humanos , Neuroblastoma/cirurgia , Gravidez
5.
Anat Rec (Hoboken) ; 305(8): 1991-2029, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-34166582

RESUMO

Circum-nasal and nasal cavity morphology add to the picture of the Sima de los Huesos specimens as, at one level, representing a distinct morph and, at another, displaying individual variation. They developed a robust, midline-grooved, three-dimensional spinal ridge lying anteriorly in the nasal cavity floor that was distended posteriorly over the nasal cavity floor, and, typically, an expansive, three-dimensional patch of rugose bone on the nasal cavity wall where a conchal crest would otherwise lie. They vary, for example, in degree of topographic relief of the nasal cavity wall, expression of the spinal ridge, and development of nasal crests and fossae. Lacking an anterior nasal spine, Sima specimens differ from extant and most fossil Homo sapiens, some specimens attributed to H. heidelbergensis, and the Gran Dolina partial face, whose anterior nasal spine is a superoanterior distention of the nasoalveolar clivus, and also from Neanderthals, whose anterior nasal spine projects anteriorly away from the nasoalveolar clivus. Comparison of Neanderthals, the Sima hominin, and specimens regarded as H. heidelbergensis calls for re-evaluating the integrity of "heidelbergensis" and rethinking the phylogenetic relationships of them all. To precisely describe the numerous features and combinations thereof of the nasal region in Sima specimens, and compare them with Neandertals and "H. heidelbergensis", we developed terminology that is applicable not only to hominins, but to mammals in general.


Assuntos
Hominidae , Homem de Neandertal , Animais , Evolução Biológica , Fósseis , Hominidae/anatomia & histologia , Humanos , Mamíferos , Homem de Neandertal/anatomia & histologia , Filogenia , Espanha
6.
Mitochondrial DNA A DNA Mapp Seq Anal ; 32(4): 126-151, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33818247

RESUMO

The tenets underlying the use of mtDNA in phylogenetic and systematic analyses are strict maternal inheritance, clonality, homoplasmy, and difference due to mutation: that is, there are species-specific mtDNA sequences and phylogenetic reconstruction is a matter of comparing these sequences and inferring closeness of relatedness from the degree of sequence similarity. Yet, how mtDNA behavior became so defined is mysterious. Even though early studies of fertilization demonstrated for most animals that not only the head, but the sperm's tail and mitochondria-bearing midpiece penetrate the egg, the opposite - only the head enters the egg - became fact, and mtDNA conceived as maternally transmitted. When midpiece/tail penetration was realized as true, the conceptions 'strict maternal inheritance', etc., and their application to evolutionary endeavors, did not change. Yet there is mounting evidence of paternal mtDNA transmission, paternal and maternal combination, intracellular recombination, and intra- and intercellular heteroplasmy. Clearly, these phenomena impact the systematic and phylogenetic analysis of mtDNA sequences.


Assuntos
DNA Mitocondrial , Evolução Molecular , Genoma Mitocondrial , DNA Mitocondrial/genética , Mitocôndrias , Filogenia
7.
Am J Cardiol ; 141: 98-105, 2021 02 15.
Artigo em Inglês | MEDLINE | ID: mdl-33220323

RESUMO

In the Tafamidis in Transthyretin Cardiomyopathy Clinical Trial, tafamidis significantly reduced all-cause mortality and cardiovascular-related hospitalizations in patients with transthyretin amyloid cardiomyopathy (ATTR-CM). ATTR-CM is associated with a significant burden of disease; further analysis of patient-reported quality of life will provide additional data on the efficacy of tafamidis. In the Tafamidis in Transthyretin Cardiomyopathy Clinical Trial, 441 adult patients with ATTR-CM were randomized (2:1:2) to tafamidis 80 mg, tafamidis 20 mg, or placebo for 30 months, with pooled tafamidis (80 mg and 20 mg) compared with placebo. Change in Kansas City Cardiomyopathy Questionnaire Overall Summary (KCCQ-OS) domain scores, EQ-5D-3L scores, and patient global assessment, were prespecified exploratory end points. A greater proportion of patients improved KCCQ-OS score at month 30 with tafamidis (41.8%) versus placebo (21.4%). Tafamidis significantly reduced the decline in all 4 KCCQ-OS domains (p <0.0001 for all), and in EQ-5D-3L utility (0.09 [confidence interval 0.05 to 0.12]; p <0.0001) and EQ visual analog scale (9.11 [confidence interval 5.39 to 12.83]; p <0.0001) scores at month 30 versus placebo. A larger proportion of tafamidis-treated patients reported their patient global assessment improved at month 30 (42.3% vs 23.8% with placebo). In conclusion, tafamidis effectively reduced the decline in patient-reported outcomes, providing further insight into its efficacy in health-related quality of life in patients with ATTR-CM.


Assuntos
Neuropatias Amiloides Familiares/tratamento farmacológico , Benzoxazóis/uso terapêutico , Cardiomiopatias/tratamento farmacológico , Qualidade de Vida , Atividades Cotidianas , Idoso , Idoso de 80 Anos ou mais , Neuropatias Amiloides Familiares/fisiopatologia , Cardiomiopatias/fisiopatologia , Efeitos Psicossociais da Doença , Feminino , Humanos , Masculino , Medidas de Resultados Relatados pelo Paciente , Autoeficácia , Participação Social
8.
Eur J Heart Fail ; 23(2): 277-285, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33070419

RESUMO

AIMS: Tafamidis is an effective treatment for transthyretin amyloid cardiomyopathy (ATTR-CM) in the Tafamidis in Transthyretin Cardiomyopathy Clinical Trial (ATTR-ACT). While ATTR-ACT was not designed for a dose-specific assessment, further analysis from ATTR-ACT and its long-term extension study (LTE) can guide determination of the optimal dose. METHODS AND RESULTS: In ATTR-ACT, patients were randomized (2:1:2) to tafamidis 80 mg, 20 mg, or placebo for 30 months. Patients completing ATTR-ACT could enrol in the LTE (with placebo-treated patients randomized to tafamidis 80 or 20 mg; 2:1) and all patients were subsequently switched to high-dose tafamidis. All-cause mortality was assessed in ATTR-ACT combined with the LTE (median follow-up 51 months). In ATTR-ACT, the combination of all-cause mortality and cardiovascular-related hospitalizations over 30 months was significantly reduced with tafamidis 80 mg (P = 0.0030) and 20 mg (P = 0.0048) vs. placebo. All-cause mortality vs. placebo was reduced with tafamidis 80 mg [Cox hazards model (95% confidence interval): 0.690 (0.487-0.979), P = 0.0378] and 20 mg [0.715 (0.450-1.137), P = 0.1564]. The mean (standard error) change in N-terminal pro-B-type natriuretic peptide from baseline to Month 30 was -1170.51 (587.31) (P = 0.0468) with tafamidis 80 vs. 20 mg. In ATTR-ACT combined with the LTE there was a significantly greater survival benefit with tafamidis 80 vs. 20 mg [0.700 (0.501-0.979), P = 0.0374]. Incidence of adverse events in both tafamidis doses were comparable to placebo. CONCLUSION: Tafamidis, both 80 and 20 mg, effectively reduced mortality and cardiovascular-related hospitalizations in patients with ATTR-CM. The longer-term survival data and the lack of dose-related safety concerns support tafamidis 80 mg as the optimal dose. CLINICAL TRIAL REGISTRATION: ClinicalTrials.gov NCT01994889; NCT02791230.


Assuntos
Neuropatias Amiloides Familiares , Cardiomiopatias , Insuficiência Cardíaca , Benzoxazóis , Humanos , Pré-Albumina
9.
JACC Heart Fail ; 9(2): 115-123, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33309574

RESUMO

OBJECTIVES: Tafamidis is an effective treatment for transthyretin amyloid cardiomyopathy (ATTR-CM), this study aimed to determine whether there is a differential effect between variant transthyretin amyloidosis (ATTRv) and wild-type transthyretin (ATTRwt). BACKGROUND: ATTR-CM is a progressive, fatal disorder resulting from mutations in the ATTRv or the deposition of denatured ATTRwt. METHODS: In pre-specified analyses from ATTR-ACT (Tafamidis in Transthyretin Cardiomyopathy Clinical Trial), baseline characteristics, all-cause mortality, and change from baseline to month 30 in 6-min walk test distance and Kansas City Cardiomyopathy Questionnaire Overall Summary score were compared in patients with ATTRwt and ATTRv. RESULTS: There were 335 patients with ATTRwt (201 tafamidis, 134 placebo) and 106 with ATTRv (63 tafamidis, 43 placebo) enrolled in ATTR-ACT. Patients with ATTRwt (vs. ATTRv) had less advanced disease at baseline and a lower rate of disease progression over the study. The reduction in all-cause mortality with tafamidis compared with placebo was not different between ATTRwt (hazard ratio: 0.706 [95% confidence interval (CI): 0.474 to 1.052]; p = 0.0875) and ATTRv (hazard ratio: 0.690 [95% CI: 0.408 to 1.167]; p = 0.1667). Tafamidis was associated with a similar reduction (vs. placebo) in the decline in 6-min walk test distance in ATTRwt (mean ± SE difference from placebo, 77.14 ± 10.78; p < 0.0001) and ATTRv (79.61 ± 29.83 m; p = 0.008); and Kansas City Cardiomyopathy Questionnaire Overall Summary score in ATTRwt (12.72 ± 2.10; p < 0.0001) and ATTRv (18.18 ± 7.75; p = 0.019). CONCLUSIONS: Pre-specified analyses from ATTR-ACT confirm the poor prognosis of untreated ATTRv-related cardiomyopathy compared with ATTRwt, but show the reduction in mortality and functional decline with tafamidis treatment is similar in both disease subtypes. (Safety and Efficacy of Tafamidis in Patients With Transthyretin Cardiomyopathy [ATTR-ACT]; NCT01994889).


Assuntos
Cardiomiopatias , Insuficiência Cardíaca , Benzoxazóis/uso terapêutico , Cardiomiopatias/tratamento farmacológico , Cardiomiopatias/genética , Humanos , Pré-Albumina/genética
10.
Am J Phys Anthropol ; 143 Suppl 51: 94-121, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-21086529

RESUMO

Our species Homo sapiens has never received a satisfactory morphological definition. Deriving partly from Linnaeus's exhortation simply to "know thyself," and partly from the insistence by advocates of the Evolutionary Synthesis in the mid-20th Century that species are constantly transforming ephemera that by definition cannot be pinned down by morphology, this unfortunate situation has led to huge uncertainty over which hominid fossils ought to be included in H. sapiens, and even over which of them should be qualified as "archaic" or as "anatomically modern," a debate that is an oddity in the broader context of paleontology. Here, we propose a suite of features that seems to characterize all H. sapiens alive today, and we review the fossil evidence in light of those features, paying particular attention to the bipartite brow and the "chin" as examples of how, given the continuum from developmentally regulated genes to adult morphology, we might consider features preserved in fossil specimens in a comparative analysis that includes extant taxa. We also suggest that this perspective on the origination of novelty, which has gained a substantial foothold in the general field of evolutionary developmental biology, has an intellectual place in paleoanthropology and hominid systematics, including in defining our species, H. sapiens. Beginning solely with the distinctive living species reveals a startling variety in morphologies among late middle and late Pleistocene hominids, none of which can be plausibly attributed to H. sapiens/H. neanderthalensis admixture. Allowing for a slightly greater envelope of variation than exists today, basic "modern" morphology seems to have appeared significantly earlier in time than the first stirrings of the modern symbolic cognitive system.


Assuntos
Fósseis , Hominidae/anatomia & histologia , Animais , Humanos , Crânio
11.
Acta Biotheor ; 57(1-2): 295-305, 2009 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-19350210

RESUMO

I attempt to raise questions regarding elements of systematics--primarily in the realm of phylogenetic reconstruction--in order to provoke discussion on the current state of affairs in this discipline, and also evolutionary biology in general: e.g., conceptions of homology and homoplasy, hypothesis testing, the nature of and objections to Hennigian "phylogenetic systematics", and the schism between (neo)Darwinian descendants of the "modern evolutionary synthesis" and their supposed antagonists, cladists and punctuationalists.


Assuntos
Filogenia , Biologia de Sistemas
12.
Amyloid ; 26(4): 203-209, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31353964

RESUMO

Background: Tafamidis is approved in over 40 countries to delay neurologic progression in patients with transthyretin amyloid polyneuropathy (ATTR-PN). A comprehensive, integrated analysis of safety data from interventional, observational and surveillance studies of tafamidis in ATTR-PN patients was conducted. Methods: Safety data from all sponsored, completed, or ongoing, Phase 2/3 studies of tafamidis in ATTR-PN patients as of 3 January 2017 were pooled. Also assessed were safety data from the ongoing Transthyretin Amyloidosis Outcomes Survey (THAOS) as of 3 January 2017 and post-marketing surveillance reports as of 31 March 2017. Results: There were 137 patients in Phase 2/3 studies (mean duration of tafamidis exposure, 44.2 months), with 134 (97.8%) experiencing ≥1 treatment-emergent adverse event (TEAE) and 46 (33.6%) ≥1 treatment-emergent serious adverse event (TESAE). The most common TEAEs were diarrhoea (26.3%), urinary tract infection (UTI; 25.5%) and influenza (21.2%). In THAOS, 661 subjects had tafamidis exposure (mean duration, 27.6 months), with 250 (37.8%) experiencing ≥1 TEAE and 96 (14.5%) ≥1 TESAE. The most common TEAE was UTI (6.1%). Post-marketing surveillance reports generally reflected the known safety profile of tafamidis. Conclusions: This analysis did not reveal any significant new safety findings; tafamidis was generally safe and well tolerated in ATTR-PN patients. ClinicalTrials.gov: NCT00409175, NCT00791492, NCT00630864, NCT01435655, NCT00925002, and NCT00628745.


Assuntos
Neuropatias Amiloides Familiares/tratamento farmacológico , Benzoxazóis/efeitos adversos , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/etiologia , Polineuropatias/tratamento farmacológico , Adulto , Neuropatias Amiloides Familiares/complicações , Benzoxazóis/administração & dosagem , Benzoxazóis/uso terapêutico , Ensaios Clínicos Fase II como Assunto , Ensaios Clínicos Fase III como Assunto , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Observacionais como Assunto , Polineuropatias/complicações , Vigilância de Produtos Comercializados
13.
Orphanet J Rare Dis ; 13(1): 225, 2018 12 17.
Artigo em Inglês | MEDLINE | ID: mdl-30558645

RESUMO

BACKGROUND: Emerging evidence suggests that several factors can impact disease progression in transthyretin amyloid polyneuropathy (ATTR-PN). The present analysis used longitudinal data from Val30Met patients participating in the tafamidis (selective TTR stabilizer) clinical development program to evaluate the impact of baseline neurologic severity on disease progression in ATTR-PN. METHODS: A linear mixed-effects model for repeated measures (MMRM) was constructed using tafamidis and placebo data from the intent-to-treat Val30Met population of the original registration study as well as tafamidis data from the two consecutive open-label extension studies. The second extension study is ongoing, but a prospectively-planned interim analysis involving a cleaned and locked database was conducted (cut-off: December 31, 2014). Val30Met patients are presented by treatment groups as those who received tafamidis during the registration and open-label studies (T-T group), or who received placebo during the registration study and were switched to tafamidis in the open-label studies (P-T group). Neurologic functioning was assessed at baseline and subsequent visits using the Neuropathy Impairment Score-Lower Limbs (NIS-LL). The analysis focused on the disease trajectory over the first 18 months of treatment. RESULTS: The T-T (n = 64) and P-T (n = 61) cohorts were predominantly Caucasian and presented with early-stage neurologic disease (mean [standard deviation] baseline NIS-LL values were 8.4 [11.4] and 11.4 [13.5], respectively). The MMRM analysis demonstrated that baseline severity is an independent significant predictor of disease progression in addition to the treatment effect: patients with a lower baseline NIS-LL showed less progression than those with a higher baseline NIS-LL (p < 0.0001). Neurologic progression in the T-T group was less than in the P-T group across all levels of baseline NIS-LL (p = 0.0088), and the degree of separation increased over the 18-month period. Similar results were seen with the NIS-LL muscle weakness subscale. CONCLUSIONS: This analysis of patients with Val30Met ATTR-PN demonstrates that neurologic disease progression strongly depends on baseline neurologic severity and illustrates the disease-modifying effect of tafamidis relative to placebo across a range of baseline levels of neurologic severity and treatment durations. These data also underscore the benefit of early diagnosis and treatment with tafamidis in delaying disease progression in ATTR-PN. TRIAL REGISTRATION: NCT00409175 , NCT00791492 and NCT00925002 registered 08 December 2006, 14 November 2008 (retrospectively registered), and 19 June 2009, respectively.


Assuntos
Neuropatias Amiloides/tratamento farmacológico , Neuropatias Amiloides/fisiopatologia , Benzoxazóis/uso terapêutico , Adulto , Neuropatias Amiloides/metabolismo , Amiloidose/tratamento farmacológico , Amiloidose/metabolismo , Progressão da Doença , Método Duplo-Cego , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pré-Albumina/metabolismo , Estudos Prospectivos
14.
Clin Med Insights Cardiol ; 11: 1179546817730322, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28951660

RESUMO

BACKGROUND: Transthyretin cardiomyopathy (TTR-CM) is a progressive, fatal disease caused by the accumulation of misfolded transthyretin (TTR) amyloid fibrils in the heart. Tafamidis is a kinetic stabilizer of TTR that inhibits misfolding and amyloid formation. METHODS: In this post hoc analysis, data from an observational study (Transthyretin Amyloidosis Cardiac Study; n = 29) were compared with an open-label study of tafamidis in patients with TTR-CM (Fx1B-201; n = 35). To ensure comparable baseline disease severity, patients with New York Heart Association (NYHA) functional classification ≥III were excluded in this time-to-mortality analysis. RESULTS: Patients with either wild-type or Val122Ile genotypes treated with tafamidis have a significantly longer time to death compared with untreated patients (P = .0004). Similar results were obtained when limiting the analysis to wild-type patients only, without restricting NYHA functional classification (P = .0262). CONCLUSIONS: These results support earlier conclusions suggesting that tafamidis slows disease progression compared with no treatment outside of standard of care and warrant further investigation. TRIAL REGISTRATION: ClinicalTrials.gov, NCT00694161.

15.
Anat Rec (Hoboken) ; 300(1): 76-151, 2017 01.
Artigo em Inglês | MEDLINE | ID: mdl-28000398

RESUMO

The zygoma, or jugum, is a cranial element that was present in Mesozoic tetrapods, well before the appearance of mammals. Although as an entity the zygoma is a primitive retention among mammals, it has assumed myriad configurations as this group diversified. As the zygoma is located at the intersection of the visual, respiratory, and masticatory apparatuses, it is potentially of great importance in systematic, phylogenetic, and functional studies focused on this region. For example, the facial component of the zygoma and its contribution to a postorbital bar (POB) appear to be relevant to the systematics of a number of mammalian subclades, and the formation of a bony postorbital septum (POS) that separates the orbit from the infratemporal fossa is unique to, and thus potentially phylogenetically significant for uniting anthropoid primates, while the zygoma itself appears to serve to resist tension and bending forces during mastication. In order to better understand the zygoma in the context of its contributions to the circumorbital region, we documented its morphological expression in specimens representing 10 orders of mammals. Since the presence of a POB and of a POS has long been used to justify uniting extant primates and anthropoid primates as respective clades, and because postorbital closure (POC) is morphologically more complex than a POB, we provide detail necessary to address these claims. Our taxically broad overview also allowed us to provide for the first time definitions of configurations that can be applied to future studies. Using a different, but also taxically broad sample of mammals, and of primates in particular, we performed two geometric morphometric analyses that were geared toward testing long-held interpretations of the functional role of the zygoma, especially with regard to mastication and in the context of orbital frontation (to which the zygoma contributes). Further, overall, zygomatic morphology tends not to scale with allometry, sexual dimorphism, or angle of orbital convergence, but it does contribute to unique patterns of intraspecies variation. Anat Rec, 300:76-151, 2017. © 2016 Wiley Periodicals, Inc.


Assuntos
Mamíferos/anatomia & histologia , Filogenia , Crânio/anatomia & histologia , Zigoma/anatomia & histologia , Anatomia Comparada , Animais , Órbita/anatomia & histologia
17.
Anat Rec B New Anat ; 289(6): 225-40, 2006 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-17109420

RESUMO

Although the late 17th century witnessed the recognition of fossils as the remains of extinct organisms-because they could be incorporated into the creation story embodied in the Great Chain of Being-acceptance of human antiquity through the indisputable demonstration of the contemporaneity of human bones, stone tools, and accepted fossils was not forthcoming for nearly 2 centuries thereafter. When it did occur, however, ancient humans were not seen as presenting a pattern of diversity similar to that seen in the fossil records of nonhuman organisms. Instead, human evolution then, as now, has typically been interpreted as being unilinear. This belief can be traced to Huxley (1863), who argued that the Feldhofer Grotto Neanderthal skullcap was merely an extension into the past of morphology seen in the Australian Aborigine, whom he took to represent the primitive end of an extreme range of variation he thought characterized Homo sapiens. During the mid-20th century, Mayr and Dobzhansky (mis)used their clout as founders of the evolutionary synthesis to cement in paleoanthropology the idea that human evolutionary history was characterized by nonspeciation. As such, anything that could be interpreted as potentially representing taxic diversity was relegated to the status of individual variation. Lack of understanding of the history of human paleontology, and the biases that constrained its perspective on human evolution, continue to affect the ways in which most paleoanthropologists pigeonhole human fossils.


Assuntos
Paleontologia/história , Grupos Raciais/história , Animais , Evolução Biológica , Fósseis , História do Século XVII , História do Século XIX , História do Século XX , Hominidae , Humanos
18.
Anat Rec B New Anat ; 289(1): 38-46, 2006 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-16437551

RESUMO

A major theme in Darwinian evolutionary theory is that novelty arises through a process in which organisms and their features are gradually transformed. Morgan provided Darwinism and the evolutionary synthesis with the idea that minor mutations produce the minuscule morphological variations on which natural selection then acts, and that, although mutation is random, once a process of gradual genetic modification begins, it becomes directional and leads to morphological, and consequently organismal, transformation. In contrast, studies on the role of cell membrane physical states in regulating the expression of stress proteins in response to environmental shifts indicate the existence of a downstream mechanism that prevents or corrects genetic change (i.e., maintains "DNA homeostasis"). However, episodic spikes in various kinds of environmental stress that exceed an organism's cells' thresholds for expression of proper amounts of stress proteins responsible for protein folding (including stochastically occurring DNA repair) may increase mutation rate and genetic change, which in turn will alter the pattern of gene expression during development. If severe stress disrupts DNA homeostasis during meiosis (gametogenesis), this could allow for the appearance of significant mutational events that would otherwise be corrected or suppressed. In evolutionary terms, extreme spikes in environmental stress make possible the emergence of new genetic and consequent developmental and epigenetic networks, and thus also the emergence of potentially new morphological traits, without invoking geographic or other isolating mechanisms.


Assuntos
Evolução Biológica , DNA/genética , Exposição Ambiental , Regulação da Expressão Gênica no Desenvolvimento , Proteínas de Choque Térmico/fisiologia , Estresse Oxidativo , Animais , DNA/metabolismo , Humanos , Metilação , Mutação , Fatores de Transcrição/genética
19.
Coll Antropol ; 28 Suppl 2: 87-101, 2004.
Artigo em Inglês | MEDLINE | ID: mdl-15571084

RESUMO

With the shift during the 1980s from a human-great ape ultimately to an orangutan-(gorilla-(human-chimp)) theory of relatedness, the search for chimpanzee-like features in early hominids intensified. Reconstructions of early hominids became caricatures of chimpanzees, not only in soft tissue features (e.g. the nasal region), but in supposed bony structures (e.g. an anteriorly and especially superiorly protruding a supraorbital torus with a distinct posttoral sulcus behind). In spite of rampant >>Panophilia,<< actual morphologies of the majority of early hominid specimens are those cited as uniting an orangutan clade. Those specimens that are >>chimpanzee-like<< are probably not cladistically hominid.


Assuntos
Fósseis , Hominidae/anatomia & histologia , Hominidae/classificação , Pan troglodytes/anatomia & histologia , Pongo pygmaeus/anatomia & histologia , África , Animais , Evolução Biológica , Crânio/anatomia & histologia , Dente/anatomia & histologia
20.
Nat Ecol Evol ; 3(9): 1269-1270, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31383949
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