ABSTRACT
We report a case of adult-onset dystonia presenting with chronic progressive external ophthalmoplegia. The patient had ptosis in both eyes, particularly the left eye, for no obvious reason since the age of 10, which was progressively aggravated. The clinical diagnosis was chronic progressive external ophthalmoplegia. However, whole gene sequencing revealed the mitochondrial A3796G missense mutation, so the patient was clearly diagnosed as adult-onset dystonia and given treatment to reduce blood glucose and improve muscle metabolism. The A3796G mutation in the ND1 subunit of the mitochondrial complex leading to ophthalmoplegia is relatively rare, requiring a combination with genetic testing for confirmation of diagnosis.
Subject(s)
Blepharoptosis , Dystonic Disorders , Ophthalmoplegia, Chronic Progressive External , Adult , Humans , Eye , Genetic TestingABSTRACT
Objective:Based on the previous epidemiological investigation of hyperparathyroxinemia in Urumqi community, a follow-up study was conducted to understand the changes of serum parathyroid hormone (PTH) level and clinical characteristics of residents with PTH.Methods:In the previous study (2013), an epidemiological cross-sectional study of hyperparathyroxinemia was conducted on 1 473 residents of the resident community, and 180 people with hyperparathyroxinemia were found. The serum PTH, parathyroid related laboratory indexes and vitamin D were observed in high PTH population of different genders.Results:According to the inclusion criteria, 159 patients with high PTH were included in the study. The total follow-up rate was 88.3% (159/180), including 24 males (15.09%) and 135 females (84.91%). The serum PTH level in the follow-up population was 68.60 (47.85-98.80)pg/ml, which was significantly different from that in the first visit ( P<0.01). There was no significant difference in serum PTH levels between men and women ( P>0.05). The levels of serum 25(OH)D, calcium, phosphorus, magnesium, creatinine, albumin and alkaline phosphatase in the follow-up population had no significant changes compared with the first visit population (all P>0.05); After stratified by sex, the serum creatinine level of men with high PTH was significantly higher than that of women ( P<0.01), and there was no significant difference in other PTH related laboratory indexes ( P>0.05); Although the vitamin D level was still deficient (<20 ng/ml), the proportion of people with sufficient vitamin D was significantly higher than that at the first visit. Conclusions:25(OH) D deficiency was still common in the follow-up population, but the vitamin D level of the residents with PTH was significantly improved and the serum PTH level was significantly lower than that in the first visit.
ABSTRACT
Objective To understand the vitamin D status and its possible ethnic differences among Uygur and Han women of childbearing age in a community of Urumqi.Methods Based on the data of 2 080 patients with thyroid disease in a community of Urumqi,which were collected in May 2013,we selected the complete information of 652 Uygur and Han women of childbearing age (between 18-45 years),which included 367 Uygur women [average age (35.14± 6.91) years] and 285 Han women [average age (35.52± 7.10) years].The basic data of height,weight,and waist circumference were recorded.The serum level of 25-hydroxyl vitamin D [25(OH) D] was detected by chemiluminescence method.Results The serum 25(OH) D levels of Uygur and Han were (11.51±6.31) μg/L and (16.43±6.43) μg/L,respectively.The 25(OH)D level in Uygur women was significantly lower than that of Han women (t =-9.800,P＜0.001).The constituent ratio of vitamin D status was significantly different between Uygur and Han women (vitamin D severe deficiency:47.4％ in Uygur women and 12.3％ in Han women),deficiency (44.7％ in Uygur women and 64.6％ in Han women),insufficiency 5.7％ in Uygur women and 17.9％ in Han women),sufficiency (2.2％ in Uygur women and 5.2％ in Han women) (x2 =99.486,P＜0.001).Conclusion Serum 25 (OH) D deficiency is common in Uygur and Han women of childbearing age in Urumqi,especially among Uygur women.
