Search results for "Differential diagnosis"
showing 10 items of 404 documents
Gastrointestinal stromal tumour of the rectum: Report of a case and review of literature
2008
Gastrointestinal stromal tumour (GIST) is a rare tumour of the gastrointestinal tract which does not generally originate in the rectum. The authors describe a case of a 70-year-old man who underwent an anterior resection of the rectum for a low-risk GIST. The patient was not given adjuvant chemotherapy with imatinib and is still disease-free 30 mo after surgery. The authors conclude that although rectal GIST is extremely uncommon, it should be included in differential diagnosis when a tumour in the rectum is detected. Biopsy of the tumour is essential, since this makes it possible to reach a sure preoperative diagnosis based on the immunohistological features of the CD117 and CD34. Although…
Chronic pharmacological treatment in takotsubo cardiomyopathy.
2008
Abstract Background Takotsubo cardiomyopathy is a disorder that has been appreciated only recently. In most of reported cases, this syndrome mimes an acute myocardial infarction. Till this moment no data are available from literature about the treatment in the acute phase of this disease. Aim of the study In our multicentric experience we have retrospectively looked at the benefits of a treatment with ACE-inhibitors, beta-blockers, Aspirin and calcium channels blockers, started until the early phases of the disease and continued for 30 days, in 36 patients affected by Takotsubo cardiomyopathy. We chose as endpoint of the study the efficacy of the used drug in improving left ventricular myoc…
Real-time ultrasound in Crohn's disease: characteristic features and clinical implications.
1986
Thirty-two children with Crohn's disease were evaluated by real-time ultrasonography. The typical pattern of Crohn's disease caused by bowel wall thickening is the “bull's eye phenomenon”, the elongated tubular stiff bowel loop with narrowing of the lumen and the small bowel conglomerate tumor. In indefinable abdominal complaints sonography may lead to the correct diagnosis. The differential diagnosis of similar sonographic features and the limitations of ultrasound in gastrointestinal disease must be considered. In proven Crohn's disease the findings in follow-up match the clinical course and may delineate complications, such as ileus, abscess, hydronephrosis, gallstones or involvement of …
Hereditary Angioedema with Normal C1 Inhibitor
2013
Until recently it was assumed that hereditary angioedema was a disease that results exclusively from a genetic deficiency of the C1 inhibitor. In 2000, families with hereditary angioedema, normal C1 inhibitor activity, and protein in plasma were described. Since then, numerous patients and families with that condition have been reported. Most of the patients were women. In many of the affected women, oral contraceptives, hormone replacement therapy containing estrogens, and pregnancies triggered the clinical symptoms. In some families mutations in the coagulation factor XII (Hageman factor) gene were detected.
Red ear syndrome in children: Review of literature and report of three cases
2020
Abstract Background Red ear syndrome (RES) is a neurological syndrome that is characterized by attacks of redness and pain that is localized in the earlobe, accompanied by a burning sensation, swelling or otalgia. The exact pathophysiology of RES is not known. Several pediatric cases have been described. They show an extreme variability in clinical presentation and therapeutic response, and therefore there are numerous difficulties in the diagnostic-therapeutic approach and in the comprehension of the physiopathology. The goal of this report is to present three clinical cases of red ear syndrome in children. These cases show various characteristics that can give useful indications regarding…
Idiopathic neutropenia of infancy: Data from the Italian Neutropenia Registry.
2019
Autoimmune neutropenia of infancy (AIN) is characterized by low risk of severe infection, tendency to spontaneously resolve and typically onset at ≤4-5 years of age; it is due to auto-antibodies whose detection is often difficult. In case of negativity of 4 antineutrophils autoantibody tests, after having excluded ethnic, postinfection, drug induced, or congenital neutropenia, according to the Italian guidelines the patients will be defined as affected by "idiopathic neutropenia" (IN). We describe the characteristics of 85 IN patients enrolled in the Italian neutropenia registry: they were compared with 336 children affected by AIN. The 2 groups were clinically very similar and the main dif…
Acute painful paraplegia in a 49-year-old man with allergic asthma.
2014
We present a case of a 49-year-old man, with a 10-year history of bronchial asthma and nasal polyposis, who developed acutely painful paraplegia and paresthesias. Laboratory data showed elevated blood creatine kinase levels and myoglobinuria, which were diagnostic for rhabdomyolysis but only partially explained the neurological deficit. Electrophysiological studies revealed a sensorimotor neuropathy of multiple mononeuritis type. The patient also had leucocytosis with marked eosinophilia and antineutrophil cytoplasmic autoantibodies. Bronchial biopsies showed inflammatory infiltrates with a prevalence of eosinophils. All these findings led us to diagnose eosinophilic granulomatosis with pol…
FACTORS AFFECTING THE DIAGNOSTIC DELAY IN AMYOTROPHIC LATERAL SCLEROSIS
2012
Abstract Background Although amyotrophic lateral sclerosis (ALS) is a relentlessly progressive disorder, early diagnosis allows a prompt start with the specific drug riluzole and an accurate palliative care planning. ALS at onset may however mimic several disorders, some of them treatable ( e.g. , multifocal motor neuropathy) or epidemiologically more frequent ( e.g. , cervical myelopathy). Objective To study the delay from onset to diagnosis in a cohort of ALS patients and to the variables that may affect it. Methods We performed a retrospective analysis of the diagnostic delays in a cohort of 260 patients affected by ALS (M/F = 1.32) followed at our tertiary referral ALS Center between 20…
Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey.
2004
Background Fabry disease is a rare X-linked disorder caused by deficient activity of the lysosomal enzyme α-galactosidase A. Progressive accumulation of the substrate globotriaosylceramide in cells throughout the body leads to major organ failure and premature death. In response to the recent introduction of enzyme replacement therapy, the Fabry Outcome Survey (FOS) was established to pool data from European clinics on the natural history of this little-known disease and to monitor the long-term efficacy and safety of treatment. This paper presents the first analysis of the FOS database and provides essential baseline data against which the effects of enzyme replacement can be measured. De…
Perforated giant mycotic aneurysm of mitral valve in a drug-addicted young man: Rare complication of infective endocarditis
2017
Infective endocarditis (IE) affects patients at high clinical risk and may present as an acute and rapidly progressive, subacute or chronic infection. Transthoracic and transesophageal echocardiography represent the key diagnostic method in IE diagnosis. In particular, three-dimensional transesophageal echocardiography represents the imaging technique that allows to establish with adequate accuracy dimensions, shape, and localization of endocarditis vegetations. In our case, we show a huge vermiform mycotic aneurysm in an immunodeficient young drug-addicted man with severe mitral valve regurgitation and the additive value of three-dimensional transesophageal echocardiography in this specifi…