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1.
JAMA Netw Open ; 7(7): e2419624, 2024 Jul 01.
Article in English | MEDLINE | ID: mdl-38949809

ABSTRACT

Importance: Addressing poor uptake of low-dose computed tomography lung cancer screening (LCS) is critical, especially for those having the most to gain-high-benefit persons with high lung cancer risk and life expectancy more than 10 years. Objective: To assess the association between LCS uptake and implementing a prediction-augmented shared decision-making (SDM) tool, which enables clinicians to identify persons predicted to be at high benefit and encourage LCS more strongly for these persons. Design, Setting, and Participants: Quality improvement interrupted time series study at 6 Veterans Affairs sites that used a standard set of clinical reminders to prompt primary care clinicians and screening coordinators to engage in SDM for LCS-eligible persons. Participants were persons without a history of LCS who met LCS eligibility criteria at the time (aged 55-80 years, smoked ≥30 pack-years, and current smoking or quit <15 years ago) and were not documented to be an inappropriate candidate for LCS by a clinician during October 2017 through September 2019. Data were analyzed from September to November 2023. Exposure: Decision support tool augmented by a prediction model that helps clinicians personalize SDM for LCS, tailoring the strength of screening encouragement according to predicted benefit. Main outcome and measure: LCS uptake. Results: In a cohort of 9904 individuals, the median (IQR) age was 64 (57-69) years; 9277 (94%) were male, 1537 (16%) were Black, 8159 (82%) were White, 5153 (52%) were predicted to be at intermediate (preference-sensitive) benefit and 4751 (48%) at high benefit, and 1084 (11%) received screening during the study period. Following implementation of the tool, higher rates of LCS uptake were observed overall along with an increase in benefit-based LCS uptake (higher screening uptake among persons anticipated to be at high benefit compared with those at intermediate benefit; primary analysis). Mean (SD) predicted probability of getting screened for a high-benefit person was 24.8% (15.5%) vs 15.8% (11.8%) for a person at intermediate benefit (mean absolute difference 9.0 percentage points; 95% CI, 1.6%-16.5%). Conclusions and Relevance: Implementing a robust approach to personalized LCS, which integrates SDM, and a decision support tool augmented by a prediction model, are associated with improved uptake of LCS and may be particularly important for those most likely to benefit. These findings are timely given the ongoing poor rates of LCS uptake.


Subject(s)
Decision Making, Shared , Early Detection of Cancer , Lung Neoplasms , Humans , Lung Neoplasms/diagnosis , Aged , Male , Early Detection of Cancer/methods , Early Detection of Cancer/statistics & numerical data , Female , Middle Aged , Aged, 80 and over , Tomography, X-Ray Computed/methods , Tomography, X-Ray Computed/statistics & numerical data , United States , Interrupted Time Series Analysis , Quality Improvement
2.
J Clin Med ; 12(19)2023 Sep 29.
Article in English | MEDLINE | ID: mdl-37834938

ABSTRACT

Technology-based physical activity interventions have been shown to be efficacious in chronic obstructive pulmonary disease (COPD), though their potential impact has not been fully realized due to ineffective implementation. We used a convergent, parallel mixed-methods design to identify patient- and provider-facing barriers and facilitators to implementing a rigorously studied web-based physical activity intervention for COPD. Quantitative surveys (based on the unified theory of acceptance and use of technology; range 1 (poor usability)-5 (high usability)) and semi-structured interviews (guided by the practical robust implementation and sustainability model) assessed the perspectives of 15 patients and 15 health care providers. The patients and providers rated the usability of the intervention as high (median = 5.0, IQR = 1.0). For both patients and providers, the main facilitators included: the potential high impact of the intervention on patient health, the usefulness of the intervention for unmet clinical needs, and the perceived ease of use of the intervention. The main barriers identified were digital literacy and its fit with current clinical workflows. Implementation efforts may benefit from supporting patients' use of the website and developing strategies to integrate referrals to the intervention and the monitoring of patients into current clinical infrastructures.

3.
Am J Prev Med ; 65(5): 901-905, 2023 Nov.
Article in English | MEDLINE | ID: mdl-37169315

ABSTRACT

INTRODUCTION: Lung cancer screening can save lives through the early detection of lung cancer, and professional societies recommend key lung cancer screening program components to ensure high-quality screening. Yet, little is known about the key components that comprise the various screening program models in routine clinical settings. The objective was to compare the utilization of these key components across centralized, hybrid, and decentralized lung cancer screening programs. METHODS: The survey was designed to identify current structures and processes of lung cancer screening programs. It was administered electronically to Veterans Health Administration facilities nationally (N=122) between August and December 2021. Results were analyzed between March and August 2022 and stratified by self-identified lung cancer screening program type, and we tested the hypothesis that centralized screening programs would be more likely to have implemented practices that support lung cancer screening, followed by hybrid and decentralized programs, using the Cochran-Armitage trend test. RESULTS: Overall, 69 (56.6%) facilities completed the survey, and respondents were lung cancer screening coordinators (39.1%), pulmonologists (33.3%), and oncologists (10.1%). Facilities most frequently self-identified as having a centralized (37.7%) program model, followed by identifying as having hybrid (30.4%) and decentralized (20.3%) programs. There was varying implementation of practices to support lung cancer screening, with hybrid and decentralized programs less likely to have lung cancer screening registries, lung cancer screening steering committees, or dedicated lung cancer screening coordinators. CONCLUSIONS: Although there is overlap between the components of various lung cancer screening program types, centralized programs more frequently implemented practices before the initial screening to support lung cancer screening. This work provides a path for future investigations to identify which lung cancer screening practices are effective to improve lung cancer screening outcomes, which could help inform implementation in settings with limited resources.


Subject(s)
Lung Neoplasms , Humans , Lung Neoplasms/diagnosis , Veterans Health , Early Detection of Cancer/methods , Surveys and Questionnaires
4.
Pulm Circ ; 12(4): e12171, 2022 Oct.
Article in English | MEDLINE | ID: mdl-36568691

ABSTRACT

Prompt initiation of therapy after pulmonary arterial hypertension (PAH) diagnosis is critical to improve outcomes; yet delays in PAH treatment are common. Prior research demonstrates that individuals with PAH belonging to socially disadvantaged groups experience worse clinical outcomes. Whether these poor outcomes are mediated by delays in care or other factors is incompletely understood. We sought to examine the association between race/ethnicity and socioeconomic status and time-to-PAH treatment. We conducted a retrospective cohort study of Veterans diagnosed with incident PAH between 2006 and 2019 and treated with PAH therapy. Our outcome was time-to-PAH treatment. Our primary exposures were race/ethnicity, annual household income, health insurance status, education, and housing insecurity. We calculated time-to-treatment using multivariable mixed-effects Cox proportional hazard models. Of 1827 Veterans with PAH, 27% were Black, 4% were Hispanic, 22.1% had an income < $20,000, 53.3% lacked non-VA insurance, 25.5% had

5.
Health Expect ; 25(4): 1246-1253, 2022 08.
Article in English | MEDLINE | ID: mdl-35652372

ABSTRACT

INTRODUCTION: Shared decision-making (SDM) is intended to increase patient-centredness of medical decision-making for patients with acute and chronic conditions. Concurrently, patient decision aids (PtDAs) can supplement SDM by providing information to guide communication between patients and healthcare providers. Because of the prevalence of chronic conditions, where decisions may be extended or recurring, we sought to explore how effectively these tools have been leveraged in this context. METHODS: We conducted a narrative review of the literature on both SDM and PtDAs, searching PubMed and Boston University's library database search tool for English-language articles published from January 2005 until March 2021. Additional search terms focused on temporality. Drawing from our findings, we developed a combined framework to highlight areas for future research using the discussion of end-of-life decisions as an exemplar to illustrate its relevance to chronic care contexts. RESULTS: After screening 57 articles, we identified 25 articles that fulfilled the inclusion criteria on SDM, PtDA use and temporality for chronic care. The literature on SDM highlighted time outside of the medical visit and opportunity to include outside decision partners as important elements of the process. PtDAs were commonly evaluated for process-related and proximal outcomes, but less often for distal outcomes. Early evidence points to the value of comparative outcome evaluation based on the timing of PtDA distribution. CONCLUSION: Our review of the literature on SDM and PtDAs reveals less attention to the timing of PtDAs relative to that of SDM. We highlight the need for further study of timing in PtDA use to improve longitudinal SDM for chronic care. The model that we propose in our discussion provides a starting point for future research on PtDA efficacy. PATIENT OR PUBLIC CONTRIBUTION: Five patient consultants provided input and feedback on the development and utility of our model.


Subject(s)
Clinical Decision-Making , Decision Making, Shared , Decision Support Techniques , Patient Participation , Decision Making , Humans
6.
JMIR Hum Factors ; 9(2): e32399, 2022 Apr 01.
Article in English | MEDLINE | ID: mdl-35363144

ABSTRACT

BACKGROUND: Lung cancer risk and life expectancy vary substantially across patients eligible for low-dose computed tomography lung cancer screening (LCS), which has important consequences for optimizing LCS decisions for different patients. To account for this heterogeneity during decision-making, web-based decision support tools are needed to enable quick calculations and streamline the process of obtaining individualized information that more accurately informs patient-clinician LCS discussions. We created DecisionPrecision, a clinician-facing web-based decision support tool, to help tailor the LCS discussion to a patient's individualized lung cancer risk and estimated net benefit. OBJECTIVE: The objective of our study is to test two strategies for implementing DecisionPrecision in primary care at eight Veterans Affairs medical centers: a quality improvement (QI) training approach and academic detailing (AD). METHODS: Phase 1 comprised a multisite, cluster randomized trial comparing the effectiveness of standard implementation (adding a link to DecisionPrecision in the electronic health record vs standard implementation plus the Learn, Engage, Act, and Process [LEAP] QI training program). The primary outcome measure was the use of DecisionPrecision at each site before versus after LEAP QI training. The second phase of the study examined the potential effectiveness of AD as an implementation strategy for DecisionPrecision at all 8 medical centers. Outcomes were assessed by comparing absolute tool use before and after AD visits and conducting semistructured interviews with a subset of primary care physicians (PCPs) following the AD visits. RESULTS: Phase 1 findings showed that sites that participated in the LEAP QI training program used DecisionPrecision significantly more often than the standard implementation sites (tool used 190.3, SD 174.8 times on average over 6 months at LEAP sites vs 3.5 SD 3.7 at standard sites; P<.001). However, this finding was confounded by the lack of screening coordinators at standard implementation sites. In phase 2, there was no difference in the 6-month tool use between before and after AD (95% CI -5.06 to 6.40; P=.82). Follow-up interviews with PCPs indicated that the AD strategy increased provider awareness and appreciation for the benefits of the tool. However, other priorities and limited time prevented PCPs from using them during routine clinical visits. CONCLUSIONS: The phase 1 findings did not provide conclusive evidence of the benefit of a QI training approach for implementing a decision support tool for LCS among PCPs. In addition, phase 2 findings showed that our light-touch, single-visit AD strategy did not increase tool use. To enable tool use by PCPs, prediction-based tools must be fully automated and integrated into electronic health records, thereby helping providers personalize LCS discussions among their many competing demands. PCPs also need more time to engage in shared decision-making discussions with their patients. TRIAL REGISTRATION: ClinicalTrials.gov NCT02765412; https://clinicaltrials.gov/ct2/show/NCT02765412.

7.
Pulm Circ ; 11(2): 20458940211001714, 2021.
Article in English | MEDLINE | ID: mdl-33868640

ABSTRACT

Randomized trials of pulmonary vasodilators in pulmonary hypertension due to left heart disease (Group 2) and lung disease (Group 3) have demonstrated potential for harm. Yet these therapies are commonly used in practice. Little is known of the effects of treatment outside of clinical trials. We aimed to establish outcomes of vasodilator treatment for Groups 2/3 pulmonary hypertension in real-world practice. We conducted a retrospective cohort study of 132,552 Medicare-eligible Veterans with incident Groups 2/3 pulmonary hypertension between 2006 and 2016, and a secondary nested case-control study. Our primary outcome was a composite of death by any cause or selected acute organ failures. In our cohort analysis, we calculated adjusted risks of time to our outcome using Cox proportional hazards models with facility-specific random effects. In our case-control analysis, we used logistic mixed-effects models to estimate the effect of any past, recent, and cumulative exposure on our outcome. From our cohort study, 3249 (2.5%) Veterans were exposed to pulmonary vasodilators. Exposure to vasodilators was associated with increased risk of our primary outcome, in both Group 3 (HR: 1.58 (95% CI: 1.37-1.82)) and Group 2 (HR: 1.26 (95% CI: 1.12-1.41)) pulmonary hypertension patients. The case-control study determined odds of our outcome increased by 11% per year of exposure (OR: 1.11 (95% CI: 1.07-1.16)). Treating Groups 2/3 pulmonary hypertension with vasodilators in clinical practice is associated with increased risk of harm. This extension of trial findings to a real-world setting offers further evidence to limit use of vasodilators in Groups 2/3 pulmonary hypertension outside of clinical trials.

8.
Am J Prev Med ; 60(4): 520-528, 2021 04.
Article in English | MEDLINE | ID: mdl-33342671

ABSTRACT

INTRODUCTION: Little is known about how clinicians make low-dose computed tomography lung cancer screening decisions in practice. Investigators assessed the factors associated with real-world decision making, hypothesizing that lung cancer risk and comorbidity would not be associated with agreeing to or receiving screening. Though these factors are key determinants of the benefit of lung cancer screening, they are often difficult to incorporate into decisions without the aid of decision tools. METHODS: This was a retrospective cohort study of patients meeting current national eligibility criteria and deemed appropriate candidates for lung cancer screening on the basis of clinical reminders completed over a 2-year period (2013-2015) at 8 Department of Veterans Affairs medical facilities. Multilevel mixed-effects logistic regression models (conducted in 2019-2020) assessed predictors (age, sex, lung cancer risk, Charlson Comorbidity Index, travel distance to facility, and central versus outlying decision-making location) of primary outcomes of agreeing to and receiving lung cancer screening. RESULTS: Of 5,551 patients (mean age=67 years, 97% male, mean lung cancer risk=0.7%, mean Charlson Comorbidity Index=1.14, median travel distance=24.2 miles), 3,720 (67%) agreed to lung cancer screening and 2,398 (43%) received screening. Lung cancer risk and comorbidity score were not strong predictors of agreeing to or receiving screening. Empirical Bayes adjusted rates of agreeing to and receiving screening ranged from 22% to 84% across facilities and from 19% to 85% across clinicians. A total of 33.7% of the variance in agreeing to and 34.2% of the variance in receiving screening was associated with the facility or the clinician offering screening. CONCLUSIONS: Substantial variation was found in Veterans agreeing to and receiving lung cancer screening during the Veterans Affairs Lung Cancer Screening Demonstration Project. This variation was not explained by differences in key determinants of patient benefit, whereas the facility and clinician advising the patient had a large impact on lung cancer screening decisions.


Subject(s)
Early Detection of Cancer , Lung Neoplasms , Aged , Bayes Theorem , Cohort Studies , Female , Humans , Lung Neoplasms/diagnosis , Lung Neoplasms/epidemiology , Male , Mass Screening , Retrospective Studies
9.
J Clin Endocrinol Metab ; 102(9): 3226-3233, 2017 09 01.
Article in English | MEDLINE | ID: mdl-28911150

ABSTRACT

Context: Testosterone prescribing rates have increased substantially in the past decade. However, little is known about the context within which such prescriptions occur. Objective: We evaluated provider- and site-level determinants of receipt of testosterone and of guideline-concordant testosterone prescribing. Design: This study was cross-sectional in design. Setting: This study was conducted at the Veterans Health Administration (VA). Participants: Study participants were a national cohort of male patients who had received at least one outpatient prescription within the VA during fiscal year (FY) 2008 to FY 2012. A total of 38,648 providers and 130 stations were associated with these patients. Main Outcome Measure: This study measured receipt of testosterone and guideline-concordant testosterone prescribing. Results: Providers ranging in age from 31 to 60 years, with less experience in the VA [all adjusted odds ratio (AOR), <2; P < 0.01] and credentialed as medical doctors in endocrinology (AOR, 3.88; P < 0.01) and urology (AOR, 1.48; P < 0.01) were more likely to prescribe testosterone compared with older providers, providers of longer VA tenure, and primary care providers, respectively. Sites located in the West compared with the Northeast [AOR, 1.75; 95% confidence interval (CI), 1.45-2.11] and care received at a community-based outpatient clinic compared with a medical center (AOR, 1.22; 95% CI, 1.20-1.24) also predicted testosterone use. Although they were more likely to prescribe testosterone, endocrinologists were also more likely to obtain an appropriate workup before prescribing compared with primary care providers (AOR, 2.14; 95% CI, 1.54-2.97). Conclusions: Our results highlight the opportunity to intervene at both the provider and the site levels to improve testosterone prescribing. This study also provides a useful example of how to examine contributions to prescribing variation at different levels of the health care system.


Subject(s)
Drug Prescriptions/statistics & numerical data , Drug Utilization/statistics & numerical data , Health Personnel , Hospitals, Veterans , Testosterone/therapeutic use , Adult , Age Factors , Cross-Sectional Studies , Databases, Factual , Health Care Surveys , Humans , Incidence , Logistic Models , Male , Middle Aged , Outcome Assessment, Health Care , Predictive Value of Tests , Retrospective Studies , United States , Veterans/statistics & numerical data
10.
Med Care ; 55 Suppl 7 Suppl 1: S20-S25, 2017 07.
Article in English | MEDLINE | ID: mdl-28288076

ABSTRACT

BACKGROUND: Chronic obstructive pulmonary disease (COPD) is one of the most common causes of readmission at Veterans Affairs (VA) hospitals. Previous studies demonstrate worse outcomes for veterans with multisystem health care, though the impact of non-VA care on COPD readmissions is unknown. OBJECTIVE: To examine the association of use of non-VA outpatient care with 30-day readmission and 30-day follow-up among veterans admitted to the VA for COPD. DESIGN: This is a retrospective cohort study using VA administrative data and Medicare claims. SUBJECTS: In total, 20,472 Medicare-eligible veterans who were admitted to VA hospitals for COPD during October 1, 2008 and September 30, 2011. MEASURES: We identified the source of outpatient care during the year before the index hospitalization as VA-only, dual-care (VA and Medicare), and Medicare-only. Outcomes of interest included any-cause 30-day readmission, COPD-specific 30-day readmission and follow-up visit within 30 days of discharge. We used mixed-effects logistic regression, controlling for baseline severity of illness, to examine the association between non-VA care and postdischarge outcomes. RESULTS: There was no association between non-VA care and any-cause readmission. We did identify an increased COPD-specific readmission risk with both dual-care [odds ratio (OR)=1.20; 95% confidence interval (CI), 1.02-1.40] and Medicare-only (OR=1.41; 95% CI, 1.15-1.75). Medicare-only outpatient care was also associated with significantly lower rates of follow-up (OR=0.81; 95% CI, 0.72-0.91). CONCLUSIONS: Differences in disease-specific readmission risk may reflect differences in disease management between VA and non-VA providers. Further research is needed to understand how multisystem care affects coordination and other measures of quality for veterans with COPD.


Subject(s)
Hospitalization , Patient Readmission , Pulmonary Disease, Chronic Obstructive , Veterans Health , Aged , Aged, 80 and over , Delivery of Health Care , Humans , Insurance Claim Review , Middle Aged , Multi-Institutional Systems , Patient Readmission/statistics & numerical data , Retrospective Studies
12.
Vet Parasitol ; 215: 92-5, 2016 Jan 15.
Article in English | MEDLINE | ID: mdl-26790743

ABSTRACT

Tsetse species (Diptera: Glossinidae) are vectors of trypanosome parasites which cause disease in both humans and livestock. In South Africa Glossina austeni Newstead, 1912 and G. brevipalpis Newstead, 1911 are responsible for the cyclical transmission of animal trypanosomes causing African animal trypanosomiasis also referred to as nagana. Gravid tsetse females deposit a single larva in specific sites but little information is available on biotic and abiotic factors that govern site selection. This study therefore aimed to characterize some of the substrate conditions that may influence selection of larviposition sites. Colonised, gravid female G. brevipalpis were presented with a choice of four larviposition sites. Sites differed in qualities of pH (5, 7, 9), salinity (0, 1.3, 4g/L) and the presence of other tsetse pupae (G. brevipalpis or G. austeni). These trials indicated no significant selection by gravid females with regard to pH and salinity. Females selected significantly more often for sites with pupae (P<0.05), but also favored sites containing conspecific over heterospecific pupae (P<0.05). These results present the first indication of an aggregation effect of tsetse pupae in G. brevipalpis. This may imply that G. brevipalpis larvae produce a pheromone during pupation as seen in G. morsitans morsitans. Isolation of such semio-chemicals would allow the development of larviposition traps to attract gravid females.


Subject(s)
Tsetse Flies/physiology , Animals , Female , Hydrogen-Ion Concentration , Larva/physiology , Reproduction/physiology , Surface Properties
13.
Chest ; 141(5): 1153-1159, 2012 May.
Article in English | MEDLINE | ID: mdl-22116799

ABSTRACT

BACKGROUND: Animal models suggest that immunomodulatory properties of macrolide antibiotics have therapeutic value for patients with acute lung injury (ALI). We investigated the association between receipt of macrolide antibiotics and clinical outcomes in patients with ALI. METHODS: Secondary analysis of multicenter, randomized controlled trial data from the Acute Respiratory Distress Syndrome Network Lisofylline and Respiratory Management of Acute Lung Injury Trial, which collected detailed data regarding antibiotic use among participants with ALI. RESULTS: Forty-seven of 235 participants (20%) received a macrolide antibiotic within 24 h of trial enrollment. Among patients who received a macrolide, erythromycin was the most common (57%), followed by azithromycin (40%). The median duration of macrolide use after study enrollment was 4 days (interquartile range, 2-8 days). Eleven of the 47 (23%) patients who received macrolides died, compared with 67 of the 188 (36%) who did not receive a macrolide (P = .11). Participants administered macrolides were more likely to have pneumonia as an ALI risk factor, were less likely to have nonpulmonary sepsis or to be randomized to low tidal volume ventilation, and had a shorter length of stay prior to trial enrollment. After adjusting for potentially confounding covariates, use of macrolide was associated with lower 180-day mortality (hazard ratio [HR], 0.46; 95% CI, 0.23-0.92; P = .028) and shorter time to successful discontinuation of mechanical ventilation (HR, 1.93; 95% CI, 1.18-3.17; P = .009). In contrast, fluoroquinolone (n = 90) and cephalosporin antibiotics (n = 93) were not associated with improved outcomes. CONCLUSIONS: Receipt of macrolide antibiotics was associated with improved outcomes in patients with ALI.


Subject(s)
Acute Lung Injury/drug therapy , Anti-Inflammatory Agents, Non-Steroidal/therapeutic use , Azithromycin/therapeutic use , Clarithromycin/therapeutic use , Erythromycin/therapeutic use , Macrolides/therapeutic use , Pentoxifylline/analogs & derivatives , APACHE , Acute Lung Injury/mortality , Adult , Aged , Combined Modality Therapy , Drug Administration Schedule , Female , Hospital Mortality , Humans , Length of Stay/statistics & numerical data , Male , Middle Aged , Pentoxifylline/therapeutic use , Respiration, Artificial , Survival Rate , Tidal Volume/drug effects
15.
Haematologica ; 80(6): 535-8, 1995.
Article in English | MEDLINE | ID: mdl-8647521

ABSTRACT

We diagnosed Fanconi's anemia (FA) in a 34-year-old lady, daughter of consanguineous parents, from a small Southern Italian town. The patient was pancytopenic when she was 31, and was found to be aplastic at the age of 34. Spontaneous chromosomal breakages were not evident in peripheral blood lymphocyte cultures but the diepoxybutane (DEB) test, carried out during the aplastic phase, was clearly positive. Danazol treatment significantly improved her hematological condition, yielding a Hb peak value of 13.4 g/dL. Four years later moderate pancytopenia has recurred. This case demonstrates that even adult pancytopenic patients may have FA and that a test detecting chromosomal hypersensitivity to cross-linking agents is the only key to a correct diagnosis, which in turn is essential to avoid improper treatment.


Subject(s)
Fanconi Anemia/diagnosis , Adult , Age of Onset , Danazol/therapeutic use , Fanconi Anemia/drug therapy , Female , Humans
17.
Am J Med Genet ; 16(4): 589-94, 1983 Dec.
Article in English | MEDLINE | ID: mdl-6660251

ABSTRACT

A father and three of his offspring had skeletal abnormalities consisting of a short forearm, cubitus valgus, fusion of first and second cervical vertebrae, and cleft of L5 and S1. All four had a reciprocal, apparently balanced, translocation 2;8(q32;p13). Normal sibs had normal chromosomes. We conclude that this may be a rare instance of an autosomal dominant condition associated with a balanced chromosome translocation.


Subject(s)
Abnormalities, Multiple/genetics , Chromosomes, Human, 1-3 , Chromosomes, Human, 6-12 and X , Forearm/abnormalities , Translocation, Genetic , Adult , Cervical Vertebrae/abnormalities , Chromosome Banding , Female , Humans , Lumbosacral Region/abnormalities , Male , Pedigree , Syndrome
19.
Ann Genet ; 26(2): 106-8, 1983.
Article in English | MEDLINE | ID: mdl-6604483

ABSTRACT

The authors report a 10qter deletion in a 16-month-old boy. The patient's phenotype includes: low birth weight, mental and growth retardation, triangular facies, hypertelorism, prominent nasal bridge, malformed and low set ears, cryptorchidism. The karyotype was 46,XY,del(10)(q26.1 leads to qter). Cytogenetic analysis of both parents, including a search for the fragile site in the 10q25 region, were normal. The assignment of the human GOT structural gene to the 10q25.3 band is suggested.


Subject(s)
Abnormalities, Multiple/genetics , Aneuploidy , Chromosomes, Human, 6-12 and X/ultrastructure , Dermatoglyphics , Humans , Infant , Karyotyping , Male , Phenotype
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