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1.
Pakistan Journal of Medical Sciences. 2012; 28 (5): 968-970
em Inglês | IMEMR | ID: emr-149523

RESUMO

Sirenomelia sequence is a rare congenital anomaly. This is also known as "mermaid syndrome" because of typical feature of lower limb. Sirenomelia sequence is characterized with a single midline lower limb. Our case was an infant delivered at 34 gestational weeks by spontaneous vaginal delivery from a 34 years old gravida 2, para 0. Parents are not relative. Infant has one femur, one tibia and one phalanx at lower extremity. Calcaneus, metatarsals and other bones of the foot are absent. Patient has anal atresia and renal agenesy. Determination of sex was impossible since external genitalia was absent. Although some risk factors [e.g. maternal diabetes] have been suggested, etiolgy of sirenomelia sequence is debated. In this report, we describe a premature infant with sirenomelia sequence because of very rare presentation.

2.
Saudi Medical Journal. 2006; 27 (3): 373-376
em Inglês | IMEMR | ID: emr-80724

RESUMO

To investigate the role of human leukocyte antigen [HLA] in susceptibility to psoriasis vulgaris in the Northeast region of Turkey and to contribute to the data related to HLA and psoriasis. The study included 72 unrelated psoriatic patients [43 men and 29 women; aged 11-76 years] admitted to the Dermatology Department, University Research Hospital, Erzurum, Turkey between April 2002 and November 2003. We studied the distribution of HLA class I and II antigens in patients with psoriasis: 72 patients were divided into 2 groups according to the onset of psoriasis before age 40 years with family history [type I] and onset after age 40 without family history [type II]. The HLA class I and II antigens were analyzed using the PCR-SSP method in 72 patients and in 104 controls. We found an increase in HLA-A30 and A68, B7, Bl3, B57,Cw6, and DRB 107 antigens in psoriatic patients compared with controls. As we compared type I and type II psoriasis with control group, B57, Cw6 and DRB 107 alleles were more significant in patients with type I psoriasis. Our patients with type II psoriasis represented a significant association with the HLA-B13. Our findings along with previous HLA studies on psoriasis vulgaris patients from different racial groups showed that HLA-B57 and DRBI 07 alleles are associated with the disease


Assuntos
Humanos , Masculino , Feminino , Alelos , /genética , Psoríase/classificação , Reação em Cadeia da Polimerase , Estudos de Casos e Controles
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