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121.
Kelsell RE; Evans K; Gregory CY; Moore AT; Bird AC; Hunt DM 《Human molecular genetics》1997,6(4):597-600
We have performed genetic linkage analysis on a four generation British
family with cone-rod dystrophy. Significant linkage to the disease gene was
obtained with eight marker loci situated on chromosome 17p12-p13. A maximum
two-point lod score of 5.93 with no recombination was obtained with marker
locus D17S1844. Critical recombinants identified with flanking marker loci
placed the disease gene between D17S796/D17S938 and D17S954, an interval
estimated to be 8 cM in size. This new localisation for autosomal dominant
cone-rod dystrophy (CORD6) overlaps with regions attributed previously to
Leber's congenital amaurosis, central areolar choroidal dystrophy and
dominant cone dystrophy. Given their differences in phenotype, the most
plausible explanation would be that these different retinal disorders are
caused by mutations in different genes mapping close together within the
genome.
相似文献
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123.
AT Dijkstra IML Majoie JWF van Dongen H van Weelden WA van Vloten 《Journal of the European Academy of Dermatology and Venereology》2001,15(6):550-554
BACKGROUND: Most clinical studies using photodynamic therapy (PDT) with topical application of delta-aminolaevulinic acid (delta-ALA) use red light because it allows greater depth of penetration. However, given the porphyrin-like spectrum of delta-ALA-induced photosensitivity, violet light provides a maximal overlap with the excitation spectrum of protoporphyrin IX, meaning that PDT with violet light uses less light energy to induce the phototoxic reaction. AIM: To study the efficacy of violet light in combination with topical delta-ALA PDT in the treatment of pre-malignant and malignant skin lesions. METHODS: Eight hours after 20% delta-ALA was applied topically, photoirradiation was performed with an incoherent light source (Philips HPM-10, 400 W) emitting predominantly violet light (400-450 nm). Lesions received 10-20 J/cm2 during an exposure time of 30 min. The 38 subjects treated included three with basal cell naevus syndrome with multiple (> 30) superficial and nodular basal cell carcinomas (BCCs), one subject had multiple lesions of Bowen's disease, involving 50% of the scalp, and the remaining 34 subjects presented a total of 35 superficial BCCs, 10 nodular BCCs, four large solar keratoses and five solitary lesions of Bowen's disease. RESULTS: Complete remission both clinically and histologically was seen after a single treatment in 82% of the superficial BCCs (100% after a second treatment), 50% of the nodular BCCs, one of the four solar keratosis lesions (partial remission in the other three) and 90-100% of the solitary lesions of Bowen's disease. CONCLUSIONS: delta-ALA PDT using violet light appears to be a well tolerated and effective alternative treatment for premalignant and malignant skin lesions, especially when there are multiple lesions or large patches comprising a large area of skin. 相似文献
124.
Alies van Lier Nicoline AT van der Maas Gerwin D Rodenburg Elisabeth AM Sanders Hester E de Melker 《BMC infectious diseases》2011,11(1):85
Background
In the Netherlands, incidence of physician's consultations and hospitalizations for varicella is low compared to other countries. Better knowledge about the severity of varicella among Dutch hospitalized patients is needed. Therefore, a medical record research was conducted among hospitalized patients with diagnosis varicella. 相似文献125.
126.
127.
Gomis R Storms F Conget I Sinnassamy P Davies M;AT.LANTUS Study Group 《Diabetes research and clinical practice》2007,77(1):84-91
This study assessed the incidence of severe hypoglycaemia with two insulin glargine titration algorithms: Algorithm 1 (increments of at least 10%, but not exceeding 4U) versus Algorithm 2 (1-6U increments). In this multicenter (n=409), multinational (n=54), open-label, 24-week randomized trial in 2442 subjects with sub-optimally controlled Type 1 diabetes (T1DM), mean prior insulin therapy duration was 14.6+/-10.3 years. The incidence of severe hypoglycaemia was similar with Algorithms 1 and 2 (16.6events/100 patient-years versus 14.4events/100 patient-years). There were similar rates of both symptomatic and nocturnal hypoglycaemia. HbA(1c) and fasting blood glucose (FBG) decreased significantly (baseline to endpoint; p<0.001), and comparably with Algorithms 1 and 2 (HbA(1c): -0.64% versus -0.72%; FBG: -57mg/dL versus -59mg/dL). Mean basal insulin dose increased with both algorithms (+5.7U versus +5.9U). In a diverse population with longstanding T1DM, transfer from any insulin regimen, including basal-bolus or premixed insulin to an insulin glargine-based regimen resulted in significant improvements in glycaemic control, with low rates of severe hypoglycaemia, irrespective of the titration algorithm used. 相似文献
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129.
Madelung1reported33patientswithcervicallipomatosisandLaunoisandBensaude2asthepresenceofmultiplesymmetricalunencapsulatedfata... 相似文献
130.
Collier BD; Johnson RP; Carrera GF; Isitman AT; Veluvolu P; Knobel J; Hellman RS; Barthelemy CR 《Radiology》1985,157(3):795-802
Twenty-seven patients with chronic knee pain were examined prospectively using conventional radiography, radionuclide angiography, planar bone scintigraphy, and single-photon emission computed tomographic (SPECT) bone scintigraphy. When the results of subsequent arthroscopic examination of all three compartments of the knee were correlated with those of the noninvasive methods, SPECT bone scintigraphy was found to be most sensitive for evaluating the extent of osteoarthritis. Differences in detection sensitivity for articular cartilage damage and synovitis were greatest in the patellofemoral compartment. The frequency with which hyperemia was present in association with cartilage damage and synovitis indicates that osteoarthritis of the knee is capable of producing hyperemia and further implies that increased perfusion cannot be used to distinguish with confidence between osteoarthritis and septic processes involving the knee. SPECT (1.00) and planar (0.91) bone scintigraphy were highly sensitive indicators of torn menisci in a subgroup of 14 patients, each having a prearthroscopic clinical diagnosis of a torn meniscus. This result suggests that for patients with chronic knee pain and clinical suggestion of a torn meniscus, bone scintigraphy has significant potential as a high-sensitivity, prearthroscopic screening examination. 相似文献