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Milošević Biljana - - 2012
Common variable immunodeficiency is a primary immunodeficiency disease characterized by reduced serum immunoglobulins and heterogeneous clinical features. Recurrent pyogenic infections of upper and lower respiratory tracts are the main clinical manifestations of common variable immunodeficiency. Hemolytic uremic syndrome is a multisystemic disorder characterized by thrombocytopenia, microangiopathic hemolytic anemia, and organ ...
Zambito Marsala Sandro - - 2011
Tick borne encephalitis virus infection usually shows a biphasic course. In the first stage of illness symptoms are similar to a flu-like syndrome, then after a defervescence period, fever may represent with neurological manifestations ranging from mild meningitis to severe encephalomyelitis. We report the clinical case of an adult man ...
Amary M Fernanda - - 2011
Ollier disease and Maffucci syndrome are characterized by multiple central cartilaginous tumors that are accompanied by soft tissue hemangiomas in Maffucci syndrome. We show that in 37 of 40 individuals with these syndromes, at least one tumor has a mutation in isocitrate dehydrogenase 1 (IDH1) or in IDH2, 65% of ...
Mishra Om P - - 2011
Urinary N-acetyl-beta-D: glucosaminidase (NAG) is a sensitive biomarker of renal parenchymal disease. The aim of this study was to investigate variations in the levels of NAG excretion among different sub-groups of nephrotic syndrome (first episode, relapsers, and resistant) and its prediction based on proteinuria. Thirty-five patients with idiopathic nephrotic syndrome, ...
Ebong Imo A IA Department of Epidemiology and Prevention, Wake Forest School of Medicine, Winston Salem, North Carolina 27157, USA. - - 2012
The association between metabolic syndrome and electrocardiographic (ECG) abnormalities is not well established. ECG tracings of 6,765 men and women aged 45-84 years, free of clinical cardiovascular disease, from the Multi-Ethnic Study of Atherosclerosis were obtained (2000-2002) and classified as normal or having major or minor abnormalities. We evaluated the ...
Lebreiro Ana - - 2011
Tall stature is a common feature of both Marfan syndrome and XYY syndrome. Differential diagnosis between these entities has important prognostic implications. We report the case of a 21-year-old young man with a previously known diagnosis of XYY syndrome, in whom the identification of a fibrilin-1 mutation was determinant to ...
Khachiyants Nina - - 2011
"Sundowning" in demented individuals, as distinct clinical phenomena, is still open to debate in terms of clear definition, etiology, operationalized parameters, validity of clinical construct, and interventions. In general, sundown syndrome is characterized by the emergence or increment of neuropsychiatric symptoms such as agitation, confusion, anxiety, and aggressiveness in late ...
Ramieri Valerio - - 2011
The authors present the clinical case of a 5-month-old boy, affected by multimalformative syndrome with features of microdeletion 3q syndrome. In the literature so far, the real incidence is unknown because of its rarity. The goal of this study was to describe the salient findings of this rare malformative syndrome, ...
Sakthivel Muthukumar - - 2011
The panniculitides are a group of heterogeneous inflammatory diseases involving the subcutaneous fat, the pathogenesis of which is poorly understood. Here, we report on a female infant with Prader-Willi syndrome who developed a systemic inflammatory disorder in the neonatal period demonstrating recurrent panniculitis as a prominent feature. This is the ...
Papagrigorakis M J - - 2011
Abstract The auriculo-condylar syndrome is caused by abnormalities of the first and second pharyngeal arches during embryonic development. Its inheritance follows the autosomal dominant pattern. Both familial and individual cases are reported in the literature. The syndrome is characterized by wide phenotypic variation, with affected individuals expressing clinical signs of ...
Finestack Lizbeth H LH University of Minnesota, Minneapolis, USA. - - 2012
To gain a better understanding of language abilities, the expressive macrostructural narrative language abilities of verbally expressive adolescents and young adults with Down syndrome (DS) and those with fragile X syndrome (FXS) were examined. The authors evaluated 24 adolescents and young adults with DS, 12 male adolescents and young adults ...
Shaikh Z S - - 2011
This article describes the sequence of acute clinical deterioration seen in a head and neck oncology patient who developed serotonin syndrome peri-operatively. It highlights the clinical dilemma that can be encountered when a septic picture masks the onset of serotonin syndrome and reinforces the importance of awareness of the potential ...
Laurita Jason - - 2011
Muenke syndrome caused by the FGFR3(P250R) mutation is an autosomal dominant disorder mostly identified with coronal suture synostosis, but it also presents with other craniofacial phenotypes that include mild to moderate midface hypoplasia. The Muenke syndrome mutation is thought to dysregulate intramembranous ossification at the cranial suture without disturbing endochondral ...
Gallego Lucía - - 2011
Two patients suffering Capgras Syndrome (CS) were evaluated with neuroimaging and neuropsychological tests, the results of which are compared with the existing etiopathogenic theories. To date, the etiopathogeny of the CS continues to lack satisfactory explanation. However, several holistic models have been proposed to better understand the many different theoretical ...
Cassab Tatiana Vialôgo TV Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, São Paulo, - - 2011
The G/BBB syndrome is a rare condition characterized by hypertelorism, cleft lip and palate, and hypospadias. No studies were found on the hearing of individuals with this syndrome. To investigate the auditory function in patients with G/BBB syndrome, such as the occurrence of hearing loss, and central and peripheral auditory ...
Park Hyojung - - 2011
The purpose of this study was to examine entrance examination-related stress, mental health, and the quality of life of high school students with and without irritable bowel syndrome. We administered a descriptive survey by collecting data from 1,877 students from eight schools in Gyeonggi province, Korea. This study employed the ...
- - 2011
To review the clinical aspects of ovarian hyperstimulation syndrome and provide recommendations on its diagnosis and clinical management. These guidelines will assist in the early recognition and management of ovarian hyperstimulation. Early recognition and prompt systematic supportive care will help avert poor outcomes. Medline, Embase, and the Cochrane database were ...
Mockenhaupt Maja - - 2011
Stevens-Johnson syndrome has long been considered to resemble erythema multiforme with mucosal involvement, but is now thought to form a single disease entity with toxic epidermal necrolysis. Although Stevens-Johnson syndrome is less severe, etiology, genetic susceptibility and pathomechanism are the same for Stevens-Johnson syndrome/toxic epidermal necrolysis. The condition is mainly ...
Cho L W - - 2011
Metabolic syndrome is a clustering of different risk factors that collectively increases the risk of developing cardiovascular disease and type 2 diabetes mellitus. The syndrome itself is associated with various metabolic abnormalities, including insulin resistance, non-alcoholic fatty liver disease, obstructive sleep apnoea, male hypogonadism and polycystic ovary syndrome. This review ...
Karafin M - - 2011
Noonan syndrome, a distinctive syndrome characterized by dysmorphism, cardiac abnormalities and developmental delay, has been associated with a number of malignancies, however, only a few cases of primary glial or glioneuronal neoplasms have been reported. We report here the case of an 18-year-old with Noonan syndrome who developed a rosette ...
Bui-Mansfield Liem T - - 2011
Hemorrhagic fever with renal syndrome (HFRS) is a potentially fatal infectious disease with worldwide distribution. Its etiologic agents are viruses of the genus Hantavirus of the virus family Bunyaviridae. Hypothetical ease of production and distribution of these agents, with their propensity to incapacitate victims and overwhelm health care resources, lend ...
Kounis Nicholas G - - 2011
Kounis syndrome is the concurrence of acute coronary syndromes with conditions associated with mast cell activation, such as allergies or hypersensitivity and anaphylactic or anaphylactoid insults that can involve other interrelated and interacting inflammatory cells behaving as a 'ball of thread'. It is caused by inflammatory mediators such as neutral ...
Mei Man Fong - - 2011
Syndrome differentiation is a methodology unique to Chinese medicine. It threads the diagnosis process with clinical treatment into a holistic web of links to determine and regulate the patterns of dysfunctions in the human body. It is seen as the essence of Chinese medicine because it takes into account the ...
Pelucchi Claudio - - 2011
To provide information on the role of the metabolic syndrome on prostate cancer risk. We examined data from a multicentric Italian case-control study. Cases were 1294 patients with incident, histologically confirmed prostate cancer. Controls were 1451 men hospitalized with acute, non-neoplastic conditions. All subjects were younger than 75 years. The ...
Tzarouchi Loukia C - - 2011
The purpose of this study was to evaluate with MRI the involvement of gray matter and white matter structures in patients with primary Sjögren syndrome. Fifty-three patients with primary Sjögren syndrome, 18 age- and disease duration-matched patients with systemic sclerosis, and 35 age-matched control subjects were examined for differences in ...
Chen Ling - - 2011
Sturge-Weber syndrome (SWS) is a neurocutaneous syndrome, characterized by the association of facial port-wine hemangiomas in the trigeminal nerve distribution area, with vascular malformation(s) of the brain (leptomeningeal angioma) with or without glaucoma. Herein, we reported Sturge-Weber syndrome in a 50-year-old man, who presented port-wine hemangiomas and epilepsy. In this ...
Redondo Pedro - - 2011
At least nine types of vascular malformations with specific clinical and radiologic characteristics must be distinguished in the lower limbs: Klippel-Trénaunay syndrome, port-wine stain with or without hypertrophy, cutis marmorata telangiectatica congenita, macrocephaly-capillary malformation, Parkes Weber syndrome, Stewart-Bluefarb syndrome, venous malformation, glomuvenous malformation, and lymphatic malformation. Extensive vascular malformations are ...
Magli Adriano - - 2011
Patients with Möbius and Poland-Möbius syndromes may experience paralytic lagophthalmos. This is a retrospective interventional case series. We report 1 case of Möbius syndrome and 2 cases of Poland-Möbius syndrome, wherein patients underwent lower blepharoplasty for lagophthalmos with 2 different surgical techniques. Two patients with Poland-Möbius syndrome presenting with bilateral ...
Quinlan Nicky N Geriatric Research, Education, and Clinical Center, Veterans Affairs Boston Healthcare System, Boston, MA 02130, - - 2011
Frailty and delirium, although seemingly distinct syndromes, both result in significant negative health outcomes in older adults. Frailty and delirium may be different clinical expressions of a shared vulnerability to stress in older adults, and future research will determine whether this vulnerability is age related, pathological, genetic, environmental, or most ...
Bercaw-Pratt Jennifer L - - 2011
BACKGROUND: McCune-Albright syndrome is a rare syndrome, classically defined as the triad of precocious puberty, fibrous dysplasia of bone, and café au lait lesions. Partial or atypical presentations of McCune-Albright syndrome, with only one or two of the classic symptoms, have been described in the literature and remain particularly challenging ...
Adolphs Nicolai - - 2011
ABSTRACT: A 34-year-old patient with asymmetric hyperostosis of the craniofacial skeleton much more pronounced on the right side is presented. A long-term follow-up of 16 years showed progression of overgrowth even after skeletal maturity and despite repeated surgical corrections focusing on regional reduction of the hyperostoses. Clinical situation during infancy, ...
Moses Michael - - 2011
ABSTRACT: Slit-ventricle syndrome (SVS) is characterized by headaches associated with subnormal ventricular size in patients with shunt-treated hydrocephalus. It commonly occurs in children who have had shunts placed at an early age and is diagnosed when computed tomography scans are carried out to investigate suspected shunt obstruction with an accompanying ...
Jeong Jee Hoon - - 2011
This study was designed to evaluate the association of metabolic syndrome and benign prostate enlargement in young Korean males. We analyzed the clinical data associated with metabolic syndrome and prostate volume in the study population. We retrospectively analyzed the clinical data obtained from 1,506 young men under the age of ...
Collett-Solberg Paulo Ferrez - - 2011
Turner syndrome is a frequent chromosome disorder in clinical practice. It is characterized by short stature, gonadal dysgenesia and multisystemic involvement, responsible for a high morbidity and reduced life expectancy. The aim of the present paper is to describe the endocrinopathies and major problems at different ages, and to present ...
Pasta Vittorio - - 2011
The study of the Mondor's syndrome as a possible complication of gigantomastia. A 49 year old woman, with gigantomastia, came to our observation for the presence of a large superficial vein of the left breast affected by thrombophlebitis, compatible with Mondor's syndrome. A "Thorek" breast reduction was performed; the patient ...
Lee Min-Ho - - 2011
Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome is a multisystem disorder, which is clinically characterized by encephalopathy, dementia, seizures and stroke-like episodes. Multiple organs can be affected and cardiac involvement often dominates the clinical picture because of its high energy requirement. We report a case of a 21-year-old ...
- - 2011
Hand radiographs showing distal acro-osteolysis and osteopenia and hands showing the dystrophic nails in the 2 patients with a novel aging phenotype syndrome. See article by Cabanillas et al. in this issue.
Izumi Kosuke - - 2012
To determine the underlying genetic diagnosis of Pierre Robin sequence (PRS) in 2 cohorts of individuals, assess the accuracy of genetic evaluation in young infants with PRS, and contrast the interventions provided to children with isolated and syndromic PRS. The study involved retrospective chart reviews at 2 children's hospitals and ...
Byrne Peter - - 2011
Common medical disorders that fail to achieve proportionate clinical or research attention are usually complex, hidden or stigmatized. Functional somatic syndromes are all three of these, complicated further by ongoing disagreements about terminology and diagnostic criteria.
Watt Kymberly D KD Division of Gastroenterology and Hepatology, William J. von Liebig Transplant Center, Mayo Clinic and Foundation, Rochester, MN 55905, USA. - - 2011
1. Metabolic syndrome (MS) is common after liver transplantation and has been associated with increased risks of cardiovascular disease, cardiovascular death, liver-related death, and overall mortality. 2. Immunosuppression may increase the frequency of hyperlipidemia, diabetes, and hypertension and thus increase the risk and prevalence of MS after transplantation. 3. Corticosteroids ...
Dixit Abhijit - - 2011
"Triple A" syndrome is a rare, autosomal recessive condition whose main clinical features are alacrima, achalasia, and adrenal failure. Most patients also develop some neurologic abnormalities. We describe an 11-year-old boy with triple A syndrome who presented with progressive axonal motor neuropathy. Molecular analysis revealed compound heterozygous mutations in the ...
Allen Jeffrey A JA Northwestern University Feinberg School of Medicine, Chicago, Illinois, - - 2011
Eosinophilia-myalgia syndrome (EMS) is characterized by subacute onset of myalgias and peripheral eosinophilia, followed by chronic neuropathy and skin induration. An epidemic of EMS in 1989 was linked to consumption of L-tryptophan that had originated from a single source. Following the ban by the Food and Drug Administration (FDA) on ...
Nakamura Mitsuhiro - - 2011
OBJECTIVE: Neuroleptic malignant syndrome induced by atypical antipsychotics presents atypical clinical manifestations with fewer symptoms compared with neuroleptic malignant syndrome induced by typical antipsychotics. However, any differences in prognosis between these 2 types of drug-induced neuroleptic malignant syndrome remain unknown. We examined neuroleptic malignant syndrome-related mortality in patients treated with ...
D'Abbicco D - - 2011
Wernicke syndrome is a rare neurological pathology due to a deficit in vitamin B1. The syndrome is common among alcohol abusers, patients with malignant tumor or gastrointestinal diseases, those who undergo hemodialysis or long-term peritoneal dialysis, pregnant women with hyperemesis, women who breast-feed, patients with hyperthyroidism or anorexia nervosa or ...
Lee Richard K - - 2012
The metabolic syndrome (MetS) has become one of the major public health challenges worldwide. Emerging data have now clearly demonstrated its impact on male sexual function. The MetS appears to be strongly related to erectile dysfunction as well as hypogonadism. Few randomized studies exist to guide treatment of sexual dysfunction ...
Chandravanshi Shivcharan L - - 2011
The Hutchinson-Gilford progeria (HGP) syndrome is an extremely rare genetic condition characterized by an appearance of accelerated aging in children. The word progeria is derived from the Greek word progeros meaning 'prematurely old'. It is caused by de novo dominant mutation in the LMNA gene (gene map locus 1q21.2) and ...
Quraishi Sadeq A - - 2011
Locked-in syndrome is an extremely rare neurological state caused by injury of the ventral pons. The syndrome is characterized by quadriplegia and anarthria with concomitant preservation of cortical function. When a reversible underlying pathological abnormality is identified and managed aggressively, meaningful recovery is possible. Because patients retain consciousness throughout their ...
Nho Ji-Sung - - 2011
Rett syndrome is a neurological disease that occurs only in females and it manifests with mental retardation, seizures, movement disorders, autistic behavior and abnormal breathing. A 19-year-old female with Rett syndrome underwent ophthalmologic surgery under general anesthesia at our institution. Airway control was difficult due to her limited mouth opening. ...
Rayman Russell B - - 2011
Irritable bowel syndrome (IBS) is a gastrointestinal disorder diagnosed in accordance with the Rome III criteria. The pathophysiology of this illness is not well defined and there are no known structural abnormalities, biomedical markers, nor inflammatory causes to explain the symptoms. There are a number of serious illnesses, such as ...
Lee Soo Hyun - - 2011
Churg-Strauss syndrome (CSS) is a multisystem granulomatous vasculitis that is characterized by peripheral eosinophilia and the infiltration of eosinophils into systemic organs. The skin lesions of CSS consist mainly of palpable purpura and nodules. Wells' syndrome (WS) is a rare inflammatory dermatosis that is associated with recurrent granulomatous dermatitis and ...
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