scholarly journals A report on the impact of rapid prenatal exome sequencing on the clinical management of 52 ongoing pregnancies; a retrospective review

Author(s):  
E Dempsey ◽  
A Haworth ◽  
L Ive ◽  
R Dubis ◽  
H Savage ◽  
...  
2019 ◽  
Vol 153 (4) ◽  
pp. 537-547
Author(s):  
M Edye Conway ◽  
Cassidi Dailey Kalejta ◽  
Darci L Sternen ◽  
Ila R Singh

Abstract Objectives To demonstrate the impact of genetics specialists on identifying test order errors and improving reimbursement for genetic testing. Methods Forty-four cases in which whole exome sequencing (WES) was performed but not reimbursed were reviewed by a genetic counselor through simulated prospective and retrospective reviews. Results Fifty-two percent of WES requests were ordered by nongenetics providers. Retrospective review revealed that 50% of cases were denied because of contractual constraints on billing. If review by a genetic counselor had occurred in real time, modifications or cancellations would have been recommended in 82% of the cases. Conclusions A laboratory stewardship program involving genetics experts identified test order errors and opportunities for improved reimbursement and cost savings. Significant variables affected reimbursement, including inpatient status, payer criteria, and ordering provider specialty.


2021 ◽  
Vol 42 (Supplement_1) ◽  
pp. S162-S163
Author(s):  
Jennifer B Radics-Johnson ◽  
Daniel W Chacon ◽  
Li Zhang

Abstract Introduction Burn camps provide a unique environment and activities for children that have experienced a burn-injury. Positive outcomes from attending burn camp include increased self-esteem, decreased feelings of isolation and a greater sense of self-confidence. In a 3-year retrospective review of camper evaluations from one of the largest and longest running week-long burn camps in the nation for ages 5–17, we aimed to assess if a child’s gender, age, TBSA or ethnicity affected the impact that burn camp had on a child. Methods A 3-year retrospective review of a Burn Camp’s camper evaluation forms was conducted for campers that attended burn camp between 2017–2019. Camp rosters were reviewed to determine the camper gender, age, TBSA and ethnicity. Camper self-evaluation forms completed at the end of each camp session were reviewed to record camper responses to questions regarding their opinions on the impact camp had on them as well as how camp will impact their lives once they return home. Categorical variables were summarized as frequency and percentage, and continuous variables were described as median and range. To check the relationship between two categorical variables, Chi-square test was used. To compare the continuous variable among groups, Kruskal-Wallis ANOVA was used. Statistical significance was declared based on a p value< 0.5. Results Within 2017–2019, there were 413 camper records. Participants’ demographic characteristics are summarized in Table 1. There were 208 males (50.3%) and 205 females (49.6%). The median age of campers were 11.86, 12.44 and 12.45 for 2017–2019, with the range from 5.16 years to 17.96 years. The median TBSA were 20, 20 and 18 for 2017–2019, with the range from 0.08 to 90. Collectively there were 47.7% Hispanic (n= 197); 24.2% Whites (n=100); 13.1% Black (n= 54); 4.6% Asian (n=19) and 7.7% Other (n=32). There were 395 camper self-evaluation forms submitted. Results of three questions there we were interested in are summarized collectively in Table 2. 57% of campers responded, “Yes, Definitely” to the question “After going to this event, will you feel more comfortable being around your classmates or friends?” 54% responded, “ Yes, Definitely” to the question “Do you feel more confidents in sharing your burn story with others when returning home?” and 51% responded “Yes, Definitely” to “Did you learn anything that will help you when you return home?” Conclusions In analyzing the camper responses, there was no statistically significant difference in responses comparing gender, age, TBSA or ethnicity.


2021 ◽  
Vol 10 (5) ◽  
pp. 1073
Author(s):  
Patricia Martínez-Botía ◽  
Ángel Bernardo ◽  
Andrea Acebes-Huerta ◽  
Alberto Caro ◽  
Blanca Leoz ◽  
...  

The most severe clinical manifestations of the Coronavirus disease 2019 (COVID-19), caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), are due to an unbalanced immune response and a pro-thrombotic hemostatic disturbance, with arterial hypertension or diabetes as acknowledged risk factors. While waiting for a specific treatment, the clinical management of hospitalized patients is still a matter of debate, and the effectiveness of treatments to manage clinical manifestations and comorbidities has been questioned. In this study, we aim to assess the impact of the clinical management of arterial hypertension, inflammation and thrombosis on the survival of COVID-19 patients. The Spanish cohorts included in this observational retrospective study are from HM Hospitales (2035 patients) and from Hospital Universitario Central de Asturias (72 patients). Kaplan Meier survival curves, Cox regression and propensity score matching analyses were employed, considering demographic variables, comorbidities and treatment arms (when opportune) as covariates. The management of arterial hypertension with angiotensin-converting enzyme 2 (ACE2) inhibitors or angiotensin receptor blockers is not detrimental, as was initially reported, and neither was the use of non-steroidal anti-inflammatory drugs (NSAIDs). On the contrary, our analysis shows that the use on itself of corticosteroids is not beneficial. Importantly, the management of COVID-19 patients with low molecular weight heparin (LMWH) as an anticoagulant significantly improves the survival of hospitalized patients. These results delineate the current treatment options under debate, supporting the effectiveness of thrombosis prophylaxis on COVID-19 patients as a first-line treatment without the need for compromising the treatment of comorbidities, while suggesting cautiousness when administering corticosteroids.


Surgery ◽  
2021 ◽  
Author(s):  
Joshua N. Herb ◽  
Brittney M. Williams ◽  
Kevin A. Chen ◽  
Jessica C. Young ◽  
Brooke A. Chidgey ◽  
...  

Author(s):  
Raúl H. Morales-Borges

AbstractMethylenetetrahydrofolate reductase (MTHFR) mutations have been linked to many diseases. Evidence has been provided to prove that we need to perform pharmacogenetic studies regarding the prevalence of MTHFR mutations and diseases, risks, and the impact on folate requirement in general, but little has been published about Puerto Ricans. A multi center cross-sectional retrospective review study or a prospective pharmacogenetic study of valid genotypes and phenotypes of MTHFR mutations within the different populations of Puerto Ricans and Hispanics are recommended, because differences within them and within the general population are expected.


1997 ◽  
Vol 21 (3) ◽  
pp. 148-150 ◽  
Author(s):  
Ann Macaskill ◽  
Norman Macaskill ◽  
A. Nicol

The Royal College of Psychiatrists launched a five year campaign in 1992 to better inform health practitioners and the public about depression. A questionnaire survey of Sheffield general practitoners (GPs) to assess the impact of the Defeat Depression Campaign on their knowledge and clinical management of depression was carried out in May 1994, half way through the campaign. Overall, 75% of GPs who responded indicated that the Defeat Depression Campaign had had little or no impact on their clinical practice. It would appear that at its mid-point the Defeat Depression Campaign failed to achieve its main goals in relation to educating GPs about depression and its management.


2015 ◽  
Vol 47 (9) ◽  
pp. 1503-1508 ◽  
Author(s):  
Douglas H. Russell ◽  
Mitchell S. Wachtel ◽  
Heiko W. de Riese ◽  
Allan L. Haynes ◽  
Werner T. W. de Riese

2012 ◽  
Vol 70 (1) ◽  
pp. 34-39 ◽  
Author(s):  
João A. G. Ricardo ◽  
Marcondes C. França Jr. ◽  
Fabrício O. Lima ◽  
Clarissa L. Yassuda ◽  
Fernando Cendes

OBJECTIVES: To assess the frequency of electroencephalogram (EEG) requests in the emergency room (ER) and intensive care unit (ICU) for patients with impairment of consciousness (IC) and its impact in the diagnosis and management. METHODS: We followed patients who underwent routine EEG from ER and ICU with IC until discharge or death. RESULTS: During the study, 1679 EEGs were performed, with 149 (8.9%) from ER and ICU. We included 65 patients and 94 EEGs to analyze. Epileptiform activity was present in 42 (44.7%). EEG results changed clinical management in 72.2% of patients. The main reason for EEG requisition was unexplained IC, representing 36.3% of all EEGs analyzed. Eleven (33%) of these had epileptiform activity. CONCLUSION: EEG is underused in the acute setting. The frequency of epileptiform activity was high in patients with unexplained IC. EEG was helpful in confirming or ruling out the suspected initial diagnosis and changing medical management in 72% of patients.


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