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genetic syndromes

Scott R Plotkin, Antje Wick
Neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis are a group of related classically inherited but often times sporadic tumor suppressor syndromes. Neuro-oncologists should recognize these syndromes, initiate necessary tests in patients with a clinical suspicion, and support genetic counseling of patients and families. In this review, clinical presentation, diagnostic criteria, day-to-day management including supportive care as well as updates on genetics, and experimental treatment strategies are discussed...
February 2018: Seminars in Neurology
Marco Armando, Corrado Sandini, Maelle Chambaz, Marie Schaer, Maude Schneider, Stephan Eliez
Converging evidence suggests that psychosis emerges from the complex interaction of genetic and environmental factors. Stressful life events (SLEs) play a prominent role in combination with coping strategies and with a dysfunctional hypothalamus-pituitary-adrenal axis (HPAA). It has been proposed that the framework of schizotypy might help disentangle the interaction between genetic and environmental factors in the pathogenesis of psychosis. Similarly, 22q11.2 deletion syndrome (22q11DS) is considered as a genetic model of psychosis vulnerability...
March 14, 2018: Schizophrenia Bulletin
Juan M Marqués-Lespier, Marievelisse Soto-Salgado, María González-Pons, Vanessa Méndez, Katerina Freyre, Carlos Beltrán, Luis R Pericchi, Marcia Cruz-Correa
OBJECTIVE: Colorectal cancer (CRC) is a leading causes of cancer death among men and women. The purpose of this study was to determine the prevalence of oligopolyposis (≥20 synchronous colorectal adenomas) and its associated clinicopathological characteristics in Hispanics with incident CRC. METHODS: Pathology reports from individuals diagnosed with CRC (2007 to 2011) were obtained from the PR Central Cancer Registry. Colorectal polyp burden was calculated using pathology reports and the data was normalized to colon segment size...
2018: Puerto Rico Health Sciences Journal
Suzanne M Mahon
People with multiple polyps may have a germline mutation that places them at higher risk for developing colorectal, gastrointestinal, and other cancers. Genetic testing can often identify the specific polyposis syndrome and provide insight into appropriate recommendations for cancer prevention and early detection. Individuals with hereditary polyposis syndromes often begin developing polyps in their teenage years and require aggressive gastrointestinal surveillance to remove polyps. For some, the polyp burden will be too high to manage endoscopically and will require risk-reducing colectomies...
April 1, 2018: Clinical Journal of Oncology Nursing
Tory P Johnson, Avindra Nath
PURPOSE OF REVIEW: The immune system serves a critical role in protecting the host against various pathogens. However, under circumstances, once triggered by the infectious process, it may be detrimental to the host. This may be as a result of nonspecific immune activation or due to a targeted immune response to a specific host antigen. In this opinion piece, we discuss the underlying mechanisms that lead to such an inflammatory or autoimmune syndrome affecting the nervous system. We examine these hypotheses in the context of recent emerging infections to provide mechanistic insight into the clinical manifestations and rationale for immunomodulatory therapy...
March 14, 2018: Current Opinion in Neurology
C Le Roy, G Larios, D Springmüller, C Clavería
INTRODUCTION: Children with congenital heart disease (CHD) present a high percentage of undern utrition and the interpretation of their nutritional assessment is difficult. OBJECTIVE: To describe the nutritional status of infants with CHD using two anthropometric classifications and compare them. PATIENTS AND METHOD: Non-concurrent cohort study. We studied children under 12 months under going cardiac surgery. We excluded preterm infants, small for gestational age, carriers of genetic syndrome or other disease with nutritional compromise...
December 2017: Revista Chilena de Pediatría
D Liao, H Yu, L Han, C Zhong, X Ran, D Wang, L Mo
PURPOSE: Evidences showed that paraoxonase 1 (PON1) gene polymorphism has an impact on women's susceptibility to polycystic ovarian syndrome (PCOS) by influencing the expression and activity of PON1. However, the effects of three PON1 polymorphisms (- 108 C>T, L55M and Q192R) on the incidence of PCOS have generated inconsistent results. Here, we conducted a meta-analysis to investigate the association between PON1 polymorphisms and PCOS risk. METHODS: All eligible trials were identified via systematic searches of multiple literature databases...
March 15, 2018: Journal of Endocrinological Investigation
Flaminia Bardanzellu, Maria Cristina Pintus, Valentina Masile, Vassilios Fanos, Maria Antonietta Marcialis
Nephrogenic syndrome of inappropriate antidiuresis (NSIAD), first described in 2005, is a rare genetic X-linked disease, presenting with hyponatremia, hyposmolarity, euvolemia, inappropriately concentrated urine, increased natriuresis, and undetectable or very low arginine-vasopressine (AVP) circulating levels. It can occur in neonates, infants, or later in life. NSIAD must be early recognized and treated to prevent severe hyponatremia, which can show a dangerous impact on neonatal outcome. In fact, it potentially leads to death or, in case of survival, neurologic sequelae...
March 15, 2018: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Zoë W Hawks, Natasha Marrus, Anne L Glowinski, John N Constantino
Previous research has suggested that behavioral comorbidity is the rule rather than the exception in autism. The present study aimed to trace the respective origins of autistic and general psychopathologic traits-and their association-to infancy. Measurements of autistic traits and early liability for general psychopathology were assessed in 314 twins at 18 months, ascertained from the general population using birth records. 222 twins were re-evaluated at 36 months. Standardized ratings of variation in social communication at 18 months were highly heritable and strongly predicted autistic trait scores at 36 months...
March 16, 2018: Journal of Abnormal Child Psychology
Yehuda Ben-Shahar
Manganese (Mn) is an essential trace element that acts as a metal co-factor in diverse biochemical and cellular functions. However, chronic environmental exposure to high levels of Mn is a well-established risk factor for the etiology of severe, atypical parkinsonian syndrome (manganism) via its accumulation in the basal ganglia, pallidum, and striatum brain regions, which is often associated with abnormal dopamine, GABA, and glutamate neural signaling. Recent studies have indicated that chronic Mn exposure at levels that are below the risk for manganism can still cause behavioral, cognitive, and motor dysfunctions via poorly understood mechanisms at the molecular and cellular levels...
2018: Frontiers in Genetics
Ole Petter Rekvig
Systemic lupus erythematosus (SLE) is an inadequately defined syndrome. Etiology and pathogenesis remain largely unknown. SLE is on the other hand a seminal syndrome that has challenged immunologists, biologists, genetics, and clinicians to solve its nature. The syndrome is characterized by multiple, etiologically unlinked manifestations. Unexpectedly, they seem to occur in different stochastically linked clusters, although single gene defects may promote a smaller spectrum of symptoms/criteria typical for SLE...
2018: Frontiers in Immunology
Manuel Fresno, Núria Gironès
Chagas disease is a multisystemic disorder caused by the protozoan parasite Trypanosoma cruzi , which affects ~8 million people in Latin America, killing 7,000 people annually. Chagas disease is one of the main causes of death in the endemic area and the leading cause of infectious myocarditis in the world. T. cruzi infection induces two phases, acute and chronic, where the infection is initially asymptomatic and the majority of patients will remain clinically indeterminate for life. However, over a period of 10-30 years, ~30% of infected individuals will develop irreversible, potentially fatal cardiac syndromes (chronic chagasic cardiomyopathy [CCC]), and/or dilatation of the gastro-intestinal tract (megacolon or megaesophagus)...
2018: Frontiers in Microbiology
Hao Zhang, Mengmeng Feng, Yi Feng, Zhaode Bu, Ziyu Li, Shuqin Jia, Jiafu Ji
Gastric cancer is one of the leading causes of cancer-related deaths worldwide. Among which, about 1%-3% of gastric cancer patients were characterized by inherited gastric cancer predisposition syndromes, knowing as hereditary diffuse gastric cancer (HDGC). Studies reported that CDH1 germline mutations are the main cause of HDGC. With the help of rapid development of genetic testing technologies and data analysis tools, more and more researchers focus on seeking candidate susceptibility genes for hereditary cancer syndromes...
February 2018: Chinese Journal of Cancer Research, Chung-kuo Yen Cheng Yen Chiu
Jiwoon Jeong, Seeun Kim, Changhoon Park, Ikjae Kang, Kee Hwan Park, Hee Jin Ham, Chanhee Chae
The objective of this field study was to evaluate the reproductive performance of sows after vaccination with a porcine reproductive and respiratory syndrome (PRRS) subunit vaccine (PRRSFREE PRRS subunit vaccine, Reber Genetics, Taiwan, Republic of China) under field conditions. The study was performed in three farms with endemic infections with both PRRS virus (PRRSV)-1 and PRRSV-2, a situation representative of most Korean farms. Pregnant sows were immunised intramuscularly with 2.0 ml of the PRRS subunit vaccine at 58 and 79 days of gestation (eight and five weeks antepartum) according to the manufacturer's recommendation...
March 15, 2018: Veterinary Record
Feng Suo, Chuangxia Wang, Tianya Liu, Yuan Fang, Qin Wu, Maosheng Gu, Lingshan Gou
BACKGROUND: Cell-free fetal DNA are widely used in the prenatal genetic testing during recent years. In the present study, we tried to investigate the clinical practical feasibility of non-invasive prenatal testing (NIPT) for prenatal sex chromosome aneuploidy (SCA) analysis among pregnancies in Xuzhou area of China. METHODS: Among a cohort of 8384 pregnancies, maternal plasma samples from our prenatal diagnosis center was subject to the analysis for SCA using NIPT detection...
March 12, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
Peter J Schwartz, Maria-Christina Kotta
No abstract text is available yet for this article.
March 20, 2018: Journal of the American College of Cardiology
David J Tester, Leonie C H Wong, Pritha Chanana, Amie Jaye, Jared M Evans, David R FitzPatrick, Margaret J Evans, Peter Fleming, Iona Jeffrey, Marta C Cohen, Jacob Tfelt-Hansen, Michael A Simpson, Elijah R Behr, Michael J Ackerman
BACKGROUND: Sudden infant death syndrome (SIDS) is a leading cause of postneonatal mortality. Genetic heart diseases (GHDs) underlie some cases of SIDS. OBJECTIVES: This study aimed to determine the spectrum and prevalence of GHD-associated mutations as a potential monogenic basis for SIDS. METHODS: A cohort of 419 unrelated SIDS cases (257 male; average age 2.7 ± 1.9 months) underwent whole exome sequencing and a targeted analysis of 90 GHD-susceptibility genes...
March 20, 2018: Journal of the American College of Cardiology
Christoph Niemietz, Christoph Röcken, Matthias Schilling, Jörg Stypman, Constantin E Uhlig, Hartmut H-J Schmidt
Transthyretin-related Familial Amyloid Polyneuropathy (ATTR Amyloidosis, former FAP, here called TTR-FAP) is a rare, progressive autosomal dominant inherited amyloid disease ending fatal within 5 - 15 years after final diagnosis. TTR-FAP is caused by mutations of transthyretin (TTR), which forms amyloid fibrils affecting peripheral and autonomic nerves, the heart and other organs. Due to the phenotypic heterogeneity and partly not specific enough clinical symptoms, diagnosis of TTR-FAP can be complicated...
March 2018: Deutsche Medizinische Wochenschrift
B M Kamath, A Baker, R Houwen, L Todorova, N Kerkar
BACKGROUND: Alagille syndrome (ALGS) is an inherited multisystem disorder typically manifesting as cholestasis, and potentially leading to end-stage liver disease and death. AIM: To perform the first systematic review of the epidemiology, natural history and burden of ALGS with a focus on the liver component. METHODS: Electronic databases and proceedings from key congresses were searched in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) 2009 guidelines...
March 14, 2018: Journal of Pediatric Gastroenterology and Nutrition
Ruwan Weerakkody, David Ross, David A Parry, Bulat Ziganshin, Jana Vandrovcova, Piyush Gampawar, Abdulshakur Abdullah, Jennifer Biggs, Julia Dumfarth, Yousef Ibrahim, Colin Bicknell, Mark Field, John Elefteriades, Nick Cheshire, Timothy J Aitman
PurposeThoracic aortic aneurysm/aortic dissection (TAAD) is a disorder with highly variable age of onset and phenotype. We sought to determine the prevalence of pathogenic variants in TAAD-associated genes in a mixed cohort of sporadic and familial TAAD patients and identify relevant genotype-phenotype relationships.MethodsWe used a targeted polymerase chain reaction and next-generation sequencing-based panel for genetic analysis of 15 TAAD-associated genes in 1,025 unrelated TAAD cases.ResultsWe identified 49 pathogenic or likely pathogenic (P/LP) variants in 47 cases (4...
March 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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