Cases reported "Disease Progression"

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1/13. Periodontal treatment of rapid progressive periodontitis in 2 siblings with Papillon-Lefevre syndrome: 15-year follow-up.

    AIMS: This paper reports the treatment of the periodontal component of the Papillon-Lefevre syndrome in 2 siblings (case A, born 1974; case B, born 1976). METHOD: The initial treatment, in 1982, consisted of extraction of all primary teeth, scaling and rootplaning of the erupted permanent teeth and systemic antibiotic therapy. During 15 years, continuous and intensive periodontal treatment consisted of chlorhexidine 0.2% rinses, bi-weekly professional prophylaxis, scaling and rootplaning or surgery if indicated. Systemic antibiotics often accompanied mechanical therapy after bacteriological analysis. RESULTS: In case A, a favourable number of permanent teeth could be maintained, but in case B, all permanent teeth were lost in spite of the intensive treatment. Darkfield microscopy at different intervals revealed high numbers of spirochetes and motile rods in both siblings. Only in case A were they temporarily reduced to zero after scaling and rootplaning combined with metronidazole. Anaerobic cultering revealed high numbers of actinobacillus actinomycetemcomitans (A.a) in both patients. In 1994, 2 years after combined amoxicillin/metronidazole therapy, no A.a could be detected in case A. In case B, A.a could still be detected and was found to be resistant to metronidazole. One year after extraction of all permanent teeth, could no A.a be detected in case B. CONCLUSION: Intensive periodontal treatment combined with antibiotic therapy was not able to prevent complete tooth loss in case B. In case A, the treatment was more effective, resulting in preserving a number of permanent teeth in a stable clinical situation. In these 2 cases, no attempt was made to create an edentulous period between the periodontally-diseased mixed dentition and the eruption of the remaining teeth, which may have contributed to treatment failure.
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2/13. Progressive autosomal dominant optic atrophy and sensorineural hearing loss in a Turkish family.

    PURPOSE: To describe the clinical features, mode of inheritance, and linkage analysis of ten affected members of a three-generation family with progressive optic atrophy and progressive hearing loss. MATERIALS AND methods: The proband, a 10-year-old boy, presented with progressive visual failure. Ten other members in his family, including his mother, half-sister, aunt, two uncles, grandfather, and some of the cousins, also had progressive visual loss and hearing loss. Six affected and four unaffected cases were examined in detail. blood samples were drawn from 16 members for dna extraction. Two loci previously described for optic atrophy were tested for linkage in the present family. RESULTS: The mode of inheritance was clearly autosomal dominant. Six members of the family were found to have progressive optic atrophy and hearing loss, both starting in the first decade of life. Total or red-green color blindness was detected in some patients. None of the members of this family showed evidence of other systemic disorders; however, four had blepharochalasis. No other cause could be found for the hearing or the visual loss. Linkage analysis excluded OPA1 and OPA2. CONCLUSION: The present Turkish family belongs to the group of individuals with autosomal dominantly inherited optic atrophies with hearing loss. Linkage analysis excluded OPA1 and OPA2, indicating that a novel gene defect underlies the disease in this family. Further genome-wide linkage analysis and identification of the disease-associated gene will help define the pathophysiology of this syndrome.
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3/13. Lens opacities after posterior chamber phakic intraocular lens implantation.

    PURPOSE: To describe a case series to determine the incidence of lens opacities after posterior chamber phakic intraocular lens (IOL) implantation (STAAR Surgical, Monrovia, CA) for very high ametropias. DESIGN: Retrospective, noncomparative, interventional case series. PARTICIPANTS: Fourteen eyes of 170 consecutive eyes with high ametropias in whom lens opacities developed after posterior chamber phakic IOL implant (PCPIOL). INTERVENTION: Posterior chamber phakic intraocular lens implant. MAIN OUTCOME MEASURES: Lens opacity appearance, localization, and clinical course. RESULTS: Fourteen eyes developed lens opacities 125 /- 116 days after phakic IOL implant. All eyes had anterior subcapsular opacities, and two eyes also developed nuclear sclerosis. The anterior opacities did not extend posteriorly within the lens, and there were no posterior subcapsular cataracts. Seventy-one percent of opacities were first seen diagnosis was 9.1 /- 6.8 months. Nine of the 14 (64%) opacities were asymptomatic. Two eyes developed nocturnal glare, with no loss of best-corrected visual acuity (BCVA) and one had loss of BCVA. Two additional eyes with both nuclear sclerotic and anterior subcapsular lens opacities had visual symptoms and/or loss of BCVA and underwent phakic IOL explantation, cataract extraction by phacoemulsification, and PCPIOL implant with good visual outcome. In the entire series, 5 of 170 (2.3%) implantations had symptomatic opacities in which 111 implantations were the first or second case of the implanting surgeon. CONCLUSIONS: Lens opacities are a potential complication of phakic IOL implantation. Most lens opacities were first seen in the early postoperative period and were most likely due to surgically induced trauma. The anterior subcapsular type was most common and tended not to be rapidly progressive during the follow-up period. The presence of nuclear sclerotic cataract was visually significant and progressive. Long-term follow-up is warranted to evaluate the rate of progression and course of lens opacities after phakic IOL implant surgery.
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4/13. Multiple idiopathic cervical root resorption: systematic review and report of four cases.

    OBJECTIVES: The objectives of this study were to report four cases of multiple idiopathic cervical root resorption and to systematically review the literature on this condition. methods: The clinical and radiographic findings and the medical/dental histories of four patients who presented with multiple idiopathic cervical root resorption were recorded. Additionally, 10 references from the literature that reported on 14 patients were reviewed. RESULTS: Multiple idiopathic cervical root resorption was an incidental finding on routine clinical and radiographic examination. There appeared to be no correlation between this type of resorption and any medical/dental finding. Radiographically, multiple idiopathic cervical root resorption was found to begin at the cemento-enamel junction and then either progress to involve the entire cervical region or, at some point, spontaneously arrest. Those cases that progressed to involve the entire cervical region required extraction. The number of teeth that demonstrated this condition ranged from 5 to 24 per patient. More teeth became involved as the condition was followed in time. There was no detectable frequency of occurrence for any particular dental region or tooth among the involved teeth. Of a total of 18 patients, 13 were females whose ages ranged from 7 years to 68 years. Ten of the 18 patients were Caucasian. CONCLUSIONS: Multiple idiopathic cervical root resorption was found most frequently associated with younger females. This condition appeared to be of unknown aetiology and uncertain natural history.
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5/13. Progressive depletion of germ cells in a man with nonmosaic Klinefelter's syndrome: optimal time for sperm recovery.

    We describe a sequential deteriorated change of sperm count in a 30-year-old infertile man with nonmosaic Klinefelter's syndrome. His initial semen analysis revealed oligozoospermia; however, the sperm count decreased progressively, which resulted in azoospermia over a period of 3 years. By testicular sperm extraction, a few spermatozoa were recovered. We analyzed the germ cells with three-color fluorescence in situ hybridization, and the presence of a 46,XY lineage was found. We suggest that progressive depletion of germ cells might occur in men with nonmosaic Klinefelter's syndrome and that these men should undergo semen cryopreservation or sperm recovery as early as possible.
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6/13. A case of atypical progressive outer retinal necrosis after highly active antiretroviral therapy.

    This is a report of an atypical case of progressive outer retinal necrosis (PORN) and the effect of highly active antiretroviral therapy (HAART) on the clinical course of viral retinitis in an acquired immunodeficiency syndrome (AIDS) patient. A 22-year-old male patient infected with human immunodeficiency virus (hiv) presented with unilaterally reduced visual acuity and a dense cataract. After cataract extraction, retinal lesions involving the peripheral and macular areas were found with perivascular sparing and the mud-cracked, characteristic appearance of PORN. He was diagnosed as having PORN based on clinical features and was given combined antiviral treatment. With concurrent HAART, the retinal lesions regressed, with the regression being accelerated by further treatment with intravenous acyclovir and ganciclovir. This case suggests that HAART may change the clinical course of PORN in AIDS patients by improving host immunity. PORN should be included in the differential diagnosis of acute unilateral cataract in AIDS patients.
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7/13. Secondary artisan phakic intraocular lens for correction of progressive high myopia in a pseudophakic child.

    An 8-week-old infant underwent unilateral cataract extraction and posterior chamber intraocular lens implantation for total cataract in the left eye. After surgery, a residual progressive myopic error was observed, ranging from -4.5 diopters (D) 6 months after the operation to -14.0 D at the age of 3 years. Because of parental noncompliance for contact lens and spectacles use, secondary implantation of Artisan phakic IOL of -14.0 D power was performed. No intra- or postoperative complications were observed. Nine months after this second operation, myopia diminished to -3.25 D.
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8/13. Rapid onset and progression of posterior capsular opacification.

    Posterior capsular opacification is a common complication following extracapsular cataract surgery. Its time of onset after surgery, rate of development and affect on vision vary greatly from one individual to another. In this case report, we describe the rapid development of posterior subcapsular opacification over a 12-day period. This occurred four years after extracapsular cataract extraction and intraocular lens implantation via the technique of phako-emulsification.
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9/13. A case of high-grade endometrial stromal sarcoma arising from endometriosis in the cul-de-sac.

    This report describes a rare case of high-grade endometrial stromal sarcoma (ESS) arising from pathologically confirmed endometriosis in the cul-de-sac. A 37-year-old woman presented with irregular menstruation, pelvic pain, and diarrhea. magnetic resonance imaging and colon biopsy suggested endometriotic nodule of the cul-de-sac. The tumor size was reduced with hormonal therapy, and the residual tumor was excised, resulting in the pathologic diagnosis of endometriosis. Two years later, a soft mass reappeared with rapid growth. Tumor extraction was performed, and the histopathologic diagnosis was high-grade ESS. Neither hormonal therapy nor chemotherapy was effective, and the patient died 6 months postoperatively. ESS should be included in the differential diagnosis of malignant transformation of endometriosis.
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10/13. Long-term positron emission tomography evaluation of slowly progressive gliomas.

    Non-invasive positron emission tomography (PET) was performed to identify changes in blood flow and metabolism, specific to early stages of tumour occurrence or recurrence. 2 patients with slowly progressive gliomas from early to late stages of tumour development were analysed by serial PET measurements of circulation and metabolism using 15O-gas and 18F-fluorodeoxyglucose. PET revealed a persistent depression of oxygen metabolism, as indicated by the regional oxygen extraction fraction or metabolic rate of oxygen, in the regions where tumours were later found. Abnormal blood flow and metabolism may precede the morphological changes detected by computed tomography (CT) in patients with gliomas.
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