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1.
Am J Phys Anthropol ; 171(4): 613-627, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-31930491

RESUMO

OBJECTIVE: A distinctive feature of the modern human foot is the presence of a medial longitudinal arch when weight-bearing. Although the talus and calcaneus play a major role in the structure and function of the human foot, the association between the morphology of these bones and longitudinal arch height has not been fully investigated. A better understanding of this relationship may assist in the interpretation of pedal remains of fossil hominins, where features of the foot and ankle morphology have been described as providing evidence for the presence of a longitudinal arch. METHODS: For this study, weight-bearing radiographs of 103 patients from an urban US Level 1 trauma center, taken as part of a clinical examination for medical evaluation, were selected. These radiographs were classified as to foot type by arch height as defined using the calcaneal inclination angle. From this group, 68 radiographs were suitable for linear and angular measurements of the talus and 74 of the calcaneus. The relationships between these measurements and arch height were explored using least squared linear regression analysis. RESULTS: The results demonstrate that angular measurements of the calcaneus (particularly those that reflect the relationship of the talar articular facets to each other and the tilt of the calcaneocuboid joint to the longitudinal axis of the calcaneus) are predictive of arch height (r2 = .29-.44 p ≤ .001). All angular measurements of the talus and all examined linear measurements of both the talus and calcaneus were not predictive of arch height. DISCUSSION: These results suggest that certain angular measurements of the calcaneus are associated with arch height in the modern human foot. While this information is useful in the interpretation of hominin pedal remains, the relationship of the morphology of these bones, as well as other bones of the foot, to arch height is complex, requiring further investigation.


Assuntos
Calcâneo/diagnóstico por imagem , Pé Chato/diagnóstico por imagem , Tálus/diagnóstico por imagem , Adulto , Pé Chato/classificação , Pé Chato/patologia , Humanos , Pessoa de Meia-Idade , Radiografia
2.
Am J Phys Anthropol ; 171(2): 354-360, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31713864

RESUMO

OBJECTIVES: Finite element analysis has gained popularity in anthropological research to connect morphological form to measurable function but requires that loads are applied at appropriate anatomical locations. This is challenging for the ankle because the joint surfaces are not easily determined given their deep anatomical location. While the location of the talonavicular and subtalar joints can be directly determined via medical imaging, regression equations are a common, less invasive method to estimate joint locations from surface anatomy. We propose a regression-based method to locate the in vivo positions of the talonavicular and subtalar joints employing three-dimensional (3D) surface markers, such as those used routinely in gait studies. METHODS: Navicular height was measured on weight-bearing radiographs (WBR) and simulated weight-bearing computed tomography (SWCT) scans to ensure SWCT correctly simulated foot weight-bearing configuration. The location of external foot markers and internal locations of the talonavicular and posterior subtalar joint were measured on each SWCT. Stepwise regression analysis was used to select the external markers that best predicted the three internal locations. RESULTS: Navicular heights measured on WBR and SWCT scans were not statistically different (p = .44), indicating that SWCTs recreate the weight-bearing position of the foot. The navicular tubercle and medial and lateral malleoli were the best predictors of subtalar and talonavicular joint locations. These palpable anatomical locations explained more variation in internal joint location (r2 > .79; SEE < 3.0 mm) than other landmarks. DISCUSSION: This study demonstrates that external palpable landmarks can predict the location of the talonavicular and subtalar joints.


Assuntos
Tálus/anatomia & histologia , Articulações Tarsianas/anatomia & histologia , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Washington , Adulto Jovem
3.
N C Med J ; 81(4): 221-227, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32641453

RESUMO

BACKGROUND After a hospital stay, many older adults rely on their caregivers for assistance at home. Empirical evidence demonstrates that caregiver support programs in hospital-to-home transitions are associated with favorable caregiver and patient outcomes. We tested the feasibility of implementing the Duke Elder Family/Caregiver Training (DEFT) program in an academic medical center.METHODS: We recruited adult caregivers of homebound patients who were aged 55 years or older from Duke University Hospital in Durham, North Carolina. Caregivers attended a face-to-face caregiver training and received two telephone checks after hospital discharge with DEFT services ending at 14 days of hospital discharge. We used a one-item survey to measure overall DEFT satisfaction. We also monitored 30-day readmissions of patients whose caregivers completed the DEFT program.RESULTS: The DEFT Center received 104 consult orders in six months. Of these, 61 agreed to participate but nine caregivers were unable to schedule the DEFT training and three decided to eventually withdraw from participation. Forty-nine caregivers received the DEFT training, 12 of whom were ineligible to continue because of change in patients' disposition plan. Of the remaining 37 caregivers, 15 completed the full program and reported high satisfaction; one patient was readmitted within 30 days of discharge.LIMITATIONS: The DEFT implementation was based on academic-medical partnership and relied on electronic medical records for consult and documentation. Replicability and generalizability of findings are limited to settings with similar capabilities and resources.CONCLUSION: The implementation of a caregiver training and support program in an academic medical center was feasible and was associated with favorable preliminary outcomes.


Assuntos
Centros Médicos Acadêmicos/organização & administração , Cuidadores/educação , Relações Interinstitucionais , Apoio Social , Idoso , Estudos de Viabilidade , Humanos , Pessoa de Meia-Idade , North Carolina , Avaliação de Programas e Projetos de Saúde
4.
Am J Hum Biol ; 29(1)2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-27562693

RESUMO

OBJECTIVES: The objective is to understand the walking energy expenditure of women in urban environments (i.e., over-ground), using mass, velocity, gradient (incline and decline), and burden as predictors. In addition, we use an equation to determine the gradient associated with the minimum energy expenditure of walking. METHODS: To do this, we assessed the volumetric consumption of oxygen (VO2 ) of ten females (ages: 22-40 years) with a portable Cosmed K4b2 device. Participants walked at three self-selected, over-ground velocities (slow, normal, and fast) on five gradients (0%, +/-7.5%, +/- 12.4%) in different urban community settings burdened (10 kg) and unburdened. We performed a multilinear regression controlling for repeated measures to determine the best predictive equation for VO2 . The first derivative of our equation was used to find the gradient for minimal VO2 . RESULTS: Our equation explains 79% of the variation in VO2 and indicates that over-ground walking is similar to treadmill walking, except that the gradient associated with the minimal energy expenditure of walking is steeper (-11% to -20%) than that established from treadmill walking. CONCLUSIONS: Although our overall equation is an accurate predictor of VO2 for all velocities, burden, incline, and decline in this group, further research needs to be conducted to examine kinetic, kinematic, and velocity interactions in over-ground walking.


Assuntos
Metabolismo Energético , Consumo de Oxigênio , Caminhada , Adulto , Cidades , Feminino , Humanos , Modelos Teóricos , Dispositivos Eletrônicos Vestíveis , Mulheres , Adulto Jovem
5.
PLoS Genet ; 10(9): e1004606, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25188341

RESUMO

Alzheimer's disease (AD) and related dementias are a major public health challenge and present a therapeutic imperative for which we need additional insight into molecular pathogenesis. We performed a genome-wide association study and analysis of known genetic risk loci for AD dementia using neuropathologic data from 4,914 brain autopsies. Neuropathologic data were used to define clinico-pathologic AD dementia or controls, assess core neuropathologic features of AD (neuritic plaques, NPs; neurofibrillary tangles, NFTs), and evaluate commonly co-morbid neuropathologic changes: cerebral amyloid angiopathy (CAA), Lewy body disease (LBD), hippocampal sclerosis of the elderly (HS), and vascular brain injury (VBI). Genome-wide significance was observed for clinico-pathologic AD dementia, NPs, NFTs, CAA, and LBD with a number of variants in and around the apolipoprotein E gene (APOE). GalNAc transferase 7 (GALNT7), ATP-Binding Cassette, Sub-Family G (WHITE), Member 1 (ABCG1), and an intergenic region on chromosome 9 were associated with NP score; and Potassium Large Conductance Calcium-Activated Channel, Subfamily M, Beta Member 2 (KCNMB2) was strongly associated with HS. Twelve of the 21 non-APOE genetic risk loci for clinically-defined AD dementia were confirmed in our clinico-pathologic sample: CR1, BIN1, CLU, MS4A6A, PICALM, ABCA7, CD33, PTK2B, SORL1, MEF2C, ZCWPW1, and CASS4 with 9 of these 12 loci showing larger odds ratio in the clinico-pathologic sample. Correlation of effect sizes for risk of AD dementia with effect size for NFTs or NPs showed positive correlation, while those for risk of VBI showed a moderate negative correlation. The other co-morbid neuropathologic features showed only nominal association with the known AD loci. Our results discovered new genetic associations with specific neuropathologic features and aligned known genetic risk for AD dementia with specific neuropathologic changes in the largest brain autopsy study of AD and related dementias.


Assuntos
Doença de Alzheimer/diagnóstico , Doença de Alzheimer/genética , Demência/diagnóstico , Demência/etiologia , Estudo de Associação Genômica Ampla , Membro 1 da Subfamília G de Transportadores de Cassetes de Ligação de ATP , Transportadores de Cassetes de Ligação de ATP/genética , Encéfalo/patologia , Estudos de Casos e Controles , Mapeamento Cromossômico , Cromossomos Humanos Par 18 , Cromossomos Humanos Par 9 , Predisposição Genética para Doença , Hipocampo/metabolismo , Hipocampo/patologia , Humanos , N-Acetilgalactosaminiltransferases/genética , Razão de Chances , Fenótipo , Placa Amiloide , Locos de Características Quantitativas
6.
J Anat ; 229(1): 82-91, 2016 07.
Artigo em Inglês | MEDLINE | ID: mdl-26916466

RESUMO

Previous work suggests females are evolutionarily adapted to have greater lumbar lordosis than males to aid in pregnancy load-bearing, but no consensus exists. To explore further sex-differences in the lumbar spine, and to understand contradictions in the literature, we conducted a cross-sectional retrospective study of sex-differences in lumbar spine morphology and sacral orientation. In addition, our sample includes data for separate standing and supine samples of males and females to examine potential sex-differences in postural loading on lumbosacral morphology. We measured sagittal lumbosacral morphology on 200 radiographs. Measurements include: lumbar angle (L1-S1), lumbar vertebral body and disc wedging angles, sacral slope and pelvic incidence. Lumbar angle, representative of lordotic curvature between L1 and S1, was 7.3° greater in females than males, when standing. There were no significant sex-differences in lumbar angle when supine. This difference in standing lumbar angle can be explained by greater lordotic wedging of the lumbar vertebrae (L1-L5) in females. Additionally, sacral slope was greater in females than males, when standing. There were no significant sex-differences in pelvic incidence. Our results support that females have greater lumbar lordosis than males when standing, but not when supine - suggesting a potentially greater range of motion in the female spine. Furthermore, sex-differences in the lumbar spine appear to be supported by postural differences in sacral-orientation and morphological differences in the vertebral body wedging. A better understanding of sex-differences in lumbosacral morphology may explain sex-differences in spinal conditions, as well as promote necessary sex-specific treatments.


Assuntos
Vértebras Lombares/anatomia & histologia , Caracteres Sexuais , Adolescente , Adulto , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Equilíbrio Postural , Estudos Retrospectivos , Adulto Jovem
7.
Nat Genet ; 38(7): 752-4, 2006 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-16783378

RESUMO

Neurodegenerative disorders with high brain iron include Parkinson disease, Alzheimer disease and several childhood genetic disorders categorized as neuroaxonal dystrophies. We mapped a locus for infantile neuroaxonal dystrophy (INAD) and neurodegeneration with brain iron accumulation (NBIA) to chromosome 22q12-q13 and identified mutations in PLA2G6, encoding a calcium-independent group VI phospholipase A2, in NBIA, INAD and the related Karak syndrome. This discovery implicates phospholipases in the pathogenesis of neurodegenerative disorders with iron dyshomeostasis.


Assuntos
Encéfalo/metabolismo , Transtornos Heredodegenerativos do Sistema Nervoso/genética , Transtornos Heredodegenerativos do Sistema Nervoso/metabolismo , Ferro/metabolismo , Mutação , Fosfolipases A/genética , Cromossomos Humanos Par 22/genética , Feminino , Humanos , Masculino , Distrofias Neuroaxonais/genética , Distrofias Neuroaxonais/metabolismo , Fosfolipases A/química , Fosfolipases A2 , Síndrome
8.
Hum Mol Genet ; 21(6): 1336-49, 2012 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-22156576

RESUMO

The molecular events responsible for obstruction of aqueous humor outflow and the loss of retinal ganglion cells in glaucoma, one of the main causes of blindness worldwide, remain poorly understood. We identified a synonymous variant, c.765C>T (Thr255Thr), in ankyrin repeats and suppressor of cytokine signaling box-containing protein 10 (ASB10) in a large family with primary open angle glaucoma (POAG) mapping to the GLC1F locus. This variant affects an exon splice enhancer site and alters mRNA splicing in lymphoblasts of affected family members. Systematic sequence analysis in two POAG patient groups (195 US and 977 German) and their respective controls (85 and 376) lead to the identification of 26 amino acid changes in 70 patients (70 of 1172; 6.0%) compared with 9 in 13 controls (13 of 461; 2.8%; P = 0.008). Molecular modeling suggests that these missense variants change ASB10 net charge or destabilize ankyrin repeats. ASB10 mRNA and protein were found to be strongly expressed in trabecular meshwork, retinal ganglion cells and ciliary body. Silencing of ASB10 transcripts in perfused anterior segment organ culture reduced outflow facility by ∼50% compared with control-infected anterior segments (P = 0.02). In conclusion, genetic and molecular analyses provide evidence for ASB10 as a glaucoma-causing gene.


Assuntos
Processamento Alternativo , Glaucoma de Ângulo Aberto/genética , Mutação de Sentido Incorreto/genética , Proteínas Supressoras da Sinalização de Citocina/genética , Malha Trabecular/patologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Sequência de Aminoácidos , Repetição de Anquirina , Sequência de Bases , Estudos de Casos e Controles , Células Cultivadas , Corpo Ciliar/citologia , Corpo Ciliar/metabolismo , Feminino , Glaucoma de Ângulo Aberto/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Técnicas de Cultura de Órgãos , Linhagem , Prognóstico , RNA Mensageiro/genética , Reação em Cadeia da Polimerase em Tempo Real , Células Ganglionares da Retina/citologia , Células Ganglionares da Retina/metabolismo , Proteínas Supressoras da Sinalização de Citocina/química , Proteínas Supressoras da Sinalização de Citocina/metabolismo , Malha Trabecular/metabolismo , Adulto Jovem
9.
Am J Hum Genet ; 88(2): 232-8, 2011 Feb 11.
Artigo em Inglês | MEDLINE | ID: mdl-21295279

RESUMO

We have leveraged a Drosophila model relevant to Alzheimer disease (AD) for functional screening of findings from a genome-wide scan for loci associated with a quantitative measure of AD pathology in humans. In six of the 15 genomic regions evaluated, we successfully identified a causal gene for the association, on the basis of in vivo interactions with the neurotoxicity of Tau, which forms neurofibrillary tangles in AD. Among the top results, rs10845990 within SLC2A14, encoding a glucose transporter, showed evidence of replication for association with AD pathology, and gain and loss of function in glut1, the Drosophila ortholog, was associated with suppression and enhancement of Tau toxicity, respectively. Our strategy of coupling genome-wide association in humans with functional screening in a model organism is likely to be a powerful approach for gene discovery in AD and other complex genetic disorders.


Assuntos
Doença de Alzheimer/genética , Doença de Alzheimer/patologia , Drosophila/genética , Genoma , Emaranhados Neurofibrilares/genética , Emaranhados Neurofibrilares/patologia , Polimorfismo de Nucleotídeo Único/genética , Animais , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Transportador de Glucose Tipo 1/genética , Humanos , Fenótipo , Locos de Características Quantitativas , Transdução de Sinais , Proteínas tau/genética
10.
Acta Neuropathol ; 127(6): 825-43, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24770881

RESUMO

Hippocampal sclerosis of aging (HS-Aging) is a high-morbidity brain disease in the elderly but risk factors are largely unknown. We report the first genome-wide association study (GWAS) with HS-Aging pathology as an endophenotype. In collaboration with the Alzheimer's Disease Genetics Consortium, data were analyzed from large autopsy cohorts: (#1) National Alzheimer's Coordinating Center (NACC); (#2) Rush University Religious Orders Study and Memory and Aging Project; (#3) Group Health Research Institute Adult Changes in Thought study; (#4) University of California at Irvine 90+ Study; and (#5) University of Kentucky Alzheimer's Disease Center. Altogether, 363 HS-Aging cases and 2,303 controls, all pathologically confirmed, provided statistical power to test for risk alleles with large effect size. A two-tier study design included GWAS from cohorts #1-3 (Stage I) to identify promising SNP candidates, followed by focused evaluation of particular SNPs in cohorts #4-5 (Stage II). Polymorphism in the ATP-binding cassette, sub-family C member 9 (ABCC9) gene, also known as sulfonylurea receptor 2, was associated with HS-Aging pathology. In the meta-analyzed Stage I GWAS, ABCC9 polymorphisms yielded the lowest p values, and factoring in the Stage II results, the meta-analyzed risk SNP (rs704178:G) attained genome-wide statistical significance (p = 1.4 × 10(-9)), with odds ratio (OR) of 2.13 (recessive mode of inheritance). For SNPs previously linked to hippocampal sclerosis, meta-analyses of Stage I results show OR = 1.16 for rs5848 (GRN) and OR = 1.22 rs1990622 (TMEM106B), with the risk alleles as previously described. Sulfonylureas, a widely prescribed drug class used to treat diabetes, also modify human ABCC9 protein function. A subsample of patients from the NACC database (n = 624) were identified who were older than age 85 at death with known drug history. Controlling for important confounders such as diabetes itself, exposure to a sulfonylurea drug was associated with risk for HS-Aging pathology (p = 0.03). Thus, we describe a novel and targetable dementia risk factor.


Assuntos
Envelhecimento/genética , Envelhecimento/patologia , Hipocampo/patologia , Polimorfismo de Nucleotídeo Único , Receptores de Sulfonilureias/genética , Idoso de 80 Anos ou mais , Envelhecimento/efeitos dos fármacos , Estudos de Coortes , Bases de Dados como Assunto , Endofenótipos , Estudo de Associação Genômica Ampla , Hipocampo/efeitos dos fármacos , Humanos , Esclerose/genética , Esclerose/patologia , Compostos de Sulfonilureia/efeitos adversos , Compostos de Sulfonilureia/uso terapêutico
11.
Am J Phys Anthropol ; 154(2): 307-14, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24615397

RESUMO

Recently, interest has peaked regarding the posture of extinct hominins. Here, we present a new method of reconstructing lordosis angles of extinct hominin specimens based on pelvic morphology, more specifically the orientation of the sacrum in relation to the acetabulum (pelvic incidence). Two regression models based on the correlation between pelvic incidence and lordosis angle in living hominoids have been developed. The mean values of the calculated lordosis angles based on these models are 36°-45° for australopithecines, 45°-47° for Homo erectus, 27°-34° for the Neandertals and the Sima de los Huesos hominins, and 49°-51° for fossil H. sapiens. The newly calculated lordosis values are consistent with previously published values of extinct hominins (Been et al.: Am J Phys Anthropol 147 (2012) 64-77). If the mean values of the present nonhuman hominoids are representative of the pelvic and lumbar morphology of the last common ancestor between humans and nonhuman hominoids, then both pelvic incidence and lordosis angle dramatically increased during hominin evolution from 27° ± 5 to 22° ± 3 (respectively) in nonhuman hominoids to 54° ± 10 and 51° ± 11 in modern humans. This change to a more human-like configuration appeared early in the hominin evolution as the pelvis and spines of both australopithecines and H. erectus show a higher pelvic incidence and lordosis angle than nonhuman hominoids. The Sima de los Huesos hominins and Neandertals show a derived configuration with a low pelvic incidence and lordosis angle.


Assuntos
Hominidae/anatomia & histologia , Vértebras Lombares/anatomia & histologia , Pelve/anatomia & histologia , Postura/fisiologia , Animais , Humanos , Hylobates/anatomia & histologia
12.
Foot Ankle Int ; 34(7): 941-8, 2013 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-23478886

RESUMO

BACKGROUND: Calcaneal fractures with open wounds are prone to soft tissue complications. We describe a particular subclass of open injury that occurs on the plantar surface of the foot, medial to the anterior process of the calcaneus, the plantar medial wound (PMW). The purpose of this study was to evaluate soft tissue healing and potential complications in open calcaneal fractures that have a PMW. METHODS: We established the time to soft tissue healing and the status of the injured limb of 11 adults with 12 calcaneal fractures with a PMW. This was a retrospective review of prospectively gathered data at a Level I trauma center. RESULTS: Five fractures developed an infection requiring intravenous antibiotics. Two patients required split thickness skin grafts and 1 patient required a free gracilis flap 10 months after injury to treat a chronic open PMW with resolving osteomyelitis and required a below-knee amputation secondary to flap failure. The most commonly associated bony injury with a PMW was a transcalcaneal-talonavicular fracture dislocation (8/13 injuries). Nonunion of the calcaneal fracture occurred in 3 patients. CONCLUSION: Patients with this type of injury-even those with Gustilo Type I open fractures-need to be apprised that their injury is associated with long-term sequelae, including complications with wound healing, high infection rates, and a higher potential for subsequent amputation than other open hind foot wounds. The Tscherne classification of open wounds should be used in the future. LEVEL OF EVIDENCE: Level IV, retrospective case series.


Assuntos
Calcâneo/lesões , Fixação Interna de Fraturas , Fraturas Expostas/complicações , Fraturas Expostas/terapia , Lesões dos Tecidos Moles/terapia , Cicatrização , Adolescente , Adulto , Feminino , Traumatismos do Pé/etiologia , Traumatismos do Pé/patologia , Traumatismos do Pé/terapia , Fraturas Expostas/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Lesões dos Tecidos Moles/etiologia , Lesões dos Tecidos Moles/patologia , Resultado do Tratamento , Adulto Jovem
13.
PLoS One ; 18(4): e0284450, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37071649

RESUMO

Despite a paucity of physiological evidence, simplistic biomechanical analyses have led researchers to assume that humans who have wider hips use more energy to walk. Pitting biomechanical first principles against physiological data has led to little deepening of our understanding of bipedalism and its evolution. Both approaches, however, use proxies for the energy used by muscles. We decided to approach the question directly. Using a musculoskeletal model of the human body that estimates the metabolic energy expenditure of muscle activation for 48 people (23 women), 752 trials were evaluated. Metabolic energy consumption for the abductor muscles was summed over a stride to create total abductor energy expenditure. We calculated the maximum hip joint moment acting in the coronal plane and the functional distance between the hip joint centers. We hypothesize that wider hips would be correlated with both maximum coronal plane hip moment and increased total abductor energy expenditure when mass and velocity were controlled. Linear regressions with multiple independent variables, clustered by participant to control for the non-independence of the data points, were performed in Stata. We found that hip width does not predict total abductor energy expenditure, although mass and velocity combine to predict 61% of the variation (both p<0.001). Maximum hip joint coronal plane moment is predicted by pelvic width (p<0.001) and, in combination with mass and velocity (both p<0.001), explains 79% of the variation. Our results indicate that people use their morphology in ways that limit differences in energy expenditure. Consistent with recent discussion, intraspecific variation might not be useful to understand differences among species.


Assuntos
Quadril , Músculo Esquelético , Humanos , Feminino , Músculo Esquelético/fisiologia , Articulação do Quadril/fisiologia , Caminhada/fisiologia , Metabolismo Energético , Fenômenos Biomecânicos
14.
Sci Adv ; 9(16): eadg3200, 2023 04 21.
Artigo em Inglês | MEDLINE | ID: mdl-37075109

RESUMO

Echinoderm mass mortality events shape marine ecosystems by altering the dynamics among major benthic groups. The sea urchin Diadema antillarum, virtually extirpated in the Caribbean in the early 1980s by an unknown cause, recently experienced another mass mortality beginning in January 2022. We investigated the cause of this mass mortality event through combined molecular biological and veterinary pathologic approaches comparing grossly normal and abnormal animals collected from 23 sites, representing locations that were either affected or unaffected at the time of sampling. Here, we report that a scuticociliate most similar to Philaster apodigitiformis was consistently associated with abnormal urchins at affected sites but was absent from unaffected sites. Experimentally challenging naïve urchins with a Philaster culture isolated from an abnormal, field-collected specimen resulted in gross signs consistent with those of the mortality event. The same ciliate was recovered from treated specimens postmortem, thus fulfilling Koch's postulates for this microorganism. We term this condition D. antillarum scuticociliatosis.


Assuntos
Ecossistema , Ouriços-do-Mar , Animais , Região do Caribe
15.
Am J Phys Anthropol ; 149(4): 616-21, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23097193

RESUMO

The estimated lower limb length (0.761-0.793 m) of the partial skeleton of Australopithecus afarensis from Woranso-Mille (KSD-VP-1/1) is outside the previously known range for Australopithecus and within the range of modern humans. The lower limb length of KSD-VP-1/1 is particularly intriguing when juxtaposed against the lower limb length estimate of the other partial skeleton of A. afarensis, AL 288-1 (0.525 m). A sample of 36 children (age, >7 years, trochanteric height = 0.56-0.765 m) and 16 adults (trochanteric height = 0.77-1.00 m) walked at their self-selected slow, preferred, and fast walking velocities, while their oxygen consumption was monitored. Lower limb length and velocity were correlated with slow (P < 0.001, r(2) = 0.44), preferred (P < 0.001, r(2) = 0.55), and fast (P < 0.001, r(2) = 0.69) walking velocity. The relationship between optimal velocity and lower limb length was also determined and lower limb length explained 47% of the variability in optimal velocity. The velocity profile for KSD-VP-1/1 (slow = 0.73-0.75 m/s, preferred = 1.08-1.11 m/s, and fast = 1.48-1.54 m/s) is 36-44% higher than that of AL 288-1 (slow = 0.53 m/s, preferred = 0.78 m/s, and fast = 1.07 m/s). The optimal velocity for AL 288-1 is 1.04 m/s, whereas that for KSD-VP-1/1 is 1.29-1.33 m/s. This degree of lower limb length dimorphism suggests that members of a group would have had to compromise their preferences to walk together or to split into subgroups to walk at their optimal velocity.


Assuntos
Antropologia Física , Tamanho Corporal/fisiologia , Fêmur/anatomia & histologia , Hominidae/anatomia & histologia , Hominidae/fisiologia , Caminhada/fisiologia , Adolescente , Adulto , Animais , Fenômenos Biomecânicos , Criança , Fósseis , Humanos , Modelos Lineares , Extremidade Inferior/anatomia & histologia , Pessoa de Meia-Idade
16.
Am J Phys Anthropol ; 147(1): 64-77, 2012 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-22052243

RESUMO

The lordotic curvature of the lumbar spine (lumbar lordosis) in humans is a critical component in the ability to achieve upright posture and bipedal gait. Only general estimates of the lordotic angle (LA) of extinct hominins are currently available, most of which are based on the wedging of the vertebral bodies. Recently, a new method for calculating the LA in skeletal material has become available. This method is based on the relationship between the lordotic curvature and the orientation of the inferior articular processes relative to vertebral bodies in the lumbar spines of living primates. Using this relationship, we developed new regression models in order to calculate the LAs in hominins. The new models are based on primate group-means and were used to calculate the LAs in the spines of eight extinct hominins. The results were also compared with the LAs of modern humans and modern nonhuman apes. The lordotic angles of australopithecines (41° ± 4), H. erectus (45°) and fossil H. sapiens (54° ± 14) are similar to those of modern humans (51° ± 11). This analysis confirms the assumption that human-like lordotic curvature was a morphological change that took place during the acquisition of erect posture and bipedalism as the habitual form of locomotion. Neandertals have smaller lordotic angles (LA = 29° ± 4) than modern humans, but higher angles than nonhuman apes (22° ± 3). This suggests possible subtle differences in Neandertal posture and locomotion from that of modern humans.


Assuntos
Fósseis , Hominidae/anatomia & histologia , Vértebras Lombares/anatomia & histologia , Postura/fisiologia , Adulto , Análise de Variância , Animais , Antropologia Física , Antropometria , Evolução Biológica , Feminino , Humanos , Lemur , Macaca , Masculino , Modelos Biológicos , Análise de Regressão , Saimiri
17.
Proc Natl Acad Sci U S A ; 106(33): 14034-9, 2009 Aug 18.
Artigo em Inglês | MEDLINE | ID: mdl-19666518

RESUMO

Disorders of water balance are among the most common and morbid of the electrolyte disturbances, and are reflected clinically as abnormalities in the serum sodium concentration. The transient receptor potential vanilloid 4 (TRPV4) channel is postulated to comprise an element of the central tonicity-sensing mechanism in the mammalian hypothalamus, and is activated by hypotonic stress in vitro. A nonsynonymous polymorphism in the TRPV4 gene gives rise to a Pro-to-Ser substitution at residue 19. We show that this polymorphism is significantly associated with serum sodium concentration and with hyponatremia (serum sodium concentration < or =135 mEq/L) in 2 non-Hispanic Caucasian male populations; in addition, mean serum sodium concentration is lower among subjects with the TRPV4(P19S) allele relative to the wild-type allele. Subjects with the minor allele were 2.4-6.4 times as likely to exhibit hyponatremia as subjects without the minor allele (after inclusion of key covariates). Consistent with these observations, a human TRPV4 channel mutated to incorporate the TRPV4(P19S) polymorphism showed diminished response to hypotonic stress (relative to the wild-type channel) and to the osmotransducing lipid epoxyeicosatrienoic acid in heterologous expression studies. These data suggest that this polymorphism affects TRPV4 function in vivo and likely influences systemic water balance on a population-wide basis.


Assuntos
Hiponatremia/genética , Polimorfismo Genético , Canais de Cátion TRPV/genética , Canais de Cátion TRPV/fisiologia , Idoso , Alelos , Animais , Estudos de Coortes , Humanos , Hiponatremia/diagnóstico , Masculino , Camundongos , Mutação , Osteoporose/genética , Prolina/química , Serina/química , Fatores Sexuais
18.
Alzheimers Dement ; 8(6): 584-9, 2012 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-23102128

RESUMO

One of the recommendations of the 2010 Leon Thal Symposium, organized to develop strategies to prevent Alzheimer's disease, was to build a global database of longitudinal aging studies. Although several databases of longitudinal aging studies exist, none of these are comprehensive or complete. In this article, we review selected databases of longitudinal aging studies. We also make recommendations on future steps to create a comprehensive database. Additionally, we discuss issues related to data harmonization.


Assuntos
Envelhecimento , Bases de Dados como Assunto , Bases de Dados Factuais , Estudos Longitudinais , Humanos
19.
J Mot Behav ; 54(4): 410-421, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-34641775

RESUMO

Using the dynamic system approach, we examined the pattern and variability of inter-joint coordination in barefoot and shod walking in 20 women at three speeds: SLOW, FAST, and comfortable walking speed (CWS). We found that barefoot and shod walking used different coordination strategies to cope with increasing walking speed. As walking speed increased, ankle-knee coordination patterns between shod and barefoot became less different (p < 0.00001), and ankle-hip coordination patterns became more different (p < 0.001). Compared to shod, barefoot walking had significantly lower coordination variability in mid stance of knee-hip at CWS and FAST and late swing of ankle-hip at SLOW and CWS with medium effect (effect size 0.61-0.74). Future research should investigate the connection between the decreased coordination variability and joint tissue stress to understand the impact of barefoot walking on the lower extremity joints.


Assuntos
Marcha , Velocidade de Caminhada , Articulação do Tornozelo , Fenômenos Biomecânicos , Feminino , Humanos , Articulação do Joelho , Sapatos , Caminhada
20.
Anat Rec (Hoboken) ; 305(11): 3254-3262, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-35132804

RESUMO

Human foot morphology has been of interest to anatomists, clinicians, and paleontologists for a century due to its importance in bipedal walking. Foot shape changes as forces move through it from the body to the substrate. Although the arch of the foot has been extensively evaluated, the role of foot morphology in the change of the arch height in walking is less explored. To remedy this lacuna, the Arch Indices (AIs) of the left and right feet of 77 people were calculated in double and single stance standing and walking (dynamic) conditions. The feet were categorized into clinical foot types (cavus, normal, planus). The change in static AI between double and single stance was used to predict dynamic AI and the difference between predicted and observed dynamic AI was examined. As expected, AIs increased (i.e., arch height decreased) with increasing load on the foot for the entire sample and each foot type (p's > .001), but the ability of change in static AIs to predict dynamic AI varied among foot types, implicating the possibility of variability in foot mechanics among foot types. While planus feet change stiffness during walking, presumably due to muscular action, cavus feet are more variable in their response to load. Static and dynamic AIs are effective in reflecting the changes in foot stiffness that occur in walking and future work should examine the role of extrinsic muscle activation in this stiffness change.


Assuntos
, Caminhada , Fenômenos Biomecânicos , Pé/anatomia & histologia , Humanos , Caminhada/fisiologia
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