Cases reported "Disease Progression"

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1/10. Progression of idiopathic thoracolumbar scoliosis after breast reconstruction with a latissimus dorsi flap: a case report.

    STUDY DESIGN: A report of a patient in whom progressive symptomatic thoracolumbar scoliosis developed after breast reconstruction with a latissimus dorsi myocutaneous flap. OBJECTIVES: To present the first reported case of progressive symptomatic scoliosis after breast reconstruction with a latissimus dorsi myocutaneous flap and to suggest that latissimus flap harvest may be contraindicated in patients with preexisting scoliosis. SUMMARY OF BACKGROUND DATA: Latissimus dorsi myocutaneous flap harvest incorporated into several surgical operations including breast reconstruction has been presented as a relatively benign procedure without significant biomechanical consequence. Nevertheless, various anatomic and animal studies have suggested an important role for balanced latissimus function in terms of proper spinal alignment. Long-term follow-up evaluation of patients after latissimus flap harvest is insufficient and fails to address the specific issue of spinal deformity. methods: Postoperative radiographs demonstrated significant progression of the patient's thoracolumbar scoliosis as compared with radiographs taken before her latissimus harvest. Curve progression accompanied by development of severe and disabling back pain were considered indications for surgical curve correction and stabilization. RESULTS: At the time of 1-year follow-up assessment after posterolateral spinal fusion and instrumentation, the patient had experienced complete relief from her back pain and satisfactory spinal fusion. CONCLUSIONS: Although a cause and effect relation cannot be established, this case study suggests that latissimus harvest may have a destabilizing effect on the thoracolumbar spine in the long term, especially in patients with preexisting scoliosis. Alternative procedures should be considered in these patients.
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2/10. Is epilepsy a progressive disease? The neurobiological consequences of epilepsy.

    While primary, or idiopathic, epilepsies may exist, in the vast majority of cases epilepsy is a symptom of an underlying brain disease or injury. In these cases, it is difficult if not impossible to dissociate the consequences of epilepsy from the consequences of the underlying disease, the treatment of either the disease or the epilepsy, or the actual seizures themselves. Several cases of apparent complications of epilepsy are presented to illustrate the range of consequences encountered in clinical practice and the difficulty in assigning blame for progressive symptomatology in individual cases. Because of the difficulty in interpreting clinical material, many investigators have turned to epilepsy models in order to address the potential progressive consequences of recurrent seizures. The authors review experimental data, mainly from animal models, that illustrate short-, medium-, and long-term morphological and biochemical changes in the brain occurring after seizures, and attempt to relate these observations to the human condition.
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3/10. Localised spontaneous regression in mesothelioma -- possible immunological mechanism.

    Malignant mesothelioma (MM) is an aggressive tumor usually associated with asbestos exposure. Although it can remain stable for prolonged periods, it has not been described to spontaneously regress. MM tumors are thought to be immunogenic based both on animal studies and on the good responses in some humans treated with immunotherapy. Here we present a case of pleural MM in which a transient spontaneous regression was associated with tumor tissue infiltration with mononuclear cells and serological evidence of anti-MM reactivity. The patient's tumor eventually progressed and with this progression there was evidence of loss of serological reactivity to some, but not all, of her MM antigens. The patient survived for 20 months and, in contrast to her initial biopsy, no significant lymphoid infiltrate was detected in her MM tissue at post mortem examination.
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4/10. Percutaneous transcatheter implantation of an aortic valve prosthesis for calcific aortic stenosis: first human case description.

    BACKGROUND: The design of a percutaneous implantable prosthetic heart valve has become an important area for investigation. A percutaneously implanted heart valve (PHV) composed of 3 bovine pericardial leaflets mounted within a balloon-expandable stent was developed. After ex vivo testing and animal implantation studies, the first human implantation was performed in a 57-year-old man with calcific aortic stenosis, cardiogenic shock, subacute leg ischemia, and other associated noncardiac diseases. Valve replacement had been declined for this patient, and balloon valvuloplasty had been performed with nonsustained results. methods AND RESULTS: With the use of an antegrade transseptal approach, the PHV was successfully implanted within the diseased native aortic valve, with accurate and stable PHV positioning, no impairment of the coronary artery blood flow or of the mitral valve function, and a mild paravalvular aortic regurgitation. Immediately and at 48 hours after implantation, valve function was excellent, resulting in marked hemodynamic improvement. Over a follow-up period of 4 months, the valvular function remained satisfactory as assessed by sequential transesophageal echocardiography, and there was no recurrence of heart failure. However, severe noncardiac complications occurred, including a progressive worsening of the leg ischemia, leading to leg amputation with lack of healing, infection, and death 17 weeks after PHV implantation. CONCLUSIONS: Nonsurgical implantation of a prosthetic heart valve can be successfully achieved with immediate and midterm hemodynamic and clinical improvement. After further device modifications, additional durability tests, and confirmatory clinical implantations, PHV might become an important therapeutic alternative for the treatment of selected patients with nonsurgical aortic stenosis.
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5/10. streptococcus zooepidemicus meningitis and bacteraemia.

    Group C streptococci are common causative agents of epidemic infections in animals and a rare cause of meningitis in humans. The case is reported of a 75-y-old man with meningitis caused by a group C streptococcus (streptococcus zooepidemicus). He had frequent contact with horses, which were a possible source of infection. In spite of treatment with a third generation cephalosporin, the outcome was fatal.
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6/10. erythropoietin has an anti-myeloma effect - a hypothesis based on a clinical observation supported by animal studies.

    Recombinant human erythropoietin (rHuEpo) was introduced into clinical practice more than a decade ago, and has been found to be effective in the treatment of several types of anemia, including anemia of end-stage renal failure and cancer-related anemia. No study has suggested that Epo might have an effect on the biology of the disease, nor any survival advantage to cancer patients treated with Epo for anemia has been reported. Here we report six patients with advanced multiple myeloma (MM) with very poor prognostic features, whose expected survival was <6 months. All six patients were treated with rHuEpo for their anemia, either without any chemotherapy or very mild chemotherapy for a short time. Yet, surprisingly they lived for 45-133 months totally from MM diagnosis and 38-94 months with rHuEpo (with a good quality of life). In fact, one patient, is still alive and well, more than 8 yr after chemotherapy was discontinued because of a resistant aggressive disease. The course in these six MM patients led us to hypothesize that Epo might have an antineoplastic or antimyeloma effect. We proceeded and tested that hypothesis in mouse models of myeloma (Mittelman M et al., Proc Natl Acad Sci USA 98:5181,2001). In these models we confirmed that rHuEpo induced tumor regression in about 50% of the BALB/c mice inoculated with MOPC-315 myeloma cells. We then presented evidence that the mechanism is a new immune-mediated phenomenon, via activation of CD8 T cells. Furthermore, evidence from the literature supports the antineoplastic effect of Epo. Epo might be used as an adjunct immune treatment in various malignant diseases, in addition to the current regimens and chemotherapeutic protocols. Future trials should determine the role of Epo in myeloma and cancer treatment, besides clarifying concerns about the presence of Epo receptors on some tumor cells.
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7/10. Impaired allocentric spatial memory underlying topographical disorientation.

    The cognitive processes supporting spatial navigation are considered in the context of a patient (CF) with possible very early Alzheimer's disease who presents with topographical disorientation. Her verbal memory and her recognition memory for unknown buildings, landmarks and outdoor scenes was intact, although she showed an impairment in face processing. By contrast, her navigational ability, quantitatively assessed within a small virtual reality (VR) town, was significantly impaired. Interestingly, she showed a selective impairment in a VR object-location memory test whenever her viewpoint was shifted between presentation and test, but not when tested from the same viewpoint. We suggest that a specific impairment in locating objects relative to the environment rather than relative to the perceived viewpoint (i.e. allocentric rather than egocentric spatial memory) underlies her topographical disorientation. We discuss the likely neural bases of this deficit in the light of related studies in humans and animals, focusing on the hippocampus and related areas. The specificity of our test indicates a new way of assessing topographical disorientation, with possible application to the assessment of progressive dementias such as Alzheimer's disease.
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8/10. Identification of a novel, putative cataract-causing allele in CRYAA (G98R) in an Indian family.

    PURPOSE: The aim of the present study was to investigate the molecular basis underlying a nonsyndromic presenile autosomal dominant cataract in a three-generation pedigree. The phenotype was progressive from a peripheral ring-like opacity to a total cataract with advancing age from teenage to adulthood. The visual impairment started as problem in distant vision at the age of 16 years, to diminishing vision by the age of 24. methods: Clinical interventions included complete ophthalmological examination, a collection of case history, and pedigree details. blood samples were collected from available family members irrespective of their clinical status. A functional candidate gene approach was employed for PCR screening and sequencing of the exons and their flanking regions of CRYGC, CRYGD, and CRYAA genes. For structural consequences of the mutated alphaA-crystallin we used the bioinformatics tool of the ExPASy server. RESULTS: sequence analysis of CRYGC and CRYGD genes excluded possible causative mutations but identified known polymorphisms. Sequencing of the exons of the CRYAA gene identified a sequence variation in exon 2 (292 G->A) with a substitution of Gly to Arg at position 98. All three affected members revealed this change but it was not observed in the unaffected father or sister. The putative mutation obliterated a restriction site for the enzyme BstDSI. The same was checked in controls representing the general population of the same ethnicity (n=30) and of randomly selected dna samples from ophthalmologically normal individuals from the population-based KORA S4 study (n=96). Moreover, the Gly at position 98 is highly conserved throughout the animal kingdom. For the mutant protein, the isoelectric point was raised from pH 5.77 to 5.96. Moreover, an extended alpha-helical structure is predicted in this region. CONCLUSIONS: The G98R mutation segregates only in affected family members and is not seen in representative controls. It represents very likely the fourth dominant cataract-causing allele in CRYAA. In all reported alleles the basic amino acid Arg is involved, suggesting the major importance of the net charge of the alphaA-crystallin for functional integrity in the lens.
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9/10. Cervical root resorption associated with guided tissue regeneration: a case report.

    Root surface resorption, ankylosis (replacement resorption) and alveolar bone resorption are not uncommon sequelae to periodontal healing in both animal and human trials whether the treatment objective is regenerative, preventive, or conservative. The present report describes a case with progressive cervical root resorption in a patient who received periodontal regenerative treatment with guided tissue regeneration (GTR). A 46-year-old woman was referred for treatment of severe periodontitis. Remaining radiographic attachment was less than 50%. Following a period of 18 months, during which non-surgical and surgical therapies were performed, angular defects were diagnosed on radiographs and recurrent bleeding periodontal pockets (6 mm) were found in the proximal areas of 24 and 25. root caries was not present. Periodontal surgery with GTR was performed in this area. No immediate postsurgical complications were noted. Two years later, clinical and radiographic examinations revealed gingival recession with bleeding periodontal pockets (6 mm) which had partly uncovered severe proximal cervical resorptions in 25. Root surface caries was not present. Following surgical inspection, the root of 25 was removed. The root was subsequently prepared for histological analysis. Resorption cavities covered almost the entire cervical proximal surface of the root above intact infracrestal cementum and were covered by numerous CD68 , both mononuclear and multinucleated cells. In a central area as indicated on the radiographs, the cavities penetrated into the root canal. There was no evidence of root caries.
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10/10. Loss of Rb expression in an ACTH-secreting pituitary carcinoma.

    Little is known about the molecular mechanisms of tumor progression in the pituitary. However, animal studies suggest that the Rb gene may be involved in the development of pituitary carcinoma. Pathologic examination of a pituitary tumor that included both benign and malignant components provided insight into this mechanism. Both benign and malignant tumors were immunoreactive for ACTH. The benign adenoma showed strong nuclear immunoreactivity for Rb, however, both the adjacent sellar carcinoma and its metastases were Rb-negative. This study suggests that loss of Rb may in some cases be important in the progression of pituitary adenoma to carcinoma.
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