Medicine
-
Metastasis-associated gene 1 (MTA1) is correlated with prognosis of many tumors. However, little is known about the role of MAT1 in endometriosis and its relationship with the recurrence of endometriosis. The expression of MTA1 in normal, eutopic and ectopic endometrium was detected by immunohistochemistry and RT-PCR, respectively. ⋯ While, postoperative pregnancy was a protective factor for its relapse. MTA1 is closely associated with the occurrence and development of Ems. Thus, MTA1 level may be used as a new indicator to predict the progression of endometriosis.
-
X-linked dominant hypophosphatemia rickets (XLH, OMIM 307800) is the most common hereditary hypophosphatemic rickets and characterized by growth retardation, skeletal malformations, dental dysplasia, spontaneous fractures and osteomalacia. PHEX gene was identified for XLH and novel mutations were consistent with loss of function. ⋯ Two novel pathogenic PHEX mutations were found: c.497delG in family 1 and c.388G> T in family 2, both of which caused early termination of translation and produced truncated protein. Serum FGF23 concentration in our XLH patients were obviously higher than the normal and may be related to age to some extent. Early initiation of treatment produces better effect.
-
Observational Study
Genetic polymorphism of IL36RN in Han patients with generalized pustular psoriasis in Sichuan region of China: A case-control study.
The aim of this study was to detect IL36RN variant types and frequency in Han patients with generalized pustular psoriasis (GPP) in Sichuan region of China, reveal the difference of variant frequency between GPP alone and GPP + PV (psoriasis vulgaris), and preliminarily clarify the pathogenesis of GPP in this region. Genomic DNA was extracted and subjected to polymerase chain reaction (PCR) for the amplification of the entire encoding and splice sites of the IL36RN gene followed by bidirectional sequencing. Differences in frequencies of IL36RN variants between groups were analyzed by SPSS Statistics 17.0 software. ⋯ The IL36RN variant frequency of GPP alone group was statistically higher than that of GPP + PV group (79.17% vs 36.84%, P < .05). IL36RN may be the major disease-causing gene in GPP patients in Han population in Sichuan region of China. c.115 + 6T > C is a possible hot-spot mutation within the IL36RN gene. In contrast to GPP + PV, IL36RN mutations possibly play a more important role in the development of GPP alone.
-
It is difficult to repair knee deep burn wounds in elderly patients. In this study, we observed the therapeutic effects of descending genicular artery-saphenous artery perforator flaps on knee deep burn wounds in elderly patients. Between December 2013 and February 2018, we repaired knee third-degree burn wounds using descending genicular artery-saphenous artery perforator flaps of 20 × 12 cm to 23 × 13 cm in 56 elderly patients. ⋯ In the 8 patients with completely necrotic patella and patellar ligament as well as open knee joint, the weight-bearing function of knee joint was retained, which met patients' requirements of limb salvage and weight-bearing function. In the other 48 patients with partially necrotic patella and patellar ligament as well as open joint capsule, the postoperative flexion and extension of the knee joint were good. In elderly patients, it is an effective method to repair knee deep burn wounds using the descending genicular artery-saphenous artery perforator flaps.
-
The objective of this study was to evaluate the association between serum vitamin D deficiency and age-related macular degeneration (AMD) in Koreans through a clinical case-control pilot study. The study included 96 patients: 30 with late AMD, 32 with early AMD, and 34 normal controls. The patients with late AMD were divided into 2 subgroups based on the presence or absence of subretinal fibrosis on optical coherence tomography (OCT) images. ⋯ Among the 2 subgroups of patients with late AMD, those with subretinal fibrosis present on the OCT images showed a greater risk of serum vitamin D deficiency than the normal controls (OR = 7.54; 95% CI 1.34-42.51). However, there was no significant association between serum vitamin D deficiency and late AMD without subretinal fibrosis (OR = 1.89; 95% CI 0.40-8.92). Serum vitamin D deficiency may increase the risk of early and late AMD in Koreans, and may also be associated with subretinal fibrosis in this population.