Objective:To explore the investigation level of individual monitoring for medical radiation workers.Methods:Monitoring and analysis of individual doses to the medical radiation workers in Guangdong province were performed, from 2016 to 2019, by the Individual Dose Monitoring Department of Guangdong Provincial Hospital for Occupational Disease Prevention and Control.Results:The numbers of monitored workers were diagnostic radiology 53 674, dental radiology 2 563, nuclear medicine 5 001, radiotherapy 16 687, interventional radiology 22 272 and others 2 087 from 2016 to 2019, of which the number of individuals with doses in excess of investigation level 1.25 mSv, were 76, 6, 18, 28, 133 and 2 respectively. The non-real doses made up 67.1 %, 100 %, 55.6 %, 82.1 %, 76.7 % and 100 % of their respective totals. Their 99th percentile doses P99 were 0.37, 0.39, 0.67, 0.35, 0.54 and 0.30 mSv, and the average periodic dose equivalent were 0.07, 0.06, 0.11, 0.06, 0.07 and 0.05 mSv respectively, indicating a statistically significant difference existing in the average annual effective dose between groups ( Z=-26.139--2.681, P<0.001). Conclusions:Due to non-reality of doses in excess of investigation levels and high labor cost, it is suggested to currently use 0.40 mSv per 3 months as investigation level for diagnostic radiology, dental radiology, radiotherapy and others, and 0.70 mSv per 3 months as for nuclear medicine and interventional radiology.

OBJECTIVE: Two brothes with Seckel's syndrome 1(SCKL1) were reported and a literature review was carried to provide clinical and genetic information of this rare disease. METHODS: Clinical data of the two children were collected, and the peripheral blood was extracted for whole exome sequencing. Literature of the disease were reviewed. RESULTS: The two patients were 11 years and 9.5 years old when examined for short stature. They presented with intrauterine growth retardation, intellectual disability, microcephaly, birdhead-like face and coffee au lait spots. The bone age was more than 2 years behind the chronical age and the growth hormone levels were normal. Whole exome sequencing revealed novel compound heterozygous variants c.1A>G (p.M1?) and c.4853-18A>G of ART gene in both children. CONCLUSION Children with prenatal onset short stature, developmental delay, microcephaly and special facial featuresshould be considered for the possibility of Seckel's syndrome, whole exome sequencing could help to confirm the clinical diagnosis.
Ataxia Telangiectasia Mutated Proteins/genetics* ; Child ; Dwarfism/genetics* ; Humans ; Intellectual Disability/genetics* ; Male ; Microcephaly/genetics* ; Siblings ; Whole Exome Sequencing

OBJECTIVE: To explore the genetic basis for a child with neonatal severe hyperparathyroidism. METHODS: Genomic DNA was extracted from peripheral blood samples from the patient and her parents. Whole exome sequencing was carried out to screen potential mutations. Suspected mutation was verified by Sanger sequencing. RESULTS: The proband was found to carry compound heterozygous variants c.179G>A (p.Cys60Tyr) and c.1525G>A (p.Gly509Arg) of the CaSR gene. The c.179G>A variant was derived from her mother and was unreported previously. The c.1525G>A variant was derived from her father and known to be pathogenic. CONCLUSION The compound heterozygous variants of c.179G>A and c.1525G>A of the CaSR gene probably underlie the disease in the patient. The results of genetic testing has enabled diagnosis and genetic counseling for her family.
Female ; Genetic Counseling ; Genetic Testing ; Humans ; Hyperparathyroidism/genetics* ; Infant, Newborn ; Infant, Newborn, Diseases/genetics* ; Mutation ; Pedigree ; Receptors, Calcium-Sensing/genetics* ; Whole Exome Sequencing

Aarskog-Scott syndrome is an orphan disease, the typical manifestations include special facial feature, short stature, genital anomalies and skeletal dysplasia. We reported a male patient, three years six months old, admitted because of slow growth in height for 3 years. His stature was 90 cm(

OBJECTIVE： To investigate the effects of different polar parts of 5 kinds of Alpinia on the function of sympathetic-adrenal system in gastric ulcer model rats with cold syndrome， such as the root of Alpinia officinarum， the rhizome and fruit of Alpinia galangal， the seed of Alpinia katsumadai， and the fruit of Alpinia oxyphylla. METHODS： SD rats were given Anemarrhena asphodeloides decoction at 4 ℃ and Glacial acetic acid solution intragastrically to induce gastric ulcer model with cold syndrome； the model rats were randomly divided into model group， Fuzi lizhong pills group （positive control， 9.0 g/kg）， cimetidine group （positive control， 0.003 3 g/kg）， low-dose and high-dose groups of petroleum ether， ethyl acetate， n-butanol and water extraction parts from 5 medicinal materials （hereinafter referred to as “gaoshidi” “gaoshigao” “dashidi” “dashigao” “hongshidi” “hongshigao” “caoshidi” “caoshigao” “yishidi” “yishigao” “gaoyidi” “gaoyigao” “dayidi” “dayigao” “hongyidi” “hongyigao” “caoyidi” “caoyigao” “yiyidi” “yiyigao” “gaozhengdi” “gaozhenggao” “dazhengdi” “dazhenggao” “hongzhengdi” “hongzhenggao” “caozhengdi” “caozhenggao” “yizhengdi” “yizhenggao” “gaoshuidi” “gaoshuigao” “dashuidi” “dashuigao” “hongshuidi” “hongshuigao” “caoshuidi” “caoshuigao” “yishuidi” “yishuigao”， 0.064/0.256， 0.032/ 0.128， 0.008/0.032， 0.075/0.3， 0.1/0.4， 0.064/0.256， 0.108/0.432， 0.16/0.64， 0.064/0.25， 0.125/0.5， 0.056/0.224， 0.108/0.432， 0.08/0.32， 0.2/0.8， 0.3/1.2， 0.14/0.56， 0.032/0.128， 0.028/0.112， 0.05/0.2， 0.087/0.348 g/kg， by mass of extraction parts）， with 10 rats in each group； and the blank group （normal temperature water） was set up. Next day after modeling， blank group and model group were given constant volume of normal temperature water intragastrically； administration group was given relevant solution 2 mL/100 g intragastrically， q12 h， 4 times in total. After last medication， urine contents of 17-OHCS， CAs substances （A， NE， DA） and serum contents of ACTH and D-β-H were determined by ELISA. RESULTS： Compared with blank group， the contents of 17-OHCS， A， NE and DA in urine， the contents of ACTH and D-β-H in serum were decreased significantly in model group （P＜0.01）. Compared with model group， the contents of 17-OHCS （Fuzi lizhong pills group， cimetidine group， gaoshidi， gaoshigao， dashigao， hongshigao， caoshigao and yishigao groups， ethyl acetate part groups of 5 medicinal materials， dazhenggao， hongzhenggao， caozhenggao and yizhenggao groups， gaoshuigao， dashuigao and hongshuigao groups）， A （Fuzi lizhong pills group， cimetidine group， gaoshigao， dashigao， hongshidi， hongshigao， caoshidi， caoshigao and yishigao groups， ethyl acetate part groups of 5 medicinal materials， gaozhenggao， dazhenggao， hongzhengdi， hongzhenggao， caozhenggao and yizhenggao groups， hongshuigao group）， NE （Fuzi lizhong pills group， cimetidine group， petroleum ether part， ethyl acetate part and n-butanol part groups of 5 medicinal materials， gaoshuigao， dashuigao and hongshuigao groups）， DA [Fuzi lizhong pills group， cimetidine group， petroleum ether part （except for gaoshidi group） and ethyl acetate part groups of 5 medicinal materials， gaozhenggao， dazhenggao， hongzhenggao， caozhenggao and yizhenggao groups， hongshuigao group] in urine， serum contents of ACTH [Fuzi lizhong pills group， petroleum ether part （except for gaoshidi， dashidi and caoshidi groups） and ethyl acetate part （except for dayidi and hongyidi groups） groups of 5 medicinal materials， hongzhenggao group， dashuigao group]， and D-β-H [Fuzi lizhong pills group， gaoshigao， dashigao， hongshidi， hongshigao and yishigao groups， ethyl acetate part groups of 5 medicinal materials （except for dayidi， hongyidi and yiyidi groups）， dazhenggao and hongzhenggao groups， hongshuigao group] were increased significantly （P＜0.05 or P＜0.01）. The contents of 17-OHCS and D-β-H in dashigao group， the contents of ACTH and D-β-H in caoshigao group and the contents of D-β-H in gaoshigao and yishigao groups were significantly lower than hongshigao group. The contents of DA in gaoyigao， caoyigao and yiyigao groups as well as the contents of D-β-H in gaoyigao， hongyigao， caoyigao and yiyigao groups were significantly lower than dayigao group； the contents of DA in gaoyigao and caoyigao groups were significantly lower than hongyigao group， the contents of ACTH in gaoyigao， dayigao， caoyigao and yiyigao groups were significantly higher than hongyigao group. The contents of 17-OHCS， DA and ACTH in gaozhenggao， dazhenggao， caozhenggao and yizhenggao groups， the contents of A in dazhenggao， caozhenggao and yizhenggao groups as well as the contents of D-β-H in gaozhenggao， caozhenggao and yizhenggao groups were significantly lower than hongzhenggao group. The contents of 17-OHCS and D-β-H in caoshuigao and yishuigao groups were significantly lower than dashuigao group. The contents of 17-OHCS， DA and D-β-H in caoshuigao and yishuigao groups as well as the contents of DA and D-β-H in gaoshuigao groups were significantly lower than hongshuigao group （P＜0.05 or P＜0.01）. CONCLUSIONS： Different polar parts of 5 kinds of Alpinia can improve gastric ulcer model rats with cold syndrome to different extents； among them， the fruit of A. galangal is the best， followed by the root of A. officinarum. Above medicinal materials can regulate the function of sympathetic-adrenal system by increasing the contents of 17-OHCS， CAs and D-β-H.

Objective A 10-years-old girl with Schimke immuno-osseous dysplasia ( SIOD ) was reported and a literature review presented to provide clinical and genetic information of this rare disease. Methods Retrospective analysis of a case of SIOD in Capital Institute of Pediatrics was reported. The patient and her parents' DNA were extracted from blood for detecting SMARCALl gene mutation. Literatures of the disease were reviewed. Results The patient was a ten-years-old girl who admitted because of slow growth in height for 3 years. Herstaturewas123cm(T(p.Q149X)andc.1933C>T(p.R645C)compound heterozygous mutation. A novel nonsense c.445C>T(p. Q149X)was found. One reported missense mutations c. 1933C>T(p. R645C) was detected. We reviewed literatures and found that there were 4 confirmed cases in China including this one. All the 4 cases had the characteristic of short stature, special facial features, osseous dysplasia, pigmentations in body, and proteinuria. However the severity of the disease and genetic changes are not the same. Conclusion When a patient was admitted because of short stature, diagnosis of SIOD should be suspected if he or she also had special facial feature, osseous dysplasia, café-au-lait spots, and proteinuria. Gene test is a tool to help us to make a definite diagnosis of SIOD.

Objective To report clinical characteristics and genetic results of two sisters suffered from congenital adrenal cortex hyperplasia (17-α-hydroxylase deficiency), and relevant literatures were reviewed. Methods Clinical manifestation and laboratory examination data of two sister cases of 17-α-hydroxylase deficiency enrolled in Capital Institute of Pediatrics in March 2016 were analyzed. Sanger sequencing and MLPA for CYP17A1 genes were performed and the parents' genes were also verified. Results The two patients were four years and 10 years old, both suffered from hypokalemia after infections, and hypergonadotrophin gonad hypofunction. One case was with slightly high blood pressure. Laboratory test results showed potassium fluctuation tendency in 1.9~4.0 mmol/L, 17-OHP and DHEA was decreased. Enhanced CT showed different degree of adrenal gland enlargement. Chromosome examination of the older sister is 46, XY. Both sisters demonstrated heterozygous mutation of CYP17A1 gene. The molecular genetic analysis suggested a c.985_987delTACinsAA from father and a deletion spanning exons 1-7 of the CYP17A1 gene from mother. Conclusion 17-α-hydroxylase enzyme deficiency can be diagnosed before adolescence. Clinical hypokalemia with unknown reason and high blood pressure may indicate the disease. The diagnosis can be confirmed with gene sequencing of CYP17A1.

Objective: To investigate the clinical features and genetic characteristics of patients with ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene variants. Method: The clinical data of a patient with ENPP1 homozygous variants from Capital Institute of Pediatrics was collected, the related literature was searched from China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, National Center from Biotechnology Information and PubMed by using search term "ENPP1" , "hypophosphatemic rickets" . The literature retrieval was confined from 1980 to February 2017. The clinical manifestations, bone metabolism examinations, X-RAY and genotypes were reviewed. Result: Our patient was an 11 years old girl, with 7 years history of lower limb malformation. She showed significant valgus deformity of the knee (genu valgum). Metabolic examination revealed reduced level of plasma phosphate (0.86 mmol/L), a normal level of plasma calcium (2.30 mmol/L) and an elevated alkaline phosphatase level of 688 IU/L. The calcium-phosphorus product was 25.9. A homozygous nonsense variants of ENPP1 gene, c.783C>G (p.Tyr261X) in exon 7 was identified in the patient. Both parents were heterozygous carriers. Literature review identified 3 Chinese patients from one publication and 17 cases from twenty one publications around the world. None of the patients was found PHEX variants which is the most common variants among hypophosphatemic rickets patients. The disease onset age was 11 months to 10 years. Eight patients had short stature, five patients had the history of generalized arterial calcification of infancy. Four suffered from deafness, three showed localized calcifications of arteries, three patients manifested pseudoxanthoma elasticum and two suffered from ossification of posterior longitudinal ligament. Nine missense variants, six splicing variants and 4 nonsense variants were reported among these twenty patients. c.783C>G was found in two Chinese patients. Conclusion ENPP1 gene mutation was a cause of patient with hypophosphatemic rickets. Comorbid features included generalized arterial calcification of infancy, early onset hearing loss, pseudoxanthoma and ossification of posterior longitudinal ligament. ENPP1 gene testing should be performed on hypophosphatemic rickets patients without PHEX gene variants. Long-term follow up is recommended. The most common types of ENPP1 gene variants were nonsense/splicing variants. The gene c.783C>G was the most common variants in Chinese patients.

Objective To analyze the genetic changes and detailed clinical presentations of 5 maturity-onset diabetes of the young (MODY) cases in order to enhance the knowledge about MODY in children.Methods Seventy-eight patients initially diagnosed as diabetes mellitus between January 1 and December 31,2015 in Capital Institute of Pediatrics were retrospectively studied.Nine of them were suspected of MODY,and 5 patients were diagnosed as MODY through gene test.Clinical informations were collected including age,gender,main complaint,family history,body mass index (BMI),fasting blood glucose,fasting blood insulin,2-hour blood glucose and insulin after oral glucose tolerance test and glycosylated hemoglobin.The blood glucose was monitored dynamically in 2 patients.Targeted capture panel was designed to capture the 16 genes related to MODY,including 12 genes from MODY1 to MODY13 type and 4 genes with weak evidence of MODY according to Human Gene Mutation Database Exome capture,and Next-Generation sequencing on a HiSeq2000 (Illumina) was performed.After bioinformatics analysis,all prioritized variants detected in patients were validated by Sanger sequencing,including the probands and their parents.Results Five patients were confirmed as MODY by molecular diagnosis,accounting for 6.4％ of all the 78 patients in 2015.The ratio of male to female was 2 ∶ 3.The ages at diagnosis ranged from 2 to 11 years old,and the median age was 3 years old.Two cases were found to have abnormal blood glucose in physical examination.The rest 3 cases were discovered with abnormal blood glucose during hospitalization because of pneumonia (1 case)or diarrhea (2 cases).In 4 cases,their mothers had gestational diabetes history,in 1 case the father suffering from diabetes.BMI ranged 15.68-23.40 kg/m2.Fasting blood glucose was 6.3-7.2 mmol/L.Fasting blood insulin was 0.5-8.0 IU/L.Glucose tolerance test results showed that blood glucose of the patients was 8.6-10.8 mmol/L after 2 hours.The level of glycosylated hemoglobin was 5.5％-6.7％.Blood glucose was 3.9-13.0 mmol/L.All the 5 confirmed patients were caused by GCK gene mutation (MODY2 type).The mutations detected were located at Exon7 (2 cases),Exon4 (1 case),Exon5 (1 case),and Exon10 (1 case).Conclusions All the confirmed MODY patients were identified either through medical exam or infectious disease,and all had positive family history.Their BMI ranged widely.Fasting blood glucose was slightly elevated and glycosylated hemoglobin was normal or slightly elevated,but fasting blood insulin was normal in all the patients.Abnormal glucose tolerance test results were found in all 5 patients.Glycosylated hemoglobin was normal or slightly elevated.MODY2 was the only subtype detected in this group,which indicated that the common type in children was different from that in adults.

Objective Congenital nephrogenic diabetes insipidus (CNDI) is a rare disease, the aim of this article is to help better understanding of this disease. Methods The clinical features, genetic analysis and treatments of two siblings with CNDI were retrospectively analyzed, and related literatures were reviewed. Results Both brothers had polydispia, polyuria and low concentrate urine continuously, and they both had a mutation in AQP 2 conifrmmed with Sanger sequencing. This novel frame shift mutation caused arginine of 254 to histidine, and prolonged AQP 2 protein. Conclusions Gene analysis can help diagnosis of CNDI. Amiloride is useful option for treatment.