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OBJECTIVE@#To explore the clinical characteristics and genetic basis for three children with Congenital chlorine diarrhea (CCD).@*METHODS@#Three children with CCD who attended the Affiliated Children's Hospital of Capital Pediatric Institute from June 2014 to August 2020 were selected as the research subjects. Peripheral blood samples of the three children and their parents were collected for genetic testing. And the results were verified by Sanger sequencing.@*RESULTS@#The clinical manifestations of the three children have included recurrent diarrhea, with various degrees of hypochloremia, hypokalemia and refractory metabolic alkalosis. Genetic testing revealed that the three children have all carried variants of the SLC26A3 gene, including homozygous c.1631T>A (p.I544N) variants, c.2063_1G>T and c.1039G>A (p.A347T) compound heterozygous variants, and c.270_271insAA(p.G91kfs*3) and c.2063_1G>T compound heterozygous variants. Sanger sequencing confirmed that all of the variants were inherited from their parents.@*CONCLUSION@#The variants of the SLC26A3 gene probably underlay the CCD in these children. Above finding has enriched the spectrum of SLC26A3 gene variants.
Subject(s)
Humans , Child , Chlorine , Genetic Testing , Hypokalemia/genetics , Homozygote , Diarrhea/genetics , MutationABSTRACT
In order to determine the changes of bacterial community structure and function in the early, middle and late stage of aerobic composting of chicken manure, high-throughput sequencing and bioinformatics methods were used to determine and analyze the 16S rRNA sequence of samples at different stages of composting. Wayne analysis showed that most of the bacterial OTUs in the three composting stages were the same, and only about 10% of the operational taxonomic units (OTUs) showed stage specificity. The diversity indexes including Ace, Chao1 and Simpson showed a trend of increasing at first, followed by decreasing. However, there was no significant difference among different composting stages (P < 0.05). The dominant bacteria groups in three composting stages were analyzed at the phylum and genus levels. The dominant bacteria phyla at three composting stages were the same, but the abundances were different. LEfSe (line discriminant analysis (LDA) effect size) method was used to analyze the bacterial biological markers with statistical differences among three stages of composting. From the phylum to genus level, there were 49 markers with significant differences among different groups. The markers included 12 species, 13 genera, 12 families, 8 orders, 1 boundary, and 1 phylum. The most biomarkers were detected at early stage while the least biomarkers were detected at late stage. The microbial diversity was analyzed at the functional pathway level. The function diversity was the highest in the early stage of composting. Following the composting, the microbial function was enriched relatively while the diversity decreased. This study provides theoretical support and technical guidance for the regulation of livestock manure aerobic composting process.
Subject(s)
Animals , Manure/microbiology , Chickens/genetics , Composting , RNA, Ribosomal, 16S/genetics , Soil , Bacteria/geneticsABSTRACT
A 6-month-oldgirl was admitted in Affiliated Children′s Hospital of Capital Institute of Pediatrics with the complaint of “Recurrent fractures within 3 months”. She presented with frequent fractures, skeletal deformities,and distinctive facial features, including wide forehead, ocular proptosis and a flat nose bridge. She was diagnosed as osteoporosis imperfecta based on the clinical characteristics and given pamidronate disodium treatment. The whole exon sequencing showed heterozygous mutation of P4HB gene c.1178A>G (p.Y393C), which leads to a rare type of osteoporosis imperfect a Cole-Carpenter syndrome-1. Eight cases of osteoporosis imperfecta affected by P4HB mutation involving 5 mutationsites were retrieved from literature review. Different mutation sites lead to different clinical manifestations and severity of disease. The genotype-phenotype correlation of osteoporosis imperfect may be associated with the domains of coding proteins.
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A 15-month-old baby girl presenting with hypoglycemia was admitted in Children′s Hospital of Capital Institute of Pediatrics in October 2019. The blood glucose level was 2.4 mmol/L at admission, she showed asymmetry of left and right limbs. The levels of D-3-hydroxybutyric acid, urinary ketone body and free fatty acid were all decreased during hypoglycemia attack, the hyperglycemic hormone was increased, but insulin level was<0.2 μIU/ml. The whole exon gene testing showed that the patient had heterozygous mutation of AKT2 gene c.49G>A (p.E17K), which was mosaicism; then the patients was diagnosed as hypoinsulinemic hypoketotic hypo-fatty-acidemic hypoglycemia due to mutation of AKT2 gene. Blood glucose levels were dynamically monitored, high carbohydrate diet was administered and raw corn starch supplementation was given before bedtime. After 18 months of treatment, the growth and development of the patient was normal, the frequency of hypoglycemia attacks decreased, and bilateral limb asymmetry improved. The relevant literature was searched from Wanfang Database, CNKI and PubMed from January 1980 to March 2021 by using search term"hypoglycemia"and"AKT2 gene". Five cases of hypoglycemia caused by AKT2 mutation were retrieved, all were reported from other countries, no one case from China. The clinical manifestation of this disease is similar to hyperinsulinemic hypoglycemia, but insulin could not be detected during the attack of hypoglycemia, and the patients may have hemihypertrophy. The study suggests that if the patient has hypoglycemia accompanied by hypoinsulinemia and hemihypertrophy, we should consider the possibility of AKT2 gene mutation, and genetic testing should be recommended.
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The clinical data of a child with Van Wyk-Grumbach syndrome (VWGS) who visited Capital Institute of Pediatrics in 2019 were retrospectively analyzed. The patient was a seven year old girl, her main clinical manifestations included short stature (well below -2 standard deviations), obesity and breast development. The results of laboratory testing indicated that the level of thyrotropin (TSH)>100 mIU/L and the level of free thyroxine (FT 4) was 5.15 pmmol/L; serum estradiol and prolactin levels were significantly elevated; the gonadotropin-releasing hormone(GnRH) stimulation test showed that the gonad axis was not activated. She had giant ovarian cyst, pituitary hyperplasia, anemia and pericardial effusion. Bone age was delayed; and her blood lipids had increased. Therefore, she was diagnosed as Van Wyk-Grumbach syndrome. The patient received the treatment of levothyroxine, the drug does was gradually increased from 25 μg per day to 75 μg per day, vaginal bleeding was followed by medication for 3 days. Three months later, her thyroid function was back to normal, and giant ovarian cyst regressed, but the ovaries were bulky,pericardial effusion was absorbed. The levothyroxine dose was adjusted to 50 μg per day according to the test result of thyroid function. And 1 year late the thyroid function was normal, pituitary magnetic resonance imaging(MRI) showed the hyperplastic adenohypophysis was back to normal, no more vaginal bleeding occurred, and the giant ovarian cyst was shrunk.
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Lung cancer is a common malignant tumor in the world and NSCLC accounts for the majority. Although the overall survival rate of patients with NSCLC is improving through surgery, chemotherapy, radiotherapy, targeted therapy and immunotherapy, the prognosis of some patients is still poor. Inflammatory response plays an important role in the occurrence, progress and metastasis of tumors. Therefore, the whole blood cell count associated with inflammatory response will be an effective index to predict the prognosis of NSCLC. The systemic immune-inflammatory index (SII), composed of neutrophils, lymphocytes and platelet systems, can fully reflect the systemic inflammation and immune status of the host, and can be combined with other inflammatory indexes such as C-reactive protein/albumin value (CAR), advanced lung cancer inflammatory index (ALI) and prognostic nutritional index (PNI). It can increase the predictive efficacy of NSCLC patieats' prognosis. In addition, SII has the advantages of low cost, simple operation and convenient acquisition, and is easy to be used in clinic. This paper reviews the research progress of the relation between SII and the prognosis of NSCLC.
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Objective:To analyze the clinical features and CYP17A1 gene mutation of 17α-hydroxylase/17, 20-lyase deficiency (17OHD). Methods:The clinical data, laboratory examination and genetic results of 6 children with 17OHD in the Department of Endocrinology, Children′s Hospital Affiliated to Capital Institute of Pediatrics from March 2014 to December 2019 were enrolled and analyzed retrospectively.Meanwhile, the clinical types of all congenital adrenocortical hyperplasia (CAH) patients were calculated and then the incidence of 17OHD was calculated.Results:The 6 cases were from 5 families, and the age at diagnosis was ranged from 1 year and 6 months to 15 years old, in which 2 cases were 46, XX and 4 cases were 46, XY.Their gender were all female.Three cases presented with hypertension (50.0%), 4 cases with hypokalemia (66.7%), and 1 case with labia mass (16.7%). The gonad developed into a testis in patients with 46, XY, and patients with 46, XX had ovarian hypoplasia.The laboratory tests revealed an decrease in the cortisol at 8 AM in all cases, ranging from 0.62 to 5.93 mg/L.Five cases displayed an increase in adrenocorticotropic hormone (ACTH) in the range of 84-271 ng/L, and 1 patient with normal ACTH (58 ng/L) had a peak cortisol of 1.75 mg/L after the ACTH challenge test.Elevated progesterone was detected in 6 patients with a normal 17 hydroxyprogesterone level.Further results proved low levels of testosterone and estradiol, and high levels of luteinizing hormone (LH), and follicle stimulating hormone (FSH). CT scan showed mild adrenal hyperplasia in all cases.Among 114 CAH patients during the same period, the incidence of 17OHD came second at 5.3%.The CYP17A1 gene mutation results indicated that 2 unrelated patients were homozygous mutation for p. Y329fs (c.985_987delTACinsAA), 2 siblings were compound heterozygous mutations for p. Y329fs and exon 1-7 deletion, 1 patient was compound heterozygous mutations of p. Y329fs and p. R416C (c.1246C>T), and 1 patient was homozygous mutations for p. L465P (c.1394T> C), which was first reported in China. Conclusions:17OHD is not rare in CAH.Female children with hypokalemia, hypertension, and hypogonadism can lead to diagnostic suspicion of 17OHD.The p. Y329fs mutation in Chinese 17OHD children is a hotspot.The p. L465P (c.1394T>C) mutation is a new mutation in China and it could enrich the mutant spectrum of CYP17A1 gene in China.
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OBJECTIVE@#To summarize clinical manifestations and results of genetic testing in 12 children with Gitelman syndrome (GS).@*METHODS@#Clinical data of the children was collected. Whole exome sequencing(WES) was carried out to screen potential variants of genomic DNA. Candidate variants were verified by Sanger sequencing.@*RESULTS@#The patients have included 10 boys and 2 girls, whom were diagnosed at between 2.8 to 15.0 year old. Six patients were due to infections, 5 were due to short stature, and 1 was due to lower limb weakness. All patients were found to carry variants of SLC12A3 gene, which included 11 with compound heterozygous variants and 1 with homozygous variant. All of the 19 alleles of the SLC12A3 gene carried by the patients were delineated, which included 15 missense variants, 2 frameshift variants and 2 splice region variants. These variants were unreported previously, which included c.578_582dupCCACC (p.Asn195Profs*109), c.251C>T (p.Pro84Leu) and c.2843G>A (p.Trp948X).@*CONCLUSION@#The clinical symptoms of GS in children are atypical and often seen in older children. For children with occasional hypokalemia associated with growth failure, GS should be suspected. The majority of GS children carry two pathogenic variants of the SLC12A3 gene, mainly compound heterozygotes, among which p.Thr60Met is the most common one. The discovery of new variants has enriched the spectrum of SLC12A3 gene variants.
Subject(s)
Adolescent , Child , Child, Preschool , Female , Humans , Male , DNA , Genetic Testing , Gitelman Syndrome/genetics , Hypokalemia/genetics , Solute Carrier Family 12, Member 3/geneticsABSTRACT
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.
Subject(s)
Child , Humans , Male , Ataxia Telangiectasia Mutated Proteins/genetics , Dwarfism/genetics , Intellectual Disability/genetics , Microcephaly/genetics , Siblings , Exome SequencingABSTRACT
OBJECTIVE@#To explore the genetic basis for an infant with congenital generalized lipodystrophy.@*METHODS@#Peripheral blood samples of the child and her parents were collected for the extraction of genomic DNA. All exons and flanking sequences of the AGPAT2 gene were subjected to Sanger sequencing.@*RESULTS@#The child was found to harbor compound heterozygous c.792_805delGGAGAACGGGGCCA (p.Gln264Hisfs*208) and c.335C>T (p.P112L) variants in exons 6 and 3 of the AGPAT2 gene, which were respectively inherited from her mother and father. c.792_805delGGAGAACGGGGCCA (p.Gln264Hisfs*208) was previously unreported, while c.335C>T (p.P112L) was known to be pathogenic.@*CONCLUSION@#The compound heterozygous variants of the AGPAT2 gene probably underlie the disease in this child.
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BACKGROUND@#Airway stents has been widely used in airway stenosis and fistula, yet clinical date of airway stents in reestablishment a complex airway is insufficient. The aim of this study is to evaluate the efficacy and safety to combine the silicon stent and the metal stent in reestablishment a complex malignant airway.@*METHODS@#Patients with non-operable complex malignant airway stenosis and fistula were recruited in this study. Silicon Y stent combined with covered metal stent (Hybrid stent) were inserted to reestablishment the airway. Clinical outcomes and complications were observed over six months.@*RESULTS@#A total of 23 silicon Y stents and 25 covered metal stents were inserted in 23 patients. Nineteen of 23 (19/23, 82.6%) patients felt a immediately relieving of current symptoms. The mean duration of stents placement in patients was (153.43±9.14) days. The modified British Medical Research Council, Karnofsky Performance Status and Performance Status scale were improved significantly after stenting. A total of 12 patients living with stent at 6 months. Others dead of tumor progression. There were no death or immediate complications related to hybrid stenting implication.@*CONCLUSIONS@#Hybrid stenting proved to be useful and was well-tolerated in the management of complex malignant airway stenosis and fistula.
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Objective:To evaluate the effect of regulation of zinc finger protein 281 (ZNF281) expression by miR-203 on the proliferation and migration of melanoma cell lines.Methods:The human vascular endothelial cell line ECV304, as well as human melanoma cell lines A375, M14, SK-MEL-28 and SK-MEL-2 were subjected to conventional culture. Real-time fluorescence-based quantitative PCR was performed to measure the miR-203 expression, and Western blot analysis to determine the ZNF281 protein expression in the above cell lines. Both A375 and M14 cells were divided into 5 groups: control group (normally cultured) , miR-203 mimic control group transfected with the miR-203 mimic negative control, miR-203 inhibitor control group transfected with the miR-203 inhibitor negative control, miR-203 mimic group transfected with a miR-203 mimic, miR-203 inhibitor group transfected with a miR-203 inhibitor. Real-time fluorescence-based quantitative PCR was conducted to measure intracellular miR-203 expression, cell counting kit (CCK) -8 assay to assess cellular proliferation activity, Transwell assay to determine the number of migratory cells, and Western blot analysis to measure the protein expression of ZNF281 in A375 and M14 cells in the above groups. Dual-luciferase reporter assay was conducted to verify the targeting relationship between miR-203 and ZNF281. One-way analysis of variance was used for comparison of multiple groups, and the Student-Newman-Keuls- q (SNK- q) test for multiple comparisons. Results:Lower miR-203 expression and higher ZNF281 protein expression were observed in the melanoma cell lines A375, M14, SK-MEL-28, SK-MEL-2 compared with the vascular endothelial cell line ECV304 (all P < 0.05) . Compared with the control group, miR-203 mimic control group and miR-203 inhibitor control group, the miR-203 mimic group showed significantly increased miR-203 expression in A375 and M14 cells ( F = 487.632, 68.454, respectively, both P < 0.05) , significantly decreased number of migratory A375 and M14 cells (both P < 0.05) , and significantly decreased ZNF281 protein expression (both P < 0.05) , while the miR-203 inhibitor group showed significantly decreased miR-203 expression in A375 and M14 cells (both P < 0.05) , significantly increased number of migratory A375 and M14 cells (both P < 0.05) , significantly increased ZNF281 protein expression in A375 cells ( P < 0.05) , significantly increased proliferative activity of A375 cells at 36, 48, 60 and 72 hours (all P < 0.05) , and significantly increased proliferative activity of M14 cells at 24, 36, 48, 60 and 72 hours (all P < 0.05) . Dual-luciferase reporter assay showed interaction sites between miR-203 and ZNF281. Conclusion:Up-regulating the miR-203 expression can inhibit the proliferation and migration of melanoma cell lines, and vice versa, likely by regulating the expression of ZNF281.
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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(<P3, -3 SD). He presented special facial features, hyperextensible joints, brachydactyly, a shawl scrotum, and left cryptorchidism. He was found to have a genomic deletion (1.1 Mb) involving exons 9 to 12 in the FGD1 gene inherited by his mother. The patient met the clinical diagnostic criteria of the Aarskog-Scott syndrome. He was given growth hormone treatment from 5 years old, found 17 cm growth within 18 months. There was no adverse event of growth hormone therapy. This reminds us when a short patient showing a facial-digital-genital triad signs, Aarskog-Scott syndrome should be considered.
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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.
Subject(s)
Female , Humans , Infant, Newborn , Genetic Counseling , Genetic Testing , Hyperparathyroidism/genetics , Infant, Newborn, Diseases/genetics , Mutation , Pedigree , Receptors, Calcium-Sensing/genetics , Exome SequencingABSTRACT
Objective To investigate the diagnostic value of thyroid ultrasonography and thyroid function in elderly patients with thyroid nodules.Methods Clinical data of 190 elderly patients with thyroid nodules admitted into our hospital from July 2017 to June 2018 were retrospectively analyzed.All patients underwent examinations of thyroid function,thyroid ultrasound and postoperative histology.The diagnostic value of thyroid function and thyroid ultrasound was analyzed.Results Of the 190 cases,161 cases were diagnosed with benign thyroid nodules and 29 cases with malignant nodules by histological examination after thyroidectomy.Patients with benign thyroid nodules had slightly higher levels of thyroxine(TT4),triiodothyronine(TT3)and thyroid stimulating hormone (TSH)than patients with malignant nodules,but the differences were not statistically significant(84.32±56.31 mmol/L vs.82.66±53.05 mmol/L,2.05±0.75 mmol/L vs.1.98±0.57 mmol/L,2.32±3.20 mmol/L vs.1.97±0.90 mmol/L,t =0.171,0.554 and 0.677,P=0.432,0.290 and 0.249,respectively).There were 45 cases(27.9％),68 cases (42.2％) and 48 cases(29.8％) of benign thyroid nodules and 3 cases (10.3％),20 cases (68.9％) and 6 cases (20.7％) of thyroid malignancies in patients with TSH levels lower than 1.00 mmol/L,between 1.00 and 4.00 mmol/L and higher than 4.00 mmol/L,respectively,indicating the proportion of patients with TSH levels between 1.00 and 4.00 mmol/L was higher in malignant patients than in benign patients(x2 =7.899,P=0.005),but the incidence of malignant thyroid nodules was not higher with increased TSH levels.Patients with malignant nodules were more likely to show unclear boundaries,irregular morphology,microcalcifications,hypoechoicity or type Ⅲ vascular pattern on ultrasound than patients with benign nodules(x2 =6.385,15.525,4.062,4.062 and 4.487,P=0.012,0.000,0.044,0.044 and 0.034,respectively).Conclusions Thyroid nodules are mostly benign in the elderly.The malignant rate of thyroid nodules does not increase along with the TSH level.Thyroid nodules with unclear boundaries,irregular shapes,microcalcifications,hypoechoicity or type Ⅲ vascular pattern on ultrasound have a higher possibility of malignant transformation.
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Objective@#To explore the screening efficiency of colorectal cancer in urban residents of Kunming, China.@*Methods@#Using the method of cluster sampling, from October 2014 to October 2017, residents of the three jurisdictions of Xishan, Guandu and Chenggong Districts of Kunming city were investigated. The inclusion criteria: (1) resident (for more than 3 years) population of Kunming city aged 40-74 years old; (2) voluntarily participating and receiving colonoscopy; (3) signing informed consent. Based on the Harvard Cancer Risk Index, the questionnaire was built on the consensus of more than 20 years of common cancer epidemiology in China. Through the consensus reached by the multidisciplinary expert panel discussion, a comprehensive evaluation system for cancer risk in China was designed. The high-risk group of colorectal cancer was determined by preliminary screening of the questionnaire, and a free colonoscopy was performed for the appointment to the gastrointestinal endoscopy department of the Yunnan Cancer Hospital. All polypoid lesions and ulcers found by colonoscopy must be biopsied to confirm the diagnosis. χ2 test or Fisher exact probability method was used to compare the detection of colorectal cancer in 4 groups of 40-49 years old, 50-59 years old, 60-69 years old, and ≥70-years old. Detection of colonoscopy, compliance, pathological examination, pathological diagnosis, and morbidity of colorectal cancer were analyzed.@*Results@#A total of 127 960 people from 40 to 74 years old of urban residents in Kunming city participated in the preliminary screening of the questionnaire, including 59 748 (46.7%) males and 68 212 females (53.3%) with mean age of (53.6±8.6) years old. The 40-49 years old group had the largest number of participants (48 044, 37.5%), followed by the groups of 50-59 years old (42 473, 33.2%), 60-69 years old (34 111, 26.7%), and ≥70 years old (3332, 2.6%). Till October 2017, a total of 14 971 people were screened as at high risk of colorectal cancer, with the high-risk detection rate of 11.7%, and the high-risk detection rate of women was significantly higher than that of men [13.4% (9 109/68 212) vs. 9.8% (5 862/59 748), χ2=386.947, P<0.001]. The highest high-risk detection rate was in the 50-59 years group in both gender [men: 11.1% (2202/19 831), women: 15.3% (3034/22 642)]. A total of 3449 people among the high-risk population received colonoscopy examination. The compliance rate of colonoscopy was 23.0% (3449/14 971), and the male compliance rate was 19.8% (1162/5862), which was significantly lower than that of females [25.1% (2287/9109), χ2=56.175, P<0.001]. The highest compliance was observed in the 50-59 years group [25.4% (1438/5668)], followed by 40-49 years and 60-69 year group [22.1%(1091/4931) and 22.0%(891/4048), respectively], and the compliance of ≥70 years old group was the lowest [9.0% (29/324)]. Colonoscopy examination revealed 606 cases with lesions, the detection rate of lesions was 17.6%, and the male detection rate was significantly higher than that of females [26.9% (313/1162) vs. 12.8% (293/2287), χ2=106.140, P<0.001]. The detection rate of lesions increased with age [40-49, 50-59, 60-69, ≥70: 10.9% (119/1091), 17.5% (252/1438), 25.0% (223/891) and 41.4% (12/29), respectively, χ2=79.010, P<0.001]. A total of 584 cases underwent endoscopic excision and pathological diagnosis, and 465 cases (13.5%) of precancerous lesions were detected. The prevalence of precancerous lesions in men was higher than that in women [21.3% (247/1162) vs. 9.5% (218/2287), χ2=90.801, P<0.001], the precancerous lesion detection rate increased with age [40-49, 50-59, 60-69, ≥70: 8.0% (87/1091), 14.3% (206/1438), 18.1% (161/891) and 37.9% (11/29); χ2=58.109, P<0.001]. A total of 4 patients with colorectal cancer were detected, including 3 males and 1 female. The detection rate of male colorectal cancer was 258.2/100 000, and the female was 43.7/100 000, whose difference was not statistically significant (χ2=1.488, P=0.223). There was no significant difference in the detection rate of colorectal cancer among 4 age groups [40-49, 50-59, 60-69, ≥70: 91.7/100 000 (1/1091), 69.5/100 000 (1/1438), 224.5/100 000 (2/891) and 0, respectively, P=0.696].@*Conclusions@#Screening for colorectal cancer is an important measure to control the onset and death of colorectal cancer. Through the questionnaire risk assessment plus colonoscopy, two-step screening method can improve the screening efficiency and greatly reduce the screening cost.
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21-hydroxylase deficiency (21-OHD) is an autosomal recessive hereditary disease, which results in reduced synthesis of aldosterone and cortisol and increased adrenal androgens due to lack or reduced activity of 21-hydroxylase during the synthesis of adrenal steroids.In recent years, the " backdoor" metabolic pathway of adrenal androgen synthesis and the role of adrenal specific 11-oxygenated C19 steroid in 21-OHD have been recognized, and some adrenal specific androgen sources are gradually becoming diagnostic and therapeutic indicators for 21-OHD.On basis of original glucocorticoid and salt corticosteroid replacement therapy, new drugs and treatments are gradually developed and applied in clinical practice.Nov, the latest progress in diagnosis, treatment and monitoring of 21-OHD is reviewed.
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21-hydroxylase deficiency (21-OHD) is an autosomal recessive hereditary disease,which results in reduced synthesis of aldosterone and cortisol and increased adrenal androgens due to lack or reduced activity of 21-hydroxylase during the synthesis of adrenal steroids.In recent years,the " backdoor" metabolic pathway of adrenal androgen synthesis and the role of adrenal specific 11-oxygenated C19 steroid in 21-OHD have been recognized,and some adrenal specific androgen sources are gradually becoming diagnostic and therapeutic indicators for 21-OHD.On basis of original glucocorticoid and salt corticosteroid replacement therapy,new drugs and treatments are gradually developed and applied in clinical practice.Nov,the latest progress in diagnosis,treatment and monitoring of 21-OHD is reviewed.
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Poor experience of teacher-student interaction and low user loyalty exist in MOOC (massive open online courses).Therefore,the campus open online courses (COOC),a network teaching platform,was developed to integrate traditional classroom teaching and network teaching and to build an online-offline curriculum system according to professional training scheme of school.The online-offline teaching design and learning evaluation in COOC platform was also developed.The running data of COOC platform showed that the online-offline learning evaluation model has guiding impact on students' learning attitude because it can record the students' learning process and learning effect,which can enhance students' active participation in self-directed learning.The learning evaluation model in COOC is objective and scientific,which is helpful to improve the quality of teaching and learning.
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Graves' disease is the most common cause of hyperthyroidism in children,its clinical manifestations includes goiter,eye diseases (orbital diseases) and systemic hypermetabolism.Diagnosis includes thyroid function and etiological examinations.Treatment options includes anti-thyroid medications (ATDs),radioactive iodine therapy,and thyroid surgery.ATDs are the preferred treatment for children with hyperthyroidism,and attention should be paid to the adverse reactions associated with ATDs.Now,the diagnosis,treatment and prognosis of hyperthyroidism in children are reviewed.