bluuebunny/crossref_metadata_2025_split huggingface dataset:
Foundations of Perinatal Genetic Counseling
Authors: Mathiesen Amber , Roy Kali 
Published: May 2018

Abstract
Foundations of Perinatal Genetic Counseling provides an overview of the core concepts needed to practice perinatal genetic counseling, including the basics of pregnancy, the genetic counseling appointment, family and pregnancy history, prenatal screening, prenatal diagnosis, common indications, carrier screening, management of high-risk pregnancy, assisted reproductive technology, preimplantation genetic screening and diagnosis, and common situations arising in perinatal genetic counseling. It discusses general obstetrical information as it pertains to perinatal genetic counseling, including topics such as calculating gestational age, understanding gravidity and parity, and reproductive options. This book reviews the key components of a perinatal genetic counseling session and how to take a perinatal family, medical, and pregnancy history, as well as a prenatal risk evaluation based on age, family and pregnancy history, testing results, and ultrasound findings. It includes a detailed description of both prenatal screening and diagnostic testing options, including maternal serum screening, cell-free DNA testing, amniocentesis, and chorionic villus sampling. It also provides an explanation of carrier testing, including methods of testing, types of conditions, and indications for testing. This text provides information on the indications for referral to a perinatal genetic counselor such as age-related risks, personal and family history, ultrasound anomalies, teratogen exposure, recurrent pregnancy loss, and preconception counseling. It also reviews the management and types of referrals made in a high-risk pregnancy. Assisted reproductive technology is reviewed as well as descriptions of preimplantation genetic diagnosis and screening. It also describes common psychosocial and ethical situations encountered in perinatal genetic counseling.
The Perinatal Genetic Counseling Appointment and Family History
Authors: Mathiesen Amber , Roy Kali 
Published: May 2018

Abstract
This chapter on the perinatal genetic counseling appointment and the documentation of a family history outlines the basic components of the perinatal genetic counseling session as well as some considerations when taking a family history that are particularly relevant to the perinatal setting. The chapter reviews the fundamental components of the perinatal genetic counseling session. It discusses specific details on how to obtain a pregnancy history and family history, as well as how to interpret those histories. Last, it discusses unique situations that may arise in the perinatal setting when taking a pregnancy and family history, including gamete donation, same-sex couples, surrogacy, adoption, and ethnicity.
Prenatal Diagnosis
Authors: Mathiesen Amber , Roy Kali 
Published: May 2018

Abstract
Prenatal diagnosis is the term used to describe a set of tests that are designed to determine whether a specific genetic condition is present in a fetus. This chapter provides a detailed description of procedures as well as the types of testing options available for prenatal diagnosis. The two techniques for prenatal diagnosis, amniocentesis and chorionic villus sampling, are described in detail, including their procedures, risks, limitations, and their use in twin gestations. The prenatal diagnosis testing options are also described in detail, including karyotype, fluorescence in situ hybridization (FISH), microarray, molecular testing, and alpha-fetoprotein (AFP) and acetylcholinesterase (AChE) level testing. The chapter also includes images of karyotype, FISH, and microarray test results, and it also reviews the indications for prenatal diagnostic testing.
Common Indications
Authors: Mathiesen Amber , Roy Kali 
Published: May 2018

Abstract
This chapter describes common reasons for referral to a perinatal genetic counselor including age-related risks, personal and family history, ultrasound anomalies, teratogen exposure, recurrent pregnancy loss, and preconception counseling. Maternal and paternal age-related pregnancy risks are described, such as aneuploidy, single-gene conditions, and autism. A referral for a personal and/or family history of various conditions including single-gene conditions, aneuploidy, multifactorial conditions, birth defects, intellectual disability, developmental delay, autism, and consanguinity is described. The chapter reviews ultrasound anomalies and describes common ultrasound findings associated with aneuploidy, and hallmark ultrasound findings associated with particular genetic conditions, as well as identification of open neural tube defects. Teratogen exposure during pregnancy is discussed, including timing, dose, and duration and a description of typical features and symptoms associated with common teratogens. The chapter reviews the evaluation of pregnancy loss and stillbirth, male and female infertility, and referral for preconception counseling.
Carrier Screening
Authors: Mathiesen Amber , Roy Kali 
Published: May 2018

Abstract
This chapter provides information on carrier screening options available, including testing based on ethnicity, targeted to the family history or clinical situation, or by use of expanded carrier testing panels. It describes who should be offered testing, the timing of testing, how to evaluate the risks of conditions being tested, and how to interpret results, in addition to providing a brief description of newborn screening. The chapter describes testing protocols for specific conditions including cystic fibrosis, spinal muscular atrophy, FMR-1–related conditions, and hemoglobinopathies. It reviews ethnicity-based screening, as in Ashkenazi Jewish and French Canadian populations, as well as screening when there is a family history. It also discusses the use, benefits, and recommendations when offering expanded carrier screening.
Assisted Reproductive Technology and Reproductive Options for the At-Risk Couple
Authors: Mathiesen Amber , Roy Kali 
Published: May 2018

Abstract
For those with an increased risk of having a child with a genetic condition, reproductive options include avoiding pregnancy altogether, undertaking prenatal diagnosis in a current pregnancy, and preventing the transmission of the genetic changes responsible for the condition to a child. This chapter on assisted reproductive technology and reproductive options for the at-risk couple describes the basic techniques of assisted reproductive technologies as well as reproductive testing options prior to in vitro fertilization, including preimplantation genetic screening (PGS) and preimplantation genetic diagnosis (PGD). It includes a brief overview of ovarian stimulation, intrauterine insemination (IUI), and in vitro fertilization. This chapter discusses the details of PGS including the process and its limitations. It also includes a discussion of PGD, including the process, such as linkage analysis, and limitations, such as allele dropout.
Common Perinatal Genetic Counseling Situations
Authors: Mathiesen Amber , Roy Kali 
Published: May 2018

Abstract
This chapter highlights common situations in perinatal counseling, including challenging circumstances, complex situations, and ethical dilemmas. It discusses conflicts that may arise from pregnancy termination; the complexities surrounding the identification of incidental findings such as misattributed paternity, discovery of consanguinity, or discovery of an incidental condition; and issues surrounding privacy and confidentiality, including familial implications of genetic knowledge. Also discussed are difficult circumstances such as couples in conflict or nonparticipation of a male partner and dealing with uncertainty in various situations including fetal diagnosis and prognosis, family history, complex conditions, and variants of uncertain significance. Conflicts around fetal sex determination and the disclosure of adult-onset conditions are discussed, as is the situation when a patient asks for provider guidance in making a decision. Barriers to the consenting process are discussed, as are the complexities of practicing in a field of rapidly evolving technologies.
Paper integration: The structural constraints and consequences of the US refugee resettlement program
Authors: Fee Molly 
Published: May 2018

AbstractThe migration literature contends that, unlike other immigrants, refugees resettled in the US benefit from a federal program of integration. These claims do not consider the barriers that may complicate the implementation of resettlement policy. Based on 16 months of ethnographic fieldwork at a refugee resettlement agency in California, I argue that the organizational structure of the US Resettlement Program shapes how caseworkers provide resettlement services on a daily basis. The financial insecurity of Resettlement Agencies coupled with high stakes government oversight creates an organizational culture of vulnerability where caseworkers rely on discretion as they put resettlement policy into practice. Caseworkers develop coping mechanisms to get by as they simultaneously attend to the demands of their funders and their refugee clients. Given these structural constraints and limited resources, caseworkers instrumentalize paperwork as a discretionary tool. When files and documents are privileged over the quality and extent of resettlement services, caseworkers creatively utilize paperwork to separate policy from practice in order to protect themselves and appease their refugee clients. This policy of integration instead becomes a practice of paper integration, which problematizes prior theories and assumptions about US refugee resettlement. This practice of paper integration ultimately affects the services that arriving refugees receive and the degree to which they benefit from this ostensible program of integration.
Endoscopic Endonasal Transclival Approach to the Ventral Brainstem: Anatomic Study of the Safe Entry Zones Combining Fiber Dissection Technique with 7 Tesla Magnetic Resonance Guided Neuronavigation
Authors: Weiss Alessandro , Perrini Paolo , De Notaris Matteo , Soria Guadalupe , Carlos Alarcon , Castagna Maura , Lutzemberger Lodovico , Santonocito Orazio Santo , Catapano Giuseppe , Kassam Amin , Prats-Galino Alberto 
Published: May 2018

Abstract

BACKGROUND
Treatment of intrinsic lesions of the ventral brainstem is a surgical challenge that requires complex skull base antero- and posterolateral approaches. More recently, endoscopic endonasal transclival approach (EETA) has been reported in the treatment of selected ventral brainstem lesions.

OBJECTIVE
In this study we explored the endoscopic ventral brainstem anatomy with the aim to describe the degree of exposure of the ventral safe entry zones. In addition, we used a newly developed method combining traditional white matter dissection with high-resolution 7T magnetic resonance imaging (MRI) of the same specimen coregistered using a neuronavigation system.

METHODS
Eight fresh-frozen latex-injected cadaver heads underwent EETA. Additional 8 formalin-fixed brainstems were dissected using Klingler technique guided by ultra-high resolution MRI.

RESULTS
The EETA allows a wide exposure of different safe entry zones located on the ventral brainstem: the exposure of perioculomotor zone requires pituitary transposition and can be hindered by superior cerebellar artery. The peritrigeminal zone was barely visible and its exposure required an extradural anterior petrosectomy. The anterolateral sulcus of the medulla was visible in most of specimens, although its close relationship with the corticospinal tract makes it suboptimal as an entry point for intrinsic lesions. In all cases, the use of 7T-MRI allowed the identification of tiny fiber bundles, improving the quality of the dissection.

CONCLUSION
Exposure of the ventral brainstem with EETA requires mastering surgical maneuvers, including pituitary transposition and extradural petrosectomy. The correlation of fiber dissection with 7T-MRI neuronavigation significantly improves the understanding of the brainstem anatomy.
Video Head Impulse Test to Preoperatively Identify the Nerve of Origin of Vestibular Schwannomas
Authors: Constanzo Felipe , Sens Patricia , Teixeira Bernardo Corrêa de Almeida , Ramina Ricardo 
Published: May 2018

Abstract

BACKGROUND
Identification of the nerve of origin in vestibular schwannoma (VS) is an important prognostic factor for hearing preservation surgery. Thus far, vestibular functional tests and magnetic resonance imaging have not yielded reliable results to preoperatively evaluate this information. The development of the video head impulse test (vHIT) has allowed a precise evaluation of each semicircular canal, and its localizing value has been tested for some peripheral vestibular diseases, but not for VS.

OBJECTIVE
To correlate patterns of semicircular canal alteration on vHIT to intraoperative identification of the nerve of origin of VSs.

METHODS
A total 31 patients with sporadic VSs were preoperatively evaluated with vHIT (gain of vestibule-ocular reflex, overt and covert saccades on each semicircular canal) and then the nerve of origin was surgically identified during surgical resection via retrosigmoid approach. vHIT results were classified as normal, isolated superior vestibular nerve (SVN) pattern, isolated inferior vestibular nerve (IVN) pattern, predominant SVN pattern, and predominant IVN pattern. Hannover classification, cystic component, and distance between the tumor and the end of the internal auditory canal were also considered for analysis.

RESULTS
Three patients had a normal vHIT, 12 had an isolated SVN pattern, 5 had an isolated IVN pattern, 7 had a predominant SVN pattern, and 4 had a predominant IVN pattern. vHIT was able to correctly identify the nerve of origin in 89.7% of cases (100% of altered exams).

CONCLUSION
The pattern of semicircular canal dysfunction on vHIT has a localizing value to identify the nerve of origin in VSs.
Preparing BSN Students for Engagement in Interprofessional Learning
Authors: Wall Cynthia L. 
Published: May 2018

Abstract
Interprofessional education in the undergraduate nursing curriculum is an important element for successful interprofessional collaboration and quality outcomes for patients. A correlational study was conducted to determine if professional nursing values were related to attitudes toward interprofessional learning. Results from a cross-sectional survey of 117 nursing students, using the revised Nurse Professional Values Scale and the revised Readiness for Interprofessional Learning Scale, demonstrated a significant correlation between subscales from both instruments (p < .05). Further research is warranted. Nurse educators are encouraged to develop professional values content with consideration for preparing students for their interprofessional roles.
Effects of Cancer Genetic Panel Testing on at-Risk Individuals
Authors: Frost Anja S. , Toaff Miriam , Biagi Tara , Stark Elizabeth , McHenry Allison , Kaltman Rebecca 
Published: May 2018

OBJECTIVE:
To evaluate the role of screening patients at increased risk for hereditary cancer syndromes with an extended panel of cancer predisposition genes to identify actionable genetic mutations.

METHODS:
A retrospective chart review was conducted of all patients presenting to a multidisciplinary cancer program for genetic counseling and testing from January 2015 to December 2016. Individuals presenting to the program were identified as at-risk by a personal or family history of cancer, by their health care provider, or by self-referral. All participants met current National Comprehensive Cancer Network criteria for genetic risk evaluation for hereditary cancer. The results of testing and its implications for management, based on National Comprehensive Cancer Network guidelines, were recorded.

RESULTS:
Of 670 at-risk patients who underwent genetic testing, 66 (9.9%) had BRCA-limited testing; of these, 26 of 670 (3.9%) had a deleterious or likely pathogenic mutation. Expanded panel testing was done for 560 of the 670 patients (83.4%), and abnormal results were found in 65 of 670 (9.7%); non-BRCA mutations (predominantly CHEK2) were found in 49 of the 65 (75%). Abnormal genetic testing was associated with increased surveillance in 96% of those with deleterious mutations, whereas negative testing for a known familial mutation in 45 patients was associated with a downgrade of their risk and reduction of subsequent surveillance and management.

CONCLUSION:
Guideline-based management is frequently altered by genetic testing, including panel testing, in patients at risk for cancer. We recommend that obstetrics and gynecology providers routinely refer at-risk patients for genetic counseling and testing when clinically appropriate.
Satisfaction With the Intrauterine Device Insertion Procedure Among Adolescent and Young Adult Women
Authors: Akers Aletha Y. , Harding Jennifer , Perriera Lisa K. , Schreiber Courtney , Garcia-Espana J. Felipe , Sonalkar Sarita 
Published: May 2018

OBJECTIVE:
To evaluate satisfaction with intrauterine device (IUD) insertion procedures among adolescent and young adult women.

METHODS:
This secondary analysis of data from a multisite, single-blind, sham-controlled randomized trial of women having a levonorgestrel 13.5-mg IUD inserted enrolled participants from March 2015 through July 2016 at three family planning clinics in Philadelphia, Pennsylvania. Eligible participants were 14–22 years of age, nulliparous, not pregnant, and English-speaking. Randomization was computer-generated allocation in block sizes of four to a 1% lidocaine paracervical or sham block. Only patients were blinded. Satisfaction was measured with three items that assessed overall satisfaction with the procedure, whether participants would recommend the IUD to a friend, and the perception that the IUD was worth the discomfort. Predictors included demographics, sexual and reproductive history, pain after IUD insertion, and treatment group.

RESULTS:
Ninety-five women enrolled; 93 (97.9%) were included in the analysis. Forty-five (47.4%) were white, 34 (36.0%) were black, 62 (66.0%) were privately insured, and 75 (79.0%) had used contraception previously. Most (n=73 [76.8%]) reported high overall satisfaction with the procedure, 64 (67.4%) would recommend an IUD to a friend, and 79 (83.2%) perceived the IUD was worth the discomfort. The odds of reporting high overall satisfaction were lower among adolescents compared with young adults (odds ratio [OR] 0.07, 95% CI 0.008–0.68); those who never had a gynecologic examination compared with those who had (OR 0.26, 95% CI 0.07–0.99); and decreased as pain score increased (OR 0.96, 95% CI 0.94–0.99). Higher pain scores were negatively correlated with the odds of recommending an IUD to a friend and perceiving the IUD was worth the discomfort.

CONCLUSION:
Adolescent and young adult women report high levels of satisfaction after the IUD insertion procedure. Young age, lack of experience with gynecologic examinations, and high pain were inversely related to satisfaction.

CLINICAL TRIAL REGISTRATION:

ClinicalTrials.gov, NCT02352714.
The concept of oligometastases in colorectal cancer: from the clinical evidences to new therapeutic strategies
Authors: Massaut Edouard , Bohlok Ali , Lucidi Valerio , Hendlisz Alain , Klastersky Jean A. , Donckier Vincent 
Published: May 2018

Purpose of review
The concept of oligometastases, defining cancers with limited metastatic capacity and attaining a limited number of secondary sites, is now widely accepted, particularly in colorectal cancer. Currently, however, accurate predictive markers for oligometastatic tumors are still lacking. For this reason, it remains challenging to translate this concept into clinical recommendations. In the present work, we review recent publications on oligometastases in colorectal cancer, showing the evidences for such presentation and underlying the need for the identification of biomarkers, necessary to further develop new therapeutic strategies.

Recent findings
This review of recently published series confirms that long-term survival and cure could be obtained in patients undergoing surgical resection for colorectal metastases, particularly in the cases of liver metastases. Similar results are observed in other secondary sites such as in pulmonary metastases. Furthermore, in patients with unresectable metastases, significant survival benefit could be still obtained using nonresectional targeted approaches, as thermal ablation or stereotactic radiotherapy. Although these clinical evidences could now serve as proof-of-concept for the existence of an oligometastatic phenotype in colorectal cancer, neither clinical characteristics nor biological biomarkers have been established to be able to prospectively define the patients that will benefit from such therapeutic approaches targeting the metastatic sites. This emphasizes the need for further studies aiming at better defining early clinical and biological characteristics of these patients. As, currently, the reliable identification of the oligometastatic patients could only rely on the demonstration of favorable long-term outcomes after metastases-directed therapies, we propose that retrospective studies will be pivotal to analyze this question.

Summary
Extensive research is undergoing to define biologically the oligometastatic phenotype in colorectal cancer. Currently, the selection of the patients for potentially curative metastasectomy remains mostly empirical.
Dual-Frequency Ultrasound as a New Treatment Modality for Refractory Rosacea: A Retrospective Study
Authors: Park Jun Yeong , Ahn Min Kyun , Cho Eun Byul , Park Eun Joo , Kim Kwang Ho 
Published: May 2018

BACKGROUND
Dual-frequency ultrasound (DFU) has emerged as a new treatment modality for improving inflammatory skin disorders. Although there have been few pilot studies, there are a limited number of studies that investigated efficacy of DFU on refractory rosacea.

OBJECTIVE
This study investigated the effect of DFU on patients with refractory rosacea.

MATERIALS AND METHODS
The authors retrospectively analyzed medical records of 42 patients with refractory rosacea (erythematotelangiectatic rosacea [ETR], n = 26; papulopustular rosacea [PPR], n = 14, mixed, n = 2). The patients were treated with DFU twice per week for the 1st week, and then once per week thereafter. Efficacy was assessed using erythema index (EI), transepithelial water loss (TEWL), and patient self-assessment (PSA).

RESULTS
Treatment with DFU resulted in significant decrease in EI, TEWL, and PSA. No significant difference was noted between ETR and PPR.

CONCLUSION
Application of DFU in patients with refractory rosacea resulted in improvement in persistent erythema, barrier dysfunction, and patient-reported symptoms. Dual-frequency ultrasound may be an additional treatment option for rosacea that is resistant to other treatments.