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Schneider Susanne A SA Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University Luebeck, Maria-Goeppert-Str. 1, Luebeck, Germany and Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, Queen Square, London, U.K - - 2009
Dystonia is a hyperkinetic movement disorder defined by involuntary sustained muscle spasms and unusual postures. Etiologically, dystonic syndromes can be broadly divided into primary and secondary forms, dystonia-plus syndromes and heredodegenerative forms. In particular, diagnosis of secondary dystonic syndromes can be challenging in view of the variety of causes. The ...
Arena F - - 2009
Intrathoracic gastric volvulus is extremely rare in the newborn period. The authors describe the case of a newborn with unusual combination of intrathoracic gastric volvulus and Marfan's Syndrome and discuss its management.
Meijer Tineke W H - - 2009
AIMS: Lynch syndrome-associated tumours are characterized by the presence of an increased number of tumour-infiltrating lymphocytes. This enhanced lymphocytic response may be elicited by genetically altered proteins that may arise as a result of a defective DNA mismatch repair system. The aim was to investigate this hypothesis by correlating loss ...
Santin Brian J - - 2009
Diverticular disease of the colon, a common problem among adults, is diagnosed rarely in children. We report an adolescent patient with sigmoid diverticulitis who required operative treatment. Pediatric patients with the complications of diverticula typically have conditions that result in genetic alterations affecting the components of the colonic wall. Our ...
Huang Sherry C - - 2009
Colon polyps are a common finding in pediatrics and can present with rectal bleeding, abdominal pain, or polyp prolapse from the rectum. Histologically classified as hamartomas, these isolated pediatric polyps lack epithelial dysplasia and have no cancer risk. However, when polyps are present in greater numbers, or are associated with ...
Ataoglu Emel - - 2009
Bartter's syndrome (BS) is an inherited renal tubular disorder characterized by hypokalemia, hypochloremic metabolic alkalosis, and hyperaldosteronism with normal blood pressure. A 22-year-old woman was referred at 23 week of gestation. Polyhydramnios was detected and the chloride level of the amniotic fluid was high. The mother was treated with indomethacin ...
Moon Suk-Bae - - 2009
Vasoactive intestinal polypeptide (VIP) is known to cause the watery diarrhea, hypokalemia, and achlorhydria syndrome. A 14-year-old girl was admitted with a 4-year history of persistent uncontrollable diarrhea and hypokalemia. Computed tomographic evaluation of the neck, chest, and abdomen were normal. Numerous polyps covering the entire colon and rectum were ...
Sparr Jennifer A JA Division of Population Sciences, Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, - - 2009
Intraductal papillary mucinous neoplasm (IPMN) of the pancreas is a precancerous lesion with a well-described progression to carcinoma. This case report describes a 61-year-old woman with a history significant for multiple cancers and a confirmed germline mutation of MSH2, a mismatch repair gene responsible for Lynch syndrome, who was also ...
Sheikh-Jabbari M M - - 2008
We show that the Cohen-Glashow very special relativity (VSR) theory [A. G. Cohen and S. L. Glashow, Phys. Rev. Lett. 97, 021601 (2006)] can be realized as the part of the Poincaré symmetry preserved on a noncommutative Moyal plane with lightlike noncommutativity. Moreover, we show that the three subgroups relevant ...
Sarin Sanjay - - 2008
Turcot's syndrome (glioma-polyposis) is a rare hereditary disorder characterized by association of colonic polyposis with primary tumors of the central nervous system. We report a case of a 27-year-old male diagnosed with Turcot's syndrome after an autopsy. The patient survived for more than two decades after his initial presentation with ...
Dunn J J - - 2009
Ehlers Danlos Syndrome (EDS) is a collective term for a number of connective tissue disorders. Vascular rupture and dissection are well-documented sequelae as is gastrointestinal perforation. We present a rare presentation where dissection of the bowel wall presented as a suspected sigmoid colon tumour.
Vorndran Christina M - - 2008
The relation between hair pulling and thumb sucking in a child with Cri du Chat syndrome was evaluated during the assessment and treatment of hair pulling. A functional analysis suggested that both behaviors were maintained by automatic reinforcement and possibly by attention. Treatment combining differential reinforcement (praise), response interruption, and ...
Donkol Ragab H - - 2008
Congenital pouch colon syndrome is partial or complete replacement of the colon by a pouch-like structure and anorectal malformation. Commonly reported from northern India, we believe this is the first report of congenital pouch colon syndrome in a Saudi Arabian neonate. He was referred with an imperforate anus and diagnosed ...
Saranrittichai Surachai - - 2008
The Peutz-Jeghers syndrome (PJS) is characterized by hamartomatous polyposis of the gastro-intestinal (GI) tract, with mucocutaneous pigmentation. We have experienced a case of a 10-year-old girl who presented with PJS, intussusception, colonic perforation and colonic adenocarcinoma. Finally, this case developed airway obstruction from the mediastinal mass. In order to prevent ...
Luo Zhe-Xi - - 2007
Tribosphenic molars of basal marsupials and placentals are a major adaptation, with the protocone (pestle) of the upper molar crushing and grinding in the talonid basin (mortar) on the lower molar. The extinct pseudo-tribosphenic mammals have a reversed tribosphenic molar in which a pseudo-talonid is anterior to the trigonid, to ...
Hubeaux Katelyne - - 2007
PURPOSE: Idiopathic overactive bladder syndrome is a common disorder, especially in women. Of various pathophysiological factors several studies suggest a specific dysfunction of the autonomic nervous system. To verify this hypothesis we compared heart rate variability parameters, which provide an analysis of autonomic function, in women with idiopathic overactive bladder ...
Andersen S H - - 2008
Whereas the generally accepted carcinogenesis pathway of the microsatellite instabile high (MSI-H) colorectal carcinoma (CRC) involves the traditional adenoma in patients with Lynch syndrome, a serrate pathway involving serrate adenomas (SA) and sessile serrate polyps (SSP) characterize the sporadic MSI-H counterpart. Recent studies have, however, challenged such simple one-pathway models, ...
Hurley M D - - 2007
Smog chamber/FTIR techniques were used to study the atmospheric chemistry of the Z and E isomers of CF3CF=CHF, which we refer to as CF3CF=CHF(Z) and CF3CF=CHF(E). The rate constants k(Cl + CF3CF=CHF(Z)) = (4.36 +/- 0.48) x 10-11, k(OH + CF3CF=CHF(Z)) = (1.22 +/- 0.14) x 10-12, and k(O3 + ...
- - 2007
Around 1.5% of adults in Europe and the USA have urge urinary incontinence (involuntary leakage immediately preceded or accompanied by urgency). This is usually due to overactive bladder syndrome (defined as urgency, with or without urge incontinence, and usually with frequency and nocturia), which occurs in around 12% of adults, ...
Kaz Andrew - - 2007
Colorectal cancer (CRC) forms through a series of histologic steps that are accompanied by mutations and epigenetic alterations, which is called the polyp-cancer sequence. The role of epigenetic alterations, such as aberrant DNA methylation, in the polyp-cancer sequence in sporadic CRC and particularly in hereditary colon cancer is not well ...
Nakayama Masaharu - - 2007
Here, we report a case of Cronkhite-Canada syndrome in a patient with schizophrenia. A 64-year-old man, who had been diagnosed as having a schizophrenic disorder at the age of 30, presented with alopecia, atrophic nail changes, hyperpigmentation of the skin, and inflammatory polyposis of the stomach and colon. Endoscopic ultrasonography ...
Topalak Omer - - 2006
Cavernous hemangioma of the colon is a rare cause of gastrointestinal bleeding. These lesions can be encountered as solitary, multiple, or part of a more complex syndrome with cutaneous manifestations. We herein describe a 26-year-old woman with cavernous hemangioma involving the rectosigmoid area. Additional hemangiomas were identified in the pelvic ...
Reverdy David - - 2006
Acute colonic pseudo-obstruction (Ogilvie's syndrome) is characterised by abdominal distension and massive colonic dilatation without any mechanical cause of obstruction. The pathogenesis remains unknown but likely involves imbalance between sympathetic and parasympathetic colon innervation. This syndrome is well known in orthopaedic surgery, as trauma and orthopaedic surgery have been reported ...
Sarin Y K - - 2006
Gastrointestinal duplications are a common type of congenital anomaly usually restricted to one part of the gut. Triplication of colon is a rare variation of duplication of the hindgut. Hindgut duplications are commonly associated with anomalies of other derivatives of the cloaca, namely, the lower genitourinary system. Here, we describe ...
Jones Brad - - 2006
A 65-year-old man presented with a history of multiple skin coloured papules on his face that were asymptomatic. He had an adenocarcinoma resected from his proximal colon 12 years prior to presentation as well as a family history of colon cancer on the maternal side. Diagnostic biopsies showed the lesions ...
Murray Rebecca A F - - 2006
Retroarterial colon is a rare entity in which the colon is located behind the superior mesenteric vessels. Transmesenteric internal hernias result in portions of the bowel protruding through a defect in the mesentery and are often acquired but may be congenital. We report a 10-year-old female with trisomy 13 who ...
Plawski A - - 2007
INTRODUCTION: Attenuated adenomatous polyposis coli (AAPC) is a variant of the familial adenomatous polyposis (FAP) characterized by the occurrence of sparse polyps in the colon, stomach, and duodenum with a late onset of colorectal cancer. The AAPC syndrome is associated with mutations at the 5' region of the APC gene. ...
Abulencia A - - 2006
We searched for scalar bottom quarks 156 pb(-1) of pp collisions at radicalS = 1.96 recorded by the Collider Detector at Fermilab II experiment at the Tevatron. Scalar bottom quarks can be produced from gluino decays in -parity conserving models of supersymmetry when the mass of the gluino exceeds that ...
Al-Shanafey S - - 2006
Colonic duplication is a rare congenital anomaly which presents as a diagnostic and therapeutic challenge. We report a 5-year-old boy with colonic duplication who required multiple hospital admissions, multiple diagnostic tests, and evaluation by various clinical specialists before the diagnosis was made intraoperatively. He was known to have left renal ...
Farajzadeh Saideh - - 2006
A patient with Proteus syndrome presented with lower gastrointestinal bleeding due to multiple colonic hemangiomas, a finding which has not been described previously in this syndrome. The patient was a 20-year-old man with features fulfilling the diagnostic criteria for Proteus syndrome. He fulfilled both general criteria (mosaic distribution of the ...
Deshpande A V - - 2005
Williams Syndrome (WS) is a condition with multisystemic involvement caused by a genetic deletion in chromosome 7. Colonic diverticulosis has been described in adults with WS; however, it has not previously been reported in adolescents with WS. We report an adolescent boy with WS who developed complicated colonic diverticulitis and ...
Fotiadis C - - 2005
Gardner's syndrome is an autosomal dominant disease characterized by the presence of colonic polyposis, osteomas and a multitude of soft tissue tumors. The syndrome may present at any age from 2 mo to 70 years with a variety of symptoms, either colonic or extracolonic. We present a case of a ...
Sobel Jeremy - - 2005
Botulism is a rare disease with 4 naturally occurring syndromes: foodborne botulism is caused by ingestion of foods contaminated with botulinum toxin, wound botulism is caused by Clostridium botulinum colonization of a wound and in situ toxin production, infant botulism is caused by intestinal colonization and toxin production, and adult ...
Jani P G - - 2005
Ogilvie's syndrome was first described by Sir Heneage Ogilvie in 1948 and is a rare disorder comprising acute colonic pseudo obstruction (ACPO) with gross dilation of the caecum and right hemicolon (occasionally extending to the rectum) without an anatomic lesion that obstructs the aboral flow of intestinal contents. A sixty ...
Traboulsi Elias I - - 2005
Familial adenomatous polyposis (FAP) is a colon cancer predisposition syndrome in which hundreds to thousands of precancerous colonic polyp become evident at a mean age of 16 years (range, 7-36 years). By age 35 years, 95% of patients have polyps. Gardner syndrome is the eponym given to a subgroup of ...
Mashour George A - - 2005
Ogilvie's syndrome is an uncommon disorder of acute colonic pseudoobstruction that is often associated with concomitant medical disease or psychiatric medication. Therapeutic interventions include cholinesterase inhibitors, colonic decompression, and, in severe cases, surgery. We report a case of functional obstruction that was resolved after spinal anesthesia. The effect of spinal ...
Semins Michelle Jo - - 2004
Overactive bladder syndrome (OABS) is a widely recognized syndrome with symptoms that can include urinary urgency, frequency, nocturia, and incontinence. Although there may be several causative factors for OABS, detrusor overactivity is the most common. In addition, urinary incontinence can also be due to a distinct but equally bothersome condition ...
Bharucha Adil E. - - 2004
A careful clinical evaluation, exclusion of secondary causes (eg, colonic obstruction, metabolic conditions, and drug-induced constipation), and assessments of colonic transit and rectal evacuation are necessary to ascertain whether constipation is attributable to normal colonic transit, delayed colonic transit (ie, slow-transit constipation), or a rectal evacuation disorder (with or without ...
Blackburn L - - 2004
A 16-year-old boy with cystic fibrosis developed 'cepacia syndrome' 9 years after the first isolation of Burkholderia multivorans. It is important to recognise that 'cepacia syndrome' is not restricted to those infected with genomovar type III strains and that rapid, irreversible clinical decline can occur many years after the 1st ...
Barroso Jornet J M - - 2003
A hepatodiaphragmatic interposition of the colon, known as Chilaiditi's sign, is usually discovered by chance during the study of another event, given that its presentation is normally asymptomatic. When this finding is accompanied by clinical symptoms, either intermittent or persistent, it is known as Chilaiditi syndrome. It may be associated ...
Siqueira Marcelo Araujo - - 2003
A 14-year-old female with Turner syndrome (karyotype 45,X) had a history of abdominal pain with distention, constipation, and fever. She was first operated on for the suspicion of appendicitis, failed to improve, and was later hospitalized for further investigation and treatment. Studies demonstrated an obstructing tumor of the transverse colon, ...
Jain Anil - - 2003
We describe a 70-year-old woman who presented with watery diarrhea and was found to have gastric and colonic polyposis, cutaneous hyperpigmentation, alopecia and onychodystrophy (Cronkhite-Canada syndrome). Histology of a polyp from the stomach showed features of juvenile or retention type (hamartomatous) polyp. One colonic polyp revealed features of tubular adenoma, ...
Martens Eric C - - 2003
An insertion between iscA and hscB of the Xenorhabdus nematophila iscRSUA-hscBA-fdx locus, predicted to encode Fe-S assembly machinery, prevented colonization of Steinernema carpocapsae nematodes. The insertion disrupted cotranscription of iscA and hscB, but did not reduce hscBA expression, suggesting that X. nematophila requires coordinated expression of the isc-hsc-fdx locus for ...
Zwanziger Daniel - - 2003
We compare the physical potential V(D)(R) of an external quark-antiquark pair in the representation D of SU(N), to the color-Coulomb potential V(coul)(R) which is the instantaneous part of the 44-component: of the gluon propagator in Coulomb-gauge D44(x-->,t)=V(coul)(|x-->|)delta(t)+(noninstantaneous). We show that if V(D)(R) is confining, lim(V(D)(R)=+ infinity, as is believed to ...
Georgescu Stefan - - 2003
We present a rare entity of colonic pseudo-obstruction, characterised by severe colonic dilatation in absence of any organic obstacle. Clinical symptoms, diagnostic approach, and therapeutic measures are analysed and discussed. Many factors have been associated with this syndrome which include electrolyte imbalance, systemic infection, drugs, and occasionally, neurologic disease. Reported ...
Turan Mustafa - - 2003
A 47-year-old man with long-standing Behçet's syndrome presented with an acute abdomen, and was found to have perforation of the sigmoid colon. Laparotomy revealed gangrenous changes in the sigmoid colon and perforation in the center of the affected segment. This is a very rare complication of Behçet's disease, and we ...
Vibert Jean François - - 2003
XNBC is intended to simulate biological neural networks. XNBC V9 is an important evolution of the previous versions of the XNBC package, a full featured application for computer naive neuroscientists. XNBC is controlled via a user-friendly interface based on XWindow, Motif (Lesstif) and GTK and produces native colour PostScript high ...
Clemens C H M - - 2002
BACKGROUND: Alosetron is a 5-hydroxytryptamine-3 receptor antagonist reducing symptoms in female patients with diarrhoea-predominant irritable bowel syndrome, and is known to increase the colonic transit time. AIM: To study the effect of alosetron on left colonic phasic motility in ambulant non-constipated patients with irritable bowel syndrome and healthy volunteers. METHODS: ...
Castillo Roque - - 2002
A 67-year-old woman presented with hematochezia and an episode of transient expressive dysphasia. She was found to have multiple colonic polyps with adenocarcinomatous changes. Computed tomography brain scan and computed tomography-guided biopsy revealed a left frontoparietal glioblastoma multiforme. This case illustrates the rare presentation of Turcot syndrome-a hereditary colorectal polyposis ...
Tendler D A - - 2002
OBJECTIVE: Prolapsing intestinal mucosa occurs in many forms throughout the GI tract. We describe 15 patients with polypoid masses in the sigmoid colon and histological features of mucosal prolapse. METHODS: Fifteen patients with colon polyps demonstrating endoscopic and histological features of mucosal prolapse were retrospectively identified from our database. RESULTS: ...
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