keyword
MENU ▼
Read by QxMD icon Read
search

Syndrome

keyword
https://www.readbyqxmd.com/read/28441855/-correlation-between-mismatch-repair-proteins-status-and-clinicopathological-characteristics-in-sporadic-colorectal-cancer-patients
#1
Z T Xiao, R X Zhang, Y Zhao, J H Peng, S X Lu, H Z Zhang, P R Ding, X J Wu, Z H Lu, L R Li, D S Wan, Z Z Pan, G Chen
Objective: To explore the expression of mismatch repair (MMR) proteins in sporadic colorectal cancer (SCRC) patients, and its association with clinicopathological characteristics of SCRC. Methods: Patients with histologically confirmed colorectal cancer were consecutively recruited between December 2011 and June 2015 at Sun Yat-sen University Cancer Center. The exclusion criteria included multiple primary colorectal tumors, hereditary colorectal cancer (including Lynch syndrome, familial adenomatous polyposis), and the patients without the MMR proteins status tested...
April 25, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28441852/-clinical-presentation-of-kleine-levin-syndrome
#2
Y Hu, J Y Wang, X S Dong, J Li, H Yan, P P Wang, L Zhao, X Z Zhang, F Han
Objective: To analyze the clinical features of Kleine-Levin syndrome (KLS) patients. Methods: Clinical data of 44 patients with KLS of the Sleep Center of Peking University People's Hospital from January 2002 to July 2013 were systematically reviewed. The predisposing factors and clinical presentations were summarized, and compared with the data from a Western KLS study with a large subjects number. Nocturnal polysomnography (PSG) and multiple sleep latency test (MSLT) were conducted during relapse and remission period, respectively...
April 25, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28441842/-analysis-of-funding-of-projects-on-obstetrics-and-gynecology-supported-by-national-natural-science-foundation-of-china-from-2007-to-2016
#3
S H Qin, Q S Huang, S Z Yao
Objective: To summarize the funding of scientific research projects on obstetrics and gynecology by National Natural Science Foundation of China (NSFC) from 2007 to 2016 and to display the hotspots of scientific research on obstetrics and gynecology. Methods: A systemic search was performed for the information of projects supported by NSFC from 2007 to 2016. The indicators for analysis included the number of projects, total investment, project categories, research units and research field. The research direction of each project was decided based on title, summary and key words provided by the profile of each project...
April 25, 2017: Zhonghua Fu Chan Ke za Zhi
https://www.readbyqxmd.com/read/28441831/-a-case-of-creatine-deficiency-syndromes-caused-by-gamt-gene-mutation
#4
L Yang, F Fang
No abstract text is available yet for this article.
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28441830/-a-case-of-tricho-hepato-enteric-syndrome
#5
J J Chen, L P Shi
No abstract text is available yet for this article.
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28441829/-primary-ciliary-dyskinesia-with-hydin-gene-mutations-in-a-child-and-literature-review
#6
L L Chen, Y G Yang, J Z Wu, X R Chen
Objective: To review children's primary ciliary dyskinesia (PCD) in the pathogenesis, clinical manifestation, diagnosis and treatment. Method: To summarize and analyze the clinical data of a patient who was admitted to the first affiliated hospital of Xiamen University with primary ciliary dyskinesia in April 2014 while referring to related literature. Result: An 11 years old boy, weighting about 22 kg, had a course of more than 10 years with repeated cough, stuffy and runny nose shortly after the birth. Examinations after admission to hospital showed that he presented with visible clubbing, bilateral paranasal sinus area tenderness, pharynx posterior wall with visible yellow pussy stuff drip and bilateral lung had scattered wet rales...
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28441824/-clinical-and-neuroimaging-features-of-acute-encephalopathy-after-status-epilepticus-in-dravet-syndrome
#7
X J Tian, Y H Zhang, A J Liu, X L Yang, Q Zeng, Z X Yang, J T Ye, X Y Liu, Y W Jiang, X R Wu
Objective: To investigate the clinical and neuroimaging characteristics of acute encephalopathy (AE) after status epilepticus (SE) of patients with Dravet syndrome (DS). Method: The clinical data of DS patients who had AE (coma ≥24 h) after SE were retrospectively collected from February 2005 to August 2016 in Peking University First Hospital and SCN1A gene tests were performed.The clinical and neuroimaging features were summarized. Result: Twenty-two patients (9 males and 13 females) with AE were collected among 412 DS patients during follow-up...
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28441822/-clinical-features-and-outcomes-of-radiofrequency-catheter-ablation-of-atrial-flutter-in-children
#8
H Jiang, X M Li, Y Zhang, H J Liu, M T Li, H Y Ge
Objective: To explore the clinical features of atrial flutter (AFL) and evaluate the efficacy of radiofrequency catheter ablation (RFCA) for AFL in children. Method: Data were collected and analyzed on 50 consecutive pediatric AFL patients (male 37/female 13) who underwent electrophysiology study and RFCA from February 2009 to November 2016 in a case observational study. The average age was (6.2±3.5) years and body weight was (23.7±13.5) kg. Heart structure was normal in 26 patients. Twenty-four patients had congenital heart disease (CHD) and among them 22 patients underwent repaired surgery before...
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28441720/association-of-polyphenol-biomarkers-with-cardiovascular-disease-and-mortality-risk-a-systematic-review-and-meta-analysis-of-observational-studies
#9
REVIEW
Johanna Rienks, Janett Barbaresko, Ute Nöthlings
Epidemiologic studies have suggested an inverse association between flavonoids and cardiovascular disease (CVD). However, the results might have been influenced by the use of dietary assessment methods, which are error prone. The aim of this paper was to systematically review and analyse the literature for evidence of associations between polyphenol biomarkers and CVD and mortality risk in observational studies. Eligible studies were identified through PubMed, Web of Science, and reference lists. Multivariable adjusted associations were extracted...
April 22, 2017: Nutrients
https://www.readbyqxmd.com/read/28441694/arterial-stiffness-is-increased-in-nondiabetic-nonhypertensive-postmenopausal-women-with-nonalcoholic-fatty-liver-disease
#10
Xia Li, HuiRong Shi, Zhuo Wang, Lei Chang, MingHui Zhang, XiaoFang Dong
OBJECTIVES: The purpose of this study was to assess the relationship between nonalcoholic fatty liver disease (NAFLD) and arterial stiffness in nondiabetic, nonhypertensive postmenopausal women with and without metabolic syndrome. METHODS: We divided 1007 postmenopausal women into two groups (NAFLD and controls) and then three groups (NAFLD with metabolic syndrome, NAFLD without metabolic syndrome, and controls), respectively. To exclude the influence of confounding factors, we studied a specifically selected group with no additional cardiovascular risk...
June 2017: Journal of Hypertension
https://www.readbyqxmd.com/read/28441693/sex-differences-in-fat-distribution-influence-the-association-between-bmi-and-arterial-stiffness
#11
Inge C L van den Munckhof, Suzanne Holewijn, Jacqueline de Graaf, Joost H W Rutten
CONTEXT AND OBJECTIVE: The increase in arterial stiffness in patients with the metabolic syndrome is strongly related to the amount of visceral adipose tissue. In clinical practice, anthropometric measurements such as BMI and waist circumference are commonly used to assess general and abdominal adiposity. Waist circumference is a composite measure of subcutaneous and visceral abdominal adipose tissue. As the distribution of intra-abdominal fat differs between men and women, we investigated the sex-specific associations between different anthropometric measures for general and abdominal obesity with arterial stiffness...
June 2017: Journal of Hypertension
https://www.readbyqxmd.com/read/28441623/identification-of-a-macrobrachium-nipponense-c-type-lectin-with-a-close-evolutionary-relationship-to-vertebrate-lectins
#12
Xin Huang, Tingting Li, Min Jin, Shaowu Yin, Wen Wang, Qian Ren
C-type lectins (CTLs) are involved in the innate immune defense of vertebrates and invertebrates against invading pathogens. This study cloned and characterized a novel C-type lectin (MnCTL) of the oriental river prawn, Macrobrachium nipponense. The cloned MnCTL cDNA encompasses an open reading frame of 774 nucleotides and encodes polypeptides of 257 residues. The deduced MnCTL protein contains a single carbohydrate recognition domain (CRD) with an EPN (Glu-Pro-Asn) motif in calcium-binding site 2. Phylogenetic analysis indicated that MnCTL has a closer evolutionary relationship with vertebrate lectins than with invertebrate lectins...
April 22, 2017: Molecular Immunology
https://www.readbyqxmd.com/read/28441593/a-comprehensive-evaluation-of-the-environmental-quality-of-a-coastal-lagoon-ravenna-italy-integrating-chemical-and-physiological-analyses-in-mussels-as-a-biomonitoring-strategy
#13
Marco Capolupo, Silvia Franzellitti, Alisar Kiwan, Paola Valbonesi, Enrico Dinelli, Emanuela Pignotti, Manfred Birke, Elena Fabbri
This study aimed at evaluating the environmental quality of a coastal lagoon (Pialassa Piomboni, NW-Adriatic, Italy) by combining analyses of biomarkers of environmental stress and bioaccumulation of contaminants in marine mussels (Mytilus galloprovincialis) transplanted for 28days to six selected sites. Assessed biomarkers encompassed lysosomal endpoints, oxidative stress and detoxification parameters, specific responses to metals, neuro- and genotoxic substances; chemical analyses focused on PAHs, metals, pesticide and pharmaceuticals...
April 22, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28441561/neural-circuits-reduced-inhibition-in-fragile-x-syndrome
#14
Randall M Golovin, Kendal Broadie
The Drosophila Fragile X Syndrome model has long generated insights into this devastating neurological disease state. A recent study of olfactory neural circuitry shows that decreased lateral inhibition onto projection neurons relaying sensory input into higher brain centers causes impaired behavior.
April 24, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28441461/sliding-scale-hcg-trigger-yields-equivalent-pregnancy-outcomes-and-reduces-ovarian-hyperstimulation-syndrome-analysis-of-10-427-ivf-icsi-cycles
#15
Vinay Gunnala, Alexis Melnick, Mohamad Irani, David Reichman, Glenn Schattman, Owen Davis, Zev Rosenwaks
OBJECTIVE: To evaluate pregnancy outcomes and the incidence of ovarian hyperstimulation syndrome (OHSS) using a sliding scale hCG protocol to trigger oocyte maturity and establish a threshold level of serum b-hCG associated with optimal oocyte maturity. DESIGN: Retrospective cohort. SETTING: Academic medical center. PATIENTS: Fresh IVF cycles from 9/2004-12/2011. INTERVENTION: 10,427 fresh IVF-ICSI cycles met inclusion criteria...
2017: PloS One
https://www.readbyqxmd.com/read/28441456/genome-wide-association-study-of-facial-morphology-reveals-novel-associations-with-frem1-and-park2
#16
Myoung Keun Lee, John R Shaffer, Elizabeth J Leslie, Ekaterina Orlova, Jenna C Carlson, Eleanor Feingold, Mary L Marazita, Seth M Weinberg
Several studies have now shown evidence of association between common genetic variants and quantitative facial traits in humans. The reported associations generally involve simple univariate measures and likely represent only a small fraction of the genetic loci influencing facial morphology. In this study, we applied factor analysis to a set of 276 facial linear distances derived from 3D facial surface images of 2187 unrelated individuals of European ancestry. We retained 23 facial factors, which we then tested for genetic associations using a genome-wide panel of 10,677,593 single nucleotide polymorphisms (SNPs)...
2017: PloS One
https://www.readbyqxmd.com/read/28441409/a-hypomorphic-piga-gene-mutation-causes-severe-defects-in-neuron-development-and-susceptibility-to-complement-mediated-toxicity-in-a-human-ipsc-model
#17
Xuan Yuan, Zhe Li, Andrea C Baines, Eleni Gavriilaki, Zhaohui Ye, Zhexing Wen, Evan M Braunstein, Leslie G Biesecker, Linzhao Cheng, Xinzhong Dong, Robert A Brodsky
Mutations in genes involved in glycosylphosphatidylinositol (GPI) anchor biosynthesis underlie a group of congenital syndromes characterized by severe neurodevelopmental defects. GPI anchored proteins have diverse roles in cell adhesion, signaling, metabolism and complement regulation. Over 30 enzymes are required for GPI anchor biosynthesis and PIGA is involved in the first step of this process. A hypomorphic mutation in the X-linked PIGA gene (c.1234C>T) causes multiple congenital anomalies hypotonia seizure syndrome 2 (MCAHS2), indicating that even partial reduction of GPI anchored proteins dramatically impairs central nervous system development, but the mechanism is unclear...
2017: PloS One
https://www.readbyqxmd.com/read/28441404/angiopoietin-like-4-and-minimal-change-disease
#18
Gabriel Cara-Fuentes, Alfons Segarra, Cecilia Silva-Sanchez, Heiman Wang, Miguel A Lanaspa, Richard J Johnson, Eduardo H Garin
BACKGROUND: Minimal Change Disease (MCD) is the most common type of nephrotic syndrome in children. Angiopoietin-like-4 (Angplt4) has been proposed as mediator of proteinuria in MCD. The aim of this study was to evaluate the role of Angptl4 as a biomarker in MCD. METHODS: Patients with biopsy-proven primary MCD, focal segmental glomerulosclerosis, membranous nephropathy (60, 52 and 52 respectively) and 18 control subjects had urinary and serum Angptl4 measured by Elisa...
2017: PloS One
https://www.readbyqxmd.com/read/28441377/cd4-positive-t-cell-large-granular-lymphocytosis-mimicking-sezary-syndrome-in-a-patient-with-mycosis-fungoides
#19
Ling Zhang, Magali Van den Bergh, Lubomir Sokol
A white woman aged 65 years presented with a macular, nonscaly, nonpruritic, erythematous lesion on her right breast. Test results revealed histological features similar to lichenoid dermatitis and early-phase primary cutaneous T-cell lymphoma with a subtype of mycosis fungoides (MF). Despite topical therapy with steroids, her skin disease continued to progress, so she underwent polymerase chain reaction and gene mutation testing. Two missense mutations were detected. The overall findings supported a diagnosis of co-occurring, CD4-positive large granular lymphocytosis and stage IA MF...
April 2017: Cancer Control: Journal of the Moffitt Cancer Center
https://www.readbyqxmd.com/read/28441336/neurobehavioral-outcomes-of-mild-traumatic-brain-injury-a-mini-review
#20
REVIEW
Robert Eme
Traumatic brain injury outcomes can be classified as acute or chronic. Acute outcomes refer to injuries that occur immediately at the time of the injury and subsequent short-term consequences. Chronic outcomes refer to adverse outcomes that are more long-term. In mild traumatic brain injury, recovery from acute outcomes typically occurs very rapidly, i.e., within 2 weeks, with full recovery expected by 90 days. However, some 10%-15% individuals can remain symptomatic for much longer with an outcome termed post-concussive syndrome...
April 25, 2017: Brain Sciences
keyword
keyword
2039
1
2
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"