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Al-Beladi Fatma I - - 2012
Antiphospholipid syndrome is characterized by the presence of antiphospholipid antibodies with characteristic clinical manifestation, which include venous, arterial thrombosis, thrombotic microangiopathy, and recurrent fetal loss. The syndrome can be secondary to many causes including systemic lupus erythematosus (SLE) or "primary" antiphospholipid syndrome (APLS). We report a case of a man ...
Leehey Maureen A - - 2012
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an under-recognized disorder that is a significant cause of late-adult-onset ataxia. The etiology is expansion of a trinucleotide repeat to the premutation range (55-200 CGG repeats) in the fragile X mental retardation 1 (FMR1) gene. Expansion to >200 CGGs causes fragile X syndrome, the ...
Holló Gábor - - 2012
Purpose. To present a case with co-existence of Cogan-Reese syndrome and exfoliation syndrome. Case report. A 72-year-old Caucasian woman presented for consultation due to uncontrolled intraocular pressure (IOP) of the right eye. Clinical examination revealed the presence of Cogan-Reese syndrome and exfoliation syndrome OD. This eye exhibited elevated IOP, open ...
Jara Lj - - 2012
In recent years, four conditions, siliconosis, Gulf War syndrome (GWS), macrophagic myofasciitis syndrome (MMF) and post-vaccination phenomena, were linked to a previous exposure to an adjuvant, suggesting a common denominator, and it has been proposed to incorporate comparable conditions under a common syndrome entitled Autoimmune/inflammatory Syndrome Induced by Adjuvants (ASIA). ...
Leroith Derek - - 2012
ABSTRACT:: The worldwide obesity epidemic has brought to the author's attention the cardiometabolic risk factors and cardiovascular disease associated with the metabolic syndrome. The emphasis on diagnosing and treating the individual risk factors should help in the prevention of the cardiovascular disease associated with obesity, the metabolic syndrome and type ...
Akhtar Farah - - 2012
A 16 years old male patient of Sturge-Weber syndrome was referred to glaucoma clinic for the management of unilateral glaucoma. There was also an ipsilateral hypermetropic shift. On detailed investigations, a diffuse choroidal haemangioma was diagnosed which induced this hypermetropic shift. Anisometropia in Sturge-Weber syndrome can give us clue regarding ...
Afshar Reza - - 2012
Multiple endocrine neoplasia (MEN) is a group of heritable syndromes characterized by aberrant growth of benign or malignant tumors in a subset of endocrine tissues. There are three major syndromes: MEN1, 2A and 2B. We describe a 60-year-old woman who initially manifested acute renal failure due to hypercalcemia and dehydration ...
Alenzi Faris Q - - 2012
Goodpasture syndrome, a rare human autoimmune disorder, is characterized by the presence of pathogenic autoantibodies that react with the components of the glomerular basement membrane. The clinical condition of the Goodpasture syndrome is characterized by an acute necrotizing glomerulonephritis, often with accompanying pulmonary hemorrhage. Notably, the Goodpasture antigen has been ...
Eliahou Ruth - - 2012
Vascular compression syndromes are caused by the entrapment of vessels between rigid or semirigid surfaces in a confined anatomic space. Chronic entrapment may lead to arterial ischemia and embolism, venous stasis and thrombosis, and hematuria. These syndromes are usually seen in otherwise healthy young patients, among whom underdiagnosis is common. ...
Kalil Kotb Abbass Metwalley - - 2012
Hutchinson-Gilford progeria syndrome is a rare genetic disorder. It is reported to be present in one in eight million and is characterized by severe growth failure, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, early atherosclerosis and facial features that resemble those of an aged person. Apart from ...
Estraviz Begoña - - 2012
We report an unusual case of a 25-year-old man affected by several vascular entrapment abdominal processes: celiac axis compression or Dunbar syndrome, superior mesenteric artery syndrome or Wilkie's disease and Nutcracker syndrome implying compression of the left renal vein. We discuss the diagnosis that was established by contrast-enhanced spiral computed ...
Lao Xiang Qian - - 2012
The metabolic syndrome has been shown to increase the incidence of cardiovascular disease. Little information exists on the prevalence of the metabolic syndrome for southern Chinese. We therefore investigate the prevalence of the metabolic syndrome in a southern Chinese population with 85 million residents. The Guangdong Nutrition and Health Survey ...
Bawany Muhammad Z - - 2012
Caroli's syndrome is characterized by bile duct ectasia in association with hepatic fibrosis. It is usually transmitted in an autosomal recessive fashion and has been well documented to be associated with autosomal recessive polycystic kidney disease and occasionally with autosomal dominant polycystic kidney disease. However, there has been only few ...
Mieliauskaite Diana - - 2012
The main purpose of this study was to determine the expression of interleukins-17/-23 (ILs-17/-23) and receptors of interleukins-17/-23 (IL-17R, IL-23R) in minor salivary glands (MSGs) of patients with primary Sjögren's syndrome (pSS). Expression of IL-17, IL-23 and receptors of IL-17/-23 was analyzed in MSGs from 25 patients with pSS, 25 ...
Smith Leann E - - 2012
The present study explored the behavioral profile of individuals with fragile X syndrome during adolescence and adulthood. Individuals with both fragile X syndrome and autism (n  =  30) were compared with (a) individuals diagnosed with fragile X syndrome (but not autism; n  =  106) and (b) individuals diagnosed with autism ...
Cankaya Abdulkadir Burak - - 2012
Gardner's Syndrome is a variant of familial adenomatosis polyposis (FAP) with a triad consisting of polyps of the colon, multiple osteomas and surface tumors of soft and hard tissue. The intestinal polyps have a %100 risk of undergoing malignant transformation, therefore early identification of this disease is very important. There ...
Hulsmans Maarten - - 2012
Visceral obesity is associated with the rising incidence of type 2 diabetes and metabolic syndrome. Low-grade chronic inflammation and oxidative stress synergize in obesity and obesity-induced disorders. We searched a cluster of molecules that support interactions between these stress conditions in monocytes. RNA expressions in blood monocytes of two independent ...
Zhao Pan - - 2012
: Up to now, few data are available regarding the clinical characteristics of autoimmune hepatitis and primary biliary cirrhosis overlap syndrome. The study was to investigate and analyze the prevalent and clinical features of Chinese patients with this disease. Clinical data on patients diagnosed as autoimmune hepatitis and primary biliary ...
Zhang Li - - 2012
Human trisomy 21 is the most frequent live-born human aneuploidy and causes a constellation of disease phenotypes classified as Down syndrome, which include heart defects, myeloproliferative disorder, cognitive disabilities and Alzheimer-type neurodegeneration. Because these phenotypes are associated with an extra copy of a human chromosome, the genetic analysis of Down ...
Lieber Daniel S - - 2012
Mitochondrial diseases comprise a diverse set of clinical disorders that affect multiple organ systems with varying severity and age of onset. Due to their clinical and genetic heterogeneity, these diseases are difficult to diagnose. We have developed a targeted exome sequencing approach to improve our ability to properly diagnose mitochondrial ...
Magoulas Pilar L - - 2012
Chromosome 15q24 microdeletion syndrome is a recently described rare microdeletion syndrome that has been reported in 19 individuals. It is characterized by growth retardation, intellectual disability, and distinct facial features including long face with high anterior hairline, hypertelorism, epicanthal folds, downslanting palpebral fissures, sparse and broad medial eyebrows, broad and/or ...
Diamantopoulos Panagiotis T - - 2012
Myelodysplastic syndromes (MDS) are often accompanied by autoimmune phenomena. The underlying mechanisms for these associations remain uncertain, although T cell activation seems to be important. Human T-lymphotropic virus (HTLV-1) has been detected in patients with myelodysplastic syndromes, mostly in regions of the world which are endemic for the virus, and ...
Hady Hady Razak - - 2012
Popularity of laparoscopic sleeve gastrectomy (LSG) has been growing gradually. The aim of this study was to determine changes in metabolic syndrome parameters as well as insulin, total cholesterol, and LDL cholesterol, and to describe the influence of body weight loss on co-morbidities in obese patients after LSG with 1-year ...
Iliff Benjamin W - - 2012
To investigate the cause of the syndrome characterized by endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (EDICT). Previously a multigenerational family was reported that comprised 10 individuals affected by syndromal anterior segment dysgenesis. Blood samples were re-collected from eight affected and two unaffected individuals, and genomic DNA was ...
Jung Hyun Gul - - 2012
Trichloroethylene is commonly used as an industrial solvent and degreasing agent. The clinical features of acute and chronic intoxication with trichloroethylene are well-known and have been described in many reports, but hypersensitivity syndrome caused by trichloroethylene is rarely encountered. For managing patients with trichloroethylene hypersensitivity syndrome, avoiding trichloroethylene and initiating ...
Davidoff Amy J - - 2012
Patient and physician characteristics associated with use of erythropoiesis-stimulating agents in myelodysplastic syndrome patients have not yet been described. Myelodysplastic syndrome patients diagnosed from 2001 to 2005 were identified from the Surveillance Epidemiology and End Results-Medicare database. Multivariate regressions examined the association between patient and physician characteristics and the probability ...
García Patricia J - - 2012
Sexually Transmitted diseases (STD) syndrome management has been one cornerstone of STD treatment. Persons with STD symptoms in many countries, especially those with limited resources, often initially seek care in pharmacies. The objective of the study was to develop and evaluate an integrated network of physicians, midwives and pharmacy workers ...
Ito Yukiko Y Department of Endocrinology and Diabetes, Nagoya Ekisaikai Hospital, - - 2012
A 47-year-old woman presented with hypokalemia (2.4 mmol/L). She also had hypomagnesemia, hypocalciuria, and hyperreninemic hyperaldosteronism. Sequence analysis revealed a compound heterozygous mutation, R655C and R955Q, in the SLC12A3 gene. These findings were compatible with Gitelman's syndrome (GS). Eplerenone, a selective aldosterone blocker, in combination with oral potassium chloride improved ...
Murray Jennie E JE South-east Scotland Clinical Genetics Services Western General Hospital, Edinburgh, UK. - - 2012
Cornelia de Lange Syndrome (CdLS) is a multisystem disorder with a live birth prevalence of approximately one per 15 000. Clinical diagnosis is based on a characteristic facies – low frontal hair line, short nose, triangular nasal tip, crescent shaped mouth, upturned nose, and arched eyebrows – characteristic limb defects ...
Poretti Andrea A Department of Pediatric Neurology, University Children's Hospital of Zurich, - - 2012
Oral-Facial-Digital Syndrome type VI (OFD VI) represents a rare phenotypic subtype of Joubert syndrome and related disorders (JSRD). In the original report polydactyly, oral findings, intellectual disability, and absence of the cerebellar vermis at post-mortem characterized the syndrome. Subsequently, the molar tooth sign (MTS) has been found in patients with ...
Kumar Dipti D Department of Pediatrics, Lady Hardinge Medical College and Kalawati Saran Children's Hospital, New Delhi, - - 2012
Hemolytic anemia usually gives rise to only a modest elevation of serum bilirubin. Unconjugated hyperbilirubinemia of an extreme degree should raise suspicion of additional factors. We describe a 10-year-old child suffering from hereditary spherocytosis, who had unusually high levels of unconjugated serum bilirubin and was diagnosed to have Gilbert syndrome ...
Canna Scott W SW The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, - - 2012
The deadly macrophage activation syndrome (MAS) constitutes one of the few rheumatologic emergencies. MAS is part of a larger group of diseases referred to as hemophagocytic syndromes that are seen in infections, malignancies, or genetic immunodeficiencies. Because of the clinical similarity of these diseases, many clinicians are tempted to approach ...
McDuffie Andrea A University of Wisconsin-Madison, - - 2012
Abstract The authors examined receptive and expressive language profiles for a group of verbal male children and adolescents who had fragile X syndrome along with varying degrees of autism symptoms. A categorical approach for assigning autism diagnostic classification, based on the combined use of the Autism Diagnostic Interview-Revised and the ...
Warren Stephen M SM The Institute of Reconstructive Plastic Surgery, New York University Langone Medical Center, New York, NY 10016, - - 2012
Patients with syndromic craniosynostosis and midface hypoplasia are often treated with Le Fort III advancement. The authors present four patients with extraordinarily long-term follow-up (in excess of 20 years). An institutional review board-approved retrospective chart review was performed on all patients with syndromic craniofacial synostosis who underwent Le Fort III ...
Murer Martin M Division of Internal Medicine, University Hospital Zurich, Switzerland. - - 2012
Physical activity improves the clinical course of the metabolic syndrome and its risk factors. The aim of this study was to investigate the physical activity behaviour in patients with metabolic syndrome in regard to the recommendation of the Federal Offices of Public Health (BAG) and Sports (BASPO): "to exercise half ...
Juodelė Linas - - 2011
Multiple endocrine neoplasia type 1 (MEN 1) is a rare syndrome inherited in an autosomal dominant pattern, characterized by combinations of tumors of the parathyroid glands, pituitary gland, and pancreatic islet cells and more rare tumors of endocrine organs and nonendocrine tissues. Germline mutations in the MEN1 gene are responsible ...
Mammen Cherry - - 2011
We report a 5-year-old boy with thiazide-resistant Bartter syndrome. This is highly unusual since thiazide hypersensitivity is a common diagnostic finding in Bartter syndrome patients. Subsequent molecular testing identified compound heterozygosity for two novel mutations in KCNJ1, (c.556A > G and c.683G > A) which is associated with Bartter syndrome, and a paternally inherited ...
Ramirez Irene Barinaga-Rementeria - - 2012
Lowe syndrome, which is characterized by defects in the central nervous system, eyes and kidneys, is caused by mutation of the phosphoinositide 5-phosphatase OCRL1. The mechanisms by which loss of OCRL1 leads to the phenotypic manifestations of Lowe syndrome are currently unclear, in part, owing to the lack of an ...
Narazaki Ryo - - 2011
BACKGROUND: Linear nevus sebaceous syndrome (LNSS) is a rare congenital neuroectodermal disorder characterized by involvement of the skeleton and central nervous system. CASE: We report the case of a 5-year-old girl who had LNSS with hypophosphatemic rickets and multiple fractures of her extremities. Biochemical tests revealed a high serum level ...
Lankisch Petra - - 2012
Up to 50% of patients with severe immune deficiency experience an excessive inflammatory response called immune reconstitution inflammatory syndrome (IRIS) after the initiation of antiretroviral therapy (ART). IRIS has been observed after various opportunistic infections with pathogens such as mycobacteria, including Bacille Calmette-Guérin, cryptococci, human herpesvirus-8, non-Hodgkin's lymphoma, and progressive ...
Hong Soyoung - - 2011
This study examines the relationship between adherence to different dietary patterns and the presence of metabolic syndrome and its components among Korean adults. The sample consisted of 406 Korean adults aged 22 to 78 years recruited from hospitals. Metabolic syndrome was defined according to the criteria issued by the Adult ...
Baş Veysel Nijat - - 2011
Iatrogenic Cushing syndrome may occur as an undesirable outcome of high-dose glucocorticoids treatments. This may also cause hypothalamus-hypophysis-adrenal axis suppression. While this situation may be caused more frequently with oral and topical glucocorticoid therapy, iatrogenic Cushing syndrome in childhood, caused by steroid-containing nasal drops, is a rare event. Hereby, we ...
Singh Sharon A - - 2011
Shwachman Diamond syndrome (SDS) is a rare inherited bone marrow failure syndrome (IBMFS) characterized by neutropenia, exocrine pancreatic dysfunction, and cancer predisposition. Patients are at risk for myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML) but, unlike other IBMFS, there have been no reported cases of solid tumors. We report ...
Binbay Murat - - 2011
The components of metabolic syndrome, such as obesity, hypertension, and diabetes, are thought to be associated with urolithiasis. However, there are few large-scale studies that have examined the association between metabolic syndrome and urolithiasis, which prompted us to study and evaluate the relationship between metabolic syndrome components and urolithiasis in ...
Dall'oca C - - 2011
Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder with exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities. Patients frequently present failure to thrive, susceptibility to infections and short stature. A persistent or intermittent neutropenia occurs in 88-100% of patients. Bone marrow biopsy usually reveals a hypoplastic specimen with ...
Hamilton Amy - - 2011
OBJECTIVE: Describe the experience that girls with Rett syndrome have with menstruation including menstrual hygiene, dysmenorrhea, premenstrual syndrome (PMS), and attempts at treatment. DESIGN: Anonymous web-based survey. SETTING: Convenience sample recruited from Rett syndrome LISTSERV in July of 2009. PARTICIPANTS: Mothers of girls with Rett syndrome between the ages of ...
Beltrán Oscar Dario Gómez - - 2011
The extrinsic compression of the third part of the duodenum as it passes through the aorto-mesenteric angle is known as the superior mesenteric artery syndrome (SMAS). This syndrome is a rare mechanical cause of upper intestinal obstruction, with a reported incidence of between 0.2% and 0.78%. Clinical manifestations of SMAS ...
Cardno Alastair G - - 2012
The nosological status of schizoaffective disorders remains controversial. Twin studies are potentially valuable for investigating relationships between schizoaffective-mania, schizoaffective-depression, and other psychotic syndromes, but no such study has yet been reported. We ascertained 224 probandwise twin pairs [106 monozygotic (MZ), 118 same-sex dizygotic (DZ)], where probands had psychotic or manic ...
Valkenburg A J - - 2011
BACKGROUND: /st>Reports conflict on optimal postoperative analgesic treatment in children with intellectual disability. We retrospectively compared postoperative analgesics consumption between neonates with and without Down's syndrome in relation to anaesthesia requirements and pain scores. METHODS: /st>We analysed hypnotic and analgesic drug administration, pain scores [COMFORT-Behaviour (COMFORT-B) scale], and duration of ...
Hassett S - - 2011
The majority of paediatric surgeons will encounter a patient with prune belly syndrome (PBS) only a few times in their clinical practice. There have been many opposing views in the literature regarding the pathogenesis and management of this complex condition. A detailed review was conducted using PubMed to identify key ...
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