scholarly journals Genetic Mutations in Young Nonsmoking Patients With Oral Cavity Cancer: A Systematic Review

OTO Open ◽  
2020 ◽  
Vol 4 (4) ◽  
pp. 2473974X2097018
Author(s):  
Rohini R. Bahethi ◽  
Katelyn O. Stepan ◽  
Rachel Pinotti ◽  
Ryan Li ◽  
Nishant Agrawal ◽  
...  
Keyword(s):  
Risk Factors ◽  
Oral Cavity ◽  
Similar Rate ◽  
Genetic Alterations ◽  
Small Sample ◽  
Genetic Mutations ◽  
Case Control Studies ◽  
Level Of Evidence ◽  
Tp53 Mutations ◽  
Small Sample Sizes

Objective This investigation aims to review the known genetic mutations associated with oral cavity squamous cell carcinoma (OCSCC) in young adults with limited environmental risk factors (YLERs). Data Sources A comprehensive search strategy was designed to identify studies in MEDLINE (Ovid), Embase (Ovid), and Scopus from database inception to May 2017 that included adults ≤50 years of age with OCSCC and minimal tobacco use history (≤10 pack-years) who had their tumors genetically sequenced or mutational profiles analyzed. Review Methods Identified articles were screened by 2 reviewers. Quality of evidence was graded by the MINORS criteria for case-control studies; other studies were graded by assigning a level of evidence for gene mutation literature. Results Thirteen studies met our inclusion criteria, and 130 patients met our criteria for age and tobacco history. TP53 was the most commonly evaluated gene (10 of 13 studies) and the most frequently observed mutation. One study reported that nonsmokers had significantly fewer TP53 mutations, while 9 studies found no difference in the prevalence of TP53 mutations. No other mutations were found specific to this cohort. Conclusions TP53 mutations may occur at a similar rate in YLERs with OCSCC as compared with older patients or those with risk factors. However, few studies have aimed to characterize the genetic landscape of oral cavity tumors in this population, often with small sample sizes. Future studies are needed to explore unidentified genetic alterations leading to tumor susceptibility or alternative mechanisms of carcinogenesis.

scholarly journals Candida infective endocarditis: A retrospective study of patient characteristics and risk factors for death in 703 U.S. cases, 2015-2019

2020 ◽  
Author(s):  
Jonathan P Huggins ◽  
Samuel Hohmann ◽  
Michael Z David
Keyword(s):  
Risk Factors ◽  
Hospital Mortality ◽  
Liver Failure ◽  
Patient Characteristics ◽  
Medication Administration ◽  
Small Sample ◽  
Risk Of Death ◽  
Opiate Abuse ◽  
Small Sample Sizes ◽  
Valve Pathology

Abstract Background Candida endocarditis is a rare, sometimes fatal complication of candidemia. Past investigations of this condition are limited by small sample sizes. We used the Vizient clinical database to report on characteristics of patients with Candida endocarditis and to examine risk factors for in-hospital mortality. Methods This was a multicenter, retrospective cohort study of 703 inpatients admitted to 179 United States hospitals between October 2015 and April 2019. We reviewed demographic, diagnostic, medication administration, and procedural data from each patient’s initial encounter. Univariate and multivariate logistic regression analyses were used to identify predictors of in-hospital mortality. Results Of 703 patients, 114 (16.2%) died during the index encounter. One hundred and fifty-eight (22.5%) underwent an intervention on a cardiac valve. On multivariate analysis, acute and subacute liver failure was the strongest predictor of death (OR 9.2, 95% CI 4.8 –17.7). Female sex (OR 1.9, 95% CI 1.2 – 3.0), transfer from an outside medical facility (OR 1.8, 95% CI 1.1 – 2.8), aortic valve pathology (OR 2.7, 95% CI 1.5 – 4.9), hemodialysis (OR 2.1, 95% CI 1.1 – 4.0), cerebrovascular disease (OR 2.2, 95% CI 1.2 – 3.8), neutropenia (OR 2.5, 95% CI 1.3 – 4.8), and alcohol abuse (OR 2.9, 95% CI 1.3 – 6.7) were also associated with death on adjusted analysis, whereas opiate abuse was associated with a lower odds of death (OR 0.5, 95% CI 0.2 – 0.9). Conclusions We found that the inpatient mortality rate was 16.2% among patients with Candida endocarditis. Acute and subacute liver failure was associated with a high risk of death while opiate abuse was associated with a lower risk of death.

scholarly journals The impact of the 30 most cited articles on hip arthroscopy: what is the subject matter?

2020 ◽  
Vol 7 (1) ◽  
pp. 14-21
Author(s):  
Alexander von Glinski ◽  
Emre Yilmaz ◽  
Ryan Goodmanson ◽  
Clifford Pierre ◽  
Sven Frieler ◽  
...  
Keyword(s):  
Surgical Treatment ◽  
Hip Arthroscopy ◽  
Randomized Clinical Trials ◽  
Technical Note ◽  
Small Sample ◽  
Level Of Evidence ◽  
Thomson Reuters ◽  
Treatment Indications ◽  
Small Sample Sizes ◽  
The Impact

Abstract The purpose of this study was to identify the 30 most cited articles on hip arthroscopy and discuss their influence on recent surgical treatment. Due to advancements in hip arthroscopy, there is a widening spectrum of diagnostic and treatment indications. The purpose of this study was to identify the 30 most cited articles on hip arthroscopy and discuss their influence on contemporary surgical treatment. The Thomson Reuters Web of Science was used to identify the 30 most cited studies on hip arthroscopy between 1900 and 2018. These 30 articles generated 6152 citations with an average of 205.07 citations per item. Number of citations ranged from 146 to 461. Twenty-five out of the 30 papers were clinical cohort studies with a level of evidence between III and IV, encompassing 4348 patients. Four studies were reviewed (one including a technical note) and one a case report. We were able to identify the 30 most cited articles in the field of hip arthroscopy. Most articles were reported in high-impact journals, but reported small sample sizes in a retrospective setting. Prospective multi-arm cohort trials or randomized clinical trials represent opportunities for future studies.

A Review of Feeding Interventions for Infants with Cleft Palate

2004 ◽  
Vol 41 (3) ◽  
pp. 268-278 ◽  
Author(s):  
Julie Reid
Keyword(s):  
Cleft Palate ◽  
Nutrition Education ◽  
Small Sample ◽  
Data Driven ◽  
Quality Of Data ◽  
Level Of Evidence ◽  
Feeding Methods ◽  
Level I ◽  
Small Sample Sizes ◽  
Feeding Interventions

Objective A literature review was conducted to identify feeding interventions recommended for infants with cleft conditions. Selected articles were critically appraised using an evidence-based practice framework to determine the strength of the evidence underpinning each intervention. Design Electronic databases were searched for reports of cleft palate feeding interventions. The selected articles were coded as being data driven or not; those containing data were then critically appraised using a recognized evidence hierarchy. Finally, each report was ascribed a level of evidence (from I to IV), depending on the quality of data presented. Results Fifty-five articles published between 1955 and 2002 were reviewed. There are currently no completed systematic reviews relevant to this body of literature (level I evidence). Two well-designed randomized controlled trials (level II evidence) were found. These were considered to provide the strongest evidence for feeding intervention techniques. These articles described a combination of interventions, including early feeding and nutrition education, as well as assisted feeding methods for infants with isolated cleft conditions. Three examples of level III.3 evidence were also found. Fifty (91%) of 55 articles reviewed were non–data-driven reports of expert opinion (level IV). Conclusions A paucity of evidence rated as either moderate or strong prevailed, underscoring the need for ongoing scientific evaluation of feeding interventions used with infants who have cleft palate. A number of factors, including the heterogeneity of samples studied, lack of replication of trials, and small sample sizes, affected the type and strength of evidence underpinning specific feeding interventions.

scholarly journals A framework for measurement and harmonization of pediatric multiple sclerosis etiologic research studies: The Pediatric MS Tool-Kit

2018 ◽  
Vol 25 (8) ◽  
pp. 1170-1177 ◽  
Author(s):  
Sandra Magalhaes ◽  
Brenda Banwell ◽  
Amit Bar-Or ◽  
Isabel Fortier ◽  
Heather E Hanwell ◽  
...  
Keyword(s):  
Risk Factors ◽  
Multiple Sclerosis ◽  
Vitamin D ◽  
Delphi Study ◽  
Sun Exposure ◽  
Small Sample ◽  
Sample Sizes ◽  
Vitamin D Intake ◽  
Measurement Framework ◽  
Small Sample Sizes

Background: While studying the etiology of multiple sclerosis (MS) in children has several methodological advantages over studying etiology in adults, studies are limited by small sample sizes. Objective: Using a rigorous methodological process, we developed the Pediatric MS Tool-Kit, a measurement framework that includes a minimal set of core variables to assess etiological risk factors. Methods: We solicited input from the International Pediatric MS Study Group to select three risk factors: environmental tobacco smoke (ETS) exposure, sun exposure, and vitamin D intake. To develop the Tool-Kit, we used a Delphi study involving a working group of epidemiologists, neurologists, and content experts from North America and Europe. Results: The Tool-Kit includes six core variables to measure ETS, six to measure sun exposure, and six to measure vitamin D intake. The Tool-Kit can be accessed online ( www.maelstrom-research.org/mica/network/tool-kit ). Conclusion: The goals of the Tool-Kit are to enhance exposure measurement in newly designed pediatric MS studies and comparability of results across studies, and in the longer term to facilitate harmonization of studies, a methodological approach that can be used to circumvent issues of small sample sizes. We believe the Tool-Kit will prove to be a valuable resource to guide pediatric MS researchers in developing study-specific questionnaire

Imaging of depressive disorders

2020 ◽  
pp. 797-806
Author(s):  
Guy M. Goodwin ◽  
Michael Browning
Keyword(s):  
Depressive Disorders ◽  
Case Control ◽  
Structure And Function ◽  
Small Sample ◽  
Case Control Studies ◽  
Brain Structure And Function ◽  
Small Sample Sizes ◽  
And Function ◽  
Study Designs ◽  
And Control

Neuroimaging techniques have been used extensively to compare brain structure and function between patients with, or at risk of, depression and control subjects. The goal of this work has largely been to identify pathophysiological processes in depression. However, progress in this field has been limited by the heterogeneity of patient populations, the use of small sample sizes, and an overreliance on case-control studies. These limitations have increasingly been acknowledged with recent work collecting much larger samples and employing a variety of study designs, including those able to stratify patient populations. This chapter reviews imaging studies in depression, highlighting both outstanding questions and promising recent findings.

Epidemiology and Risk Factors of Humerus Fractures among Skiers and Snowboarders

2008 ◽  
Vol 36 (10) ◽  
pp. 1880-1888 ◽  
Author(s):  
Benjamin T. Bissell ◽  
Robert J. Johnson ◽  
Adam B. Shafritz ◽  
Derek C. Chase ◽  
Carl F. Ettlinger
Keyword(s):  
Risk Factors ◽  
Proximal Humerus ◽  
Similar Rate ◽  
Level Of Evidence ◽  
Helmet Use ◽  
Increased Risk ◽  
Humerus Fractures ◽  
And Gender ◽  
Left Humerus ◽  
Control Study

Background The incidence of humerus fractures while participating in snowboarding and skiing is undefined. Very little is known about the risk factors associated with these fractures. Hypothesis Snowboarders are at increased risk for sustaining humerus fractures when compared with skiers. In addition, the types of fractures, laterality, and risk factors differ between the 2 groups. Study Design Case-control study; Level of evidence, 3. Methods At a major ski area clinic, 318 humerus fractures were evaluated over 34 seasons. Radiographs were classified according to the AO and Neer systems. Patient data were analyzed and compared with that of a control population of uninjured skiers and snowboarders to determine incidence and risk factors. Results The incidence of humerus fractures among snowboarders (0.062 per 1000 snowboarder days) was significantly higher than that of skiers (0.041 per 1000, P < .05). Skiers were more likely to sustain proximal fractures, and snowboarders were relatively more likely to sustain diaphyseal and distal fractures ( P < .05). Of glenohumeral dislocations, 6.56% were associated with proximal humerus fractures among skiers (1.7% among snowboarders). Snowboarders who lead with their left foot were more likely to fracture their left humerus ( P = .023). Helmet use and gender were not risk factors for humerus fractures among either skiers or snowboarders. Jumping was involved in 28.3% of humerus fractures among snowboarders and in 5.4% among skiers. Skiers with humerus fractures were more skilled, older, and fell less frequently than controls. Snowboarders were less skilled, younger, and fell at a similar rate compared with controls. Conclusion Snowboarders are at significantly higher risk of sustaining humerus fractures than skiers. In skiers, humerus fractures show no laterality and most often involve the proximal humerus. In contrast, snowboarders more often fracture the left humerus at the diaphysis.

scholarly journals Brain Reorganization following Intervention in Children with Congenital Hemiplegia: A Systematic Review

2013 ◽  
Vol 2013 ◽  
pp. 1-8 ◽  
Author(s):  
E. Inguaggiato ◽  
G. Sgandurra ◽  
S. Perazza ◽  
A. Guzzetta ◽  
G. Cioni
Keyword(s):  
Cerebral Palsy ◽  
Brain Structure ◽  
Brain Plasticity ◽  
Experimental Studies ◽  
Case Series ◽  
Small Sample ◽  
Current Evidence ◽  
Level Of Evidence ◽  
Unilateral Cerebral Palsy ◽  
Small Sample Sizes

Noninvasive rehabilitation strategies for children with unilateral cerebral palsy are routinely used to improve hand motor function, activity, and participation. Nevertheless, the studies exploring their effects on brain structure and function are very scarce. Recently, structural neuroplasticity was demonstrated in adult poststroke patients, in response to neurorehabilitation. Our purpose is to review current evidence on the effects of noninvasive intervention strategies on brain structure or function, in children with unilateral cerebral palsy. The main literature databases were searched up to October 2013. We included studies where the effects of upper limb training were evaluated at neurofunctional and/or neurostructural levels. Only seven studies met our selection criteria; selected studies were case series, six using the intervention of the constraint-induced movement therapy (CIMT) and one used virtual reality therapy (VR). CIMT and VR seem to produce measurable neuroplastic changes in sensorimotor cortex associated with enhancement of motor skills in the affected limb. However, the level of evidence is limited, due to methodological weaknesses and small sample sizes of available studies. Well-designed and larger experimental studies, in particular RCTs, are needed to strengthen the generalizability of the findings and to better understand the mechanism of intervention-related brain plasticity in children with brain injury.

Genetic Mutations and Their Clinical Implications in Older Patients with Acute Myeloid Leukemia

2020 ◽  
pp. 1-7
Author(s):  
Xiaohong Xu ◽  
Shushu yuan ◽  
Pengcheng Xu ◽  
Zhirong Cong ◽  
Li Zhu ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Older Patients ◽  
Myeloid Leukemia ◽  
The Elderly ◽  
Genetic Alterations ◽  
Patient Specific ◽  
Genetic Mutations ◽  
Npm1 Mutation ◽  
Tp53 Mutations ◽  
Acute Myeloid

Objective：A number of leukemia-associated and patient-specific factors are related to the prognosis in older acute myeloid leukemia (AML) patients. In this study, we focus on the genetic mutations of older patients with AML and their impact on the clinical and prognosis. Methods: We retrospectively analysed the clinical, cytogenetic and laboratory data of 427 de novo non-M3 AML patients treated in our hospital from January 2000 to March 2014. We compared relevant mutations in 21 genes between AML patients aged 60 years or older and those younger and exposed their prognostic implications. Then clinical curative effect survival rate of patients in two groups was observed after followed-up. Results: Compared with the younger patients, the elderly had significantly higher incidences of PTPN11, NPM1, RUNX1, ASXL1, TET2, DNMT3A and TP53 mutations but a lower frequency of WT1 mutations. The older patients more frequently had one or more adverse genetic alterations. Multivariate analysis showed that DNMT3A and TP53 mutations were independent poor prognostic factors among the elderly, while NPM1 mutation in the absence of FLT3/ITD was an independent favorable prognostic factor. Furthermore, the status of mutations could well stratify older patients with intermediate-risk cytogenetic into three risk groups. Conclusion: Older AML patients showed distinct genetic alterations from the younger group. Integration of cytogenetic and molecular mutations can better risk-stratify older AML patients. Development of novel therapies is needed to improve the outcome of older patients with poor prognosis under current treatment.

A situation where hepatocellular carcinoma (HCC) may be more common in women than men: Clinical and genetic patterns of non risk-factored HCC.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. e15614-e15614
Author(s):  
Imane Hassan El Dika ◽  
James J. Harding ◽  
Marinela Capanu ◽  
Michael F. Berger ◽  
Dafna Rebibo ◽  
...  
Keyword(s):  
Risk Factors ◽  
Alcoholic Cirrhosis ◽  
Median Number ◽  
Genetic Alterations ◽  
Molecular Signature ◽  
Genetic Mutations ◽  
Cancer Genes ◽  
Illumina Hiseq ◽  
Genetic Sequencing

e15614 Background: Men are classically diagnosed with HCC three times more frequently than women. The gender difference persists after adjusting for confounding risk factors of viral hepatitis and alcoholic cirrhosis, presumably due to protective role of estrogens in women. In rare and unclear circumstances, HCC can arise in patients with no identified risk factor. Methods: Archival FFPE samples from patients with HCC and no underlying liver disease who consented to an IRB-approved protocol from 2014 onward were analyzed using the MSK-IMPACT platform, a hybridization capture based next generation sequencing assay for targeted deep sequencing of all exons and selected introns of > 400 key cancer genes. Tumor and matched normal libraries were sequenced on an Illumina HiSeq 2500. Sequencing output was processed using a custom analysis pipeline. Demographic and treatment data was prospectively collected. Fisher’s exact tests were performed to look for associations between clinical characteristics and genetic alterations. Results: 16 patients were identified with 12 (75%) women affected versus 4 men only. Median age at diagnosis was 64 years. 5 (21%) patients had concomitant other malignancy, being melanoma, lymphoma, mesothelioma, rectal and prostate adenocarcinoma. 75% of patients underwent upfront surgery while only 12% presented with metastatic disease. Median number of genetic mutations was 4. Genetic sequencing did not reveal a specific molecular signature in this subgroup of patients; TERT and CTNNB1 were the most commonly mutated genes, found in 37% of cases. Median follow-up was 20 months and all patients were alive at last follow-up. Conclusions: In contrast to HCC in the general population, we found that HCC in the absence of risk factors is diagnosed more commonly in women than men in this small cohort. Patients in this cohort appear to live longer which can be attributed to normal underlying liver function or different disease biology. The pattern and number of genetic mutations reported herein are not different from those previously reported in risk-factored HCC. The study of a larger cohort of this non-previously defined non-risk factored HCC is warranted.

The Camitz transfer and its modifications: a review

2016 ◽  
Vol 41 (6) ◽  
pp. 632-637 ◽  
Author(s):  
B. Rymer ◽  
P. B. M. Thomas
Keyword(s):  
Hand Function ◽  
Outcome Data ◽  
Small Sample ◽  
Abductor Pollicis Brevis ◽  
Level Of Evidence ◽  
Palmar Aponeurosis ◽  
Tunnel Syndrome ◽  
Palmaris Longus Tendon ◽  
Original Procedure ◽  
Small Sample Sizes

The Camitz procedure involves transfer of the insertion of the palmaris longus tendon with a strip of the palmar aponeurosis to the insertion of abductor pollicis brevis in order to improve thumb opposition, and is usually done when severe carpal tunnel syndrome results in complete wasting of the thenar muscles. We carried out a systematic review of the published reports of this procedure. Analysis of available outcome data showed improvement in overall hand function in 86–100% of patients undergoing the original Camitz procedure. Several modifications of the original Camitz transfer have been described, with most focusing on the incorporation and placement of pulleys. All studies are limited by their small sample sizes. Overall, there is a lack of studies comparing the Camitz transfer with other opponensplasty techniques and comparing the various modifications of the original procedure. Level of evidence: IV

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