Search Results
Results 1 - 50 of 2407
1 2 3 4 5 6 7 8 9 10 >
Klusek Jessica - - 2014
PURPOSE Impaired pragmatic language (i.e., language use for social interaction) is a hallmark feature of both autism spectrum disorder (ASD) and fragile X syndrome (FXS), the most common known monogenic disorder associated with ASD. However, few cross-population comparisons of ASD and FXS have been conducted, and it is unclear whether ...
Bannon Sarah A - - 2014
Patients with Lynch Syndrome, the most common hereditary colorectal cancer syndrome, benefit from genetic education and family counseling regarding diagnostic testing and cancer surveillance/prevention recommendations. Although genetic counseling is currently the most common venue where such education and counseling takes place, little is known about the level of disease knowledge ...
Chen Xujiao X Department of Geriatrics, Zhejiang Hospital, Hangzhou, People's Republic of - - 2014
Frailty is a common and important geriatric syndrome characterized by age-associated declines in physiologic reserve and function across multiorgan systems, leading to increased vulnerability for adverse health outcomes. Two major frailty models have been described in the literature. The frailty phenotype defines frailty as a distinct clinical syndrome meeting three ...
Ouédraogo I - - 2013
A 12-year-old boy is admitted for emergency surgery for acute abdominal syndrome. The intervention showed strangulation of the terminal ileum by the vermiform appendix. The pathology analysis showed bilharzial appendicitis by Schistosoma haematobium. The patient was treated with praziquantel. The literature is not plentiful on this subject. Because protozoiasis is ...
Cingano L - - 2013
The authors observed and followed nine patients with Goldenhar syndrome to identify the variability and severity malformations mainly affecting the orofacial district, but also other systems. Considering the severity of the lesions and the affected organs and tissues, the authors report preventive and therapeutic approaches, which present considerable difficulties in ...
Metwalley Kotb Abbass KA Department of Pediatrics, Assiut University, Assiut, - - 2013
A romatase excess syndrome (AEXS) is a rare autosomal dominant disorder characterized by prepubertal gynecomastia, it responds well to medical treatment. In the absence of prompt suspicion, it can expose the patient to the risk of unnecessary surgical intervention. Up to our best knowledge, the association between AEXS and neurofibromatosis ...
Stevenson Roger E - - 2013
Malformations are significant contributions to childhood mortality and disability. Their co-occurrence with intellectual disability may compound the health burden, requiring additional evaluation and management measures. Overall, malformations of greater or lesser severity occur in at least some cases of almost half of the 153 XLID syndromes. Genitourinary abnormalities are most ...
Kumar P Anil - - 2013
Lifestyle changes such as dietary habits, sedentary life and consumption of energy-dense foods that have occurred over the years has led to an epidemic of abdominal obesity, which in turn resulted in dramatic increase in the prevalence of metabolic syndrome (MetS). Different expert panels have provided various definitions for MetS ...
Wagenaar Jaap A - - 2013
Campylobacteriosis in humans, caused by Campylobacter jejuni and C. coli, is the most common recognized bacterial zoonosis in the EU and US. The acute phase is characterized by gastro intestinal symptoms. The long-term sequelae (Guillain-Barré Syndrome, reactive arthritis and post-infectious irritable bowel syndrome) contribute considerably to the disease burden. Attribution ...
Kakkar Manish - - 2013
In India, quality surveillance for acute encephalitis syndrome (AES), including laboratory testing, is necessary for understanding the epidemiology and etiology of AES, planning interventions, and developing policy. We reviewed AES surveillance data for January 2011-June 2012 from Kushinagar District, Uttar Pradesh, India. Data were cleaned, incidence was determined, and demographic ...
Finucane Brenda - - 2013
Abstract We surveyed 439 professionals in the field of autism to assess their knowledge and perceptions about fragile X syndrome (FXS) and related issues. Almost half had worked with at least one child diagnosed with FXS, yet most lacked basic knowledge about the condition, underestimated its significance in the etiology ...
Brodt Jessica - - 2013
Orbital compartment syndrome (OCS) is a rare, catastrophic, but potentially treatable complication. It requires prompt diagnosis and immediate intervention, as critical period for possible functional recovery is very short. This report adds to our understanding of potential mechanisms of perioperative blindness, and suggests extracorporeal circulatory support, systemic inflammatory response, and ...
Lee Yo-Han - - 2013
The Seoul Metabolic Syndrome Management (SMESY) project, a metropolitan lifestyle intervention program aimed at decreasing the risk of metabolic syndrome to the residents of the city, has recently been implemented in 2011. Our target population consisted of residents of Seoul who were 30-64 years old. Subjects visiting a Public Health ...
Kim Kimberly H - - 2013
In this issue of Cell Stem Cell, Feng et al. (2013) report that the gene mutated in human CHARGE syndrome, ATP-dependent chromatin remodeling factor CHD7, contributes to the control of neurogenesis. The authors also report that exercise ameliorates these defects and suggest it as an intervention worthy of study in CHARGE ...
MikoĊ‚ajewska Emilia - - 2013
Cornelia de Lange syndrome (CdLS, also called Brachmann-de Lange syndrome - BdLS) is a multisystem developmental disorder characterized by distinctive facial features, growth and mental retardation, microcephaly, and various malformations. According to their clinical status, patients with CdLS require individual interdisciplinary therapy. The therapy is difficult and mainly symptomatic. To ...
Saroja Aralikatte Onkarappa AO Department of Neurology, KLE University's Jawaharlal Nehru Medical College and KLES', Dr. Prabhakar Kore Hospital and MRC, Nehrunagar, Belgaum - 590 010, - - 2013
Guillain-Barré syndrome (GBS) and hypokalemic paralysis are common causes of acute flaccid quadriparesis and specific therapeutic interventions differ. Simultaneous occurrence of severe hypokalemia in patients with GBS at the time of presentation can cause diagnostic and therapeutic dilemma. Presence of hypomagnesemia with hypokalemia in patients with GBS can be perplexing ...
Parihar Mayur M Cytogenetics Unit, Christian Medical College, Vellore, Tamil Nadu, - - 2013
Chromosomal abnormalities are seen in nearly 1% of live born infants. We report a 5-year-old boy with the clinical features of Down syndrome, which is the most common human aneuploidy. Cytogenetic analysis showed a mosaicism for a double aneuploidy, Down syndrome and XYY. The karyotype was 47, XY,+21[19]/48, XYY,+21[6]. ish ...
Vaccarino Viola V Department of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, GA 30322, USA. - - 2013
Psychological stress may play a role in metabolic syndrome. A consequence of metabolic syndrome is endothelial dysfunction, which is also influenced by psychological stress. We sought to compare the effect of consciously resting meditation (CRM), a sound based meditation, with a control intervention of health education (HE) on endothelial function ...
Gin Henri - - 2013
Objective. Estimate the effect of lifestyle adjustment activities in patients with metabolic syndrome treated by prescribed balneotherapy. Methods. Observational pilot cohort study with 12-month follow-up after multidimensional lifestyle training (physical, dietary, educational) during 3-week standard stay in the spa town of Eugénie-les-Bains. Results. Of 145 eligible patients, 97 were included; ...
Deanda Abe - - 2013
Acute aortic syndrome is a term that describes one of a number of different pathologic entities. Each of these conditions requires urgent or emergent evaluation and may possibly require surgical intervention. However, both entities may be unfamiliar to the nonsurgical (and in some cases, surgical) practitioner and they may mimic ...
Gao Hua - - 2013
Maffucci syndrome is a congenital, non-hereditary mesodermal dysplasia manifested by multiple enchondromas and hemangiomas. It is associated with diverse secondary musculoskeletal deformities, which is exceedingly rare. We report a case of hemangiomas and enchondromas localized in the unilateral limb in a patient with Maffucci syndrome. Treatment consists of orthopedic and ...
Bi Yingfei - - 2013
To master the syndrome patterns characteristics and explore the effective therapy methods of Traditional Chinese Medicine (TCM) for cardiac syndrome X (CSX). The TCM syndrome characteristics were mastered and the TCM intervention programs were determined by clinical investigations for TCM syndrome patterns characteristics of CSX patients. Then, the clinical efficacy ...
Vargas V R A - - 2013
We evaluated the response of individuals with metabolic syndrome to lifestyle modification intervention and examined the influence of polymorphism 48867A>C (Asp358Ala) of IL6R (rs2228145) in this response. Participants were randomly divided into two groups: NI, nutritional intervention; NIE, nutritional intervention and exercise practice. Intervention lasted three months and participants completed ...
Rachapalli Vamsidhar - - 2013
Superior vena cava syndrome results from the obstruction of blood flow through the superior vena cava and is most often due to thoracic malignancy. However, benign etiologies are on the rise secondary to more frequent use of intravascular devices such as central venous catheters and pacemakers. Although rarely a medical ...
Boesgaard-Kjer Diana H - - 2013
Well-leg compartment syndrome in the lower extremities after surgery in the lithotomy position is a rare but severe complication requiring early diagnosis and intervention. Several circumstances predispose to this condition as a consequence of increased intra-compartmental pressure, such as positioning of the legs during operation (lithotomy and Lloyd-Davies positions), a ...
Sepúlveda Esther Moraleda - - 2013
Morphosyntax constitutes one of the most complex areas of language. It takes into account the structure of the word and that of the sentence, and its development allows one to establish adequately agreements both within the nominal phrase and in the rest of the sentence. Morphosyntax is particularly impaired in ...
Tunnicliffe P - - 2013
BACKGROUND: Temper outbursts are common in Prader-Willi syndrome but rarely described in detail. This study investigated the phenomenology of temper outbursts in terms of antecedents, sequence of behaviours and emotions and intervention strategies used. METHOD: A semi-structured interview about temper outbursts was conducted with the main carers of seven children ...
Gennaro P - - 2013
Frey syndrome is a common complication that appears few months after parotid surgery with flushing and sweating of the parotid-temporal area during mastication. It presumably originates from an aberrant nervous regeneration in which the parasympathetic fibers of the parotid gland would combine themselves with the sympathetic fibers of the sweat ...
Morgan Gareth J - - 2013
Loeys-Dietz is a multisystem congenital syndrome that comprises craniofacial and cutaneous abnormalities as well as structural cardiac defects. One of its key pathological features is an aggressive widespread vasculopathy that can manifest as aortic or cerebral aneurysms, which is prone to dissection and rupture. We report a case of a ...
Schwartz Rachel - - 2013
Mexican American women have the highest incidence of metabolic syndrome among all U.S. demographic groups. This paper details an innovative approach to reducing the risks for metabolic syndrome among Hispanic families in rural Idaho. Compañeros en Salud (CeS) is a promotora-led wellness program and community-based participatory research project from the ...
Liu Baohua - - 2013
A de novo G608G mutation in LMNA gene leads to Hutchinson-Gilford progeria syndrome. Mice lacking the prelamin A-processing metalloprotease, Zmpste24, recapitulate many of the progeroid features of Hutchinson-Gilford progeria syndrome. Here we show that A-type lamins interact with SUV39H1, and prelamin A/progerin exhibits enhanced binding capacity to SUV39H1, protecting it ...
Altan Egemen - - 2013
Extravasation of contrast agents is a possible complication of imaging studies. Although extravasations typically cause minimal swelling or erythema, they can lead to compartment syndrome when the volume of extravasation is high. In this article, we will present an exceptional case where an insignificant amount of contrast agent extravasation led ...
Azizi Fereidoun F Endocrine, Obesity and Prevention of Metabolic Disease Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, IR - - 2013
It has been shown that life style modification may decrease the prevalence of metabolic syndrome, but this intervention has not been reported in community setting. Effect of lifestyle modification on prevalence of metabolic syndrome and its components were assessed in an urban population. In 6870 participants of Tehran Lipid and ...
Gharipour Mojgan - - 2012
Pharmacological therapy is a crucial step in the management of individuals with the metabolic syndrome, when lifestyle modifications alone cannot achieve the therapeutic goals. The present study aimed to evaluate the efficacy of comprehensive interventions with the pharmacological treatment in individuals with the metabolic syndrome. A cross-sectional population-based survey examined ...
J Rodríguez-Sánchez - - 2012
Among the many complications of celiac disease, mesenteric lymph node syndrome cavitated is considered one of the rarest, there is few case series published in the literature. The etiology and pathophysiology are unknown but because of its high mortality rate, estimated to be around 50%, it should recognize at an ...
Rajagopal Rithwick - - 2012
Corticobasal syndrome (CBS) is the clinical presentation of corticobasal degeneration (CBD), a rare neurodegenerative disorder, with features of both cerebral and basal ganglia involvement. Visual disturbance is uncommonly a predominant symptom but when present can be markedly debilitating. Visual findings primarily manifest as oculomotor apraxia, but significant cognitive impairment may ...
Katoue Maram G - - 2012
Background The metabolic syndrome is a cluster of cardiovascular risk factors and its prevalence is alarmingly high in Kuwait, affecting nearly one third of the adult population. There is lack of information about the role of community pharmacists in the care of patients with the metabolic syndrome. Objective To assess ...
Licameli Greg - - 2012
OBJECTIVE To evaluate the long-term efficacy of adenotonsillectomy in the treatment of pediatric patients with PFAPA (periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis) syndrome. DESIGN Prospective case series. SETTING Tertiary care pediatric hospital. PATIENTS Pediatric patients meeting the criteria for PFAPA syndrome. INTERVENTIONS Tonsillectomy with adenoidectomy. MAIN OUTCOME MEASURES ...
Tsirline Victor B - - 2012
BACKGROUND: Colonic pseudo-obstruction in critically ill patients may lead to devastating colonic perforation. Neostigmine is often the first-line intervention, because colonoscopy is more invasive and labor intensive. METHODS: A retrospective 10-year review at a tertiary medical center identified 100 patients with Ogilvie's syndrome, in whom treatment course and clinical and ...
Virbalas Jordan M - - 2012
BACKGROUND: Cri du chat syndrome (CCS) is a genetic disorder resulting from the deletion of the short arm of chromosome 5. Perhaps the most distinctive characteristic of this syndrome is the congenital high-pitched cry, which frequently brings these patients to the attention of an otolaryngologist. Speech and language development in ...
Waring Avantika C - - 2012
Both subclinical hypothyroidism and the metabolic syndrome have been associated with increased risk of coronary heart disease events. It is unknown whether the prevalence and incidence of metabolic syndrome is higher as TSH levels increase, or in individuals with subclinical hypothyroidism. We sought to determine the association between thyroid function ...
Memtsoudis Stavros G - - 2012
Analysis of the National Inpatient Sample database from 2000 to 2008. To identify whether metabolic syndrome is an independent risk factor for increased major perioperative complications, cost, length of stay, and nonroutine discharge. Metabolic syndrome is a combination of medical disorders that has been shown to increase the health risk ...
Hegedus Eric J - - 2013
Athletic pubalgia (AP) is a chronic debilitating syndrome that affects many athletes. As a syndrome, AP is difficult to diagnose both with clinical examination and imaging. AP is also a challenge for conservative intervention with randomized controlled trials showing mixed success rates. In other syndromes where clinical diagnosis and conservative ...
Fan Kenneth - - 2012
Neonatal distraction in severe micrognathia patients may alleviate the need for tracheostomy. The authors' objectives in evaluating syndromic neonatal distraction cases were to: (1) document preoperative temporomandibular joint pathology, (2) compare the incidence of postoperative temporomandibular joint ankylosis, and (3) determine whether "unloading" the condyle tended to prevent temporomandibular joint ...
Camilleri Michael - - 2012
The present review describes advances in understanding the mechanisms and provide an update of present and promising therapy directed at the gut or the brain in the treatment of irritable bowel syndrome (IBS). The diagnosis of IBS typically is based on identification of symptoms, such as the Rome III criteria ...
Siegel D H - - 2012
The RASopathies are a class of human genetic syndromes caused by germline mutations in genes that encode protein components of the Ras/mitogen-activated protein kinase (MAPK) pathway. Costello syndrome (CS) is a RASopathy caused by mutations in the HRAS gene, a key regulator of signal transduction. To quantify the specific cutaneous ...
Gripp Karen W - - 2012
Costello syndrome (OMIM# 218040) is a distinctive rare multisystem disorder comprising a characteristic coarse facial appearance, intellectual disabilities, and tumor predisposition. Although the diagnosis can be suspected clinically, confirmation requires identification of a heterozygous mutation in the proto-oncogene HRAS. In contrast to somatic oncogenic mutations in neoplasia, the Costello syndrome ...
Li Yuan Y - - 2012
Down's syndrome, a congenital disorder associated with cognitive impairment and early-onset Alzheimer's disease, is a progressive genetic pathology resulting from full or partial triplication of chromosome 21. Down's syndrome brain is typified by activated microglia, increases in inflammatory signaling, and an aberrant immune system. In these studies, a screening of ...
Bonnet Crystel - - 2012
Usher syndrome (USH) is the most prevalent cause of hereditary deafness-blindness in humans. In this review, we pinpoint new insights regarding the molecular mechanisms defective in this syndrome, its molecular diagnosis and prospective therapies. Animal models wherein USH proteins were targeted at different maturation stages of the auditory hair cells ...
Van Loon Katherine - - 2012
We report the case of a patient with myelodysplasia who had Sweet syndrome of the oral cavity. An atypical myeloid immunophenotype was present in the gingival biopsy specimen and in a concurrent bone marrow specimen. Fluorescence in situ hybridization performed on the gingival biopsy specimen demonstrated the same del(20q) cytogenetic ...
1 2 3 4 5 6 7 8 9 10 >