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Shah Anjali A Childhood Cancer Research Group, University of Oxford, , Oxford, - - 2014
To assess recruitment of children to national clinical trials for acute lymphoblastic leukaemia (ALL) and acute myeloid leukaemia (AML) in Great Britain during 1980-2007 and describe variation by some factors that might influence trial entry. Records of leukaemia patients aged 0-14 years at diagnosis were identified in the National Registry ...
Trandafir Laura Mihaela LM Discipline of Pediatric Surgery, "Grigore T. Popa" University of Medicine and Pharmacy, "St. Mary" Emergency Children's Hospital, Iassy, Romania; - - 2014
Congenital duodenal stenosis is one of the most common causes of neonatal obstruction, which is frequently associated with annular pancreas and Down syndrome. Ectopic pancreas is defined as an abnormally situated pancreatic mass that lacks contact with normal pancreas. Although the association between duodenal stenosis and annular pancreas is very ...
Page Matthew J - - 2013
The authors aimed to describe how often the allocation method and the statistical analyses that deal with bilateral involvement are reported in clinical trials for carpal tunnel syndrome and to determine whether reporting has improved over time. Forty-two trials identified from recently published systematic reviews were assessed. Information about allocation ...
Esposito Luca - - 2012
Hyper-IgE syndrome (HIES) is a rare multisystem disorder with both immunologic and nonimmunological features. It is characterized by extremely elevated IgE serum levels, eczema, and recurrent skin and pulmonary infections. Dental anomalies are often included, such as retention of deciduous teeth together with ectopic eruption or noneruption of permanent teeth. ...
Richards Stephanie - - 2012
Complex regional pain syndrome type 1 (CRPS-1) is a clinical syndrome that affects one or more extremities and is characterised by persistent pain disproportionate to any inciting event, and at least one sign of autonomic dysfunction in the affected limb(s). The pathogenesis of this syndrome is poorly understood, but its ...
Zeft Andrew S - - 2012
Autoinflammatory syndromes are a newly understood group of conditions characterized by recurrent episodes of fever, rash, and serositis. Generalists and specialists should know about and consider these syndromes in the differential diagnosis of recurrent fever. This article reviews the genetics, pathophysiology, clinical presentation, and treatment of several of these relatively ...
Yossepowitch O - - 2012
INTRODUCTION: The occurrence of some of the clinical complications of tickborne relapsing fever varies with Borrelia species. For example, adult respiratory distress syndrome (ARDS), a newly reported complication, was described so far only with B. hermsii infection. MATERIALS AND METHODS: A previously healthy young Israeli man was admitted for fever ...
Decoutere Liesbeth - - 2012
Case description A 85 year old woman with a history of severe depression treated with mirtazapine and venlafaxine was admitted to the hospital twice after progressive deterioration of her general condition evolving to unconsciousness. Clinicians diagnosed a metabolic encephalopathy caused by a urinary tract infection which was treated appropriately. Although mirtazapine ...
Piepoli Ada - - 2012
BACKGROUND: Juvenile polyposis syndrome with gastric involvement may mimic Ménétrier's disease, which is correlated to transforming growth factor (TGF)α overproduction and PDX1 upregulation in the gastric fundus. AIM: We report a family with Juvenile polyposis syndrome where one member showed typical features of Ménétrier's disease and concomitant Helicobacter pylori infection. ...
Badolato Raffaele R Pediatric Clinic and A. Nocivelli Institute of Molecular Medicine, Brescia, Italy. - - 2012
Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is a rare immunodeficiency disorder. We report three patients with WHIM syndrome who are affected by Tetralogy of Fallot (TOF). This observation suggests a possible increased risk of TOF in WHIM syndrome and that birth presentation of TOF and neutropenia should lead to ...
Toma Andréa - - 2012
Myelodysplastic syndromes are associated with a risk of severe infections. While neutropenia is likely to be the main predisposing factor, several other immune defects have been reported, including impaired neutrophil function, B-, T- and NK-cell defects and the possible consequences of iron overload due to red blood cell transfusions. The ...
Turba Maria Elena - - 2012
A fundamental role for the endosymbiotic bacteria Wolbachia pipientis in the pathogenesis of Dirofilaria immitis infections has emerged in recent years. Diagnostic opportunities arising from this breakthrough have not yet been fully exploited. This study was aimed at developing conventional and real-time PCR assays to carry out a molecular survey ...
Wilkie I W - - 2012
Pasteurella multocida is an enigmatic pathogen. It is remarkable both for the number and range of specific disease syndromes with which it is associated, and the wide range of host species affected. The pathogenic mechanisms involved in causing the different syndromes are, for the most part, poorly understood or completely ...
Coelho M - - 2012
We report on a case of diaphragmatic flutter (belly dancer syndrome) in the paediatric population. A 14 year old boy was admitted because of involuntary movements in the upper abdomen. He had a past history of recurrent middle ear infections and had been operated on with insertion of bilateral tympanostomy ...
Zabsonré Joelle Tiendrebeogo - - 2012
We report on a 46-year-old woman, who developed streptococcus B septic polyarthritis in the context of septicemia of urinary origin. This case revealed a Good's syndrome whose diagnosis was made on the basis of a profound hypogammaglobulinaemia, a large decrease of peripheral B cells and a thymoma disclosed on chest ...
Ho J - - 2012
Mycobacterium sherrisii is a recently described mycobacterium closely related to Mycobacterium simiae. There have been only a few reports of this organism causing disease, predominantly in the setting of HIV with severe immunosuppression. We report the first case of disseminated M. sherrisii associated with immune reconstitution inflammatory syndrome.
Gilchrist Francis J - - 2012
Burkholderia cepacia complex (BCC) is a group of 17 closely related bacterial species that can cause pulmonary infection in patients with cystic fibrosis (CF). The clinical manifestations of BCC infection are varied but can include cepacia syndrome, which is a rapidly progressing necrotising pneumonia with an almost universally fatal outcome. ...
Tsai Yih-Jeng - - 2012
Lemierre syndrome is an extremely rare disease characterized by oropharyngeal infection, septicemia, internal jugular vein thrombosis, and skip lesions. The most common causative pathogen is Fusobacterium necrophorum. We reported a 45-year-old woman who presented with left neck painful swelling and septicemia. Magnetic resonance imaging of the head and neck demonstrated ...
Wu Alice Ying-Jung - - 2012
Lemierre's syndrome is characterized by septic thrombophlebitis of the internal jugular vein that is complicated by metastatic infections. The disease usually presents after oropharyngeal infection. In rare cases, odontogenic infection has been implicated as culprit. Here, we report a case of Lemierre's syndrome that most likely developed secondary to toothpick ...
Hebert Courtney - - 2012
Objective. Healthcare providers need a better empiric antibiotic prescribing aid than the traditional antibiogram, which supplies no information on the relative frequency of organisms recovered in a given infection and which is uninformative in situations where multiple antimicrobials are used or multiple organisms are anticipated. We aimed to develop and demonstrate ...
Jaiswal Ashish K - - 2012
Lower respiratory tract infection is one of the common causes of morbidity in India which is occasionally undiagnosed. In this regard tracheobronchomegaly is one of those conditions which masquerade as chronic bronchitis and bronchiectasis and are usually undiagnosed. It is a well-defined clinical and radiologic entity characterized by marked dilatation ...
Biotti Damien - - 2012
A previously healthy 50-year-old man complained of acute bilateral loss of vision over 24 hours associated with tingling of his hands and feet. During the first 48 hours of hospitalization, he evolved quadriplegia, facial diplegia, bulbar palsy, and respiratory distress requiring ventilator assistance. At the same time vision deteriorated to ...
Malaki Majid - - 2012
An 8-month-old girl with a history of asphyxia and respiratory distress immediately after birth was hospitalized at her fourth month of age with the diagnosis of kidney infection and it was revealed that she had a unilateral multicystic dysplastic kidney. In recent admission, she presented to emergency room with fever, ...
Karagöl Belma Saygılı - - 2012
Congenital isolated pleural effusion, a non-specific accumulation of fluid in the pleural space, is an uncommon anomaly which can be associated with structural malformations, inflammatory or iatrogenic problems, genetic syndromes or fetal hydrops. Here, we present two neonates with isolated congenital pleural effusion, one of which was associated with Down ...
Sagristà Marc - - 2012
The authors report a case of an inguinal bubo in a young man caused by an anaerobe, Prevotella bivia, which was acquired during oral sexual intercourse. As far as the authors know, this is the first reported case of a sexually transmitted infection by Prevotella. Prevotella spp. inhabit the oral ...
Buchbinder David - - 2012
X-linked hyper IgM syndrome is associated with abnormalities in the gene encoding CD40 ligand (CD40LG). A typical phenotype evolves during infancy in affected males. This phenotype includes neutropenia, dysgammaglobulinemia, bacterial sinopulmonary infections, and opportunistic infections. In the absence of the typical phenotypic features, clinicians must maintain a high level of ...
John Teny Mathew - - 2012
Macrophage activation syndrome (MAS) is a systemic disorder with a high mortality, commonly associated with rheumatological conditions, but which can also occur as a complication of several infections. Here we present a case of MAS following Acinetobacter baumannii sepsis. Early institution of therapy with prednisolone, cyclosporine, colistin, and polymyxin resulted ...
Burch-Smith Rhonda - - 2012
We report, for the first time, a primary oral presentation of a germ cell yolk sac tumor in a 4-year-old girl with Aicardi syndrome. The diagnosis, differential diagnosis, and histogenesis are discussed.
Leordean Viorica - - 2012
The aim of this study follows the detailed evolution of a child diagnosed with prune-belly syndrome. This syndrome is a complex dysplasia, a rare pathology in children, characterized by the triad - the classic - hypo- or aplasia of righteous abdominal, cryptorchidism, abnormality of the urinary tract; also, it can ...
Peluso Michael J - - 2012
Hemophagocytic syndrome (HPS) arises secondary to genetic, rheumatologic, neoplastic, and infectious causes. We discuss a patient whose presentation was consistent with systemic infection but was discovered to have HPS of unknown etiology. The presenting symptoms, as well as unremarkable malignancy and rheumatologic workups, led to the pursuit of an infectious ...
Karsen H - - 2012
 Brucellosis may involve multiple organs and progresses with complications. Brucella endocarditis, disseminated intravascular coagulopathy (DIC) and chronic renal insufficiency are rare complications of brucellosis. Capillary leak syndrome due to brucellosis is seen even more rarely and up to this date, only one case has been reported. Our case will probably ...
Keir Lindsay S LS Academic Renal Unit, University of Bristol, Bristol, - - 2012
Hemolytic uremic syndrome is the leading cause of acute kidney injury in childhood. Ninety percent of cases are secondary to gastrointestinal infection with shigatoxin-producing bacteria. In this review, we discuss the molecular mechanisms of shigatoxin leading to hemolytic uremic syndrome and the emerging role of the complement system and vascular ...
Sridhar Arani A Children's Hospital, Leicester Royal Infirmary, Leicester, UK. - - 2012
Tuberculous radiculomyelitis (TBRM) is an uncommon complication of TB meningitis. The authors report the case of a 10-year-old Asian girl with trisomy 21, who presented with acute urinary retention and fever. She was initially treated for a urinary tract infection. After an acute neurological deterioration she was found to have ...
Rajabally Hanaa H Department of General Medicine, Chase Farm Hospital, Middlesex, - - 2012
A 73-year-old man presented in status epilepticus. He had a long history of epilepsy for which he was treated with regular phenytoin and phenobarbitone. On admission, his phenytoin level was found to be subtherapeutic and was treated with rectal diazepam and intravenous lorazepam. He was later started on an infusion ...
Costain G - - 2011
Background  Recent advances in genetics are particularly relevant in the field of intellectual disability (ID), where sub-microscopic deletions or duplications of genetic material are increasingly implicated as known or suspected causal factors. Data-driven reports on the impact of providing an aetiological explanation in ID are needed to help justify widespread ...
Sá Erika Bettini de - - 2011
Antiphospholipid syndrome (APS), more common in females, manifests clinically as thrombosis and/or recurrent fetal loss. Hemolytic autoimmune anemia and neurological, cardiac and cutaneous manifestations are common. This is the case report of a male patient whose first manifestation of the disease was gangrene of the auricle. The diagnosis of APS ...
Bang Yun Yi - - 2011
Lemierre syndrome is caused by acute oropharyngeal infections with secondary septic thrombophlebitis of the internal jugular vein and is characterized by frequent metastatic infections. A 56-year-old man presented with severe reddish inflammatory swelling of the right cervical soft tissue. Thrombophlebitis in the right internal jugular vein and multiple pulmonary embolisms ...
Dror Yigal Y The Hospital For Sick Children, University of Toronto, Ontario, - - 2011
Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterized by pancreatic exocrine insufficiency and bone marrow failure, often associated with neurodevelopmental and skeletal abnormalities. Mutations in the SBDS gene have been shown to cause SDS. The purpose of this document is to provide draft guidelines for diagnosis, evaluation of organ ...
Wang Sa A - - 2011
Sustained clinical cytopenia is a frequent laboratory finding in ambulatory and hospitalized patients. For pathologists and hematopathologists who examine the bone marrow (BM), a diagnosis of cytopenia secondary to an infiltrative BM process or acute leukemia can be readily established based on morphologic evaluation and flow cytometry immunophenotyping. However, it ...
Haruta Izumi - - 2012
A 36-year-old Japanese woman with anorexia nervosa (AN) was admitted to our department because of severe emaciation. Although we were thorough in her clinical management and were careful to avoid precipitating refeeding syndrome, disseminated intravascular coagulation (DIC) developed 3 weeks after hospitalization. We treated her for DIC with sepsis using ...
Doll Ines - - 2011
OBJECTIVE: Polycystic ovarian syndrome is one of the most frequent endocrine dysfunctions in women in their fertile age. To date, a clear definition of the disease remains controversial among experts, partly because study results concerning diagnostics and therapy are incoherent. In this survey, we intend to give an insight into ...
Valverde Ana Herrero - - 2011
Corticobasal syndrome (CBS) has a heterogeneous clinical presentation with no specific pathologic substratum. Its accurate diagnosis is a challenge for neurologists; in order to establish CBS definitively, postmortem confirmation is required. Some clinical and radiological features can help to distinguish it from other neurodegenerative conditions, such as Creutzfeldt-Jakob disease (CJD). ...
Fukuda Aki - - 2011
We report a case of recurrent knee valgus deformity in a patient with Ellis-van Creveld syndrome. Varus osteotomy, distraction osteogenesis, or epiphyseal stapling is one treatment option for valgus malalignment to improve appearance, gait, and function. However, surgical correction of valgus knee deformity by varus osteotomies of the proximal tibia ...
Rathleff M S - - 2011
Medial tibial stress syndrome is a common overuse injury characterized by pain located on the medial side of the lower leg during weight bearing activities such as gait. The purpose of this study was to apply linear and nonlinear methods to compare the structure of variability of midfoot kinematics and ...
Jöckel Jens Arne - - 2011
Ellis-van Creveld Syndrome (EVC) is a rare autosomal recessive disorder. In 1940 Richard W. Ellis and Simon van Creveld first reported on a rare skeletal dysplasia, which to emphasize the main clinical characteristics, was termed "chondro-ectodermal dysplasia". The ectodermal involvement includes the skin, hair and nails while the chondrodysplastic characteristics ...
Kim Jongkyu - - 2011
Abstract Background: Higher cardiorespiratory fitness (CRF) and muscle fitness (MF) attenuate metabolic syndrome prevalence in men. However, associations of CRF and MF with metabolic syndrome were poorly understood in South Korean men. Therefore, this study aimed to examine the independent and joint associations of CRF and MF on metabolic syndrome ...
Boonstra R H - - 2011
A 62year old man developed a compartment syndrome of the thigh after total knee arthroplasty. Twelve years previously he had a HTO of the same knee complicated by a compartment syndrome of the calf. The clinical diagnosis was confirmed with intracompartmental pressure measurement. Following fasciotomy pressures were normalized and further ...
Galli Manuela - - 2011
The aim of this study was to quantify the gait patterns of adults with joint hypermobility syndrome/Ehlers-Danlos syndrome (JHS/EDS-HT) hypermobility type, using Gait Analysis. We quantified the gait strategy in 12 JHS/EDS-HT adults individuals (age: 43.08+6.78years) compared to 20 healthy controls (age: 37.23±8.91years), in terms of kinematics and kinetics. JHS/EDS-HT ...
Struyf F - - 2011
The purpose of this manuscript is to review the knowledge of scapular positioning at rest and scapular movement in different anatomic planes in asymptomatic subjects and patients with shoulder impingement syndrome (SIS) and glenohumeral shoulder instability. We reviewed the literature for all biomechanical and kinematic studies using keywords for impingement ...
Daya Mahendra - - 2011
Bone abnormalities and nerve compression are sparsely reported features of amniotic band syndrome. No studies of the vascular architecture of limbs affected by this syndrome have been published. Patients with amniotic band syndrome affecting the limbs were evaluated in the period between 1997 and 2007. The arterial blood supply was ...
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