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https://www.readbyqxmd.com/read/27915443/successful-combination-of-endoscopic-pyloromyotomy-and-balloon-dilatation-for-hypertrophic-pyloric-stenosis-in-an-older-child-a-novel-procedure
#1
Satoshi Yokoyama, Shiro Uyama, Hiroyoshi Iwagami, Yukitaka Yamashita
BACKGROUND: Hypertrophic pyloric stenosis (HPS) is a rare cause of gastric outlet obstruction beyond infancy. Ramstedt pyloromyotomy remains the gold standard treatment for HPS. This type of HPS can be managed successfully with pyloromyotomy under laparoscopic or open procedures. Endoscopic pyloric balloon dilation (EPBD) has not been recommended in the treatment of HPS, and there are only a small number of reported cases who had had successful endoscopic pyloromyotomy (EP) for HPS only in infants...
December 2016: Surgical Case Reports
https://www.readbyqxmd.com/read/27913495/germ-line-mutations-associated-with-leukemias
#2
Christopher C Porter
Several genetic syndromes have long been associated with a predisposition to the development of leukemia, including bone marrow failure syndromes, Down syndrome, and Li Fraumeni syndrome. Recent work has better defined the leukemia risk and outcomes in these syndromes. Also, in the last several years, a number of other germ line mutations have been discovered to define new leukemia predisposition syndromes, including ANKRD26, GATA2, PAX5, ETV6, and DDX41 In addition, data suggest that a substantial proportion of patients with therapy related leukemias harbor germ line mutations in DNA damage response genes such as BRCA1/2 and TP53 Recognition of clinical associations, acquisition of a thorough family history, and high index-of-suspicion are critical in the diagnosis of these leukemia predisposition syndromes...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27911079/trans-acting-epigenetic-effects-of-chromosomal-aneuploidies-lessons-from-down-syndrome-and-mouse-models
#3
Catherine Do, Zhuo Xing, Y Eugene Yu, Benjamin Tycko
An important line of postgenomic research seeks to understand how genetic factors can influence epigenetic patterning. Here we review epigenetic effects of chromosomal aneuploidies, focusing on findings in Down syndrome (DS, trisomy 21). Recent work in human DS and mouse models has shown that the extra chromosome 21 acts in trans to produce epigenetic changes, including differential CpG methylation (DS-DM), in specific sets of downstream target genes, mostly on other chromosomes. Mechanistic hypotheses emerging from these data include roles of chromosome 21-linked methylation pathway genes (DNMT3L and others) and transcription factor genes (RUNX1, OLIG2, GABPA, ERG and ETS2) in shaping the patterns of DS-DM...
December 2, 2016: Epigenomics
https://www.readbyqxmd.com/read/27909135/new-radiological-parameters-for-the-assessment-of-atlantoaxial-instability-in-children-with-down-syndrome-the-normal-values-and-the-risk-of-spinal-cord-injury
#4
N Nakamura, Y Inaba, Y Aota, M Oba, J Machida, N Aida, K Kurosawa, T Saito
AIMS: To determine the normal values and usefulness of the C1/4 space available for spinal cord (SAC) ratio and C1 inclination angle, which are new radiological parameters for assessing atlantoaxial instability in children with Down syndrome. PATIENTS AND METHODS: We recruited 272 children with Down syndrome (including 14 who underwent surgical treatment), and 141 children in the control group. All were aged between two and 11 years. The C1/4 SAC ratio, C1 inclination angle, atlas-dens interval (ADI), and SAC were measured in those with Down syndrome, and the C1/4 SAC ratio and C1 inclination angle were measured in the control group...
December 2016: Bone & Joint Journal
https://www.readbyqxmd.com/read/27906794/health-related-quality-of-life-hr-qol-and-chronic-health-conditions-in-survivors-of-childhood-acute-myeloid-leukemia-aml-with-down-syndrome-ds-a-report-from-the-children-s-oncology-group
#5
Kris Ann P Schultz, Lu Chen, Alicia Kunin-Batson, Zhengjia Chen, William G Woods, Alan Gamis, Toana Kawashima, Kevin C Oeffinger, H Stacy Nicholson, Joseph P Neglia
Survival rates for children with Down syndrome (DS) and acute myeloid leukemia (AML) are high; however, little is known regarding the health-related quality of life (HR-QOL) of these survivors. Individuals who survived ≥5 years following diagnosis of childhood AML were invited to complete parent or patient-report surveys measuring HR-QOL and chronic health conditions. In total, 26 individuals with DS had a median age at diagnosis of 1.8 years (range, 0.77 to 10.9 y) and median age at interview of 15 years (range, 8...
November 30, 2016: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/27905645/-morbidity-profile-among-adolescents-with-down-syndrome
#6
Antonia Cárdenas, María A Paul, Catalina Correa, Sebastián Valderrama, Jaime Cerda, Macarena Lizama
BACKGROUND: There is a paucity of information about morbidity and mortality of adolescents with Down syndrome (DS). AIM: To describe morbidity and mortality of a cohort of Chilean adolescents with DS. MATERIAL AND METHODS: Review of electronic clinical records of 67 ambulatory patients with DS aged 10 to 20 years (37 women), seen between the years 2007 and 2014 in outpatient clinics of a University hospital. RESULTS: The mean age at the last consultation was 13 ± 3 years...
August 2016: Revista Médica de Chile
https://www.readbyqxmd.com/read/27899370/benign-reactive-lymphoid-hyperplasia-of-the-conjunctiva-in-childhood
#7
Adel G AlAkeely, Hind M Alkatan, Adel H Alsuhaibani, Hisham AlKhalidi, Leen Abu Safieh, Sarah E Coupland, Deepak P Edward
BACKGROUND/AIM: Our aim is to the report the clinical and histopathological features of benign reactive lymphoid hyperplasia (BRLH) of the conjunctiva in children and the outcomes of treatment. METHODS: A retrospective chart review was performed for children aged 0-18 years, diagnosed with conjunctival BRLH from January 2000 to December 2013 at two large ophthalmology hospitals in the Middle East. Data were collected on patient demographics, features of the lesions, the site of the lesion, location, adnexal involvement, lymph nodes involvement, local spread, histopathology and molecular genetic studies of the cases (if available), outcomes of treatment and recurrence...
November 29, 2016: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/27896273/relationships-between-muscle-architecture-of-rectus-femoris-and-functional-parameters-of-knee-motion-in-adults-with-down-syndrome
#8
Maria Stella Valle, Antonino Casabona, Marco Micale, Matteo Cioni
This study was designed to measure in vivo muscle architecture of the rectus femoris in adults with Down syndrome, testing possible relationships with functional parameters of the knee motion. Ten adults with Down syndrome and ten typically developed participated in the study. Pennation angle and thickness of the rectus femoris and subcutaneous layer of the thigh were measured via ultrasound imaging. Knee kinematics and electromyographic activity of the rectus femoris were recorded during free leg dropping...
2016: BioMed Research International
https://www.readbyqxmd.com/read/27896158/congenital-duodenal-obstruction-in-neonates-over-13-years-experience-from-a-single-centre
#9
Parveen Kumar, Chiranjiv Kumar, Prince Raj Pandey, Yogesh Kumar Sarin
AIM: To study the prevalence of associated anomalies with neonatal duodenal obstruction and factors impacting short-term survival. MATERIAL AND METHODS: Records of 31 neonates with neonatal duodenal obstruction could be retrieved and analyzed for a 13.5-year-period (October 2003-May 2016). M:F ratio was 1.58:1. The mean birth weight was 2.15 kg; 12 patients were preterm. Etiologies included duodenal atresia (n=23), duodenal web (n=8) and malrotation of gut (n= 6)...
October 2016: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/27894834/a-podoscopic-and-descriptive-study-of-foot-deformities-in-patients-with-down-syndrome
#10
E Mansour, J J Yaacoub, Z Bakouny, A Assi, I Ghanem
INTRODUCTION: Subjects with Down syndrome (DS) are known to be affected by various foot deformities. Despite the fact that some of these deformities have been reported in the literature, a more comprehensive description would be of benefit. The aim of this study is to investigate the prevalence of known foot deformities in patients with DS and of other previously non-described foot anomalies in this population. HYPOTHESIS: Subjects with DS have an increased prevalence of foot deformities compared to control subjects...
November 25, 2016: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://www.readbyqxmd.com/read/27893452/confounding-of-the-association-between-radiation-exposure-from-ct-scans-and-risk-of-leukemia-and-brain-tumors-by-cancer-susceptibility-syndromes
#11
Johanna M Meulepas, Cécile M Ronckers, Johannes Merks, Michel E Weijerman, Jay H Lubin, Michael Hauptmann
Recent studies linking radiation exposure from pediatric computed tomography (CT) to increased risks of leukemia and brain tumors lacked data to control for cancer susceptibility syndromes (CSS). These syndromes might be confounders because they are associated with an increased cancer risk and may increase the likelihood of pediatric CT scans. We identify CSS predisposing to leukemia and brain tumors through a systematic literature search and summarize prevalence and risk. Since empirical evidence is lacking in published literature on patterns of CT use for most types of CSS, we estimate confounding bias of relative risks (RR) for categories of radiation exposure based on expert opinion about patterns of CT scans among CSS patients...
November 28, 2016: Journal of Radiological Protection: Official Journal of the Society for Radiological Protection
https://www.readbyqxmd.com/read/27893086/the-composition-of-early-vocabulary-in-spanish-children-with-down-syndrome-and-their-peers-with-typical-development
#12
Elena Checa, Miguel Galeote, Pilar Soto
Purpose: There are very few studies, and at present none in Spanish, on vocabulary composition in children with Down syndrome (DS). Nor has the topic been widely assessed in Spanish-speaking children with typical development (TD). This study analyzed the composition of early vocabularies in a large sample of Spanish-speaking children with DS and compared it with that of children with TD. Method: We studied 108 children with DS and 108 children with TD with mental ages between 8 and 29 months, matched for size of productive vocabulary and gender...
November 1, 2016: American Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/27891498/the-participation-patterns-of-youth-with-down-syndrome
#13
Megan MacDonald, Jennifer Leichtman, Phil Esposito, Nicole Cook, Dale Allen Ulrich
PURPOSE: The purpose of this paper was to investigate the participation patterns of children with Down syndrome (DS) using the construct of participation as defined by the International Classification of Functioning Disability and Health (ICF). METHODS: Sixty-two children with DS were recruited between the ages of 9 and 17 years. All participants were given an interview-administered version of the Children's Assessment of Participation and Enjoyment (CAPE) to measure participation (1)...
2016: Frontiers in Public Health
https://www.readbyqxmd.com/read/27891427/anaesthetic-management-of-a-case-of-down-s-syndrome-with-achalasia-cardia
#14
Neeta Santha, Madhusudan Upadya, Sravanthi Vishwanatham
Achalasia cardia is a disorder of the gastrointestinal tract characterized by dilatation of the oesophagus and collection of food and fluids in the oesophagus leading to massive regurgitation and aspiration of gastric contents. Down's syndrome has multisystem effects which can also present as difficult airway. Here, we present a case of a 14-year-old girl, a case of Down's syndrome with Achalasia cardia and mitral valve prolapse posted for Heller's cardiomyotomy. Anaesthetic concerns were difficult airway due to Downs's syndrome, massive aspiration risks of Achalasia cardia and haemodynamic instability due to mitral regurgitation...
October 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27891365/visual-function-and-ocular-status-in-children-with-disabilities-in-special-schools-of-northern-india
#15
Gurvinder Kaur, Satish Thomas, Mahesh Jindal, S M Bhatti
INTRODUCTION: Children with disabilities (other than visual impairment) are at a higher risk of visual impairment as compared to normal population. Majority of the ocular disorders, like refractive errors and strabismus, are easily treatable. As these children depend on their visual inputs for social and academic activities, an early detection and prompt treatment of even a minor visual problem is of utmost importance for them. AIM: To assess the visual function and ocular status of children with disabilities other than visual impairment and to identify the preventable and treatable causes of visual impairment...
October 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27889681/change-over-time-in-women-s-views-and-experiences-of-maternity-care-in-england-1995-2014-a-comparison-using-survey-data
#16
Jane Henderson, Maggie Redshaw
BACKGROUND: there have been changes in maternity care policy over the last 20 years and women's experience, continuity and satisfaction with care have become more prominent. However there has been no research examining changes over time in women's reported experience. METHODS: this study used secondary analysis of data collected in four postal surveys of maternity care experiences in 1995, 2006, 2010 and 2014. In each case women who had delivered in a specified time period in England were randomly sampled and sent a questionnaire three months after the birth...
November 18, 2016: Midwifery
https://www.readbyqxmd.com/read/27879538/efficacy-of-ifosfamide-cisplatin-etoposide-ice-chemotherapy-for-a-cns-germinoma-in-a-child-with-down-syndrome
#17
Seishiro Nodomi, Katsutsugu Umeda, Hiroo Ueno, Satoshi Saida, Hidefumi Hiramatsu, Takeshi Funaki, Yoshiki Arakawa, Takashi Mizowaki, Souichi Adachi, Toshio Heike
Intracranial germ cell tumor is sometimes associated with Down syndrome; however, no optimal treatment has been developed due to the high risk of recurrence and treatment-related mortality. Here, we report on a patient with an intracranial germinoma in the bilateral basal ganglia. The patient received 3 courses of ifosfamide-cisplatin-etoposide in combination with whole-brain irradiation (24 Gy), with no serious complications. The patient is alive and disease free 16 months after the initial diagnosis. This regimen is a feasible treatment for intracranial germ cell tumor associated with Down syndrome, although careful attention must be paid to the increased risk for severe infection...
November 22, 2016: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/27879341/title-dynamin-functions-and-ligands-classical-mechanism-behind
#18
Mahaveer Singh, Hemant Jadhav, Tanya B
Dynamin is a GTPase, which plays a vital role in clathrin dependent endocytosis and other vesicular trafficking processes. Dynamin acts as scissor with debatable mechanism for newly formed vesicles originating from plasma membrane. Dynamin related proteins are important components in scission of various organelles such as clathrin coated vesicles, phagosomes and mitochondria, etc. helping in organelle division, viral resistance and mitochondrial fusion/division. Dysfunction and mutations in dynamin have been implicated in various disorders, where endocytic trafficking is involved, such as Alzheimer's, Parkinson's, Huntington's, Charcot-Marie Tooth disease, Heart failure, Schizophrenia, Epilepsy, Cancer, Optic atrophy, Down syndrome, Osteoporosis etc...
November 22, 2016: Molecular Pharmacology
https://www.readbyqxmd.com/read/27878784/a-population-based-study-of-prevalence-of-down-syndrome-in-southern-thailand
#19
Somchit Jaruratanasirikul, Ounjai Kor-Anantakul, Montira Chowvichian, Wannee Limpitikul, Pathikan Dissaneevate, Nitthakarn Intharasangkanawin, Atchara Sattapanyo, Sermsri Pathompanitrat
BACKGROUND: Down syndrome (DS) is the most common chromosomal disorder that causes mental retardation. In 2009, a population-based birth defects study was implemented in three provinces in southern Thailand. This study aimed to determine the prevalence of DS in the studied regions, and the proportion of DS fetuses detected by prenatal screening. METHODS: Data were obtained from a population-based surveillance study undertaken during 2009-2013. Entries in the birth defects registry included live births, stillbirths after 24 weeks gestational age, and terminations of pregnancy following prenatal diagnosis...
November 23, 2016: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/27878658/role-of-matricellular-proteins-in-disorders-of-the-central-nervous-system
#20
A R Jayakumar, A Apeksha, M D Norenberg
Matricellular proteins (MCPs) are actively expressed non-structural proteins present in the extracellular matrix, which rapidly turnover and possess regulatory roles, as well as mediate cell-cell interactions. MCPs characteristically contain binding sites for other extracellular proteins, cell surface receptors, growth factors, cytokines and proteases, that provide structural support for surrounding cells. MCPs are present in most organs, including brain, and play a major role in cell-cell interactions and tissue repair...
November 23, 2016: Neurochemical Research
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