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Frequent Clinical Presentation (frequent + clinical_presentation)

Distribution by Scientific Domains

Medical Sciences	100%

Selected Abstracts

Effect of vitamin E supplementation in patients with ataxia with vitamin E deficiency

EUROPEAN JOURNAL OF NEUROLOGY, Issue 5 2001
S. Gabsi
Ataxia with vitamin E (Vit E) defciency (AVED) is an autosomal recessive disorder caused by mutations of the , tocopherol transfer protein gene. The Friedreich ataxia phenotype is the most frequent clinical presentation. In AVED patients, serum Vit E levels are very low in the absence of intestinal malabsorption. As Vit E is a major antioxidant agent, Vit E deficiency is supposed to be responsible for the pathological process. Twenty-four AVED patients were fully investigated (electromyography, nerve conduction velocity (NVC) studies, somatosensory evoked potentials, cerebral computed tomography scan, sural nerve biopsy, genetic studies) and supplemented with Vit E (800 mg daily) during a 1-year period. Clinical evaluation was mainly based on the Ataxia Rating Scale (ARS) for cerebellar ataxia assessment and serum Vit E levels were monitored. Serum Vit E levels normalized and ARS scores decreased moderately but significantly suggesting clinical improvement. Better results were noted with mean disease duration , 15 years. Reflexes remained abolished and posterior column disturbances unchanged. Vitamin E supplementation in AVED patients stabilizes the neurological signs and can lead to mild improvement of cerebellar ataxia, especially in early stages of the disease. [source]

Incontinentia Pigmenti in Boys: A Series and Review of the Literature

PEDIATRIC DERMATOLOGY, Issue 6 2006
Daniela Ardelean M.D.
Occurrences of this disease in boys have been reported, however, its clinical phenotype has not been well characterized. The purpose of this study was to report on additional instances of incontinentia pigmenti in boys and to review the clinical, laboratory, and molecular characteristics of all published such patients. A retrospective chart review and Medline search using the keywords incontinentia pigmenti, males, and NEMO gene was undertaken. Six new boys with incontinentia pigmenti were found in our database and 36 more were previously reported in the literature. The vesiculo-bullous stage was the most frequent clinical presentation at diagnosis (80%). Fifteen percent of patients had an initial unilateral presentation. Recurrences of this stage were noted in 16%. Stages 2 and 3 of the disease were present in only 72.5% and 75% of patients, respectively. Only 15% of the boys had a documented stage 4. Extracutaneous manifestations were also documented (30%, central nervous system manifestations, 35%, eye involvement, 30%, alopecia, 40%, teeth anomalies). Thirty two percent of boys had peripheral eosinophilia. Only five had evidence of NEMO gene mutation. The male phenotype has clinical features similar to those of the female phenotype. Unilateral presentation is a distinct occurrence in boys, especially in early stages. Anomalies are the most common extracutaneous findings, followed by eye, hair, and central nervous system abnormalities. [source]

Dentine hypersensitivity , Australian dentists' perspective

AUSTRALIAN DENTAL JOURNAL, Issue 2 2010
N Amarasena
Abstract Background:, Dentine hypersensitivity is a frequent clinical presentation though inadequately comprehended by dentists. The objective of this study was to describe Australian dentists' perception on the occurrence, predisposing factors, triggers, diagnosis and management of dentine hypersensitivity. Methods:, Eight hundred dentists were randomly selected using the Australian Dental Association membership list and invited to participate in a questionnaire-based survey. Results:, Out of 295 responding dentists, 284 private practitioners were included in the final analysis. Most dentists perceived that the occurrence of dentine hypersensitivity was <20% and commonest among 30,49 year olds. According to them, abrasion and gingival recession were the main predisposing factors whilst cold stimuli were the commonest trigger. A differential diagnosis-based approach was adopted by a majority to diagnose dentine hypersensitivity although routine screening was resorted to by a few. Most dentists were aware of the current mechanisms underlying dentine hypersensitivity whereas the majority perceived that ongoing predisposing factors was the main reason for dentine tubules to remain exposed. The commonest management strategy employed by most dentists was to prescribe desensitizing agents for home use. Conclusions:, Australian dentists' perception of dentine hypersensitivity is generally consistent with the current scientific consensus on this subject. [source]

Epilepsy with dual pathology: Surgical treatment of cortical dysplasia accompanied by hippocampal sclerosis

EPILEPSIA, Issue 8 2010
Dong W. Kim
Summary Purpose:, The presence of two or more epileptogenic pathologies in patients with epilepsy is often observed, and the coexistence of focal cortical dysplasia (FCD) with hippocampal sclerosis (HS) is one of the most frequent clinical presentations. Although surgical resection has been an important treatment for patients with refractory epilepsy associated with FCD, there are few studies on the surgical treatment of FCD accompanied by HS, and treatment by resection of both neocortical dysplastic tissue and hippocampus is still controversial. Methods:, We retrospectively recruited epilepsy patients who had undergone surgical treatment for refractory epilepsy with the pathologic diagnosis of FCD and the radiologic evidence of HS. We evaluated the prognostic roles of clinical factors, various diagnostic modalities, surgical procedures, and the severity of pathology. Results:, A total of 40 patients were included, and only 35.0% of patients became seizure free. Complete resection of the epileptogenic area (p = 0.02), and the presence of dysmorphic neurons or balloon cells on histopathology (p = 0.01) were associated with favorable surgical outcomes. Patients who underwent hippocampal resection were more likely to have a favorable surgical outcome (p = 0.02). Conclusions:, We show that patients with complete resection of epileptogenic area, the presence of dysmorphic neurons or balloon cells on histopathology, or resection of hippocampus have a higher chance of a favorable surgical outcome. We believe that this observation is useful in planning of surgical procedures and predicting the prognoses of individual patients with FCD patients accompanied by HS. [source]

EAACI/GA2LEN guideline: aspirin provocation tests for diagnosis of aspirin hypersensitivity

ALLERGY, Issue 10 2007
E. Ni, ankowska-Mogilnicka
Abstract:, Aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) are among the most common causes of adverse drug reactions. Majority of them are of the hypersensitivity type. The two frequent clinical presentations of aspirin hypersensitivity are: aspirin-induced bronchial asthma/rhinosinusitis (AIA/R) and aspirin-induced urticaria/angioedema (AIU). The decisive diagnosis is based on provocation tests with aspirin, as the in vitro test does not hold diagnostic value as yet. Detailed protocols of oral, bronchial and nasal aspirin provocation tests are presented. Indications, contraindications for the tests, the rules of drug withdrawal and equipment are reviewed. Patient supervision and interpretations of the tests are proposed. [source]