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Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes(MELAS) is one of the most common inherited mitochondrial diseases. This paper reports a rare mutation associated with MELAS syndrome, the m. 3252 A>G mutation in the MT-TL1 gene encoding the mitochondrial tRNALeu(UUR). The 6-year-old girl suffered from recurrent convulsion and lactic acidemia. The mtDNA sequencing detected a variant m. 3252A>G(MT-TL1 gene) in the proband and her maternal relatives. The heteroplasmic levels in peripheral blood and urine sediment were 66.53% and 97.42%, respectively, which were obviously higher than those of her maternal relatives. Together with 3 previously reported cases, the variant m. 3252A>G could be classified pathogenic. All the reported pathogenic variants in MT-TL1 gene were reviewed to explore the genotype-phenotype correlations of pathogenic variants in MT-TL1 gene.
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Objective:To investigate the value of serum insulin-like growth factor-1 (IGF-1), dehydroepiandrosterone sulphate (DHEAS), anti-Müllerian hormone (AMH) and bone morphogenetic protein 6 (BMP-6) in prediction of rapidly progressive puberty(RPP) in girls.Methods:The data of 750 girls who visited the Department of Endocrinology, Metabolism and Genetic Disorders, Children′s Hospital of Soochow University from August 2017 to October 2018 because of breast development were retrospectively analyzed.After following up these girls for 6 months to 1 year, those who were lost to follow up, received early treatment and failed to meet the inclusion criteria were excluded.The remaining 138 girls were divided into the central precocious puberty group (CPP, 32 cases), the early puberty with RPP group (EP-RPP, 33 cases), the early puberty with slow progression puberty group (EP-SPP, 32 cases) and RPP group (41 cases) according to the inclusion criteria.The healthy control group consisted of 33 undeveloped girls aged 8 to 9 who underwent physical examination in the same hospital over the same period.The serum concentrations of IGF-1, DHEAS, AMH and BMP-6 were measured.The general information, clinical manifestations, laboratory examination results and radiological features were compared among different groups.Statistical analysis was performed by using SPSS 22.0, and the receiver operating characteristic curve (ROC) was drawn to investigate the value of IGF-1, DHEAS, AMH and BMP-6 in prediction of RPP.Results:(1)The serum follicle stimulating hormone(FSH) peak value was 15.10(13.86-19.80) IU/L in the EP-SPP group, 11.99(9.18-16.16) IU/L in the EP-RPP group and 11.43(9.37-15.63) IU/L in the RPP group.The ratio of serum FSH/luteinizing hormone(LH) peak values was 3.20(2.44-4.58) in the EP-SPP group, 1.86(1.05-3.16) in the EP-RPP group and 0.76(0.49-0.99) in the RPP group.The serum FSH peak value and the ratio of serum FSH/LH peak values in the EP-SPP group were significant higher than those in the EP-RPP group(all P<0.05). There was no significant difference in the serum FSH peak value between the EP-RPP group and the RPP group( P>0.05). (2)The serum IGF-1 levels of the healthy control group, EP-SPP group, EP-RPP group, CPP group and RPP group were 166.00(126.50-188.00) μg/L, 199.00(170.50-262.50) μg/L, 252.00(233.00-291.50) μg/L, 288.00(252.00-376.00) μg/L and 382.00(264.0-499.50) μg/L, respectively.The serum IGF-1 levels of the EP-SPP group, EP-RPP group, CPP group and RPP group were all significantly higher than those in the healthy control group (all P<0.05). The serum IGF-1 levels in the EP-RPP group were higher than those in the EP-SPP group( P<0.01). As the puberty rapidly progressed, the serum IGF-1 levels gradually increased.The RPP group had the highest IGF-1 levels, and the difference in IGF-1 levels between the RPP group and EP-RPP group was statistically significant( P<0.01). (3)The serum DHEAS levels were 41.65(14.80-59.88) μg/L in the healthy control group, 42.50(30.15-79.83) μg/L in the EP-SPP group, 52.32(43.08-98.54) μg/L in the CPP group, 63.30(34.00-81.55) μg/L in the EP-RPP group and 70.89(51.85-100.02) μg/L in the RPP group.The DHEAS levels of the healthy control group, EP-RPP group and RPP group gradually increased.The RPP group had the highest DHEAS levels.There was significant difference in DHEAS levels among the healthy control group, EP-RPP group and RPP group ( P<0.05). There was no significant difference in DHEAS levels among the EP-SPP group, CPP group and EP-RPP group( P>0.05). (4)The serum AMH and BMP-6 levels in the EP-RPP group, EP-SPP group, RPP group, CPP group and healthy control group were not significantly different( P>0.05). (5)The area under the ROC curve of serum IGF-1 levels was 0.765, the cut-off value was 232.5 μg/L, the specificity for the cut-off value was 83.30%, and the sensitivity was 75.00%.The combined area under the ROC curve of the serum FSH peak value and the ratio of serum FSH/LH peak values was 0.795. Conclusions:Serum IGF-1 levels and the combination of the serum FSH peak value and the ratio of serum FSH/LH peak values can be used as effective indicators of slowly and rapidly progressive puberty in early adolescent girls.Serum DHEAS cannot be used as an early warning index of RPP, but it plays a critical role in the regulation of puberty initiation and process.Serum DHEAS levels may be related to the Tanner stage.
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Objective To examine the distribution,volume and glucose-uptake activity of brown adipose tissue (BAT) in adults and investigate their correlations with metabolic indicators.Methods 18F-flurodeoxyglucose (FDG) PET/CT was used to analyze the distribution,volume and glucose-uptake activity of BAT.The clinical and metabolic differences between BAT positive group (n =121) and BAT negative group (n=257) were compared.The influences of metabolic indicators (fast blood glucose (FBG),triglyceride (TG),total cholesterol (TC),high density lipoprotein cholesterol (HDL-C),low density lipoprotein cholesterol (LDL-C),uric acid (UA)) on the distribution,volume and activity of BAT were investigated.Logistic regression analysis,two-sample t test,x2 test and multiple linear regression were used to analyze the data.Results The distribution,volume and glucose-uptake activity of BAT were found to be significantly higher in subjects being tested in colder seasons than those who were tested in warmer seasons:2.91％ (87/2 991) vs 1.68％(34/2018),(433±402) vs (329±298) ml,(212±183) vs (169±145) g (x2=7.66,t values:3.36 and 2.98,all P＜0.05).The female proportion was significantly higher in BAT positive group than that in BAT negative group:68.60％ (83/121) vs 31.91％ (82/257) (x2 =16.10,P＜0.01).The average levels of age,body mass index (BMI),FBG,TG,TC,LDL-C and UA in BAT positive group were significantly low-er than those in BAT negative group:(41.30±10.90) vs (48.70±9.60) years,(21.30±2.40) vs (24.50± 3.10) kg/m2,(4.56±0.74) vs (5.34±1.33) mmol/L,(0.94±0.36) vs (2.06±1.64) mmol/L,(4.42± 0.79) vs (4.88±0.87) mmol/L,(1.99±0.58) vs (3.10±0.77) mmol/L,(285.11±70.00) vs (347.70± 101.10) μmol/L (t values:from-6.25 to-2.94,all P＜0.01).Logistic regression analysis revealed that season,gender,age,BMI,FBG,TG and LDL-C levels were all independent influencing factors of BAT distribution in adults (odds ratios:5.36,2.06,0.95,0.79,0.49,0.23,0.02;P＜0.01 or P＜0.05).Among BAT positive adults,gender and FBG levels were found to be strongly affected by the volume and glucose-uptake activity of BAT (β values:0.28,-0.21,both P＜0.05).Conclusions The distribution,volume and glucose-uptake activity of BAT in adults are associated with multiple metabolic indicators including BMI,levels of glucose,lipid and UA.The distribution of BAT is affected by gender,age,season,BMI,blood glucose,and blood lipids.
