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Malagelada Francesc F The Royal National Orthopaedic Hospital, Stanmore. Electronic address: - - 2014
Copenhagen syndrome, or progressive non-infectious anterior vertebral fusion, is a rare disorder of unknown aetiology that usually presents with thoraco-lumbar kyphosis in childhood. There have been no long-term reports on outcome in children with multiple affected levels with longitudinal imaging from infancy to adulthood. To report long term outcome of ...
Kron Miriam M Department of Neurosciences, Case Western Reserve University School of Medicine, 10900 Euclid Avenue, Cleveland, OH 44106, - - 2014
Reduced levels of brain-derived neurotrophic factor (BDNF) are thought to contribute to the pathophysiology of Rett syndrome (RTT), a severe neurodevelopmental disorder caused by loss-of-function mutations in the gene encoding methyl-CpG-binding protein 2 (MeCP2). In Mecp2 mutant mice, BDNF deficits have been associated with breathing abnormalities, a core feature of ...
Smolensky Michael H MH Department of Biomedical Engineering, Cockrell School of Engineering, The University of Texas at Austin, Austin, TX, USA. Electronic address: - - 2014
The symptom intensity and mortality of human diseases, conditions, and syndromes exhibit diurnal or 24 h patterning, e.g., skin: atopic dermatitis, urticaria, psoriasis, and palmar hyperhidrosis; gastrointestinal: esophageal reflux, peptic ulcer (including perforation and hemorrhage), cyclic vomiting syndrome, biliary colic, hepatic variceal hemorrhage, and proctalgia fugax; infection: susceptibility, fever, and mortality; ...
Kessing Boudewijn F BF Department of Gastroenterology and Hepatology, Academic Medical Center, Amsterdam, The - - 2014
The rumination syndrome is a behavioral condition characterized by postprandial regurgitation. In contrast to what many think, the disorder does not exclusively occur in mentally disabled patients or children but also in otherwise healthy adults. As symptoms of postprandial regurgitation are often mistaken for gastroesophageal reflux disease or vomiting, the ...
Gunduz Yasemin Y Department of Radiology, Sakarya University Medical Faculty, Sakarya 54100, - - 2014
Median arcuate ligament syndrome is an anatomic and clinical entity characterized by dynamic compression of the proximal celiac artery by the median arcuate ligament, which leads to postprandial epigastric pain, vomiting, and weight loss. These symptoms are usually nonspecific and are easily misdiagnosed as functional dyspepsia, peptic ulcer disease, or ...
Santos Guida G Department of Dermatology and Venereology, Hospital Santo António dos Capuchos, Centro Hospitalar de Lisboa Central, - - 2014
Despite encouraging reports on the efficacy of intravenous immunoglobulin (IVIg) in antiphospholipid syndrome, the clinical value of this treatment is not well established, and most of the data are based on case reports and small series of patients. We describe the significant improvement of leg ulcers with IVIg in a ...
Szodoray P P 1Institute of Immunology, Rikshospitalet, University of Oslo, Oslo, - - 2014
The authors report a rare case of a female patient with mixed connective tissue disease (MCTD) with coexisting antiphospholipid syndrome (APS). Five years after the diagnosis of MCTD high concentrations of anticardiolipin (anti-CL) and anti-β2-glycoprotein (anti-β2GPI) autoantibodies were present in the patient's serum without thrombotic events. Epstein-Barr virus (EBV) reactivation ...
Keller Martina M Department of Internal Medicine, Kantonsspital St. Gallen, St. Gallen, - - 2014
The case of a 77-year-old woman with symptoms of gastric outlet obstruction is presented. Transabdominal ultrasonography findings were suspicious of Bouveret's syndrome. Upper endoscopy confirmed this diagnosis. Bouveret's syndrome is a rare complication of gallstone disease caused by a bilioenteric fistula leading to gastric outlet obstruction by a gallstone and ...
Warling Odile O Odile Warling, Department of Internal Medicine, CHU de Liège, University of Liège, 4000 Liege, - - 2014
The association of primary sclerosing cholangitis (PSC) and autoimmune hepatitis (AIH) is known as an overlap syndrome (OS). OS can also be described in the setting of concomitant presence of AIH and PSC. These diseases can in some cases be associated with ulcerative colitis. In this case report we describe, ...
Romero Maroto M M Department of Pediatric Dentistry and Orthodontics, Rey Juan Carlos University, Alcorcón, Madrid, - - 2014
Lesh-Nyhan Syndrome is a hereditary disorder that affects the way in which the body handles the production and breakdown of purines. One of its main characteristic is self-mutilation. We present a new appliance which allows healing to occur.
Riganti Julia J Department of Dermatology, Hospital Italiano de Buenos Aires, Buenos Aires, - - 2014
All-trans retinoic acid (ATRA) is routinely associated with chemotherapy for the treatment of acute promyelocytic leukemia (APL). Several reports of scrotal ulceration induced by this agent have been made in the recent years. The aim of this article was to report the first case of a lingual ulceration associated with ...
Yen H-W - - 2014
A 61-year-old male had osmotic demyelination syndrome caused by rapid correction of gastric ulcer bleeding and vomiting related hyponatraemia with normal saline. It is rare to see severe hyponatraemia caused by gastric ulcer bleeding and vomiting. Hypokalaemia may be the determinant predisposing factor. There was no specific brain image finding ...
Sato Hiroaki - - 2014
Superior mesenteric artery (SMA) syndrome occurs when the third portion of duodenum becomes tightly compressed between the SMA and the abdominal aorta (AA). Several causes of the SMA syndrome have been postulated such as marked weight loss, external compression of the abdomen, anatomic variation, and surgical alterations of anatomy. This ...
Ströker E - - 2014
The association between proton pump inhibitor (PPI) therapy and hypomagnesaemia has been recognized since 2006. We report the case of a 51-year-old woman who developed severe symptomatic hypomagnesaemia after a long-term PPI therapy given for recurrent peptic ulcer disease. Hypomagnesaemia could only partially be resolved during substitution therapy, but was ...
Stawczyk-Macieja Marta M Department of Dermatology, Venereology and Allergology, Medical University of Gdansk, Poland. Head of Department: Prof. Roman Nowicki MD, - - 2014
Malignant acanthosis nigricans is a rare paraneoplastic skin syndrome mostly associated with gastric adenocarcinoma. Florid cutaneous papillomatosis and tripe palms syndrome are considered to be abortive clinical variants of acanthosis nigricans. Clinical manifestations include pruritic, hyperkeratotic and hyperpigmented plaques with a subsequent formation of velvety papillomas in the involved areas. ...
Durkin John J School of Medicine, University of Pittsburgh, Pittsburgh, - - 2014
Cytomegalovirus (CMV) can rarely present with skin findings. Cutaneous CMV is most often found in patients who are immunocompromised because of acquired immunodeficiency syndrome, lymphoma, or other conditions. We present a rare case of an immunocompetent 7-week-old girl with a perianal ulcer attributed to CMV.
Naalla Ravikiran R Department of General Surgery, Kasturba Hospital, Manipal University, Manipal, Karnataka, - - 2014
Carcinoid tumours are uncommon well-differentiated neuroendocrine tumours. Primary duodenal carcinoids account for less than 2% of all gastrointestinal carcinoids. Duodenal carcinoids are seldom associated with carcinoid syndrome. We report a rare case of duodenal carcinoid presenting as a carcinoid syndrome in a middle-aged man with upper abdominal pain, hot flushes, ...
Kumar Parimalam P Department of Dermatology, Thanjavur Medical College, Thanjavur, Tamil Nadu, - - 2014
Trigeminal trophic syndrome (TTS) is a rare cause of facial ulceration, consequent to damage to the trigeminal nerve or its central sensory connections. We reporta case of TTS in a 48-year-old woman with Bell's palsy following herpes zoster infection. The patient was treated and counseled. There hasnot been any recurrence ...
Fantauzzi Alessandra A Department of Clinical Medicine, Sapienza, University of Rome, - - 2014
HIV-1-associated Guillan-Barr� syndrome (hGBS) is an ascendant progressive polyradiculoneuropathy described throughout the course of the viral disease, mainly associated with the acute retroviral syndrome. HGBS is occasionally described in severely immunocompromised subjects in the context of the immune reconstitution inflammatory syndrome. The case described occurred soon after the start of ...
Wei Xiao-Li XL Department of Medical Oncology, Sun Yat-sen University Cancer Center, State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangzhou, - - 2014
Metabolic syndrome and/or its components have been demonstrated to be risk factors for several cancers. They are also found to influence survival in breast, colon and prostate cancer, but the prognostic value of metabolic syndrome in gastric cancer has not been investigated. Clinical data and pre-treatment information of metabolic syndrome ...
Yap Paul P Gastroenterology Unit, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Kuala Lumpur, - - 2014
Dyspepsia is a common gastroenterological problem with an estimated global prevalence between 7 and 40%. Functional dyspepsia (FD) is a major economic burden to patients and healthcare systems and significantly affects patient quality of life. The ROME III definition of FD divides it into two subgroups, epigastric pain syndrome and ...
Robert Maxime M Department of Medical Oncology, Paoli-Calmettes Institute, Marseille, - - 2014
We herein report the case of a 73-year-old woman who developed skin and nail disorders 2 months before her digestive symptoms started, which lead to the diagnosis of gastric adenocarcinoma. The lesions were diagnosed as Bazex syndrome, usually seen in squamous cell carcinoma. Under systemic chemotherapy, the cutaneous signs improved ...
Mahajan Parag Suresh PS Department of Radiology, Al-Khor Hospital, Hamad Medical Corporation, Doha, - - 2014
Perforation of a duodenal ulcer (DU) into the retroperitoneal space presenting with clinical features of acute appendicitis is known as Valentino's syndrome. Post duodenal perforation, the gastric and duodenal fluids tend to settle in the right paracolic gutter causing peritonitis and clinically mimicking acute appendicitis. Only three cases of Valentino's ...
Viegelmann G - - 2013
Achalasia is a rare primary oesophageal motility disorder, which presents as a functional obstruction at the oesophago-gastric junction. The prevalence of achalasia in Down syndrome is much higher, which implies a unique association between these two uncommon conditions. Although the exact aetiology of achalasia is unknown, autoimmune, infectious and genetic ...
Bolaji Ranti S - - 2013
Trigeminal trophic syndrome (TTS) is a rare condition that results from a prior injury to the sensory distribution of the trigeminal nerve. Patients typically respond to the altered sensation with self-mutilation, most often of the nasal ala. We describe 3 patients with TTS who presented with self-induced ulcerations primarily involving ...
Golabi Mahin - - 2013
LUMBAR syndrome (lower body congenital infantile hemangiomas and other skin defects; urogenital anomalies and ulceration; myelopathy; bony deformities; anorectal malformations and arterial anomalies; and rectal anomalies) is a rare association between infantile hemangiomas of the lower half of the body and regional congenital anomalies. Since 1986, 53 cases have been ...
Kahrilas Peter J - - 2013
Along with upper airway cough syndrome (formerly, postnasal drip syndrome) and eosinophilic airway inflammation (asthma, nonasthmatic eosinophilic bronchitis), gastroesophageal reflux disease (GERD) is generally considered among the most common etiologies of chronic cough. Indeed, cough management guidelines published by numerous respiratory societies worldwide recommend evaluation and treatment of GERD as ...
Tasneem Abbas Ali AA Department of Hepatogastroenterology, Aga Khan Hospital for Woman, Karimabad. - - 2013
Hyper Immunoglobulin E syndrome also called Job's or Buckley Syndrome is a rare primary immunodeficiency disease characterized by elevated serum IgE levels (> 2000 IU/ml), recurrent infections and eosinophilia. Other features include coarse facies and non-immunologic abnormalities of the dentition, bones, vasculature and connective tissues. We are reporting a case ...
Shah D D Department of Radio-Diagnosis, Padmashree Dr. D.Y. Patil Hospital and Research Centre, Pimpri, Pune, Maharashtra, - - 2013
Upper gastrointestinal symptoms like vomiting, abdominal pain, abdominal distention may be caused by many conditions like complicated peptic/duodenal ulcer, gastritis or hiatal hernia. However, these symptoms are uncommonly produced by superior mesenteric artery (SMA) syndrome. SMA syndrome is triggered when there is narrowing of the mesenteric angle and shortening of ...
Cicciù M - - 2013
Stevens-Johnson syndrome (SJS) is a rare genetic disorder. The syndrome presents with severe purulent conjunctivitis, stomatitis with mucosal necrosis, and purpuric macules. This syndrome is associated with hypersensitive reaction usually stimulated by infection, vaccination, systemic diseases, physical agents, foods or drugs. However, only few cases reported can be related to ...
Altun Eda E Department of Nephrology, Faculty of Medicine, Cukurova University, Adana 01130, - - 2013
The milk-alkali syndrome (MAS) was a common cause of hypercalcemia, metabolic alkalosis, and renal failure in the early 20(th) century. This syndrome was first recognized secondary to treatment of peptic ulcer disease with milk and absorbable alkali. Its incidence fell after the introduction of H2-blocker and proton pump inhibitor. Persistent ...
Bhat Ramesh - - 2013
Leprosy maybe "unmasked" in the context of immune reconstitution inflammatory syndrome and treating dermatologists, particularly in highly endemic areas for Hansen's disease, need to be cognizant to this possibility. It may also reflect emergence of a previously clinically silent infection in the course of immunologic restoration.
Gjevre Anne-Gerd - - 2013
Gizzard erosion and ulceration syndrome (GEU) was described for the first time in the 1930s. The main focus of early studies was on nutritional deficiencies and peroxidation of highly polyunsaturated fatty acids as causative factors. During the 1970s and 1980s the focus was moved towards toxic substances in the feed. ...
Patil Pankaj - - 2013
Numbness and ulceration of the face, particularly erosion of ala of the nose, sometimes occur after sensory denervation in the territory of the divisions of the trigeminal nerve. The incidence is uncertain and usually follows surgical treatments for trigeminal neuralgia. Such condition is known as trigeminal trophic syndrome (TTS), although ...
Mocanu Mihaela-Aura MA Department of Statistics, University of - - 2013
The AIM of our study was to evaluate gastric, duodenal and gallbladder motility disorders in patients with gastroesophageal reflux disease (GERD) and metabolic syndrome. We studied 128 patients with GERD divided into two groups: first group with metabolic syndrome and the second without metabolic syndrome. By abdominal ultrasound we monitored ...
Playford Raymond J RJ Office of the Vice Chancellor, Plymouth University, Plymouth, UK. - - 2013
Postprandial reactive hypoglycemia, early satiety and diarrhea are well-recognized side effects following full or partial gastrectomy or gastric bypass. It has only recently been realized, however, that patients with normal gastric anatomy may experience similar symptoms and signs due to primary accelerated gastric emptying (Middleton syndrome). In previous case studies, ...
Okubo Yohei - - 2013
We report a case of juvenile gastric polyposis associated with antiphospholipid syndrome. A 42-year-old woman was admitted with a chief complain of fatigue. Six years earlier, antiphospholipid syndrome was diagnosed and treated with aspirin. Two years earlier, gastric polyps were endoscopically observed, the number and size of which subsequently increased. ...
Chiu K W H KW Department of Radiology, Hull Royal Infirmary, Hull, - - 2013
Acute aortic syndrome (AAS) is a constellation of potentially life-threatening acute aortic diseases. The spectrum includes penetrating atherosclerotic ulcer, intramural haematoma, dissection, and unstable thoracic aneurysm. AAS cannot be reliably diagnosed clinically and multidetector computed tomography (MDCT) has revolutionized the diagnosis and management of this group of conditions in the ...
Almaroof Babatunde H - - 2013
The distal revascularization and interval ligation procedure is commonly performed for steal syndrome in upper arm arteriovenous accesses and is rarely performed in the forearm. We present a case of distal revascularization and interval ligation procedure performed for a 60-year-old male who presented with a 3-month history of a nonhealing ...
Kazarin Olga - - 2013
Li-Fraumeni syndrome is a cancer predisposition syndrome associated with a variety of neoplasms, mainly soft tissue sarcoma, premenopausal breast cancer, brain tumors, adrenocortical carcinoma, and leukemia. Esophageal leiomyomatosis involves the presence of several rare benign neoplastic lesions composed of proliferating smooth muscle cells in the esophageal wall. The current case ...
Arroyo Mariangeli - - 2013
The milk-alkali syndrome was a common cause of hypercalcemia, metabolic alkalosis, and renal failure in the early 20th century. It was caused by the ingestion of large quantities of milk and absorbable alkali to treat peptic ulcer disease. The syndrome virtually vanished after introduction of histamine-2 blockers and proton pump ...
Tamatey M N - - 2013
Boerhaave's syndrome (Spontaneous oesophageal perforation following forceful vomiting) is uncommon. However, when it occurs and the appropriate treatment is not given on time, it is fraught with early complications, leading to a very high mortality rate. This is a characteristic feature of this syndrome. Patient survival is in days. We ...
Dragean C A - - 2013
The giant ulcer of esophagus is a rare entity in the context of human immunodeficiency syndrome. In front of this type of ulceration the radiologist must to distinguish between two types of ulcers HIV, cytomegalovirus (CMV). The differential diagnosis is necessary for orientation of the therapy and is the result ...
Lu Ying-Ying YY Department of Gastroenterology, Shanghai First People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200080, - - 2013
Multiple endocrine neoplasia type 1 (MEN1) is a rare hereditary syndrome known to predispose subjects to endocrine neoplasms in a variety of tissues such as the parathyroid glands, pituitary gland, pancreas and gastrointestinal tract. We herein report a patient with a past history of pituitary adenoma, presenting with symptoms of ...
Haanstra Jasmijn F - - 2013
Lynch syndrome, or hereditary nonpolyposis colorectal cancer (HNPCC), is the most common hereditary condition predisposing for colorectal cancer. International guidelines recommend surveillance of the colorectum by colonoscopy every 1-2 years starting at the age of 20-25 years. This has been shown to reduce the incidence of, and mortality due to colorectal cancer. ...
Leggett Cadman L CL Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN, - - 2013
To assess the association between Barrett esophagus (BE) and the metabolic syndrome in patients with and without reflux symptoms and to determine whether this association is reflux independent and metabolically driven. Case patients with BE and controls were residents of Olmsted County, Minnesota (1999-2006). Two control groups (one with and ...
Ho Bo-Lin - - 2013
We described a 41-year-old woman presenting with subacute onset of left hemihypesthesia, left facial palsy, dysphagia and dysgeusia. A cranial T2-weighted magnetic resonance imaging revealed bilateral inhomogeneous medullary hyperintensities. The clinical manifestations conformed to Avellis syndrome, and were linked to the diagnosis of ulcerative colitis which was proved by serological ...
Sasaki Yu - - 2013
A 58-year-old woman with severe constipation and a habit of straining at defecation was diagnosed to have mucosal prolapse syndrome. One year later, her primary symptom changed to bloody diarrhea. The colonoscopic and histological findings were consistent with the characteristics of cap polyposis. After nine years, her symptoms and colonoscopic ...
Sinagra Emanuele - - 2013
Zollinger-Ellison syndrome is an often progressive, persistent and frequently life-threatening disease, described for the first time as characterized by ulceration of the upper jejunum, hypersecretion of gastric acid and non-beta islet cell tumors of the pancreas; this syndrome is due to the hypersecretion of gastrin. We report a case of ...
Ali Alaa M - - 2013
An 86-year-old Caucasian woman with a medical history of monoclonal gammopathy of undetermined significance (MGUS) was admitted to the hospital with a chief complaint of sudden onset of bluish discolouration of the fifth left hand digit. On a physical examination, cyanosis of the fifth digit of the left hand was ...
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