Search results for "Pathognomonic"
showing 10 items of 22 documents
Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases.
2018
International audience; Wiedemann-Steiner syndrome (WSS) is a rare syndromic condition in which intellectual disability (ID) is associated with hypertrichosis cubiti, short stature, and characteristic facies. Following the identification of the causative gene (KMT2A) in 2012, only 31 cases of WSS have been described precisely in the literature. We report on 33 French individuals with a KMT2A mutation confirmed by targeted gene sequencing, high-throughput sequencing or exome sequencing. Patients' molecular and clinical features were recorded and compared with the literature data. On the molecular level, we found 29 novel mutations. We observed autosomal dominant transmission of WSS in 3 fami…
Oculopharyngeal muscular dystrophy in a northern German family linked to chromosome 14q, and presenting carnitine deficiency
1997
We report the evaluation of oculopharyngeal muscular dystrophy (OPMD) in a large northern German family, which can be traced back six generations and is unrelated to French-Canadian families. The symptoms in this family start at about 50 years of age and include dysphagia, bilateral ptosis, and in some cases a slowly progressive atrophy and weakness of other extraocular, facial or limb girdle muscles. The muscle biopsies showed the pathognomonic ultrastructural finding of characteristic intranuclear filaments. Linkage analysis confirmed that this family is also linked to chromosome 14q markers. Haplotype analysis revealed that a unique haplotype segregates with the disease which is differen…
Comparison of131I-metaiodobenzylguanidine scintigraphy with urinary and plasma catecholamine determinations in the diagnosis of pheochromocytoma
1985
In a retrospective study of 31 patients with suspected pheochromocytoma we examined the preoperative results of 131I-metaiodobenzylguanidine (131-I-MIBG) scintigraphy and a fluorimetric urine catecholamine determination test. An additional radioenzymatic plasma catecholamine determination test was performed in 25 patients. In 14 of the 31 patients the diagnosis of pheochromocytoma was later histologically confirmed. In the remaining 17 patients the suspected diagnosis was finally rejected after a clinical decision had been made on the basis of clinical history, symptoms, laboratory and imaging tests. 131-I-MIBG scintigraphy apparently had a very high specificity (no false-positive results a…
Oral verruciform xanthoma : report of 13 new cases and review of the literature
2018
Background Oral verruciform xanthoma (OVX) is a rare lesion. The purpose of the present study is to describe the clinical features of 13 OVXs and review all cases reported in the English literature. Material and Methods Thirteen cases of OVX diagnosed during a 47-year period were retrospectively collected. The patients’ gender and age, as well as the main clinical features of the lesions were retrieved from the biopsy request forms. Pubmed®, Scopus® and Google ScholarTM electronic databases were searched with the key word “verruciform xanthoma”. Only cases of histologically confirmed OVX were included in the study. Results The 13 OVXs represented approximately 0.04% of 35,617 biopsies acces…
A case of lipogranulomatosis Farber: some clinical and ultrastructural aspects
1985
A 20-month-old girl showed typical clinical signs of Farber disease: hoarseness since birth, and periarticular subcutaneous painful nodules. Complete deficiency of acid ceramidase activity was found in cultured skin fibroblasts. An electron microscopic examination of a dermal nodule disclosed pathognomonic tubular inclusions in histiocytes. In epidermal cells zebra-body-like and needle-like lysosomal inclusions were found. Their ultrastructure is different from that of the intrahistiocytic lysosomal inclusions. Probably three clinical types of Farber disease may be distinguished according to the symptomatology and the course of the disease: a severe type, an intermediate type and a relative…
Validity of the Colposcopic Criteria Inner Border Sign, Ridge Sign, and Rag Sign for Detection of High-Grade Cervical Intraepithelial Neoplasia
2013
OBJECTIVE: To evaluate the association of three patho-gnomonic criteria, inner border, ridge sign, and rag sign with high-grade cervical intraepithelial neoplasia (CIN) using video exoscopy. METHODS: Retrospective evaluation of video recordings of 335 patients, referred for diagnostic colposcopy, who underwent cervical biopsies, and, if indicated loop excisions, was performed. The most severe histologic diagnosis was recorded. Sensitivity, specificity, positive, negative predictive value, and likelihood ratios for highgrade CIN were calculated. RESULTS: In 285 patients (85%), a single colposcopy directed biopsy was taken; 50 patients (15%) underwent two biopsies. One hundred sixty-two patie…
Chest CT in COVID-19 Pneumonia: Potentials and Limitations of Radiomics and Artificial Intelligence
2021
SARS-CoV-2 epidemics has resulted in an unprecedented global health crisis causing a high number of deaths with pneumonia being the most common manifestation. Chest CT is the best imaging modality to identify pulmonary involvement, but unfortunately there are no pathognomonic features for COVID-19 pneumonia, since many other infectious and non-infectious diseases may cause similar alterations. The adoption of artificial intelligence in biomedical imaging has the potential to revolutionize the identification, management, and the patient’s outcome. If adequately validated, it could be used as a support with predictive and prognostic purposes in symptomatic patients but also as a screening tes…
Drugs and Toxins Effects on the Liver
2011
Drug induced hepatotoxicity can be defined as a liver injury caused by drug or herbal medicines leading to liver test abnormalities or to a liver dysfunction with a reasonable exclusion of the other competing aetiologies. The liver has a central function in the metabolism of the xenobiotics, and as a result it may be susceptible to its toxic or idiosyncratic effects. While the overall incidence of drug induced liver injury (DILI) is infrequent (1 in 10.000 to 100.000 persons exposed), the impact is significant in the general population, with broad implications for patients, physicians, pharmaceutical industries and governmental regulatory agencies. DILI is the principle reason for the termi…
Radiologie des gastrointestinalen Stromatumors (GIST). Gleichzeitig ein Beitrag zum Carney-Syndrom
2000
Gastrointestinal stromal tumors (GIST) represent an extremely rare group of tumors, which are mostly of smooth muscle origin like leiomyomas, leiomyosarcomas and leiomyoblastomas. With the introduction of immunohistochemical analysis an epitheloid and an autonomic nerve variant can be distinguished. The purpose of this review is to demonstrate the image morphological appearance of these rare tumors together with the pathology based upon a retrospective analysis of five of our own cases since 1997. There are no pathognomonic imaging findings for characterizing a gastrointestinal stromal tumor; however, it should be included in the differential diagnosis if one or multiple large, round or ova…
External hernia of the supravesical fossa: Rare or simply misidentified?
2017
Abstract Background External hernias of the supravesical fossa are considered rare, perhaps wrongly. Highlighting clinical and anatomical features could be useful for correct, preoperative diagnosis, thus avoiding the risk of complications such as incarceration. The study aims to demonstrate that the incidence of external protrusions of the supravesical fossa is higher that supposed. Probably, being mistaken for direct hernias, these hernia types are misidentified and not included in current classifications. This issue deserves attention due to the elevated risk of incarceration related to its distinctive structure. Material and methods 249 consecutive open anterior inguinal hernia procedur…