Search Results
Results 1 - 50 of 279
1 2 3 4 5 6 >
Niikura Asumi J AJ Department of Clinical Pathophysiology, Tsurumi University Dental Hospital , Tsurumi-ku, Yokohama , - - 2014
Objective. The purpose of this study was to investigate the procedures for efficiently diagnosing Sjögren's syndrome to reduce patient burden. Methods. This study analyzed data from 254 Japanese patients diagnosed with Sjögren's syndrome out of 4967 who visited our clinic complaining of xerostomia. Results. Of the 254 Sjögren's syndrome patients, ...
Suárez-Ortegón Milton Fabián MF Grupo de Nutrición, Departamento de Ciencias Fisiológicas, Universidad del Valle, Cali, - - 2014
Introduction: The metabolic syndrome, a set of metabolic anomalies that include insulin resistance, central obesity, dyslipidemia, hypertension and inflammation, is an important tool to explore factors associated to cardiometabolic disease. Objective: The aim of this study was to evaluate the relationship of the levels of self-reported physical activity and the ...
Henseler Ilona I 1 Max Planck Institute for Human Cognitive and Brain Sciences, Department of Neurology, Leipzig, - - 2014
One way to investigate the neuronal underpinnings of language competence is to correlate patholinguistic profiles of aphasic patients to corresponding lesion sites. Constituting the beginnings of aphasiology and neurolinguistics over a century ago, this approach has been revived and refined in the past decade by statistical approaches mapping continuous variables ...
Roberts Jane E JE University of South Carolina, Department of Psychology, Columbia, SC, United States. Electronic address: - - 2013
Early patterns of temperament lay the foundation for a variety of developmental constructs such as self-regulation, psychopathology, and resilience. Children with fragile X syndrome (FXS) display unique patterns of temperament compared to age-matched clinical and non-clinical samples, and early patterns of temperament have been associated with later anxiety in this ...
Lanfranchi Silvia - - 2013
Previous research has identified a deficit in phonological short-term memory in individuals with Down syndrome. The present work aimed to analyze how a group of 30 individuals with Down syndrome performed in a picture span task compared with 30 typically developing children of the same mental age. The task involved ...
Franić Sanja - - 2013
In the present article, multivariate genetic item analyses were employed to address questions regarding the ontology and the genetic and environmental etiology of the Anxious/Depressed, Withdrawn, and Somatic Complaints syndrome dimensions of the Internalizing grouping of the Child Behavior Checklist/6-18 (CBCL/6-18). Using common and independent pathway genetic factor modeling, it ...
Grover Sandeep - - 2013
Dhat syndrome is a culture-bound syndrome, characterized by the core belief of loss of semen accompanied by symptoms of general weakness, lack of energy and concentration, impaired sexual functions, and vague somatic troubles, often associated with an anxious or dysphoric mood state. Although many studies have described the clinical picture ...
Pessoa Larissa - - 2012
Prune belly syndrome (PBS) is a rare congenital malformation of unknown etiology characterized by congenital abnormalities including abdominal wall flaccidity, urinary tract alterations, and bilateral cryptorchidism. The incidence of the syndrome is between 1/35000 and 1/50000 live births and there is little information about the oral findings. The present case ...
Murphy-Ryan Maureen - - 2012
We report on a father and his 4-year-old son sharing a characteristic dysmorphic facial phenotype (including hyperteleroism, prominent forehead, and wide nasal bridge), macrocephaly, hearing loss, palatal clefting, developmental delay, hypotonia and bony abnormalities including marked cranial sclerosis and sclerosis of the ribs and long bones, which evolved in severity ...
Carter Melissa T - - 2012
Hearing impairment is common in individuals with branchio-oculo-facial (BOF) syndrome. The majority of described individuals have conductive hearing impairment due to malformed ossicles and/or external canal stenosis or atresia, although a sensorineural component to the hearing impairment in BOF syndrome is increasingly being reported. Sophisticated computed tomography (CT) of the ...
Terpos Evangelos - - 2012
Schnitzler syndrome is a rare plasma cell disorder with unclear pathogenesis. We evaluated the circulating levels of four major angiogenic cytokines (VEGF, angiogenin, angiopoietin-1 and -2) and six bone remodeling markers (sRANKL, osteoprotegerin, dickkopf-1, CTX, osteocalcin and bone-specific alkaline phosphatase-bALP) in 13 patients with Schnitzler syndrome. At diagnosis, patients had ...
Arnell Henrik - - 2012
OBJECTIVE: To study the incidence and outcome of Down syndrome-associated neonatal cholestasis in a population-based cohort. STUDY DESIGN: This retrospective study included all neonates diagnosed with Down syndrome born between January 2005 and September 2011 in the County of Stockholm, Sweden. Clinical and biochemical data related to cholestasis, early gastrointestinal ...
Haras B - - 2012
Nail-patella syndrome, also known as hereditary onycho-osteodystrophy, is a rare autosomal dominant disorder with pleiotropic phenotypic expression.The present report is of a nail-patella syndrome patient, a 26-year-old female, admitted to our NeuroMuscular Rehabilitation Clinic Division for neurological symptoms, secondary to a severe spondylolysthesis with bilateral L5 pedicle fracture. During hospitalization, ...
Mancino Raffaele - - 2012
Purpose. We report a case of woman with Marfan syndrome and longstanding postlensectomy scleral wound dehiscence. Methods. A 34-year-old woman with Marfan syndrome who underwent lensectomy 20 years ago had conjunctival leakage with chronic hypotony and conjunctival cystic degeneration secondary to scleral wound dehiscence. Presentation, clinical evaluation, and particular treatment ...
Ishida Mitsuaki - - 2012
The increased incidence of testicular tumor occurrence, especially seminoma, in Down syndrome has been well documented. However, primary mediastinal seminoma occurring in Down syndrome has not been reported. Incidental discovery of an anterior mediastinal tumor was made in a 28-year-old Japanese man with Down syndrome, who had been scheduled for ...
Kanakis G - - 2012
Hypersecretion of PTHrP is a relatively common cause of malignancy-related hypercalcemia but has only been described in a few cases of neuroendocrine tumors (NET). The aim of this case report is to describe the clinical syndrome, complex therapeutic interventions, and unusual complications caused by persistent PTHrP hypersecretion in a patient ...
Akawi Nadia A - - 2012
Stüve-Wiedemann syndrome (SWS) is a severe congenital skeletal dysplasia associated with life threatening dysautonomic manifestations. Newborns affected with this condition exhibit distinctive shortening and bowing of the long bones with reduced bone volume. The majority of affected newborns die early due to neuromuscular complications namely hyperthermia, apnea, and swallowing difficulties. ...
Frings Andreas - - 2012
Positive family anamnesis is an important risk factor for cancer, and therefore further investigations need to be done if familial aggregation of cancer is observed. Due to a rare combination of urinary tract and bone tumors occurring in the family presented herein we hypothesized a hereditary predisposition and thus, Li-Fraumeni ...
Szwed Aleksander - - 2012
Caffey-Silverman syndrome, or infantile hyperostosis, is a rare condition of unclear etiology and pathogenesis affecting the skeletal system and the surrounding soft tissues. It is characterized by indurated swelling of soft tissues and cortical bone hyperostosis. The changes are usually multiple and affect such parts as the mandible, scapulae, ribs, ...
Dixit Snehil - - 2012
A 69-year-old man diagnosed with Klippel-Trenaunay syndrome (KTS) reported to the physiotherapy outpatient clinic with the complaint of a non-healing ulcer over the right medial malleolus, for a 6-month duration, that was non-granulating and had moderate pus discharge with foul odour at initial assessment. There was a decrease in scores ...
Shetty Devi C DC Department of Oral and Maxillofacial Pathology and Microbiology, I.T.S. Center for Dental Studies and Research, Muradnagar, Ghaziabad, Uttar Pradesh, - - 2012
Skeletal dysplasias are a heterogenous group of disorders combining abnormalities in the skull and other skeletal bones. Weyers acrofacial dysostosis also known as Weyers acrodental dysostosis was first described in 1952, by Weyers, as a postaxial polydactyly, which had features distinct from, yet some in common with the Ellis-van Creveld ...
Takata M - - 2011
We report a case of Klippel-Trenaunay-Weber syndrome in a 31-year-old woman who presented with hypertrophy of the left leg. She had severe osteoarthritic changes in the left hip joint secondary to the lack of acetabular coverage of the femoral head as the result of lateral inclination of the pelvis owing ...
Hess Gregory William - - 2011
Ankle injuries are common occurrences in athletics involving and requiring extreme ranges of motion. Ankle sprains specifically occur with a 1 in 10 000 person rate in active individuals each day. If trauma is repetitive, the ankle structures have potential to experience secondary injury and dysfunction. Included in this category ...
Tyrakowski Marcin - - 2011
The Rubinstein-Taybi syndrome is a rare syndrome of congenital disorders whose etiology is still unknown. Most RTS patients have musculoskeletal abnormalities which, if untreated, may significantly affect independent mobility. This paper presents the results of a surgical treatment of a 13-year-old patient with RTS and instability of the patellofemoral joint. ...
McCabe Linda L - - 2011
Experts agree that coercion by insurance companies or governmental authorities to limit reproductive choice constitutes a eugenic practice. We discuss discrimination against families of children with Down syndrome who chose not to have prenatal testing or chose to continue a pregnancy after a prenatal diagnosis. We argue that this discrimination ...
Celletti Claudia - - 2011
The aim of this study is to evaluate degree and possible major determinants of lower limb disability in joint hypermobility syndrome. Forty patients with joint hypermobility syndrome were studied. Lower limb function was evaluated with the lower limb functional scale (LEFS). Intensity of pain was estimated by the numeric rating ...
Bettoni L - - 2011
Knuckle pads is a syndrome characterized by the presence of multiple nodules located on the extensor side of the interphalangeal or metacarpophalangeal joints. Several conditions can be confused with Knuckle pads. We describe a case of a 47-years-old man who developed multiple bilateral roundish nodules located in the skin over ...
Gates Peter - - 2011
The brainstem is incredibly complex. It contains nuclei, pathways and structures, many with unusual names such as the olives, medial longitudinal fasciculus and the superior and inferior colliculi. The neurological examination can only assess some of them. This article is designed to help make sense of the signs in the ...
Kandasamy Narayanan - - 2011
Pendred syndrome, a combination of sensorineural deafness, impaired organification of iodide in the thyroid and goitre, results from biallelic defects in pendrin (encoded by SLC26A4), which transports chloride and iodide in the inner ear and thyroid respectively. Recently, pendrin has also been identified in the kidneys, where it is found ...
Sheets Kathryn B - - 2011
The purpose of this study was to explore the perspectives of genetic counselors and parents of children with Down syndrome to define essential information for the initial discussion of a new diagnosis. We compared information given in both prenatal and postnatal settings, and also aimed to distinguish differences between the ...
Ursitti F - - 2011
Craniosynostosis (craniostenosis) is premature fusion of the sutures of the cranial vault. Several factors can affect the growth of the cranial vault during embryonic life and after birth, leading to different types of craniosynostosis; these can be classified on the basis of the specific sutures that are fused. Prognosis is ...
Pandey A - - 2011
Milwaukee shoulder syndrome or rapid destructive arthritis of the shoulder; is a particular form of arthritis which affects mainly elderly patients, predominantly women, with limited pain and sometimes neuropathic joints, rotator cuff tear, joint instability, mildly inflammatory or noninflammatory, blood-stained effusion, calcium apatite crystals, and marked joint and bone destruction. ...
Albaker Waleed I - - 2011
Metabolic syndrome is one of the most prevalent global health problems that predisposes to Type 2 diabetes. It is strongly linked to insulin resistance, which results in hyperglycemia. Over the past few years, lot of studies have been carried out on Helicobacter pylori infection and found a possible causal relationship ...
Pandit Chetan - - 2011
Down syndrome is associated with a significant health burden, which is particularly apparent in young children who will frequently present with cardiac and respiratory problems. Respiratory presentations include problems related to structural abnormalities of the airways and lungs, glue ears, recurrent lower respiratory tract infections and obstructive sleep apnoea. These ...
Winlaw David S DS Heart Centre for Children, The Children's Hospital at Westmead, New South Wales, Australia. - - 2012
Hypoplastic left heart syndrome is a rare condition requiring major cardiac surgery during the neonatal period to sustain life, with subsequent procedures culminating in completion of the Fontan circulation - the common pathway for all 'single ventricle' conditions. Algorithms for care of these children are now well defined with predictable ...
Hersh Joseph H - - 2011
Fragile X syndrome (an FMR1-related disorder) is the most commonly inherited form of mental retardation. Early physical recognition is difficult, so boys with developmental delay should be strongly considered for molecular testing. The characteristic adult phenotype usually does not develop until the second decade of life. Girls can also be ...
Sasase Sachiko - - 2011
Anthracyclines are key drugs for the treatment of children with acute lymphoblastic leukemia (ALL). However, anthracyclines are known to induce QT prolongation, and life-threatening complications, such as torsades de pointe may also occur. To date, there have been no reports on the use of anthracyclines in patients with congenital long ...
Denayer Ellen - - 2011
Legius syndrome is a RAS-MAPK syndrome characterized by pigmentary findings similar to neurofibromatosis type 1 (NF1), but without tumor complications. Learning difficulties and behavioral problems have been reported to be associated with Legius syndrome, but have not been studied systematically. We investigated intelligence and behavior in 15 patients with Legius ...
Debes Nanette M M M - - 2011
There is evidence that cortico-striato-thalamo-cortical pathways are involved in the pathophysiology of Tourette syndrome. During the performance of neuropsychological tests in subjects with Tourette syndrome there are suggestions for increased activity in the sensimotor cortex, supplementary motor areas, and frontal cortex. To replicate findings, the authors examined 22 medication-naive children ...
Guirguis Suzy - - 2011
The term pervasive refusal syndrome was first mentioned in a paper detailing a sample study of four children by Bryan Lask and colleagues in 1991. This article presents a sample of four children diagnosed with Pervasive Refusal Syndrome, three girls and a boy, seen within a specialist NHS inpatient unit ...
Nadir Syeda Javaria - - 2011
Nephrotic syndrome is basically a set of signs or symptoms that may point to kidney problems, a condition when large amounts of protein leak out into the urine. In children protein excretion greater than 40 mg/m(2).hr(-1) indicate presence of nephrotic syndrome. Edema is the prominent feature of nephrotic syndrome and ...
Cammarata B - - 2011
The widespread of obesity in childhood is a rising cause of the development of metabolic syndrome, the prevalence of which is clearly increasing. The complexity of the frequent concurrence between metabolic syndrome and type 2 diabetes requires the therapeutic approach to be multidisciplinary and based on the stabilization of glycemia, ...
Guzzetta Francesco - - 2011
We report an overview on early development of children with Dravet syndrome. After a historical outline of literature data, we refer to an Italian multicentric project, partially still in course. Because in the first year of life development seems impaired in Dravet syndrome as studies on precognitive abilities would show, ...
May Joshua - - 2011
  Gianotti-Crosti syndrome is an entity characterized by an acute papular eruption in children and has been associated with a multitude of viruses. This is the first case reported in association with type A influenza, a virus that usually has no dermatologic findings.
van Rijn Sophie - - 2011
Aim:  Studying Klinefelter syndrome (47,XXY) can reveal insights into mechanisms of neurodevelopment. Our aim was to identify factors that influence risk for psychopathology in this syndrome, with a focus on age specific and cognitive specific risk profiles. Methods:  73 subjects with Klinefelter syndrome (25 children, 48 adults) and 93 age-matched ...
Rodgers Jacqui - - 2011
Children with Autism Spectrum Disorder or Williams syndrome are vulnerable to anxiety. The factors that contribute to this risk remain unclear. This study compared anxiety in autism spectrum disorder and Williams Syndrome and examined the relationship between repetitive behaviours and anxiety. Thirty-four children with autism and twenty children with Williams ...
Green Alex D - - 2011
BACKGROUND:: Rumination syndrome is a condition that occurs when people constantly regurgitate and expel or reswallow food soon after they eat. The most severe cases of rumination syndrome can be debilitating, requiring total parenteral nutrition or enteral tube feedings. We report our experience with the treatment of children with severe ...
de Graaf G - - 2011
Background  The Netherlands are lacking reliable national empirical data in relation to the development of birth prevalence of Down syndrome. Our study aims at assessing valid national live birth prevalence rates for the period 1986-2007. Method  On the basis of the annual child/adult ratio of Down syndrome diagnoses in five ...
Baeza-Velasco C - - 2011
Joint hypermobility syndrome (JHS), also known as Ehlers-Danlos III, is an inherited disorder of connective tissue, characterised by an exceptional increase in the joint's mobility and the presence of musculoskeletal and other symptoms. It is a benign syndrome if compared with the other types of Ehlers-Danlos, but it can become ...
Hasler William L - - 2011
The pathogenesis of symptoms in irritable bowel syndrome (IBS) is multifactorial and varies from patient to patient. Disturbances of motor function in the small intestine and colon and smooth-muscle dysfunction in other gut and extraintestinal regions are prominent. Abnormalities of sensory function in visceral and somatic structures are detected in ...
1 2 3 4 5 6 >