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We describe a rare case of progressive osseous heteroplasia of the face in a child. Biopsy showed osteoma cutis superficially with ectopic bone formation in the deeper tissues including skeletal muscle. Analysis of DNA from peripheral blood leukocytes showed mutations in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase (GNAS1), confirming the diagnosis of progressive osseous heteroplasia.  相似文献   
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Postdoctoral training has become an increasingly more standardroute for training in all of the biomedical sciences. Pediatricpsychology, as a relatively new subspecialty within clinicalchild psychology, has emerged principally from training programsat the internship and postdoctoral level. The postdoctoral trainingprograms in pediatric psychology known to be available are brieflyreviewed, their characteristics discussed, and then the experienceof the Oklahoma University Health Sciences Center postdoctoraltraining program is reviewed in detail.  相似文献   
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A case with 46, XX, del (11) (q21)   总被引:2,自引:0,他引:2  
The cytogenetic analysis of a child with unspecific dysplastic signs revealed the karyotype: 46, XX, del(11) (q21). Two hypotheses could explain the mild phenotypical expression of this deletion:
1) The material of the deficient part of chromosome 11 is genetically inert or redundant (which seems unlikely);
2) "Gene-dosis-compensation" occurs for the loss of genes on the deficient part of chromosome 11.  相似文献   
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Cicatricial conjunctivitis may be a sequel to systemic disorders (eg, Stevens-Johnson syndrome, cicatricial pemphigoid) or local disorders such as chemical burns. The cicatrisation is often associated with corneal epithelial changes that cause visual loss. These have been attributed to encroachment of the conjunctival epithelium over the cornea. However, the epithelial anomalies are poorly understood. We investigated the corneal epithelial changes in cicatricial conjunctivitis with an immunohistochemical study of intermediate filaments in normal and pathological specimens. Our results show that the normal corneal epithelium is immunoreactive for cytokeratin 3 (CK 3) but not cytokeratin 19 (CK 19), whereas normal conjunctival epithelium is CK 3 negative and CK 19 positive. Conjunctiva artificially transposed over the cornea (after therapeutic conjunctival flap reconstruction) retained the normal pattern of conjunctival cytokeratin expression (CK 3 negative, CK 19 positive). Conversely, the entire corneal epithelium exhibited the normal cytokeratin pattern (CK 3 positive, CK 19 negative) in 82% of Stevens-Johnson, 80% of cicatricial pemphigoid, and 69% of chemical burns specimens. The findings suggest that conjunctival encroachment is not responsible for the changes at the corneal surface in cicatricial conjunctivitis and that the abnormal corneal epithelium is derived from native corneal cells in these diseases.  相似文献   
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李承青  彭德民  王彩霞 《医学争鸣》2000,21(12):1439-1439
0 引言 急性乳腺炎是产后妇女的常见病 .我们采用针头挑拨治疗急性乳腺炎 32例 ,疗效显著 .1 临床资料 患者 32例 ,年龄 2 3~ 34 (平均 2 5 .3)岁 ,均为产后哺乳产妇 .其中患乳胀痛为共有症状 .伴发热 10例 ;右侧乳腺炎 14例 ,左侧乳腺炎 16例 ,双侧乳腺炎 2例 ;外上象限胀痛 6例 ,外下象限胀痛 8例 ,内上象限胀痛 7例 ,内下象限胀痛 6例 ,二象限同时胀痛 5例 .乳头均无破损 .患者取卧位 ,显露患乳 ,乳头以碘伏严密消毒后 ,术者持五号针头以指腹常规触诊患乳 ,触摸到肿胀部位后 ,沿乳腺管走行方向找到对应的乳头腺管口 ,以针尖轻轻挑拨…  相似文献   
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BACKGROUND/PURPOSE: Syndactyly is one of the most common malformations of the hands and feet. Repair may necessitate the use of a full-thickness skin graft. The prepuce is an excellent choice for grafting because of its lack of hair, elasticity, and degree of thickness. The authors report 4 cases of syndactyly repair using foreskin for grafting. METHODS: The authors reviewed 4 cases of syndactyly repaired at Children's Hospital, where foreskin was used for grafting. There was one congenital band syndrome and 3 cases of simple syndactyly. Three patients had a normal prepuce and underwent simultaneous circumcision. One patient presented with coronal hypospadias and underwent simultaneous meatal advancement and glanuloplasty. RESULTS: All patients experienced a satisfactory outcome with no graft loss and no complications. No grafts showed hair, and 3 grafts showed slight relative hyperpigmentation. Excess foreskin was available in all cases of simple syndactyly. Concominant hypospadias repair did not increase the morbidity of the surgery. CONCLUSION: The intact or hypospadiac foreskin is an excellent choice for a free graft in syndactyly repair when available.  相似文献   
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