Search Results
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Bixel Kristin K Department of Obstetrics and Gynecology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02215, - - 2012
BACKGROUNDL: Mirror syndrome is characterized by preeclampsia-like syndrome in pregnancies complicated by fetal hydrops. We describe a case of mirror syndrome associated with angiogenic dysfunction in maternal plasma and the placenta. A pregnant patient with known fetal hydrops presented at 22 weeks gestation with features of severe preeclampsia. Measurements of ...
Cherng Eric - - 2011
  Wells' syndrome, otherwise known as eosinophilic cellulitis, is a rare dermatosis seen more commonly in adults than in children. In this article, we present a 5-year-old Caucasian boy who initially presented with pruritic, erythematous macules and papules evolving to bullae formation. Subsequent histology confirmed diagnosis of Wells' syndrome, and ...
Fernández-Faith Esteban - - 2011
  A 3-year-old boy presented with asymptomatic elastomas on the posterior trunk. Radiographic studies revealed osteopoikilosis, confirming the diagnosis of Buschke-Ollendorff syndrome. The patient had a history of bilateral simple cutaneous syndactyly, which has not been previously reported with this condition. Buschke-Ollendorff syndrome is a rare autosomal-dominant disorder characterized by ...
Fretzayas Andrew - - 2012
Gilbert syndrome is a common autosomal dominant hereditary condition with incomplete penetrance and characterized by intermittent unconjugated hyperbilirubinemia in the absence of hepatocellular disease or hemolysis. In patients with Gilbert syndrome, uridine diphosphate-glucuronyl transferase activity is reduced to 30% of the normal, resulting in indirect hyperbilirubinemia. In its typical form, ...
Chacko Elizabeth M - - 2011
PURPOSE OF REVIEW: We review recent developments in the approach to the treatment of short stature in patients with Turner and Noonan syndromes. RECENT FINDINGS: Turner syndrome and Noonan syndrome are clinically defined conditions associated with short stature. The Food and Drug Administration (FDA) approved treatment with recombinant human growth ...
Moussavi Mohammad - - 2011
IntroductionReversible cerebral vasoconstriction syndromes (RCVS) have been documented to take place after an inciting event or illness. They present with headache, altered mental status and focal neurologic findings. The differential diagnosis includes primary angiitis of the central nervous system (PACNS) but one major clinical difference is that the symptoms of ...
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.
Picariello Claudio - - 2011
Background: Available evidence on the prognostic role of procalcitonin levels in acute coronary syndromes (ACS) is so far controversial. Aims: To evaluate the association between procalcitonin, major cardiovascular events (MACE) and total mortality in acute coronary syndromes. Methods: Procalcitonin levels were measured in 247 patients admitted to our Intensive Cardiac ...
Hamer Mark - - 2011
The aim was to examine the association between sympathetic nervous activity, depressive symptoms, and metabolic syndrome in a sample of black and caucasian Africans. The sample consisted of healthy men and women; 194 black (aged, mean ± s.d.. 44.1 ± 7.9 yrs) and 206 caucasians (aged, mean ± s.d., 44.7 ...
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 ...
Kataoka H - - 2011
A 26-year-old woman experienced syncope on standing 2-3 times a year for more than 15 years. The attack was typically associated with palpitations and frequently accompanied by a feeling of intense fear. The patient underwent head-up tilt table testing at 70°for 40 min to determine the cause of the syncope. ...
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.
Rico Cepeda P - - 2011
Kounis syndrome was described in 1991 by Kounis and Zavras as the coincidental occurrence of acute coronary syndromes with allergic reactions (anaphylactic or anaphylactoid). Today, allergic angina and allergic myocardial infarction are referred to as Kounis syndrome, and the latter has been reported in association with a variety of drugs, ...
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 ...
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 ...
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:: ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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; ...
Said Sameh M - - 2011
Hypoplastic left heart syndrome remained a largely untreated lesion until the 1980s. In the current era, 75-80% of patients who are managed at "centres of excellence" can be expected to survive into young adulthood after staged palliation. This improved survival has led to an emerging population of patients now entering ...
Mesen Tolga B - - 2011
To describe the prevalence of "genuine" empty follicle syndrome (EFS) and "false" EFS at assisted reproductive technology (ART). Retrospective cohort. Large private fertility center. A total of 12,359 patients who underwent ART between 2004 and 2009. None. The failure to recover an oocyte during oocyte retrieval at ART, with and ...
Galli Jonathan A JA Temple University Hospital, Philadelphia, PA 19140, - - 2011
Coinciding with the increasing rates of cannabis abuse has been the recognition of a new clinical condition known as Cannabinoid Hyperemesis Syndrome. Cannabinoid Hyperemesis Syndrome is characterized by chronic cannabis use, cyclic episodes of nausea and vomiting, and frequent hot bathing. Cannabinoid Hyperemesis Syndrome occurs by an unknown mechanism. Despite ...
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.
Strauss Eric J - - 2011
Iliotibial band syndrome is a common overuse injury typically seen in runners, cyclists, and military recruits. Affected patients report lateral knee pain associated with repetitive motion activities. The diagnosis is usually made based on a characteristic history and physical examination, with imaging studies reserved for cases of recalcitrant disease to ...
Valayannopoulos Vassili - - 2011
Better understanding of disease pathophysiology, improved supportive care and availability of disease-specific treatments for some of the mucopolysaccharidosis (MPS) disorders have greatly improved the outlook for patients with MPS disorders. Optimal management of these multisystemic disorders involves a multidisciplinary team and regular, comprehensive follow-up. Enzyme replacement therapy (ERT) is now ...
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 ...
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 ...
Miyatake Nobuyuki - - 2011
The link between changes in a subject's metabolic syndrome components and his estimated glomerular filtration rate (eGFR) was evaluated in healthy Japanese men. We used data from 120 Japanese men (45.5±8.4 years) with a 1-year follow up. eGFR was defined by a new equation developed for Japan. There were no ...
Al-Hadithy N - - 2011
Plica syndrome is a pathological condition secondary to inflammation. Plicae around the knee are common and generally asymptomatic. They often are misdiagnosed. The morphology of knee plicae varies; mediopatellar plicae are the most common cause of the plicae syndrome. An intermittent dull pain is the most common symptom. Diagnosis is ...
Pelosi Stanley - - 2011
We discuss the rare case of a 68-year-old woman with Vogt-Koyanagi-Harada (VKH) syndrome and sensorineural hearing loss (SNHL) who was successfully treated with intratympanic corticosteroid injections. The patient had presented with bilaterally asymmetric (i.e., moderate and moderate to severe) SNHL, tinnitus, vertigo, and vitiligo. She received two intratympanic injections in ...
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 ...
Marrella Veronica V Institute of Genetic and Biomedical Research, Milan Unit, National Research Council (CNR), Milan bIstituto Clinico Humanitas IRCCS, Rozzano, - - 2011
During the past decade, easy access to sequence analyses has allowed us to increase our understanding of the pathogenesis of severe combined immunodeficiencies. Here, we describe the expanding clinical and immunological spectrum associated with Omenn syndrome phenotype. In particular, we review the cellular and molecular mechanisms involved in the pathophysiology ...
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 ...
Zhong Hai - - 2011
Popliteal vascular entrapment syndrome is an uncommon congenital abnormality of the anatomic relations between the popliteal vessels and the neighboring musculotendinous structures. The purpose of this essay is to describe the CT angiographic findings in the diagnosis and treatment of this syndrome. Digital subtraction angiography is of limited value in ...
Lee Brian H - - 2011
Bardet-Biedl syndrome, BBS, is a rare autosomal recessive disorder with clinical presentations including polydactyly, retinopathy, hyperphagia, obesity, short stature, cognitive impairment, and developmental delays. Disruptions of BBS proteins in a variety of organisms impair cilia formation and function and the multi-organ defects of BBS have been attributed to deficiencies in ...
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