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1.
Recent developments in neurofibromatoses and RASopathies: Management,diagnosis and current and future therapeutic avenues 下载免费PDF全文
Katherine A. Rauen Susan M. Huson Emma Burkitt‐Wright D. Gareth Evans Said Farschtschi Rosalie E. Ferner David H. Gutmann C. Oliver Hanemann Bronwyn Kerr Eric Legius Luis F. Parada Michael Patton Juha Peltonen Nancy Ratner Vincent M. Riccardi Thijs van der Vaart Miikka Vikkula David H. Viskochil Martin Zenker Meena Upadhyaya 《American journal of medical genetics. Part A》2015,167(1):1-10
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OBJECTIVE: To delineate the clinical manifestations of ocular Lyme borreliosis, while concentrating on new symptoms and findings and the phase of appearance of ophthalmologic disorders. DESIGN: Observational case series. PARTICIPANTS: Ten patients with Lyme borreliosis-associated ophthalmologic findings previously reported from the Helsinki University Central Hospital in addition to 10 new cases that have since been diagnosed. INTERVENTION/TESTING: The patients underwent medical and ophthalmologic evaluation. The diagnosis of Lyme borreliosis was based on medical history, clinical ocular and systemic findings, determinations of antibodies to Borrelia burgdorferi by enzyme-linked immunosorbent assay and immunoblot analysis, the detection of DNA of B. burgdorferi by polymerase chain reaction, and exclusion of other infectious and inflammatory causes. MAIN OUTCOME MEASURES: Ocular complaints, presenting ophthalmologic findings, and the stage of Lyme borreliosis were recorded. RESULTS: Four patients presented with a neuro-ophthalmologic disorder, five had external ocular inflammation, 10 patients had uveitis, and one had branch retinal vein occlusion. One patient developed episcleritis and one patient developed abducens palsy within 2 months of the infection incident. In the remaining 14 patients in whom the time of infection was traced, the ocular manifestations appeared in the late stage of Lyme borreliosis. Two patients with a neuro-ophthalmologic disorder and one with external ocular inflammation experienced severe photophobia, whereas the main reported symptom of the patients with uveitis was decreased visual acuity. Four patients with external ocular disease and one with a neuro-ophthalmologic disorder experienced severe periodic ocular or facial pain. Retinal vasculitis developed in seven patients with uveitis. CONCLUSIONS: Lyme borreliosis can cause a variety of ocular manifestations, which develop mainly in the late stage of the disease. Photophobia and severe periodic ocular pain can be characteristic symptoms of Lyme borreliosis. In the differential diagnosis of retinal vasculitis, Lyme borreliosis should be taken into account, especially in endemic areas. 相似文献
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Intratympanic and systemic dexamethasone for Ménière's disease 总被引:1,自引:0,他引:1
Hirvonen TP Peltomaa M Ylikoski J 《ORL; journal for oto-rhino-laryngology and its related specialties》2000,62(3):117-120
Intratympanic and systemic dexamethasone treatment of Ménière's disease (MD) was evaluated in a prospective study. Seventeen patients (6 men and 11 women) with MD (5 right-sided, 11 left-sided and 1 bilateral) were treated with three 0.2- to 0.4-ml injections of intratympanic dexamethasone hyaluronate (16 mg/ml) during a week and with an initial intramuscular dexamethasone injection of 15 mg. Most of patients were in stage 3, and the mean duration of MD was 5. 3 years. Pure-tone and speech audiometry and the symptom scale of the patients were followed up for 1 year after the treatment. Symptoms of aural fullness, hearing loss, tinnitus and vertigo did not improve significantly. However, sufficient control of vertigo was achieved in 76% of the patients. In conclusion, no definite treatment effect has yet been shown for intratympanic and systemic dexamethasone treatment. Therefore, the clinical use of dexamethasone in MD needs further investigation. 相似文献
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Vascular malformations are localized errors of vascular development. They are often identified on the skin as "birthmarks" of various sizes shapes.…… 《中国口腔颌面外科杂志》2008,6(Z1):12
Vascular malformations are localized errors of vascular development. They are often identified on the skin as "birthmarks" of various sizes and shapes. 相似文献
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L. -M. Aaltonen J. Peltomaa H. Rihkanen 《European archives of oto-rhino-laryngology》1997,254(5):219-222
A retrospective study of adult-onset laryngeal papilloma was performed to clarify whether any clinical features at the time of diagnosis could predict its course. All patients had a histologically confirmed diagnosis of laryngeal papillomas and were treated at Helsinki University Hospital between 1975 and 1994. Those with adult-onset disease and follow-up exceeding 1 year (n = 74) entered the study. Based on the case records surveyed, results suggested two risk factors for frequent laryngeal procedures: young age at onset of papilloma and a lesion extending to the anterior third of the vocal folds. It was not possible to predict the course of the disease by such clinical findings as symptoms or size or number of primary papilloma lesions. As regards the recurrence of disease, the classic division of adult-onset laryngeal papilloma into solitary and multiple type was not found to be clinically relevant. 相似文献
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Sillanpää H Lahdenne P Sarvas H Arnez M Steere A Peltomaa M Seppälä I 《International journal of medical microbiology : IJMM》2007,297(1):45-52
Laboratory confirmation of Lyme borreliosis (LB) relies mainly on the demonstration of anti-borrelial antibodies. In recent studies, a novel VlsE protein IR6 peptide-based assay has been introduced. Our aim was to evaluate the IR6 peptides from three Borrelia burgdorferi sensu lato genospecies in the serodiagnosis of European and North American patients. Five VlsE protein IR6 peptide variants representing sequences from B. burgdorferi sensu stricto, B. garinii, and B. afzelii were used as antigens in both IgG and IgM enzyme-linked immunosorbent assays (ELISA). Serum antibodies of 187 patients at different stages of LB from Europe and the United States were evaluated for serodiagnosis. For comparison samples were tested with one of the commercial IR6 ELISAs. Three B. afzelii IR6 variant peptides revealed antibodies that were concordant with each other. B. burgdorferi sensu stricto peptide antibodies mostly paralleled B. afzelii peptide antibodies, and positive values were also obtained in the majority of European sera. For several sera, B. garinii IR6 peptide antibodies were discordant to B. afzelii peptide antibodies. The commercial IR6 peptide antibody assay (C6 ELISA) results correlated better with B. burgdorferi sensu stricto IR6 than with B. garinii IR6 peptide IgG results, especially in sera from patients with facial palsy. Thus, antibody specificity to IR6 peptides may vary according to the infecting Borrelia species. In some manifestations of the disease, C6 ELISA may not cover all LB cases. Evidently, the methodological aspects in ELISA design for peptide antibody measurements are important as well as the amino acids sequence of the antigen. 相似文献
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There is evidence that rigid fixation of zygomaticomaxillary suture enhances the recovery of the infraorbital nerve compared with other means of surgical treatments. There is, however, no agreement as to whether any surgery decreases the number of sensory disturbance in cases with little or no dislocation, or whether infraorbital numbness alone should be considered an indication for surgery. An operation may even increase the edema and hemorrhage around the nerve. This retrospective study was carried out among patients with infraorbital hypesthesia but little or not at all dislocated midfacial fractures. Two special types of trauma patients were selected; those with a blow-out fracture but an intact infraorbital rim (BO) and those with a zygomaticomaxillary complex fracture (ZMC). A questionnaire was sent to the patients (n = 226) 2.2 years (mean) after the accident. There were 128 responses (BO n = 41, ZMC n = 87). Of these, 27 BO and 29 ZMC patients had been treated by observation. An orbital exploration had been carried out in 14 BO patients, and 58 ZMC patients had received malar bone elevation without rigid fixation. At the end of the follow-up period nontreated patients had fewer symptoms than those who had had surgery. This was clearer in the ZCM group (symptom free 69% vs. 52%) than in the BO group (69% vs. 50%). The differences between surgically and nontreated BO or ZMC patients, however, were statistically nonsignificant. According to our findings, exploration of the orbital floor or an attempted elevation of a minimally or nondislocated fracture of the ZMC does not enhance the recovery of the infraorbital nerve. On the contrary, the procedure may itself increase the morbidity and sensory dysfunction. Further studies are needed to determine whether the results could be improved by selective decompression of the infraorbital nerve and a rigid fixation. Received: 22 December 1999 / Accepted: 30 May 2000 相似文献
10.
J. Oksi J. Nikoskelainen H. Hiekkanen A. Lauhio M. Peltomaa A. Pitkäranta D. Nyman H. Granlund S.-A. Carlsson I. Seppälä V. Valtonen M. Viljanen 《European journal of clinical microbiology & infectious diseases》2007,26(8):571-581
Despite rather strict recommendations for antibiotic treatment of disseminated Lyme borreliosis (LB), evidence-based studies
on the duration of antibiotic treatment are scarce. The aim of this multicenter study was to determine whether initial treatment
with intravenous ceftriaxone (CRO) for 3 weeks should be extended with a period of adjunct oral antibiotic therapy. A total
of 152 consecutive patients with LB were randomized in a double-blind fashion to receive either amoxicillin (AMOX) 1 g or
placebo (PBO) twice daily for 100 days. Both groups received an initial treatment of intravenous CRO 2 g daily for 3 weeks,
followed by the randomized drug or PBO. The outcome was evaluated using the visual analogue scale at the follow-up visits.
The final analysis included 145 patients, of whom 73 received AMOX and 72 PBO. Diagnoses of LB were categorized as either
definite or possible, on the basis of symptoms, signs, and laboratory results. The diagnosis was definite in 52 of the 73
(71.2%) AMOX-treated patients and in 54 of the 72 (75%) PBO patients. Of the patients with definite diagnoses, 62 had neuroborreliosis,
45 arthritis or other musculoskeletal manifestations, and 4 other manifestations of LB. As judged by the visual analogue scale
and patient records, the outcome after a 1-year follow-up period was excellent or good in 114 (78.6%) patients, controversial
in 14 (9.7%) patients, and poor in 17 (11.7%) patients. In patients with definite LB, the outcome was excellent or good in
49 (92.5%) AMOX-treated patients and 47 (87.0%) PBO patients and poor in 3 (5.7%) AMOX-treated patients and 6 (11.1%) PBO
patients (difference nonsignificant, p = 0.49). Twelve months after the end of intravenous antibiotic therapy, the levels of antibodies against Borrelia burgdorferi were markedly decreased in 50% of the patients with definite LB in both groups. The results indicate that oral adjunct antibiotics
are not justified in the treatment of patients with disseminated LB who initially receive intravenous CRO for 3 weeks. The
clinical outcome cannot be evaluated at the completion of intravenous antibiotic treatment but rather 6–12 months afterwards.
In patients with chronic post-treatment symptoms, persistent positive levels of antibodies do not seem to provide any useful
information for further care of the patient. 相似文献