1/1818. Abnormal deposition of type VII collagen in Kindler syndrome.Kindler syndrome is an extremely rare genetic disorder with features of epidermolysis bullosa and poikiloderma congenitale. Approximately 70 cases have been documented in the past 50 years, but only a few investigations of the basement membrane components have been done on these patients. The aim of this study was to examine the components of the basement membrane zone in search of the pathobiological defect(s) responsible for the clinical findings from a female 16-year-old patient diagnosed with Kindler syndrome. This patient also suffered from advanced early-onset periodontal disease. Biopsies were taken from inflamed gingiva and noninflamed oral mucosa as part of periodontal treatment. The basement membrane zone was examined using immunofluorescence microscopy to bullous pemphigoid antigens 1 and 2, collagen types IV and VII, laminins-1 and -5, and integrins alpha3beta1 and alpha6beta4. The biopsies studied revealed blistering with trauma above the level of lamina densa based on distribution of type IV collagen and laminin-1 at the blister floor. In the noninflamed mucosa, discontinuous areas of the basement membrane zone were found. Expression of the basement membrane zone components and the integrins studied appeared otherwise normal with the exception of type VII collagen which was found in abnormal locations deep in the connective tissue stroma. Our results suggest that Kindler syndrome is associated with abnormalities in the construction of the basement membrane, especially in the expression of type VII collagen. These alterations are likely to play a role as etiological factors leading to blister formation and early onset periodontal disease.- - - - - - - - - - ranking = 1keywords = area (Clic here for more details about this article) |
2/1818. Genetic analysis of three patients with an 18p- syndrome and dystonia.Some patients with an 18p- syndrome show dystonia, and a focal dystonia gene has been mapped to chromosome 18p. The authors evaluated the extent of the deletion in three patients with an 18p- syndrome and dystonia using 14 dna markers on 18p. A common deleted area, covering the DYT7 locus, places the putative dystonia gene between the telomere of 18p and D18S1104 (49.6 cM). dystonia in these patients may be caused by haploinsufficiency of the DYT7 gene, a new dystonia gene on 18p, or may result from developmental brain anomalies.- - - - - - - - - - ranking = 1keywords = area (Clic here for more details about this article) |
3/1818. magnetic resonance imaging of acquired Brown syndrome in a patient with psoriasis.PURPOSE: To report the occurrence of acquired Brown syndrome and associated magnetic resonance imaging findings in a patient with psoriasis. methods: A 42-year-old woman with a history of psoriasis developed pain, double vision, and limited elevation of her left eye in adduction. An orbital magnetic resonance image with gadolinium enhancement was obtained. RESULTS: Orbital magnetic resonance image disclosed abnormal enhancement of the left trochlea/tendon complex. The patient's symptoms resolved with corticosteroid therapy. CONCLUSIONS: Acquired Brown syndrome may be associated with psoriasis. The inflammation of the trochlea/tendon complex that can cause acquired Brown syndrome can be demonstrated on magnetic resonance image.- - - - - - - - - - ranking = 4.0808926977989keywords = pain (Clic here for more details about this article) |
4/1818. Wellens' syndrome.We describe a patient with Wellens' syndrome. In view of the large area of myocardium at risk, the importance of recognizing the significance of this ECG pattern is of critical importance for the emergency physician, especially those involved in the evaluation of patients at emergency department chest pain centers. Wellens' syndrome, the criteria for diagnosis, and a discussion of its implications are presented.- - - - - - - - - - ranking = 26.739381134741keywords = chest pain, pain, chest, area (Clic here for more details about this article) |
5/1818. Two similar cases of encephalopathy, possibly a reversible posterior leukoencephalopathy syndrome: serial findings of magnetic resonance imaging, SPECT and angiography.Two young women who had encephalopathy that resembled reversible posterior leukoencephalopathy syndrome are presented. The brain magnetic resonance imaging (MRI) of these patients exhibited similar T2-high signal lesions, mostly in the white matter of the posterior hemispheres. Xe-SPECT during the patients' symptomatic period showed hypoperfusion in the corresponding areas, and angiography demonstrated irregular narrowing of the posterior cerebral artery. Clinical manifestations subsided soon after treatment, and the abnormal radiological findings also were almost completely resolved. Thus, we concluded that transient hypoperfusion followed by ischemia and cytotoxic edema might have had a pivotal role in these cases.- - - - - - - - - - ranking = 1keywords = area (Clic here for more details about this article) |
6/1818. Spatz-Lindenberg disease: a rare cause of vascular dementia.BACKGROUND: Isolated cerebral thromboangiitis obliterans (Spatz-Lindenberg disease) is not well recognized as a cause of vascular dementia. CASE DESCRIPTION: A 58-year-old woman presented with dementia and pyramidal signs. neuroimaging showed multiple areas of white matter change. brain biopsy showed intimal thickening of the walls of leptomeningeal and intraparenchymal arteries, almost to complete occlusion, with an intact internal elastic lamina and media and without inflammation or infiltration. The cortex showed only moderate gliosis. CONCLUSIONS: Spatz-Lindenberg disease should be considered in the differential diagnosis of vascular dementia. Additional studies of its pathogenesis are required to determine appropriate treatment.- - - - - - - - - - ranking = 1keywords = area (Clic here for more details about this article) |
7/1818. Autoerythrocyte sensitization (psychogenic purpura): a case report and review of the literature.Autoerythrocyte sensitization (psychogenic purpura) is an unusual diagnosis, but one that has a characteristic dermatologic manifestation of painful bruising. A typical case is presented, as well as a review of the literature. Treatment consists of psychiatric therapy, which is most effective when initiated early in the disease, so early diagnosis will not only minimize the cost of the medical evaluation but will also benefit the patient.- - - - - - - - - - ranking = 4.0808926977989keywords = pain (Clic here for more details about this article) |
8/1818. prenatal diagnosis of thrombocytopenia absent radius (TAR) syndrome and vaginal delivery.A fetus with bilateral radial aplasia was identified on routine ultrasound. The diagnosis of thrombocytopenia absent radius (TAR) syndrome was confirmed with cordocentesis. The differential diagnosis of radial aplasia and prenatal tests available to assist with management are discussed. cordocentesis offered useful information in the management of this case for both diagnosis and in deciding the route of delivery. We believe our case represents the first prenatal diagnosis of TAR syndrome in which vaginal delivery of a liveborn infant was intentionally allowed. Caesarean delivery may not be necessary for all fetuses diagnosed with TAR syndrome.- - - - - - - - - - ranking = 1keywords = area (Clic here for more details about this article) |
9/1818. The fourth-compartment syndrome: its anatomical basis and clinical cases.We propose a new term, the "fourth-compartment syndrome" to describe chronic dorsal wrist pain of the fourth compartment. Five main causes responsible for this syndrome are thought to be as follows: 1. Ganglion involvement, including an occult ganglion; 2. Extensor digitorum brevis manus muscle; 3. Abnormal extensor indicis muscle; 4. Tenosynovialitis; 5. Anomaly or deformity of carpal bones. Should the above mentioned conditions occur in the fourth compartment, pressure within the fourth compartment increases, ultimately compressing the posterior interosseous nerve directly or indirectly. Anatomical studies of the fourth compartment of the wrist and the posterior interosseous nerve are presented and the fourth-compartment syndrome is summarized with twelve clinical cases (six cases of occult ganglions, two cases of extensor digitorum brevis manus, two cases of tenosynovialitis, one case of abnormal extensor indicis muscle, and one case of carpal bossing).- - - - - - - - - - ranking = 4.0808926977989keywords = pain (Clic here for more details about this article) |
10/1818. Surgical treatment of a case of early infantile epileptic encephalopathy with suppression-bursts associated with focal cortical dysplasia.We report a surgically treated case of early infantile epileptic encephalopathy (EIEE) with suppression-bursts associated with focal cortical dysplasia. Tonic-clonic seizures followed by a series of spasms occurred about a hundred times a day at a few days of age. Interictal electroencephalogram (EEG) revealed a suppression-burst pattern that was predominant in the left hemisphere. magnetic resonance imaging (MRI) suggested focal cortical dysplasia in the left prefrontal area. Combination therapies with antiepileptic treatments showed only partial efficacy. The patient underwent lesionectomy at age 4 months, after which he gradually showed psychomotor development and a decrease of spasms to 0-2 series daily. In cases of EIEE with focal cortical dysplasia, surgical treatment may have beneficial effects on both psychomotor development and seizure control.- - - - - - - - - - ranking = 1keywords = area (Clic here for more details about this article) |
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