scholarly journals Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature

2018 ◽  
Vol 21 (1) ◽  
pp. 3-16 ◽  
Author(s):  
Hadley Stevens Smith ◽  
J. Michael Swint ◽  
Seema R. Lalani ◽  
Jose-Miguel Yamal ◽  
Marcia C. de Oliveira Otto ◽  
...  
2019 ◽  
Vol 34 (4) ◽  
pp. 189-198 ◽  
Author(s):  
Alysa Almojuela ◽  
Mohammed Hasen ◽  
Frederick A. Zeiler

The Full Outline of UnResponsiveness (FOUR) score is a neurologic assessment score. Its benefit over pre-existing scores is its evaluation of brainstem reflexes and respiratory pattern. Our goal was to perform a scoping systematic review of the literature on the application of the FOUR score within pediatric patients. Six databases were searched and 2 reviewers independently screened the results. The initial search yielded 1709 citations; ultimately, 6 studies composed of 571 pediatric patients were used. Four studies examined interobserver reliability of the FOUR score and found it to be good to excellent. All 6 studies demonstrated equivalency of the FOUR score and Glasgow Coma Scale (GCS) in predicting outcome. The existing literature suggests the FOUR score is equivalent to GCS in outcome prediction in pediatric patients; its true superiority over the GCS has not yet been established. It displays good to excellent inter-rater reliability among physicians and nurses.


2019 ◽  
Vol 21 (12) ◽  
pp. 2676-2680 ◽  
Author(s):  
Adrienne Nugent ◽  
Kelly R. Conatser ◽  
Llaran L. Turner ◽  
James T. Nugent ◽  
Esther May B. Sarino ◽  
...  

2021 ◽  
Vol 15 ◽  
pp. 117955652110216
Author(s):  
Parisa Oviedo ◽  
Morgan Bliss

Objective: Masses of the sternoclavicular area are rare, and are not well described in the literature. We aim to present a series of patients with masses in this location and to review all reported English language cases of sternoclavicular masses in pediatric patients. Methods: This is a case series of pediatric patients with masses of the sternoclavicular area presenting to a tertiary care pediatric hospital from 2010 through 2017. Data was collected by using ICD-9 and ICD-10 codes to query the electronic medical record. Chart review included age at presentation, mass characteristics, medical and surgical interventions, and pathology results. A review of the literature was then performed. Results: Ten patients with masses overlying the sternoclavicular area were identified. Four patients presented with abscess and were treated with incision and drainage. Three of these patients were then treated with staged excision once infection cleared. Two additional patients were treated with primary excision. Four patients were treated with observation. The most common histopathologic finding was epidermoid. One patient was found to have a dermoid cyst, and 1 had a congenital cartilaginous rest. Conclusion: Epidermoids and dermoids are the most common masses overlying the sternoclavicular area. Controversy remains regarding the embryologic origin of sternoclavicular masses. The differential for masses in this area also includes branchial remnants, bronchogenic cysts, ganglion cysts, or septic arthritis.


Children ◽  
2020 ◽  
Vol 7 (12) ◽  
pp. 312
Author(s):  
Maximilian David Mauritz ◽  
Carola Hasan ◽  
Larissa Alice Dreier ◽  
Pia Schmidt ◽  
Boris Zernikow

Pediatric Palliative Care (PPC) addresses children, adolescents, and young adults with a broad spectrum of underlying diseases. A substantial proportion of these patients have irreversible conditions accompanied by Severe Neurological Impairment (SNI). For the treatment of pain and dyspnea, strong opioids are widely used in PPC. Nonetheless, there is considerable uncertainty regarding the opioid-related side effects in pediatric patients with SNI, particularly concerning Opioid-Induced Respiratory Depression (OIRD). Research on pain and OIRD in pediatric patients with SNI is limited. Using scoping review methodology, we performed a systematic literature search for OIRD in pediatric patients with SNI. Out of n = 521 identified articles, n = 6 studies were included in the review. Most studies examined the effects of short-term intravenous opioid therapy. The incidence of OIRD varied between 0.13% and 4.6%; besides SNI, comorbidities, and polypharmacy were the most relevant risk factors. Additionally, three clinical cases of OIRD in PPC patients receiving oral or transdermal opioids are presented and discussed. The case reports indicate that the risk factors identified in the scoping review also apply to adolescents and young adults with SNI receiving low-dose oral or transdermal opioid therapy. However, the risk of OIRD should never be a barrier to adequate symptom relief. We recommend careful consideration and systematic observation of opioid therapy in this population of patients.


2021 ◽  
Vol 10 (10) ◽  
pp. 2189
Author(s):  
Thomas Perreault ◽  
César Fernández-de-las-Peñas ◽  
Mike Cummings ◽  
Barry C. Gendron

Sciatica is a condition often accompanied by neuropathic pain (NP). Acupuncture and dry needling are common treatments for pain, and the current literature supports acupuncture as an effective treatment for sciatica. However, it is unknown if the mechanisms of NP are considered in the delivery of needling interventions for sciatica. Our objective was to assess the efficacy and the effectiveness of needling therapies, to identify common needling practices and to investigate if NP mechanisms are considered in the treatment of sciatica. A scoping review of the literature on needling interventions for sciatica and a review of the literature on mechanisms related to NP and needling interventions were performed. Electronic literature searches were conducted on PubMed, MEDLINE, CINAHL and Cochrane Database of Systematic Reviews from inception to August, 2020 to identify relevant papers. Reference lists of included papers were also manually screened and a related-articles search through PubMed was performed on all included articles. Mapping of the results included description of included studies, summary of results, and identification of gaps in the existing literature. Ten articles were included. All studies used acupuncture for the treatment of sciatica, no studies on dry needling were identified. Current evidence supports the efficacy and effectiveness of acupuncture for sciatica, however, no studies considered underlying NP mechanisms in the acupuncture approach for sciatica and the rationale for using acupuncture was inconsistent among trials. This review reveals that neuropathic pain mechanisms are not routinely considered in needling approaches for patients with sciatica. Studies showed acupuncture to be an effective treatment for sciatic pain, however, further research is warranted to explore if needling interventions for sciatica and NP would be more effective if NP mechanisms are considered.


Geriatrics ◽  
2021 ◽  
Vol 6 (2) ◽  
pp. 60
Author(s):  
Kimberley Wilson ◽  
Arne Stinchcombe ◽  
Sophie M. Regalado

Canada has a unique socio-political history concerning the inclusion of lesbian, gay, bisexual, transgender, and queer (LGBTQ+) people. With aging populations, understanding diverse groups of older adults is paramount. We completed a systematic search and scoping review of research in Canada to quantify and articulate the scale and scope of research on LGBTQ+ aging. Our search identified over 4000 results and, after screening for relevance, our review focused on 70 articles. Five major themes in the literature on LGBTQ+ aging in Canada were identified: (1) risk, (2) HIV, (3) stigma, and discrimination as barriers to care, (4) navigating care and identity, (5) documenting the history and changing policy landscapes. Most of the articles were not focused on the aging, yet the findings are relevant when considering the lived experiences of current older adults within LGBTQ+ communities. Advancing the evidence on LGBTQ+ aging involves improving the quality of life and aging experiences for LGBTQ+ older adults through research.


2014 ◽  
Vol 31 (4) ◽  
pp. 233-243
Author(s):  
L. Montgomery ◽  
M. Donnelly

BackgroundService user involvement is receiving increasing support from mental health policy makers, service planners and research commissioners. However, we lack a good understanding of the nature and extent to which service users are involved in personality disorder (PD) services and the effects of involvement in these services.ObjectivesTo review and appraise published sources; increase understanding about service user involvement in PD services; and highlight knowledge gaps and related issues.MethodsA scoping review methodology was adopted. Data were ‘charted’ to illustrate the landscape of writings and views and a qualitative analysis synthesized the results in terms of key emergent themes.ResultsOnly a small amount of published work was identified with significant gaps in the literature. Effects were reported mostly in terms processes and emotional and practical benefits for service users. Emergent themes were wellness and health, recruitment and support for service users.ConclusionsThis scoping review uncovered a lack of published work despite service user involvement being a key strand of health policy. There is a need for outcomes-focused research regarding service user involvement. Successful user involvement in PD services requires attention to be focused on the context, recruitment, support and ‘wellness’ of service users.


2021 ◽  
Author(s):  
Cindy P. Frare ◽  
Alli J. Blumstein ◽  
Amy S. Paller ◽  
Lia Pieretti ◽  
Keith A. Choate ◽  
...  

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