Search Results
Results 251 - 300 of 2407
< 1 2 3 4 5 6 7 8 9 10 11 >
Kim Mi Jin - - 2011
Sweet syndrome is a cutaneous lesion characterized by tender, red inflammatory nodules or papules. We describe a pediatric case of Sweet syndrome presenting 10 days after treatment with azathioprine. As azathioprine is widely used in children with inflammatory bowel disease, clinicians should be aware of this unusual adverse reaction.
Boersma Doeke - - 2011
We present a case of a 4-fenestrated endograft repair of a suprarenal aortic patch aneurysm as useful alternative for complexopen reoperation in a patient with Marfan syndrome.
Humphreys Ryan - - 2012
JAGGED1 mutations cause Alagille syndrome, comprising a constellation of clinical findings, including biliary, cardiac and craniofacial anomalies. Jagged1, a ligand in the Notch signaling pathway, has been extensively studied during biliary and cardiac development. However, the role of JAGGED1 during craniofacial development is poorly understood. Patients with Alagille syndrome have ...
Tabarki Brahim - - 2011
A rare sex chromosome aneuploidy syndrome, 49,XXXXY syndrome is characterized by mental retardation with severe learning difficulties, craniofacial and skeletal abnormalities, hypogonadism, and congenital heart disease. The authors describe a 30-month-old boy with 49,XXXXY syndrome, global developmental delay and white matter changes in the brain magnetic resonance imaging. They reviewed ...
Yang Jeong Hoon - - 2011
Recently, a revised Ghent nosology has been established for the diagnosis of Marfan syndrome (MFS) that puts more weight on the aortic root aneurysm and ectopia lentis. We compared the application of the Ghent and revised Ghent nosologies in adult Korean patients for whom there is suspicion of MFS. From ...
Agarwal Jaya - - 2011
OBJECTIVES:: The clinical presentations of celiac crisis and refeeding syndrome in celiac disease are almost similar but information about the latter is scarce. We are first time reporting five cases of refeeding syndrome in children with celiac disease that could have, otherwise, been labeled as celiac crisis. PATIENTS AND METHODS:: ...
Trolle Christian - - 2011
The cardinal features of Turner syndrome (TS) are short stature, congenital abnormalities, infertility due to gonadal dysgenesis, with sex hormone insufficiency ensuing from premature ovarian failure, which is involved in lack of proper development of secondary sex characteristics and the frequent osteoporosis seen in Turner syndrome. But sex hormone insufficiency ...
Keil Margaret F - - 2012
Children with Cushing syndrome present with growth delay and excess adiposity that tends to be generalized rather than centripetal. There are no prospective studies of this phenotype as it evolves before and after treatment in children. The aims of this study were to evaluate children prior to and one-year after ...
Jason Leonard A - - 2012
This article uses data from patients recruited using the 1994 case definition of chronic fatigue syndrome (CFS) to contrast those meeting criteria for the Myalgic Encephalomyelitis/chronic fatigue syndrome (ME/CFS) Canadian case definition with those that did not meet these criteria. The study also contrasts those meeting criteria for Myalgic Encephalomyelitis ...
Greff Bruno - - 2011
Background:  There are few data regarding perioperative adverse events in children with nephrotic syndrome. Objectives:  The aim of this study was to describe the nature and frequency of perioperative adverse events in children with nephrotic syndrome. Materials and Methods:  This is a retrospective study from a large university pediatric hospital. ...
Abrahám Hajnalka - - 2011
Myelination is considered as one of the last steps of neuronal development and is essential to the physiologically matured function of afferent and efferent pathways. In the present study, myelin formation was examined in the human fetal, postnatal and adult hippocampal formation in Down syndrome and in age-matched controls with ...
Mathias Christopher J - - 2011
Postural tachycardia syndrome (PoTS) is a poorly understood but important cause of orthostatic intolerance resulting from cardiovascular autonomic dysfunction. PoTS is distinct from the syndromes of autonomic failure usually associated with orthostatic hypotension, such as pure autonomic failure and multiple system atrophy. Individuals affected by PoTS are mainly young (aged ...
Micol Romain R CEREDIH Network (French National Reference Center for Primary Immunodeficiencies), Hôpital Necker-Enfants Malades, AP-HP, Paris, - - 2012
Primary immunoglobulin deficiencies lead to recurrent bacterial infections of the respiratory tract and bronchiectasis, even with adequate immunoglobulin replacement therapy. It is not known whether patients able to secrete IgM (eg, those with hyper-IgM [HIgM] syndrome) are as susceptible to these infections as patients who lack IgM production (eg, those ...
Almeida Vânia - - 2011
Flail-leg syndrome or lower limb diplegia is a form of motor neuron disease characterized by a slower progression rate. The differential diagnosis with motor neuropathy is important. We present two patients with a previous diagnosis of amyotrophic lateral sclerosis (ALS)-flail-leg syndrome, in whom neurophysiological studies suggested proximal conduction block. Both ...
Jung Na-Yeon - - 2011
Although some reports have associated parkinsonism, dystonia, and chorea with the extrapontine lesions of osmotic demyelination syndrome (ODS), to our knowledge delayed-onset tic disorder has not been reported. Thus, we report a rare secondary tic associated with ODS involving both the striatum and the cerebral cortex. We can hypothesize that ...
Krishnamurthy Sriram - - 2011
The authors present the first case of Galloway Mowat Syndrome (GMS), a rare disorder comprising of nephrotic syndrome in association with microcephaly, from India. An 11-mo-old girl with microcephaly, developmental delay and nystagmus presented with nephrotic syndrome. The perinatal and neonatal periods had been uneventful. The renal biopsy revealed mesangial ...
Landau Yuval Eliahu YE The Freund Tourette Syndrome Clinic, Department of Psychological Medicine, Children's Medical Center of Israel, Tel Aviv University, 14 Kaplan Street, P.O. Box 559, 49202 Petah Tiqwa, Israel. - - 2012
Tourette's syndrome is a neurodevelopmental disorder clinically characterized by multiple motor and phonic tics. It is likely that a neurobiological susceptibility to the disorder is established during development by the interaction of genetic, biochemical, immunological, and environmental factors. This study sought to investigate the possible correlation of several immunological and ...
Narumi Yoko - - 2011
15q24 deletion syndrome is a recently-described chromosomal disorder, characterized by developmental delay, growth deficiency, distinct facial features, digital abnormalities, loose connective tissue, and genital malformations in males. To date, 19 patients have been reported. We report on a 13-year-old boy with this syndrome manifesting childhood myelodysplastic syndrome (MDS). He had ...
Bibb Audrey L - - 2011
The 12q14 microdeletion syndrome is characterized by microcephaly, short stature, osteopoikilosis, weight deficiency, and learning disabilities. We report on a mother and daughter with a 12q14 microdeletion. To our knowledge these are the first reported familial cases with the syndrome. We also discuss the genes in the deleted area that ...
Gómez-Santos C - - 2011
Objective:  To analyze the effect in obese pre- and postmenopausal women of a daily dose of 100 mg Dehydroepiandrosterone-sulphate (DHEA-S) provided over a period of 3 months as replacement therapy against Metabolic-Syndrome. Context:  Although, DHEA-S appears to be effective against certain features of Metabolic-Syndrome, its usefulness against this syndrome as ...
Petríková Jana - - 2011
The human ovary is commonly the target of an autoimmune attack leading to the ovarian dysfunction which can be manifested as premature ovarian failure (POF), polycystic ovary syndrome (PCOS), unexplained infertility as well as endometriosis. In case of POF, the evidence for an autoimmune etiology is based on the presence ...
Pyeritz Reed E - - 2011
In the nearly quarter-century since the first international symposium on Marfan syndrome, enormous progress has been achieved in clinical, translational, and basic research. The 8th symposium, at the end of 2010, provides a useful summary of the current status of investigations, reveals why life-expectancy has improved so markedly during the ...
Kruis Wolfgang - - 2012
To study the therapeutic effects of probiotic Escherichia coli Nissle 1917 (EcN) in irritable bowel syndrome (IBS) and identify subgroups benefiting most. Some trials investigating therapeutic effects in irritable bowel syndrome have shown benefits in IBS subgroups only. Probiotic treatment seems to be promising. Patients with irritable bowel syndrome (120; ...
Yarbrough William M - - 2011
Patients presenting with acute thoracic aortic syndromes require immediate evaluation and stabilization. Although emergent surgical intervention may not be warranted in all cases, managing clinicians should be cognizant of the fact that these diseases are dynamic and that they can rapidly degenerate yielding catastrophic consequences. While traditional surgical intervention has ...
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 ...
Kitchens W H - - 2011
HELLP syndrome (hemolysis, elevated liver function tests, low platelets) is a rare complication of pregnancy that can result in severe complications such as hepatic infarction, subcapsular liver hematomas, and maternal brain death from cerebral hemorrhage. Recently, several investigators have described cases of successful transplantation using livers procured from donors who ...
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 ...
Juneja A - - 2011
Sotos syndrome is a well-defined childhood overgrowth syndrome characterized by pre- and postnatal overgrowth, developmental delay, advanced bone age, and a typical facial gestalt including macrodolichocephaly with frontal bossing, frontoparietal sparseness of hair, apparent hypertelorism, downslanting palpebral fissures, and facial flushing. This report presents a case of Sotos syndrome in ...
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 ...
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 ...
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 ...
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 ...
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 ...
Takahashi Satoru - - 2011
Rett syndrome is a severe neurodevelopmental disorder characterized by microcephaly, psychomotor regression, seizures and stereotypical hand movements. Recently, deletions and inactivating mutations in FOXG1, encoding a brain-specific transcription factor that is critical for forebrain development, have been found to be associated with the congenital variant of Rett syndrome. Here, we ...
Nomoto Koichi - - 2011
An 85 year old man with a history of chronic renal insufficiency was admitted to the cardiothoracic intensive care unit after aortic valve replacement. His postoperative course was marked by acute oliguric renal failure for high blood urea nitrogen (BUN) and acute hyperactive delirium. At this time he also developed ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
Aubuchon Mira - - 2011
This review summarizes the diagnosis of polycystic ovary syndrome and management of associated infertility. The goal is to guide clinicians through basic evaluation, initial treatment, and briefly describe more complex therapies.
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 ...
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, ...
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 ...
< 1 2 3 4 5 6 7 8 9 10 11 >