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Velocardiofacial and DiGeorge syndromes, also known as 22q11.2 deletion syndrome (22q11DS), are congenital-anomaly disorders caused by a de novo hemizygous 22q11.2 deletion mediated by meiotic nonallelic homologous recombination events between low-copy repeats, also known as segmental duplications. Although previous studies exist, each was of small size, and it remains to be determined whether there are parent-of-origin biases for the de novo 22q11.2 deletion. To address this question, we genotyped a total of 389 DNA samples from 22q11DS-affected families. A total of 219 (56%) individuals with 22q11DS had maternal origin and 170 (44%) had paternal origin of the de novo deletion, which represents a statistically significant bias for maternal origin (p = 0.0151). Combined with many smaller, previous studies, 465 (57%) individuals had maternal origin and 345 (43%) had paternal origin, amounting to a ratio of 1.35 or a 35% increase in maternal compared to paternal origin (p = 0.000028). Among 1,892 probands with the de novo 22q11.2 deletion, the average maternal age at time of conception was 29.5, and this is similar to data for the general population in individual countries. Of interest, the female recombination rate in the 22q11.2 region was about 1.6-1.7 times greater than that for males, suggesting that for this region in the genome, enhanced meiotic recombination rates, as well as other as-of-yet undefined 22q11.2-specific features, could be responsible for the observed excess in maternal origin.
Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 22 , Síndrome de DiGeorge/genética , Adulto , Feminino , Predisposição Genética para Doença , Genótipo , Humanos , MasculinoRESUMO
PURPOSE: To evaluate pulmonary embolism (PE) prevalence at CT pulmonary angiography in patients testing positive for coronavirus disease 2019 (COVID-19) and factors associated with PE severity. MATERIALS AND METHODS: A retrospective, single-center study evaluated 62 patients who tested positive for COVID-19 who underwent CT pulmonary angiography between March 13 and April 5, 2020. Another 62-patient cohort who underwent CT pulmonary angiography before the first reported local COVID-19 case was retrospectively selected. The relative rate of CT pulmonary angiography positivity was recorded. For the COVID-19 positive cohort, comorbidities, laboratory values, clinical outcome, and venous thrombosis of the patients were recorded. Two thoracic radiologists assessed embolic severity using the Mastora system and evaluated right heart strain. Factors associated with PE and arterial obstruction severity were evaluated by using statistical analysis. A P value < .05 was considered significant. RESULTS: Of the patients testing positive for COVID-19, 37.1% had PE, higher than 14.5% of pre-COVID-19 patients (P = .007). d-dimer levels closest to CT pulmonary angiography date correlated with the Mastora obstruction score. Receiver operating characteristic analysis identified optimal sensitivity (95%) and specificity (71%) for PE diagnosis at 1394 ng/mL d-dimer units. The mean d-dimer level was 1774 ng/mL and 6432 ng/mL d-dimer units in CT pulmonary angiography-negative and CT pulmonary angiography-positive subgroups, respectively (P < .001). One additional patient with negative results at CT pulmonary angiography had deep venous thrombosis, thus resulting in 38.7% with PE or deep venous thrombosis, despite 40% receiving prophylactic anticoagulation. Other factors did not demonstrate significant PE association. CONCLUSION: A total of 37.1% of COVID-19 patients underwent CT pulmonary angiographic examinations diagnosing PE. PE can be a cause of decompensation in patients testing positive for COVID-19, and d-dimer can be used to stratify patients in terms of PE risk and severity.Supplemental material is available for this article.© RSNA, 2020.
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PURPOSE: The Lung CT Screening Reporting and Data SystemTM (Lung-RADSTM) was created to standardize lung cancer screening CT reporting and recommendations but has not been well validated prospectively in clinical practice. The aim of this study was to determine the effectiveness of lung cancer screening using Lung-RADS in a diverse, underserved, academic clinical screening program, focusing on whether Lung-RADS would successfully reduce the 23.3% false-positive rate found in the National Lung Screening Trial. METHODS: Institutional review board approval was obtained to study the clinical lung cancer screening cohort. Low-dose CT results were prospectively assigned a Lung-RADS or equivalent score. The proportion of examinations in each Lung-RADS category and the corresponding lung cancer rate, subsequent imaging, interventions, mortality, and compliance were tracked. The National Death Index was queried for follow-up losses. RESULTS: The cohort comprised 1,181 patients with 2,270 person-years of follow-up from December 2012 to December 2016. The mean age was 64 ± 16.2 years, with 51% women, 63% nonwhite, 71% current smokers, 69% overweight and obese, and multiple comorbidities. The Lung-RADS false-positive rate was 10.4% (95% confidence interval, 8.8%-12.3%). Baseline CT results were negative in 87% (n = 1,031): for Lung-RADS 1, the lung cancer rate was 0.2%, and for Lung-RADS 2, the cancer rate was 0.5%. Positive baseline examinations were Lung-RADS 3 in 10% (n = 119), 4a in 1.2% (n = 14), and 4b in 1.5% (n = 18). Corresponding cancer rates were 3.4%, 43%, and 83%, respectively. Lung cancer prevalence was 2.1%. Mortality was 40% in patients with lung cancer versus 2.5% in the remaining cohort (P < .001). Fifty-four percent of patients were overdue for first annual examinations. Eighty-four percent of patients (n = 989) had follow-up verified via electronic records or personal contact, and the remainder had vital status ascertained via the National Death Index. CONCLUSIONS: Lung cancer screening using Lung-RADS was effective in reducing the false-positive rate compared with the National Lung Screening Trial in a diverse and underserved urban population.
Assuntos
Neoplasias Pulmonares/diagnóstico por imagem , Programas de Rastreamento/métodos , Tomografia Computadorizada por Raios X , Idoso , Reações Falso-Positivas , Feminino , Humanos , Neoplasias Pulmonares/epidemiologia , Neoplasias Pulmonares/mortalidade , Masculino , Pessoa de Meia-Idade , Cidade de Nova Iorque/epidemiologia , Prevalência , Estudos Prospectivos , População UrbanaRESUMO
PURPOSE: The purpose of this study was to describe the baseline characteristics and results of the initial 18 months of our clinical computed tomography (CT) lung cancer screening program in an ethnically diverse, poor, predominantly overweight, and obese population, which differs dramatically from the National Lung Screening Trial population. MATERIALS AND METHODS: All patients had a physician referral for CT lung cancer screening and met National Lung Screening Trial eligibility criteria. Infrastructure developed for the program included a standardized results report [Bronx score of 1 to 5 (modeled on BI-RADS)] for the electronic medical record and a dedicated bilingual screening coordinator. If the patient's insurance did not cover CT screening, a fee of $75 was charged. RESULTS: A total of 320 patients [54% (174) men, mean age 64 y] underwent initial CT lung cancer screening from December 18, 2012 to July 3, 2014. The median pack-years was 47, and 68% (218) were current smokers. Twenty-six percent (84) were white, and 70% (223) were overweight (101) or obese (122). The lung cancer prevalence was 2.2% (7/320). Seventy-eight percent (7/9) of patients with CT findings positive for lung cancer (score 5a, 5b) had proven lung cancer; 1 had stage 1 (1B) disease, and 6 had stage IIA or higher disease. The false-positive rate for a Bronx score ≥3 was 19% (60). Medicare and Medicaid insure 80% of the institution's overall population but only 38% (121) of the CT screening patients. CONCLUSIONS: CT screening is feasible in a diverse inner-city population with the support of a robust infrastructure. Further study is needed to determine whether CT screening will confer a mortality benefit in this population.