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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 ...
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 ...
Zhu Jian - - 2011
Scimitar syndrome is a relatively rare variety of congenital heart disease characterized by partial or complete anomalous pulmonary venous connection of the right lung into the inferior vena cava. There are virtually no reports of the use of 320-slice computed tomography in establishing the diagnosis. The investigators present a case ...
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, ...
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 ...
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 ...
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. ...
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 ...
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 ...
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, ...
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 ...
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