bluuebunny/crossref_metadata_2025_split huggingface dataset:
Intermediate Phenotype between ADULT Syndrome and EEC Syndrome Caused by R243Q Mutation in TP63
Authors: Otsuki Yuki , Ueda Koichi , Satoh Chisei , Maekawa Ryuta , Yoshiura Koh-ichiro , Iseki Sachiko 
Published: December 2016

Summary:
A patient who had ectrodactyly, dry skin, exfoliative dermatitis, and hypodontia with peg-shaped teeth, but not cleft lip and palate, is described. Ectrodactyly with a tooth anomaly is recognized in both acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome and ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome. These 2 syndromes are caused by heterozygous mutations in the transcriptional factor gene p63. Mutation analysis of p63 gene showed a heterozygous mutation c.728G>A, p.Arg243Gln (previously referred to as R204Q) in the patient, but not in his parents. Therefore, this was a sporadic case of the p63 mutation–associated disorder. Although the mutation has been mostly reported in EEC syndrome patients, the present case did not have cleft lip and palate. Furthermore, the present case did not exhibit freckling or some of the other ectodermal dysplasia phenotypes typical of ADULT syndrome. The concept of ELA syndrome proposed by Prontera in 2011 resolves the problem confronted in diagnosing the present case. ELA syndrome is an acronym of EEC/limb–mammary syndrome/ADULT syndromes, and these 3 syndromes are united into a unique entity. This system can classify p63 mutation–associated disorders simply without interfering with treatment.
Facial Nerve Recovery in KbDb and C1q Knockout Mice: A Role for Histocompatibility Complex 1
Authors: Akdagli Seden , Williams Ryan A. , Kim Hyun J. , Yan Yuling , Mustapha Mirna , Most Sam P. 
Published: December 2016

Background:
Understanding the mechanisms in nerve damage can lead to better outcomes for neuronal rehabilitation. The purpose of our study was to assess the effect of major histocompatibility complex I deficiency and inhibition of the classical complement pathway (C1q) on functional recovery and cell survival in the facial motor nucleus (FMN) after crush injury in adult and juvenile mice.

Methods:
A prospective blinded analysis of functional recovery and cell survival in the FMN after a unilateral facial nerve crush injury in juvenile and adult mice was undertaken between wild-type, C1q knockout (C1q−/−), and KbDb knockout (KbDb−/−) groups. Whisker function was quantified to assess functional recovery. Neuron counts were performed to determine neuron survival in the FMN after recovery.

Results:
After facial nerve injury, all adult wild-type mice fully recovered. Juvenile mice recovered incompletely corresponding to a greater neuron loss in the FMN of juveniles compared with adults. The C1q−/− juvenile and adult groups did not differ from wild type. The KbDb−/− adults demonstrated 50% recovery of whisker movement and decreased cell survival in FMN. The KbDb−/− juvenile group did not demonstrate any difference from control group.

Conclusion:
Histocompatibility complex I plays a role for neuroprotection and enhanced facial nerve recovery in adult mice. Inhibition of the classical complement pathway alone does not affect functional recovery or neuronal survival. The alternative and mannose binding pathways pose alternative means for activating the final components of the pathway that may lead to acute nerve damage.
Autologous Fat Grafting for Treating Blepharoplasty-induced Lower Eyelid Retraction
Authors: Skippen Brent , Bernardini Francesco P. , Fezza John , Hartstein Morris E. 
Published: December 2016

Summary:
Autologous fat grafting for blepharoplasty-induced lower eyelid retraction offers potential for a long-term solution while avoiding the morbidity associated with posterior lamellar spacer grafts. By combining traditional methods of lifting the retracted lower eyelid with autologous fat grafting, both functional and aesthetic concerns can be successfully addressed in these patients.
Predictors of Cardiac Rehabilitation Initiation and Adherence in a Multiracial Urban Population
Authors: Zhang Lili , Sobolev Maria , Piña Ileana L. , Prince David Z. , Taub Cynthia C. 
Published: December 2016

BACKGROUND:
Lack of initiation and adherence to cardiac rehabilitation (CR) remains a persistent problem. We sought to examine predictors of initiation, adherence, and completion of CR in a unique, minority predominant, urban population.

METHODS:
We included all patients who were first-time referred to the outpatient CR program at Montefiore Medical Center between 1997 and 2010. The indications for referral included acute myocardial infarction, coronary artery disease, heart failure, stable angina, and valvular heart disease. Adherence was defined as attendance of at least 18 sessions of CR, and completion was defined as attendance of 36 sessions. Multivariable logistic regression was utilized to examine the predictors of initiation, adherence, and completion of CR.

RESULTS:
A total of 590 patients were included (43.9% white and 56.1% nonwhite patients). Among 400 patients who initiated CR, 229 patients (57.3%) attended at least 18 sessions and 140 patients (35.0%) completed all sessions. Initiation of CR was less likely in patients who were nonwhite (OR = 0.66; 95% CI: 0.44-0.97; P = .04) and those who lacked insurance (OR = 0.54; 95% CI: 0.29-0.83; P = .04). Older age was associated with better adherence (OR = 1.04; 95% CI: 1.02-1.07; P < .001). Requirement of a copayment (OR = 0.57; 95% CI: 0.37-0.87; P = .01) was associated with poor adherence.

CONCLUSION:
In a multiracial population, nonwhite patients and those who did not have insurance were less likely to initiate CR. Younger age and requirement of copayment were independent predictors for poor adherence. Increasing medical insurance coverage and eliminating copayment may improve the participation and adherence of CR.
Resistance Training With Ankle Weight Cuffs Is Feasible in Patients With Acute Exacerbation of COPD
Authors: Kofod Linette Marie , Døssing Martin , Steentoft Johnna , Kristensen Morten Tange 
Published: December 2016

PURPOSE:
Quadriceps muscle weakness is a serious complication of physical inactivity following hospitalization due to acute exacerbations of chronic obstructive pulmonary disease (AECOPD). Preventing strength loss during AECOPD is therefore a high priority. We aimed to evaluate the feasibility of progressive knee-extension resistance training, using ankle weight cuffs on patients with AECOPD, based on prespecified criteria for feasibility.

METHODS:
Thirty-four patients (18 men, mean age 74 years, forced expiratory volume in 1 second = 33% predicted) with AECOPD participated in daily knee-extension strength training. During training, the patients were seated on the bedside and performed 3 sets of 10-repetition maximum loads, using ankle weight cuffs. The primary outcome was the change in load from the first to last training sessions. The secondary outcomes were changes in maximal isometric knee-extension strength, the Sit-to-Stand (STS) and Timed Up and Go (TUG) tests.

RESULTS:
The training load increased progressively by a mean (standard deviation) of 54% ± 41% (when calculated on an individual basis), from a mean of 6.5 ± 3.3 to 9.2 ± 3.5 kg over the course of 5.6 ± 2.3 training days (P < .001). Knee-extension strength improved by a mean of 12% (P = .02), whereas the TUG and STS test performances improved by 11% (P = .001) and 19% (P = .03), respectively. Ninety-eight percent of the planned training sessions were completed with no side effects.

CONCLUSIONS:
Progressive resistance training with ankle weight cuffs is feasible in patients who are severely disabled due to AECOPD. The approach is simple and seems to counteract the loss of muscle strength and function during hospitalization.
An exploratory analysis for Lean and Six Sigma implementation in hospitals: Together is better?
Authors: Lee Jung Young , McFadden Kathleen L. , Gowen Charles R. 
Published: December 2016

Background:
Despite the increasing interest for Lean and Six Sigma implementations in hospitals, there has been little empirical evidence that goes beyond descriptive case studies to address the current status and the effectiveness of the implementations.

Purpose:
The aim of this study was to explore existing patterns of Lean and Six Sigma implementation in U.S. hospitals and compare the performance of the different patterns.

Methodology/Approach:
We collected data from 215 U.S. hospitals via a survey that includes measurement items developed from related literature. Using the cross-sectional data, we conducted a cluster analysis, followed by t tests, chi-square tests, and regression analyses for cluster verification.

Results:
The cluster analysis identifies two clusters, a Moderate Six Sigma group and a Lean Six Sigma group. Results show that the Lean Six Sigma group outperforms the Moderate Six Sigma group across many performance dimensions: responsiveness capability, patient safety, and possibly cost saving. In addition, the Lean Six Sigma group tends to be composed of larger, private teaching hospitals located in more urban areas, and they employ more resources for quality improvement.

Conclusion:
Our research contributes to the quality management literature by supporting the possible complementary relationship between Lean and Six Sigma in hospitals.

Practice Implications:
Our study encourages practitioners and managers to pay more attention to Lean implementation. Although Lean seems to be conducted in a limited fashion in many hospitals, it should be expanded and combined with Six Sigma for better results.
ASSOCIATION BETWEEN THE VITREOMACULAR INTERFACE AND OPTICAL COHERENCE TOMOGRAPHY CHARACTERISTICS IN WET AGE-RELATED MACULAR DEGENERATION
Authors: Ashraf Mohammed , Souka Ahmed , Adelman Ron A. 
Published: December 2016

Purpose:
To study the effect of the vitreomacular interface on various wet age-related macular degeneration (AMD) characteristics including the size and type of choroidal neovascularization (CNV), choroidal thickness, and activity of the CNV.

Methods:
This was a retrospective observational cross-sectional study. The study included 43 patients (51 eyes) with treatment-naive age-related macular degeneration. Twenty-six patients with wet AMD in one eye and dry AMD in the other eye were included in a paired-eye analysis. Patients underwent optical coherence tomography examination using Heidelberg Spectralis (spectral domain optical coherence tomography) at presentation to determine the type of CNV and the vitreomacular status. In addition, various parameters were measured including the choroidal thickness and horizontal width and vertical height measurements of the CNV.

Results:
There was no correlation between the height, width, activity or type of the CNV, and the presence or absence of vitreomacular adhesion. The mean choroidal thickness (using enhanced depth imaging) in cases with vitreomacular adhesion was 272.57 μm compared with 197.32 μm in cases with no vitreomacular adhesion, a statistically significant difference (P = 0.003). In the paired-eye study (21 patients), there was no significant difference between the eyes with wet AMD and dry AMD with regard to vitreomacular status or the choroidal thickness. In a subgroup analysis, patients with Type 1 CNV had a significantly higher percentage of vitreomacular adhesion compared with the other eye with dry AMD (P = 0.034).

Conclusion:
In conclusion, the vitreomacular interface does seem to be associated with an increased choroidal thickness in cases of wet AMD. Furthermore, the association between the vitreomacular interface and wet AMD is more significant for Type 1 CNV.
TWENTY-FIVE-GAUGE CANNULA–ASSISTED FINE-NEEDLE ASPIRATION BIOPSY OF CHOROIDAL MELANOMA
Authors: Singh Arun D. , Aziz Hassan A. , Pelayes David , Biscotti Charles V. 
Published: December 2016

Purpose:
To report cytopathological observations on the cells retrieved from the 25-G cannula used during prognostic transvitreal fine-needle aspiration biopsy of choroidal melanoma.

Methods:
Transvitreal fine-needle aspiration biopsy of choroidal melanoma was performed through a 25-G valved cannula. Twenty samples from 20 consecutive patients were obtained. Most tumors were treated with plaque radiation therapy (16/20, 80%) following standard clinical guidelines. Four enucleated globes (4/20, 20%) were subjected to a similar transvitreal biopsy before enucleation.

Results:
Cytopathological analysis of the cells retrieved from the cannula revealed the absence of any cells in 4 of 20 samples (20%). In the remaining 16 samples, definite melanoma cells and atypical cells (probable melanoma cells) were observed in 2 samples each (total 4, 25%). Histiocytes (4/16, 25%) and lymphocytes (1/16, 6%) were also observed. Thirteen samples (13/16, 81%) contained conjunctival epithelial epithelium. Prognostication could be performed on all fine-needle aspiration biopsy samples (20, 100%).

Conclusion:
Use of a 25-G valved cannula offers potential advantages by isolating the needle tract and by allowing retrieval of the contaminating cells without affecting the prognostic yield of the fine-needle aspiration biopsy sample.
UNILATERAL DIFFUSE UVEAL MELANOCYTIC PROLIFERATION
Authors: Spaide Richard F. 
Published: December 2016

Purpose:
To report a unilateral case of what is named bilateral diffuse uveal melanocytic proliferation and consider the consequences of this finding.

Methods:
The ocular findings were investigated with multimodal imaging to include color fundus photography, fluorescein angiography, autofluorescence imaging, and enhanced depth imaging optical coherence tomography.

Results:
A 66-year-old woman had a history of breast cancer 23 years previously that was treated and the patient was free of disease since. She developed a recent decrease in visual acuity in her left eye prompting referral. She was seen to have an alteration in the pigmentation of the posterior pole of the left eye with dispersed red placoid spots. Autofluorescence imaging showed nummular areas of absent autofluorescence signal, which corresponded to areas of hyperfluorescence during fluorescein angiography. The placoid spots were hyperautofluorescent and hypofluorescent in autofluorescence and fluorescein angiography, respectively. She had diffuse thickening and infiltration of the choroid in the left eye. Because of the ocular findings, the patient underwent a systemic evaluation and was found to have widely metastatic disease with an unknown primary cancer. No progression of disease was seen in the left eye over a 6-month follow-up, and the right eye never showed any abnormality, except for a modest cataract, by any means of examination.

Conclusion:
Bilateral uveal melanocytic proliferation has been attributed to a paraneoplastic process, allegedly from a factor in the IgG fraction of the serum. However, unilateral involvement suggests that there are other factors involved in disease manifestation.
Trimodality therapy for resectable gastric cancer: analysis of the benefit in radiation
Authors: Thind Balkarn S. , Mullen Thomas D. , Healy Erin , Serrano Nicholas , Christensen Diana M. , Miller Trevor T. , Zeng Jing , Oelschlager Brant K. , Patel Shilpen A. 
Published: December 2016

Background:
Gastric cancer is a common cause of cancer mortality worldwide, and due to its often advanced stage at the time of diagnosis, surgery alone is often inadequate treatment. Both chemotherapy (CH) and chemoradiation therapy (CHR) are used in the adjuvant setting and are both supported by randomized clinical trials. In this report, we compare the overall survival (OS), disease-free survival (DFS), and treatment toxicities of multimodal therapy with and without radiation.

Patients and methods:
Data from 193 patients diagnosed with stage IB-III gastric cancer treated with surgery (S group), surgery plus chemotherapy (S+CH group), or surgery plus chemoradiation (S+CHR group) were retrospectively analyzed. OS, DFS, and toxicities were compared in the various treatment modalities.

Results:
The S+CH (N=69) and S+CHR group (N=92) both had significant reduction in hazard ratio (HR) of death (HR, 0.24; P<0.001; HR, 0.33; P<0.001, respectively) when compared with the S group (N=32). Although S+CHR showed no significant benefit in OS or DFS (P=0.73, 0.16, respectively) when compared with S+CH, in a subgroup of patients with clinically lymph node–positive disease, S+CHR had significant improvement in DFS (HR, 1.83; P=0.047). Significantly higher rates of esophagitis were observed in the S+CHR, but no significant difference in grade 3 to 4 hematologic toxicities. One treatment related death was recorded in S+CH from postsurgical grade 5 sepsis. The clinical nodal classification was borderline significantly different between the S+CH and S+CHR groups (P=0.05) with a greater percentage of the S+CHR group being node positive.

Conclusions:
Multimodal therapy was associated with improved OS in our report when compared with surgery alone. Although patients who received CHR along with surgery did not have a significant difference in OS or DFS when compared with those receiving only chemotherapy with surgery, there was a difference in DFS in those patients who were clinically lymph node positive.
Primary surgical treatment of locally advanced breast cancer with heavy nodal involvement: a case report
Authors: Weledji Elroy P. , Elong Felix A. 
Published: December 2016

Introduction:
Locally advanced breast cancer remains an important clinical problem, particularly in resource-poor settings. The prevalence is high in developing countries because of minimal breast awareness programmes, neglect, and the limited use of the multidisciplinary approach in management. Neoadjuvant chemotherapy is the mainstay of management, but the question as to whether primary surgical care could be used in resource-poor settings is of certain value and interest.

Case presentation:
We present the case of a 42-year-old African woman with a locally advanced carcinoma of the right breast and heavy nodal involvement only (T3, N2, M0). She underwent a simple mastectomy with en bloc lymphadenectomy to level II (axillary vein) followed by adjuvant radiotherapy to the mastectomy bed and systemic chemotherapy. There was no clinical evidence of local recurrence or distant metastases at 2 years’ follow-up.

Conclusions:
Primary surgical treatment may be acceptable in selected patients with locally advanced breast cancer. Further studies in the form of a clinical trial would ascertain the beneficial role of surgery in locally advanced breast cancer, especially in resource-poor settings.
Relationship of the Middle Ear Effusion Microbiome to Secretory Mucin Production in Pediatric Patients With Chronic Otitis Media
Authors: Krueger Anna , Val Stéphanie , Pérez-Losada Marcos , Panchapakesan Karuna , Devaney Joe , Duah Vanessa , DeMason Christine , Poley Marian , Rose Mary , Preciado Diego 
Published: December 2016

Background:
Acute otitis media, an infection of the middle ear, can become chronic after multiple episodes. Microbial influence on chronic otitis media remains unclear. It has been reported that mucin glycoproteins are required for middle ear immune defense against pathogens. We aim to characterize the middle ear effusion (MEE) microbiome using high-throughput sequencing and assess potential associations in microbiome diversity with the presence of the secretory mucins MUC5B and MUC5AC. We hypothesize that MEEs containing MUC5B will exhibit a microbiome largely devoid of typical acute otitis media bacteria.

Methods:
Fifty-five MEEs from children undergoing myringotomy at Children’s National Health System were recovered. Mucin was semiquantitatively determined through Western blot analysis. DNA was subjected to 16S rRNA amplicon sequencing using the Illumina MiSeq platform. Raw data were processed in mothur (SILVA reference database). Alpha- and beta-diversity metrics were determined. Abundance differences between sample groups were estimated.

Results:
MUC5B was present in 94.5% and MUC5AC in 65.5% of MEEs. Sequencing revealed 39 genera with a relative abundance ≥0.1%. Haemophilus (22.54%), Moraxella (11.11%) and Turicella (7.84%) were the most abundant. Turicella and Pseudomonas proportions were greater in patients older than 24 months of age. In patients with hearing loss, Haemophilus was more abundant, while Turicella and Actinobacteria were less abundant. Haemophilus was also more abundant in samples containing both secretory mucins.

Conclusions:
The microbiome of MEEs from children with chronic otitis media differs according to specific clinical features, such as mucin content, age and presence of hearing loss. These associations provide novel pathophysiologic insights across the spectrum of otitis media progression.
Clinical and Virus Surveillance After the First Wheezing Episode
Authors: Turunen Riitta , Vuorinen Tytti , Bochkov Yury , Gern James , Jartti Tuomas 
Published: December 2016

Background:
Susceptibility to rhinovirus (RV)-induced early wheezing episode has been recognized as an important risk factor for asthma, but the data on different RV species are limited. Our aim was to investigate the risk for recurrences in first-time wheezing children with special focus on RV species.

Methods:
First-time wheezing children (88 inpatients and 23 outpatients) were prospectively followed at 2-week, 2-month and 12-month time-points, and at first recurrence within 12 months. The respiratory virus etiology was analyzed using polymerase chain reaction. RV-positive samples were sequenced. The primary outcomes were time to a new physician-confirmed wheezing episode, time to a new RV-induced wheezing episode and time to the initiation of regular controller medication for asthma symptoms.

Results:
The median age of the children was 12 months (standard deviation, 6.0), 67% were males and 23% were sensitized. RV dominated in symptomatic and asymptomatic infections. Different RV strains were observed in 97% (67/69) of consecutive samples during follow-up. First-time wheezing children with RV-C and RV-A had an increased risk for a new physician-confirmed wheezing episode and a new RV-associated wheezing episode than non-RV group (all P < 0.05). Also, the risk for the initiation of regular controller medication was increased in RV-A and RV-C groups when compared with non-RV group (both P < 0.05).

Conclusions:
RV causes reinfections with different strains in small children after the first wheezing episode. Both RV-A and RV-C affected children have an increased risk for recurrence, especially RV associated, and initiation of regular controller medication than those with other viruses.