11/428. Juvenile Parkinson's disease with rem sleep behavior disorder, sleepiness, and daytime REM onset.We describe an unmedicated patient with juvenile PD with difficulties maintaining wakefulness and the atonia of REM sleep. Laboratory testing showed enhanced muscle activity in REM sleep consistent with a history of dream enactment behavior (i.e., rem sleep behavior disorder) and daytime sleepiness, and REM-sleep onsets on multiple sleep latency testing. The results emphasize the potential role of dopamine and basal ganglia circuits in the modulation of activated behavioral states (e.g., wakefulness and REM sleep).- - - - - - - - - - ranking = 1keywords = disease (Clic here for more details about this article) |
12/428. Nystagmus mimicking spasmus nutans as the presenting sign of bardet-biedl syndrome.PURPOSE: To investigate the nystagmus of twin brothers presenting with spasmus nutans later diagnosed as bardet-biedl syndrome. methods: The twins presented at the age of 14 months with a presumed diagnosis of spasmus nutans. They were followed clinically and with quantitative electro-oculographic eye movement recordings until the age of 6 years. RESULTS: polydactyly, truncal obesity, mild delay in cognitive development, visual acuity of 20/100, attenuated retinal vessels and pale disks, and bilaterally almost extinguished scotopic and photopic electroretinograms were found in both brothers. They had fine, fast, pendular, disconjugate, intermittent, oblique nystagmus. No head nodding was observed. CONCLUSION: As described in patients with other retinal diseases such as achromatopsia and congenital stationary night blindness, nystagmus of patients with bardet-biedl syndrome can mimic spasmus nutans.- - - - - - - - - - ranking = 0.25keywords = disease (Clic here for more details about this article) |
13/428. Intracranial malposition of a nasogastric tube following repair of choanal atresia.Intracranial penetration during attempted nasogastric intubation is a rare, often lethal occurrence. We report the inadvertent introduction of a nasogastric tube intracranially in a neonate following repair of unilateral choanal atresia. Following manual removal of the tube, the patient made a good recovery.- - - - - - - - - - ranking = 0.0018349424699179keywords = tube (Clic here for more details about this article) |
14/428. Comparing periodontal disease in identical twins: a case report.Previous investigators have shown that numerous environmental and genetic variables may contribute to the pathogenesis of periodontal disease. This case report presents clinical and laboratory findings of a set of Caucasian female identical twins. One patient presented clinically with mild gingivitis and no clinical or radiographic signs of periodontitis. The other exhibited gingivitis with localized, moderate-to-severe periodontitis. Neither patient reported a history of systemic conditions that might influence their periodontal health, and neither presented other known risk factors, such as tobacco use. The only apparent variable was related to their oral hygiene. The periodontally involved patient exhibited higher plaque scores than her twin in all clinical visits. Subgingival plaque cultures revealed the presence of porphyromonas gingivalis and bacteroides forsythus only in the diseased twin. Both patients had low colony counts of prevotella intermedia and eikenella corrodens, but only the healthy twin harbored small quantities of fusobacterium nucleatum. This case report offers an opportunity to assess etiology of periodontitis in two genetically identical patients whose only obvious difference was their oral hygiene.- - - - - - - - - - ranking = 1.5keywords = disease (Clic here for more details about this article) |
15/428. The prophylaxis of acute rheumatic fever in a pair of monozygotic twins. The public health implications.Recurrent acute rheumatic fever and rheumatic heart disease can be prevented by antibiotic intervention. We report the case of genetically identical twins, one of whom had overt rheumatic fever, received penicillin prophylaxis and did not have rheumatic heart disease. The other must have had inapparent rheumatic fever, received no chemotherapy prophylaxis and proceeded to develop rheumatic heart disease. A greater clinical and laboratory vigilance is required for the diagnosis of acute rheumatic fever in the asymptomatic identical twin of a patient with rheumatic fever. This case provides further evidence of a genetic predisposition to rheumatic fever and demonstrates the continued value of penicillin in the prophylaxis of acute rheumatic fever. It emphasises the need to maintain the integrity of preventive programmes against rheumatic fever worldwide. Studies which explore the HLA and other genetic linkages with rheumatic fever should be encouraged.- - - - - - - - - - ranking = 0.75keywords = disease (Clic here for more details about this article) |
16/428. Paget's disease in identical twins.Paget's disease of bone was found in each of elderly monozygotic twin sisters. Apart from the skull, which was affected in each twin, different bones were involved by Paget's disease. This is the fifth pair of identical twins reported with Paget's disease of bone.- - - - - - - - - - ranking = 1.75keywords = disease (Clic here for more details about this article) |
17/428. A 5-year review of recurrent group B streptococcal disease: lessons from twin infants.Recurrent invasive disease due to group B streptococcus (GBS) in twin infants has not been reported. We report 2 cases of recurrent GBS afflicting both siblings of a set of dichorionic twin infants. The maternal and infant colonizing and invasive strains were identical by serotyping and pulsed-field gel electrophoresis (PFGE). Despite attempts at eradication with different antibiotic regimens, the infants remained colonized after treatment of the second episode. A 5-year review of recurrent invasive GBS disease in infants in our affiliated hospitals was undertaken, and 6 further cases were identified. serotyping and PFGE of isolates from initial and second episodes were genotypically identical for each case. Three infants each had GBS serotype Ia or V disease and 2 had GBS serotype III disease. The exact pathogenesis of recurrent GBS disease remains unclear, but our data support the hypothesis that persistent mucosal colonization with the original GBS strain rather than new acquisition is a pivotal factor in disease recurrence.- - - - - - - - - - ranking = 2.5keywords = disease (Clic here for more details about this article) |
18/428. Ovarian hyperthecosis in the setting of portal hypertension.Hepatocellular dysfunction and perturbed portal hemodynamics alter steroid metabolism. Men with liver disease have gynecomastia, although women similarly affected rarely show virilization. We report a 10-yr-old girl with portal hypertension and shunting associated with precocious puberty and ovarian hyperandrogenism. This was one of premature twin girls; neither had clitoromegaly or genital ambiguity. In one child, neonatal respiratory problems led to umbilical vein catheterization with subsequent development of portal hypertension. Pubic hair was first noted at age 6 yr, breasts at 7 yr, and severe acne and clitoromegaly at 10 yr. Baseline sex hormones were elevated: androstenedione (A), 413 ng/dL; testosterone (T), 226 ng/dL; and estradiol (E2), 160 pg/mL. liver transaminases were within the normal range, however, the coagulation profile was mildly abnormal. cosyntropin adrenal stimulation revealed no steroidogenic defect. dexamethasone suppression reduced A and T slightly. LH-releasing hormone stimulation produced a pubertal rise in LH and FSH. Pelvic sonography showed a large right ovary with numerous follicles. Surgical exploration revealed symmetrically enlarged ovaries with dense capsules. histology of ovarian wedge resections showed hyperthecosis; immunohistochemistry showed stromal cells expressing steroidogenic enzymes and proteins. One month postoperatively, A and T were unchanged from baseline, whereas E2 decreased to 56 pg/mL. A single dose of depot leuprolide acetate significantly reduced T. Subsequent treatment with oral contraceptives reduced T to 50 ng/dL, and cyclical menses occurred. We conclude that precocious puberty and ovarian hyperthecosis were induced in this young girl by elevated circulating levels of sex hormones, a consequence of portasystemic shunting and impaired hepatic steroid metabolism.- - - - - - - - - - ranking = 0.25keywords = disease (Clic here for more details about this article) |
19/428. Coarctation of the aorta in dizygotic twins.The incidence of congenital heart disease is higher in monozygotic than dizygotic twins, with a higher concordance rate. Although coarctation of the aorta has previously been reported in monozygotic twins, to the best of our knowledge it has not been described in dizygotic twins. We report here such a concurrence in dizygotic twins conceived by in-vitro fertilisation. The finding provides support for both genetic and environmental factors in the aetiology of congenital heart disease. Furthermore, it highlights our lack of data regarding the outcome of in-vitro fertilisation.- - - - - - - - - - ranking = 0.5keywords = disease (Clic here for more details about this article) |
20/428. Bilateral juxtafoveolar telangiectasis in monozygotic twins.PURPOSE: To report the clinical and angiographic features of two monozygotic twins affected by bilateral group 2 idiopathic juxtafoveolar telangiectasis. METHOD: case reports. RESULTS: Two 64-year-old women, who were identical twins, were suffering from visual loss. One twin had suffered from visual loss for 1 year and had a visual acuity of 20/25 in both eyes, and the other twin had suffered for 2 years and had a visual acuity of 20/30 in both eyes. fluorescein angiography disclosed similar fundus features. An analogous area of capillary telangiectasis and leakage was observed in the right macula, where no intraretinal pigment was seen; the left macula showed a similar amount of intraretinal pigment associated with tiny right-angle venules and minimal leakage. CONCLUSION: This observation raises the issue of genetic influences in the pathogenesis of this disease.- - - - - - - - - - ranking = 0.25keywords = disease (Clic here for more details about this article) |
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