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Results 301 - 350 of 2420
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Nolan Kathleen J - - 2011
We hypothesized that children with Dravet syndrome manifest specific facial features that can be identified by pediatric neurologists and rendered objective by standard photographic measurements. This study comprised two parts. In Part 1, photographs of children with Dravet syndrome were compiled into a booklet with patients and their siblings randomly ...
Lin Yi-Hsin - - 2011
Currarino syndrome (CS) comprises a presacral mass, anorectal malformation, and a sacral bony defect. It is rarely reported in the gynecological field. We describe here the case of a 26-year-old married woman with Currarino syndrome who presented with a presacral teratoma and a previously unreported insertion in MNX1 gene. She ...
Nafil Hatim - - 2011
The association between paraneoplasic nephrotic syndrome and Hodgkin's disease is rare. We report a case of Hodgkin's lymphoma in a young female patient with nephrotic syndrome. A 40-year-old woman presented with the clinical symptoms of nephrotic syndrome, kidney biopsy revealed minimal change glomerulonephritis. A treatment with prednisone was started but ...
Minas Markos - - 2011
Chronic obstructive pulmonary disease (COPD) and metabolic syndrome represent common causes of morbidity and mortality in ageing populations. The effect of the co-existence of COPD and metabolic syndrome on adipose tissue hormones and insulin resistance as well as the differences between COPD patients with and without metabolic syndrome have not ...
Yamaoka N - - 2011
Genetic mutations in the purine salvage enzyme, hypoxanthine-guanine phosphoribosyltransferase (HPRT), are known to cause Lesch-Nyhan syndrome and Kelley-Seegmiller syndrome. In patients, purine metabolism is different from that of normal persons. We have previously developed a method for simultaneously determining the concentration of purine and pyrimidine nucleosides and nucleotides. This system ...
Teutonico Annalisa - - 2011
The idiopathic systemic capillary leak syndrome (SCLS) is a rare life-threatening disorder characterized by periodic episodes of hypovolemic shock, due to plasma leakage from the intravascular to the interstitial space, as reflected by accompanying hypoalbuminemia, hemoconcentration and edema. Here we report the case of a 65-year-old woman affected by SCLS ...
Prcic Sonja - - 2011
The hyperimmunoglobulin E syndrome is a rare complex primary immunodeficiency characterized by high serum IgE levels, eczema, and recurrent infections. We present a case of 2-years-old girl with eczema and repeated bacterial skin and lung infections since the period of infancy. The patient also had eosinophilia, high serum levels of ...
Mavroudis Constantine - - 2011
In utero diagnosis of complex progressive cardiac disease such as hypoplastic left heart syndrome presents a novel opportunity for antepartum, intrapartum, and neonatal management. The clinical possibilities and potential for differing outcomes challenge the mother-foetus dyad with regard to informed consent. Previous studies reveal that rates of termination of pregnancy ...
Ha Jae Yong - - 2011
The aim of this study was to investigate the frequency of the metabolic syndrome in patients with chronic lower back pain in Korea and to evaluate the differences in clinical characteristics in chronic lower back pain patients with and without metabolic syndrome. This was a cross-sectional study using data from ...
Motta Leonardo Ponce da - - 2011
Described here is a case of postmalaria neurological syndrome in a patient who presented infection by Plasmodium falciparum two months earlier. The patient received empiric use of acyclovir for herpetic meningoencephalitis, but neuropsychiatric symptoms improved only after administration of methylprednisolone.
Fernandes S - - 2011
PHACE syndrome was first described by Dr. Ilonia Frieden and colleagues in 1996. It is an under-recognized rather than a very rare condition among patients with large facial hemangiomas. It is challenging as it has significant neurological, vascular and airway implications. Vascular malformations compromising cerebral blood flow predispose the patient ...
Lee H S - - 2011
Hypertriglyceridemia and intracellular lipid overload are commonly present in both the chronic kidney disease (CKD) and metabolic syndrome. Hypertriglyceridemia in the metabolic syndrome arises mostly from increased lipoprotein synthesis, while that in the CKD is mainly caused by decreased catabolism. In metabolic syndrome, enhanced plasma levels of free fatty acids ...
Padron Eric - - 2011
The 5q- syndrome is a myelodsyplastic syndrome (MDS) characterized by symptomatic anemia and an indolent natural history with low transformation potential. Our understanding of the molecular pathogenesis of this disease has advanced considerably, paralleled by the delineation of the relevant targets underlying selective lenalidomide sensitivity. The context in which one ...
Veena K M - - 2011
Ellis-van Creveld syndrome is a rare congenital genetic disorder having autosomal recessive inheritance. It is a syndrome affecting the Amish population of Pennsylvania in USA with prevalence rate of 1/5,000 live at birth. In non-Amish population, the birth prevalence is 7/1,000,000. The syndrome is characterized by bilateral postaxial polydactyly of ...
Kim Min Kyu - - 2011
Lynch syndrome is a hereditary cancer syndrome that increases the risks of colorectal and gynecologic malignancies such as endometrial and ovarian cancer. Studies have shown that mutations in mismatch repair genes (MSH2, MSH6, and MLH1) are associated with Lynch syndrome. The aim of our study was to estimate the value ...
Yiş Uluç - - 2011
Marinesco-Sjögren syndrome is an autosomal recessive, multiorgan disorder with cardinal features of cerebellar ataxia, congenital or early childhood cataracts, psychomotor retardation, myopathy, and short stature. Mutations in the SIL1 gene on chromosome 5q31 were demonstrated to cause Marinesco-Sjögren syndrome. We describe two Turkish patients with clinical characteristics of Marinesco-Sjögren syndrome, ...
Liu Johnson M - - 2011
At the Sixth International Congress on Shwachman-Diamond syndrome, held at the New York Academy of Sciences on June 28-30, 2011, researchers from around the world met to discuss the latest clinical and basic science relating to this puzzling condition.
Magro Cynthia M - - 2011
Susac syndrome (SS) is the triad of encephalopathy, branch retinal artery occlusions (BRAOs), and hearing loss. Migraines may herald and accompany encephalopathy. Little is known about pathogenesis. Based on light microscopic findings in brain biopsy material analogous to anti-endothelial cell antibody (AECA)-mediated microvascular injury, we postulated that SS microangiopathy was ...
Wang Xiao-Yun - - 2011
The use of Chinese medicine (CM) for the management of: menopausal syndrome is considered effective both at home and abroad, and more and more clinical studies are confirming its efficacy. However, many problems still exit in current studies, such as the standard of CM syndrome differentiation, the design methodology and ...
Minegishi Yoshiyuki - - 2011
Hyper-IgE syndrome (HIES) is a primary immunodeficiency characterized by atopic dermatitis associated with extremely high serum IgE levels and susceptibility to staphylococcal skin abscesses and pneumonia. Recent studies have identified dominant negative mutations in the signal transducer and activator of transcription 3 gene (STAT3) as a major molecular cause of ...
Jensen-Steed Ginger - - 2011
Treacher Collins syndrome is named after the English surgeon Edward Treacher Collins, who initially described the syndrome's traits in 1900. This rare autosomal dominant disorder affects approximately 1:50 000 live births. It primarily affects the development of facial structures through a mutation in the TCOF1 gene found at the 5q32-33.1 ...
Catassi Carlo - - 2011
ABSTRACT: Celiac crisis is a life-threatening syndrome characterized by severe diarrhea, hypoproteinemia, and metabolic and electrolyte changes. Refeeding syndrome (RFS) is defined as the potentially fatal shifts in fluid and electrolytes that may occur in malnourished patients who are abruptly refed. Hypophosphatemia is the biochemical hallmark of RFS. According to ...
Payne K - - 2011
This case report presents an unusual incidental radiographic finding on a dental panoramic radiograph that caused diagnostic confusion. A 46-year-old female presented with symmetrical sclerotic cortical thickening of the anterior mandible visible on radiograph, with no other major clinical examination findings. The patient subsequently showed no change in radiographic appearance ...
Lenglet Sébastien - - 2011
Vasoplegic syndrome is a common complication of cardiopulmonary bypass, appearing with an incidence ranging between 5 and 25%. It is characterized by significant hypotension, high or normal cardiac output and low systemic vascular resistance. This syndrome is hypothesized to be caused by the inflammation-mediated dysregulation of endothelial homeostasis and subsequent ...
Nogueira Roberto José Negrão - - 2011
Although considered a well-known condition, there is only one study describing the body composition among individuals with Williams-Beuren syndrome. The aim was to characterize the nutritional status in Brazilian individuals with this condition. Cross-sectional study was designed to evaluate clinical and nutritional data of 17 Brazilian patients. Z-scores for height, ...
Sugumaran Hema K - - 2011
A 5-year-old girl with Noonan-neurofibromatosis syndrome was diagnosed with bilateral superior oblique palsy. At surgery, the right superior oblique tendon was absent, and further exploration revealed abnormal tissue inserting into Tenon's capsule. Orbital imaging was not performed. Congenital absence of the superior oblique tendon was diagnosed. Although Noonan syndrome is ...
Rolland Yves - - 2011
Frailty in the older population is a clinical syndrome which evaluate a risk level. The Frailty syndrome defines a reduction of the adaptation capacity to a stress. It can be modulated by physical, psychological and social factors. The screening of the frailty syndrome is relevant for older people without disability ...
Taniguchi A - - 2011
Lesch-Nyhan syndrome is caused by a deficiency of hypoxanthine phosphoribosyltransferase (HPRT) encoded by HPRT1. About 20% of patients have a deletion of HPRT1 and large deletions of HPRT1 are not always fully characterized at the molecular level. Here, we report on a case of Lesch-Nyhan syndrome with a 33-kb deletion ...
López-Cepero Ronald - - 2011
Down syndrome is the most studied chromosomal abnormality, and the risk of having a child with Down syndrome increases as maternal age increases. The prevalence of Down syndrome has been increasing in the last decade because more women older than 35 years of age are having children. In recent decades, ...
Scofield R Hal - - 2011
Sjögren's syndrome is a chronic autoimmune disease that is commonly manifested by immune attack on the exocrine glands with resultant dry eyes and dry mouth. Sjögren's syndrome patients also have disease in other organs. One of the most common extraglandular manifestations is vasculitis. Skin vasculitis, with palpable purpura clinically and ...
Tuli A - - 2011
Oral-facial-digital (OFD) syndrome is the collective name of a group of rare inherited syndromes characterized by malformations of the face, oral cavity, hands and feet. OFD syndrome type I, also known as the Papillon-League-Psaume syndrome warrants our attention because early diagnosis from an odontologic viewpoint will minimize the sequalae of ...
Osorio Fernando G - - 2011
Progeroid laminopathies are accelerated aging syndromes caused by defects in nuclear envelope proteins. Accordingly, mutations in the LMNA gene and functionally related genes have been described to cause HGPS (Hutchinson-Gilford progeria syndrome), MAD (mandibuloacral dysplasia) or RD (restrictive dermopathy). Functional studies with animal and cellular models of these syndromes have ...
Laframboise Michelle A - - 2011
To present the diagnostic and clinical features including management of acute compartment syndrome (ACS) of the foot and to create a sense of emergency amongst clinicians of this rare and dangerous condition. A 28-year old male soccer player on acetylsalicylic acid (ASA) and verapamil presented with severe swelling, paresthesia, and ...
Mtar Aida - - 2011
The Maroteaux-Lamy disease, or mucopolysaccharidosis type VI is an inherited metabolic disorder severe and rare. It is caused by a deficiency of the enzyme arylsulfatase B. It is characterized by a heterogeneous clinical, radiological and genetic. We report the case of a Maroteaux-Lamy syndrome of in a child aged 7 years whose ...
Murtuza Bari - - 2011
Background and aimsSeveral years ago, one of us described the difference in attitude to patients with hypoplastic left heart syndrome in the United States of America and Europe as similar to that between Mars and Venus. Uncertainty remains with regard to the long-term prognosis for patients with hypoplastic left heart ...
Ellis Dana L - - 2011
Posterior fossa syndrome, characterized by oromotor or oculomotor apraxia, emotional lability, and mutism, occurs in some children after infratentorial tumor resection, and is thought to involve injury to the dentatothalamocortical tract. Previous cases of posterior fossa syndrome involved pediatric patients with cerebellar and other posterior fossa tumors. To heighten awareness ...
Macpherson Lee L Department of Haemato-oncology, King's College London, London, - - 2012
Podosomes are actin-based adhesions involved in migration of cells that have to cross tissue boundaries such as myeloid cells. The Wiskott Aldrich Syndrome Protein regulates de novo actin polymerization during podosome formation and it is cleaved by the protease calpain during podosome disassembly. The mechanisms that may induce the Wiskott ...
Saraydemir Safak - - 2011
Down syndrome is a chromosomal condition caused by the presence of all or part of an extra 21st chromosome. It has different facial symptoms. These symptoms contain distinctive information for face recognition. In this study, a novel method is developed to distinguish Down Syndrome in a custom face database. Gabor ...
Revuelta Gonzalo J - - 2012
Disproportionate anterocollis is a debilitating condition which occurs in the later stages of parkinsonian syndromes and for which there is no effective therapy. Multiple hypotheses have been proposed to explain its underlying etiology, including myopathy of the cervical extensors, and dystonia of the cervical flexors. We examined the records of ...
Wilson Lisa - - 2012
Mild forms of serotonin syndrome can potentially be fatal, if not recognized. The increased use of serotonergic agents makes the awareness of its prevalence, various presentations, diagnostic evaluation, and treatment a clinical imperative. It is important to note that serotonin syndrome can only be diagnosed clinically in the presence of ...
Kim Hui Kwon - - 2011
Hutchinson-Gilford progeria syndrome (HGPS) is a rare condition originally described by Hutchinson in 1886. Death result from cardiac complications in the majority of cases and usually occurs at average age of thirteen years. A 4-yr old boy had typical clinical findings such as short stature, craniofacial disproportion, alopecia, prominent scalp ...
Greene Deanna J - - 2011
In a recent American Journal of Psychiatry article, Wang and colleagues used functional MRI (fMRI) to examine cortico-striatal-thalamo-cortical circuitry in Tourette syndrome (TS), advancing the field's investigation of circuit level dysfunction in vivo in individuals with TS. Their results provide insight for interrogating neural mechanisms underlying different treatment methods.
Miyoshi Fumito - - 2011
This report describes a case of a patient with long QT syndrome (LQTS) with recurrent episodes of torsades de pointes (TdP). Use of biventricular pacing (BiVP) resulted in a shorter QT interval and a shorter T-peak-end interval and prevented further episodes of TdP. These findings suggest that BiVP may be ...
Sanmann Jennifer N - - 2011
Methyl-CpG binding protein 2 gene (MECP2) testing is indicated for patients with numerous clinical presentations, including Rett syndrome (classic and atypical), unexplained neonatal encephalopathy, Angelman syndrome, nonspecific mental retardation, autism (females), and an X-linked family history of developmental delay. Because of this complexity, a gender-specific approach for comprehensive MECP2 gene ...
Brosens Lodewijk Aa - - 2011
Juvenile polyposis syndrome is a rare autosomal dominant syndrome characterized by multiple distinct juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer. The cumulative life-time risk of colorectal cancer is 39% and the relative risk is 34. Juvenile polyps have a distinctive histology characterized by an ...
Miller Gregory E - - 2011
Children raised in families with low socioeconomic status (SES) go on to have high rates of chronic illness in adulthood. However, a sizable minority of low-SES children remain healthy across the life course, which raises questions about the factors associated with, and potentially responsible for, such resilience. Using a sample ...
Kim Hyeon Chang - - 2011
Reports of the prevalence of and trends in metabolic syndrome in Korea have been inconsistent. Thus, we investigated the reasons underlying these inconsistencies. We estimated the prevalence of metabolic syndrome using different diagnostic criteria, exclusion criteria, and sampling weights among 5,509 respondents, aged 20-79, who participated in the 2001 Korean ...
Hsieh Chih-Wei - - 2011
  SCALP syndrome is an acronym describing the coincidence of sebaceous nevus syndrome, central nervous system malformations, aplasia cutis congenita, limbal dermoid, and pigmented nevus (giant congenital melanocytic nevus). We present a fourth case of this syndrome.
Bosley Thomas M - - 2011
Carbonic anhydrase type II deficiency syndrome is an uncommon autosomal recessive disease with cardinal features including osteopetrosis, renal tubular acidosis and brain calcifications. We describe the neurological, neuro-ophthalmological and neuroradiological features of 23 individuals (10 males, 13 females; ages at final examination 2-29 years) from 10 unrelated consanguineous families with ...
Wouters Eveline Jm - - 2011
BACKGROUND: Fatigue is a prevalent and debilitating problem in Sjögren's syndrome. It has been suggested that physical activity and cognitions about physical activity can influence fatigue.OBJECTIVE: The aim of this study was to examine fatigue and physical activity levels in patients with Sjögren's syndrome and the associations of physical activity ...
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