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Scully Marie M Department of Haematology, University College London Hospital, London, - - 2014
Thrombotic thrombocytopenic purpura (TTP) and atypical haemolytic uraemic syndrome (aHUS) are acute, rare life-threatening thrombotic microangiopathies that require rapid diagnosis and treatment. They are defined by microangiopathic haemolytic anaemia and thrombocytopenia, with renal involvement primarily in aHUS and neurological and cardiological sequelae in TTP. Prompt treatment for most cases of ...
Kumar S Sathish S Senior Resident, Department of Pediatrics, ESI PGI MSR , K.K.Nagar Chennai, India - - 2014
Posterior reversible encephalopathy syndrome (PRES) is a recently described condition, wherein there is vasogenic oedema, seen on neuroimaging, predominantly over the parieto occipital regions of the cerebrum. Though, as the name implies, the condition is reversible, there may be fatalities and neurological sequelae. We are reporting a 9-year-old female child ...
Raval Chintan Madhusudan CM Department of Psychiatry, Government Medical College and Sir Takhtsinhji General Hospital, Bhavnagar, Gujarat, - - 2014
Neuroleptic malignant syndrome is an acute, life-threatening medical complication caused by antipsychotics. It is commonly seen with typical antipsychotics and very rare with atypicals. Cases have been reported with quetiapine also, but this case is of special interest because it occurred in patient who was stable on maintenance quetiapine 200 ...
Llamas-Velasco Mar M Department of Dermatology, Hospital Infanta Cristina, Parla, Madrid, Spain. Electronic address: - - 2013
The dermatologic hallmark of a recently described BAP1-associated cancer susceptibility syndrome is a dome-shaped nevus with distinct clinicopathological features, first delineated by Wiesner and colleagues. Here we describe the leading histopathological criteria of Wiesner nevus. Wiesner nevus is composed of various nevomelanocytic populations all showing different degrees of atypia ranging ...
Burghardt Kj K 1Department of Clinical Social and Administrative Sciences, College of Pharmacy, University of Michigan, Ann Arbor, - - 2013
Objective:The increasing rates of metabolic syndrome and cardiovascular disease in schizophrenia led to investigation into their causes, including atypical antipsychotics and pharmacogenetic variants. This study focused on the peripheral vasculature as a cardiovascular phenotype and the influence of atypical antipsychotics, the aberrant metabolism of nitric oxide caused by endothelial nitric ...
Hu Hushi - - 2013
Atypical haemolytic uraemic syndrome (aHUS) is a rare disorder usually caused by dysregulation of the alternative complement pathway. Uncontrolled complement activation results in systemic complement-mediated thrombotic microangiopathy (TMA) and subsequent multi-organ damage. The two most common extrarenal complications comprise neurological and cardiovascular involvement. Eculizumab, a humanised anti-C5 monoclonal antibody, has ...
Gaikwad Sophie L - - 2013
Primary Sjögren's syndrome is an autoimmune disease that presents with xerostomia and keratoconjunctivitis sicca (due to chronic lymphocytic inflammation of the salivary and lacrimal glands) and in some cases extraglandular features. Patients typically have positive antinuclear, anti-Ro, and anti-La antibodies; however, around 20% to 30% do not and are therefore ...
Tanimoto Tetsuya - - 2013
To the Editor: With regard to the article by Legendre et al. (June 6 issue)(1): assessment of the 37 patients with atypical hemolytic-uremic syndrome is difficult, since the process of selection seems opaque, particularly for the 20 patients in trial 2. It would have been beneficial to have these patients ...
Kistler Andreas D - - 2013
To the Editor: With regard to the article by Legendre et al. (June 6 issue)(1): assessment of the 37 patients with atypical hemolytic-uremic syndrome is difficult, since the process of selection seems opaque, particularly for the 20 patients in trial 2. It would have been beneficial to have these patients ...
Amadio Anthony - - 2013
To the Editor: With regard to the article by Legendre et al. (June 6 issue)(1): assessment of the 37 patients with atypical hemolytic-uremic syndrome is difficult, since the process of selection seems opaque, particularly for the 20 patients in trial 2. It would have been beneficial to have these patients ...
Ring Troels - - 2013
To the Editor: With regard to the article by Legendre et al. (June 6 issue)(1): assessment of the 37 patients with atypical hemolytic-uremic syndrome is difficult, since the process of selection seems opaque, particularly for the 20 patients in trial 2. It would have been beneficial to have these patients ...
- - 2013
To the Editor: With regard to the article by Legendre et al. (June 6 issue)(1): assessment of the 37 patients with atypical hemolytic-uremic syndrome is difficult, since the process of selection seems opaque, particularly for the 20 patients in trial 2. It would have been beneficial to have these patients ...
Arun Priti P Department of Psychiatry, Government Medical College and Hospital, Chandigarh, - - 2013
Charles Bonnet syndrome (CBS) is not uncommon disorder. It may not present with all typical symptoms and intact insight. Here, a case of atypical CBS is reported where antipsychotics were not effective. Patient improved completely after restoration of vision.
Chamney Sarah - - 2013
We report the case of an 8-year-old boy who presented with right cleft lip and palate, left Tessier number 3 and 11 clefts, and limb abnormalities because of amniotic band syndrome. He was found to have an atypical iris and optic disk nasal defect and a right-sided ptosis, which have ...
Politis Antonis M - - 2013
In elderly patients, exposure to antipsychotic medication and subsequent withdrawal may lead to the development of persistent extrapyramidal symptoms, possibly including a syndrome suggested to be tardive parkinsonism. We describe a case in which withdrawal of antipsychotics was unexpectedly associated with progressive deterioration, rather than improvement, of extrapyramidal parkinsonian symptoms. ...
Nayer Ali - - 2013
Hemolytic-uremic syndrome (HUS) is a rare life-threatening disorder characterized by microangiopathic hemolytic anemia, thrombocytopenia, and impaired renal function. A thrombotic microangiopathy underlies the clinical features of HUS. In the majority of cases, HUS follows an infection with toxin-producing bacteria such as verotoxin-producing Escherichia coli. In some cases, HUS is not ...
Kluk J - - 2013
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is a new autoinflammatory syndrome caused by mutations in proteasome subunit, beta type, 8 (PSMB8). We report a young adult with a novel homozygous PSMB8 mutation and marked skin disease. This article is protected by copyright. All rights reserved.
Cho Eunhe - - 2013
Saethre-Chotzen syndrome is a very rare autosomal dominant congenital disorder characterized by craniosynostosis and acrocephalosyndactyly. It is caused by a mutation in TWIST1, located on chromosome 7p21. A shortage of functional TWIST1 protein affects the development and maturation of cells in the skull, face, and limbs. The patient described in ...
Mehta Kumud - - 2013
Atypical hemolytic uremic syndrome (aHUS) associated with membranoproliferative glomerulonephritis (MPGN) is an uncommon clinical presentation, especially in children. We report a 8-year-old-boy who presented like aHUS but the kidney biopsy showed MPGN type 1.
Sheen Volney - - 2013
Rett syndrome is a neurodevelopmental disorder that occurs in individuals with a mutation in the X-linked methyl-CpG-binding protein 2 (2MECP2) gene. 2MECP2 mutations produce a high degree of variability in the clinical phenotypes including the classic Rett features of head growth deceleration, psychomotor regression, deviant communicative ability, hand stereotypes, autonomic ...
Lee Jw - - 2013
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. Lemaire et al. (2013) Nature Genetics 45 (5): 531-536.
Phatharacharukul Parkpoom - - 2013
A 24-year-old male with a history of spondyloarthropathy presented with high fever, cervical lymphadenopathy and generalized maculopapular rash. He was treated with prednisolone for chronic uveitis before being switched to sulfasalazine 3 weeks prior to admission. Laboratory findings revealed marked leukocytosis with frequent atypical lymphocytes. Sulfasalazine was discontinued and the ...
Wong Edwin K S EK The Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, - - 2013
Central to the pathogenesis of atypical haemolytic uraemic syndrome (aHUS) is over-activation of the alternative pathway of complement. Inherited defects in complement genes and autoantibodies against complement regulatory proteins have been described. The use of plasma exchange to replace non-functioning complement regulators and hyper-functional complement components in addition to the ...
Tsai Han-Mou - - 2013
Since the last review in 2007 of thrombotic thrombocytopenic purpura (TTP) and microangiopathic hemolytic anemia in the Clinics, further understanding of the nature of TTP and atypical hemolytic uremic syndrome (aHUS) has led to increasing use of rituximab in the treatment of TTP and the approval in 2011 of eculizumab ...
Gilbert Rodney D - - 2013
BACKGROUND: Atypical haemolytic uraemic syndrome (aHUS) is caused by dysregulated complement activation. A humanised anti-C5 monoclonal antibody has recently become available for treatment of this condition CASE-DIAGNOSIS/TREATMENT: We present the first description of an infant with an activating mutation of complement factor B successfully treated with eculizumab. On standard doses ...
Gamo Reyes - - 2013
BACKGROUND: Dermoscopic screening facilitates early detection of melanoma and is recommended in patients with multiple or atypical nevi. OBJECTIVES: To investigate whether dermoscopic features of acquired melanocytic nevi differ between six body sites (neck, axilla, pectoral area, shoulders, buttocks, legs) and the trunk. METHODS AND MATERIALS: One hundred six patients ...
Mehdian Hossein H Centre for Spinal Studies and Surgery, Queen's Medical Centre, Nottingham, UK. - - 2013
We present the case of an 18-year-old girl with a scoliosis (long C-shaped curve) in association with an atypical Rett's syndrome. In order to attain a full correction and to provide her with adequate posture and sitting balance, segmental instrumentation was utilised from the high thoracic spine to the pelvis. ...
Marschik Peter B - - 2013
We delineated the achievement of early speech-language milestones in 15 young children with Rett syndrome (MECP2 positive) in the first two years of life using retrospective video analysis. By contrast to the commonly accepted concept that these children are normal in the pre-regression period, we found markedly atypical development of ...
Castronovo Chiara - - 2013
Sotos syndrome, which is characterized by overgrowth, macrocephaly, distinctive facial features, and developmental delay, arises from mutations and deletions of the NSD1 gene at 5q35.3. Sixteen NSD1 intragenic deletions (including one in a mosaic condition) and one partial duplication have been reported in patients with Sotos syndrome. Here, we describe ...
Said Mas Ayu - - 2013
OBJECTIVE: to determine the prevalence of metabolic syndrome among schizophrenia patients receiving monotherapy antipsychotic in Malaysia. METHOD: A cross-sectional study was conducted at multiple centres between June 2008 and September 2011. Two hundred and five patients who fulfilled the DSM IV-TR diagnostic criteria for schizophrenia and who had been on ...
Cecchini Michael - - 2013
Background:Yellow nail syndrome (YNS) is a rare clinical entity of unknown etiology that is characterized by a triad of yellow nails, respiratory manifestations, and lymphedema. The condition appears in the mid- to later years of life and only rarely in childhood. We describe a rare case of YNS with an ...
Modena Piergiorgio - - 2013
Atypical teratoid rhabdoid tumor (ATRT) patients display a dismal median overall survival of less than 1 year. A consistent fraction of cases carries de-novo SMARCB1/INI1 constitutional mutations in the setting of the "rhabdoid tumor predisposition syndrome" and the outcome is worst in infant syndromic ATRT patients. We here describe a ...
Yachoui Ralph - - 2013
The Stevens-Johnson syndrome (SJS) classically involves a targetoid skin rash and the association of the oral mucosa, genitals, and conjunctivae. Recently, there have been several documentations of an incomplete presentation of this syndrome, without the typical rash, usually associated with the mycoplasma pneumoniae infection. Our case illustrates that this important ...
Greives Matthew R - - 2013
ABSTRACT: The RUNX2 transcription factor regulates osteoblast differentiation. Its absence, as with cleidocranial dysplasia, results in deficient bone formation. However, its excess seems to follow a dose response of over ossification. RUNX2 duplications (3 copies) are exceedingly rare but have been reported to cause craniosynostosis. There are no existing reports ...
Patra Bichitra Nanda - - 2013
An 18 year old male diagnosed as a case of bipolar affective disorder (BPAD), developed neuroleptic malignant syndrome (NMS) following treatment with olanzapine (20 mg per day), an atypical antipsychotic drug. NMS is usually seen with typical antipsychotic drugs. The patient was diagnosed as a case of NMS, offending agent ...
Uslu-Gökceo─člu Arife - - 2013
Atypical hemolytic uremic syndrome (aHUS) is a disease caused by pathologies in the alternative complement system. The prevalence of aHUS is 10% of all aHUS cases. The subgroup of aHUS designated as DEAP (DEficiency of CFHR Proteins and CFH Autoantibody Positive)-HUS because of autoantibody to complement factor H (CFH) and ...
Queirós João - - 2013
Background. Cogan's syndrome is a rare clinical entity whose etiopathology is still unknown, and the treatment strategies are not clearly defined. Case. A 23-year-old male presented with symptoms of headache, peripheral facial palsy, persistent right hearing loss and bilateral papillitis. Workup excluded all infectious, granulomatous, neoplastic, and immune causes. The ...
Gandhi Vanita - - 2013
We describe a case of a 22-year-old man who presented with clinical features of atypical haemolytic uraemic syndrome and in whom genetic analysis of complement regulatory proteins demonstrated a CD46 mutation. He was treated with plasma exchange, intermittent haemodialysis and blood transfusions. At 6-month follow-up his haematological parameters and renal ...
Iwaki Noriko - - 2013
Recently, atypical Castleman's disease (CD) was reported in Japan. This disease is considered as TAFRO syndrome or non-idiopathic plasmacytic lymphadenopathy (IPL), a constellation of clinical symptoms, namely, thrombocytopenia, anasarca, fever, reticulin fibrosis, and organomegaly without hyper-γ-globulinemia. Histopathologically, this disease is similar to hyaline vascular (HV)-type CD. Here, we present a ...
Philbin Deirdre - - 2013
A 36-year-old man with known schizophrenia, presented with increasingly bizarre behaviour. The development of catatonia and subsequent neuroleptic malignant syndrome in itself posed numerous therapeutic challenges. However, following resolution of neuroleptic malignant syndrome, the reintroduction of antipsychotics was not tolerated. This case report proposes a novel use for electroconvulsive therapy ...
Reid Victoria Louise - - 2013
Atypical haemolytic uraemic syndrome (aHUS), unlike typical HUS is due to complement dysregulation. At least one abnormality of the complement system can be identified in 70% of patients. aHUS is associated with a poor prognosis with 25% mortality and 50% progress to end-stage renal disease. Genetic abnormalities in the complement ...
Koga Michiaki - - 2013
Bickerstaff brainstem encephalitis (BBE) is characterized by acutely progressive bilateral ophthalmoparesis and ataxia with impaired consciousness or pyramidal signs, or both; all of which are followed by a monophasic course with good recovery. Alike Guillain-Barré syndrome (GBS), BBE is proposed to have an autoimmune mechanism triggered by antecedent infection. The ...
Hartmann Andreas - - 2013
Treatment of tics and Gilles de la Tourette syndrome (GTS) by nondopaminergic drugs was initiated more than three decades ago. These approaches were driven by the wish to circumvent antipsychotic-related side effects (metabolic disturbances, parkinsonian syndromes, tardive dyskinesia) or to use these treatments as a valuable add-on therapy in patients ...
Cavanna Andrea E - - 2013
Tourette syndrome is a neurodevelopmental disorder characterized by the chronic presence of multiple motor tics and at least one vocal/phonic tic for the duration of 1 year. The clinical picture of patients with Tourette syndrome is often complicated by tic-related behavioral problems and associated psychopathology. The pathophysiology of Tourette syndrome ...
Zimbudzi Edward E Department of Nephrology, Monash Health, Monash Medical Centre, Victoria, - - 2013
Atypical hemolytic uremic syndrome (aHUS) is a very rare, life-threatening, progressive disease that frequently has a genetic component and in most cases is triggered by an uncontrolled activation of the complement system. Successful treatment of aHUS with plasma infusions and therapeutic plasma exchange (TPE) is well reported. TPE has been ...
Said M A - - 2012
Introduction: This study aimed to determine the prevalence of metabolic syndrome and risk of coronary heart disease (CHD) in patients with schizophrenia receiving antipsychotics in Malaysia. Methods: This cross-sectional study, conducted at multiple centres, involved 270 patients who fulfilled the Diagnostic and Statistical Manual of Mental Disorders (DSM)-IV-TR diagnostic criteria ...
Buttmann Mathias - - 2012
A novel type of encephalomyelitis was first described as chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) in 2010 and few additional patients were reported since then. Partially due to its unknown aetiology and a lack of pathognomonic features some have suggested that CLIPPERS may not represent ...
Lederer Damien - - 2012
Pai syndrome is a rare disorder characterized by congenital nasal or facial polyp, midline cleft lip, pericallosal lipoma, ocular anomalies, and normal neuropsychological development. Here, we report on three patients with Pai syndrome and atypical findings: temporal triangular alopecia, posterior lenticonus, bilateral palatal pits, bifid uvula, hypospadias, sacral dimple, true ...
Vu Quang Van - - 2012
BACKGROUND: DiGeorge syndrome is a congenital malformation characterized by variable defects of the thymus, heart and parathyroid glands. Athymic patients are classified as exhibiting complete DiGeorge syndrome. Some of these patients may also exhibit oligoclonal T-cell expansion, generalized rash and lymphadenopathy at some point after birth. This rare condition is ...
Sato Mai - - 2013
Rituximab, an anti-CD20 antibody that targets B cells, is a promising agent against steroid-dependent and steroid-resistant nephrotic syndrome in children. We report a 3-year-old boy who presented with atypical Pneumocystis jiroveci pneumonia (PCP) following administration of rituximab for refractory nephrotic syndrome. He had received cyclosporine and daily prednisolone for over ...
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