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https://www.readbyqxmd.com/read/28533537/novel-mutations-and-phenotypic-associations-identified-through-apc-mutyh-nthl1-pold1-pole-gene-analysis-in-indian-familial-adenomatous-polyposis-cohort
#1
Nikhat Khan, Anuja Lipsa, Gautham Arunachal, Mukta Ramadwar, Rajiv Sarin
Colo-Rectal Cancer is a common cancer worldwide with 5-10% cases being hereditary. Familial Adenomatous Polyposis (FAP) syndrome is due to germline mutations in the APC or rarely MUTYH gene. NTHL1, POLD1, POLE have been recently reported in previously unexplained FAP cases. Unlike the Caucasian population, FAP phenotype and its genotypic associations have not been widely studied in several geoethnic groups. We report the first FAP cohort from South Asia and the only non-Caucasian cohort with comprehensive analysis of APC, MUTYH, NTHL1, POLD1, POLE genes...
May 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28529976/de-novo-generation-and-characterization-of-new-zika-virus-isolate-using-sequence-data-from-a-microcephaly-case
#2
Yin Xiang Setoh, Natalie A Prow, Nias Peng, Leon E Hugo, Gregor Devine, Jessamine E Hazlewood, Andreas Suhrbier, Alexander A Khromykh
Zika virus (ZIKV) has recently emerged and is the etiological agent of congenital Zika syndrome (CZS), a spectrum of congenital abnormalities arising from neural tissue infections in utero. Herein, we describe the de novo generation of a new ZIKV isolate, ZIKVNatal, using a modified circular polymerase extension reaction protocol and sequence data obtained from a ZIKV-infected fetus with microcephaly. ZIKVNatal thus has no laboratory passage history and is unequivocally associated with CZS. ZIKVNatal could be used to establish a fetal brain infection model in IFNAR(-/-) mice (including intrauterine growth restriction) without causing symptomatic infections in dams...
May 2017: MSphere
https://www.readbyqxmd.com/read/28528685/igf-i-deficiency-longevity-and-cancer-protection-of-patients-with-laron-syndrome
#3
REVIEW
Zvi Laron, Rivka Kauli, Lena Lapkina, Haim Werner
Laron syndrome (LS) is a unique model of congenital IGF-I deficiency. It is characterized by dwarfism and obesity, and is caused by deletion or mutations of the growth hormone receptor (GH-R) gene. It is hypothesized that LS is an old disease originating in Indonesia and that the mutated gene spread to South Asia, the Middle East, the Mediterranean region and South America.
April 2017: Mutation Research
https://www.readbyqxmd.com/read/28523047/alpha-thalassemia-deletions-found-in-suspected-cases-of-beta-thalassemia-major-in-pakistani-population
#4
Saba Shahid, Muhammad Nadeem, Danish Zahid, Jawad Hassan, Saqib Ansari, Tahir Shamsi
BACKGROUND & OBJECTIVE: Alpha (α) thalassemia is a hereditary disorder and is caused by deletions or mutations in globin genes. It is present in two clinically significant forms: hemoglobin Bart hydrops fetalis (Hb Bart) syndrome and hemoglobin H (HbH) disease. It is highly prevalent in South-East Asia or Mediterranean countries. The most common deletion reported in alpha thalassemia in Pakistani population was -α(3.7) with a frequency of 8.3%, and the rare forms were -α(4.2) (0.2%) and ααα(anti3...
March 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/28520997/resistant-pathogens-as-causes-of-traveller-s-diarrhea-globally-and-impact-s-on-treatment-failure-and-recommendations
#5
David R Tribble
Background: : Diarrhea is a frequent clinical syndrome affecting international travellers. Bacterial etiologic agents have a long history of emergent antimicrobial resistance against commonly used antibiotics. Current approaches applying first-line antimicrobial therapy are being challenged by increasingly resistant organisms. This review summarizes recent epidemiological and clinical evidence of antibiotic resistance among enteropathogens causing traveller's diarrhea and the subsequent impact on current treatment recommendations...
April 1, 2017: Journal of Travel Medicine
https://www.readbyqxmd.com/read/28520200/hepatic-infiltration-by-silicone-in-a-patient-with-asia-syndrome
#6
Iván Posso-Osorio, Tatiana Méndez-Rayo, Carlos Andrés Jiménez, Diana Escobar, Mauricio Sepúlveda, Erika Navarro, Gabriel J Tobón
No abstract text is available yet for this article.
May 18, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28511428/incidence-of-metabolic-syndrome-in-patients-admitted-to-medical-wards-with-st-elevation-myocardial-infarction
#7
Bijilesh Uppalakal, Lekshmi Sankar Karanayil
INTRODUCTION: Metabolic Syndrome (MS) consists of a cluster of metabolic abnormalities that confer exaggerated risk of cardiovascular disease. MS is a novel risk factor for Coronary Artery Disease (CAD) and is a rising disease entity in Asia. Incidence of ST Elevation Myocardial Infarction (STEMI) is high in patients with MS. There is limited data on prevalence of MS in patients with Acute Myocardial Infarction (AMI). AIM: To determine frequency of MS in patients admitted with STEMI...
March 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28503508/carbohydrate-composition-associated-with-the-2-year-incidence-of-metabolic-syndrome-in-korean-adults
#8
Nam H Cho, Ara K Cho, Hyun Kyu Kim, Jong Bae Kim, Kyung Eun Lee, Sung Soo Kim, Yeon-Jung Kim, Hak C Jang, Inkyung Baik
The aim of this study was to investigate the association between macronutrient composition and metabolic syndrome (MetS) incidence in Korean adults. Data were obtained from a cohort of 10,030 members aged 40 to 69 years who were enrolled from the 2 cities (Ansung and Ansan) between 2001 and 2002 to participate in the Korean Genome Epidemiology Study. Of these members, 5,565 participants, who were free of MetS and reported no diagnosis of cardiovascular disease at baseline, were included in this study. MetS was defined using the criteria of the National Cholesterol Education Program-Adult Treatment Panel III and Asia-Pacific criteria for waist circumference...
April 2017: Clinical Nutrition Research
https://www.readbyqxmd.com/read/28502333/zika-virus-epidemiology-pathogenesis-and-human-disease
#9
REVIEW
Elizabeth K Nugent, Anne K Nugent, Rebecca Nugent, Kenneth Nugent
The Zika virus is a positive sense, single-stranded RNA arbovirus in the Flaviviridae family, genus Flavivirus. This virus was initially isolated in Africa and is transmitted to nonhuman primates and humans by mosquitoes. Initial reports describe sporadic mild viral infection with fever, arthralgia, myalgia and conjunctivitis in Africa and Asia. However, its geographic distribution has significantly increased, and it has caused large outbreaks in the Yap Islands in 2007, in French Polynesia in 2013 and in Brazil in 2015...
May 2017: American Journal of the Medical Sciences
https://www.readbyqxmd.com/read/28497589/the-asia-pacific-colorectal-screening-score-is-useful-to-stratify-risk-for-colorectal-advanced-neoplasms-in-vietnamese-patients-with-irritable-bowel-syndrome
#10
Duc Trong Quach, Toru Hiyama, Thu Anh Nguyen, Hoa Quoc Ly, Shinji Tanaka
BACKGROUND: The Asia Pacific Colorectal Screening (APCS) score has been validated in several populations but not yet in patients with irritable bowel syndrome (IBS). AIM: To assess the performance of APCS score in stratifying risk of colorectal advanced neoplasms (CAN) in Vietnamese IBS patients. METHODS: Consecutive patients who fulfilled IBS diagnosis criteria according to the Rome III were prospectively enrolled and underwent colonoscopy...
May 11, 2017: Journal of Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28497064/the-effect-of-surgical-intervention-for-delayed-cervical-central-cord-syndrome
#11
Yanan Liu, Zongyi Wang, Shaofeng Yang, Huilin Yang, Jun Zou
The authors retrospectively studied 11 patients with delayed cervical central cord syndrome (CCS) to investigate the efficacy of the surgical intervention on treatment for delayed CCS. The American Spinal Injury Association (ASIA) motor scores, Japanese Orthopedic Association (JOA) scores, SF-36 scores, and neurologic status were analyzed preoperatively and at each time point of postoperative follow-up. The results show that patients with reversible spinal cord injury caused by delayed central cord syndrome can recover significantly after surgical intervention...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28473804/the-complement-system-a-prey-of-trypanosoma-cruzi
#12
REVIEW
Kárita C F Lidani, Lorena Bavia, Altair R Ambrosio, Iara J de Messias-Reason
Trypanosoma cruzi is a protozoan parasite known to cause Chagas disease (CD), a neglected sickness that affects around 6-8 million people worldwide. Originally, CD was mainly found in Latin America but more recently, it has been spread to countries in North America, Asia, and Europe due the international migration from endemic areas. Thus, at present CD represents an important concern of global public health. Most of individuals that are infected by T. cruzi may remain in asymptomatic form all lifelong, but up to 40% of them will develop cardiomyopathy, digestive mega syndromes, or both...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28470589/novel-nfu1-variants-induced-mmds-behaved-as-special-leukodystrophy-in-chinese-sufferers
#13
Danqun Jin, Tian Yu, Le Zhang, Tao Wang, Jun Hu, Yajian Wang, Xiu-An Yang
Multiple mitochondrial dysfunctions syndrome (MMDS) is an autosomal recessive disorder of systemic energy metabolism. This study is to present the diagnosis of two MMDS Chinese sufferers. Physical and auxiliary examination was performed. Next generation sequencing (NGS) was conducted to identify candidate causal genes and Sanger sequencing was adopted to validate the variants detected. Fluorescence quantitative polymerase chain reaction (FQ-PCR) amplification was carried out to testify allelic loss existence...
May 3, 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/28469506/genotype-phenotype-correlation-in-patients-with-germline-mutations-of-vhl-ret-sdhb-and-sdhd-genes-thai-experience
#14
Chutintorn Sriphrapradang, Kitjapong Choopun, Atchara Tunteeratum, Thanyachai Sura
Mutations in the VHL, RET, SDHB, and SDHD genes are responsible for von Hippel-Lindau (VHL) disease, multiple endocrine neoplasia type 2 (MEN2), and familial paraganglioma, respectively. However, genotype-phenotype correlation data are lacking in Southeast Asia. A retrospective medical chart review was performed on patients referred to the genetics service. We found 35 patients diagnosed with clinical syndromes (16 VHL, 9 MEN2, 9 paragangliomas, and 1 neurofibromatosis type 1). In patients with VHL, 5 known VHL mutations were identified: p...
2017: Clinical Medicine Insights. Endocrinology and Diabetes
https://www.readbyqxmd.com/read/28466882/asia-pacific-consensus-statement-on-the-optimal-use-of-high-sensitivity-troponin-assays-in-acute-coronary-syndromes-diagnosis-focus-on-hs-tni
#15
COMMENT
Jack Wei Chieh Tan, Carolyn S P Lam, Sazzli Shahlan Kasim, Tar Choon Aw, Joel M Abanilla, Wei-Ting Chang, Van Phuoc Dang, Maria Iboleon-Dy, Sari Sri Mumpuni, Arintaya Phommintikul, Manh Cuong Ta, Punkiat Topipat, Kai Hang Yiu, Louise Cullen
OBJECTIVE: High-sensitivity troponin (hs-Tn) assays need to be applied appropriately to improve diagnosis and patient outcomes in acute coronary syndromes (ACS). METHODS: Experts from Asia Pacific convened in 2015 to provide data-driven consensus-based, region-specific recommendations and develop an algorithm for the appropriate incorporation of this assay into the ACS assessment and treatment pathway. RESULTS: Nine recommendations were developed by the expert panel: (1) troponin is the preferred cardiac biomarker for diagnostic assessment of ACS and is indicated for patients with symptoms of possible ACS; (2) hs-Tn assays are recommended; (3) serial testing is required for all patients; (4) testing should be performed at presentation and 3 hours later; (5) gender-specific cut-off values should be used for hs-Tn I assays; (6) hs-Tn I level >10 times the upper limit of normal should be considered to 'rule in' a diagnosis of ACS; (7) dynamic change >50% in hs-Tn I level from presentation to 3-hour retest identifies patients at high risk for ACS; (8) where only point-of-care testing is available, patients with elevated readings should be considered at high risk, while patients with low/undetectable readings should be retested after 6 hours or sent for laboratory testing and (9) regular education on the appropriate use of troponin tests is essential...
2017: Heart Asia
https://www.readbyqxmd.com/read/28466365/women-with-silicone-breast-implants-and-autoimmune-inflammatory-syndrome-induced-by-adjuvants-description-of-three-patients-and-a-critical-review-of-the-literature
#16
REVIEW
Slavica Pavlov-Dolijanovic, Nada Vujasinovic Stupar
Silicone has been widely used in the manufacture of medical implants. It is well tolerated in most cases. However, in this paper we report the cases of three women who developed autoimmune/inflammatory syndrome induced by adjuvants (ASIA syndrome), namely with silicone breast implants. The symptoms in these cases include arthralgia, arthritis, myalgia, sleep disturbances, the appearance of autoantibodies, miscarriage, Raynaud's phenomenon, and involvement of autoimmune diseases (scleroderma and undifferentiated connective tissue diseases)...
May 2, 2017: Rheumatology International
https://www.readbyqxmd.com/read/28458530/frailty-syndrome-in-ambulatory-patients-with-copd
#17
Panita Limpawattana, Siraphong Putraveephong, Pratchaya Inthasuwan, Watchara Boonsawat, Daris Theerakulpisut, Jarin Chindaprasirt
Frailty is a state of increased risk of unfavorable outcomes when exposed to stressors, and COPD is one of the several chronic illnesses associated with the condition. However, few studies have been conducted regarding the prevalence of COPD and its related factors in Southeast Asia. The objectives of this study were to determine the prevalence of frailty in COPD patients and to identify the associated factors in these populations. A cross-sectional study of COPD patients who attended a COPD clinic was conducted from May 2015 to December 2016...
2017: International Journal of Chronic Obstructive Pulmonary Disease
https://www.readbyqxmd.com/read/28457059/cannabidiol-as-a-therapy-for-asia-syndrome-an-editorial-on-a-novel-study
#18
Daphna Katz, Yehuda Shoenfeld
No abstract text is available yet for this article.
February 2017: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/28455727/perioperative-considerations-for-patients-with-sickle-cell-disease-a-narrative-review
#19
Narjeet Khurmi, Andrew Gorlin, Lopa Misra
PURPOSE: Approximately 200,000 individuals worldwide are born annually with sickle cell disease (SCD). Regions with the highest rates of SCD include Africa, the Mediterranean, and Asia, where its prevalence is estimated to be 2-6% of the population. An estimated 70,000-100,000 people in the United States have SCD. Due to enhanced newborn screening, a better understanding of this disease, and more aggressive therapy, many sickle cell patients survive into their adult years and present more frequently for surgery...
April 28, 2017: Canadian Journal of Anaesthesia, Journal Canadien D'anesthésie
https://www.readbyqxmd.com/read/28453308/genitourinary-syndrome-of-menopause-in-five-asian-countries-results-from-the-pan-asian-revive-survey
#20
Y Chua, K K Limpaphayom, B Cheng, C M Ho, K Sumapradja, C Altomare, K Huang
OBJECTIVES: The Pan-Asian REVIVE survey aimed to examine women's experiences with genitourinary syndrome of menopause (GSM) and their interactions with health-care professionals (HCPs). METHODS: Self-completed surveys were administered face-to-face to 5992 women (aged 45-75 years) in Indonesia, Malaysia, Singapore, Taiwan, and Thailand. RESULTS: Of 638 postmenopausal women with GSM symptoms, only 35% were aware of the GSM condition, most of whom first heard of GSM through their physician (32%)...
April 28, 2017: Climacteric: the Journal of the International Menopause Society
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