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1.
J Clin Transl Sci ; 7(1): e152, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37528938

RESUMO

We used Cerner Real-World Data™, representing hospital admission records from 2020, to examine patients with co-occurring sickle cell disease and COVID-19 by discharge disposition grouped as death/hospice versus transfers to other facilities, returned home, or left against medical advice. Among the death/hospice group, we found older age and higher rates of congestive heart failure and diabetes. There were also significant differences in tachypnea, mechanical ventilation, minimum O2 saturation, and length of stay with higher rates in the death/hospice group. Awareness of such factors and associated mortality risks for this population may aid in patient care.

2.
JMIR Form Res ; 6(8): e39772, 2022 Aug 30.
Artigo em Inglês | MEDLINE | ID: mdl-35973033

RESUMO

BACKGROUND: The emergence of COVID-19 exacerbated the existing epidemic of opioid use disorder (OUD) across the United States due to the disruption of in-person treatment and support services. Increased use of technology including telehealth and the development of new partnerships may facilitate coordinated treatment interventions that comprehensively address the health and well-being of individuals with OUD. OBJECTIVE: The analysis of this pilot program aimed to determine the feasibility of delivering a COVID-19 telehealth care management program using SMS text messages for patients receiving OUD treatment. METHODS: Eligible individuals were identified from a statewide opioid treatment program (OTP) network. Those who screened positive for COVID-19 symptoms were invited to connect to care management through a secure SMS text message that was compliant with Health Insurance Portability and Accountability Act standards. Care management monitoring for COVID-19 was provided for a period of up to 14 days. Monitoring services consisted of daily SMS text messages from the care manager inquiring about the participant's physical health in relation to COVID-19 symptoms by confirming their temperature, if the participant was feeling worse since the prior day, and if the participant was experiencing symptoms such as coughing or shortness of breath. If COVID-19 symptoms worsened during this observation period, the care manager was instructed to refer participants to the hospital for acute care services. The feasibility of the telehealth care management intervention was assessed by the rates of adoption in terms of program enrollment, engagement as measured by the number of SMS text message responses per participant, and retention in terms of the number of days participants remained in the program. RESULTS: Between January and April 2021, OTP staff members referred 21 patients with COVID-19 symptoms, and 18 (82%) agreed to be contacted by a care manager. Participants ranged in age from 27 to 65 years and primarily identified as female (n=12, 67%) and White (n=15, 83%). The majority of participants were Medicaid recipients (n=14, 78%). There were no statistically significant differences in the demographic characteristics between those enrolled and not enrolled in the program. A total of 12 (67%) patients were enrolled in the program, with 2 (11%) opting out of SMS text message communication and choosing instead to speak with a care manager verbally by telephone. The remaining 10 participants answered a median of 7 (IQR 4-10) SMS text messages and were enrolled in the program for a median of 9 (IQR 7.5-12) days. No participants were referred for acute care services or hospitalized during program enrollment. CONCLUSIONS: These results demonstrate the feasibility of a novel telehealth intervention to monitor COVID-19 symptoms among OTP patients in treatment for OUD. Further research is needed to determine the applicability of this intervention to monitor patients with comorbid chronic conditions in addition to the acceptability among patients and providers using the SMS text messaging modality.

3.
Artigo em Inglês | MEDLINE | ID: mdl-35846074

RESUMO

Background: Opioid-related inpatient hospital stays are increasing at alarming rates. Unidentified and poorly treated opioid withdrawal may be associated with inpatients leaving against medical advice and increased health care utilization. To address these concerns, we developed and implemented a clinical pathway to screen and treat medical service inpatients for opioid withdrawal. Methods: The pathway process included a two-item universal screening instrument to identify opioid withdrawal risk (Opioid Withdrawal Risk Assessment [OWRA]), use of the validated Clinical Opiate Withdrawal Scale (COWS) to monitor opioid withdrawal symptoms and severity, and a 72-h buprenorphine/naloxone-based treatment protocol. Implementation outcomes including adoption, fidelity, and sustainability of this new pathway model were measured. To assess if there were changes in nursing staff acceptability, appropriateness, and adoption of the new pathway process, a cross-sectional survey was administered to pilot four hospital medical units before and after pathway implementation. Results: Between 2016 and 2018, 72.4% (77,483/107,071) of admitted patients received the OWRA screening tool. Of those, 3.0% (2,347/77,483) were identified at risk for opioid withdrawal. Of those 2,347 patients, 2,178 (92.8%) were assessed with the COWS and 29.6% (645/2,178) were found to be in active withdrawal. A total of 49.5% (319/645) patients were treated with buprenorphine/naloxone. Fifty-seven percent (83/145) of nurses completed both the pre- and post-pathway implementation surveys. Analysis of the pre/post survey data revealed that nurse respondents were more confident in their ability to determine which patients were at risk for withdrawal (p = .01) and identify patients currently experiencing withdrawal (p < .01). However, they cited difficulty working with the patient population and coordinating care with physicians. Conclusions: Our study demonstrates a process for successfully implementing and sustaining a clinical pathway to screen and treat medical service inpatients for opioid withdrawal. Standardizing care delivery for patients in opioid withdrawal can also improve nursing confidence when working with this complex population.

6.
Am J Public Health ; 110(10): 1512-1518, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32816540

RESUMO

The humanitarian crisis revealed as a result of Hurricane Maria in Puerto Rico demonstrates a long history of US colonial neglect and human rights violations. This reality has made it especially difficult for the people of Puerto Rico to achieve their right to the highest attainable standard of health.The impacts are pervasive, resulting in disparities in Puerto Rican health, including water access and quality; wealth, including economic loss and disinvestment; and sustainability of the island's resources. As a result of failed governmental protection and support, public health issues related to access to care, a failing infrastructure, and discrimination all contributed to crisis on the island. A human rights framework is necessary to assess the ongoing human rights violations of the quality of life to support millions of American citizens on the island.This essay utilizes a rights-based approach to reveal historical disenfranchisement of Puerto Rico before the storms, identifies the specific human rights violations that resulted from the US government's lack of emergency preparedness and responsiveness, and demands rebuilding the island to reconcile all that has been lost.


Assuntos
Altruísmo , Colonialismo , Saúde Pública , Direito à Saúde , Tempestades Ciclônicas , Disparidades nos Níveis de Saúde , Humanos , Porto Rico , Qualidade de Vida
8.
J Neurotrauma ; 36(21): 3018-3025, 2019 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-31044646

RESUMO

Gait evaluation after spinal cord injury (SCI) is an important component of determining functional status. Analysis of center of pressure (COP) provides a dynamic reflection of global locomotion and postural control and has been used to quantify various gait abnormalities. We hypothesized that COP variability would be greater for SCI versus normal dogs and that COP would be able to differentiate varying injury severity. Our objective was to investigate COP, COP variability, and body weight support percentage in dogs with chronic SCI. Eleven chronically non-ambulatory dogs after acute severe thoracolumbar SCI were enrolled. COP measurements in x (right-to-left, COPx) and y (craniocaudal, COPy) directions were captured while dogs walked on a pressure-sensitive treadmill with pelvic limb sling support. Root mean square values (RMS_COPx and RMS_COPy) were calculated to assess variability in COP. Body weight support percentage was measured using a load cell. Gait also was quantified using an open field scale (OFS) and treadmill-based stepping and coordination scores (SS, RI). Mean COPx, COPy, RMS_COPx, and RMS_COPy were compared between dogs with SCI and previously evaluated healthy controls. RMS measurements and support percentage were compared with standard gait scales (OFS, SS, RI). Mean COPy was more cranial and RMS_COPx and RMS_COPy were greater in SCI versus normal dogs (p < 0.001). Support percentage moderately correlated with SS (p = 0.019; R2 = 0.47). COP analysis and body weight support measurements offer information about post-injury locomotion. Further development is needed before consideration as an outcome measure to complement validated gait analysis methods in dogs with SCI.


Assuntos
Análise da Marcha/instrumentação , Equilíbrio Postural/fisiologia , Traumatismos da Medula Espinal/veterinária , Animais , Cães , Vértebras Lombares , Vértebras Torácicas
9.
Med Decis Making ; 37(8): 849-859, 2017 11.
Artigo em Inglês | MEDLINE | ID: mdl-28423982

RESUMO

BACKGROUND: The Operations Research Interest Group (ORIG) within the Society of Medical Decision Making (SMDM) is a multidisciplinary interest group of professionals that specializes in taking an analytical approach to medical decision making and healthcare delivery. ORIG is interested in leveraging mathematical methods associated with the field of Operations Research (OR) to obtain data-driven solutions to complex healthcare problems and encourage collaborations across disciplines. This paper introduces OR for the non-expert and draws attention to opportunities where OR can be utilized to facilitate solutions to healthcare problems. METHODS: Decision making is the process of choosing between possible solutions to a problem with respect to certain metrics. OR concepts can help systematically improve decision making through efficient modeling techniques while accounting for relevant constraints. Depending on the problem, methods that are part of OR (e.g., linear programming, Markov Decision Processes) or methods that are derived from related fields (e.g., regression from statistics) can be incorporated into the solution approach. This paper highlights the characteristics of different OR methods that have been applied to healthcare decision making and provides examples of emerging research opportunities. EXAMPLES: We illustrate OR applications in healthcare using previous studies, including diagnosis and treatment of diseases, organ transplants, and patient flow decisions. Further, we provide a selection of emerging areas for utilizing OR. CONCLUSIONS: There is a timely need to inform practitioners and policy makers of the benefits of using OR techniques in solving healthcare problems. OR methods can support the development of sustainable long-term solutions across disease management, service delivery, and health policies by optimizing the performance of system elements and analyzing their interaction while considering relevant constraints.


Assuntos
Tomada de Decisões , Atenção à Saúde/organização & administração , Pesquisa Operacional , Algoritmos , Humanos , Cadeias de Markov
10.
Am J Hum Biol ; 28(1): 129-37, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26179444

RESUMO

OBJECTIVES: We report cross-sectional, objectively measured physical activity data for 399 children and adolescents aged 6 to 18 years. We evaluated physical activity of children and adolescents, considered time spent in each activity intensity category, and explored the impact of growth disruption (stunting and wasting) on physical activity patterns. METHODS: Participants wore an Actical (Mini-Mitter, Bend, OR) omnidirectional accelerometer for one week as part of their annual visit to the Jiri Growth Study. The percentage of time spent in standard activity intensities were computed using standard metabolic equivalents (METS) cutpoints and compared by chronological age, sex, and school versus non-school days. RESULTS: Primary findings include (1) children are more active on non-school days and adolescents are more active during the school week; (2) Jirel children do not exhibit the reduction in physical activity that most Western populations experience during the transition from childhood to adolescence; and (3) Jirel children and adolescents routinely meet the suggested one hour/day MVPA threshold; (4) Stunting is prevalent and factors leading to this growth disruption may contribute to the amount of time in sedentary or light physical activity. CONCLUSIONS: We report child and adolescent physical activity patterns from the Jirel population of eastern Nepal. In this rural context, children and adolescents are more active than populations reported from Western contexts. This key finding has important biomedical implications for the maintenance of healthy body composition, skeletal health, and other health traits.


Assuntos
Atividade Motora , Acelerometria , Adolescente , Fatores Etários , Criança , Estudos Transversais , Feminino , Humanos , Masculino , Nepal , População Rural , Instituições Acadêmicas , Fatores Sexuais , Fatores de Tempo
11.
Jt Comm J Qual Patient Saf ; 41(12): 542-9, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26567144

RESUMO

BACKGROUND: Early evidence suggests that multidisciplinary programs designed to expedite transfer from the emergency department (ED) may decrease boarding times. However, few models exist that provide effective ways to improve the ED- to-ICU transition process. In 2012 Christiana Care Health System (Newark, Delaware) created and implemented an interdepartmental program designed to expedite the transition of care from the ED to the medical ICU (MICU). METHODS: This quasi-experimental study compared ED length of stay (LOS), MICU LOS, and overall hospital LOS before and after the MICU Alert Team (MAT) intervention program. The MAT consisted of a MICU nurse and physician assistant, with oversight by a MICU attending physician. The ED triggered the MAT after patients were stabilized and determined to require MICU admission. Following bedside face-to-face hand off, the MAT providers then assumed responsibly of a patient's care. If no MICU bed was available, the MAT cared for patients in the ED until they were transferred to the MICU. RESULTS: ED LOS was reduced by 30% (2.6 hours) from baseline (p < .001). There were no significant differences in MICU LOS (p = .26), overall hospital LOS (p = .43), or mortality (p = .59). ED LOS was shortened (p < .001) at each increasing level of MICU bed availability (31% when 0 MICU beds available; 26% when 1 or more MICU beds available). Time series analysis identified a 1.5-hour drop in ED LOS (p = .02) for patients transferred from the MICU immediately following intervention implementation and was sustained over time. CONCLUSION: Early outcomes demonstrate that the MAT intervention can reduce ED LOS for critically ill patients. Additional studies should determine optimal approaches to improve clinical outcomes.


Assuntos
Serviço Hospitalar de Emergência/organização & administração , Unidades de Terapia Intensiva/organização & administração , Transferência de Pacientes/organização & administração , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Tempo de Internação , Masculino , Pessoa de Meia-Idade , Admissão do Paciente , Equipe de Assistência ao Paciente/organização & administração , Fatores de Tempo
12.
Am J Hum Biol ; 25(6): 743-50, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24022874

RESUMO

OBJECTIVES: There is phenotypic overlap between Brachydactyly Type D (BDD) and Brachydactyly Type E (BDE) that suggests a possible common underlying etiology. We seek to understand the genetic underpinnings of, and relationship between, these skeletal anomalies. METHODS: The Jirel ethnic group of eastern Nepal participates in various genetic epidemiologic studies, including those in which hand-wrist radiographs have been taken to examine skeletal development. Nearly 2,130 individuals (969 males; 1,161 females) were phenotyped for BDD/BDE. Of these, 1,722 individuals (773 males; 949 females) were genotyped for 371 STR markers spanning the autosomal genome. Variance components-based linkage analysis was used to conduct a genome-wide linkage scan for QTL influencing the BDD/BDE phenotype. RESULTS: BDD was present in 3.55%, and BDE was present in 0.39%, of the study sample. Because of the phenotypic overlap between two traits, affecteds of either type were considered as affected by a single combined phenotype (BDD/BDE) having a prevalence of 3.94%. The additive genetic heritability of BDD/BDE was highly significant (h(2) ± SE = 0.89 ± 0.13; P = 1.7 × 10(-11) ). Significant linkage of BDD/BDE was found to markers on chromosome 7p21-7p14 (peak LOD score = 3.74 at 7p15 between markers D7S493 and D7S516). CONCLUSIONS: Possible positional candidate genes in the one-lod support interval of this QTL include TWIST and the HOXA1-A13 cluster. This is the first study to report significant linkage results for BDD/BDE using a large extended pedigree, and the first to suggest that mutations in TWIST and/or the HOXA1-A13 cluster may contribute to these specific skeletal anomalies.


Assuntos
Braquidactilia/genética , Dedos/anormalidades , Escore Lod , Adolescente , Adulto , Braquidactilia/epidemiologia , Braquidactilia/etnologia , Criança , Pré-Escolar , Mapeamento Cromossômico , Feminino , Genótipo , Humanos , Masculino , Nepal/epidemiologia , Locos de Características Quantitativas , Característica Quantitativa Herdável
13.
Philos Trans R Soc Lond B Biol Sci ; 367(1590): 887-94, 2012 Mar 19.
Artigo em Inglês | MEDLINE | ID: mdl-22312056

RESUMO

Host genetic factors exert significant influences on differential susceptibility to many infectious diseases. In addition, population structure of both host and parasite may influence disease distribution patterns. In this study, we assess the effects of population structure on infectious disease in two populations in which host genetic factors influencing susceptibility to parasitic disease have been extensively studied. The first population is the Jirel population of eastern Nepal that has been the subject of research on the determinants of differential susceptibility to soil-transmitted helminth infections. The second group is a Brazilian population residing in an area endemic for Trypanosoma cruzi infection that has been assessed for genetic influences on differential disease progression in Chagas disease. For measures of Ascaris worm burden, within-population host genetic effects are generally more important than host population structure factors in determining patterns of infectious disease. No significant influences of population structure on measures associated with progression of cardiac disease in individuals who were seropositive for T. cruzi infection were found.


Assuntos
Doença de Chagas/genética , Etnicidade/genética , Predisposição Genética para Doença/genética , Genética Populacional , Helmintíase/genética , Interações Hospedeiro-Parasita/genética , Animais , Ascaris/genética , Brasil/epidemiologia , Doença de Chagas/epidemiologia , Helmintíase/epidemiologia , Humanos , Nepal/epidemiologia , Trypanosoma cruzi/genética
14.
Am J Hum Biol ; 24(1): 68-73, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22131202

RESUMO

OBJECTIVE: Brachymesophalangia-V (BMP-V), the general term for a short and broad middle phalanx of the 5th digit, presents both alone and in a large number of complex brachydactylies and developmental disorders. Past anthropological and epidemiological studies of growth and development have examined the prevalence of BMP-V because small developmental disorders may signal more complex disruptions of skeletal growth and development. Historically, however, consensus on qualitative phenotype methodology has not been established. In large-scale, non-clinical studies such as the Fels Longitudinal Study and the Jiri Growth Study, quantitative assessment of the hand is not always the most efficient manner of screening for skeletal dysmorphologies. The current study evaluates qualitative phenotyping techniques for BMP-V used in past anthropological studies of growth and development to establish a useful and reliable screening method for large study samples. METHODS: A total of 1,360 radiographs from Jiri Growth Study participants aged 3-18 years were evaluated. BMP-V was assessed using three methods: (1) subjective evaluation of length and width of the bone; (2) comparison with skeletal age-matched radiographs; and (3) subjective evaluation of the length of the middle 4th and 5th phalanges. RESULTS: We found that the method that uses skeletal age-matched reference radiographs is the better tool for assessing BMP-V because it considers the shape, rather than solely the length and width of the bone, which can be difficult to judge accurately without measurement. This study highlights the complexity of phenotypic assessment of BMP-V and by extension other brachydactylies.


Assuntos
Antropometria/métodos , Braquidactilia/diagnóstico por imagem , Falanges dos Dedos da Mão/anormalidades , Dedos/anormalidades , Adolescente , Braquidactilia/epidemiologia , Criança , Pré-Escolar , Feminino , Falanges dos Dedos da Mão/diagnóstico por imagem , Dedos/diagnóstico por imagem , Humanos , Estudos Longitudinais , Masculino , Nepal/epidemiologia , Fenótipo , Prevalência , Radiografia
15.
PLoS Negl Trop Dis ; 4(4): e665, 2010 Apr 20.
Artigo em Inglês | MEDLINE | ID: mdl-20421919

RESUMO

Macroparasite infections (e.g., helminths) remain a major human health concern. However, assessing transmission dynamics is problematic because the direct observation of macroparasite dispersal among hosts is not possible. We used a novel landscape genetics approach to examine transmission of the human roundworm Ascaris lumbricoides in a small human population in Jiri, Nepal. Unexpectedly, we found significant genetic structuring of parasites, indicating the presence of multiple transmission foci within a small sampling area ( approximately 14 km(2)). We analyzed several epidemiological variables, and found that transmission is spatially autocorrelated around households and that transmission foci are stable over time despite extensive human movement. These results would not have been obtainable via a traditional epidemiological study based on worm counts alone. Our data refute the assumption that a single host population corresponds to a single parasite transmission unit, an assumption implicit in many classic models of macroparasite transmission. Newer models have shown that the metapopulation-like pattern observed in our data can adversely affect targeted control strategies aimed at community-wide impacts. Furthermore, the observed metapopulation structure and local mating patterns generate an excess of homozygotes that can accelerate the spread of recessive traits such as drug resistance. Our study illustrates how molecular analyses complement traditional epidemiological information in providing a better understanding of parasite transmission. Similar landscape genetic approaches in other macroparasite systems will be warranted if an accurate depiction of the transmission process is to be used to inform effective control strategies.


Assuntos
Ascaríase/parasitologia , Ascaríase/transmissão , Ascaris lumbricoides/classificação , Ascaris lumbricoides/genética , DNA de Helmintos/genética , Adolescente , Adulto , Idoso , Animais , Ascaris lumbricoides/isolamento & purificação , Criança , Pré-Escolar , Análise por Conglomerados , Feminino , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Nepal , Adulto Jovem
16.
Public Health Nutr ; 12(8): 1052-60, 2009 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-18778532

RESUMO

OBJECTIVE: Physical inactivity poses a major risk for obesity and chronic disease, and is influenced by both genetic and environmental factors. However, the genetic association between physical activity (PA) level and obesity is not well characterized. Our aims were to: (i) estimate the extent of additive genetic influences on physical activity while adjusting for household effects; and (ii) determine whether physical activity and adiposity measures share common genetic effects. SUBJECTS: The sample included 521 (42 % male) adult relatives, 18-86 years of age, from five large families in the Southwest Ohio Family Study. DESIGN: Sport, leisure and work PA were self-reported (Baecke Questionnaire of Habitual Physical Activity). Total body and trunk adiposity, including percentage body fat (%BF), were measured using dual-energy X-ray absorptiometry. Abdominal visceral and subcutaneous adipose tissue mass were measured using MRI. RESULTS: Heritabilities for adiposity and PA traits, and the genetic, household and environmental correlations among them, were estimated using maximum likelihood variance components methods. Significant genetic effects (P < 0.05) were found for sport (h2 = 0.26) and leisure PA (h2 = 0.17). Significant (P < 0.05) household effects existed for leisure PA (c2 = 0.25). Sport PA had a negative genetic correlation with central adiposity measurements adjusted for height (rhoG > |-0.40|). Sport and leisure PA had negative genetic correlations with %BF (rhoG > |-0.46|). CONCLUSIONS: The results suggest that the association of sport and leisure PA with lower adiposity is due, in part, to a common genetic inheritance of both reduced adiposity and the predisposition to engage in more physical activity.


Assuntos
Tecido Adiposo , Adiposidade/genética , Predisposição Genética para Doença , Atividades de Lazer , Atividade Motora/genética , Obesidade/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Meio Ambiente , Exercício Físico , Características da Família , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Ohio , Fenótipo , Esportes/estatística & dados numéricos , Trabalho , Adulto Jovem
17.
Hum Biol ; 80(6): 623-36, 2008 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19728540

RESUMO

Growth is a complex process composed of distinct phases over the course of childhood. Although the pubertal growth spurt has received the most attention from auxologists and pediatricians, the midchildhood growth spurt has been less well studied. The midchildhood growth spurt refers to a relatively small increase in growth velocity observed in some, but not necessarily all, children in early to middle childhood. If present, the midchildhood growth spurt typically occurs sometime between the ages of 4 and 8 years, well before the onset of the far more pronounced pubertal growth spurt. In this study we used a triple logistic curve-fitting method to fit individual growth curves to serial stature data from 579 healthy participants in the Fels Longitudinal Study, 479 of whom have been genotyped for about 400 short tandem repeat (STR) markers spanning the genome. We categorized individuals according to the presence or absence of a midchildhood growth spurt and then conducted heritability and genome-wide linkage analyses on the dichotomous trait. In the total sample of 579 individuals, 336 (58%) were found to have evidence of having had a midchildhood growth spurt. There was a marked sex difference in presence of the midchildhood growth spurt, however, with 232 of the 293 males (79%) having had a midchildhood growth spurt but just 104 of the 286 females (36%) having had one. Presence of a midchildhood growth spurt was found to have a significant heritability of 0.37 +/- 0.14 (p = 0.003). Two quantitative trait loci with suggestive LOD scores were found: one at 12 cM on chromosome 17p13.2 (LOD = 2.13) between markers D17S831 and D17S938 and one at 85 cM on chromosome 12q14 (LOD = 2.06) between markers D12S83 and D12S326.


Assuntos
Desenvolvimento Infantil , Ligação Genética , Adolescente , Criança , Pré-Escolar , Interpretação Estatística de Dados , Feminino , Genoma Humano , Genótipo , Humanos , Escore Lod , Estudos Longitudinais , Masculino , Repetições de Microssatélites , Ohio , Fatores Sexuais
18.
Hum Biol ; 79(6): 609-22, 2007 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-18494372

RESUMO

Brachymesophalangia-V (BMP-V), a short and broad middle phalanx of the fifth digit, is the most common of all skeletal anomalies of the hand. When this feature appears alone, it is clinically known as brachydactyly type A3 (BDA3). A high prevalence of BDA3 has been observed among the children of the Jirel ethnic group in eastern Nepal. As part of the Jiri Growth Study, a hand-wrist radiograph is taken annually of each child to assess skeletal development. For this study the most recent radiographs of 1,357 Jirel children, adolescents, and young adults (676 boys, 681 girls), age 3-20 years, were examined for the presence or absence of BDA3, to report the prevalence and estimate the heritability of BDA3 in the Jirel population. The overall prevalence of BDA3 in this sample was 10.5% (12.9% of the males and 8.9% of the females were classified as BDA3 affected). The additive genetic heritability of BDA3 was statistically significant in this sample (h2 +/- SE = 0.87 +/- 0.16, p < 0.0001). This study is the first to estimate the prevalence and heritability of BDA3 in a large South Asian family-based sample.


Assuntos
Falanges dos Dedos da Mão/anormalidades , Genética Populacional/métodos , Deformidades Congênitas da Mão/epidemiologia , Deformidades Congênitas da Mão/genética , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Falanges dos Dedos da Mão/diagnóstico por imagem , Deformidades Congênitas da Mão/diagnóstico por imagem , Humanos , Masculino , Nepal/epidemiologia , Fenótipo , Prevalência , Radiografia
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