Objective:To investigate the diagnostic value and cutoff value of the basal luteinizing hormone (LH) level for central precocious puberty (CPP) in girls with different body mass index (BMI) values.Methods:A total of 1 087 girls aged 6 to 8 years old with breast development and visiting the Department of Endocrine Genetics and Metabolism, Fuzhou Children′s Hospital of Fujian Medical University from January 2014 to December 2018 were enrolled.The girls had the breast development of Tanner stage B2 or B3.They were divided into groups of normal weight (840 cases), overweight (133 cases) and obesity (114 cases) according to BMI percentiles corresponding to their age and sex.All individuals underwent gonadotropin-releasing hormone (GnRH) agonist test.Statistical analysis was performed using SPSS 18.0 software, and the receiver operating characteristic (ROC) curve was drawn.Results:In the normal weight group, 393 girls were positive and 447 girls were negative for GnRH test.In the overweight group, 72 girls were positive and 61 girls were negative for GnRH test.In the obesity group, 40 girls were positive and 74 girls were negative for GnRH test.The areas under the ROC curve (AUC) of the basal LH level for the diagnosis of CPP in the normal weight, overweight, and obese girls were 0.826, 0.774, and 0.801, respectively.When the Youden index was maximum, the cutoff values of the basal LH level were 0.245 IU/L, 0.225 IU/L and 0.145 IU/L, respectively; the sensitivities were 63.9%, 65.3%, and 80.0%, respectively; the specificities were 87.9%, 82.0%, and 71.6%, respectively.When the cutoff value of the basal LH level was 0.455 IU/L in the normal weight group, 0.480 IU/L in the overweight group, and 0.335 IU/L in the obesity group, the specificities of the 3 groups were all above 96.6%.Conclusions:It is reliable to use the basal LH level for CPP diagnosis for girls with different BMI values.The cutoff value of the basal LH level for CPP diagnosis in obese girls is the lowest.

Boron neutron capture therapy(BNCT)is an advanced radiotherapy combined with targeted therapy and heavy ion therapy. BNCT is based on the nuclear reaction 10B (n, α) 7Li that occurs when boron-10 isotopes is irradiated with neutrons of the appropriate energy to produce high-energy recoiling 7Li nuclei and α particles. The released high linear energy transfer (LET) particles have path lengths of approximately one cell diameter (5-9 μm) and deposit most of their energy within the boron-containing tumor cells. BNCT has the advantages of precise tumor targeting, less damage to normal tissue and fewer irradiation fractionations (1-3 fractionations) than conventional radiotherapy (30 fractionation). The neutrons used in BNCT are produced by reactors or accelerators. The boron drugs used in clinical trials include BPA and BSH. In this paper, we review the clinical trial status and the significant progress of BNCT for head and neck tumors. The clinical data have approved the effectiveness of BNCT in the treatment of head and neck cancer. With the technical improvement of accelerator neutron source and the development of new boron drugs, BNCT will play a more important role in the field of clinical radiotherapy in the future.

Objective: To investigate the correlation between c-kit mRNA expression and prognosis in patients with rectal carcinoma. Methods: The expression of c-kit mRNA in rectal carcinoma tissues(n=66) was detected by multiplex branched-DNA liquid chip method. According to the expression level, the patients were classified into the c-kit mRNA high expression group and the low group. We analyzed the relationship between the c-kit mRNA expression and the clinicopathological characteristics of patients, as well as the factors affecting patients′prognosis. Results: Of the 66 rectal carcinoma patients, 18(27.3%)cases were c-kit mRNA high expression. No significant correlation was found between the c-kit mRNA expression and gender, age, preoperative carcinoembryonic antigen, preoperative hemoglobin, distance to verge, lymph node metastasis, tumor thrombus, T stage, TNM stage and tumor differentiation (P>0.05). In follow-up, 34 patients died, 32 patients and 36 patients were recurrence or metastasis. The 1-, 3-, 5-year overall survival(OS) of c-kit mRNA high expression group were 100.0%, 77.8%, 77.8%, respectively, while those of the low one were 93.8%, 56.3%, 45.8%, respectively. The difference was statistically significant(P=0.025). Lymph node metastasis, T stage and TNM stage were also significant associated with OS(P<0.05). The 1-, 3-, 5-year disease free rate (DFS)of the c-kit mRNA high expression group were 100.0%, 77.8% and 77.8%, respectively, while those of the low one were 77.1%、43.8% and 41.7%, respectively, and the difference between the two groups was significant (P=0.044). As a reslut, c-kit mRNA expression (P=0.038) and TNM stage (P=0.039) were the independent prognostic factors affecting the OS in rectal cancer patients. Conclusions Low expression of c-kit was associated with poor prognosis of rectal carcinoma. And the mechanism underlying this phenomenon deserves further exploration.

Objective To investigate the diagnostic value of growth hormone(GH) stimulating test in dwarfism of children and related influencing factors .Methods Arginine and L‐dopa were applied to perform GH stimulating test in 642 children with dwarf‐ism .GH levels were detected at 30 ,60 ,90 ,120 ,150 ,180 min after stimulation .All children were divided into GH deficiency (GHD) group ,with peak value of GH less than 10 ng/mL ,and non‐GHD group ,with peak value of GH at least 10 ng/mL .Physical and la‐boratory data of the two groups were compared .Results The proportion of children with GHD and without GHD were 68 .69%and 31 .31% ,respectively ,and with statistical difference(χ2 =6 .19 ,P<0 .05) .The GH peak value ,with a delay ,mainly appeared at 30 and 150 min after stimulation ,accounting for 22 .42% and 34 .27% .Levels of age ,body height standard deviation ,body mass in‐dex ,alanine aminotransferase ,aspartate aminotransferase ,insulin growth factor‐1 and 25‐hydroxyl vitamin D were statistically dif‐ferent between the two groups(P<0 .05) .Conclusion Arginine and L‐dopa combined stimulating test could be used for the diagno‐sis of GHD in children with dwarfism .GH level might be correlated with various physical and laboratory parameters ,which should be considered for the diagnosis of GHD .

Objective To analyze the clinical characteristic s of an infant with congenital lipoid adrenal hyperplasia (CLAH),and to sequence the acute regulatory protein (steroid acute regulatory,StAR) gene of the infant patient and her pedigree.Methods Physical examination,laboratory tests,and imaging examination of the 11-month-old patient with CLAH were collected.DNA was extracted from blood samples of the patient and her parents.The 7 exons of StAR gene were amplified by PCR and then sequenced.Results Dark skin,girl vulva,and one each 1.0 cm×1.0 cm palpable lump in inguinal area bilaterally were observed.The adrenocorticotropic hormone (ACTH) was 253 pg/ml,cortisol was 27.6 nmol/L at 8 am,17-hydroxyprogesterone was 3 nmol/L.Uhrasound showed that sign of testicular ultrasonography existed in bilateral inguinal regions.Karyotype analysis showed 46,XY.Sequencing of PCR amplified fragments showed that there were two heterozygous mutations c.229C ＞ T,p (Gln77X) and C.659A＞G,p (His220Arg) of StAR gene in this patient.By rectifying the disturbance of electrolyte,and treating with hydrocortisone and 9α fludrocortisone,etc,the patient has been stable so far.Conclusion The patient presents typical clinical manifestations.Two heterozygous mutations including c.229C ＞T,p (Gln77X) from maternal and C.659A＞G,p (His220Arg) from paternal of StAR gene were detected.Wherein the c.659A＞G,p.(His220Arg) as a novel point mutation of StAR gene,has not been reported so far.

Objectives To investigate the causes of short stature in Turner syndrome (TS). Methods 86 patients were di-agnosed with TS by karyotypes from 2004 to 2013. According to the deletion types of the X chromosome short arm, growth hor-mone (GH), insulin-like growth factor-1 (IGF-1) and thyroid function, the TS patients were divided into different groups and com-parison was made among groups. Results Ht SDS in three groups with different extent of the deletion of the X chromosome short arm were (-4.39±1.08), (-3.26±1.25) and (-2.84±0.15) (P<0.05). The proportion of growth hormone deifciency (GHD) in the three groups were 62.5%, 38.9%and 0%(P<0.05). Ht SDS in groups with different degree of IGF-1 level were (-4.37±1.10), (-3.82±1.07) and (-3.25±0.91) (P<0.05). There was no signiifcant difference of Ht SDS between hypothyroidism patients with and without GHD (P>0.05). Conclusions The deletion of X chromosome short arm may cause the short stature in TS. The GH-IGF-1 axis in TS is impaired, but GHD is not related to short stature in TS.

Objective Turner syndrome (TS) is characterized with reduced adult height and gonadal dysgenesis and associated with a number of complications including thyroid disease.The purpose of this study was to investigate the prevalence of thyroid diseases and the association between thyroid autoantibodies (TAA) and thyroid dysfunction,age,and karyotype.Methods Fifty-five girls with TS were diagnosed by chromosome analyses and were divided into 2 groups according to whether there was TAA-positive or not:TAA-positive group and TAA-negative group.Thyroid autoantibodies (antithyroglobulin antibody,thyroperoxidase antibody),thyroid function (free T3,free T4,and TSH) were determined with immunochemiluminescent.Ultrasound was applied in TAA-positive group.Results Thyroid functions in 34 TAA-negative girls were normal.Of the 21 TAA-positive girls (21/55,38.2％),7 girls suffered from hypothyroidism and 3 girls had hyperthyroidism.All of 21 TAA-positive girls were diagnosed as cases of Hashimoto's thyroiditis.As compared with the girls in TAA-negative group,the age of girls in TAA-positive group was significantly higher [(12.16 ± 2.55 vs 9.95 ± 4.50) years,P＜0.05].6 cases under 5 years old were TAA-negative.31.3 ％ (5/16) of patients aged 5-10 years old,48.1％ (13/27) aged 10-15 years old and 50.0％ (3/6) above the age of 15 were TAA-positive.There were no significant differences in the numbers of TAApositive cases among different karyotypes (P ＞ 0.05).Thyroid ultrasound in girls with positive-TAA showed the abnormal echogenicity in bilateral lobus lateralis of thyroid.Conclusion Patients with TS are prone to suffer from Hashimoto's thyroiditis leading to thyroid dysfunction,when they are older than 5 years.Thyroid function should be evaluated yearly in girls with TS after 5 years old.There is no specific association between the incidence of autoimmune thyroid disease and certain karyotypes.

Objective To explore the mechanism of self-awareness in the heavy smokers(HS)by using regional homogeneity(ReHo)combined with resting-state functional MRI(fMRI).Methods Thirty HS and 31 healthy non-smokers(NS)matched for age and sex underwent a 3.0 T resting-state fMRI.The data were post-processed by SPM 5 and then the ReHo values were calculated by REST software.The ReHo values between the two groups were compared by two-sample t-test.The brain map with significant difference of ReHo value was obtained.Results Compared with that in NS group,the regions with decreased ReHo value included the bilateral precuneus,superior frontal gyrus,medial prefrontal cortex,right angular gyrus,inferior frontal gyrus,inferior occipital gyrus,cerebellum,and left middle frontal gyrus in HS group.The regions of increased ReHo value included the bilateral insula,parahippocampal gyrus,white matter of parietal lobe,pons,left inferior parietal lobule,lingual gyrus,thalamus,inferior orbital gyrus,white matter of temporal-frontal lobe,and cerebellum.The difference was more obvious in the left hemisphere.Conclusions In HS,abnormal ReHo on a resting state which reflects network of smoking addiction.This method may be helpful in understanding the mechanism of self-awareness in HS.

Objective To study the changes of the putamen metabolites with magnetic resonance spectrum(MRS),and to explore possible underlying unrecongnised aetiological factor and pathophysiology mechanism in the central nervous system of the patients with Tourette' s syndrome.Methods Twenty-two cases of Tourette' s syndrome,and twenty-two gender and age-matched subjects ( the control subjects ) were performed on a clinical 3.0 T MRI system.Proton prob-voxel spectroscopy imaging (1H-MRS) was obtained from two sides of the putamen.The metabolites included N-acetylaspartate (NAA),creatine and phosphocreatine ( Cr),choline-containing compounds (Cho),and myoinositol ( MI ).The value of the NAA,Cr,Cho,and MI were calculated by integration of their peaks.The ratios of NAA/Cr,Cho/Cr,ML/Cr were calculated respectively.Repeated measures analysis of variance ( ANOVA ) was used to test both the value of NAA/Cr,Cho/Cr,MI/Cr of the putamen for group difference,with group as between-subjects factor and side as within-subjects factor.Results The NAA/Cr ratio in patients ( left:1.29 ± 0.13 ; right:1.34 + 0.15 ) was significantly lower than that in the control subjects ( left:1.50 ± 0.08,T =1.962,P ＜0.05 ; right:1.52 ± 0.11,T =1.865,P ＜ 0.05 ).There was no significant difference in the Cho/Cr and MI/Cr ratio between both groups.Conclusion The abnormalities of the structure and(or) function in the putamens of patients may be the one of the underlying anaetiological factors and pathophysiology mechanisms of the Tourette' s syndrome.

ObjectiveTo investigate the central nervous system mechanisms of active of movement switch in the patients with Tourette' s syndrome( TS),and to explore the possible underlying distinct neural networks for tic trigger and generation. Methods Participants were 14 patients with TS and 14 age- and gender-matched healthy volunteers with no history of physical,psychiatric or neurological disease: All patients were assessed with functional magnetic resonances imaging (fMRI)of the brain during the intermittent performance of finger-tapping switch tasks,Blood-oxygen-level dependent-fMRI was performed using a 3.0 Tesla MR.The area over which the activation was distributed was calculated,and the activation volumes were also compared between the patients with TS and the control subjects.ResultsThe regions activated in the patients with TS and in the volunteers were similar in several brain regions,including contralateral precentral and postcentral gyrus,contralateral mesia pre-front gyrus,contralateral cingulate gyrus,contralateral insula and ipsilataral cerebellum. There were also many different activation areas between the patients and the control subjects. The patients with TS demonstrated more significant and extended activation in the contralateral pre- and postcentral gyrus than the healthy volunteers.The volume of the left pre- and postcentral gyrus of the TS patients was (8.024 ±0.071 ) cm3,while the volume of the left pre-and postcentral gyrus of the control subjects was ( 6.480 ± 0.026) cm3 ( t =3.026,P ＜ 0.01 ) ; The volume of the right pre- and postcentral gyrus was (6.192 ± 0.019) cm3 in the TS cases,while there was (5.608 ±0.037) cm3 in the control subjects (t =2.752,P ＜0.05).There were significant differences in the volumes of bilateral pre- and postcetral gyrus between the TS and control subjects. The activations of conralateral thalamus without contralateral insula were found in the patients with TS. Conversely, the contralateral insula activation without thalamus activation could be found in the healthy volunteers.ConclusionThe thalamus might play an important role in the aetiological and physiopathologic mechanisms of the TS. The thalamus along with the parietal cortex,cingulate cortex and insular cortex appear to constitute a distinct neural network for tic trigger and generation.