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Alessandra Gasior, Giulia Brisighelli, Karen Diefenbach, Victoria Alison Lane, Carlos Reck, Richard J Wood, Marc Levitt
Introduction Functional constipation is a common problem in children. It usually can be managed with laxatives but a small subset of patients develop intolerable cramps and need to be temporarily treated with enemas. The senior author has previously reported: 1) open sigmoid resection as a surgical option, but this did not sufficiently reduce the laxative need, then 2) a transanal approach (with resection of rectosigmoid), but this led to a high rate of soiling due to extensive stretching of the anal canal and loss of the rectal reservoir...
October 25, 2016: European Journal of Pediatric Surgery
Masoumeh Ghafarzadeh, Mehrdad Namdari, Ali Eatemadi
Congenital heart disease (CHD) is the most prevalent congenital anomaly in newborn babies. Cardiac malformations have been induced in different animal model experiments, by perturbing some molecules that take part in the developmental pathways associated with myocyte differentiation, specification, or cardiac morphogenesis. The exact epigenetic, environmental, or genetic, basis for these molecules perturbations is yet to be understood. But, scientist have bridged this gap by introducing autologous stem cell into the defective hearts to treat CHD...
October 22, 2016: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
Xuesong Zhao, Xin Ren, Baixiang Ren, Zhouying Luo, Rong Zhu
2,2,4',4'-Tetrabromodi-phenyl ether (BDE-47) is predominantly concentrated in humans and wildlife and disturbs thyroid hormone homeostasis. The purpose of this study was to characterize the thyroid endocrine disruption induced by life-cycle exposure to BDE-47 in adults and offspring of zebrafish (Danio rerio). We exposed zebrafish embryos at the blastula stage to different concentrations of BDE-47 (1, 5, and 10μg/L). Exposure duration was 180days until fish reached adulthood. In F0 larvae, exposure decreased survival and increased malformations at 4 dpf...
October 12, 2016: Environmental Toxicology and Pharmacology
Pan Huang, Zhengrong Zhou, Fangxiong Shi, Genbao Shao, Ran Wang, Jintian Wang, Kangxin Wang, Wei Ding
The aim of the present study was to determine the effects of the insulin-like growth factor 1 (IGF-1)/phosphatase and tensin homologue deleted on chromosome 10 (PTEN)/Akt/forkhead box (FoxO) signaling pathway on male reproduction in rats subjected to water immersion and restraint stress (WRS). Sperm morphology, sperm malformation rate, and serum testosterone concentration were analyzed following WRS. In addition, the expression levels and immunolocalization of IGF‑1, PTEN, Akt and FoxO proteins, as well as the rate of cell apoptosis in rat testes, were investigated...
October 24, 2016: Molecular Medicine Reports
Shaobin Lin, Yi Zhou, Qun Fang, Jianzhu Wu, Zhiqiang Zhang, Yuanjun Ji, Yanmin Luo
The current study presents the cases of two unrelated patients with similar clinical features, including craniofacial anomalies, developmental delay/intellectual disability and cardiac malformations, that are consistent with chromosome 10q26 deletion syndrome. High‑resolution single‑nucleotide polymorphism analysis revealed that 10q26 terminal deletions were present in these two patients. The locations and sizes of the 10q26 deletions in these two patients were compared with the locations and sizes of 10q26 deletions in 30 patients recorded in the DECIPHER database and 18 patients characterized in previous studies through chromosomal microarray analysis...
October 19, 2016: Molecular Medicine Reports
Henrik Smeds, Jeremy Wales, Filip Asp, Ulrika Löfkvist, Babak Falahat, Britt-Marie Anderlid, Lena Anmyr, Eva Karltorp
OBJECTIVE: To evaluate if cochlear implantation is safe and constitutes an option for hearing rehabilitation of children with x-linked inner ear malformation. STUDY DESIGN: Retrospective patient review in combination with a multidisciplinary follow-up. SETTING: Tertiary referral hospital and cochlear implant program. PATIENTS: Ten children with severe-profound mixed hearing loss and radiological findings consistent with Incomplete Partition type 3 cochlear malformation received cochlear implants during the years 2007 to 2015...
October 21, 2016: Otology & Neurotology
Anna M Randi, Mike A Laffan
The recent discovery that von Willebrand factor (VWF) regulates blood vessel formation has opened a novel perspective on the function of this complex protein. VWF was discovered as a key component of haemostasis, capturing platelets at sites of endothelial damage and synthesized in megakaryocytes and endothelial cells (EC). In recent years, novel functions and binding partners have been identified for VWF. The finding that loss of VWF in EC results in enhanced, possibly dysfunctional angiogenesis is consistent with the clinical observations that in some patients with Von Willebrand disease (VWD), vascular malformations can cause severe gastrointestinal (GI) bleeding...
October 25, 2016: Journal of Thrombosis and Haemostasis: JTH
Hobia Gole, Raymond Chuk, David Coman
Kabuki syndrome is a clinically and genetically heterogeneous congenital malformation syndrome with protean clinical manifestations. This reflects the important epigenetic role in embryonic development of the two genes currently known to be associated with Kabuki syndrome i.e., KMT2D and KDM6A, which are responsible for Kabuki syndrome 1 and Kabuki syndrome 2, respectively. Hypoglycemia is thought to be a rare manifestation of Kabuki syndrome; however it may be under diagnosed. Herein we describe the case of a 5-year-old girl with Kabuki syndrome 2 in whom persistent hyperinsulinism was diagnosed at 4 years of age...
August 8, 2016: Clinics and Practice
Dorota Tassigny, Basel Abu-Serieh, Daniella Tsague Fofe, Jacques Born, Germain Milbouw
BACKGROUND AND IMPORTANCE: Syringomyelia is a progressive cerebrospinal fluid disorder which can lead to irreversible spinal cord injury. To date, the optimal management of syringomyelic cavities remains controversial. Multiple studies have emphasized the importance of the cranio-cervical decompression or shunting procedures. However, excepted for syrinx related to Arnold Chiari malformation, nearly half of patients need to be re-operated. The purpose of the present study was to describe a simple and efficient surgical technique and to report the long-term radio-clinical outcomes...
October 21, 2016: World Neurosurgery
Colin W Moore, Timothy D Wilson, Charles L Rice
Anatomy educators have an opportunity to teach anatomical variations as a part of medical and allied health curricula using both cadaveric and three-dimensional (3D) digital models of these specimens. Beyond published cadaveric case reports, anatomical variations identified during routine gross anatomy dissection can be powerful teaching tools and a medium to discuss several anatomical sub-disciplines from embryology to medical imaging. The purpose of this study is to document how cadaveric anatomical variation identified during routine dissection can be scanned using medical imaging techniques to create two-dimensional axial images and interactive 3D models for teaching and learning of anatomical variations...
October 21, 2016: Annals of Anatomy, Anatomischer Anzeiger: Official Organ of the Anatomische Gesellschaft
Erin L Rutherford, Laura Anne Lowery
Wolf-Hirschhorn syndrome (WHS) is a neurodevelopmental disorder characterized by mental retardation, craniofacial malformation, and defects in skeletal and heart development. The syndrome is associated with irregularities on the short arm of chromosome 4, including deletions of varying sizes and microduplications. Many of these genotypic aberrations in humans have been correlated with the classic WHS phenotype, and animal models have provided a context for mapping these genetic irregularities to specific phenotypes; however, there remains a significant knowledge gap concerning the cell biological mechanisms underlying these phenotypes...
October 21, 2016: Developmental Biology
William Fai Ka Tse
Treacher Collins syndrome (TCS, OMIM: 154500), an autosomal-dominant craniofacial developmental syndrome that occurs in 1 out of every 50,000 live births, is characterized by craniofacial malformation. Facial formation involves tight regulation of the craniofacial neural crest cells (NCCs). Mutations in TCOF1, POLR1C, or POLR1D have been identified in affected individuals. In addition to established mouse models, zebrafish models have recently emerged as an valuable method to study facial disease. In this report, we summarized the two updated articles working on the pathogenesis of the newly identified polr1c and polr1d TCS mutations (Lau et al...
October 21, 2016: International Journal of Biochemistry & Cell Biology
Debi M Thomas, Minna M Wieck, Christa N Grant, Avafia Dossa, Donna Nowicki, Phillip Stanley, Chadi Zeinati, Lori K Howell, Dean M Anselmo
PURPOSE: To evaluate efficacy of sclerotherapy with doxycycline versus sodium tetradecyl sulfate (STS) for treatment of macrocystic and mixed lymphatic malformations (LMs). MATERIALS AND METHODS: This single-center retrospective review identified 41 children (17 boys; 24 girls; age range, 1 month to 15.4 y) who underwent sclerotherapy with doxycycline (n = 32) or STS (n = 9) for macrocystic (n = 31) or mixed (n = 10) LMs. There were 114 treatments performed, averaging 2...
October 21, 2016: Journal of Vascular and Interventional Radiology: JVIR
P-A Barral, M Saeed-Kilani, F Tradi, A Dabadie, J Izaaryene, J Soussan, J-M Bartoli, V Vidal
PURPOSE: The purpose of this study was to evaluate the effectiveness of ethylene vinyl alcohol copolymer (Onyx) as a single embolic agent for percutaneous arterial treatment of hemorrhage due to uterine arteriovenous malformations (AVMs). MATERIALS AND METHODS: Twelve women (mean age, 33 years) with metrorrhagia due to uterine AVMs who were treated by percutaneous arterial embolization using Onyx as a single embolic agent were retrospectively included. The diagnosis of uterine AVM was suggested by pelvic ultrasound and/or magnetic resonance imaging findings and further confirmed by angiography...
October 21, 2016: Diagnostic and Interventional Imaging
María Del Carmen Navas-Aparicio, Cinthya Mora-Mesén
No abstract text is available yet for this article.
October 21, 2016: Acta Otorrinolaringológica Española
Francisco Rosa, Ana Silva, Cláudia Reis, Miguel Coutinho, Jorge Oliveira, Cecília Almeida E Sousa
OBJECTIVES: The aim of this study is to describe the experience of a tertiary referral centre in Portugal, of the placement of BAHA in children. METHODS: The authors performed a retrospective analysis of all children for whom hearing rehabilitation with BAHA was indicated at a central hospital, between January 2003 and December 2014. RESULTS: 53 children were included. The most common indications for placement of BAHA were external and middle ear malformations (n=34, 64%) and chronic otitis media with difficult to control otorrhea (n=9, 17%)...
October 21, 2016: Acta Otorrinolaringológica Española
Katrin Ehlers, Amey S Bhide, Dawit G Tekleyohans, Benjamin Wittkop, Rod J Snowdon, Annette Becker
Seed formation is a pivotal process in plant reproduction and dispersal. It begins with megagametophyte development in the ovule, followed by fertilization and subsequently coordinated development of embryo, endosperm, and maternal seed coat. Two closely related MADS-box genes, SHATTERPROOF 1 and 2 (SHP1 and SHP2) are involved in specifying ovule integument identity in Arabidopsis thaliana. The MADS box gene ARABIDOPSIS BSISTER (ABS or TT16) is required, together with SEEDSTICK (STK) for the formation of endothelium, part of the seed coat and innermost tissue layer formed by the maternal plant...
2016: PloS One
C Lorca-García, B Berenguer, E de Tomás Palacios, C Marín Molina
INTRODUCTION: Periorbital lymphatic malformations are a rare entity in which diagnosis and treatment could be a challenge for surgeons. Management may be conservative, or they can be treated by sclerotherapy, surgery or combination of both. CLINICAL OBSERVATION: We present two cases of periorbital lymphatic malformations treated by sclerotherapy (OK-432 or bleomycin) and surgery in which we achieve good results with minimum morbidity. COMMENTS: Surgery combined with sclerotherapy is a good option of treatment for periorbital lymphatic malformations because surgery can be more conservative and therefore, sequelae are lower...
April 20, 2016: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
Y D Pacheco, C Lorca-García, B Berenguer, E De Tomás
INTRODUCTION: Preaxial polydactyly is one of the most common congenital malformations of the hand. The treatment is surgical and should be done early, between 6 and 12 months old. The purpose of this paper is to review our experience in terms of casuistry, treatment and functional and aesthetic results of duplicity of thumb, since 2000 until today. MATERIAL AND METHODS: A retrospective study of patients with diagnosis of preaxial polydactyly from 2000 to january 2016 was performed...
October 10, 2016: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
S Castañeda, I Molina, P Jaimes, J Beltrán, J Valero, F Fierro
INTRODUCTION: The aim of the present study was to evaluate clinical presentation and management of sigmoid volvulus in children. Sigmoid volvulus is one of the three leading causes of acute obstruction of the colon and is between 50 and 90% of all large bowel volvulus. In the pediatric population only 3 to 5% of bowel obstructions are caused by volvulus and there are less than 100 cases reported in the literature. The presence of a redundant sigmoid with a narrow mesentery (dolicosigmoide) is a prerequisite for the volvulus formation...
January 15, 2016: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
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