Read by QxMD icon Read


Andrea Giacomini, Fiorenza Stagni, Marco Emili, Sandra Guidi, Maria Elisa Salvalai, Mariagrazia Grilli, Veronica Vidal-Sanchez, Carmen Martinez-Cué, Renata Bartesaghi
Individuals with Down syndrome (DS), a genetic condition due to triplication of Chromosome 21, are characterized by intellectual disability that worsens with age. Since impairment of neurogenesis and dendritic maturation are very likely key determinants of intellectual disability in DS, interventions targeted to these defects may translate into a behavioral benefit. While most of the neurogenesis enhancers tested so far in DS mouse models may pose some caveats due to possible side effects, substances naturally present in the human diet may be regarded as therapeutic tools with a high translational impact...
June 20, 2018: Brain Research Bulletin
E Y Zernii, V E Baksheev, E I Kabanova, V V Tiulina, M O Golovastova, O S Gancharova, M S Savchenko, L F Sotikova, A A Zamyatnin, P P Filippov, I I Senin
Changes in the biochemical composition of the tear film is a critical risk factor for the development of chronic perioperative dry eye syndrome, because increasing the duration of general anesthesia did not affect the dynamics of tear secretion recovery, but slowed down normalization of its structure and antioxidant activity in the post-anesthetic period.
June 21, 2018: Bulletin of Experimental Biology and Medicine
Jorge L Alio, Alfredo Vega-Estrada, Pablo Sanz, Amr A Osman, Ahmed M Kamal, Amr Mamoon, Hany Soliman
Importance: Literature suggests corneal morphologic characteristics compatible with keratoconus are present in a high percentage of patients with Down syndrome (DS), suggesting the need to perform a detailed examination of the anterior segment to try to avoid serious visual impairment in this group of patients. Objective: To characterize the abnormal features of the cornea in patients with DS and compare these with a control group. Design, Setting, and Participants: Multicenter case-control study at Vissum Alicante, Alicante, Spain, and the Ophthalmology and Pediatric Department, Cairo University, Cairo, Egypt...
June 21, 2018: JAMA Ophthalmology
Perry S Binder
No abstract text is available yet for this article.
June 21, 2018: JAMA Ophthalmology
Lauren T Ptomey, Amanda N Szabo, Erik A Willis, J Leon Greene, Jessica C Danon, Richard A Washburn, Daniel E Forsha, Joseph E Donnelly
Purpose: Adults with Down syndrome are less physically active than their typically developed peers. The purpose of this study was to assess the feasibility of delivering moderate-to- vigorous exercise sessions, led by a trained health educator using real-time video conferencing, to groups of young adults with Down syndrome in their homes. Methods: Participants were randomized to 30-minute group exercise sessions either 1 or 2 times a week delivered on an iPad mini tablet computer using the Zoom video conferencing application, and were asked to attend individual support/education sessions once a week using FaceTime® on the iPad, for 12 weeks...
April 15, 2018: Translational Journal of the American College of Sports Medicine
Marsha Michie, Megan Allyse
PURPOSE: In considering gene modification technologies, the priorities of patient communities must be a central consideration. The purpose of this study is to assess views of families with Down syndrome (DS) regarding potential genome-based interventions. METHODS: We constructed an anonymous online survey for family members of people with DS. Participants were asked to agree or disagree with scenarios describing hypothetical interventions to silence or significantly alter the physical and cognitive effects of a trisomy 21, and also with scenarios depicting currently available physical interventions...
June 21, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Hung-Cheng Tsai, Tzu-Hao Li, Chia-Chang Huang, Shiang-Fen Huang, Ren-Shyan Liu, Ying-Ying Yang, Yun-Cheng Hsieh, Kuei-Chuan Lee, Yi-Hsiang Huang, Ming-Chih Hou, Han-Chieh Lin
Recent studies have reported that peroxisome proliferator-activated receptor α (PPARα) agonist decreases intrahepatic resistance, whereas PPARγ agonist reduces portosystemic shunts (PSSs) and splanchnic angiogenesis in cirrhotic rats. The present study investigated the effects of a 21-day treatment with the dual PPARα/γ agonist aleglitazar (Ale) on progressive abnormalities in bile-duct-ligated and thioacetamide-induced cirrhotic rats with portal hypertension (PH). In vivo and in vitro effects were evaluated...
June 13, 2018: American Journal of Pathology
Krutika Joshi, Lily Shen, Feng Cao, Susan Dong, Zhengping Jia, Miguel A Cortez, O Carter Snead
OBJECTIVE: Infantile spasms (IS) is a catastrophic childhood seizure disorder that is characterized by extensor and/or flexor spasms, cognitive deterioration and a characteristic EEG abnormality. The latter consists of a pattern of a spike-wave followed by an electrodecremental response (EDR), which is a flattening of the EEG waveform amplitude. The mechanism/circuitry that underpins IS is unknown. Children with Down Syndrome (DS) are particularly vulnerable to IS. The standard mouse model of DS is the Ts65Dn mutant mouse (Ts)...
June 12, 2018: Epilepsy Research
Metta Dulk, Balint Szeder, Gabor Glatz, Balazs Mero, Kitti Koprivanacz, Gyongyi Kudlik, Virag Vas, Szabolcs Sipeki, Anna Cserkaszky, László Radnai, Laszlo Buday
The non-receptor tyrosine kinase Src is a central component of the EGF signaling pathway. Our group recently showed that the Frank-ter Haar syndrome protein Tks4 (tyrosine kinase substrate with four Src homology 3 domains) is also involved in EGF signaling. Here we demonstrate that Tks4 and Src bind directly to each other and elucidate the details of the molecular mechanism of this complex formation. Results of GST pull-down and fluorescence polarization assays show that both a proline-rich SH3 binding motif (PSRPLPDAP, residues: 466-474) and an adjacent phosphotyrosine-containing SH2 binding motif (pYEEI, residues: 508-511) in Tks4 are responsible for Src binding...
June 21, 2018: Biochemistry
Nicholas C Firth, Carla M Startin, Rosalyn Hithersay, Sarah Hamburg, Peter A Wijeratne, Kin Y Mok, John Hardy, Daniel C Alexander, André Strydom
Objective: Individuals with Down syndrome (DS) have an extremely high genetic risk for Alzheimer's disease (AD), however, the course of cognitive decline associated with progression to dementia is ill-defined. Data-driven methods can estimate long-term trends from cross-sectional data while adjusting for variability in baseline ability, which complicates dementia assessment in those with DS. Methods: We applied an event-based model to cognitive test data and informant-rated questionnaire data from 283 adults with DS (the largest study of cognitive functioning in DS to date) to estimate the sequence of cognitive decline and individuals' disease stage...
June 2018: Annals of Clinical and Translational Neurology
Zhifang Zhang, Jinong Feng, Allen Mao, Keith Le, Deirdre La Placa, Xiwei Wu, Jeffrey Longmate, Claudia Marek, R Paul St Amand, Susan L Neuhausen, John E Shively
BACKGROUND: Fibromyalgia (FM) is a chronic pain syndrome with a high incidence in females that may involve activation of the immune system. We performed exome sequencing on chemokine genes in a region of chromosome 17 identified in a genome-wide family association study. METHODS AND FINDINGS: Exome sequence analysis of 100 FM probands was performed at 17p13.3-q25 followed by functional analysis of SNPs found in the chemokine gene locus. Missense SNPs (413) in 17p13...
2018: PloS One
Chanane Wanapirak, Wirawit Piyamomgkol, Supatra Sirichotiyakul, Fuanglada Tongprasert, Kasemsri Srisupundit, Suchaya Luewan, Kuntharee Traisrisilp, Phudit Jatavan, Theera Tongsong
OBJECTIVE: To determine the effectiveness of second-trimester maternal serum screening (MSS) for Down syndrome as a screening test for fetal hemoglobin (Hb) Bart's disease among an unselected population. METHODS: A secondary analysis of a large prospective database (20,254 pregnancies) was conducted to compare the levels of MSS, alpha-fetoprotein (AFP), free beta-human chorionic gonadotropin (hCG) and unconjugated estriol (uE3) between pregnancies with Hb Bart's disease and unaffected pregnancies...
June 21, 2018: Prenatal Diagnosis
Hai-Ping Zhao, Ping Liu, Chang-Min Xu, Guang-Wen Li, Li Gao, Yu-Min Luo
OBJECTIVE: To identify the differentially expressed microRNAs (miRNAs) profiles of yang and yin syndromes in patients with acute ischemic stroke, and to provide the molecular basis of the classififi cation of these two syndrome types in acute ischemic stroke patients. METHODS: A microarray assay was performed to assess the expression pattern of miRNAs in the lymphocyte of acute ischemic stroke patients. Target genes for the deregulated miRNAs were predicated using the online bioinformatic algorithms and functional annotation via Kyoto encyclopedia of genes and genomes pathway analysis for miRNAs predicted targets was carried out...
June 20, 2018: Chinese Journal of Integrative Medicine
Zeynep Tüfekçioğlu, Haşmet Hanağası, Gül Yalçın Çakmaklı, Bülent Elibol, Figen Esmeli Tokuçoğlu, Zeynep Ece Kaya, Sibel Ertan, Sibel Özekmekçi, Murat Emre
INTRODUCTION: Experience about the use and safety of anti-Parkinson (anti-PD) medication during pregnancy is scarce. METHODS: We have retrospectively evaluated the course and outcome of pregnancy in PD patients who used anti-PD medication during their pregnancy. RESULTS: 14 PD patients who used anti-PD medication during part or whole of their pregnancy were included. Dopamine agonists were used in 13 patients, levodopa/benserazide in 4, levodopa/carbidopa/entacapone in 1, rasagiline in 7, amantadine in 4, and biperiden in 1 patient...
June 20, 2018: Journal of Neurology
Lijian Shao, Jianhui Chang, Wei Feng, Xiaoyan Wang, Elizabeth A Williamson, Ying Li, Amir Schajnovitz, David Scadden, Luke J Mortensen, Charles P Lin, Linheng Li, Ariel Paulson, James Downing, Daohong Zhou, Robert A Hromas
The transition of hematopoiesis from the fetal liver (FL) to the bone marrow (BM) is incompletely characterized. We demonstrate that the Wiskott-Aldrich syndrome verprolin-homologous protein (WAVE) complex 2 is required for this transition, as complex degradation via deletion of its scaffold Hem-1 causes the premature exhaustion of neonatal BM hematopoietic stem cells (HSCs). This exhaustion of BM HSC is due to the failure of BM engraftment of Hem-1-/- FL HSCs, causing early death. The Hem-1-/- FL HSC engraftment defect is not due to the lack of the canonical function of the WAVE2 complex, the regulation of actin polymerization, because FL HSCs from Hem-1-/- mice exhibit no defects in chemotaxis, BM homing, or adhesion...
June 18, 2018: Nature Communications
Cuiling Lu, Hongbin Chi, Yapeng Wang, Xue Feng, Lina Wang, Shuo Huang, Liying Yan, Shengli Lin, Ping Liu, Jie Qiao
In an attempt to explore the early developmental arrest in embryos from polycystic ovarian syndrome (PCOS) patients, we sequenced the transcriptome profiles of PCOS arrested 2-cell embryos, non-PCOS arrested 2-cell embryos and non-arrested 2-cell embryos using single-cell RNA-Seq technique. Differential expression analysis was performed using the DEGSeq R package. Gene Ontology (GO) enrichment was analyzed using the GOseq R package. Data revealed 62 differentially expressed genes between non-PCOS arrested and PCOS arrested embryos and 2217 differentially expressed genes between PCOS arrested and non-arrested 2-cell embryos...
June 18, 2018: Cell Cycle
Wei Shen, Ru Ba, Yan Su, Yang Ni, Dongsheng Chen, Wei Xie, Samuel J Pleasure, Chunjie Zhao
Abnormalities in cortical interneurons are closely associated with neurological diseases. Most patients with Foxg1 syndrome experience seizures, suggesting a possible role of Foxg1 in the cortical interneuron development. Here, by conditional deletion of Foxg1, which was achieved by crossing Foxg1fl/fl with the Gad2-CreER line, we found the postnatal distributions of somatostatin-, calretinin-, and neuropeptide Y-positive interneurons in the cortex were impaired. Further investigations revealed an enhanced dendritic complexity and decreased migration capacity of Foxg1-deficient interneurons, accompanied by remarkable downregulation of Dlx1 and CXCR4...
April 18, 2018: Cerebral Cortex
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
Rabail Raza, Kumail Khandwala, Hafsa Qayyum, Muhammad Anwar Saeed, Anwar Ahmed
Crossed or "crisscross" pulmonary arteries (CPA) are a result of an anomalous origin and course of both the pulmonary arteries from the main pulmonary trunk in which the left pulmonary artery (PA) ostium usually lies directly superior and to the right PA ostium after which they cross each other and supply their respective lungs. This condition is usually associated with conotruncal malformations and genetic syndromes. We describe a case report of an infant, suspected to have Down syndrome, who was diagnosed with CPA and coarctation of aorta on computed tomography (CT) angiography...
April 13, 2018: Curēus
P Y Billie Au, Caitlin Goedhart, Marcia Ferguson, Jeroen Breckpot, Koenraad Devriendt, Klaas Wierenga, Elizabeth Fanning, Dorothy K Grange, Gail E Graham, Carolina Galarreta, Marilyn C Jones, Usha Kini, Helen Stewart, Jillian S Parboosingh, Antonie D Kline, A Micheil Innes
Au-Kline syndrome (AKS, OMIM 616580) is a multiple malformation syndrome, first reported in 2015, associated with intellectual disability. AKS has been associated with de novo loss-of-function variants in HNRNPK (heterogeneous ribonucleoprotein K), and to date, only four of these patients have been described in the literature. Recently, an additional patient with a missense variant in HNRNPK was also reported. These patients have striking facial dysmorphic features, including long palpebral fissures, ptosis, deeply grooved tongue, broad nose, and down-turned mouth...
June 14, 2018: European Journal of Human Genetics: EJHG
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"