bluuebunny/crossref_metadata_2025_split huggingface dataset:
A Simple Approach for the Repair of Intermediate-to-Large Cheek Defects
Authors: Qiao Congzhen , Zou Yun , Qiu Yajing , Lin Xiaoxi 
Published: September 2019

Background
Surgical management of cheek congenital melanocytic nevus (CMN) remains a huge challenge because of undesirable defects in repair. The use of direct closure is often limited to defect reconstruction with a diameter less than 4 cm.

Objective
This study aimed to evaluate the safety and efficacy of direct vertical closure combined with extensive subcutaneous tissue undermining boundaries for intermediate-to-large cheek defects.

Methods and Materials
A retrospective review was conducted to evaluate patients with cheek CMN who underwent the aforementioned procedure. Projected adult size, defect size, and incision length were measured. The Vancouver scar scale and visual analog scale were applied to assess scar formation and postoperative appearance. Complications within 1 year postoperatively were recorded.

Results
A total of 35 patients with CMN >3.5 cm underwent the procedure. Patients' age ranged from 3 to 36 years. The average projected adult size of the facial CMN was 5.5 ± 1.6 cm. The mean Vancouver scar scale and visual analog scale scores were 2.6 ± 1.0 and 8.0 ± 0.7, respectively. There were 2 cases of dog ear deformity (5.7%) and 1 case of hematoma (2.9%).

Conclusion
This simple algorithm yields satisfying results with low complication rate in the repair of intermediate-to-large cheek defects and may become a useful alternative to cheek reconstruction.
Refining the Latissimus Dorsi Flap
Authors: Maselli Amy M. , Mella Juan Rodolfo , Guo Lifei 
Published: September 2019

Abstract
The latissimus dorsi flap has been used to reconstruct mastectomy defects for more than 100 years. It has remained relevant in breast reconstruction because of its consistent anatomy, robust vascular supply, congruent vector, and ability to cover large surface areas. With the evolution of oncologic and reconstructive techniques as well as improvements in prosthetic devices, however, this myocutaneous flap has largely fallen out of favor in primary breast reconstruction. Our experience demonstrates that the latissimus dorsi flap remains a versatile flap that may be tailored to reconstruct various oncologic breast defects and deformities in an expeditious fashion.
Treatment of Congenital Melanocytic Nevi in the Eyelid and Periorbital Region With Ablative Lasers
Authors: Gu Yifei , Chang Shih-jen , Ma Gang , Wang Yungying , Zhu Jiafang , Chen Hui , Lin Xiaoxi 
Published: September 2019

Background
Congenital melanocytic nevi (CMN) that occur on the eyelid and periorbital region cause cosmetic disfiguring. Laser treatment has aroused interest as an alternative treatment method, and resurfacing lasers have shown promising results.

Objective
This study aimed to evaluate the efficacy and safety of carbon dioxide laser and erbium:yttrium aluminum garnet laser to treat CMN of the eyelid and periorbital region.

Methods and Materials
Twenty patients with CMN were included in this study and were treated with either the CO2 or erbium:yttrium aluminum garnet laser. Clinical efficacy outcomes were evaluated by visual assessment and L*a*b* color space evaluation at least 6 months after treatment.

Results
The average (SD) visual evaluation improvement, assessed on a 5-point scale, was 2.8 (1.27). The mean (SD) values of the relative L* improvement rate and blanching rate of the CMN lesion were 32.0% (47.9%) and 34.1% (36.2%), respectively. Spearman rank correlation coefficient between the objective and subjective evaluations was significant (P < 0.001). Three cases developed partial hypopigmentation. No patient developed hypertrophic scars.

Conclusion
The outcomes after laser treatment were variable, although half of the patients achieved greater than 50% clearance. It provides an alternative to surgical excision for the removal of CMN in the difficult regions. Surgery excision is inevitable for some patients.
Evidence for Healing Diabetic Foot Ulcers With Biologic Skin Substitutes
Authors: Gordon Alex J. , Alfonso Allyson R. , Nicholson Joey , Chiu Ernest S. 
Published: September 2019

BackgroundDevelopment of diabetic foot ulcers is a common complication of diabetes. Standard-of-care (SOC) therapy alone is often not sufficient to heal these wounds, resulting in application of adjuvant wound therapies including biologic skin substitutes. Although a variety of products exist, it has been difficult to formulate conclusions on their clinical efficacy. We therefore performed a systematic review and meta-analysis on the efficacy of healing diabetic foot ulcers with biologic skin substitutes.MethodsA systematic review was conducted in accordance with PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses). Four electronic databases (PubMed/MEDLINE, EMBASE [Ovid], Cochrane CENTRAL [Ovid], and Web of Science) were searched from inception through February 27, 2019. Searches included keywords and subject headings pertaining to 3 main concepts: biologic skin substitutes, wound healing, and diabetic foot ulcers. Cochrane randomized controlled trial filters were used to narrow results. Data were extracted from 54 included articles, and risk-of-bias assessments were conducted by 2 independent reviewers. The primary objective was to calculate a pooled risk ratio for the proportion of wounds completely closed by 12 weeks. Secondary objectives included a pooled risk ratio for the proportion of wounds completely closed by 6 weeks and mean time to healing.ResultsTwenty-five studies were identified that assessed the proportion of complete wound closure by 12 weeks. We found that wounds treated with biologic dressings were 1.67 times more likely to heal by 12 weeks than those treated with SOC dressings (P< 0.00001). Five studies assessed the proportion of complete wound closure by 6 weeks. Wounds treated with biologic dressings were 2.81 times more likely to heal by 6 weeks than those treated with SOC dressings (P= 0.0001). Descriptively, 29 of 31 studies that assessed time to healing favored biologic dressings over SOC dressings.ConclusionsThis systematic review provides supporting evidence that biologic skin substitutes are more effective than SOC dressings at healing diabetic foot ulcers by 12 weeks. Future studies must address the relative benefits of different skin substitutes as well as the long-term implications of these products and their financial considerations.
Frequency of the TREM2 R47H Variant in Various Neurodegenerative Disorders
Authors: Ayer Ariane H. , Wojta Kevin , Ramos Eliana Marisa , Dokuru Deepika , Chen Jason A. , Karydas Anna M. , Papatriantafyllou John D. , Agiomyrgiannakis Dimitrios , Kamtsadeli Vasiliki , Tsinia Niki , Sali Dimitra , Gylys Karen H. , Agosta Federica , Filippi Massimo , Small Gary W. , Bennett David A. , Gearing Marla , Juncos Jorge L. , Kramer Joel , Lee Suzee E. , Yokoyama Jennifer S. , Mendez Mario F. , Chui Helena , Zarow Chris , Ringman John M. , Kilic Ulkan , Babacan-Yildiz Gülsen , Levey Allan , DeCarli Charles S. , Cotman Carl W. , Boxer Adam L. , Miller Bruce L. , Coppola Giovanni 
Published: September 2019

Objective:
A rare variant in TREM2 (p.R47H, rs75932628) has been consistently reported to increase the risk for Alzheimer disease (AD), while mixed evidence has been reported for association of the variant with other neurodegenerative diseases. Here, we investigated the frequency of the R47H variant in a diverse and well-characterized multicenter neurodegenerative disease cohort.

Methods:
We examined the frequency of the R47H variant in a diverse neurodegenerative disease cohort, including a total of 3058 patients clinically diagnosed with AD, frontotemporal dementia spectrum syndromes, mild cognitive impairment, progressive supranuclear palsy syndrome, corticobasal syndrome, or amyotrophic lateral sclerosis and 5089 control subjects.

Results:
We observed a significant association between the R47H variant and AD, while no association was observed with any other neurodegenerative disease included in this study.

Conclusions:
Our results support the consensus that the R47H variant is significantly associated with AD. However, we did not find evidence for association of the R47H variant with other neurodegenerative diseases.
A Survey of Turkish Nurses' Knowledge of Incontinence-Associated Dermatitis
Authors: Şahin Firdevs , Karadağ Ayişe , Avşar Pınar 
Published: September 2019

PURPOSE:
The purpose of this study was to determine the knowledge of incontinence-associated dermatitis (IAD) among nurses working in intensive care units.

DESIGN:
Descriptive study.

SUBJECTS AND SETTING:
The study was conducted in 6 intensive care units of a 550-bed academic research hospital in Turkey. Licensed practical and registered nurses with a minimum of a Bachelor of Science in Nursing degree employed full-time on these units were invited to participate.

METHODS:
The survey consisted of statements that examined the demographic characteristics (14 questions) and knowledge levels (59 statements) of the nurses. For each statement, nurses were required to mark only one of the following options: “correct,” “incorrect,” or “no knowledge.” Data were collected from July to September 2016. The Shapiro-Wilk test, Mann-Whitney U test, Kruskal-Wallis H test, post hoc multiple comparison test, and Spearman's correlation coefficient were used to analyze the data.

RESULTS:
Of the 126 RNs who participated in the study, 46.83% (n = 59) had an undergraduate degree in nursing. The majority (29.37%) practiced in gastroenterology surgery and urology intensive care units. The mean knowledge score was 33.05 ± 10.16 (min = 0, max = 59). The most correctly answered statement (94.44%; n = 119) was “The pH of the skin plays a role in skin barrier function.” The statement with the most incorrect or “no knowledge” answers (96.03%; n = 120) was “The natural moisturizing factor found in the structure of corneocytes helps the skin to maintain its oil levels.” Based on correctly answered statements, we found knowledge levels of the prevention and treatment of IAD were higher among nurses with a master of science degree in nursing (40.67 ± 4.32) and lower among licensed practical nursing (29.12 ± 10.08) (P < .05).

CONCLUSION:
In this study, knowledge of the nurses on identification, prevention, and treatment of IAD was low. Comprehensive basic nursing education and in-service training programs on IAD are recommended.
Some similarity solutions for three-dimensional boundary layers
Authors: Vaz R. H. , Mestel A. J. 
Published: September 2019

A similarity solution of a three-dimensional boundary layer is investigated. The outer flow is given by
U
= ( −
xz
, −
yz
,
z
2
), corresponding to an axisymmetric poloidal circulation with constant potential vorticity. This flow is an exact solution of the Navier–Stokes. A wall is introduced at
y
= 0 along which a boundary layer develops towards
x
= 0. We show that a similarity reduction to a system of ODEs is possible. Two distinct solutions are found, one of them through numerical path-continuation, and their stability is investigated. A second three-dimensional solution is also identified for two-dimensional outer flow. The solutions are generalized for outer flows scaling with different powers of
z
and similar results are found. This behaviour is related to the non-uniqueness of the Falkner–Skan flows in a three-dimensional sense, with a transverse wall-jet.
Exposure to perfluoroalkyl substances in a cohort of women firefighters and office workers in San Francisco
Authors: Trowbridge Jessica , Gerona Roy , Lin Thomas , Rudel Ruthann A. , Bessonneau Vincent , Buren Heather , Morello-Frosch Rachel 
Published: September 2019

AbstractBackgroundStudies in male firefighters have demonstrated increased exposures to carcinogenic compounds and increased rates of certain cancers compared to the general population. Many chemicals related to these occupational exposures have been associated with breast tumor development in animal and human studies, yet, there have been no studies on women firefighters due to their low numbers in most fire departments. To address this data gap, the Women Firefighters Biomonitoring Collaborative (WFBC) created a biological sample archive and analyzed levels of perfluoroalkyl substances (PFAS) among women firefighters and office workers in San Francisco.MethodsActive duty women firefighters (n=86) and office workers (n=84) were recruited from the San Francisco Fire Department and the City and County of San Francisco, respectively. Serum samples were collected and analyzed using liquid chromatography tandem mass spectrometry (LC MS/MS) to measure and compare PFAS levels between firefighters and office workers. For PFAS congeners detected in at least 70% of our study population, we examined differences in serum PFAS levels controlling for dietary, demographic and other confounders. Among firefighters, we assessed associations between occupational activities and PFAS levels.ResultsEight of 12 PFAS congeners were detected at levels above the limit of detection and seven were detected in at least 70% of the study population. Four PFAS were detected in all study participants (PFNA, PFOA, PFOS, PFHxS). In regression models comparing PFAS levels by occupation and adjusting for potential confounders, firefighters had higher geometric mean (GM) concentrations of PFAS compared to office workers: 2.39 (95%CI = 1.64,3.48), 2.32 (95% CI = 1.17,4.62) and 1.26 (95% CI = 0.99, 1.59) times higher for PFHxS, PFUnDA and PFNA, respectively. In analyses limited to firefighters, PFAS levels varied by assigned position in the fire department—firefighters and officers had higher PFNA, PFOA, PFDA, and PFUnDA compared to drivers. Additionally, firefighters who reported having used firefighting foam had higher concentrations of PFOA compared firefighters who reported never having used foam.ConclusionOur study found ubiquitous exposures to PFAS among WFBC participants, with women firefighters exposed to higher levels of some PFAS compared to office workers, suggesting that some of these exposures may be occupationally related.
Absence of Testicular Adrenal Rest Tumors in Newborns, Infants, and Toddlers with Classical Congenital Adrenal Hyperplasia
Authors: Kim Mimi S. , Koppin Christina M. , Mohan Pankhuri , Goodarzian Fariba , Ross Heather M. , Geffner Mitchell E. , De Filippo Roger , Kokorowski Paul 
Published: September 2019

AbstractINTRODUCTIONTesticular adrenal rest tumors (TART) are a known consequence for males with classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. TART are associated with potential infertility in adults. However, little is known about TART in very young males with CAH.OBJECTIVEWe assessed the prevalence of TART in newborn, infant, and toddler males with classical CAH via scrotal ultrasound.METHODSMales with CAH had scrotal ultrasounds during the first 4 years of life, evaluating testes for morphology, blood flow, and presence of TART. Newborn screen 17-hydroxyprogesterone (17-OHP) and serum 17-OHP at the time of ultrasound were recorded. Bone ages were considered very advanced if ≥ 2SD above chronological age.RESULTSThirty-one ultrasounds in 16 males were performed. An initial ultrasound was obtained in four newborns at diagnosis (6.8 ±2.1 days), six infants (2.2 ±0.9 months), and six toddlers (2.4 ±0.9 years). Eleven males had at least one repeat ultrasound. A large proportion (11/16) were in poor hormonal control with an elevated 17-OHP (325 ±298 nmol/L). One infant was in very poor hormonal control (17-OHP 447 nmol/L) at initial ultrasound, and two toddlers had advanced bone ages (+3.2 and +4.5 SD) representing exposure to postnatal androgens. However, no TART were detected in any subjects.CONCLUSIONSTART were not found in males up to 4 years of age with classical CAH despite settings with expected high ACTH drive. Further research into the occurrence of TART in CAH may elucidate factors which contribute to the detection and individual predisposition to TART.
Dissociative experiences in fibromyalgia are mediated by symptoms of autonomic dysfunction
Authors: Aslanyan Daron , Iodice Valeria , Davies Kevin A , Critchley Hugo D , Eccles Jessica A 
Published: September 2019

AbstractBackgroundFibromyalgia is characterised by chronic widespread pain. Quality of life is further reduced by autonomic and cognitive symptoms, including subjective ‘brain-fog’ and dissociative experiences. Although an association with joint hypermobility suggests variant connective tissue is a factor in both fibromyalgia and dysautonomia, the mechanisms underlying the neuropsychiatric symptoms are poorly understood.Methods21 fibromyalgia patients and 21 healthy controls were assessed for joint hypermobility dissociative experiences, autonomic symptoms and interoceptive sensibility. Mediation analyses were conducted according to the method of Baron and Kenny.ResultsPatients with fibromyalgia reported greater dissociative experiences and autonomic symptoms. The relationship between fibromyalgia and dissociative experiences was fully mediated by symptoms of orthostatic intolerance. Fibromyalgia, dissociative experiences and orthostatic intolerance all were associated with joint hypermobility and interoceptive sensibility.ConclusionsThis exploratory investigation highlights the relationship between dissociative experiences in the context of fibromyalgia and subjective experience of aberrant physiological responses. These findings can enhance the recognition and management of neuropsychiatric symptoms in patients with fibromyalgia, wherein dissociative experiences reflect disturbance of self-representation that can arise through abnormalities in internal agency, autonomic (dys)control and interoceptive prediction errors.
AsCRISPR: a web server for allele-specific sgRNA design in precision medicine
Authors: Zhao Guihu , Li Jinchen , Tang Yu 
Published: September 2019

AbstractAllele-specific genomic targeting by CRISPR provides a point of entry for personalized gene therapy of dominantly inherited diseases, by selectively disrupting the mutant alleles or disease-causing single nucleotide polymorphisms (SNPs), ideally while leaving normal alleles intact. Moreover, the allele-specific engineering has been increasingly exploited not only in treating inherited diseases and mutation-driven cancers, but also in other important fields such as genome imprinting, haploinsufficiency, genome loci imaging and immunocompatible manipulations. Despite the tremendous utilities of allele-specific targeting by CRISPR, very few bioinformatic tools have been implemented for the allele-specific purpose. We thus developed AsCRISPR (Allele-specific CRISPR), a web tool to aid the design of guide RNA (gRNA) sequences that can discriminate between alleles. It provides users with limited bioinformatics skills to analyze both their own identified variants and heterozygous SNPs deposited in the dbSNP database. Multiple CRISPR nucleases and their engineered variants including newly-developed Cas12b and CasX are included for users’ choice. Meanwhile, AsCRISPR evaluates the on-target efficiencies, specificities and potential off-targets of gRNA candidates, and also displays the allele-specific restriction enzyme sites that might be disrupted upon successful genome edits. In addition, AsCRISPR analyzed with dominant single nucleotide variants (SNVs) retrieved from ClinVar and OMIM databases, and generated a Dominant Database of candidate discriminating gRNAs that may specifically target the alternative allele for each dominant SNV site. A Validated Database was also established, which manually curated the discriminating gRNAs that were experimentally validated in the mounting literatures. AsCRISPR is freely available at http://www.genemed.tech/ascrispr.
Multi-hit autism genomic architecture evidenced from consanguineous families with involvement of FEZF2 and mutations in high-risk genes
Authors: Bensaid Mounia , Loe-Mie Yann , Lepagnol-Bestel Aude-Marie , Han Wenqi , Santpere Gabriel , Klarić Thomas , Plançon Christine , Roudies Rim , Benhima Imane , Tarik Nisrine , Nitschke Patrick , Plaza Jean-Marc , Kisra Hassan , Deleuze Jean-François , Sestan Nenad , Moalic Jean-Marie , Simonneau Michel 
Published: September 2019

ABSTRACTAutism Spectrum Disorders (ASDs) are a heterogeneous collection of neurodevelopmental disorders with a strong genetic basis. Recent studies identified that a single hit of either a de novo or transmitted gene-disrupting, or likely gene-disrupting, mutation in a subset of 65 strongly associated genes can be sufficient to generate an ASD phenotype. We took advantage of consanguineous families with an ASD proband to evaluate this model. By a genome-wide homozygosity mapping of ten families with eleven children displaying ASD, we identified a linkage region of 133 kb in five families at the 3p14.2 locus that includes FEZF2 with a LOD score of 5.8 suggesting a founder effect. Sequencing FEZF2 revealed a common deletion of four codons. However, the damaging FEZF2 mutation did not appear to be sufficient to induce the disease as non-affected parents also carry the mutation and, similarly, Fezf2 knockout mouse embryos electroporated with the mutant human FEZF2 construct did not display any obvious defects in the corticospinal tract, a pathway whose development depends on FEZF2. We extended the genetic analysis of these five FEZF2-linked families versus five FEZF2 non-linked families by studying de novo and transmitted copy number variation (CNV) and performing Whole Exome Sequencing (WES). We identified damaging mutations in the subset of 65 genes strongly associated with ASD whose co-expression analysis suggests an impact on the prefrontal cortex during the mid-fetal periods. From these results, we propose that both FEZF2 deletion and multiple hits in the repertoire of these 65 genes are necessary to generate an ASD phenotype.Significance StatementThe human neocortex is a highly organized laminar structure with neuron positioning and identity of deep-layer cortical neurons that depend on key transcription factors, such as FEZF2, SATB2, TSHZ3 and TBR1. These genes have a specific spatio-temporal pattern of expression in human midfetal deep cortical projection neurons and display mutations in patients with Autism Spectrum Disorder (ASD). Here, we identified a linkage region involving FEZF2 gene in five consanguineous families with an ASD proband. For these FEZF2-allele linked probands, we identified a four-codon deletion in FEZF2 and damaging mutations in other high-risk ASD genes, that exhibit regional and cell type–specific convergence in neocortical deep-layer excitatory neurons, suggesting a multi-hit genomic architecture of ASD in these consanguineous families.