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Alexander Johannes Martinus Dingemans, Carlos Albert Reck-Burneo, Molly Fuchs, Alejandra Vilanova Sanchez, Victoria Alison Lane, Erin Hoover, Tassiana Maloof, Laura Weaver, Marc A Levitt, Richard J Wood
INTRODUCTION:  Previous research in children with Hirschsprung's disease (HD) and Down's syndrome (DS) has focused on colorectal outcomes. We set out to review urinary outcomes in this patient group. METHODS:  The medical records of all patients aged five years and older with HD were reviewed, and patients and caregivers filled out the Vancouver Symptom Score at intake, which is designed and validated to diagnose dysfunctional elimination syndrome. RESULTS:  A total of 104 patients with HD were included in this study...
June 17, 2018: European Journal of Pediatric Surgery
Amichai Ben Ari, Daniella Margalit, Raphael Udassin, Fortu Benarroch
INTRODUCTION:  Since hospitalization can be a traumatic event for children, many of them may suffer from a cluster of chronic psychological and emotional difficulties called Pediatric Medical Traumatic Stress (PMTS). Although PMTS causes considerable functional impairment and psychological distress and may decrease the children's compliance with post-surgical care, awareness of this condition is low and thus not enough effort is made to prevent it. The objective of this study is to assess prospectively the prevalence and characteristics of PMTS in school-age children following hospitalization in a general pediatric surgery ward and in their parents, which has not been documented before...
June 17, 2018: European Journal of Pediatric Surgery
C Roadhouse, C Shuman, K Anstey, K Sappleton, D Chitayat, E Ignagni
Genetic counselors adopt seemingly contradictory roles: advocating for individuals with genetic conditions while offering prenatal diagnosis and the option of selective termination to prevent the birth of a child with a disability. This duality contributes to the tension between the disability and clinical genetics communities. Varying opinions exist amongst the disability community: some value genetic services while others are opposed. However, there is limited research exploring the opinions of individuals with a disability regarding issues related to reproduction and genetic services in the context of personal experience...
June 16, 2018: Journal of Genetic Counseling
Corinna L Schultz, Melissa A Alderfer, Robert B Lindell, Zachary McClain, Kristin Zelley, Kim E Nichols, Carol A Ford
Li-Fraumeni syndrome (LFS) is a highly penetrant cancer predisposition syndrome that may present with a first cancer before or during adolescence/young adulthood. Families offered LFS genetic testing for their children can inform our understanding of how the unique developmental context of adolescence influences parental perspectives about genetic testing and discussions of cancer risk. In this study, semi-structured interviews were conducted with 46 parents of children at risk for LFS to capture those perspectives...
June 16, 2018: Journal of Genetic Counseling
Fiona Scorgie, Jonathan Stadler, Deborah Baron, Susan Ju, Tshepiso Ikaneng, Zonke Mabude, Sylvia Makgopa, Matshidiso A Malefo, Kgahlisho N Manenzhe, Thulani Mazibuko, Hilda Ntjana, Busi Nkala, Thesla Palanee-Phillips, Glenda Gray, Helen Rees, Sinead Delany-Moretlwe
The FACTS 001 trial found that vaginal pre- and post-coital application of 1% tenofovir gel did not prevent HIV-1 infection amongst young South African women. The trial included a multi-faceted approach to adherence support and collected objective and self-reported adherence measures. Using qualitative data collected from a random sub-set of FACTS 001 participants (135 in-depth interviews at product discontinuation and 13 focus group discussions at dissemination of trial results), we explore the importance of 'place' and 'timing' in shaping acts of sexual intimacy and product adherence...
June 16, 2018: AIDS and Behavior
Rongwang Yang, Yanyi Zhang, Weijia Gao, Nannan Lin, Rong Li, Zhengyan Zhao
Some trace elements may participate in the pathogenesis of attention-deficit hyperactivity disorder (ADHD). This study aimed to investigate the trace element status of zinc (Zn), copper (Cu), iron (Fe), magnesium (Mg), and lead (Pb) in children with ADHD, and to compare them with normal controls. Associations between examined elements and SNAP-IV rating scores of ADHD symptoms were also assessed. Four hundred nineteen children with ADHD (8.8 ± 2.1 years) and 395 matched normal controls (8.9 ± 1.7 years) were recruited in the study...
June 16, 2018: Biological Trace Element Research
Erica Szkody, Mary Moussa Rogers, Cliff McKinney
PURPOSE: Parent-child relationship quality is an important factor when examining adolescent's risk for problem behaviors. For this reason, many researchers have explored the impacts of parent-child relationship quality on adolescent and child behavior, yet the parent-child relationship has lasting consequences into adulthood. METHODS: The current study examined the mediating role of risky sexual behavior (as measured by the Youth Risk Behavior Survey) on the relationship between parent-child relationship quality (as measured by the Parental Environment Questionnaire) and quality of life (as measured by the World Health Organizations Quality of Life Questionnaire) beyond adolescence, during emerging adulthood...
June 16, 2018: Quality of Life Research
Qingfeng Liu, Yanhua Qi, Qiuli Liang, Xiujuan Xu, Fangzhou Hu, Jing Wang, Jun Xiao, Shi Wang, Wuhui Li, Min Tao, Qinbo Qin, Rurong Zhao, Zhanzhou Yao, Shaojun Liu
Hybridization can combine the genomes of different strains or species, which leads to changes of genotype and phenotype in the hybrids. In this study, we aimed to investigate the genetic variations of hybrids (WR-F1 and WR-F2 ) derived from the intraspecific hybridization of white crucian carp (Carassius auratus cuvieri, WCC, ♀) and red crucian carp (Carassius auratus red var., RCC, ♂). Here, we compared the orthologous genes in the liver transcriptomes of hybrids with those of WCC and RCC, and classified the orthologous genes into eight gene patterns within three categories (chimera, mutant, and biparental origin genes)...
June 13, 2018: Science China. Life Sciences
Rachael Barr, Elliott J Carande, Andrew J Pollard, Simon B Drysdale
BACKGROUND: Viral bronchiolitis is one of the most common causes of hospitalisation in young infants. It has previously been shown that many United Kingdom (UK) hospital Trusts were not compliant with many aspects of the National Institute for Health and Care Excellence (NICE) bronchiolitis guideline prior to its publication. OBJECTIVES: This study aimed to investigate changes in the management of bronchiolitis by hospital Trusts between 2015 (before NICE guideline publication) and 2017, after publication...
June 12, 2018: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
Murillo Cunegatto-Braga, Brian Hogan, Pedro Aguilar-Salinas, Alexandra D Beier, Ricardo A Hanel
BACKGROUND: Intracranial aneurysms(IAs) are rare in the pediatric population and are usually considered difficult to treat with traditional microsurgery due to their complex morphology. Endovascular techniques have become the standard option for treating IAs in adults. More recently, flow diverters such as the Pipeline Embolization Device(PED) are being widely adopted for unruptured IAs with safety and efficacy in adults, yet their use in the pediatric population is not well defined. In this paper we present a pediatric patient with a ruptured PCA aneurysm successfully treated with a PED and a review of the literature of the current status of PED use in this subset of patients...
June 14, 2018: World Neurosurgery
Jianpeng Wang, Dong Wang, Dehong Wan, Qingxia Ma, Qian Liu, Jiye Li, Zhaojian Li, Yang Gao, Guohui Jiang, Leina Ma, Jia Liu, Chuzhong Li
BACKGROUND: The invasion and recurrence of clinical nonfunctioning pituitary adenomas (NFA) often lead to surgical treatment failure. Circular RNAs (circRNAs) are a novel class of RNAs whose 3' and 5' ends are joined together and have been shown to play important roles in cancer development. Up to now, the roles of circRNAs remain unclear in invasive and recurrent NFA. METHODS: We detected and summarized the circRNA expression pattern in 75 NFA tissues from 10 non-invasive cases and 65 invasive cases and 9 pairs NFA tumor tissues from 9 recurrent cases by circRNA microarrays...
June 14, 2018: World Neurosurgery
Michael Benson, Moneer K Hanna
INTRODUCTION AND OBJECTIVES: The desire to preserve the prepuce is often based on cultural norms. Recently, the concept of "genital autonomy" has been invoked to delay circumcision (or any genital altering procedure) until the individual reaches maturity and can make his or her own decision. However, some uncircumcised boys develop one or more episodes of balanitis resulting in scarring of the prepuce and pathologic phimosis which is difficult to treat. Herein we report on the management of severe phimosis and preputial scarring using preputial Z-plasties...
June 8, 2018: Journal of Pediatric Urology
Birgitte Klee Burton, Signe Vangkilde, Anders Petersen, Lene Theil Skovgaard, Jens Richardt Jepsen, Nicoline Hemager, Camilla Jerlang Christiani, Katrine Soeborg Spang, Ditte Ellersgaard, Aja Greve, Ditte Gantriis, Heike Eichele, Ole Mors, Merete Nordentoft, Anne Amalie Elgaard Thorup, Kerstin Jessica Plessen
BACKGROUND: Given the partially shared genetic liability between schizophrenia and bipolar disorder, we aimed to assess whether 7-year-old children with a familial high risk of schizophrenia or bipolar disorder display specific deficits of sustained attention and interference control compared with each other and with control children. METHODS: An observational cohort was identified through Danish registries and consisted of 522 children 7 years of age with no, one, or two parents with a diagnosis of schizophrenia or bipolar disorder...
May 22, 2018: Biological Psychiatry: Cognitive Neuroscience and Neuroimaging
Jessica R Cataldi, Amanda F Dempsey, Mandy A Allison, Sean T O'Leary
OBJECTIVE: Several states require schools and child cares to report vaccination rates, yet little is known about the impact of these policies. Our objectives were to assess: (1) predicted impact of vaccination rates on school/child care choice, (2) differences between vaccine hesitant and non-hesitant parents, and (3) differences by child's age. METHODS: In 2016, a cross-sectional email survey of Colorado mothers with children ≤12 years old assessed value of vaccination rates in the context of school/child care choice...
June 13, 2018: Vaccine
Sujin Kim, Angela Kj Park, Jeonghee Cho
The emergence of the T790 M gatekeeper mutation in the Epidermal Growth Factor Receptor (EGFR) gene is an important mechanism that can lead to the acquired resistance to EGFR-targeted tyrosine kinase inhibitors such as erlotinib or gefitinib. These drugs have been used in treating a subset of non-small cell lung cancer (NSCLC) patients harboring EGFR activating mutations. Here we investigated the paths leading to the acquisition of the T790 M mutation by establishing an erlotinib resistant PC9 cell model harboring ectopically introduced EGFR cDNA...
June 14, 2018: Biochemical and Biophysical Research Communications
Sharon E Lynn, Michael D Kern
Early life experiences can affect the function of the hypothalamo-pituitary-adrenal (HPA) axis of vertebrates, with potential fitness consequences later in life. In altricial species, for example, variation in parental behavior, e.g. brooding or feeding, can modify the activity of the HPA axis of the young by altering their exposure to noxious stimuli as they develop in the nest. We have shown that a drop in the body temperature of eastern bluebird (Sialia sialis) chicks, such as occurs when females are away from the nest, elevates their blood corticosterone levels...
June 14, 2018: General and Comparative Endocrinology
Simon Fishel
On July 25, 1978, the first human was born following extracorporeal fertilization, an event that opened up a new medical science: expanding our knowledge of and developing novel treatments for infertility, radically changing the opportunities for families with inherited monogenic disorders, generating the new discipline of clinical embryology, and paving the way for studies into stem cell biology. In vitro fertilization (IVF), as it became known in its simplest form, went even further: it engaged the myriad of minds in human society...
June 13, 2018: Fertility and Sterility
Shinya Fujii, Shuichi Mori, Hiroyuki Kagechika, Marco Antonio Mendoza Parra, Hinrich Gronemeyer
Herein, we report the rational design, synthesis and biological evaluation of conjugates consisting of the synthetic retinoid Am580 and biotin connected via a linker moiety. We found that the linking substructure between the retinoid part and the biotin part is critical for retaining the biological activity. Conjugate 4 with a shorter linker showed similar potency to endogenous retinoid ATRA (1) and the parent compound Am580 (2) for neural differentiation of mouse embryotic carcinoma P19 cells, and showed the same pattern of induction of gene expression...
June 6, 2018: Bioorganic & Medicinal Chemistry Letters
Brian Waters, Kenji Hara, Natsuki Ikematsu, Mio Takayama, Aya Matsusue, Masayuki Kashiwagi, Shin-Ichi Kubo
A female in her late teens purposely ingested alcohol fuel containing methanol to commit suicide, which she admitted on social media. She was found in distress by her parents and died at the hospital some hours later. Autopsy revealed swelling of the brain and edematous and congestive lungs. No other trauma or unusual findings were revealed at autopsy. Methanol was detected upon routine screening for alcohols by headspace gas chromatography with flame-ionization detection. To confirm the presence of methanol and its metabolite formic acid, a method with detection by mass spectrometry was used...
June 4, 2018: Forensic Science International
Markus R M Fiedler, Lars Barthel, Christin Kubisch, Corrado Nai, Vera Meyer
BACKGROUND: The lifestyle of filamentous fungi depends on the secretion of hydrolytic enzymes into the surrounding medium, which degrade polymeric substances into monomers that are then taken up to sustain metabolism. This feature has been exploited in biotechnology to establish platform strains with high secretory capacity including Aspergillus niger. The accepted paradigm is that proteins become mainly secreted at the tips of fungal hyphae. However, it is still a matter of debate if the amount of growing hyphal tips in filamentous fungi correlates with an increase in secretion, with previous studies showing either a positive or no correlation...
June 16, 2018: Microbial Cell Factories
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