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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 ...
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 ...
Israeli E - - 2012
Gulf War syndrome (GWS) is a multi-symptom condition comprising a variety of signs and symptoms described in the literature, which not been fully resolved. The various symptoms of the condition include muscle fatigue and tiredness, malaise, myalgia, impaired cognition, ataxia, diarrhoea, bladder dysfunction, sweating disturbances, headaches, fever, arthralgia, skin rashes, ...
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 ...
Karimi Mehran - - 2012
Nicolau Syndrome (NS) is a rare but severe localized adverse reaction at the site of intramuscular drug injection. The typical presentation is intense pain around the injection site soon after injection, followed by erythema, purplish network discolouration of the skin, haemorrhagic patch, and finally tissue necrosis. Here in, we report ...
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 ...
Ushiki Atsuhito - - 2012
Superior mesenteric artery syndrome is a rare cause of upper intestinal obstruction resulting from compression of the duodenum by the superior mesenteric artery and abdominal aorta. We describe a case of superior mesenteric artery syndrome in a 61-year-old Japanese man with non-small cell lung cancer who had been treated with ...
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 ...
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 ...
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). ...
Brown W Ted - - 2012
Fragile X syndrome patients express a wide array of cognitive and other gender-specific phenotypic features. These manifestations result not only from molecular mechanisms that are altered as a result of the expansion of a CGG-repeat region in the FMR1 promoter, but also genetic factors such as founder effects and mosaicism. ...
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 ...
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 ...
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 ...
Awad Atif B - - 2012
The metabolic syndrome develops in an individual with any three of the following risk factors: obesity, diabetes, inflammation, hypertension, dyslipidemia, and thrombosis. Recent evidence suggests that vitamin D may play a role in the development of some of these risk factors. The metabolic syndrome is more common in western societies ...
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 ...
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 ...
Kacem Imen - - 2012
The clinical syndrome of pure akinesia (PA) is considered the third phenotype of progressive supranuclear palsy (PSP), and is characterized by freezing of gait and prominent speech disturbance without rigidity or tremor. It is frequently considered one of the dopamine resistant motor syndromes, and its pathophysiology remains unclear. We report ...
Fujii Kenji - - 2012
We present a case of Churg-Strauss syndrome complicated by chronic periaortitis. A 68-year-old man presented with wheezing, dyspnea, purpurae, and numbness of the extremities. Antineutrophil cytoplasmic antibodies were absent; however, eosinophilia, a pulmonary infiltrative shadow on chest X-ray, eosinophilic vasculitis on histologic examination of skin and kidney, and mononeuritis multiplex ...
Mojallal Ali - - 2012
Poland syndrome is a rare congenital malformation. Hypoplasia of the sternocostal portion of the pectoralis major muscle is the most significant feature and is most frequently associated with homolateral breast hypoplasia. In this article, the authors present a case of bilateral phyllodes tumors in a 28-year-old woman with Poland syndrome ...
Seifarth Federico G - - 2012
Poland syndrome is characterized by hypoplastic unilateral chest wall structures. These chest wall deformities may be associated with upper extremity anomalies. The association of Poland syndrome with either intercostal liver herniation or a spinocerebral deformity has been described, but there is no report of both findings encountered simultaneously. This is ...
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 ...
Gunashekhar Madiraju - - 2012
Rubinstein-Taybi syndrome, or broad thumb-hallux syndrome, is a well-defined rare congenital disorder characterised by postnatal growth deficiency, craniofacial dysmorphism, broad thumbs and great toes, and mental retardation (intellectual disability). Occurrence may be either sporadic or through autosomal dominant inheritance. Reports of Rubinstein-Taybi syndrome are scarce in the literature. This case ...
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 ...
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 ...
Yuan Shi-Min - - 2012
Background: The clinical characteristics and outcomes of hoarseness subsequent to cardiovascular surgery, intervention, maneuver and endotracheal intubation have not been systematically elucidated. Methods: The literature of hoarseness following cardiovascular surgery, intervention, and maneuver and intubation published between 1980 and 2011 was comprehensively retrieved in the MEDLINE database and the Google ...
Glamore Michael - - 2012
"Broken heart" syndrome is a rare phenomenon characterized by transient ballooning of the left ventricle and chronic heart failure, usually presenting in postmenopausal women. It is formally known as acute stress-induced cardiomyopathy and, although described in the cardiology literature, it has not been previously described in plastic surgery patients. It ...
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 ...
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 ...
Pithon Matheus Melo - - 2012
This purpose of this article was to report the clinical case of a patient with Eagle's syndrome. She was referred to the orthodontic clinic by her general clinician, with the complaint of temporomandibular dysfunction. The orthodontic records showed a styloid process elongation accompanied by calcification and fracture on the right ...
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 ...
Tacik Pawel - - 2012
Crossed brainstem syndromes consist of ipsilateral impairment of cranial nerves III-XII and contralateral impairment of the pyramidal and sensory tracts. Gasperini's syndrome, described in 1912 by the Italian internist Ubaldo Gasperini, is one of them. It results from a lesion of the caudal pontine tegmentum and is most frequently defined ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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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