899 resultados para Familial cases
Resumo:
For the first time in the literature to date, we report 2 cases of transplantation of yeast-infected cardiac allografts. In both cases, endocardial vegetations were observed before graft implantation. Microbiologic samples grew yeasts: Rhodotorula glutinis was found close to the left atrial appendage in the first case and Candida parapsilosis was identified in a vegetation located at the base of the tricuspid valve in the second case. We discuss the possible routes of donor organ infection and management of these 2 unusual cases.
Resumo:
Two patients developed signs of LAV/HTLV-III infection one and two years respectively after a blood transfusion. The leading symptom in one patient was generalized lymphadenopathy, while the other patient presented with Candida stomatitis. In both cases, blood transfusions administered in 1983 were found to be the only possible source of infection; one blood donor of each patient was anti-LAV/HTLV-III positive. Family members and sexual partners of the two were negative for antibodies against LAV/HTLV-III. Our findings document the first two cases of LAV/HTLV-III associated disease most probably related to blood transfusions in Switzerland.
Resumo:
PURPOSE: To report the authors' initial experience with carotid artery stent-grafts in a comparatively large patient series for the treatment of acute bleeding and impending rupture or the prevention of distal embolization. MATERIALS AND METHODS: This retrospective study was approved by the institutional review boards and performed according to HIPPA standards. Twenty-five patients were treated with 27 carotid artery stent-grafts (Gore Viabahn, n = 10; Bard Fluency, n = 9; polytetrafluoroethylene-covered Palmaz, n = 5; and Wallgraft, n = 3). Thirteen stent-grafts were placed in patients with carotid blow-out syndrome (including three patients with carotid-airway fistula), 12 in patients with either pseudoaneurysm (n = 9) or true aneurysm (n = 3), and two in patients with intractable high-grade bare stent restenosis. RESULTS: The technical success rate was 100% (27 of 27 cases). No acute procedural transient ischemic attacks or strokes occurred. Procedural dissections occurred in two of the 27 cases (7.4%). Short-term complications occurred in three of the 27 cases (11%) (repeat hemorrhage, n = 2; common carotid artery occlusion, n = 1). The overall patient mortality rate was 36% (nine of 25 patients, all with carotid blow-out syndrome). Six-month follow-up in 15 of the 16 living patients demonstrated widely patent stent-grafts. Two patients with pseudoaneurysm also demonstrated patent stents at 18- and 33-month follow-up. CONCLUSIONS: Stent-grafts may be useful in the treatment of carotid artery bleeding syndrome, aneurysm, and stenosis, with a high procedural success rate in selected cases. The results of mid-term follow-up are encouraging, but results of long-term follow-up must be evaluated in future studies.
Resumo:
BACKGROUND AND PURPOSE: No controlled, randomized trial has investigated whether intravenous, intra-arterial (IAT), or mechanical thrombolysis is beneficial in children with ischemic stroke. We report 2 children who underwent IAT for acute ischemic stroke and include them in a review about intravenous thrombolysis, IAT, and mechanical thrombolysis for childhood stroke. METHODS: We searched in MEDLINE and EMBASE for studies that reported on treatment of childhood stroke with intravenous thrombolysis, IAT, or mechanical thrombolysis in the presence of occlusion of the basilar artery, sphenoidal, or insular middle cerebral artery. To be included in this review, the following findings had to be reported: (1) stroke severity at presentation; (2) cerebral imaging findings before thrombolysis; (3) time to treatment; (4) dose of the thrombolytic agent; (5) pre- and postinterventional angiographic findings in IAT; and (6) outcome assessed at hospital discharge or within 12 months after thrombolysis. RESULTS: Adequate data were available in 17 children (including our 2 own cases) who underwent intravenous thrombolysis (n=6), IAT (n=10), or mechanical thrombolysis (n=1). No symptomatic intracranial hemorrhage occurred, but 2 asymptomatic intracranial hemorrhages were present. Sixteen children (94%) survived, and 12 (71%) had a good outcome (modified Rankin Scale score 0 or 1). CONCLUSIONS: The available data about thrombolysis in pediatric stroke are limited. They suggest that this treatment may be beneficial in children with ischemic stroke. Controlled, randomized trials are needed to determine whether thrombolysis is useful in childhood stroke.
Resumo:
BACKGROUND: Staphylococcus lugdunensis endocarditis has been associated with an aggressive course. The aim of this study was to determine factors associated with the development of endocarditis in patients with S. lugdunensis bacteremia. METHODS: A retrospective analysis of all patients with S. lugdunensis bacteremia in three tertiary care centers in Switzerland was performed. Data regarding medical history, symptoms, and susceptibility of S. lugdunensis isolates were collected. Our results were reviewed in the context of the current literature. RESULTS: A total of 28 patients with S. lugdunensis bacteremia were identified. Of the 13 patients with endocarditis, all were community acquired. Cardiac surgery was performed in 85% of these patients; mortality was 23%, reflecting the aggressive course of this disease. In contrast, in the 15 patients without endocarditis, no complications associated with S. lugdunensis bacteremia were observed. In 73%, a probable source was identified in the form of a venous catheter or other foreign device. Only three of these episodes were community acquired. No difference was observed in susceptibility of the S. lugdunensis isolates to penicillin, which was 77% in endocarditis isolates, and 87% in isolates of bacteremia without endocarditis, respectively. CONCLUSION: S. lugdunensis bacteremia is associated with endocarditis in up to 50% of patients. Every patient with community-acquired S. lugdunensis bacteremia should be carefully examined for signs of endocarditis. Once S. lugdunensis endocarditis is diagnosed, close monitoring is essential and surgical treatment should be considered early. In the nosocomial setting, endocarditis is far less frequent, and S. lugdunensis bacteremia is usually associated with a catheter or other foreign materials.
Resumo:
PURPOSE: The transcription factor CCAAT/enhancer binding protein-alpha (CEBPA) is crucial for normal myeloid differentiation. Mutations in the CEBPA gene are found in subsets of patients with acute myeloid leukemia (AML). Recently, three families were reported in whom several family members had germline CEBPA mutations and subsequently developed AML. Whereas familial AML is considered a rare event, the frequency of CEBPA germline mutations in AML is not known. PATIENTS AND METHODS: In this study, we screened 187 consecutive AML patients for CEBPA mutations at diagnosis. We detected 18 patients (9.6%) with CEBPA mutations. We then analyzed remission samples and constitutive DNA from these patients. RESULTS: We found that two (11.1%) of 18 AML patients with CEBPA mutations carried a germline N-terminal frameshift CEBPA mutation. Interestingly, additional members in the families of both of these patients have been affected by AML, and the germline CEBPA mutations were also observed in these patients. Additional somatic mutations in AML patients with germline CEBPA mutations in the two families comprised in-frame C-terminal CEBPA mutations in two patients, two nonsilent CEBPA point mutations in one patient, and monosomy 7 in one patient. CONCLUSION: This study shows, for the first time to our knowledge, that germline CEBPA mutations are frequently observed among AML patients with CEBPA mutations. Including the families with germline CEBPA mutations reported previously, additional somatic CEBPA mutations represent a frequent second event in AML with germline CEBPA mutations. Our data strongly indicate that germline CEBPA mutations predispose to AML and that additional somatic CEBPA mutations contribute to the development of the disease.
Resumo:
This dissertation seeks to contribute to film, feminist and Latino/a studies by exploring the construction and ideological implications of representations of Latinas in four recent, popular U.S. films: Girlfight (Kusama 2000), Maid in Manhattan (Wang 2002), Real Women Have Curves (Cardoso 2002) and Spanglish (Brooks 2004). These films were released following a time of tremendous growth in the population and the political and economic strength of the Latina/o community as well as a rise in popularity and visibility in the 1990s of entertainers like Selena and actresses such as Jennifer Lopez and Salma Hayek. Drawing on the critical concepts of hybridity, Latinidad, and Bakhtinian dialogism, I analyze these films from a cultural and historical perspective to consider whether and to what degree, assuming changes in the situation of Latinas/os in the 1990’s, representations of Latinas have also changed. Specifically, in this dissertation I consider the ways in which the terrain of the Latina body is articulated in these films in relation to competing societal, cultural and familial conflicts, focusing on the body as a site of struggle where relationships collide, interact and are negotiated. In this dissertation I argue that most of the representations of Latinas in these films defy easy categorization, featuring complex characters grappling with economic issues, intergenerational differences, abuse, mother-daughter relationships, notions of beauty, familial expectations and the very real tensions between Latina/o cultural beliefs and practices and the dominant Anglo culture of the United States. Specifically, I argue that narrative and visual representation of Latina bodies in these films reflects a change in the Latinas offered for consumption to film viewers, presenting us with what some critics have called ‘emergent’ Latinas: conflicted and multilayered representations that in some cases challenge dominant ideologies and offer new demonstrations of Latina agency.
Resumo:
BACKGROUND: Congenital retinal macrovessels are large aberrant branches of retinal arteries or veins that cross the macula. We present three patients with a unilateral congenital retinal macrovessel and we conduct a review of the literature. PATIENTS AND METHODS: A 22-year-old man complaining of chronic headache as well as two other men, 18 and 23 years old, respectively, during a routine ophthalmological examination, were found with a unilateral congenital retinal macrovessel each. A thorough ophthalmological examination was performed, including colour fundus photography in all three patients and fluorescein angiography in two of the patients. We followed them up for five years. THERAPY AND OUTCOME: Investigation revealed a unilateral venous congenital retinal macrovessel in all patients. Clinical findings and visual acuity remained unchanged throughout the entire follow-up period. No complications were recorded. CONCLUSIONS: Congenital retinal macrovessels are rare and they tend to remain stable. Visual acuity is preserved in most cases. Complications occur only occasionally and have been described in the literature. Differential diagnosis from other arteriovenous malformations affecting multiple organs is necessary.
Resumo:
The S218L CACNA1A mutation has been previously described in two families with familial hemiplegic migraine. We present three siblings with the mutation with the novel association of childhood seizures, and highlight the dynamic changes seen on electroencephalography during hemiplegic migraine attacks. Depressed activity contralateral to the hemiparesis was seen on electroencephalography during acute hemiplegic migraine attacks, which may be due to changes to calcium channels caused by the S218L mutation. Both parents were asymptomatic and did not carry the S218L mutation in their blood. This suggests the presence of mosaicism in the transmitting parent.
Resumo:
With expanding travel activities, visceral leishmaniasis increasingly occurs in non-endemic areas and affects immunocompetent individuals with no other risk factor than holidays at the Mediterranean coast. We report 3 instructive Swiss cases of visceral leishmaniasis presenting with fever of unknown origin and pancytopenia and review current diagnostic and therapeutic concepts.
Resumo:
INTRODUCTION: This report of 2 cases describes the diagnostic procedures used to identify 2 Stafne's bone cavities (SBC) found in unusually anterior locations in the mandible, both mimicking periapical lesions of endodontic origin. METHODS: In the first patient, a 47-year-old man, an SBC was diagnosed in the area of teeth #27, 28, and 29. In the second patient, a 62-year-old man, the SBC was a fortuitous finding, because this patient was referred for dental implant therapy. RESULTS: In both cases, the final diagnosis was achieved by using limited cone beam computed tomography (CBCT) and magnetic resonance imaging (MRI). In both patients, the lingual bone cavity was found to be occupied by accessory salivary gland tissue. CONCLUSIONS: The combination of CBCT and MRI as noninvasive diagnostic techniques seems ideal to avoid surgical explorations, incisional biopsies, or enucleations of the lesion for diagnostic purposes.