Objective To observe the effect of long-term intensive glucose control therapy on diabetic retinopathy in outpatients with type 2 diabetes mellitus.Methods Forty-nine patients with type 2 diabetes mellitus were randomly assigned to participate in the trial from 2002 to 2007,receiving either intensive (24 cases) or standard glucose control (25 cases).The patients were examined by the same ophthalmologists to identify any new diabetic retinopathy (DR).After 5 years of intensive glucose control,all of the patients were asked to attend our clinic every 6 months,but no attempts were made to maintain their previously assigned therapies.Hemoglobin A1c (HbA1 c) was measured regularly.In November of 2009,a retinal examination was carried out by the same ophthalmologist who worked in the trial.The visual acuity,lens,vitreous body and fundus were examined after pupil dilation to identify diabetic retinopathy (DR).Fundus fluorescein angiography and retinal laser photocoagulation were carried out when necessary.Results In the second year after enrollment in the trail,the median HbA1c level of the intensive-therapy group was significantly lower than that of the standard-therapy group [(6.3 ± 0.6) ％ vs.(7.2 ± 1.2) ％,t =2.09,P ＜ 0.05],and was maintained in a controlled level throughout the following 4 years.During the post-trial monitoring,no new case of of macula edema or diabetic associated blindness occurred in either intensive or standard-therapy group,the whole occurrence of micro-aneurysms,fundus hemorrhage,as well as those who needed retinal laser photocoagnlation and lowering in visual acuity in intensive-therapy group was lower than that in the standard-therapy group (3 vs.14,1 vs.7,2 vs.4,3 vs.11,respectively ;9 vs.36,totally,x2 =4.719,P ＜ 0.05).During the first post-trial monitoring,there was no difference in median HbAlc level between intensive-therapy group and standard-therapy group [(7.2 ± 1.1) ％ vs.(7.3 ± 1.3) ％,t =0.25,P =0.806],which was sustained in the following years.In the trail,no new case of fundus hemorrhage or diabetic associated blindness occurred in intensive-therapy group during the five-year period of therapy.Number of new episodes of micro-aneurysm,macula edema were less in intensive-therapy group than that in standard-therapy group,number of new episodes of lowering in visual acuity,and those who needed retinal laser photocoagnlation,were significantly less in intensive-therapy group than that in standardtherapy group(15 vs.25,4 vs.23,Z =-4.459,P ＜ 0.05) during five-year follow-up.Conclusions The benefit of reduced incidence of diabetic retinopathy in intensive glucose can be maintained because of the legacy effect.

Objective:To study the genetic profiles of phenylalanine hydroxylase (PAH) gene mutations in neonates with phenylketonuria (PKU) in Xinjiang.Methods:From January 2015 to December 2021,neonates born and genetically diagnosed with PKU in our region were retrospectively included. The genetic profiles of different ethnic groups were analyzed and compared with PKU patients from central, northwest and northern regions of China.Results:A total of 131 neonates with PKU were enrolled, including 82 Han, 25 Hui and 20 Uyghur patients, 4 cases of other ethnic groups. 46, 20 and 14 types of pathogenic variants were detected in each ethnic group with detection rates of 95.1% (156/164), 66.0% (33/50), and 60.0% (24/40), respectively. The variants were mainly missense mutations and located in exons 2, 3, 6,7 and 11. The most common loci in Hui patients were c.158G>A (18.2%), c.728G>A (18.2%) and c.898G>T (9.1%). The most common loci in Uyghur patients were c.158G>A (33.3%), c.355C>T (12.5%) and c.1068C>A (8.3%). c. 898G>T might be most unique in Hui patients and c.355C>T most unique in Uyghur patients in Xinjiang. A novel variant of PAH gene, c.828G>C (p.M276I) in exon 7 was identified. Compared with northern, central and northwestern regions of China, PKU patients in Xinjiang had significantly higher incidence of c.158G>A mutation and lower incidence of c.728G>A mutation ( P<0.05). Conclusions:Missense mutations of PAH gene are common in some regions of Xinjiang. The compositions of PAH gene variations are similar to northwest and northern China with significant differences in hotspots of mutations.

【Objective】 To investigate the influencing factors behind the follow-up compliance of patients with low/no phenylketonuria (PKU) for special medical use, in order to provide a basis for regulating the follow-up of PKU patients and ensuring the effectiveness of special diet treatment. 【Methods】 A survey was conducted on PKU patients treated in Urumqi Maternal and Child Health Hospital for over 1 year, from January 2010 to December 2020. Interviews and questionnaires were conducted with their caregivers to collect and analyze the current status of PKU patients undergoing special diet treatment, and to identify the influencing factors behind their compliance with follow-up treatment. 【Results】 Patients who had received neonatal disease screening, neonatal gene diagnosis, and maternal Down′s screening during pregnancy had better compliance, with statistically significant differences (χ²=5.753, 10.993, 9.189, P<0.05). PKU children with parents who had a college education or above showed significantly higher adherence to special diet treatment (χ²=8.321, 7.415, P<0.05). PKU children with parents having a fixed occupation also showed higher compliance, with a statistically significant difference (χ²=20.626, 7.895, P<0.05). Patient age, interval of buying special diet, number of blood samples sent and enrollment of normal age, all had a significant impact on the follow-up compliance of PKU patients with special diet (χ²=19.443, 8.090, 69.482, 12.001, P<0.05). 【Conclusions】 PKU is a treatable genetic metabolic disease. Strengthening health education, formulating standardized follow-up plans and procedures, and improving follow-up treatment compliance are crucial in enhancing the treatment and follow-up effectiveness of PKU patients.