scholarly journals Schmid Type Metaphyseal Chondrodysplasia in a Large Single Genetic Lineage

2021 ◽  
Vol 3 (1) ◽  
pp. 1-8
Author(s):  
David Michaeli ◽  
Ravi Rajendra ◽  
Daniel C. Kim ◽  
Michael D. Goodlett ◽  
John R. Humphries ◽  
...  
Keyword(s):  
Clinical Decision Making ◽  
Treatment Options ◽  
Clinical Decision ◽  
Background Information ◽  
Coxa Vara ◽  
Genetic Lineage ◽  
Large Sample Size ◽  
Primary Defect ◽  
Neck Shaft Angle ◽  
Metaphyseal Chondrodysplasia

Several subtypes of metaphyseal chondrodysplasia exist, of which the Schmid type is the most common. Characteristics include short limbed dwarfism, coxa vara, genu vara, and waddling gait. Skull, spine, and upper extremity involvement is minimal and often nonexistent. The primary defect involves a mutation affecting the metaphyseal portion of the growth plate, while the epiphysis is normal. A large single lineage family with metaphyseal chondrodysplasia, Schmid type (MCDS) was investigated. A genetic pedigree of 135 members of this family showed autosomal dominant inheritance between all 42 affected members. The large sample size allowed for the characterization of a broad range of features present in cases of MCDS. The majority of affected patients exhibited coxa vara with an average neck/shaft angle of 105 degrees. Despite coxa vara, premature osteoarthritis of the hip is not a feature of MCDS. Genu varum is the most prevalent knee disorder in this group, but greater than 30% of patients may exhibit genu valgum. This manuscript highlights MCDS background information, differential diagnoses, treatment options, and prognosis to aid in clinical decision-making.

Clinical Decision Making on Extensive Molar Restorations

2014 ◽  
Vol 39 (6) ◽  
pp. E231-E240 ◽  
Author(s):  
T Laegreid ◽  
NR Gjerdet ◽  
A Johansson ◽  
A-K Johansson
Keyword(s):  
Decision Making ◽  
Clinical Decision Making ◽  
Dietary Habits ◽  
Influencing Factor ◽  
Treatment Options ◽  
Clinical Decision ◽  
Background Information ◽  
Molar Teeth ◽  
Logistic Regressions ◽  
Indirect Technique

SUMMARY Extensive loss of posterior tooth substance, which traditionally was restored with amalgam or indirect restorations, is more commonly being restored with resin-based composite restorations. Using a questionnaire, we aimed to survey dentists' clinical decision making when restoring extensive defects in posterior molar teeth. The questionnaire, which included questions on background information from the dentists, clinical cases with treatment options, and general questions about restoring extensive posterior defects, was sent to 476 dentists. The response rate was 59%. Multiple logistic regressions were used to investigate the different associations. Most of the respondents preferred a direct composite restoration when one cusp was missing, while indirect restorations were most preferred when replacing three or four cusps. Younger dentists and dentists working in the private sector had a greater tendency to choose an indirect technique compared with older colleagues. Generally, the most important influencing factor in clinical decision making was the amount of remaining tooth substance. Factors that appeared to be less important were dental advertisements, use of fluoride, and dietary habits. Female dentists perceived factors such as oral hygiene, patient requests, and economy to be more important than did their male colleagues.

Management of thoracic aortic lesions - the future is endovascular

VASA ◽  
2012 ◽  
Vol 41 (3) ◽  
pp. 163-176 ◽  
Author(s):  
Weidenhagen ◽  
Bombien ◽  
Meimarakis ◽  
Geisler ◽  
A. Koeppel
Keyword(s):  
Thoracic Aorta ◽  
Clinical Decision Making ◽  
Treatment Options ◽  
Clinical Decision ◽  
Clinical Results ◽  
Treatment Modalities ◽  
Traumatic Rupture ◽  
Descending Thoracic Aorta ◽  
New Treatment ◽  
Aneurysm Dissection

Open surgical repair of lesions of the descending thoracic aorta, such as aneurysm, dissection and traumatic rupture, has been the “state-of-the-art” treatment for many decades. However, in specialized cardiovascular centers, thoracic endovascular aortic repair and hybrid aortic procedures have been implemented as novel treatment options. The current clinical results show that these procedures can be performed with low morbidity and mortality rates. However, due to a lack of randomized trials, the level of reliability of these new treatment modalities remains a matter of discussion. Clinical decision-making is generally based on the experience of the vascular center as well as on individual factors, such as life expectancy, comorbidity, aneurysm aetiology, aortic diameter and morphology. This article will review and discuss recent publications of open surgical, hybrid thoracic aortic (in case of aortic arch involvement) and endovascular repair in complex pathologies of the descending thoracic aorta.

A Comparison of GFR Estimation Formulae in Pediatric Oncology

2018 ◽  
Vol 230 (03) ◽  
pp. 142-150
Author(s):  
Tobias Rechenauer ◽  
Jakob Zierk ◽  
Daniel Gräfe ◽  
Wolfgang Rascher ◽  
Manfred Rauh ◽  
...  
Keyword(s):  
Cystatin C ◽  
Clinical Decision Making ◽  
Estimating Equations ◽  
Clinical Decision ◽  
Chemotherapeutic Agents ◽  
Laboratory Method ◽  
Background Information ◽  
Data Set ◽  
Therapeutic Consequences ◽  
Gfr Estimation

Abstract Background Application of potentially nephrotoxic chemotherapy requires continuous monitoring of renal function for toxicity and dosing. Novel pediatric glomerular filtration rate (GFR) estimating equations including cystatin C have been proposed to enhance the reliability of GFR calculation. Materials and methods We examined a pediatric oncologic data set with a total of 363 GFR measurements. An analysis of distribution characteristics and comparison of medians was performed to compare creatinine and cystatin C-based GFR estimating formulae. Furthermore, we investigated the clinical impact of different equations in regard to therapeutic consequences. Results Significant differences in estimated GFR values were calculated depending on the applied formula (range of median GFR from 94.8 to 180.9 mL/min per 1.73 m2) which may result in different therapeutic consequences for the use of potentially nephrotoxic chemotherapeutic agents. Significant correlation for all examined formulae was identified, however there were large fluctuations among the correlation coefficients ranging from 0.254 to 1.0. Conclusion This study compares proposed pediatric GFR estimating equations in a clinical setting. It underlines the current limitations and difficulties of GFR estimation including potential dosing errors. Cystitis C-based equations can be used as alternatives to creatinine-based estimations when the appropriate laboratory method has been applied. A comparative calculator for pediatric GFR estimating equations along with background information is provided at http://gfr.pedz.de and may support clinical decision-making.

Aortoiliac Reconstruction

2017 ◽  
Author(s):  
Mark K. Eskandari ◽  
Michael J Nooromid
Keyword(s):  
Clinical Decision Making ◽  
Preoperative Evaluation ◽  
Treatment Options ◽  
Surgical Techniques ◽  
Clinical Decision ◽  
Occlusive Disease ◽  
Aortobifemoral Bypass ◽  
Aortoiliac Occlusive Disease ◽  
Atherosclerotic Occlusive Disease ◽  
Aortoiliac Reconstruction

This review outlines the preoperative evaluation, clinical decision making, and surgical treatment options for patients with aortoiliac occlusive disease. It also details the open surgical techniques for the treatment of aortoiliac occlusive disease and reviews endovascular treatment options. The discussion of treatment options includes the potential complications and expected outcomes, as well as steps that can be taken to optimize surgical results. Key words: aortobifemoral bypass, aortoiliac reconstruction, atherosclerotic occlusive disease, endovascular reconstruction, femoral endarterectomy, iliac angioplasty, iliac stenting, peripheral vascular disease 

Neuralgic amyotrophy: a paradigm shift in diagnosis and treatment

2020 ◽  
Vol 91 (8) ◽  
pp. 879-888 ◽  
Author(s):  
Clemens Gstoettner ◽  
Johannes A Mayer ◽  
Stephanie Rassam ◽  
Laura A Hruby ◽  
Stefan Salminger ◽  
...  
Keyword(s):  
High Resolution ◽  
Peripheral Nerve ◽  
Clinical Decision Making ◽  
Current Knowledge ◽  
Treatment Options ◽  
Treatment Algorithm ◽  
Clinical Decision ◽  
Neuralgic Amyotrophy ◽  
Positive Effects ◽  
Nerve Surgery

Neuralgic amyotrophy (NA), also known as Parsonage-Turner syndrome, is characterised by sudden pain attacks, followed by patchy muscle paresis in the upper extremity. Recent reports have shown that incidence is much higher than previously assumed and that the majority of patients never achieve full recovery. Traditionally, the diagnosis was mainly based on clinical observations and treatment options were confined to application of corticosteroids and symptomatic management, without proven positive effects on long-term outcomes. These views, however, have been challenged in the last years. Improved imaging methods in MRI and high-resolution ultrasound have led to the identification of structural peripheral nerve pathologies in NA, most notably hourglass-like constrictions. These pathognomonic findings have paved the way for more accurate diagnosis through high-resolution imaging. Furthermore, surgery has shown to improve clinical outcomes in such cases, indicating the viability of peripheral nerve surgery as a valuable treatment option in NA. In this review, we present an update on the current knowledge on this disease, including pathophysiology and clinical presentation, moving on to diagnostic and treatment paradigms with a focus on recent radiological findings and surgical reports. Finally, we present a surgical treatment algorithm to support clinical decision making, with the aim to encourage translation into day-to-day practice.

A Multiscale Specimen-Specific Data Set to Enable Comprehensive Modeling and Simulation of the Tibiofemoral Joint

2013 ◽  
Author(s):  
Snehal Chokhandre ◽  
Ahmet Erdemir
Keyword(s):  
Clinical Decision Making ◽  
Mechanical Response ◽  
Multiple Scales ◽  
Treatment Options ◽  
Complex Structure ◽  
Clinical Decision ◽  
Fe Analysis ◽  
Data Set ◽  
Tibiofemoral Joint ◽  
Joint Biomechanics

The tibiofemoral joint is a complex structure and its overall mechanical response is dictated by its numerous substructures at both macro and micro levels. An in-depth understanding of the mechanics of the joint is necessary to develop preventative measures and treatment options for pathological conditions and common injuries. Finite element (FE) analysis is a widely used tool in joint biomechanics studies focused on understanding the underlying mechanical behavior at joint, tissue and cell levels [1]. Studies, regardless of their purpose (descriptive or predictive), when employing FE analysis, require anatomical and mechanical data at single or multiple scales. It is also critical that FE representations are validated and closely represent specifics of the joint of interest, anatomically and mechanically. This is an utmost need if these models are intended to be used to support clinical decision making (in surgery or for rehabilitation) and for the development of implants.

scholarly journals Orthodontic treatment time: can it be shortened?

2018 ◽  
Vol 23 (6) ◽  
pp. 90-105 ◽  
Author(s):  
Ricardo Moresca
Keyword(s):  
Orthodontic Treatment ◽  
Clinical Decision Making ◽  
Tooth Movement ◽  
Treatment Time ◽  
Treatment Options ◽  
Clinical Decision ◽  
Orthodontic Appliances ◽  
Factors Influencing ◽  
Determining Factors ◽  
Major Factors

Abstract Introduction: In the literature, no consensus has been reached about orthodontic treatment time. Similarly, the determining factors of the latter have not yet been completely elucidated. Objective: The aim of the present article was to deepen the discussion on the major factors influencing orthodontic treatment time, as well as to present some strategies that have proven effective in controlling and shortening it. Method: Based on evidences found in the literature, the method focussed in providing the basis for clinical decision-making. Conclusions: Treatment time varies according to the type of malocclusion and treatment options. Orthodontist’s influence, patient’s characteristics and compliance are all decisive in determining treatment time, while the effects provided by orthodontic appliances and methods used to speed tooth movement up seem little effective.

scholarly journals Influence of psychiatric or social backgrounds on clinical decision making: a randomized, controlled multi-centre study

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Yosuke Yamauchi ◽  
Takashi Shiga ◽  
Kiyoshi Shikino ◽  
Takahiro Uechi ◽  
Yasuaki Koyama ◽  
...  
Keyword(s):  
Decision Making ◽  
Repeated Measures ◽  
Clinical Decision Making ◽  
Clinical Decision ◽  
Background Information ◽  
Accuracy Score ◽  
Multi Centre Study ◽  
Additional Information ◽  
Free Care ◽  
History Of

Abstract Background Frequent and repeated visits from patients with mental illness or free medical care recipients may elicit physicians’ negative emotions and influence their clinical decision making. This study investigated the impact of the psychiatric or social background of such patients on physicians’ decision making about whether to offer recommendations for further examinations and whether they expressed an appropriate disposition toward the patient. Methods A randomized, controlled multi-centre study of residents in transitional, internal medicine, or emergency medicine was conducted in five hospitals. Upon randomization, participants were stratified by gender and postgraduate year, and they were allocated to scenario set 1 or 2. They answered questions pertaining to decision-making based on eight clinical vignettes. Half of the eight vignettes presented to scenario set 1 included additional patient information, such as that the patient had a past medical history of schizophrenia or that the patient was a recipient of free care who made frequent visits to the doctor (biased vignettes). The other half included no additional information (neutral vignettes). For scenario set 2, the four biased vignettes presented to scenario set 1 were neutralized, and the four neutral vignettes were rendered biased by providing additional information. After reading, participants answered decision-making questions regarding diagnostic examination, interventions, or patient disposition. The primary analysis was a repeated-measures ANOVA on the mean management accuracy score, with patient background information as a within-subject factor (no bias, free care recipients, or history of schizophrenia). Results A total of 207 questionnaires were collected. Repeated-measures ANOVA showed that additional background information had influence on mean accuracy score (F(7, 206) = 13.84, p <  0.001 partial η2 = 0.063). Post hoc pairwise multiple comparison test, Sidak test, showed a significant difference between schizophrenia and no bias condition (p <  0.05). The ratings for patient likability were lower in the biased vignettes compared to the neutral vignettes, which was associated with the lower utilization of medical resources by the physicians. Conclusions Additional background information on past medical history of schizophrenia increased physicians’ mistakes in decision making. Patients’ psychiatric backgrounds should not bias physicians’ decision-making. Based on these findings, physicians are recommended to avoid being influenced by medically unrelated information.

scholarly journals How Much? How Frequent? How Long? A Clinical Guide to New Therapies in Myelodysplastic Syndromes

Hematology ◽  
2010 ◽  
Vol 2010 (1) ◽  
pp. 314-321 ◽  
Author(s):  
William Blum
Keyword(s):  
Quality Of Life ◽  
Myelodysplastic Syndromes ◽  
Clinical Decision Making ◽  
Treatment Options ◽  
Clinical Decision ◽  
Clinical Results ◽  
Improve Quality ◽  
Substantial Impact ◽  
History Of

AbstractAdvances in the treatment of myelodysplastic syndromes (MDSs) over the last decade have given patients and their hematologists a multitude of treatment options. Therapeutic options now exist that reduce disease-related symptoms, improve quality of life, and alter the natural history of the disease. Three drugs are now specifically Food and Drug Administration-approved for treatment of MDS: (1) azacitidine, (2) decitabine, and (3) lenalidomide. Clinical results with each of these agents, plus results with immunosuppressive therapy, are reviewed to guide clinical decision making. Although each therapy has made a substantial impact in improving the care of patients with MDS, unfortunately MDS treatment in 2010 ultimately fails in most patients, but these therapies provide a foundation on which we can build to further improve outcomes.

Mutation landscape of Chinese melanoma patients.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. 9563-9563
Author(s):  
Fuxue Huang ◽  
Dandan Li ◽  
Xizhi Wen ◽  
Fang Wang ◽  
Xiaoshi Zhang ◽  
...  
Keyword(s):  
Cutaneous Melanoma ◽  
Clinical Decision Making ◽  
Treatment Options ◽  
Clinical Decision ◽  
Genomic Profiling ◽  
Primary Tumors ◽  
Positive Correlation ◽  
Mutation Burden ◽  
Frequent Mutations ◽  
Melanoma Patients

9563 Background: Treatment options for melanoma, which has the highest mutation burden among common cancers, has proliferated in the past decade. Genomic profiling has becoming essential to clinical decision making. However, limited studies have interrogated the genomic landscape of Chinese melanoma patients. We also investigated the correlation between tumor mutation burden (TMB) and clinical outcomes of immunotherapy (IO). Methods: In this study, we retrospectively surveyed the genomic profiling of primary tumors of 81 (40 males, 41 females) metastatic Chinese melanoma patients with a median age of 52, using a panel consisting of 295 cancer-related genes, spanning 2.02MB of human genome. Patients used IO as first line treatment (n = 25) were enrolled for survival analyses. Results: In this cohort, 15, 24 and 42 were acral, mucosal and cutaneous melanoma, respectively. Collectively, we identified 1,114 mutations, spanning 248 genes, with BRAF, MYC and NBN being the most frequently mutated genes, occurring in 40%, 27% and 21% of patients, respectively. Mutation spectrum varied significantly by subtypes. BRAF (57%) and LRP1B (26%) were the most frequently mutated genes in cutaneous melanoma (CM). KIT and NRAS, reported to be frequently mutated in CM, each occurred in only 12% patients in this cohort. MYC amplification was the most commonly seen mutation in acral and mucosal melanoma (MM). Other frequent mutations in MM included: NBN (38%) RUNX1T1(29%) and TP53 (29%). In acral melanoma (AM), CCND1, FGF3/19, NF1and NBN were frequently mutated. It is interesting to note that no TP53 mutation was observed in AM. AM and MM had significantly more CNVs than CM. Of the 25 patients underwent IO, our data revealed a positive correlation between TMB and PFS (p = 0.007). Such correlation also exited in each subtype. Furthermore, we derived a cutoff of 15, which can effectively distinguish clinical response. Patients with TMB > 15 mut/Mb had a significantly longer PFS than patients harboring TMB < 15 mut/Mb (P = 0.02). Patients with CM had a longer PFS than patients with AM or MM (p = 0.018). No correlation between PDL1 expression and PFS was observed. Conclusions: Our study revealed a distinctive mutation landscape for each subtype. Furthermore, we also revealed a positive correlation between TMB and PFS as well as a lack of correlation between PDL1 expression and PFS.

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