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Berry-Kravis Elizabeth M - - 2012
Research on animal models of fragile X syndrome suggests that STX209, a γ-aminobutyric acid type B (GABA(B)) agonist, might improve neurobehavioral function in affected patients. We evaluated whether STX209 improves behavioral symptoms of fragile X syndrome in a randomized, double-blind, placebo-controlled crossover study in 63 subjects (55 male), ages 6 ...
Shimada Shino - - 2012
BACKGROUND: Duplications involving the methyl-CpG-binding protein 2 gene (MECP2) locus at Xq28 have been frequently identified in male patients who exhibit a phenotype unique from that of Rett syndrome, which is mainly characterized by severe mental retardation, recurrent infections, and epilepsy. This combination of features is recognized as MECP2 duplication ...
Sekaran Prabhu - - 2012
We describe a male infant presenting in the neonatal period with bowel obstruction who had features of anal stenosis, a presacral teratoma, and a sacral anomaly consistent with Currarino's syndrome. Initial management involved a defunctioning colostomy followed by a posterior sagittal excision of the teratoma and repair of the anorectal ...
Baek Jong Uk - - 2012
BACKGROUND: Turner syndrome is due to the absence of all or significant parts of one of the sex chromosomes in females. Turner syndrome is a common cause of ovarian failure, and hypergonadotropic hypogonadism occurs in virtually all affected individuals. One case of a variant Turner syndrome with precocious puberty is ...
Mendoza Nicolás - - 2012
Androgen insensitivity syndrome (AIS) is a disorder caused by a mutation of the gene encoding the androgen receptor (AR; Xq11-q12). The prevalence of AIS has been estimated to be one case in every 20,000 to 64,000 newborn males for the complete syndrome (CAIS), and the prevalence is unknown for the ...
Huang Ying - - 2012
A 26-year-old right-handed female presented with alien hand syndrome (AHS) secondary to corpus callosum (CC) hematoma. The patient had abnormal feelings in the left upper limb and exhibited intermanual conflict. Imaging studies demonstrated acute hemorrhage in the genu and body of the CC secondary to cerebral venous malformation. Callosal hemorrhage ...
Aminimoghaddam S - - 2012
Swyer syndrome is a type of pure gonadal dysgenesis correlating with 46 XY karyotype, primary amenorrhea, and female internal and external genitalia. It reveals a testicular differentiation abnormality.A 16-year old girl admitted to our center with primary amenorrhea and abdominal mass. In spite of the absence of normal testis, clitoromegaly ...
Uyar Meral - - 2012
PURPOSE: The aim of this study is to compare metabolic syndrome with syndrome Z growing epidemic in terms of risk factors, demographic variables, and gender differences in our large cohort at southeastern area in Turkey. METHODS: Data of patients admitted to sleep clinic in University of Gaziantep from January 2006 ...
Hughes Ieuan A IA Department of Paediatrics, University of Cambridge, Cambridge, UK. - - 2012
Androgen insensitivity syndrome in its complete form is a disorder of hormone resistance characterised by a female phenotype in an individual with an XY karyotype and testes producing age-appropriate normal concentrations of androgens. Pathogenesis is the result of mutations in the X-linked androgen receptor gene, which encodes for the ligand-activated ...
Han Byoung Hee - - 2012
We report the case of a female neonate with ipsilateral renal agenesis and uterus didelphys with blind hemivagina, also known as Herlyn-Werner-Wunderlich (HWW) syndrome. Prenatal sonography revealed the absence of the left kidney and a retrovesical cystic lesion suspected as hydrometrocolpos. Postnatal evaluation confirmed that the cystic lesion was a ...
D'Alessandro G - - 2012
The 47,XXY syndrome, or Klinefelter syndrome, though it is a rare occurrence, it is the most common sex choromosome disorder affecting male subjects. This syndrome is underdiagnosed and seldomly before puberty. In this case, diagnosis was made before birth, through chorion villus sampling. A 16 month-old Italian male with 47 ...
Burghardt Kyle J - - 2012
In schizophrenia, metabolic syndrome incidence is double that of the general population, with women having a higher incidence. Pharmacogenetically regulated folic acid may be related to this risk. DNA methylation and metabolic syndrome within this group has not been previously studied. Metabolic syndrome was evaluated with fasting laboratory measurements, and ...
- - 2012
Tumors originating from ectopic adrenal tissue are relatively rare. In this article, we describe a case with Cushing's syndrome caused by an ectopic adrenal adenoma. A 38 year-old male patient presenting with cushingoid appearance for 2 years was diagnosed to have ACTH-independent Cushing's syndrome based on endocrinological evaluation. Mutiple radiological ...
Sinikumpu Juha-Jaakko - - 2012
Compartment syndrome is a surgical emergency that usually occurs as a sequel to high-energy trauma. We report an uncommon presentation of atraumatic compartment syndrome of the right foot involving the abductor hallucis muscle. A 15-year-old female presented with pain and mild swelling of the right foot after taking part in ...
Kang Do-Yoon - - 2012
Ictal asystole is potentially lethal, and known to originate from the involvement of limbic autonomic regions. Appropriate treatment must include an antiepileptic drug and the implantation of a pacemaker. We report the case of a 54-year-old male with recurrent syncope secondary to ictal asystole triggered by temporal lobe epilepsy. This ...
Tsurusaki Y - - 2013
Oral-facial-digital syndrome type 1 (OFD1; OMIM #311200) is an X-linked dominant disorder, caused by heterozygous mutations in the OFD1 gene and characterized by facial anomalies, abnormalities in oral tissues, digits, brain, and kidney; and male lethality in the first or second trimester pregnancy. We encountered a family with three affected ...
Reeser Jonathan C - - 2012
ObjectiveInfraspinatus syndrome (IS) results from injury to the suprascapular nerve. For reasons that are poorly understood, volleyball players are at greater risk of developing IS than are athletes who compete in other overhead sports. Differences between the shoulder kinematics of volleyball-related overhead skills and those skills demanded by other overhead ...
Dulícek Petr - - 2012
Purple toe syndrome is a rare complication of warfarin therapy. It occurs usually after 3 to 8 weeks of therapy and it is caused by cholesterol emboli from atheromatous plaque. Sudden onset of pain in affected area, typically in toes and feet, is the main characteristic of the syndrome. We ...
Tonni Gabriele G Department of Obstetrics & Gynceology, Guastalla General Hospital, AUSL Reggio Emilia, Italy. - - 2013
Prune-belly syndrome (PBS) is a rare congenital syndrome characterized by deficient abdominal muscles, urinary tract malformation, and in males, cryptorchidism and has an estimated incidence of 1 in 35,000 to 1 in 50,000 live births. The syndrome might be due to severe bladder outlet obstruction or to abdominal muscle deficiency ...
Patsalis Philippos C - - 2012
Non-invasive prenatal diagnosis (NIPD) of Down syndrome is rapidly evolving. Currently, two applications for NIPD of Down syndrome have been developed with potential and have displayed positive results; the NIPD using next-generation sequencing technologies and the NIPD using the methylated DNA immunoprecipitation (MeDIP) real-time quantitative polymerase chain reaction (qPCR). The ...
Lai H Henry HH Division of Urologic Surgery, Department of Medicine, Washington University School of Medicine, St. Louis, Missouri 63110, USA. - - 2012
Somatization disorder has been described in several comorbid functional syndromes of urological chronic pelvic pain syndrome, such as irritable bowel syndrome. We investigated whether a subset of patients with urological chronic pelvic pain syndrome may have the polysymptomatic, polysyndromic presentation pattern that is common in somatization disorder. A total of ...
Moreira-Pinto João - - 2012
We present the extremely rare case of a male newborn with Beckwith-Wiedemann Syndrome (BWS) presenting as delayed abdominal wall closure and neonatal intussusception. Fetal ultrasound had shown omphalocele that resolved spontaneously. When feeding was attempted, he had various episodes of vomiting. An x-ray showed signs of high bowel obstruction. Jejunal ...
Juhn Alexander T - - 2012
Klinefelter syndrome is caused by the presence of one or more additional X chromosomes in an affected male. Patients often exhibit gynecomastia, small testes, and infertility. Though the characteristics of Klinefelter have been well-documented, associated ocular abnormalities have been only occasionally reported. Here we present a 2-month-old infant with Klinefelter ...
Nowak Mareike - - 2012
Sandifer's syndrome is a rare, probably underdiagnosed, and usually pediatric movement disorder associated with gastroesophageal reflux disease. Often, it is misdiagnosed as epilepsy or paroxysmal dyskinesia. We report the case of an adult female with Sandifer's syndrome initially diagnosed as focal epilepsy and treated inefficiently with anticonvulsants for two years.
Rosqvist Hanna Bertilsdotter - - 2012
Abstract This study explores the production of a counterhegemonic discourse of "autistic normalcy" among adults with high-functioning autism by analyzing notions of diagnosis. The discourse analyses are based on material from ethnographic fieldwork in a Swedish educational setting. Study participants were 3 male and 9 female adults who had been ...
Stancliffe Roger J - - 2012
Abstract This study describes service users with Down syndrome (N  =  1,199) and a comparative sample with intellectual and developmental disabilities but not Down syndrome (N  =  11,182), drawn from National Core Indicator surveys of adult service users in 25 U.S. states. Individuals with Down syndrome were younger than were ...
Mandava Anitha - - 2012
Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA), or Herlyn-Werner-Wunderlich syndrome, is a rare Mullerian duct anomaly with uterus didelphys, unilateral obstructed hemivagina, and ipsilateral renal agenesis. Patients with this anomaly usually present after menarche with pelvic pain and/or a mass and rarely, in later years, with primary infertility. Strong suspicion ...
Kwok-Oleksy Christina - - 2012
Solid mass tumors are not as common as leukemia in individuals with Down syndrome. In this report, we describe the rare case of an adult Hispanic male with Down syndrome who developed advanced subungual melanoma in the hallux. We also describe the course of treatment, which involved hallux amputation along ...
Morris Joan K - - 2012
This study describes the characteristics of karyotypes leading to phenotypic Down syndrome (trisomy 21) in 29,256 cases diagnosed between 1989 and 2009 in England and Wales included in the National Down Syndrome Cytogenetic Register (NDSCR). The frequency of occurrence of the different karyotypes, proportions diagnosed prenatally, sex ratios, mean maternal ...
Kulkarni Kaushal M - - 2012
A 64-year-old female presented with ptosis, ophthalmoplegia, ataxia, and weakness. She was diagnosed with Miller Fisher syndrome (MFS) and was treated with plasmapheresis. Six months later, she developed bilateral oculomotor synkinesis, suggesting aberrant regeneration. The pathogenesis of MFS is reviewed in light of this unusual finding.
Verchere Sherien - - 2012
A 14 month old, 19 kg female infant with aminotic band syndrome and severe craniofacial malformations presented for placement of an open gastrostomy tube. Spontaneous ventilation was maintained while an "awake look" was performed with the video laryngoscope using intravenous propofol (30 mg total) for sedation. A Grade I Cormack-Lehane ...
Krishna Kavita - - 2012
A 17 year old male presented with seizures, headache, and fever and left chronic suppurative otitis media. A 35 year old male presented with headache, giddiness, vomiting, pain in eyes, diplopia and right chronic suppurative otitis media. Brain imaging in both revealed thrombosis of lateral and sigmoid sinus and also ...
Hegde Shruthi - - 2012
Gorlin-Goltz syndrome is an autosomal dominant disorder principally characterized by cutaneous basal cell carcinomas, multiple keratocystic odontogenic tumors, and skeletal anomalies. This syndrome may be diagnosed early by dentist because keratocystic odontogenic tumors are usually one of the first manifestations of the syndrome. Early diagnosis and treatment are of utmost ...
Bak Chong Won - - 2012
Objectives:  To investigate the characteristics of Klinefelter syndrome in a consecutive series of men consulting for sexual as well as fertility problems in Korea. Methods:  A total of 179 men with non-mosaic 47,XXY Klinefelter syndrome of the 1876 azoospermic males who visited the fertility center of our university hospital between ...
Alvarez P - - 2012
Koro and Cotard syndromes are uncommon conditions described in a variety of psychiatric and medical disorders. The authors report the third case of a simultaneous presentation of both syndromes, in a 62-year-old inpatient Spanish male with major depressive disorder with psychotic features, parkinsonism and cognitive impairment. A discussion of the ...
- - 2012
This analysis examines incidence rates, prevalences, and outpatient encounters for migraine and other headache syndromes among active component members of the U.S. Armed Forces from 1998 through 2010. For both migraine and other headache syndromes, incidence rates, prevalences, and rates of outpatient encounters increased during the period. In 2010, 3.9 ...
Szumiło J - - 2012
A case of accessory spleen located in the tail of the pancreas in a stillbirth male foetus is reported. The congenital anomaly was revealed at autopsy. The intrapancreatic spleen was well demarcated and was composed of red and white pulp; however, same pancreatic ducts were intermingled with the splenic parenchyma. ...
Myong Jun-Pyo - - 2012
Occupation can influence the prevalence of metabolic syndrome. Age and gender could interact with the association between occupation and metabolic syndrome. This study aimed to investigate the prevalence of metabolic syndrome among the Korean working population and determine whether the prevalence differed according to occupation, age and gender. We conducted ...
Patacchiola Felice - - 2012
The 49, XXXXY syndrome is a rare sex chromosome polysomy, first described by Fraccaro and colleagues in 1960. The approximate incidence of this disorder is 1 in 85,000 male births. To date, >100 cases had been published in the literature. Patients with 49, XXXXY syndrome show some peculiar clinical features, ...
Jaiman Sunil - - 2012
Pallister-Hall syndrome (PHS) is a pleiotropic autosomal-dominant malformation syndrome rarely presenting with genitourinary malformations. Literature has recorded 14 cases of PHS with genitourinary findings out of which only six have been females presenting with hydrometrocolpos and/or vaginal atresia. Fetal autopsy findings on a 39 weeks' gestation including demonstration of corticotroph ...
Khuc Kim - - 2012
Background. Prevalence of the metabolic syndrome is increasing in pediatric age groups worldwide. Meeting the criteria for the metabolic syndrome puts children at risk for later cardiovascular and metabolic disease. Methods. Using linear regression, we examined the association between infant weight gain from birth to 3 months and risk for ...
Taha Aza A M - - 2012
A 47-year-old male smoker admitted complaining of progressive bilateral lower-limb and upper-limb weakness, without any numbness. He also complained of productive cough and fever for the last 2 weeks before admission. There were no nasal symptoms, sore throat, night sweats, loss of appetite and weight, nor did he have any ...
Cerquozzi Sonia - - 2012
Iliac vein compression syndrome is a condition involving external compression of the left common iliac vein by the right iliac artery, which was first described in the 1850s. It predominates in females typically between the third and fourth decade of life and has been associated with thrombophilias. Importantly, the syndrome ...
Sa Eduardo Costa - - 2012
The aims of this study were to investigate work conditions, to estimate the prevalence and to describe risk factors associated with Computer Vision Syndrome among two call centers� operators in São Paulo (n = 476). The methods include a quantitative cross-sectional observational study and an ergonomic work analysis, using work ...
Naveen Kn - - 2012
A case of Stevens-Johnson syndrome following treatment with sodium valproate is presented here. A 20-year-old male was put on sodium valproate monotherapy for the migraine, with generalized epilepsy. He developed vesicles and bullae in the oral and nasal mucosa with conjunctivitis, after 10 days of treatment. The lesions resolved after ...
Kumar Manoj M Department of Radiodiagnosis and Imaging, Chhatrapati Shahuji Maharaj Medical University, Lucknow, Uttarpradesh, India. - - 2012
Di Sala syndrome or fetal warfarin syndrome/fetal warfarin embryopathy is a rare condition as result of fetal exposure due to maternal ingestion of warfarin during pregnancy. The authors report here a male infant with this condition whose mother was suffering from rheumatic mitral valvular heart disease for which she underwent ...
Altieri Pablo I - - 2011
The metabolic syndrome is probably one of the main medical problems in developing countries. Purpose of this investigation was to study the metabolic syndrome at the Puerto Rico and Caribbean Cardiovascular Center with emphasis on the cardiovascular complications. The medical charts in the last six years of the metabolic syndrome ...
Ashraf Tariq - - 2011
To evaluate the frequency of metabolic syndrome in patients with Ischaemic Heart Disease. This was a cross sectional observational study. Patients with a first time cardiac event arriving in emergency room during the period October 2009 to April 2010, were included. Five components of Metabolic syndrome were defined according to ...
Olson J Casey - - 2011
Thoracic insufficiency syndrome represents a novel form of postnatal restrictive respiratory disease occurring in children with early-onset scoliosis and chest wall anomalies. Expansion thoracoplasty improves lung volumes in children with thoracic insufficiency syndrome; however, how it affects lung development is unknown. Using a rabbit model of thoracic insufficiency syndrome, we ...
Nadjar Yann - - 2011
BACKGROUND: Although it is recommended that interferon-beta (IFNβ) injections be administered in the evening, it is possible that morning injections could more effectively decrease interleukin 6 secretion. METHODS: This study evaluated the effects of switching from an evening injection of IFNβ to a morning injection on the intensity of flu-like ...
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