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Results 301 - 350 of 2419
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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 ...
López-Cepero Ronald - - 2011
Down syndrome is the most studied chromosomal abnormality, and the risk of having a child with Down syndrome increases as maternal age increases. The prevalence of Down syndrome has been increasing in the last decade because more women older than 35 years of age are having children. In recent decades, ...
Lee H S - - 2011
Hypertriglyceridemia and intracellular lipid overload are commonly present in both the chronic kidney disease (CKD) and metabolic syndrome. Hypertriglyceridemia in the metabolic syndrome arises mostly from increased lipoprotein synthesis, while that in the CKD is mainly caused by decreased catabolism. In metabolic syndrome, enhanced plasma levels of free fatty acids ...
Sugumaran Hema K - - 2011
A 5-year-old girl with Noonan-neurofibromatosis syndrome was diagnosed with bilateral superior oblique palsy. At surgery, the right superior oblique tendon was absent, and further exploration revealed abnormal tissue inserting into Tenon's capsule. Orbital imaging was not performed. Congenital absence of the superior oblique tendon was diagnosed. Although Noonan syndrome is ...
Rolland Yves - - 2011
Frailty in the older population is a clinical syndrome which evaluate a risk level. The Frailty syndrome defines a reduction of the adaptation capacity to a stress. It can be modulated by physical, psychological and social factors. The screening of the frailty syndrome is relevant for older people without disability ...
Wang Xiao-Yun - - 2011
The use of Chinese medicine (CM) for the management of: menopausal syndrome is considered effective both at home and abroad, and more and more clinical studies are confirming its efficacy. However, many problems still exit in current studies, such as the standard of CM syndrome differentiation, the design methodology and ...
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 ...
Motta Leonardo Ponce da - - 2011
Described here is a case of postmalaria neurological syndrome in a patient who presented infection by Plasmodium falciparum two months earlier. The patient received empiric use of acyclovir for herpetic meningoencephalitis, but neuropsychiatric symptoms improved only after administration of methylprednisolone.
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 ...
Jensen-Steed Ginger - - 2011
Treacher Collins syndrome is named after the English surgeon Edward Treacher Collins, who initially described the syndrome's traits in 1900. This rare autosomal dominant disorder affects approximately 1:50 000 live births. It primarily affects the development of facial structures through a mutation in the TCOF1 gene found at the 5q32-33.1 ...
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 ...
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 ...
Nogueira Roberto José Negrão - - 2011
Although considered a well-known condition, there is only one study describing the body composition among individuals with Williams-Beuren syndrome. The aim was to characterize the nutritional status in Brazilian individuals with this condition. Cross-sectional study was designed to evaluate clinical and nutritional data of 17 Brazilian patients. Z-scores for height, ...
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 ...
Liu Johnson M - - 2011
At the Sixth International Congress on Shwachman-Diamond syndrome, held at the New York Academy of Sciences on June 28-30, 2011, researchers from around the world met to discuss the latest clinical and basic science relating to this puzzling condition.
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 ...
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 ...
Veena K M - - 2011
Ellis-van Creveld syndrome is a rare congenital genetic disorder having autosomal recessive inheritance. It is a syndrome affecting the Amish population of Pennsylvania in USA with prevalence rate of 1/5,000 live at birth. In non-Amish population, the birth prevalence is 7/1,000,000. The syndrome is characterized by bilateral postaxial polydactyly of ...
Ha Jae Yong - - 2011
The aim of this study was to investigate the frequency of the metabolic syndrome in patients with chronic lower back pain in Korea and to evaluate the differences in clinical characteristics in chronic lower back pain patients with and without metabolic syndrome. This was a cross-sectional study using data from ...
Kim Min Kyu - - 2011
Lynch syndrome is a hereditary cancer syndrome that increases the risks of colorectal and gynecologic malignancies such as endometrial and ovarian cancer. Studies have shown that mutations in mismatch repair genes (MSH2, MSH6, and MLH1) are associated with Lynch syndrome. The aim of our study was to estimate the value ...
Laframboise Michelle A - - 2011
To present the diagnostic and clinical features including management of acute compartment syndrome (ACS) of the foot and to create a sense of emergency amongst clinicians of this rare and dangerous condition. A 28-year old male soccer player on acetylsalicylic acid (ASA) and verapamil presented with severe swelling, paresthesia, and ...
Payne K - - 2011
This case report presents an unusual incidental radiographic finding on a dental panoramic radiograph that caused diagnostic confusion. A 46-year-old female presented with symmetrical sclerotic cortical thickening of the anterior mandible visible on radiograph, with no other major clinical examination findings. The patient subsequently showed no change in radiographic appearance ...
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 - - 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 ...
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 ...
Padron Eric - - 2011
The 5q- syndrome is a myelodsyplastic syndrome (MDS) characterized by symptomatic anemia and an indolent natural history with low transformation potential. Our understanding of the molecular pathogenesis of this disease has advanced considerably, paralleled by the delineation of the relevant targets underlying selective lenalidomide sensitivity. The context in which one ...
Macpherson Lee L Department of Haemato-oncology, King's College London, London, - - 2012
Podosomes are actin-based adhesions involved in migration of cells that have to cross tissue boundaries such as myeloid cells. The Wiskott Aldrich Syndrome Protein regulates de novo actin polymerization during podosome formation and it is cleaved by the protease calpain during podosome disassembly. The mechanisms that may induce the Wiskott ...
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 ...
Wilson Lisa - - 2012
Mild forms of serotonin syndrome can potentially be fatal, if not recognized. The increased use of serotonergic agents makes the awareness of its prevalence, various presentations, diagnostic evaluation, and treatment a clinical imperative. It is important to note that serotonin syndrome can only be diagnosed clinically in the presence of ...
Saraydemir Safak - - 2011
Down syndrome is a chromosomal condition caused by the presence of all or part of an extra 21st chromosome. It has different facial symptoms. These symptoms contain distinctive information for face recognition. In this study, a novel method is developed to distinguish Down Syndrome in a custom face database. Gabor ...
Revuelta Gonzalo J - - 2012
Disproportionate anterocollis is a debilitating condition which occurs in the later stages of parkinsonian syndromes and for which there is no effective therapy. Multiple hypotheses have been proposed to explain its underlying etiology, including myopathy of the cervical extensors, and dystonia of the cervical flexors. We examined the records of ...
Greene Deanna J - - 2011
In a recent American Journal of Psychiatry article, Wang and colleagues used functional MRI (fMRI) to examine cortico-striatal-thalamo-cortical circuitry in Tourette syndrome (TS), advancing the field's investigation of circuit level dysfunction in vivo in individuals with TS. Their results provide insight for interrogating neural mechanisms underlying different treatment methods.
Miyoshi Fumito - - 2011
This report describes a case of a patient with long QT syndrome (LQTS) with recurrent episodes of torsades de pointes (TdP). Use of biventricular pacing (BiVP) resulted in a shorter QT interval and a shorter T-peak-end interval and prevented further episodes of TdP. These findings suggest that BiVP may be ...
Kim Hui Kwon - - 2011
Hutchinson-Gilford progeria syndrome (HGPS) is a rare condition originally described by Hutchinson in 1886. Death result from cardiac complications in the majority of cases and usually occurs at average age of thirteen years. A 4-yr old boy had typical clinical findings such as short stature, craniofacial disproportion, alopecia, prominent scalp ...
Hsieh Chih-Wei - - 2011
  SCALP syndrome is an acronym describing the coincidence of sebaceous nevus syndrome, central nervous system malformations, aplasia cutis congenita, limbal dermoid, and pigmented nevus (giant congenital melanocytic nevus). We present a fourth case of this syndrome.
Sanmann Jennifer N - - 2011
Methyl-CpG binding protein 2 gene (MECP2) testing is indicated for patients with numerous clinical presentations, including Rett syndrome (classic and atypical), unexplained neonatal encephalopathy, Angelman syndrome, nonspecific mental retardation, autism (females), and an X-linked family history of developmental delay. Because of this complexity, a gender-specific approach for comprehensive MECP2 gene ...
Kim Hyeon Chang - - 2011
Reports of the prevalence of and trends in metabolic syndrome in Korea have been inconsistent. Thus, we investigated the reasons underlying these inconsistencies. We estimated the prevalence of metabolic syndrome using different diagnostic criteria, exclusion criteria, and sampling weights among 5,509 respondents, aged 20-79, who participated in the 2001 Korean ...
Miller Gregory E - - 2011
Children raised in families with low socioeconomic status (SES) go on to have high rates of chronic illness in adulthood. However, a sizable minority of low-SES children remain healthy across the life course, which raises questions about the factors associated with, and potentially responsible for, such resilience. Using a sample ...
Brosens Lodewijk Aa - - 2011
Juvenile polyposis syndrome is a rare autosomal dominant syndrome characterized by multiple distinct juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer. The cumulative life-time risk of colorectal cancer is 39% and the relative risk is 34. Juvenile polyps have a distinctive histology characterized by an ...
Bosley Thomas M - - 2011
Carbonic anhydrase type II deficiency syndrome is an uncommon autosomal recessive disease with cardinal features including osteopetrosis, renal tubular acidosis and brain calcifications. We describe the neurological, neuro-ophthalmological and neuroradiological features of 23 individuals (10 males, 13 females; ages at final examination 2-29 years) from 10 unrelated consanguineous families with ...
Wouters Eveline Jm - - 2011
BACKGROUND: Fatigue is a prevalent and debilitating problem in Sjögren's syndrome. It has been suggested that physical activity and cognitions about physical activity can influence fatigue.OBJECTIVE: The aim of this study was to examine fatigue and physical activity levels in patients with Sjögren's syndrome and the associations of physical activity ...
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