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排序方式: 共有183条查询结果,搜索用时 0 毫秒
91.
Two Pakistani siblings with L-2-hydroxyglutaric aciduria are reported herein. A 6-year-old male and a 2-year-old female, born to consanguineous parents, had chronic slowly progressive neurodegenerative disorder with insidious onset after infancy. Mental regression and seizures were evident in both patients, whereas cerebellar dysfunction was the main motor handicap in the male and pyramidal symptoms were prominent in the female. Magnetic resonance imaging revealed bilateral symmetrical abnormal signal in the subcortical white matter, internal and external capsules, basal ganglia, and dentate nuclei. The underlying metabolic defect, which is likely inherited in an autosomal recessive mode, remains unknown in this disorder. 相似文献
92.
93.
Congenital insensitivity to pain with anhidrosis is an autosomal-recessive disorder resulting from defective neural crest differentiation with loss of the first-order afferent system, which is responsible for pain and temperature sensation. There is also a neuronal loss in the sympathetic ganglia. Lack of sweating, hyperthermia, and infections of bones are main features of the disorder; however, contradictory results have been published regarding eccrine sweat gland innervation. A 5-year-old male patient with typical clinical manifestations of congenital insensitivity to pain with anhidrosis is presented. Immunohistochemistry with antibodies against S100 protein and neuron-specific enolase failed to reveal nerve fibers in the vicinity of the eccrine sweat glands. The roles of the nerve growth factor and tyrosine kinase receptor gene mutations in the pathogenesis of the disease are also discussed. 相似文献
94.
Czechowski J Nork M Haas D Lestringant G Ekelund L 《Acta radiologica (Stockholm, Sweden : 1987)》2001,42(1):24-26
Purpose: To report features of mycetomas (actino- and eumycetoma infection), which belong to the so-called rare bone infections, as evaluated by MR and other imaging methods and to assess chemotherapy treatment.Material and Methods: Twenty patients (average age 57 years) were diagnosed by different modalities. Analyses of 57 plain films, 31 three-phase bone scans, 28 CT and 35 MR examinations were performed. The MR protocol included T1-weighting without and with contrast, T2-weighted, proton density and fat suppressing sequences.Results: Signs of chronic osteomyelitis were seen in plain films of 10 patients (50%), but the healing process was difficult to assess. Bone scintigraphy was positive in 12 patients (60%). In 14 patients (70%), CT could demonstrate bone lesions, but the healing process was difficult to estimate in 4 patients. MR imaging provided accurate diagnostic information in 15 cases (75%). In 16 patients (80%), small lesions could be identified due to grains, which seemed to differentiate mycetoma from other infections and tumorous lesions. MR examination gave definitive answer about the healing process in 18 cases (90%).Conclusion: MR investigation was superior to the other imaging techniques in the evaluation of mycetoma and the assessment of therapy. 相似文献
95.
ERIK HGG KJELL ASPLUND STURE ERIKSSON FOLKE LITHNER TAGE STRAND PER OLOV WESTER 《Journal of internal medicine》1986,219(1):53-58
ABSTRACT. A thyrotropin-releasing hormone (TRH) test with serum thyroid-stimulating hormone (TSH) assays was performed in 22 euthyroid stroke patients without thyroid disease and the results were compared with those in 17 age-matched euthyroid controls. Basal and maximum TSH levels after TRH injeciton were significantly lower in the stroke group without elevation of basal serum thyroid hormone levels. There was a tendency towards an inverse relationship betweeen TSH levels and the degree of pareses of the extremities. The test was repeated in 7 stroke patients 3–4 months after the onset of stroke with essentially the same results. The abnormal TSH parameters in stroke patients seem to be the result of the brain lesion per se. 相似文献
96.
PER ANDERSSON WIESLAW DUBIEL EBBA ENGHOFF G
RAN FRIMAN ANDERS HGG SVEN-OLOF NYSTR
M TORKEL BERG 《Journal of internal medicine》1986,219(3):275-282
ABSTRACT. One-hundred-and-thirteen patients with endocarditis and valvular insufficiency were studied retrospectively with special regard to indications for operation and the optimum time for cardiac valve surgery. Thirty patients (group I) had acute, 63 (group II) subacute and 20 (group III) prosthetic valve endocarditis. Group I: Eleven patients underwent surgery in the acute stage, 8 while bacteremic; 5 of the latter died perioperatively. Of the 19 patients treated medically, 16 died. Group II: All patients underwent operation in a bacteria-free state. The mortality was 5%. Group III: Eight patients had early (<60 days postoperatively) and 12 late endocarditis. Total mortality was 40% (71 % early and 25% late mortality). Ten patients underwent reoperation, with a mortality of 20%, compared with 60% in the medically treated group. The results support the indication for early operation in acute endocarditis with progressive cardiac failure and renal failure and prosthetic valve endocarditis, even during bacteremia. 相似文献
97.
Vitamin K in preterm breastmilk with maternal supplementation 总被引:1,自引:0,他引:1
S Bolisetty JM Gupta GG Graham C Salonikas D Naidoo 《Acta paediatrica (Oslo, Norway : 1992)》1998,87(9):960-962
Six healthy lactating mothers who gave birth to preterm infants at a median post conceptional age of 29.5 (range 26-30) weeks were given 2.5 mg phylloquinone (vitamin K1) orally daily for 2 weeks beginning at a median postconceptional age of 31.5 (range 28–32) weeks. Phylloquinone was measured in the breastmilk daily for 14 d. Trough plasma phylloquinone concentrations were also determined on four occasions. Phylloquinone levels in the breastmilk increased from a baseline of 3 ± 2.3ngml-1 to 22.6 ± 16.3 ng ml-1 (mean ± SD) after the first dose ( p < 0:05); a gradual increase was noted until phylloquinone levels reached a plateau of 64.2 ± 31.4ng ml-1 after the sixth daily dose. 相似文献
98.
Summary. A 1-year study was conducted on 151 patients with finger- or toenail disease attending a dermatology clinic in Al Ain, United Arab Emirates. Nail scrapings and or clippings were collected and investigated with a KOH preparation for direct microscopy and cultured for fungi. Eighty-nine (59%) patients were females. Most females (62%) presented with fingernail disease while in men the toenails were involved in 76%. Fungi were isolated in 78 (52%) of all cases and the fingernails were more commonly positive than toenails. Of the 78 isolates, 49 (63%) were yeasts, including eight Candida species, dermatophytes accounted for 22 (28%) and seven (9%) were other moulds. Non-dermatophyte moulds constituted 20% of male isolates but only 4% of female isolates. Eighty-one per cent of Candida species were from fingernails, while 87% of all the dermatophytes were from toenails.
Zusammenfassung. Die vorgelegte Einjahresstudie unfaßt 151 Patienten mit Nagelerkrankungen in AL-AIN, Vereinigte Arabische Emirate. Nagelabschabsel oder -abschnitte wurden mikro-skopisch im KOH-Präparat und kulturell auf Pilze untersucht. Der Anteil der Frauen unter den Patienten überwog mit 59%. Unter den Frauen zeigten sich bei 62% die Fingernägel befallen, während bei Männern zu 76% die Zehennägel erkrankt waren. Pilze wurden bei 78 Patienten (52%) isoliert, und Fingernägel waren häufiger positiv als Zehennägel. Von 78 Isolaten waren 49 (63%) Hefen, die 8 Candida -Arten umfaßten. Dermatophyten wurden bei 22 Patienten (28%) und nichtkeratinophile Schimmelpilze bei 7 Patienten (9%) gefunden. Letztere machten 20% der Isolate bei Männern, aber nur 4% der Isolate bei Frauen aus. 81% der Candida -Arten wurden von Fingernägeln und 87% aller Dermatophyten von Zehennägeln isoliert. 相似文献
Zusammenfassung. Die vorgelegte Einjahresstudie unfaßt 151 Patienten mit Nagelerkrankungen in AL-AIN, Vereinigte Arabische Emirate. Nagelabschabsel oder -abschnitte wurden mikro-skopisch im KOH-Präparat und kulturell auf Pilze untersucht. Der Anteil der Frauen unter den Patienten überwog mit 59%. Unter den Frauen zeigten sich bei 62% die Fingernägel befallen, während bei Männern zu 76% die Zehennägel erkrankt waren. Pilze wurden bei 78 Patienten (52%) isoliert, und Fingernägel waren häufiger positiv als Zehennägel. Von 78 Isolaten waren 49 (63%) Hefen, die 8 Candida -Arten umfaßten. Dermatophyten wurden bei 22 Patienten (28%) und nichtkeratinophile Schimmelpilze bei 7 Patienten (9%) gefunden. Letztere machten 20% der Isolate bei Männern, aber nur 4% der Isolate bei Frauen aus. 81% der Candida -Arten wurden von Fingernägeln und 87% aller Dermatophyten von Zehennägeln isoliert. 相似文献
99.
100.
Lestringant GG Masouyé I El-Hayek M Girardet C Révész T Frossard PM 《Dermatology (Basel, Switzerland)》2000,200(2):147-150
We report an unusual case of congenital leukemia with leukemia cutis (LC) and diffuse calcinosis cutis. A newborn girl presented with widespread dusky red and yellowish cutaneous nodules and papules. Bone marrow morphology was consistent with the diagnosis of acute monocytic leukemia of the FAB M5 type. Skin biopsy specimens confirmed the presence of a leukemic infiltrate and revealed calcium salt deposition in the papillary and reticular dermis. Calcinosis was diffuse in the whole skin but spared other organs. Vascular calcification was not present. Serum calcium levels oscillated between 2.5 and 2.86 mmol/l, and phosphorus, parathyroid hormone and 25-hydroxyvitamin D(3) levels were normal. There were diffuse osteoporosis and spontaneous fractures of small tubular bones. The patient responded to chemotherapy but, following consolidation treatment, developed sepsis and died at 120 days of age. Congenital leukemia is rare and LC is uncommon. Hypercalcemia may be a complication of leukemia, which leads to multiorgan metastatic calcification. Despite the absence of frank hypercalcemia, the presence of bone lesions suggests that the patient's calcinosis cutis was of the metastatic type. However, the cutaneous leukemic infiltrate may also represent a triggering factor for calcium deposition in the skin. 相似文献