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Down syndrome

Manuella Gautier, Michèle Gueneret, Corinne Plavonil, Eugénie Jolivet, Bruno Schaub
OBJECTIVE: To establish the normal reference range of fetal nasal bone length (NBL) during the second trimester in an Afro-Caribbean population and the likelihood ratio (LR) for fetal trisomy 21. METHODS: Prenatal records of euploid, non-malformed singleton fetuses who underwent second-trimester ultrasonographic scans at 20-24 weeks of gestation were retrospectively analyzed for NBL and gestational age (GA). Only Afro-Caribbean couples were selected. The relationship between fetal NBL and GA was determined...
October 21, 2016: Fetal Diagnosis and Therapy
(no author information available yet)
Layla Haidrani, writing in Learning Disability Practice, aims to debunk the myths and misconceptions that parents of children with Down's syndrome face.
October 12, 2016: Nursing Standard
Jane Fisher
Antenatal screening for Down's syndrome, and particularly the potential NHS implementation of the more sensitive cell-free DNA screening known as NIPT (non-invasive prenatal testing), has had intense media coverage recently, prompted by the BBC2 documentary A World Without Down's Syndrome.
October 12, 2016: Nursing Standard
Kentaro Nobutani, Daisuke Sawada, Shigeru Fujiwara, Yuki Kuwano, Kensei Nishida, Jiro Nakayama, Hiromu Kutsumi, Takeshi Azuma, Kazuhito Rokutan
AIMS: To clarify the effects of Lactobacillus gasseri CP2305 (CP2305) on quality of life and clinical symptoms and its functional mechanisms in patients with irritable bowel syndrome (IBS). METHODS AND RESULTS: After the patients were administered CP2305 daily for 4 weeks, the IBS-severity index score was significantly improved compared with that of the placebo group, and this improvement was accompanied by a reduction of health-related worry and changes in intestinal microbiota...
October 20, 2016: Journal of Applied Microbiology
Amy R Reed
This article analyzes narrative illustrations in genetic counseling textbooks as a way of understanding professional habitus--the dispositions that motivate professional behavior. In particular, this analysis shows that there are significant differences in how the textbooks' expository and narrative portions represent Down syndrome, genetic counseling practice, and patient behaviors. While the narrative portions of the text position the genetic counseling profession as working in service to the values of genetic medicine, the expository portions represent genetic counselors as neutral parties...
October 19, 2016: Journal of Medical Humanities
Mahmood D Al-Mendalawi, Hany M Abo-Haded
[No abstract available].
November 2016: Saudi Medical Journal
José Luiz Pedroso, Thiago Cardoso Vale, Orlando Graziani Povoas Barsottini
No abstract text is available yet for this article.
2016: Tremor and Other Hyperkinetic Movements
Thitiporn Junhasavasdikul, Nichanan Ruangwattanapaisarn, Sani Molagool, Chatmanee Lertudomphonwanit, Nongnuch Sirachainan, Noppadol Larbcharoensub
Immature gastric teratoma is an uncommon germ cell tumor of the stomach. We report a rare case of immature gastric teratoma in an infant with down syndrome with clinically presenting with hematemesis and severe anemia. Complete surgical resection remains the cornerstone of treatment.
October 2016: Clinical Case Reports
Sankalp Yadav, Gautam Rawal
Shprintzen-Goldberg Syndrome is an extremely infrequent disorder of connective tissue, characterized by craniosynostosis and marfanoid features, also known as Marfanoid Craniosynostosis syndrome. The syndrome was first introduced by Sugarman and Vogel' (1981) however, Shprintzen and Goldberg established this as a separate clinical entity in the year 1982. Since then, approximately sixty such cases have been set down in writing in the medical literature. Herein, we present a short review of literature of this rare connective disorder, in order to create awareness about this condition, as the magnitude of this disorder is not measured properly due to the paucity of literature...
2016: Pan African Medical Journal
Juan Eduardo Samur San-Matín, Ezequiel Moreira Gonçalves, Fabio Bertapelli, Roberto Teixeira Mendes, Gil Guerra-Júnior
INTRODUCTION: Adolescents with Down syndrome (DS) show high rate of overweight and tend to accumulate high amount of fat compared to the same people without the syndrome. OBJECTIVE: To estimate the cutoff point of the Body Mass Index (BMI) for the diagnosis of obesity in adolescents with DS according to different references for BMI in relation to the percentage of body fat (%BF) measured by dual-energy X-ray absorptiometry (DXA). METHODS: The sample was composed of 34 adolescents with DS (aged: 10 to 17 years old)...
September 20, 2016: Nutrición Hospitalaria: Organo Oficial de la Sociedad Española de Nutrición Parenteral y Enteral
Eric D Hamlett, Edward J Goetzl, Aurélie Ledreux, Vitaly Vasilevko, Heather A Boger, Angela LaRosa, David Clark, Steven L Carroll, Maria Carmona Iragui, Juan Fortea, Elliott J Mufson, Marwan Sabbagh, Abdul H Mohammed, Dean Hartley, Eric Doran, Ira T Lott, Ann-Charlotte Granholm
INTRODUCTION: Individuals with Down syndrome (DS) exhibit Alzheimer's disease (AD) neuropathology and dementia early in life. Blood biomarkers of AD neuropathology would be valuable, as non-AD intellectual disabilities of DS and AD dementia overlap clinically. We hypothesized that elevations of amyloid-β (Aβ) peptides and phosphorylated-tau in neuronal exosomes may document preclinical AD. METHODS: AD neuropathogenic proteins Aβ1-42, P-T181-tau, and P-S396-tau were quantified by enzyme-linked immunosorbent assays in extracts of neuronal exosomes purified from blood of individuals with DS and age-matched controls...
October 15, 2016: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
Ayako Uchinaka, Yuri Kawashima, Yuki Sano, Mamoru Yoneda, Shogo Ito, Yusuke Sano, Kai Nagasawa, Natsumi Matsuura, Yuichiro Yamada, Toyoaki Murohara, Kohzo Nagata
OBJECTIVE: The pineal hormone melatonin, which regulates the body's circadian rhythm, possesses anti-oxidative and anti-inflammatory effects and thereby improves metabolic disorders. Ramelteon is a potent and highly selective agonist of melatonin receptors and attenuates age-associated hypertension and body weight gain in spontaneously hypertensive rats. However, the effects of ramelteon on cardiovascular and metabolic disorders in metabolic syndrome (MetS) remain unclear. We investigated the effects of ramelteon on cardiac and adipose tissue pathology in a rat model of MetS...
September 2016: Journal of Hypertension
Jeffrey Fagen, Phyllis Ohr, Kimberly Boller
In this article, we reflect upon Carolyn Rovee-Collier's pioneering research on learning and memory in infants, especially that using the mobile conjugate reinforcement task, for our understanding of (a) cognitive development in infants born prematurely and those with Down's syndrome and (b) her prediction that infants' performance in the mobile conjugate reinforcement and similar operant tasks would predict later intellectual functioning. We then examine the implications of her research on time windows (the integration of new information into a memory) and memory reactivation (the retrieval of a forgotten memory as a result of the re-exposure to a component of the original learning experience) for early intervention programs and clinicians treating victims of early trauma...
November 2016: Developmental Psychobiology
Keiko Shimojima, Yumiko Ondo, Mayumi Matsufuji, Nozomi Sano, Hisashi Tsuru, Tatsuki Oyoshi, Nayuta Higa, Hiroshi Tokimura, Kazunori Arita, Toshiyuki Yamamoto
A female patient presented with developmental delay, distinctive facial features, and congenital anomalies, including a heart defect and premature lambdoid synostosis. The patient showed a paternally inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving the mitogen-activated protein kinase kinase 2 gene (MAP2K2), in which mutations cause the cardio-facio-cutaneous (CFC) syndrome. Reports of patients with overlapping 19p13.3 microdeletions of this region describe similar clinical manifestations including distinctive facial features: prominent forehead, horizontal/down-slanting palpebral fissures, long midface, pointed chin/angular jaw, sparse eyebrows, and underdeveloped cheekbones...
October 14, 2016: European Journal of Medical Genetics
Anita F Oliveira, Aline Tansini, Daniel O Vidal, Luiz F Lopes, Konradin Metze, Irene Lorand-Metze
BACKGROUND: Immunophenotyping of bone marrow (BM) hemopoietic precursors is useful for diagnosis of adult myelodysplastic syndrome (MDS), but data concerning pediatric patients are limited. We analyzed immunophenotypic features of BM cells at diagnosis of children who were referred to the Brazilian Pediatric Cooperative Group of Myelodysplastic Syndromes. METHODS: Diagnosis was based on clinical information, peripheral blood counts, BM cytology and cytogenetics...
October 17, 2016: Pediatric Blood & Cancer
Dario Gulin, Jozica Sikic, Jasna Cerkez Habek, Sandra Jerkovic Gulin, Edvard Galic
Eosinophilic myocarditis (EM) is a rare and potentially fatal disease if left untreated. Because the disease can have a delayed presentation and can appear even after 2 years, its underlying causes often remain unknown. We report the case of a 63-year-old man with an atypical clinical presentation of hypersensitive EM and significant coronary artery disease, which was confirmed through coronary angiography. The patient was treated with hydrochlorothiazide (12.5 mg once daily for 2 years) and budesonide/formoterol (160/4...
December 2016: Drug Saf Case Rep
Soumen Bera, Sanjay Lamba, Mubasher Rashid, Anuj K Sharma, Alexander B Medvinsky, Claudia Acquisti, Amit Chakraborty, Bai-Lian Li
Impaired glutamate dehydrogenase (GDH) sensitivity to its inhibitors causes excessive insulin secretion by pancreatic beta-cells and defective ammonia metabolism in the liver. These symptoms are commonly associated with hyperinsulinism/hyperammonemia syndrome (HI/HA), which causes recurrent hypoglycaemia in early infancy. Hepatic localization of GDH amination and deamination activities linked with the urea cycle is known to be involved in ammonia metabolism and detoxification. Although deamination activities of hepatic GDH in the periportal zones of liver lobules and its connection to the urea cycle have been exhaustively investigated, physiological roles of GDH amination activity observed at pericentral zones have often been overlooked...
October 17, 2016: Integrative Biology: Quantitative Biosciences From Nano to Macro
Amr Shaaban Hanafy, Amr Talaat El Hawary
Objectives: Evaluation of the outcome and experience in 2 years of management of portal hypertensive gastropathy (PHG) by argon plasma coagulation (APC) in a cohort of Egyptian cirrhotic patients. Methods: This study was conducted over a 2-year period from January 2011 to February 2013. Upper gastrointestinal endoscopy was performed to evaluate the degree and site of PHG. APC was applied to areas with mucosal vascular lesions. Results: In total, 200 cirrhotic patients were enrolled; 12 patients were excluded due to death (n = 6) caused by hepatic encephalopathy (n = 3), hepatorenal syndrome (n = 2), or chronic lymphatic leukemia (n = 1), or did not complete the treatment sessions (n = 6), so 188 patients completed the study...
October 2016: Endoscopy International Open
Erika Herrero-Garcia, John P O'Bryan
Intersectins (ITSNs) are a family of multi-domain proteins involved in regulation of diverse cellular pathways. These scaffold proteins are well known for regulating endocytosis but also play important roles in cell signaling pathways including kinase regulation and Ras activation. ITSNs participate in several human cancers, such as neuroblastomas and glioblastomas, while its downregulation is associated with lung injury. Alterations in ITSN expression have been found in neurodegenerative diseases such as Down Syndrome and Alzheimer's disease...
October 12, 2016: Biochimica et Biophysica Acta
Jan Pieter Marchal, Heleen Maurice-Stam, Bregje A Houtzager, Susanne L Rutgers van Rozenburg-Marres, Kim J Oostrom, Martha A Grootenhuis, A S Paul van Trotsenburg
BACKGROUND: We analysed developmental outcomes from a clinical trial early in life and its follow-up at 10.7 years in 123 children with Down syndrome. AIMS: To determine 1) strengths and weaknesses in adaptive functioning and motor skills at 10.7 years, and 2) prognostic value of early-life characteristics (early developmental outcomes, parental and child characteristics, and comorbidity) for later intelligence, adaptive functioning and motor skills. METHODS AND PROCEDURES: We used standardized assessments of mental and motor development at ages 6, 12 and 24 months, and of intelligence, adaptive functioning and motor skills at 10...
October 13, 2016: Research in Developmental Disabilities
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