Search results for "rare"
showing 10 items of 2778 documents
Efficacy of Different Medical Therapies for the Treatment of Acute Laryngeal Attacks of Hereditary Angioedema due to C1-esterase Inhibitor Deficiency.
2016
Abstract Background Hereditary angioedema (HAE) is a rare disease characterized by C1-esterase inhibitor (C1-INH) deficiency, resulting in periodic attacks of acute edema, which can be life-threatening if they occur in the upper airway. No head-to-head comparisons of different treatment options for acute HAE attacks are available. Because immediate symptom relief is critical for potentially life-threatening laryngeal attacks, it is important to determine the treatment option that provides optimal treatment response. Objective Review and compare data from clinical studies that evaluated the efficacy and safety of treatments for laryngeal HAE attacks. Methods We conducted an indirect comparis…
A rare case of infrarenal aortic coarctation in a young female
2020
Abstract Introduction Infrarenal abdominal aortic coarctation (AAC) is an extremely rare disease. It can be associated with renal artery stenosis determining secondary renal hypertension. Presentation of case We report a case of AAC in young female patient presenting systemic hypertension non-responder to medical treatment. Diagnostics revealed the involvement of the right renal artery as the cause of hypertension. The management consisted of percutaneous renal artery stenting and close surveillance for the aortic segment. The treatment was uneventful with resolution of the hypertensive condition. Discussion AAC etiology is unknown. There are no studies comparing the long-term treatment out…
Myositis ossificans of the masseter muscle: A rare location. Report of a case and review of literature
2016
Background Myositis Ossificans is a rare heterotopic bone formation within a muscle being the masticatory muscles exceptionally involved. In most cases there is a previous trauma, bearing in mind that there may be many other etiologies. CT scan and panoramic radiographs along with histological findings are essential diagnostic aids. Case Desciption We report a rare case of MO of masseter muscle in 49 years-old woman after repetitive wisdom tooth infection with the discussion of clinical, radiological and histological features. Clinical Implications MO is a rare disease of masticatory muscles being the masseter the most frequently affected. Wide surgical excision with free margins is the tre…
A rare case of ruptured aneurysm of the paramedian artery of Percheron.
2018
Introduction The artery of Percheron is a rare anatomic variant supplying bilateral medial thalamic nuclei and a variable portion of the rostral part of midbrain. Case report A 48-year-old female with massive subarachnoid hemorrhage due to a ruptured aneurysm of the paramedian artery of Percheron presented to the emergency room. Because of significant risk of recurrent intracranial hemorrhage, it was decided to proceed with endovascular embolization of the aneurysm. The patient was ultimately sent to a rehabilitation center and her presenting neurologic deficits showed significant improvements in the weeks following endovascular embolization treatment. Discussion The paramedian artery of Pe…
Rare dyslipidaemias, from phenotype to genotype to management: a European Atherosclerosis Society task force consensus statement
2020
Genome sequencing and gene-based therapies appear poised to advance the management of rare lipoprotein disorders and associated dyslipidaemias. However, in practice, underdiagnosis and undertreatment of these disorders are common, in large part due to interindividual variability in the genetic causes and phenotypic presentation of these conditions. To address these challenges, the European Atherosclerosis Society formed a task force to provide practical clinical guidance focusing on patients with extreme concentrations (either low or high) of plasma low-density lipoprotein cholesterol, triglycerides, or high-density lipoprotein cholesterol. The task force also recognises the scarcity of qua…
Relationship between Skin Temperature Variation and Muscle Damage Markers after a Marathon Performed in a Hot Environmental Condition
2021
This study aimed to assess the effect of a marathon running at a hot environmental temperature on the baseline skin temperature (Tsk) of the posterior day and to analyze the relationship between Tsk response and muscle damage markers variation. The Tsk, creatine kinase, and lactate dehydrogenase of 16 marathon runners were assessed four times before (15 days and 45 min) and after (24 h and 6 days) a marathon in a hot environment (thermal stress index = 28.3 ± 3.3 °C and humidity ~81%). The Tsk of thirteen different body regions of both right and left lower limbs were analyzed. Higher values after the marathon were observed than 45 min before in creatine kinase (174.3 ± 136.4 UI/L <
Fluorescent in situ hybridization (FISH): A useful diagnostic tool for childhood conjunctival melanoma
2021
Introduction: Conjunctival melanoma is extremely rare in children and has low rates of resolution. Definitive histopathological diagnosis based exclusively on microscopic findings is sometimes difficult. Thus, early diagnosis and adequate treatment are essential to improve clinical outcomes. Clinical case: We present the first case in which the fluorescent in situ hybridization (FISH) diagnostic technique was applied to a 10-year-old boy initially suspected of having amelanotic nevi in his right eye. Based on the 65% of tumor cells with 11q13 (CCND1) copy number gain and 33% with 6p25 (RREB1) gain as measured by the FISH analysis, and on supporting histopathological findings, the diagnosis …
A Rare Case of Giant Basal Cell Carcinoma of the Abdominal Wall: Excision and Immediate Reconstruction with a Pedicled Deep Inferior Epigastric Arter…
2017
Patient: Female, 82 Final Diagnosis: Giant basal cell carcinoma Symptoms: Anemia Medication: — Clinical Procedure: — Specialty: Plastic Surgery Objective: Rare disease Background: Basal cell carcinoma (BCC) greater than 5 cm in diameter is called giant basal cell carcinoma (GBCC), or super giant basal cell carcinoma if it has a diameter larger than 20 cm. Giant BCC only accounts for 0.5% of BCCs and super giant BCC is exceedingly rare. On account of their rarity, there are no established guidelines for GBCC treatment. Case Report: We describe a peculiar case of an 82-year-old woman with a GBCC carcinoma of the lower abdominal wall. The tumor was surgically removed with ipsilateral inguinal …
Analysis of radiolucent gallstones by computed tomography for in vivo estimation of stone components.
1990
. Successful oral litholytic and other non-operative therapies of gallstones require exact determination of the stone components. Since computed tomography (CT) provides highly sensitive measurement of density, we performed a study to evaluate whether CT measurement of stone density allows a prediction of the composition of radiolucent gallstones. Twenty-eight patients presenting with 29 radiolucent gallbladder (n= 17) or common bile duct stones (n=12) were included. Prior to operative or endo-scopic therapy the attenuation values (Hounsfield Units, HU) were assessed in vivo by CT under standardized conditions (Somatom II, 125 KV, 130 mAs). After surgical or endoscopic stone removal the con…
Infrared thermal imaging in the diagnosis of musculoskeletal injuries: a systematic review and meta-analysis.
2014
OBJECTIVE. Musculoskeletal injuries occur frequently. Diagnostic tests using ionizing radiation can lead to problems for patients, and infrared thermal imaging could be useful when diagnosing these injuries. CONCLUSION. A systematic review was performed to determine the diagnostic accuracy of infrared thermal imaging in patients with musculoskeletal injuries. A meta-analysis of three studies evaluating stress fractures was performed and found a lack of support for the usefulness of infrared thermal imaging in musculoskeletal injuries diagnosis.