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https://www.readbyqxmd.com/read/29779130/the-present-and-the-future-of-genetic-testing-in-familial-hypercholesterolemia-opportunities-and-caveats
#1
REVIEW
Amanda J Hooper, John R Burnett, Damon A Bell, Gerald F Watts
PURPOSE OF REVIEW: We summarize recent advances in the understanding of genetic testing in familial hypercholesterolemia (FH), the use of expanded FH next-generation sequencing panels, and directions for future research. RECENT FINDINGS: The uptake of massively parallel sequencing in research and diagnostic laboratories has enabled expanded testing for FH and its phenocopies, with the added advantage that copy number variants can be detected. However, increasing the number of genes tested increases the number of variants detected, which may or may not be pathogenic...
May 19, 2018: Current Atherosclerosis Reports
https://www.readbyqxmd.com/read/29778545/a-descriptive-model-for-a-multidisciplinary-unit-for-colorectal-and-pelvic-malformations
#2
Alejandra Vilanova-Sanchez, Devin R Halleran, Carlos A Reck-Burneo, Alessandra C Gasior, Laura Weaver, Meghan Fisher, Andrea Wagner, Onnalisa Nash, Kristina Booth, Kaleigh Peters, Charae Williams, Sarah Mayer Brown, Peter Lu, Molly Fuchs, Karen Diefenbach, Jeffrey R Leonard, Geri Hewitt, Kate McCracken, Carlo Di Lorenzo, Richard J Wood, Marc A Levitt
INTRODUCTION: Patients with anorectal malformations (ARM), Hirschsprung disease (HD), and colonic motility disorders often require care from specialists across a variety of fields, including colorectal surgery, urology, gynecology, and GI motility. We sought to describe the process of creating a collaborative process for the care of these complex patients. METHODS: We developed a model of a devoted center for these conditions that includes physicians, psychologists, social workers, nurses, and advanced practice nurses...
April 19, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29778301/behavioral-coping-plans-one-inter-professional-team-s-approach-to-patient-centered-care
#3
Katherine Wittling, Jessica Palumbo Dufur, Ashley McClain, Margaret Gettis
BACKGROUND: Surgical encounters for children with Autism Spectrum Disorder (ASD) are stressful to patients, families and health care providers. It is recognized that parents best anticipate needs of children with ASD. Including a family in the plan of care for the child is imperative. In response to the need for targeted, tailored care, an inter-professional surgical services team convened to determine best practices for addressing a behavioral and developmental plan for children with ASD in the surgical services arena...
May 17, 2018: Journal of Pediatric Nursing
https://www.readbyqxmd.com/read/29778131/vitamin-d-receptor-level-in-biopsy-specimen-of-patients-with-ulcerative-colitis-results-from-a-center-in-western-anatolia
#4
Adil Coskun, Irfan Yavasoglu, Ibrahim Meteoglu, Mustafa Unubol, Burak Yasar, Serkan Borazan, Imran Kurt Omurlu, Vahit Yukselen, M Hadi Yasa
BACKGROUND: Ulcerative colitis (UC) is a chronic, inflammatory bowel diseases characterized by uncontrolled inflammatory condition of the colon and rectal mucosa marked by recurrent periods of remission and exacerbation. Vitamin D receptor (VDR) is a member of the steroid receptor family that mediates the effects of vitamin D by regulating transcription of multiple cellular genes. We aimed to evaluate vitamin d receptor level in biopsy specimen of patients with UC in this study. METHODS: VDR levels were retrospectively studied in colon biopsy specimens of UC patients...
June 2018: Journal of the National Medical Association
https://www.readbyqxmd.com/read/29777646/traditional-practices-of-mothers-in-the-postpartum-period-evidence-from-turkey
#5
Kamile Altuntuğ, Yeşim Anık, Emel Ege
In various cultures, the postpartum period is a sensitive time and various traditional practices are applied to protect the health of the mother and the baby. The aim of this study was to determine traditional practices of mother care in the postpartum period in Konya City of Turkey. The research was a descriptive, cross-sectional study carried out among 291 women at the first 8 weeks of postpartum period who visited to family health centers from June 1 to December 1, 2015. The data were collected using questionnaires...
March 2018: African Journal of Reproductive Health
https://www.readbyqxmd.com/read/29776804/hemicraniectomy-for-malignant-middle-cerebral-artery-syndrome-a-review-of-functional-outcomes-in-two-high-volume-stroke-centers
#6
Abhi Pandhi, Georgios Tsivgoulis, Nitin Goyal, Muhammad F Ishfaq, Shailesh Male, Efstathios Boviatsis, Jason J Chang, Ramin Zand, Konstantinos Voumvourakis, Lucas Elijovich, Anne W Alexandrov, Marc D Malkoff, Daniel Hoit, Adam S Arthur, Andrei V Alexandrov
BACKGROUND AND PURPOSE: Despite recent landmark randomized controlled trials showing significant benefits for hemicraniectomy (HCT) compared with medical therapy (MT) in patients with malignant middle cerebral artery infarction (MMCAI), HCT rates have not substantially increased in the United States. We sought to evaluate early outcomes in patients with MMCAI who were treated with HCT (cases) in comparison to patients treated with MT due to the perception of procedural futility by families (controls)...
May 15, 2018: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/29775509/exploring-the-growth-trajectory-of-cultural-competence-in-taiwanese-paediatric-nurses
#7
Chiu-I Chen, Mei-Chih Huang
AIM: The purpose of this study was to explore the evolution of cultural competence in Taiwanese paediatric nurses. BACKGROUND: Because transnational marriage has become a social phenomenon in Taiwan, the proportion of newborns of new immigrant mothers accounts for 8-10% of total births every year. Since family-centered care is the core value of paediatric nursing, it is necessary to teach caregivers how to take care of hospitalized children and perform related nursing care as well as to determine what difficulties nurses will encounter when they care for patients from diverse cultures and to find solutions for these problems...
May 18, 2018: Journal of Clinical Nursing
https://www.readbyqxmd.com/read/29774647/effect-of-the-fetal-movement-count-on-maternal-fetal-attachment
#8
Esra Güney, Tuba Uçar
AIM: This study aimed to determine the effect of fetal movement counting on maternal-fetal attachment. METHODS: This study was a randomized controlled trial, conducted with experimental and control groups, each including 55 pregnant women from six family health centers in the Malatya Province, located in the east of Turkey. The data were collected by using a Personal Information Form and the Maternal Antenatal Attachment Scale. Training for fetal movement counting was provided to the experimental group...
May 17, 2018: Japan Journal of Nursing Science: JJNS
https://www.readbyqxmd.com/read/29773215/sleep-disturbance-mediates-the-association-between-intrafamily-conflict-and-mental-health-problems-in-chinese-adolescents
#9
Liying Zhang, Yanyun Yang, Zhen-Zhen Liu, Cun-Xian Jia, Xianchen Liu
BACKGROUND: Mental health problems and sleep disturbance are prevalent in adolescents. Intrafamily conflict has been found to be associated with mental health problems and sleep disturbance in adolescents. This study examined the hypothesis that sleep disturbance mediates the effect of intrafamily conflict on mental health problems. METHOD: Participants were 11,831 adolescent students who participated in the baseline survey of the Shandong Adolescent Behavior and Health Cohort...
June 2018: Sleep Medicine
https://www.readbyqxmd.com/read/29772916/home-oxygen-therapy-for-bronchiolitis-an-evaluation-of-the-primary-care-providers-experience-at-sea-level
#10
Erin E Dunbar, Michelle L Macy, James A Cranford, Nicole Sroufe, Marie Lozon, Marisa C Louie
Despite 90% of primary care providers at altitude reporting experience with home oxygen therapy for hypoxemic, otherwise well infants, its use at sea level is not well described. Our objective was to understand experience with home oxygen at sea level and determine potential barriers and benefits of its use. We surveyed all pediatricians and family medicine providers within a 30-mile radius of our pediatric hospital from May 2016 to December 2016. Forty-three percent of providers responded. Few (8%) had any experience with home oxygen therapy for bronchiolitis...
May 1, 2018: Clinical Pediatrics
https://www.readbyqxmd.com/read/29772825/identification-and-characterization-of-the-wox-family-genes-in-five-solanaceae-species-reveal-their-conserved-roles-in-peptide-signaling
#11
Xiaoxu Li, Madiha Hamyat, Cheng Liu, Ahmad Salman, Xiaoming Gao, Cun Guo, Yuanying Wang, Yongfeng Guo
Members of the plant-specific WOX (WUSCHEL-related homeobox) transcription factor family have been reported to play important roles in peptide signaling that regulates stem cell maintenance and cell fate specification in various developmental processes. Even though remarkable advances have been made in studying WOX genes in Arabidopsis , little is known about this family in Solanaceae species. A total of 45 WOX members from five Solanaceae species were identified, including eight members from Solanum tuberosum , eight from Nicotiana tomentosiformis , 10 from Solanum lycopersicum , 10 from Nicotiana sylvestris and nine from Nicotiana tabacum ...
May 17, 2018: Genes
https://www.readbyqxmd.com/read/29771815/the-many-faces-of-patient-centered-simulation-implications-for-researchers
#12
Jennifer L Arnold, Frederic Rick D McKenzie, Jane Lindsay Miller, Mary E Mancini
INTRODUCTION: Patient-centered simulation for nonhealthcare providers is an emerging and innovative application for healthcare simulation. Currently, no consensus exists on what patient-centered simulation encompasses and outcomes research in this area is limited. Conceptually, patient-centered simulation aligns with the principles of patient- and family-centered care bringing this educational tool directly to patients and caregivers with the potential to improve patient care and outcomes...
May 15, 2018: Simulation in Healthcare: Journal of the Society for Simulation in Healthcare
https://www.readbyqxmd.com/read/29771800/left-sided-dominance-of-early-onset-colorectal-cancers-a-rationale-for-screening-flexible-sigmoidoscopy-in-the-young
#13
Lior Segev, Matthew F Kalady, James M Church
BACKGROUND: National databases show a recent significant increase in the incidence of colorectal cancer in people younger than 50. With current recommendations to begin average-risk screening at age 50, these patients do not have the opportunity to be screened. We hypothesized that most of the cancers among the young would be left sided, which would create an opportunity for screening the young by flexible sigmoidoscopy. OBJECTIVE: This study aims to analyze the anatomic distribution of sporadic colorectal cancers in patients under the age of 50...
May 15, 2018: Diseases of the Colon and Rectum
https://www.readbyqxmd.com/read/29771763/recognizing-diagnosing-and-preventing-child-maltreatment-an-update-for-pediatric-clinicians
#14
Fiona Danaher, Andrea Vandeven, Aine Blanchard, Alice W Newton
PURPOSE OF REVIEW: Despite an increasing understanding of the impact of emotional trauma and physical abuse on children, clinicians and hospitals still sometimes miss the diagnosis of abuse. The literature in 2017 focused on creating standardized approaches to recognition and diagnosis of physical abuse and occult injury, including using the electronic medical record to provide triggers for consultation of the hospital Child Protection Program. The American College of Radiology updated their standardized approach to the evaluation of physical abuse in the child, and other authors gave us screening tools for commercial exploitation, as well as guidance about how to recognize risks for emotional abuse in families...
May 15, 2018: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/29771161/casting-protocols-following-bont-a-injections-to-treat-spastic-hypertonia-of-the-triceps-surae-in-children-with-cerebral-palsy-and-equinus-gait-a-randomized-controlled-trial
#15
Barbara Kelly, Marilyn MacKay-Lyons, Susan Berryman, Joe Hyndman, Ellen Wood
AIM: To study the effects of single versus serial casting post-Botulinum toxin A (BoNT-A) injections on hypoextensibility of triceps surae in children, 2-7 years old, with cerebral palsy and equinus gait. METHODS: A randomized, stratified, parallel, two-group trial was conducted at a pediatric health center with assessments at baseline, precast, postcast and, 1-, 2-, and 6-month follow-ups. One week following BoNT-A injections into triceps surae muscle, a single below-knee cast (n = 10) or 3 serial casts (n = 10) were applied for 3 weeks...
May 17, 2018: Physical & Occupational Therapy in Pediatrics
https://www.readbyqxmd.com/read/29770996/prenatal-diagnosis-of-holoprosencephaly
#16
Youssef A Kousa, Adré J du Plessis, Gilbert Vezina
Holoprosencephaly is a spectrum of congenital defects of forebrain development characterized by incomplete separation of the cerebral hemispheres. In vivo diagnosis can be established with prenatal brain imaging and disease severity correlates with extent of abnormally developed brain tissue. Advances in magnetic resonance imaging (MRI) over the past 25 years and their application to the fetus have enabled diagnosis of holoprosencephaly in utero. Here, we report on the prenatal diagnosis of holoprosencephaly using MRI as part of a diagnostic and management evaluation at a tertiary and quaternary referral center...
May 17, 2018: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29769482/aetiological-factors-of-female-genitourinary-fistula
#17
F Z Aalpona, M Kamrul-Hasan, F Islam, S Hossain, S Akter, K F Ananya
The purpose of this observational cross-sectional study was to evaluate the histories of women with urinary incontinence caused by genitourinary fistulae in Bangladesh. This is an exploratory analysis to investigate possible contributing factors to the development of urogenital fistulae. Sixty four (64) women who were treated for urogenital fistulae at the National Fistula Center, Dhaka Medical College Hospital, Dhaka, Bangladesh were interviewed from July 2013 to December 2013. Their average age was 35.91 years; majorities were illiterate; had early marriage and came from poor family...
April 2018: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/29768945/pharmacist-impact-on-treatment-intensification-and-hemoglobin-a-1c-in-patients-with-type-2-diabetes-mellitus-at-an-academic-health-center
#18
Kevin Cowart, Karen Sando
BACKGROUND: Achievement of treatment goals for patients with type 2 diabetes mellitus (T2DM) is suboptimal. This is in part driven by a lack of treatment intensification when warranted, termed "clinical inertia." OBJECTIVES: To investigate time to treatment intensification and changes in A1C among pharmacist-physician managed (PPM) patients compared to usual medical care (UMC) in patients with T2DM. METHODS: Retrospective matched cohort study at 2 academic family medicine clinics...
January 1, 2018: Journal of Pharmacy Practice
https://www.readbyqxmd.com/read/29768614/factors-associated-with-negative-self-rated-health-in-menopausal-women
#19
Vitor Hipólito Silva, Josiane Santos Brant Rocha, Antonio Prates Caldeira
The scope of this study was to investigate the prevalence and factors associated with negative self-rated health in menopausal women registered with the Family Health Strategy in a Brazilian urban center. It is a cross-sectional study with a random sample of menopausal women. A validated instrument addressing sociodemographic and behavioral data related to self-rated health status was used. The association between the variables studied and negative self-rated health was assessed by bivariate analysis followed by Poisson regression with robust variance, in a hierarchical model...
May 2018: Ciência & Saúde Coletiva
https://www.readbyqxmd.com/read/29768600/-the-profile-of-caregivers-to-pediatric-patients-with-cystic-fibrosis
#20
Stella Pegoraro Alves, Denise Bueno
The scope of this study was to establish the profile of caregivers of pediatric patients diagnosed with Cystic Fibrosis (CF). It was a cross-sectional, descriptive and prospective study in which the caregivers of fibrocystic patients were interviewed during pharmaceutical consultation in a reference center of a University Hospital in southern Brazil. General information was obtained about the caregivers and about their understanding of the disease, drug consumption and dynamics of treatment at home and at school...
May 2018: Ciência & Saúde Coletiva
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